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	NSWES973-F	WT	HH	HZ	NC
chr1	945086	945086	T	C	exonic	NOC2L	.	nonsynonymous SNV	NOC2L:NM_015658:exon18:c.A2114G:p.E705G	.	378	1128	15	0	1	16	0.00660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0004	0.00459265	0.0023	0.0001	9.038e-05	0	0	0.0005	0.0012	0.0152	0.0019987	309	154602	rs138652036	0.0009	0.0010	0.0005	0.0012	0.0118	0.0008	0.0008	0.0112	0.0109	5.979e-05	0.0002	3.826e-05	7.56e-05	0	0.0031	0.0002	0.0011	0.0118	0.0005	0.0005	0.0003	0.0007	0.0121	0.0004	0.0004	0.0096	0.0087	2.409e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0.0121	0.214	0.19361	T	0.111	0.37173	T	0.0	0.02946	B	0.0	0.01387	B	0.000058	0.00387	N	48.408800	1	0.08975	N	0.77	0.19370	N	1.77	0.25841	T	-1.41	0.34795	N	0.151	0.15469	-1.0456	0.15650	T	0.045	0.19152	T	10	0.0035588741	0.00064	T	.	.	.	0.047	0.12962	.	.	0.326345978581	0.32251	0.03313889275319417	0.03261	.	.	0.348281800747	0.17669	T	0.056513	0.30308	T	-0.488325	0.00664	T	-0.6375	0.09853	T	0.0123893991982372	0.00203	T	0.255674	0.03967	T	0.08332706	0.19237	0.039669	0.04111	0.08332706	0.19237	0.039669	0.04111	-5.283	0.39774	T	.	.	0.068	0.02829	B	.	.	0.679239	0.10477	7.194	0.57409483587316601	0.05763	0.00824	0.03324	N	AEFGBHCI	0.026043	0.01887	N	-1.2354220434111	0.04496	0.2030134	-1.33529142416166	0.03982	0.1868934	0.999998522456975	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	0.685	0.685	0.17173	-1.636000	0.02119	.	.	-0.769000	0.03460	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.0:1.0	4.005	0.09084	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003627	0.000000	0.004087	0.000000	0.000000	0.000000	0.003049	0.015152	0.05	1460.43	35	chr1	945086	.	T	C	1460.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.363;DP=487;ExcessHet=0;FS=2.29;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-1.432;SOR=0.627	GT:AD:DP:GQ:PL	0/1:63,60:123:99:1472,0,1658	9	0	1	0
chr1	2406784	2406784	C	G	exonic	PEX10	.	nonsynonymous SNV	PEX10:NM_001374425:exon4:c.G769C:p.G257R,PEX10:NM_001374426:exon4:c.G337C:p.G113R,PEX10:NM_001374427:exon4:c.G280C:p.G94R,PEX10:NM_002617:exon4:c.G712C:p.G238R,PEX10:NM_153818:exon4:c.G772C:p.G258R	Peroxisome biogenesis disorder 6A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 6B, Autosomal recessive	0	1495	26	1	0	28	0.00927767	.	.	YES	194546	PEX10-related_disorder|Peroxisome_biogenesis_disorder_6A_(Zellweger)|not_provided|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder_6B|Peroxisome_biogenesis_disorder,_complementation_group_7	.|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|MedGen:C3661900|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871,Orphanet:44|MedGen:C1864399	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.343	0.178476205058	0.0010	0.00179712	0.0015	0.0003	0.0018	0	0	0.0021	0.0046	0.0004	0.0011513	178	154602	rs61736380	0.0011	0.0011	0.0011	0.0012	0.0080	0.0011	0.0011	0.0061	0.0055	0.0002	0.0014	0.0021	2.525e-05	0.0003	0.0080	0.0012	0.0015	0.0005	0.0014	0.0014	0.0012	0.0016	0.0021	0.0012	0.0012	0.0018	0.0017	0.0002	0.0219	0.0009	0.0020	0	0.0006	0.0068	0.0021	0.0033	0.0008	0.191	0.21066	T	0.106	0.39492	T	0.823	0.50672	P	0.498	0.50679	P	0.001488	0.38855	N	0.327536	0.947171	0.26608	N	2.2	0.62015	M	-1.48	0.81150	T	-1.21	0.30762	N	0.31	0.37405	-0.4718	0.69662	T	0.422	0.76657	T	10	0.010670394	0.00236	T	0.178476	0.85359	D	0.343	0.66488	.	.	0.841721472804	0.84021	0.5729844307713985	0.57226	0.219882442572	0.24531	0.394138902426	0.24251	T	0.146469	0.48408	T	-0.357986	0.04245	T	-0.29099	0.45671	T	0.0376728540169256	0.03274	T	0.927507	0.73308	D	0.057615306	0.11489	0.07020275	0.14886	0.057615306	0.11488	0.07020275	0.14886	-6.902	0.54027	T	0.21305723523911807	0.28600	0.257	0.49216	B	.;.;.	.;.;.	1.683752	0.21456	15.21	0.98928848122039481	0.48713	0.80498	0.40120	D	AEFDBHCI	0.295790	0.40582	N	-0.0912055269759382	0.37778	2.203	-0.16806200514842	0.32720	1.864289	0.99997250291566	0.50053	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.02	-0.228	0.12452	0.469000	0.21779	-4.311000	0.02224	0.599000	0.40250	0.999000	0.42656	0.000000	0.08366	0.183000	0.21389	0.0:0.4115:0.0:0.5885	8.870	0.34465	917	0.20147	Pex, N-terminal;Pex, N-terminal;Pex, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.004053	0.000000	0.005450	0.005882	0.000000	0.008772	0.009259	0.000000	0.1	2726.14	127	chr1	2406784	.	C	G	2726.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.132;DP=526;ExcessHet=0.2348;FS=0.469;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.369;SOR=0.635	GT:AD:DP:GQ:PL	0/1:60,53:115:99:1219,0,1573	8	0	2	0
chr1	2529567	2529567	C	A	exonic	HES5	.	nonsynonymous SNV	HES5:NM_001010926:exon3:c.G403T:p.A135S	.	418	1103	1	0	0	1	0.000453104	.	.	.	4146746	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.131	0.284326144608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1014849600	2.155e-05	1.847e-05	1.951e-05	2.382e-05	0.0013	1.385e-05	1.175e-05	0.0003	0.0002	0	0	0	0	0	0.0013	2.011e-05	2.849e-05	0	6.157e-05	5.965e-05	6.655e-05	5.631e-05	0.0002	3.191e-05	2.393e-05	3.967e-05	2.644e-05	4.943e-05	0	0	0	0	0	0	9.114e-05	0	0.0002	0.868	0.02619	T	0.656	0.06598	T	0.0	0.02946	B	0.0	0.01387	B	0.000008	0.00162	U	432.368000	1	0.08975	N	0.695	0.17993	N	-0.05	0.63403	T	0.22	0.04694	N	0.105	0.08925	-1.0189	0.24074	T	0.110	0.39675	T	10	0.056061864	0.06225	T	0.284326	0.90342	D	0.131	0.35738	0.221	0.14371	0.268702046668	0.26493	0.3327336828183182	0.33186	0.235431891898	0.26076	0.807949662209	0.83177	D	0.200771	0.55845	T	-0.228854	0.16802	T	-0.56651	0.15770	T	0.0498446794567959	0.05473	T	.	.	.	0.04771352	0.08201	0.062002245	0.12062	0.04771352	0.08201	0.062002245	0.12062	-4.646	0.32744	T	.	.	0.083	0.09094	B	.	.	0.584368	0.09528	6.305	0.75373474267354923	0.11050	0.14501	0.18436	N	AEFDBCIJ	0.067533	0.13280	N	-1.12965875330809	0.06121	0.2809305	-1.11892959997172	0.07338	0.3565776	0.999999995910835	0.74766	0.59774	0.34471	0	0.491552	0.07993	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.35	-0.0887	0.13007	0.195000	0.16960	-0.118000	0.11753	-0.451000	0.05143	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.158:0.5049:0.1381:0.199	2.288	0.03879	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	199.43	13	chr1	2529567	.	C	A	199.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.365;DP=209;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.562;SOR=0.693	GT:AD:DP:GQ:PL	0/1:9,9:18:99:211,0,216	9	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	.	.	.	.	.	.	.	.	0.1667	105.02	58	chr1	3836493	.	A	C	105.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.804;DP=353;ExcessHet=0.2348;FS=10.685;InbreedingCoeff=-0.2516;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.54;ReadPosRankSum=2.26;SOR=2.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,7:43:68:.:.:68,0,945:.	4	0	2	4
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	.	.	.	.	.	.	.	.	0.3571	308.22	27	chr1	7933282	.	T	C	308.22	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.686;DP=268;ExcessHet=3.8694;FS=112.452;InbreedingCoeff=-0.418;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=0.235;SOR=7.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,11:35:85:.:.:85,0,399:.	2	0	5	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	.	.	.	.	.	.	.	.	0.25	5513.28	34	chr1	10326244	.	G	C	5513.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-6.793;DP=1395;ExcessHet=4.5998;FS=275.809;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.5;ReadPosRankSum=1.84;SOR=11.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,85:225:99:0|1:10326244_G_C:1744,0,4841:10326244	5	0	5	0
chr1	11059918	11059918	G	C	exonic	SRM	.	nonsynonymous SNV	SRM:NM_003132:exon1:c.C26G:p.A9G	.	435	1079	7	1	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.570774644216	.	.	0.0029	0	0	0	0	0.0070	0	0.0007	0.0003493	54	154602	rs771883659	0.0007	0.0007	0.0007	0.0007	0.0007	0.0006	0.0006	0.0005	0.0005	0	0.0004	0.0277	0	3.639e-05	0	0.0001	0.0024	0.0007	0.0008	0.0008	0.0009	0.0007	0.0008	0.0007	0.0006	0.0003	0.0002	2.427e-05	0	0	0.0273	0.0002	0	0.0034	0.0003	0.0005	0.0008	0.361	0.11882	T	0.211	0.26631	T	0.001	0.07471	B	0.0	0.01387	B	0.295964	0.14683	U	0.549745	1	0.08975	N	0.09	0.08384	N	-0.66	0.72348	T	-0.32	0.12283	N	0.216	0.24135	-1.0227	0.22834	T	0.104	0.38316	T	10	0.0053771436	0.00118	T	0.570775	0.96118	D	0.111	0.31313	0.148	0.05138	0.385882932397	0.38197	0.38256071449414875	0.38171	1.05964391427	0.76440	0.840971112251	0.88242	D	0.092927	0.39106	T	-0.149072	0.28458	T	-0.451908	0.27487	T	0.0109667043835689	0.00158	T	0.668433	0.27736	T	0.07706847	0.17469	0.058053963	0.10660	0.07706847	0.17469	0.058053963	0.10660	-3.255	0.13164	T	.	.	0.090	0.12702	B	.	.	1.464516	0.18873	13.97	0.72158324578202127	0.09876	0.00906	0.03544	N	AEFDGBHCI	0.023152	0.01251	N	-1.2379937409317	0.04460	0.2013432	-1.23890495374957	0.05297	0.2520629	0.999999999485191	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	2.57	1.42	0.21524	0.133000	0.15736	1.604000	0.27599	-0.455000	0.05132	0.000000	0.06391	0.118000	0.22871	0.002000	0.04165	0.1992:0.0:0.8008:0.0	5.229	0.14734	680	0.59965	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002809	0.000000	0.000000	0.003876	0.050000	0.000000	0.003472	0.008065	0.05556	30.17	10	chr1	11059918	.	G	C	30.17	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.792;DP=95;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.77;ReadPosRankSum=-0.319;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,2:8:41:41,0,193	8	0	1	1
chr1	12775958	12775958	C	A	exonic	PRAMEF12	.	nonsynonymous SNV	PRAMEF12:NM_001080830:exon2:c.C703A:p.L235I	.	431	1054	34	3	0	40	0.018622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0051	0.00499201	0.0060	0.0009	0.0045	0	0.0027	0.0075	0.0121	0.0082	0.0060349	933	154602	rs41303871	0.0083	0.0083	0.0083	0.0082	0.0158	0.0081	0.0081	0.0132	0.0122	0.0017	0.0048	0.0090	0	0.0034	0.0158	0.0090	0.0099	0.0088	0.0057	0.0057	0.0056	0.0058	0.0082	0.0054	0.0052	0.0076	0.0074	0.0016	0.0077	0.0082	0.0069	0.0002	0.0025	0.0204	0.0082	0.0066	0.0070	0.036	0.43393	D	0.036	0.52060	D	0.999	0.77913	D	0.998	0.88582	D	0.000273	0.46590	N	0.082849	1	0.08975	N	2.03	0.55503	M	3.92	0.03462	T	-1.63	0.39119	N	0.23	0.25867	-1.1314	0.01716	T	0.025	0.10553	T	10	0.0053751767	0.00118	T	.	.	.	0.053	0.14996	.	.	0.0884992946249	0.08302	0.37467456635632174	0.37381	0.224872128122	0.25025	0.391530036926	0.23885	T	0.041935	0.26020	T	-0.608715	0.00129	T	-0.639191	0.09727	T	0.0395617015165777	0.03612	T	0.561944	0.19701	T	0.035705116	0.04255	0.04293953	0.05231	0.035705116	0.04254	0.04293953	0.05230	-8.2	0.62425	D	.	.	0.120	0.24867	B	.	.	1.160230	0.15492	11.89	0.99267040497916514	0.57423	0.04144	0.09629	N	AEFBI	0.015681	0.00311	N	-0.21301176613444	0.32600	1.840198	-0.503277344472376	0.22064	1.196575	1.9053426631002E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.54	1.59	0.22622	-0.408000	0.07232	-20.000000	0.00162	-0.299000	0.06208	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2772:0.7228:0.0:0.0	6.734	0.22587	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.010101	0.004076	0.002924	0.050000	0.000000	0.030488	0.011364	0.05	5512.43	43	chr1	12775958	.	C	A	5512.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.074;DP=856;ExcessHet=0;FS=1.734;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=2.48;SOR=0.805	GT:AD:DP:GQ:PL	0/1:156,205:361:99:5524,0,3900	9	0	1	0
chr1	12825478	12825478	G	-	exonic	PRAMEF11	.	frameshift deletion	PRAMEF11:NM_001146344:exon4:c.901delC:p.L301Sfs*3	.	622	878	18	4	0	26	0.0145903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.00139776	0.0019	0.0002	0.0012	0	0.0006	0.0014	0.0042	0.0066	0.0014165	219	154602	rs368447714	0.0089	0.0090	0.0085	0.0093	0.0193	0.0087	0.0086	0.0184	0.0181	0.0016	0.0048	0.0078	5.752e-05	0.0035	0.0140	0.0090	0.0094	0.0193	0.0059	0.0063	0.0058	0.0061	0.0136	0.0056	0.0054	0.0105	0.0094	0.0014	0.0070	0.0065	0.0047	0	0.0032	0.0216	0.0088	0.0066	0.0136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007618	0.000000	0.004412	0.005102	0.000000	0.000000	0.014151	0.019048	0.05	105.46	22	chr1	12825477	.	AG	A	105.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.168;DP=118;ExcessHet=0;FS=3.09;InbreedingCoeff=-0.0589;MLEAC=1;MLEAF=0.05;MQ=30.71;MQRankSum=1.17;QD=9.59;ReadPosRankSum=-0.269;SOR=1.981	GT:AD:DP:GQ:PL	0/1:7,4:11:99:117,0,229	9	0	1	0
chr1	13345161	13345161	G	C	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon2:c.C154G:p.L52V	.	448	1050	24	0	0	24	0.0112994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00122823695766	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4083405	0.0065	0.0097	0.0062	0.0068	0.0101	0.0064	0.0064	0.0096	0.0094	0.0017	0.0019	0.0034	0.0010	0.0209	0.0078	0.0061	0.0069	0.0101	0.0086	0.0090	0.0082	0.0091	0.0128	0.0083	0.0081	0.0114	0.0111	0.0023	0	0.0030	0.0055	0.0030	0.0226	0.0069	0.0121	0.0062	0.0128	0.027	0.46513	D	0.04	0.50809	D	.	.	.	.	.	.	0.003069	0.35480	N	0.187155	0.999829	0.20203	N	.	.	.	2.34	0.16351	T	-2.62	0.56301	D	0.314	0.35408	-1.1271	0.01926	T	0.085	0.33014	T	10	0.013097256	0.00279	T	0.002789	0.05810	T	0.060	0.17295	.	.	0.151262610727	0.14761	0.351644659497815	0.35078	3.38724322197	0.99691	.	.	.	.	.	.	-0.235238	0.15962	T	-0.575679	0.14933	T	0.56700986623764	0.35120	D	0.610839	0.23175	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25592	B	.	.	1.240337	0.16358	12.49	0.99596510723236842	0.73925	0.03915	0.09299	N	AEFI	0.037934	0.05291	N	-0.134736818385502	0.35886	2.06705	-0.392184949578586	0.25228	1.386172	4.36143937790654E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	1.69	0.23290	1.543000	0.35754	-1.448000	0.05416	0.478000	0.22058	0.023000	0.19925	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.888	0.23393	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	.	.	.	.	.	.	.	.	0.1	791.14	38	chr1	13345161	.	G	C	791.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.74;DP=370;ExcessHet=0.2348;FS=12.214;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=34.06;MQRankSum=-2.752;QD=8.33;ReadPosRankSum=1.74;SOR=2.276	GT:AD:DP:GQ:PL	0/1:39,13:52:99:276,0,1230	8	0	2	0
chr1	16150928	16150928	G	C	exonic	EPHA2	.	nonsynonymous SNV	EPHA2:NM_004431:exon2:c.C121G:p.L41V	Cataract 6, multiple types, Autosomal dominant	0	1486	35	1	0	37	0.0122964	.	.	.	277032	not_provided|Cataract_6_multiple_types	MedGen:C3661900|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600,Orphanet:91492	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.359	.	0.0003	0.00219649	0.0024	9.649e-05	0.0003	0	0	0.0008	0.0033	0.0141	0.0020051	310	154602	rs147977279	0.0011	0.0011	0.0007	0.0015	0.0132	0.0011	0.0011	0.0126	0.0123	5.974e-05	0.0002	0	0	0	0.0073	0.0003	0.0014	0.0132	0.0006	0.0006	0.0004	0.0009	0.0126	0.0005	0.0005	0.0101	0.0092	9.625e-05	0	0.0002	0	0	0	0	0.0004	0.0005	0.0126	0.001	0.78490	D	0.004	0.74150	D	0.993	0.65571	D	0.989	0.78396	D	0.104332	0.19708	N	0.347855	0.999996	0.58761	D	2.645	0.77386	M	3.18	0.07478	T	-2.27	0.50666	N	0.721	0.72299	-1.0066	0.27973	T	0.095	0.35950	T	10	0.014636934	0.00308	T	.	.	.	0.359	0.67962	.	.	0.51585977439	0.51228	0.7065593612972182	0.70597	1.57610209646	0.88303	0.66790241003	0.62538	T	0.29296	0.66567	T	-0.40684	0.02086	T	-0.345498	0.39720	T	0.0443064352915746	0.04475	T	0.957704	0.84069	D	0.5229003	0.68426	0.50373375	0.71314	0.6663699	0.76240	0.5203363	0.72288	-7.228	0.55682	T	.	.	0.416	0.60448	A	.	.	4.794347	0.77832	26.8	0.99855624201752635	0.93458	0.94351	0.60889	D	AEFDGBCI	0.377127	0.46101	N	0.810017879435366	0.86730	8.979686	0.738519685415545	0.85298	8.538629	0.999996903580486	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.87	4.78	0.60666	3.419000	0.52486	9.572000	0.81012	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0903:0.0:0.9097:0.0	13.144	0.58869	337	0.86119	Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin type-A receptor 2, ligand binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.005435	0.000000	0.000000	0.000000	0.009146	0.003788	0.1	1028.14	35	chr1	16150928	.	G	C	1028.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.222;DP=372;ExcessHet=0.2348;FS=1.685;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.159;SOR=0.482	GT:AD:DP:GQ:PL	0/1:19,16:35:99:358,0,461	8	0	2	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	0.5	19915.0	795	chr1	16563946	.	C	T	19915.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.034;DP=5672;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.33;MQRankSum=-8.109;QD=3.62;ReadPosRankSum=0.15;SOR=0.707	GT:AD:DP:GQ:PL	0/1:374,158:532:99:3537,0,13512	0	0	10	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	0.5	25605.0	1089	chr1	16563989	.	G	C	25605.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.602;DP=7782;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.72;MQRankSum=-3.519;QD=3.37;ReadPosRankSum=0.72;SOR=0.713	GT:AD:DP:GQ:PL	0/1:527,212:739:99:4380,0,14412	0	0	10	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	0.35	27604.9	1046	chr1	16564107	.	T	G	27604.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.873;DP=6880;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.41;MQRankSum=4.65;QD=5.15;ReadPosRankSum=0.56;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:562,211:773:99:.:.:5421,0,17208:.	3	0	7	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	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	0.122310	0.050633	0.116848	0.149573	0.000000	0.129310	0.113475	0.169355	0.15	2935.45	770	chr1	16564112	.	G	A	2935.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.06;DP=6069;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=54.24;MQRankSum=4.23;QD=1.31;ReadPosRankSum=0.23;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:663,94:757:99:.:.:480,0,25549:.	7	0	3	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	51922.0	769	chr1	16564144	.	C	T	51922.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.597;DP=5482;ExcessHet=22.563;FS=1.183;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.28;MQRankSum=-17.39;QD=9.75;ReadPosRankSum=-0.081;SOR=0.807	GT:AD:DP:GQ:PL	0/1:274,340:614:99:12934,0,10373	0	0	10	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	0.45	38369.0	743	chr1	16564149	.	C	T	38369.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.237;DP=5102;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=53.19;MQRankSum=6.51;QD=8.24;ReadPosRankSum=-0.21;SOR=0.699	GT:AD:DP:GQ:PL	0/1:331,269:600:99:10221,0,12926	1	0	9	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	0.3571	1009.31	72	chr1	16579293	.	A	G	1009.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.23;DP=466;ExcessHet=2.8389;FS=148.609;InbreedingCoeff=-0.4818;MLEAC=6;MLEAF=0.429;MQ=35.93;MQRankSum=0.756;QD=4.59;ReadPosRankSum=-1.271;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,9:69:99:0|1:16579293_A_G:197,0,2492:16579293	2	0	5	3
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	0.3125	1005.64	72	chr1	16579294	.	T	C	1005.64	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.947;DP=465;ExcessHet=2.8389;FS=148.609;InbreedingCoeff=-0.4289;MLEAC=6;MLEAF=0.375;MQ=35.91;MQRankSum=0.756;QD=4.57;ReadPosRankSum=-1.305;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,9:69:99:0|1:16579293_A_G:197,0,2492:16579293	3	0	5	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.25	464.7	70	chr1	16579305	.	G	A	464.7	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.45;DP=449;ExcessHet=2.8389;FS=126.997;InbreedingCoeff=-0.3739;MLEAC=5;MLEAF=0.25;MQ=35.64;MQRankSum=0.725;QD=2.18;ReadPosRankSum=-1.5;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,7:66:99:.:.:103,0,1771:.	5	0	5	0
chr1	16591991	16591991	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	383	1060	79	0	0	79	0.0359254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0129792	0.0297	0.0079	0.0171	0.0005	0.0368	0.0429	0.0268	0.0118	0.0239389	3701	154602	rs199564458	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	2.238e-05	3.831e-05	0	0	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.003590405	0.00065	T	.	.	.	.	.	.	.	.	.	0.05074882340970097	0.05016	.	.	0.617227673531	0.55337	T	.	.	.	-0.342333	0.05228	T	-0.729514	0.04349	T	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-7.512	0.57695	D	.	.	0.081	0.08465	B	.;.	.;.	-0.110497	0.03581	0.696	0.68576904222900414	0.08701	0.00301	0.01603	N	AEFDBHCIJ	0.037390	0.05136	N	.	.	.	.	.	.	0.99999989870109	0.74766	0.205481	0.04072	1	0.188433	0.04229	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-1.13	0.09274	-3.599000	0.00468	-6.832000	0.01295	-4.637000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.044824	0.040816	0.053134	0.066116	0.050000	0.051724	0.040625	0.027344	0.1	1821.14	721	chr1	16591991	.	C	T	1821.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.34;DP=4193;ExcessHet=0.2348;FS=0.753;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.17;MQRankSum=-3.257;QD=1.35;ReadPosRankSum=-0.074;SOR=0.637	GT:AD:DP:GQ:PL	0/1:594,109:703:99:1191,0,15405	8	0	2	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	5590.45	486	chr1	16757526	.	C	G	5590.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.717;DP=3256;ExcessHet=0.7463;FS=0.637;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=41.16;MQRankSum=-1.526;QD=5.09;ReadPosRankSum=-0.662;SOR=0.603	GT:AD:DP:GQ:PL	0/1:180,145:325:99:3527,0,5056	7	0	3	0
chr1	16759377	16759377	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon8:c.T949C:p.W317R	.	399	1097	25	1	0	27	0.0121567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	.	.	0.0065	0.0094	0.0043	0.0021	0.0065	0.0062	0.0037	0.0104	0.000461	12	26028	rs1806514	0.0001	0.0022	9.6e-05	0.0001	0.0004	9.186e-05	8.712e-05	0.0002	0.0002	0.0004	6.771e-05	7.747e-05	0.0002	7.612e-05	0.0002	9.597e-05	0.0002	8.16e-05	0.0007	0.0055	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0010	0.0012	0.0009	0	0	0.0006	0	0.0005	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	125.14	218	chr1	16759377	.	A	G	125.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.52;DP=1718;ExcessHet=0.2348;FS=6.265;InbreedingCoeff=-0.1106;MLEAC=2;MLEAF=0.1;MQ=52.93;MQRankSum=-7.383;QD=0.31;ReadPosRankSum=-2.476;SOR=1.354	GT:AD:DP:GQ:PL	0/1:181,23:204:99:121,0,4784	8	0	2	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	6195.93	32	chr1	16759590	.	G	GC	6195.93	.	AC=14;AF=0.7;AN=20;BaseQRankSum=4.12;DP=691;ExcessHet=0.6204;FS=9.451;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=43.53;MQRankSum=-1.968;QD=12.62;ReadPosRankSum=-3.002;SOR=0.893	GT:AD:DP:GQ:PL	1/1:0,25:25:75:864,75,0	1	5	4	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	.	.	.	.	.	.	.	.	0.3	4717.98	171	chr1	16760446	.	C	T	4717.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=3.08;DP=2202;ExcessHet=4.5998;FS=15.492;InbreedingCoeff=-0.4285;MLEAC=6;MLEAF=0.3;MQ=45.05;MQRankSum=-0.209;QD=3.2;ReadPosRankSum=-0.377;SOR=1.841	GT:AD:DP:GQ:PL	0/1:205,103:308:99:2273,0,5339	4	0	6	0
chr1	16760964	16760964	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon2:c.T206C:p.M69T	.	338	890	294	0	0	294	0.141755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	.	0.1542	0.1357	0.2256	0.0314	0.1520	0.1481	0.1473	0.2082	0.121253	18746	154602	rs11576695	6.842e-07	2.599e-05	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.568e-06	5.909e-05	0	1.344e-05	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	.	.	.	.	.	.	.	.	0.1	1466.14	574	chr1	16760964	.	A	G	1466.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.883;DP=5788;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.77;MQRankSum=-1.178;QD=1.23;ReadPosRankSum=1.13;SOR=0.705	GT:AD:DP:GQ:PL	0/1:567,86:653:99:526,0,16941	8	0	2	0
chr1	21978396	21978396	G	A	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.G71A:p.R24H	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.0371692555097	7.7e-05	.	0.0002	9.612e-05	0	0	0.0008	0.0003	0	6.069e-05	0.000207	32	154602	rs141038744	0.0016	0.0024	0.0015	0.0017	0.0022	0.0016	0.0016	0.0019	0.0018	0.0004	0.0009	0.0011	0.0004	0.0034	0.0016	0.0016	0.0018	0.0022	0.0036	0.0049	0.0037	0.0034	0.0059	0.0033	0.0032	0.0054	0.0052	0.0008	0	0.0016	0.0023	0.0006	0.0044	0	0.0059	0.0033	0.0035	0.358	0.11994	T	0.229	0.25210	T	0.0	0.02946	B	0.0	0.01387	B	0.007306	0.01163	N	2.529540	1	0.08975	N	1.255	0.31814	L	-2.41	0.88533	D	0.6	0.02518	N	0.154	0.15888	-0.6321	0.63481	T	0.420	0.76556	T	10	0.039126813	0.02379	T	0.037169	0.57449	D	0.319	0.64112	.	.	0.0954503805726	0.09146	0.4556730093205391	0.45485	0.205366021206	0.22955	0.253240227699	0.04116	T	0.00303	0.02432	T	-0.0689393	0.41495	T	-0.336803	0.40707	T	0.0574381133510097	0.06760	T	0.0687931	0.00503	T	0.018113418	0.00333	0.022597525	0.00281	0.018113418	0.00333	0.022597525	0.00281	-5.191	0.38850	T	.	.	0.101	0.17615	B	.	.	0.472177	0.08418	5.173	0.87910613318515318	0.17573	0.00578	0.02610	N	AEFBI	0.085482	0.17329	N	-1.81953427079195	0.00499	0.02148352	-1.92661621036719	0.00433	0.01917433	0.994071141636979	0.33476	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	-10.2	0.00305	-0.243000	0.08933	-1.140000	0.06212	-0.942000	0.02081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1653:0.2878:0.5469:0.0	12.317	0.54285	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	485.43	37	chr1	21978396	.	G	A	485.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=392;ExcessHet=0;FS=18.111;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.1;MQRankSum=-7.5;QD=8.23;ReadPosRankSum=-2.412;SOR=3.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,15:59:99:0|1:21978396_G_A:497,0,1802:21978396	9	0	1	0
chr1	21978398	21978398	C	T	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.C73T:p.P25S	.	417	1095	10	0	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0100996723404	.	.	0.0002	0	0	0	0.0008	0.0002	0	6.068e-05	3.84e-05	1	26028	rs769262423	0.0014	0.0022	0.0013	0.0015	0.0021	0.0013	0.0013	0.0019	0.0018	0.0003	0.0009	0.0011	0.0003	0.0033	0.0016	0.0013	0.0017	0.0021	0.0035	0.0048	0.0036	0.0033	0.0057	0.0032	0.0031	0.0052	0.0051	0.0008	0	0.0015	0.0023	0.0006	0.0045	0	0.0057	0.0033	0.0038	0.052	0.39097	T	0.036	0.52060	D	0.001	0.07471	B	0.002	0.06944	B	0.000056	0.53742	D	0.127744	0.991764	0.23986	N	1.565	0.39561	L	2.31	0.16794	T	-5.7	0.87380	D	0.28	0.31702	-1.0466	0.15361	T	0.038	0.16548	T	10	0.08696371	0.14835	T	0.010	0.26235	T	0.094	0.27141	.	.	0.0611884634855	0.05136	0.7483825438036639	0.74784	0.166043844648	0.18736	0.356677532196	0.18901	T	0.028613	0.20688	T	-0.224454	0.17389	T	-0.560189	0.16359	T	0.120394064784545	0.14468	T	0.257074	0.04045	T	0.14659725	0.33551	0.17140582	0.39321	0.14659725	0.33551	0.17140582	0.39320	-5.632	0.43084	T	.	.	0.123	0.25850	B	.	.	1.775219	0.22574	15.68	0.97385492898801918	0.33696	0.28659	0.23614	N	AEFBI	0.252745	0.37236	N	-0.68952758415734	0.16319	0.8303565	-0.69475238898778	0.17090	0.90722	0.365341940087057	0.19817	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	4.17	0.48303	1.431000	0.34534	1.016000	0.23368	0.524000	0.24156	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.8383:0.1617:0.0	13.200	0.59185	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	485.43	37	chr1	21978398	.	C	T	485.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.21;DP=393;ExcessHet=0;FS=18.111;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.19;MQRankSum=-7.5;QD=8.23;ReadPosRankSum=-2.543;SOR=3.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,15:59:99:0|1:21978396_G_A:497,0,1802:21978396	9	0	1	0
chr1	21978416	21978416	A	C	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.A91C:p.N31H	.	423	1089	10	0	0	10	0.00457038	.	.	.	2812452	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.145	0.00896937710721	.	0.00319489	0.0012	0.0003	0.0024	0.0009	0.0017	0.0010	0.0022	0.0019	0.0014295	221	154602	rs138865928	0.0020	0.0028	0.0018	0.0021	0.0039	0.0019	0.0019	0.0036	0.0034	0.0012	0.0027	0.0030	0.0007	0.0037	0.0019	0.0017	0.0025	0.0039	0.0044	0.0054	0.0046	0.0042	0.0066	0.0041	0.0040	0.0061	0.0059	0.0016	0	0.0028	0.0029	0.0019	0.0048	0	0.0066	0.0048	0.0063	0.059	0.37536	T	0.051	0.47828	T	0.003	0.11197	B	0.025	0.20508	B	0.000001	0.62929	D	0.054773	0.969413	0.38726	D	2.375	0.68372	M	2.17	0.19020	T	-3.33	0.66206	D	0.498	0.53093	-1.0550	0.13040	T	0.072	0.29130	T	10	0.026186883	0.00791	T	0.008969	0.23631	T	0.145	0.38592	.	.	0.0806252709748	0.07271	0.71909276535124	0.71852	0.196614953336	0.22022	0.645078599453	0.59286	T	0.376937	0.74022	T	-0.528434	0.00392	T	-0.538619	0.18431	T	0.0555485125125992	0.06450	T	0.563244	0.19836	T	0.39449894	0.60350	0.30128324	0.56161	0.39449894	0.60350	0.30128324	0.56160	-8.037	0.61322	D	.	.	0.320	0.54514	B	.	.	3.541128	0.49734	22.8	0.989372278766526	0.48864	0.59085	0.30818	D	AEFGBI	0.535722	0.55423	D	-0.159271809040071	0.34843	1.993903	-0.080455807497522	0.36199	2.103598	0.00486843319821761	0.10742	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	5.1	0.68917	1.276000	0.32760	7.862000	0.71495	-0.117000	0.14459	0.003000	0.16062	1.000000	0.68203	0.787000	0.37188	1.0:0.0:0.0:0.0	12.832	0.57132	798	0.45050	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	177.43	37	chr1	21978416	.	A	C	177.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=382;ExcessHet=0;FS=8.085;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.45;MQRankSum=-6.857;QD=3.62;ReadPosRankSum=-3.264;SOR=2.215	GT:AD:DP:GQ:PL	0/1:39,10:49:99:189,0,1165	9	0	1	0
chr1	23868280	23868280	C	G	exonic	FUCA1	.	nonsynonymous SNV	FUCA1:NM_000147:exon1:c.G7C:p.A3P	Fucosidosis, Autosomal recessive	5	1467	47	3	0	53	0.0177436	.	.	YES	280123	not_provided|FUCA1-related_disorder|Fucosidosis	MedGen:C3661900|.|MONDO:MONDO:0009254,MedGen:C0016788,OMIM:230000,Orphanet:349	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.067	.	0.0021	0.0133786	0.0161	0	0.0971	0	0	0.0087	0.0467	0.0181	0.0068498	1059	154602	rs61996282	0.0096	0.0096	0.0096	0.0097	0.0518	0.0095	0.0095	0.0498	0.0490	0.0019	0.0518	0.0013	0.0001	0.0015	0.0106	0.0088	0.0099	0.0157	0.0094	0.0094	0.0088	0.0100	0.0422	0.0090	0.0089	0.0395	0.0385	0.0023	0	0.0422	0.0012	0	0.0013	0.0068	0.0084	0.0118	0.0164	0.174	0.22486	T	0.084	0.41239	T	0.0	0.02946	B	0.001	0.04355	B	0.000389	0.00589	N	4.458410	1	0.08975	N	0.205	0.09354	N	0.63	0.53088	T	-0.34	0.12661	N	0.174	0.18649	-1.0848	0.06444	T	0.021	0.08639	T	10	0.0022031665	0.00032	T	.	.	.	0.067	0.19503	.	.	.	.	0.5235821115694509	0.52282	0.470944129722	0.46361	0.358692973852	0.19194	T	0.072016	0.34349	T	-0.58831	0.00172	T	-0.580599	0.14491	T	0.0198403468811232	0.00686	T	0.251175	0.03802	T	0.085943185	0.19958	0.11733206	0.28325	0.06121017	0.12649	0.10698687	0.25747	-3.762	0.20238	T	.	.	0.080	0.07985	B	.	.	0.094463	0.04974	1.537	0.98163784923902153	0.38797	0.03710	0.08995	N	ALL	0.164038	0.29039	N	-1.26523520428306	0.04101	0.1844868	-1.30639370058685	0.04347	0.2048423	1.0	0.98316	0.437478	0.07067	0	0.218748	0.04544	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.9	-3.58	0.04303	-2.153000	0.01373	-6.841000	0.01293	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2648:0.318:0.1932:0.2239	0.578	0.00661	639	0.64210	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05	1327.43	34	chr1	23868280	.	C	G	1327.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.311;DP=400;ExcessHet=0;FS=1.781;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=1.01;SOR=0.927	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1339,0,1066	9	0	1	0
chr1	24669224	24669224	C	T	exonic	SRRM1	.	nonsynonymous SNV	SRRM1:NM_001366584:exon13:c.C1586T:p.T529M,SRRM1:NM_001366565:exon14:c.C1592T:p.T531M,SRRM1:NM_001366567:exon14:c.C1586T:p.T529M,SRRM1:NM_001366568:exon14:c.C1634T:p.T545M,SRRM1:NM_001366572:exon14:c.C1589T:p.T530M,SRRM1:NM_001366573:exon14:c.C1628T:p.T543M,SRRM1:NM_001366582:exon14:c.C1838T:p.T613M,SRRM1:NM_001366585:exon14:c.C1631T:p.T544M,SRRM1:NM_001366586:exon14:c.C1502T:p.T501M,SRRM1:NM_001366587:exon14:c.C1544T:p.T515M,SRRM1:NM_001366588:exon14:c.C1835T:p.T612M,SRRM1:NM_001366589:exon14:c.C1832T:p.T611M,SRRM1:NM_001366592:exon14:c.C1745T:p.T582M,SRRM1:NM_001366598:exon14:c.C1589T:p.T530M,SRRM1:NM_005839:exon14:c.C1841T:p.T614M,SRRM1:NM_001303448:exon15:c.C1877T:p.T626M,SRRM1:NM_001303449:exon15:c.C1760T:p.T587M,SRRM1:NM_001366566:exon15:c.C1592T:p.T531M,SRRM1:NM_001366569:exon15:c.C1880T:p.T627M,SRRM1:NM_001366570:exon15:c.C1625T:p.T542M,SRRM1:NM_001366571:exon15:c.C1634T:p.T545M,SRRM1:NM_001366575:exon15:c.C1874T:p.T625M,SRRM1:NM_001366576:exon15:c.C1790T:p.T597M,SRRM1:NM_001366577:exon15:c.C1793T:p.T598M,SRRM1:NM_001366581:exon15:c.C1787T:p.T596M,SRRM1:NM_001366590:exon15:c.C1628T:p.T543M,SRRM1:NM_001366591:exon15:c.C1544T:p.T515M,SRRM1:NM_001366593:exon15:c.C1631T:p.T544M,SRRM1:NM_001366594:exon15:c.C1541T:p.T514M,SRRM1:NM_001366595:exon15:c.C1883T:p.T628M,SRRM1:NM_001366596:exon15:c.C1676T:p.T559M,SRRM1:NM_001366597:exon15:c.C1766T:p.T589M,SRRM1:NM_001366599:exon15:c.C1586T:p.T529M,SRRM1:NM_001366578:exon16:c.C1541T:p.T514M,SRRM1:NM_001366600:exon16:c.C1634T:p.T545M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0235109833142	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs778169233	1.915e-05	1.915e-05	1.361e-05	2.475e-05	4.637e-05	1.328e-05	1.144e-05	1.583e-05	9.3e-06	0	0	0	2.519e-05	3.744e-05	0	1.709e-05	3.312e-05	4.637e-05	2.63e-05	2.627e-05	0	5.384e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	9.423e-05	0	4.411e-05	0	0	0.001	0.78490	D	0.222	0.48855	T	0.998	0.73220	D	0.725	0.55077	P	0.000154	0.49130	D	0.088362	0.999204	0.46326	D	1.39	0.34934	L	0.81	0.50459	T	-0.94	0.25118	N	0.434	0.50508	-0.7248	0.59224	T	0.226	0.59058	T	10	0.25996697	0.43440	T	0.023511	0.46474	T	0.222	0.51872	.	.	0.321697908245	0.31786	0.15797648750100976	0.15718	0.505741086259	0.48806	0.649769544601	0.59953	T	0.025315	0.18955	T	-0.0948411	0.37278	T	-0.277155	0.47095	T	0.484872457944312	0.32076	T	0.760524	0.45757	T	0.059699025	0.12165	0.14437342	0.34279	0.059699025	0.12164	0.14437342	0.34278	-4.61	0.32297	T	.	.	0.123	0.44015	B	.;.;.;.	.;.;.;.	3.870043	0.56179	23.7	0.99743664753827377	0.83703	0.93789	0.59195	D	AEFGBI	0.401485	0.47596	N	0.594709776605687	0.72845	5.870037	0.631421721635863	0.77233	6.640189	0.999325065994865	0.39149	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	2.616000	0.46041	5.948000	0.51598	0.596000	0.33519	0.987000	0.36337	1.000000	0.68203	0.896000	0.43308	0.0:1.0:0.0:0.0	20.439	0.99109	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	.	.	.	.	.	.	.	.	0.05	2117.43	34	chr1	24669224	.	C	T	2117.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=504;ExcessHet=0;FS=2.471;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.92;MQRankSum=-0.431;QD=10.97;ReadPosRankSum=0.763;SOR=0.539	GT:AD:DP:GQ:PL	0/1:105,88:193:99:2129,0,2329	9	0	1	0
chr1	26197689	26197689	G	A	exonic	CATSPER4	.	nonsynonymous SNV	CATSPER4:NM_198137:exon4:c.G463A:p.G155S	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	0.0809592570709	7.7e-05	0.000798722	0.0004	0	8.721e-05	0	0	0.0001	0	0.0021	0.0003363	52	154602	rs375444620	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	4.472e-05	0.0010	0	1.872e-05	0.0011	2.698e-05	0.0003	0.0024	9.847e-05	9.842e-05	6.422e-05	0.0001	0.0023	6.001e-05	4.875e-05	0.0013	0.0010	0	0	0	0.0006	0	0	0	2.939e-05	0	0.0023	0.241	0.17643	T	0.043	0.49942	D	1.0	0.90584	D	0.989	0.78396	D	0.001908	0.37691	N	0.118877	0.650852	0.30534	N	1.575	0.39704	L	-4.91	0.98352	D	-2.42	0.53096	N	0.478	0.51315	0.890	0.95536	D	0.928	0.97608	D	10	0.031480014	0.01284	T	0.080959	0.73576	D	0.528	0.80067	.	.	0.898099853859	0.89708	0.8305923145013427	0.83018	0.7076550198	0.61502	0.413335621357	0.26919	T	0.575151	0.85997	D	-0.249859	0.14115	T	-0.136919	0.60384	T	0.0904476493597031	0.11272	T	0.816718	0.47282	T	0.0887797	0.20721	0.13681822	0.32720	0.0887797	0.20721	0.13681822	0.32719	-5.566	0.42481	T	.	.	0.117	0.23848	B	.;.	.;.	4.995215	0.82842	27.9	0.99751138418435781	0.84305	0.60652	0.31257	D	AEFBI	0.120953	0.23539	N	0.376170893085921	0.60132	4.199026	0.335095336439109	0.57613	3.927801	8.84347957961435E-5	0.04703	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.32	3.44	0.38486	2.303000	0.43307	2.208000	0.31344	0.676000	0.76740	0.997000	0.40164	0.908000	0.28083	0.958000	0.51230	0.1987:0.0:0.8013:0.0	7.117	0.24602	412	0.82007	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	0.001512	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	679.43	33	chr1	26197689	.	G	A	679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.072;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.271;SOR=0.628	GT:AD:DP:GQ:PL	0/1:36,30:66:99:691,0,851	9	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	12275.9	45	chr1	26282323	.	A	*	12275.9	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.395;DP=333;ExcessHet=0;FS=12.7;InbreedingCoeff=-0.0526;MLEAC=4;MLEAF=0.2;MQ=59.87;MQRankSum=0;QD=24.48;ReadPosRankSum=-0.278;SOR=1.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,7:47:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:2008,1654,1657:26282320	6	0	4	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	2219.09	64	chr1	26282357	.	CTGGGGCCGGG	*	2219.09	.	AC=14;AF=0.7;AN=20;DP=410;ExcessHet=1.5895;FS=14.029;InbreedingCoeff=-0.25;MLEAC=14;MLEAF=0.7;MQ=60;QD=5.92;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,21:60:99:0|1:26282357_CTGGGGCCGGG_*:2561,1614,1540:26282357	0	4	6	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3598.17	66	chr1	26282374	.	ACC	*	3598.17	.	AC=2;AF=0.125;AN=16;BaseQRankSum=1.01;DP=428;ExcessHet=2.8389;FS=13.45;InbreedingCoeff=-0.4296;MLEAC=2;MLEAF=0.125;MQ=59.76;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.166;SOR=0.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,37:61:99:0|1:26282357_CTGGGGCCGGG_*:1496,0,600:26282357	6	0	2	2
chr1	26344165	26344165	C	A	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.G2493T:p.E831D	.	347	1171	4	0	0	4	0.00170503	.	.	.	3239268	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0025	0	0	0	0	0.0052	0	0.0015	0.0011319	175	154602	rs185540835	0.0044	0.0042	0.0045	0.0044	0.0072	0.0043	0.0043	0.0055	0.0050	0.0007	0.0043	0.0013	0	0.0007	0.0072	0.0051	0.0037	0.0014	0.0034	0.0034	0.0033	0.0035	0.0068	0.0031	0.0030	0.0057	0.0053	0.0010	0	0.0068	0.0012	0	0.0002	0.0102	0.0051	0.0043	0.0008	.	.	.	0.284	0.21411	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.234	0.26354	.	.	.	.	.	.	.	0.0060617626	0.00136	T	.	.	.	.	.	.	.	0.628675003835	0.62564	0.08372301459071398	0.08306	.	.	0.479630947113	0.36005	T	.	.	.	-0.439033	0.01310	T	-0.398571	0.33550	T	.	.	.	0.592841	0.22695	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.36889	B	.;.;.	.;.;.	1.471793	0.18960	14.02	0.99820692556362078	0.90326	0.68077	0.33667	D	AEFBI	.	.	.	.	.	.	.	.	.	0.162355229870598	0.17612	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.27	4.15	0.47978	0.515000	0.22507	-2.401000	0.03800	0.599000	0.40250	0.998000	0.41325	0.000000	0.08366	0.991000	0.66497	0.0:0.8235:0.0:0.1765	10.031	0.41276	361	0.84870	.;.;.	.	.	.	.	.	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	0.004268	0.010204	0.000000	0.003817	0.000000	0.000000	0.003521	0.013274	0.05	2370.43	115	chr1	26344165	.	C	A	2370.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.053;DP=783;ExcessHet=0;FS=2.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=1.6;SOR=0.889	GT:AD:DP:GQ:PL	0/1:59,92:151:99:2382,0,1313	9	0	1	0
chr1	28594038	28594038	G	C	exonic	RAB42	.	nonsynonymous SNV	RAB42:NM_001193532:exon2:c.G578C:p.G193A,RAB42:NM_152304:exon2:c.G239C:p.G80A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0367672750881	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1317642400	2.737e-06	2.736e-06	0	5.501e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.17881	T	0.254	0.23433	T	.	.	.	.	.	.	0.018311	0.27512	N	0.259516	0.674151	0.30337	N	0.805	0.20218	L	-1.29	0.79475	T	-0.53	0.16393	N	0.07	0.04307	-0.8447	0.52331	T	0.223	0.58639	T	10	0.18450806	0.33827	T	0.036767	0.57199	D	0.183	0.45592	.	.	0.801023057265	0.79916	0.5293721705516178	0.52861	0.121108408864	0.13643	0.275127649307	0.06822	T	.	.	.	-0.157368	0.27165	T	-0.463824	0.26184	T	0.118399761617184	0.14273	T	0.651635	0.27458	T	0.042554453	0.06474	0.07671056	0.17018	0.042554453	0.06473	0.07671056	0.17017	-5.091	0.37812	T	.	.	0.112	0.29255	B	.;.	.;.	2.546221	0.32951	19.19	0.94667413983499094	0.25288	0.94367	0.60939	D	AEFDGBHI	0.578270	0.57954	D	-0.333641677393883	0.27878	1.533085	-0.141108469425554	0.33752	1.934031	0.999999986464678	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.26897	0.05253	2	0.664235	0.64389	0	.	.	5.46	3.53	0.39533	3.952000	0.56399	4.168000	0.42254	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.827000	0.38976	0.1745:0.1863:0.6392:0.0	4.887	0.13067	501	0.75956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1179.43	37	chr1	28594038	.	G	C	1179.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.144;DP=429;ExcessHet=0;FS=1.565;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.5;MQRankSum=1.38;QD=11.13;ReadPosRankSum=0.228;SOR=0.578	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1191,0,1453	9	0	1	0
chr1	30953904	30953904	C	T	exonic	PUM1	.	nonsynonymous SNV	PUM1:NM_001020658:exon15:c.G2401A:p.A801T,PUM1:NM_014676:exon15:c.G2401A:p.A801T	.	.	.	.	.	.	.	.	.	.	.	2325393	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.0055857979005	.	.	1.649e-05	0.0002	0	0	0	0	0	0	3.84e-05	1	26028	rs769056716	2.121e-05	2.121e-05	2.722e-05	1.513e-05	5.974e-05	1.52e-05	1.324e-05	1.746e-05	1.503e-05	5.974e-05	0	0	0	0	0	2.518e-05	0	1.159e-05	1.313e-05	1.312e-05	0	2.685e-05	2.406e-05	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0	0	0	0	0.0005	0	0.582	0.05954	T	0.671	0.07267	T	0.014	0.38124	B	0.006	0.38982	B	0.000000	0.84330	D	0.046357	0.999979	0.58761	D	-0.975	0.01213	N	2.26	0.17761	T	0.03	0.06612	N	0.156	0.16168	-0.9204	0.45499	T	0.182	0.52950	T	10	0.08339122	0.13866	T	0.005586	0.14409	T	0.085	0.24743	0.291	0.25241	0.168254554758	0.16434	0.531768137753751	0.53101	0.957206127568	0.72872	0.676646113396	0.63788	T	0.007576	0.35615	T	-0.209378	0.19466	T	-0.538534	0.18440	T	0.129850805056738	0.15368	T	0.693131	0.30283	T	0.08979103	0.20991	0.1914966	0.42611	0.08979103	0.20990	0.1914966	0.42610	-3.639	0.19082	T	.	.	0.066	0.03301	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.838029	0.78954	27.0	0.95148703239728294	0.26279	0.95521	0.65052	D	AEFBI	.	.	.	0.268650997074287	0.54567	3.621961	0.408444976422288	0.62091	4.418745	0.999457264814229	0.39788	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	3.352000	0.51954	2.790000	0.34790	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.998000	0.85391	0.0:1.0:0.0:0.0	19.813	0.96552	946	0.12043	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	973.43	33	chr1	30953904	.	C	T	973.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.35;DP=390;ExcessHet=0;FS=2.915;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.483;SOR=1.033	GT:AD:DP:GQ:PL	0/1:48,38:86:99:985,0,1129	9	0	1	0
chr1	38018559	38018559	G	C	exonic	UTP11	.	nonsynonymous SNV	UTP11:NM_016037:exon4:c.G324C:p.K108N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.0167503973626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0022	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0006	4.502e-05	0.0002	5.069e-05	0	0.0002	0.0007	0.0005	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.19	0.88972	M	.	.	.	-4.29	0.76414	D	0.835	0.83066	-0.2270	0.76966	T	0.449	0.78378	T	9	0.83418137	0.82576	D	0.01675	0.38152	T	0.490	0.77720	0.658	0.79585	0.617871938043	0.61477	0.7476237047205977	0.74708	0.921248380214	0.71459	0.757096290588	0.75498	T	0.412309	0.76651	T	0.0450001	0.57697	T	-0.173137	0.57156	T	0.995210707187653	0.87030	D	0.915408	0.69775	D	0.9537454	0.96647	0.87148213	0.92969	0.9537454	0.96648	0.87148213	0.92969	-9.692	0.72047	D	.	.	0.956	0.87520	P	.	.	3.385722	0.46848	22.4	0.99798773293668863	0.88372	0.86532	0.45832	D	AEFBI	0.315619	0.42014	N	0.307375534586297	0.56526	3.817	0.217027884145324	0.50791	3.267573	0.186501081710576	0.17944	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	2.22	0.27116	0.341000	0.19652	2.649000	0.33803	-0.102000	0.15922	0.995000	0.38783	1.000000	0.68203	0.994000	0.71098	0.729:0.0:0.271:0.0	9.297	0.36983	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	140.44	33	chr1	38018559	.	G	C	140.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.037;DP=537;ExcessHet=0;FS=64.437;InbreedingCoeff=-0.0538;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.357;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,19:133:99:0|1:38018559_G_C:152,0,4525:38018559	9	0	1	0
chr1	38018561	38018564	GGGT	-	exonic	UTP11	.	frameshift deletion	UTP11:NM_016037:exon4:c.326_329del:p.R109Mfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.578e-05	6.777e-05	2.184e-05	9.651e-06	3e-05	1.051e-05	8.78e-06	1.217e-05	1.033e-05	3e-05	0	0	0	0	0	1.894e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	137.39	33	chr1	38018560	.	AGGGT	A	137.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.642;DP=612;ExcessHet=0;FS=60.643;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.212;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,19:134:99:0|1:38018559_G_C:149,0,4567:38018559	9	0	1	0
chr1	38018564	38018564	-	CCCC	exonic	UTP11	.	frameshift insertion	UTP11:NM_016037:exon4:c.329_330insCCCC:p.A111Pfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	155.39	40	chr1	38018564	.	T	TCCCC	155.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.057;DP=574;ExcessHet=0;FS=60.755;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=-0.182;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,19:128:99:0|1:38018559_G_C:167,0,4356:38018559	9	0	1	0
chr1	39322623	39322623	C	A	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon31:c.C4060A:p.L1354M	.	430	1082	10	0	0	10	0.00459982	.	.	.	971333	Spectraplakinopathy_type_I|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.196	0.074181002059	0.0008	0.000199681	0.0011	0.0005	0.0017	0	0.0008	0.0013	0	0.0012	0.0010931	169	154602	rs141025026	0.0011	0.0011	0.0011	0.0012	0.0031	0.0011	0.0011	0.0020	0.0017	0.0003	0.0014	0.0012	0	0.0005	0.0031	0.0012	0.0011	0.0014	0.0009	0.0009	0.0008	0.0009	0.0017	0.0007	0.0007	0.0012	0.0010	0.0002	0	0.0017	0.0014	0	0.0005	0.0034	0.0011	0.0033	0.0004	0.015	0.65419	D	0.078	0.65728	T	0.999	0.77913	D	0.965	0.71173	D	.	.	.	.	0.997146	0.54805	D	.	.	.	-0.43	0.71425	T	-1.13	0.33798	N	0.553	0.57860	-0.1046	0.79993	T	0.501	0.81134	D	9	0.03752166	0.02111	T	0.074181	0.71977	D	0.234	0.53644	.	.	0.676492767695	0.67374	0.24167956163382087	0.24081	.	.	0.780992388725	0.79077	T	0.082777	0.53003	T	-0.143071	0.29403	T	-0.00836763	0.69790	D	0.0589111484587193	0.06996	T	0.928807	0.74741	D	0.28034267	0.51082	0.20437068	0.44558	0.28034267	0.51081	0.20437068	0.44557	-9.351	0.72827	D	.	.	0.212	0.46214	B	.;.;.;.;.;.	.;.;.;.;.;.	3.447765	0.47999	22.5	0.99688708648307756	0.79775	0.96524	0.69570	D	AEFGBCI	0.534732	0.55365	D	0.496658169237262	0.66893	5.009675	0.561872396246422	0.72228	5.776739	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	2.206000	0.42416	0.609000	0.20011	0.599000	0.40250	1.000000	0.71638	0.094000	0.22579	0.997000	0.79791	0.0:1.0:0.0:0.0	20.478	0.99191	560	0.71333	.;.;.;.;.;.	.	.	.	.	.	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	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	2753.43	33	chr1	39322623	.	C	A	2753.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.66;DP=505;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-1.426;SOR=0.783	GT:AD:DP:GQ:PL	0/1:83,106:189:99:2765,0,2160	9	0	1	0
chr1	42735803	42735803	G	C	exonic	CLDN19	.	nonsynonymous SNV	CLDN19:NM_001185117:exon3:c.C616G:p.Q206E	Hypomagnesemia 5, renal, with ocular involvement, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	1274749	Renal_hypomagnesemia_5_with_ocular_involvement|not_provided	MONDO:MONDO:0009548,MedGen:C4721891,OMIM:248190,Orphanet:2196|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.118	0.0151173911199	.	0.000798722	0.0039	0.0021	0	0	0	0.0052	0.0062	0.0036	0.0012678	196	154602	rs199656937	0.0031	0.0030	0.0030	0.0032	0.0106	0.0030	0.0030	0.0085	0.0077	0.0008	0.0014	0.0071	2.794e-05	0.0005	0.0106	0.0033	0.0035	0.0034	0.0017	0.0017	0.0017	0.0018	0.0026	0.0016	0.0015	0.0023	0.0022	0.0006	0	0.0012	0.0040	0	0.0008	0.0103	0.0026	0.0028	0.0017	0.0	0.91255	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.06	0.85875	D	0.34	0.03824	N	0.159	0.16586	-0.8451	0.52304	T	0.243	0.61095	T	9	0.0043708086	0.00089	T	0.015117	0.35666	T	0.118	0.32913	.	.	0.471132149292	0.46741	.	.	.	.	.	.	.	.	.	.	-0.439585	0.01300	T	-0.404081	0.32910	T	0.00960231344622355	0.00125	T	0.382862	0.09330	T	.	.	.	.	.	.	.	.	-4.102	0.25320	T	.	.	0.085	0.10256	B	.	.	0.188582	0.05752	2.194	0.50048909106492712	0.04316	0.12048	0.17027	N	AEFBI	0.116089	0.22798	N	-1.18940987684387	0.05160	0.2345465	-1.17931876156142	0.06256	0.300566	0.945552775036207	0.27666	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.17	0.923	0.18539	-0.409000	0.07223	0.808000	0.21724	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1925:0.0:0.649:0.1585	5.542	0.16333	507	0.75469	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011076	0.016667	0.009915	0.020833	0.000000	0.009615	0.003145	0.007752	0.05	1664.43	33	chr1	42735803	.	G	C	1664.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=457;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.37;SOR=0.69	GT:AD:DP:GQ:PL	0/1:72,61:133:99:1676,0,1863	9	0	1	0
chr1	60040005	60040005	C	T	exonic	C1orf87	.	nonsynonymous SNV	C1orf87:NM_152377:exon5:c.G659A:p.R220H	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00591110923169	0.0019	0.00139776	0.0026	0.0004	0.0013	0.0002	0.0018	0.0028	0.0011	0.0053	0.0023286	360	154602	rs150454796	0.0021	0.0021	0.0020	0.0022	0.0071	0.0020	0.0020	0.0054	0.0048	0.0009	0.0015	0.0100	0.0001	0.0014	0.0071	0.0018	0.0028	0.0045	0.0018	0.0018	0.0019	0.0018	0.0037	0.0016	0.0016	0.0024	0.0020	0.0003	0	0.0020	0.0075	0.0002	0.0025	0.0068	0.0023	0.0024	0.0037	0.676	0.04482	T	0.322	0.19016	T	0.0	0.02946	B	0.001	0.04355	B	0.574333	0.05498	N	1.228140	1	0.08975	N	-0.515	0.02571	N	0.94	0.43672	T	-0.51	0.15986	N	0.021	0.00339	-0.9697	0.37262	T	0.042	0.18076	T	10	0.005159229	0.00112	T	0.005911	0.15400	T	0.047	0.12962	.	.	0.17948927462	0.17512	0.18253245908563692	0.18172	0.0623679061293	0.06938	.	.	.	0.005315	0.04761	T	-0.656427	0.00066	T	-0.715148	0.05033	T	0.000996837629543356	0.00010	T	0.442656	0.12286	T	0.024146888	0.01219	0.043069344	0.05276	0.024146888	0.01218	0.043069344	0.05276	-7.115	0.54868	T	.	.	0.065	0.01810	B	.	.	-2.662912	0.00021	0.001	0.78058247102254086	0.12138	0.00337	0.01752	N	AEFI	0.028525	0.02529	N	-1.86100754950578	0.00412	0.01772754	-1.88722618413857	0.00519	0.02299955	0.963407202579136	0.28688	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.18	-8.79	0.00709	-3.551000	0.00484	-20.000000	0.00162	-1.748000	0.00692	0.000000	0.06391	0.000000	0.08366	0.560000	0.30412	0.0:0.2006:0.0:0.7994	17.217	0.86829	874	0.30607	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.005051	0.008152	0.002924	0.000000	0.000000	0.006098	0.007576	0.1	2473.12	35	chr1	60040005	.	C	T	2473.12	.	AC=2;AF=0.1;AN=20;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.16;SOR=0.742	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2496,246,0	9	1	0	0
chr1	60040099	60040099	G	C	exonic	C1orf87	.	nonsynonymous SNV	C1orf87:NM_152377:exon5:c.C565G:p.P189A	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00719872791336	0.0019	0.00119808	0.0025	0.0004	0.0012	0.0002	0.0018	0.0028	0.0011	0.0050	0.0022639	350	154602	rs11585228	0.0020	0.0020	0.0019	0.0021	0.0071	0.0020	0.0019	0.0054	0.0048	0.0007	0.0015	0.0100	5.038e-05	0.0014	0.0071	0.0018	0.0028	0.0043	0.0018	0.0018	0.0019	0.0017	0.0035	0.0016	0.0016	0.0022	0.0019	0.0003	0	0.0020	0.0075	0.0002	0.0024	0.0068	0.0023	0.0024	0.0035	0.099	0.30656	T	0.0	0.92824	D	0.004	0.12183	B	0.006	0.12133	B	0.608251	0.10892	N	0.808768	1	0.08975	N	2.175	0.60977	M	1.02	0.40749	T	-3.83	0.72120	D	0.084	0.06059	-0.9696	0.37283	T	0.087	0.33662	T	10	0.009225935	0.00208	T	0.007199	0.19089	T	0.049	0.13647	.	.	0.318252033908	0.31440	0.08055325296208754	0.07990	0.051673236916	0.05686	.	.	.	0.020848	0.16341	T	-0.566595	0.00232	T	-0.586384	0.13980	T	0.00977125481276247	0.00128	T	0.49705	0.15447	T	0.07851274	0.17883	0.08221232	0.18746	0.07851274	0.17882	0.08221232	0.18746	-4.108	0.25408	T	.	.	0.099	0.16538	B	.	.	0.207856	0.05916	2.358	0.58454737945237512	0.05997	0.05983	0.11944	N	AEFI	0.070639	0.14031	N	-0.825917449351535	0.12650	0.6179676	-0.913139151063799	0.11783	0.6024245	5.85137247288541E-4	0.07390	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.03	-0.765	0.10468	1.204000	0.31902	0.437000	0.18385	0.676000	0.76740	0.070000	0.22072	0.001000	0.17328	0.020000	0.11549	0.1797:0.2764:0.402:0.1419	2.030	0.03314	874	0.30607	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006054	0.005051	0.008152	0.005848	0.000000	0.000000	0.006135	0.007576	0.1	2321.12	35	chr1	60040099	.	G	C	2321.12	.	AC=2;AF=0.1;AN=20;DP=397;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.8;SOR=1.103	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2344,219,0	9	1	0	0
chr1	60041001	60041001	T	C	exonic	C1orf87	.	nonsynonymous SNV	C1orf87:NM_152377:exon4:c.A473G:p.D158G	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00311631352435	0.0020	0.00119808	0.0025	0.0004	0.0012	0.0002	0.0018	0.0028	0.0011	0.0056	0.0022574	349	154602	rs145230176	0.0020	0.0020	0.0019	0.0021	0.0070	0.0020	0.0019	0.0053	0.0047	0.0007	0.0015	0.0101	2.524e-05	0.0014	0.0070	0.0018	0.0026	0.0043	0.0018	0.0018	0.0019	0.0017	0.0035	0.0016	0.0016	0.0022	0.0019	0.0003	0	0.0020	0.0075	0	0.0025	0.0068	0.0023	0.0024	0.0035	0.704	0.04120	T	0.809	0.03956	T	0.001	0.07471	B	0.002	0.06944	B	0.545901	0.11487	N	0.779066	1	0.08975	N	1.4	0.35362	L	2.23	0.18083	T	-0.88	0.23808	N	0.075	0.04913	-0.9527	0.40503	T	0.025	0.10866	T	10	0.00558576	0.00123	T	0.003116	0.06756	T	0.033	0.08068	.	.	0.139678290688	0.13603	0.1458111418850888	0.14503	0.0654620922164	0.07306	.	.	.	0.002106	0.01509	T	-0.742369	0.00020	T	-0.839009	0.01114	T	0.000320272311906492	0.00003	T	0.432757	0.11777	T	0.048990704	0.08626	0.0663158	0.13568	0.048990704	0.08626	0.0663158	0.13568	-2.906	0.09203	T	.	.	0.075	0.05668	B	.	.	0.055736	0.04680	1.326	0.71697848114821094	0.09717	0.00994	0.03770	N	AEFI	0.031967	0.03522	N	-0.96971236975053	0.09255	0.4372813	-0.929877580288252	0.11391	0.580026	5.61244375151907E-4	0.07335	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.25	0.441	0.15789	-0.251000	0.08837	-0.680000	0.07891	-0.242000	0.07441	0.002000	0.15269	0.000000	0.08366	0.070000	0.16646	0.0:0.5913:0.0:0.4087	7.769	0.28162	876	0.30350	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006061	0.005051	0.008152	0.005848	0.000000	0.000000	0.006173	0.007576	0.1	4252.12	34	chr1	60041001	.	T	C	4252.12	.	AC=2;AF=0.1;AN=20;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.27;SOR=0.917	GT:AD:DP:GQ:PL	1/1:0,136:136:99:4275,407,0	9	1	0	0
chr1	71066821	71066821	G	A	exonic	ZRANB2	.	nonsynonymous SNV	ZRANB2:NM_005455:exon9:c.C884T:p.S295F,ZRANB2:NM_203350:exon9:c.C884T:p.S295F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.0189465933074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.68238	D	0.082	0.44302	T	0.651	0.40707	P	0.174	0.41883	B	.	.	.	.	0.998568	0.45092	D	0.695	0.17993	N	-0.19	0.65931	T	-0.64	0.18670	N	0.374	0.41952	-0.8316	0.53198	T	0.135	0.45010	T	9	0.19049472	0.34695	T	0.018947	0.41175	T	0.215	0.50805	0.291	0.25241	0.187035705434	0.18338	0.38780095115433355	0.38695	0.141070614685	0.15908	0.495897978544	0.38257	T	0.116971	0.43670	T	-0.0232086	0.48394	T	-0.271114	0.47707	T	0.744295532847505	0.42970	D	0.79692	0.44184	T	0.11399384	0.26916	0.23015772	0.48110	0.11399384	0.26916	0.23015772	0.48109	-6.931	0.53529	T	.	.	0.159	0.39305	B	.;.;.	.;.;.	5.063353	0.84412	28.3	0.99647130912056003	0.77068	0.99574	0.97595	D	AEFGBI	0.890028	0.82468	D	0.424570282885654	0.62776	4.499272	0.580820763597451	0.73566	5.99142	0.99999999999978	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.84	5.84	0.93373	9.602000	0.97623	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.144	0.98070	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	.	.	.	.	.	.	.	.	0.1	5307.12	34	chr1	71066821	.	G	A	5307.12	.	AC=2;AF=0.1;AN=20;DP=501;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.53;SOR=0.853	GT:AD:DP:GQ:PL	1/1:0,186:186:99:5330,557,0	9	1	0	0
chr1	77521899	77521899	G	A	exonic	AK5	.	nonsynonymous SNV	AK5:NM_012093:exon12:c.G1306A:p.G436S,AK5:NM_174858:exon12:c.G1384A:p.G462S	.	.	.	.	.	.	.	.	.	.	.	3273149	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.858	0.362026542618	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866311885	7.529e-06	8.209e-06	1.09e-05	4.128e-06	0.0003	4.04e-06	2.95e-06	6.098e-05	2.523e-05	0	2.246e-05	0	2.52e-05	0	0.0003	3.598e-06	3.314e-05	1.161e-05	4.601e-05	4.597e-05	2.569e-05	6.729e-05	0.0002	2.11e-05	1.527e-05	5.287e-05	2.835e-05	0	0	0.0002	0	0.0002	0	0	4.409e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.999	0.77913	D	0.971	0.72444	D	0.000214	0.47681	D	0.080797	1	0.81001	D	3.885	0.96017	H	-1.88	0.84487	D	-4.37	0.77061	D	0.669	0.67908	0.800	0.94414	D	0.792	0.92966	D	10	0.92787874	0.92133	D	0.362027	0.92535	D	0.858	0.95655	0.8	0.91946	0.848803182647	0.84735	0.9252631224669388	0.92503	0.699216201544	0.61017	0.481403291225	0.36250	T	0.616421	0.87916	D	0.301115	0.83060	D	0.258	0.86018	D	0.997174382209778	0.90938	D	0.917608	0.70392	D	0.9033801	0.91687	0.84006304	0.90842	0.9033801	0.91688	0.84006304	0.90843	-11.131	0.80371	D	.	.	0.143	0.35372	B	.;.	.;.	4.958883	0.81980	27.7	0.99867623920440307	0.94547	0.97842	0.77538	D	AEFDBI	0.828609	0.74767	D	0.847755363253981	0.88980	9.787087	0.717365645725497	0.83699	8.090376	0.999719443896797	0.42101	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.76	3.85	0.43556	7.543000	0.81054	6.503000	0.55788	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0862:0.0:0.9138:0.0	12.134	0.53267	644	0.63734	Adenylate kinase, 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	.	.	.	.	.	.	.	.	0.05	1568.43	33	chr1	77521899	.	G	A	1568.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=438;ExcessHet=0;FS=3.214;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.923;SOR=0.442	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1580,0,1572	9	0	1	0
chr1	81990481	81990481	G	T	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_012302:exon20:c.G3548T:p.G1183V,ADGRL2:NM_001297704:exon21:c.G3548T:p.G1183V,ADGRL2:NM_001330645:exon21:c.G3587T:p.G1196V,ADGRL2:NM_001366002:exon21:c.G3548T:p.G1183V,ADGRL2:NM_001350698:exon23:c.G3728T:p.G1243V,ADGRL2:NM_001366005:exon24:c.G3746T:p.G1249V,ADGRL2:NM_001366006:exon24:c.G3746T:p.G1249V,ADGRL2:NM_001366003:exon28:c.G3728T:p.G1243V,ADGRL2:NM_001366004:exon28:c.G3728T:p.G1243V	.	425	1055	42	0	0	42	0.0195167	.	.	.	3211183	ADGRL2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.362	.	0.0008	0.00259585	0.0021	9.61e-05	0.0005	0	0	0.0013	0.0055	0.0091	0.0018305	283	154602	rs143448377	0.0014	0.0014	0.0011	0.0016	0.0102	0.0013	0.0013	0.0083	0.0081	0.0001	0.0008	0.0030	2.519e-05	9.36e-05	0.0102	0.0008	0.0020	0.0088	0.0010	0.0010	0.0009	0.0011	0.0091	0.0009	0.0008	0.0070	0.0062	0.0002	0	0.0010	0.0012	0.0002	9.414e-05	0.0102	0.0010	0.0028	0.0091	0.001	0.78490	D	0.05	0.48594	T	0.995	0.67487	D	0.929	0.66367	D	0.000338	0.45700	D	0.187285	1	0.81001	D	.	.	.	-0.46	0.70597	T	-4.03	0.76740	D	0.684	0.70878	-0.8069	0.54736	T	0.191	0.54359	T	10	0.0074394643	0.00169	T	.	.	.	0.539	0.80723	.	.	0.082315109003	0.07666	0.4814075198055706	0.48060	0.567196384469	0.52991	0.55849480629	0.47055	T	0.067859	0.82202	T	-0.247787	0.14371	T	-0.122308	0.61613	T	0.141194857536656	0.16377	T	0.914708	0.73561	D	0.56956995	0.71037	0.5168769	0.72086	0.56956995	0.71038	0.5168769	0.72087	-3.675	0.22542	T	.	.	0.162	0.37633	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.611038	0.51059	23.0	0.99109637766004166	0.52699	0.92818	0.56620	D	AEFGBCI	0.951242	0.96562	D	0.221703935337338	0.52252	3.400531	0.261948915020974	0.53333	3.502685	0.999349580085339	0.39222	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.53	4.6	0.56512	7.460000	0.79850	8.639000	0.77885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.483000	0.28633	0.0:0.1392:0.8607:0.0	16.018	0.80255	963	0.08280	GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal;.;.;GPCR, family 2, latrophilin, C-terminal;.;.;.;GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.006793	0.014620	0.050000	0.017241	0.015244	0.011364	0.1	3669.14	33	chr1	81990481	.	G	T	3669.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.601;DP=623;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=0.71;SOR=0.702	GT:AD:DP:GQ:PL	0/1:90,83:173:99:2096,0,2286	8	0	2	0
chr1	81990915	81990915	C	G	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_012302:exon20:c.C3982G:p.P1328A,ADGRL2:NM_001297704:exon21:c.C3982G:p.P1328A,ADGRL2:NM_001330645:exon21:c.C4021G:p.P1341A,ADGRL2:NM_001366002:exon21:c.C3982G:p.P1328A,ADGRL2:NM_001350698:exon23:c.C4162G:p.P1388A,ADGRL2:NM_001366005:exon24:c.C4180G:p.P1394A,ADGRL2:NM_001366006:exon24:c.C4180G:p.P1394A,ADGRL2:NM_001366003:exon28:c.C4162G:p.P1388A,ADGRL2:NM_001366004:exon28:c.C4162G:p.P1388A	.	438	1046	37	1	0	39	0.0183013	.	.	.	3210903	ADGRL2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0008	0.00239617	0.0018	9.617e-05	0.0005	0	0	0.0012	0.0055	0.0076	0.0016171	250	154602	rs142267708	0.0012	0.0012	0.0010	0.0015	0.0087	0.0012	0.0012	0.0072	0.0070	0.0001	0.0008	0.0030	0	9.361e-05	0.0087	0.0008	0.0019	0.0077	0.0009	0.0009	0.0008	0.0009	0.0077	0.0008	0.0007	0.0057	0.0051	0.0002	0	0.0009	0.0012	0.0002	9.407e-05	0.0102	0.0009	0.0024	0.0077	0.375	0.18061	T	0.206	0.27056	T	0.128	0.27003	B	0.075	0.28327	B	0.159877	0.17697	N	0.561955	1	0.81001	D	.	.	.	-0.42	0.70717	T	-2.27	0.50666	N	0.302	0.34120	-0.9602	0.39143	T	0.114	0.40650	T	10	0.0053347647	0.00117	T	.	.	.	0.112	0.31546	.	.	0.082315109003	0.07666	0.4140615702400013	0.41322	0.11031533871	0.12446	0.379887998104	0.22241	T	0.056903	0.80086	T	-0.416679	0.01797	T	-0.366741	0.37271	T	0.0454788217630323	0.04690	T	0.911709	0.69400	D	0.048075262	0.08320	0.07846932	0.17579	0.048075262	0.08320	0.07846932	0.17578	-4.424	0.32472	T	.	.	0.079	0.11461	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.688237	0.21508	15.23	0.84900520384378553	0.15565	0.43642	0.27143	N	AEFBCI	0.589979	0.58665	D	0.00965783698767059	0.42293	2.545568	-0.00654706581580577	0.39417	2.336899	0.999451034309693	0.39788	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	4.688000	0.61403	4.927000	0.46095	0.599000	0.40250	0.296000	0.25288	0.578000	0.25607	0.855000	0.40485	0.0:1.0:0.0:0.0	18.884	0.92338	963	0.08280	GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal;.;.;GPCR, family 2, latrophilin, C-terminal;.;.;.;GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.006793	0.011696	0.050000	0.017241	0.009146	0.011364	0.1	3478.14	33	chr1	81990915	.	C	G	3478.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.88;DP=592;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-1.267;SOR=0.67	GT:AD:DP:GQ:PL	0/1:93,68:161:99:1726,0,2431	8	0	2	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1448.14	72	chr1	85158757	.	C	G	1448.14	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.334;DP=723;ExcessHet=15.1594;FS=160.488;InbreedingCoeff=-0.8658;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.981;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,20:99:99:.:.:173,0,2025:.	3	0	7	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	4548.25	276	chr1	86580219	.	ACCTACT	*	4548.25	.	AC=14;AF=0.7;AN=20;BaseQRankSum=-0.525;DP=2733;ExcessHet=2.8389;FS=1.255;InbreedingCoeff=-0.3333;MLEAC=14;MLEAF=0.7;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=0.846;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,130:283:99:.:.:4678,0,5685:.	1	5	4	0
chr1	92181416	92181416	C	T	exonic	BTBD8	.	stopgain	BTBD8:NM_015237:exon6:c.C2194T:p.R732X,BTBD8:NM_001376131:exon17:c.C3733T:p.R1245X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.717e-06	5.472e-06	7.05e-06	4.347e-06	0.0001	2.46e-06	1.78e-06	3.81e-05	2.257e-05	0	0.0001	0	0	0	0	2.781e-06	1.724e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000060	0.53742	D	0.169313	1	0.81001	A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58478	0.97200	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	6.124902	0.94616	34	0.99626952133364644	0.75776	0.83106	0.42252	D	AEFBI	0.311278	0.41706	N	0.284604695312993	0.55366	3.700878	0.105486272672471	0.44829	2.757123	6.42486347469596E-4	0.07527	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.06	1.11	0.19640	1.361000	0.33740	0.613000	0.20051	-0.554000	0.04884	0.998000	0.41325	0.372000	0.24573	0.492000	0.28837	0.6304:0.2458:0.1238:0.0	7.155	0.24807	736	0.53558	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1461.43	91	chr1	92181416	.	C	T	1461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.712;DP=636;ExcessHet=0;FS=1.419;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.507;SOR=0.624	GT:AD:DP:GQ:PL	0/1:68,57:125:99:1473,0,1715	9	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1444.51	152	chr1	99884396	.	T	C	1444.51	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.239;DP=804;ExcessHet=2.8389;FS=173.721;InbreedingCoeff=-0.358;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.61;ReadPosRankSum=1.43;SOR=9.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,39:131:99:0|1:99884396_T_C:490,0,2959:99884396	5	0	5	0
chr1	109189129	109189129	C	T	exonic	ELAPOR1	.	nonsynonymous SNV	ELAPOR1:NM_001284353:exon3:c.C269T:p.T90M,ELAPOR1:NM_001267048:exon8:c.C1022T:p.T341M,ELAPOR1:NM_001284352:exon9:c.C977T:p.T326M,ELAPOR1:NM_020775:exon10:c.C1283T:p.T428M	.	.	.	.	.	.	.	.	.	.	.	4131933	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00637030867073	.	.	.	.	.	.	.	.	.	.	.	.	.	rs970365265	1.095e-05	1.094e-05	9.529e-06	1.238e-05	0.0002	6.48e-06	5.24e-06	8.862e-05	6.428e-05	0	0.0002	0	0	0	0	5.396e-06	0	2.319e-05	6.572e-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	0.089	0.37118	T	0.115	0.36630	T	0.379	0.47190	B	0.105	0.32546	B	0.000716	0.42254	N	0.270150	0.714256	0.33550	D	1.52	0.38360	L	2.77	0.11407	T	-1.03	0.27052	N	0.213	0.23758	-0.9137	0.46390	T	0.008	0.02926	T	10	0.094215244	0.16736	T	0.00637	0.16754	T	0.042	0.11227	0.378	0.39319	0.221734844693	0.21761	0.5606580053653603	0.55992	0.204845354841	0.22904	0.263759672642	0.05346	T	0.04212	0.26081	T	-0.335573	0.05701	T	-0.522833	0.20008	T	0.417057663202286	0.29582	T	0.670533	0.27914	T	0.026877368	0.01803	0.076602995	0.16982	0.026877368	0.01803	0.076602995	0.16982	-5.539	0.51183	T	.	.	0.067	0.05890	B	.;.;.	.;.;.	1.247258	0.16435	12.54	0.9577584339761086	0.27791	0.15476	0.18930	N	AEFGBI	0.179243	0.30652	N	-0.487172936272917	0.22501	1.201877	-0.456171813073306	0.23374	1.274339	0.999678442744809	0.41644	0.446893	0.09132	0	0.563428	0.19063	0	0.467745	0.07146	0	0.613276	0.41899	0	.	.	5.12	2.27	0.27501	0.061000	0.14242	-1.030000	0.06551	-0.192000	0.09343	0.002000	0.15269	0.000000	0.08366	0.916000	0.45140	0.0:0.6747:0.0:0.3253	7.991	0.29403	663	0.61610	Tyrosine-protein kinase ephrin type A/B receptor-like;Tyrosine-protein kinase ephrin type A/B receptor-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	.	.	.	.	.	.	.	.	0.05	2685.43	33	chr1	109189129	.	C	T	2685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.445;DP=539;ExcessHet=0;FS=1.015;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.175;SOR=0.623	GT:AD:DP:GQ:PL	0/1:111,115:226:99:2697,0,2640	9	0	1	0
chr1	109267923	109267923	A	G	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon17:c.A6181G:p.N2061D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0122084112041	.	.	.	.	.	.	.	.	.	.	.	.	.	rs894102886	2.056e-06	3.42e-06	1.364e-06	2.755e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.657e-05	0	1.313e-05	1.313e-05	0	2.688e-05	0.0001	2.18e-06	8.2e-07	2.259e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.28	0.15509	T	0.275	0.22016	T	0.987	0.61912	D	0.929	0.66367	D	.	.	.	.	0.997109	0.43633	D	1.335	0.33326	L	2.95	0.09635	T	-1.82	0.42763	N	0.461	0.49783	-1.0648	0.10596	T	0.026	0.11353	T	9	0.3225911	0.49607	T	0.012208	0.30578	T	0.087	0.25287	0.314	0.28935	0.597789299623	0.59458	0.7934630304048191	0.79299	0.754964615035	0.63972	0.715742588043	0.69426	T	0.121805	0.44502	T	-0.203038	0.20368	T	-0.529426	0.19343	T	0.902167499065399	0.55506	D	0.829317	0.49436	T	0.11180729	0.26419	0.14239168	0.33876	0.11180729	0.26419	0.14239168	0.33875	-3.955	0.23128	T	0.5917808756049618	0.65858	0.311	0.53846	B	.	.	4.615629	0.73244	26.0	0.99062464252381899	0.51528	0.93431	0.58198	D	AEFDGBIJ	0.483214	0.52375	N	0.450707773379622	0.64242	4.674485	0.433783992577685	0.63681	4.606943	0.999999851818937	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	4.38	4.38	0.52019	5.717000	0.68096	9.289000	0.79777	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.9017:0.0:0.0983:0.0	8.774	0.33910	789	0.46346	GAIN domain, 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	.	.	.	.	.	.	.	.	0.05	1225.43	33	chr1	109267923	.	A	G	1225.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.863;DP=436;ExcessHet=0;FS=1.588;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=1.5;SOR=0.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,54:106:99:1|0:109267922_C_A:1237,0,2022:109267922	9	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	.	.	.	.	.	.	.	.	0.3571	1445.29	96	chr1	109508616	.	G	C	1445.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.994;DP=840;ExcessHet=2.8389;FS=240.489;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.91;ReadPosRankSum=1.33;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,19:86:99:0|1:109508616_G_C:308,0,2186:109508616	2	0	5	3
chr1	109508617	109508617	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A296G:p.N99S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00377047473703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	2.726e-06	1.377e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.03134	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.023848	0.26367	N	0.283710	0.744098	0.29705	N	-1.225	0.00812	N	4.52	0.01997	T	0.92	0.01573	N	0.044	0.04072	-0.9142	0.46325	T	0.001	0.00318	T	10	0.027937263	0.00931	T	0.00377	0.08775	T	0.152	0.39956	0.237	0.16760	0.21174354426	0.20776	0.18114392568070153	0.18033	0.765883629124	0.64500	0.483428955078	0.36529	T	0.005866	0.05316	T	-0.395562	0.02475	T	-0.805974	0.01758	T	0.0602567331267085	0.07209	T	0.826617	0.49005	T	0.038544018	0.05153	0.047732275	0.06941	0.038544018	0.05153	0.047732275	0.06940	-0.373	0.00511	T	.	.	0.064	0.01884	B	.;.	.;.	1.840698	0.23383	16.00	0.57174240635056761	0.05711	0.18455	0.20267	N	AEFBCI	0.212306	0.33801	N	-0.740697034335553	0.14888	0.7454824	-0.519573181039383	0.21622	1.170563	0.989457814758624	0.31831	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	4.99	0.65942	-0.133000	0.10430	2.868000	0.35247	0.665000	0.62972	0.001000	0.13787	1.000000	0.68203	1.000000	0.97212	0.0:0.0899:0.1832:0.7269	5.179	0.14477	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	364.14	97	chr1	109508617	.	T	C	364.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.063;DP=649;ExcessHet=0.2348;FS=164.258;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2;ReadPosRankSum=1.17;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,9:85:38:0|1:109508616_G_C:38,0,3031:109508616	8	0	2	0
chr1	109508618	109508618	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A295G:p.N99D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00431994233541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.098	0.39040	T	0.046	0.21875	B	0.204	0.37039	B	0.023848	0.26367	N	0.283710	0.837229	0.28680	N	-0.135	0.04517	N	4.32	0.02387	T	-0.65	0.18877	N	0.264	0.35301	-0.9012	0.47868	T	0.003	0.00832	T	10	0.09139174	0.16007	T	0.00432	0.10498	T	0.050	0.13987	0.302	0.27003	0.35421846163	0.35036	0.42623265837729346	0.42540	1.16636633486	0.79636	0.593713998795	0.52018	T	0.016495	0.13623	T	-0.33	0.06112	T	-0.711798	0.05203	T	0.54811829328537	0.34407	D	0.660634	0.26999	T	0.10292237	0.24323	0.1119965	0.27018	0.10292237	0.24322	0.1119965	0.27018	-2.193	0.04007	T	.	.	0.145	0.32079	B	.;.	.;.	1.909142	0.24245	16.33	0.98833880806686136	0.47002	0.33936	0.24948	N	AEFBCI	0.215332	0.34070	N	-0.58773012198282	0.19317	1.009999	-0.480569429772215	0.22688	1.233631	0.896117992834435	0.25970	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	2.58	0.30011	-0.458000	0.06813	0.851000	0.22138	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	1.000000	0.97212	0.1294:0.0:0.2917:0.5789	6.884	0.23373	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	214.45	96	chr1	109508618	.	T	C	214.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.512;DP=634;ExcessHet=0.7463;FS=90.79;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=1.12;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,9:85:38:0|1:109508616_G_C:38,0,3031:109508616	7	0	3	0
chr1	111488886	111488886	A	G	exonic	TMIGD3	.	nonsynonymous SNV	TMIGD3:NM_001081976:exon3:c.T353C:p.I118T,TMIGD3:NM_020683:exon3:c.T596C:p.I199T	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0103976899152	.	0.000199681	1.648e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs527326365	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	1.314e-05	1.312e-05	1.285e-05	1.343e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.089	0.32141	T	0.002	0.79402	D	.	.	.	.	.	.	0.025861	0.26018	N	0.279570	0.963864	0.26006	N	.	.	.	3.53	0.04852	T	-0.62	0.37566	N	0.383	0.51048	-0.8812	0.49665	T	0.143	0.46422	T	10	0.20946658	0.37310	T	0.010398	0.26893	T	0.082	0.23913	0.569	0.69167	0.455816718377	0.45207	0.3837026637559841	0.38285	0.0370465282371	0.03928	0.593487381935	0.51987	T	0.073652	0.34749	T	-0.182105	0.23422	T	-0.499357	0.22414	T	0.294925600290298	0.24794	T	0.659534	0.26859	T	0.09212726	0.21605	0.08971146	0.20995	0.09212726	0.21604	0.08971146	0.20995	-8.694	0.75342	D	.	.	0.177	0.38623	B	.;.	.;.	2.261805	0.28903	17.95	0.86002481916251139	0.16249	0.63673	0.32163	D	AEFBI	0.139174	0.26069	N	0.0167682739938382	0.42618	2.571261	0.014937016510841	0.40407	2.410998	0.999830165856239	0.43792	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.15	4.04	0.46262	1.603000	0.36404	2.119000	0.30708	0.756000	0.94297	0.867000	0.30739	0.001000	0.17328	0.007000	0.07825	0.8981:0.0:0.1019:0.0	6.857	0.23228	614	0.66605	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1817.43	36	chr1	111488886	.	A	G	1817.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.33;DP=461;ExcessHet=0;FS=2.249;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.621;SOR=0.919	GT:AD:DP:GQ:PL	0/1:58,73:131:99:1829,0,1529	9	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	722.66	82	chr1	112913901	.	C	G	722.66	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.427;DP=779;ExcessHet=1.5895;FS=141.989;InbreedingCoeff=-0.276;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.02;ReadPosRankSum=2.09;SOR=7.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,29:107:99:.:.:415,0,1875:.	6	0	4	0
chr1	113590573	113590573	T	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.T853C:p.Y285H,MAGI3:NM_152900:exon5:c.T853C:p.Y285H	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	0.0067	0.00219649	0.0054	0.0029	0.0013	0	0.0114	0.0079	0.0055	0.0005	0.0058214	900	154602	rs149597924	0.0087	0.0087	0.0090	0.0085	0.0104	0.0086	0.0086	0.0102	0.0101	0.0031	0.0020	0.0024	0	0.0110	0.0024	0.0104	0.0058	0.0004	0.0062	0.0062	0.0060	0.0063	0.0089	0.0058	0.0057	0.0083	0.0080	0.0031	0.0033	0.0027	0.0026	0	0.0127	0.0034	0.0089	0.0080	0.0006	0.425	0.19854	T	0.522	0.15305	T	0.988	0.62325	D	0.854	0.60866	P	0.000003	0.62929	D	0.110120	0.992614	0.41694	D	1.59	0.40313	L	2.56	0.15724	T	-0.87	0.23808	N	0.614	0.63035	-1.0862	0.06191	T	0.037	0.15856	T	10	0.005224645	0.00114	T	.	.	.	0.147	0.38986	.	.	0.143184338766	0.13958	0.33790276454343116	0.33703	0.708216348336	0.61539	0.708433866501	0.68366	T	0.065746	0.32768	T	-0.44851	0.01153	T	-0.404706	0.32837	T	0.0251914156434318	0.01298	T	0.89741	0.64114	D	0.14065352	0.32443	0.103441365	0.24820	0.14065352	0.32442	0.103441365	0.24820	-7.689	0.71498	D	.	.	0.269	0.50343	B	.;.;.;.	.;.;.;.	4.057024	0.60177	24.2	0.99651975829445139	0.77380	0.90619	0.51945	D	AEDI	0.351985	0.44490	N	0.218484437815439	0.52095	3.385954	0.230442361398615	0.51546	3.336086	0.873763235308425	0.25472	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.77	0.60425	5.472000	0.66496	6.164000	0.54386	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0682:0.0:0.9318	11.867	0.51774	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.010101	0.004076	0.002924	0.000000	0.008621	0.003049	0.000000	0.05	1707.43	33	chr1	113590573	.	T	C	1707.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.644;DP=433;ExcessHet=0;FS=7.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=1.7;SOR=0.318	GT:AD:DP:GQ:PL	0/1:53,68:121:99:1719,0,1353	9	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	.	.	.	.	.	.	.	.	0.5	2536.04	155	chr1	114732648	.	C	G	2536.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.921;DP=1438;ExcessHet=22.563;FS=272.517;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=1.34;SOR=12.553	GT:AD:DP:GQ:PL	0/1:80,54:134:99:427,0,1168	0	0	10	0
chr1	120449333	120449333	A	G	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.A919G:p.R307G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325220470	5.623e-05	0.0001	3.412e-05	7.856e-05	0.0005	4.621e-05	4.247e-05	0.0003	0.0003	0	0.0001	0	0.0001	0	0.0004	2.524e-05	6.64e-05	0.0005	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	9.69e-05	0.0008	0.0006	4.809e-05	0.0011	6.533e-05	0.0003	0.0008	0	0	0.0001	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	968.43	91	chr1	120449333	.	A	G	968.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.011;DP=980;ExcessHet=0;FS=29.139;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.36;MQRankSum=1.75;QD=4.02;ReadPosRankSum=1.6;SOR=1.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,38:241:99:0|1:120449333_A_G:980,0,8347:120449333	9	0	1	0
chr1	120449334	120449334	G	T	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.G920T:p.R307I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297465870	5.623e-05	0.0001	3.276e-05	7.994e-05	0.0005	4.621e-05	4.247e-05	0.0004	0.0003	0	0.0001	0	7.559e-05	0	0.0004	2.524e-05	6.64e-05	0.0005	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	9.691e-05	0.0008	0.0006	4.809e-05	0.0011	6.533e-05	0.0003	0.0008	0	0	0.0001	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	968.43	91	chr1	120449334	.	G	T	968.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.9;DP=979;ExcessHet=0;FS=29.139;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.42;MQRankSum=1.75;QD=4.02;ReadPosRankSum=1.87;SOR=1.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,38:241:99:0|1:120449333_A_G:980,0,8347:120449333	9	0	1	0
chr1	120809823	120809823	A	G	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon4:c.A506G:p.D169G	.	439	1055	23	5	0	33	0.015399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403692093	0.0004	0.0004	0.0003	0.0005	0.0046	0.0004	0.0004	0.0035	0.0034	0	0.0006	0.0003	0	0	0.0046	0.0001	0.0009	0.0039	0.0003	0.0003	0.0002	0.0004	0.0034	0.0002	0.0002	0.0021	0.0017	0	0	0.0003	0.0003	0.0002	0	0.0037	0.0003	0.0016	0.0034	.	.	.	0.039	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.31925	.	.	.	.	.	.	.	0.061215937	0.07641	T	.	.	.	.	.	.	.	.	.	0.03205359752714085	0.03153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682032	0.29067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.40952	B	.;.;.;.;.	.;.;.;.;.	0.622834	0.09910	6.672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.086000	0.11198	-0.420000	0.09290	-0.536000	0.04945	0.094000	0.22667	0.000000	0.08366	0.003000	0.05239	.	.	.	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	7697.53	33	chr1	120809823	.	A	G	7697.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.388;DP=867;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=44.97;MQRankSum=4.33;QD=26.64;ReadPosRankSum=1.34;SOR=0.684	GT:AD:DP:GQ:PL	1/1:6,139:145:99:3971,235,0	8	2	0	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	864.97	118	chr1	145872713	.	C	G	864.97	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.812;DP=1235;ExcessHet=4.5998;FS=146.997;InbreedingCoeff=-0.4278;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.198;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,16:106:86:0|1:145872713_C_G:86,0,3032:145872713	4	0	6	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	816.97	118	chr1	145872714	.	C	G	816.97	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.066;DP=1182;ExcessHet=4.5998;FS=151.643;InbreedingCoeff=-0.4278;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.04;SOR=10.074	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,16:106:86:0|1:145872713_C_G:86,0,3032:145872713	4	0	6	0
chr1	145994976	145994976	C	G	exonic	TXNIP	.	nonsynonymous SNV	TXNIP:NM_001313972:exon3:c.G362C:p.G121A,TXNIP:NM_006472:exon4:c.G527C:p.G176A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.88	0.23884	T	-4.89	0.81431	D	0.924	0.92784	.	.	.	.	.	.	.	0.9178163	0.91140	D	.	.	.	.	.	.	.	.	.	0.9961424302840691	0.99612	.	.	.	.	.	0.408319	0.76368	T	.	.	.	.	.	.	.	.	.	0.944306	0.83579	D	.	.	.	.	.	.	.	.	-11.37	0.83767	D	.	.	0.985	0.92114	P	.;.	.;.	4.940421	0.81522	27.6	.	.	.	.	.	.	0.931454	0.92031	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.420000	0.73257	7.623000	0.62394	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	.	.	.	958	0.09170	Arrestin C-terminal-like domain|Arrestin C-terminal-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	.	.	.	.	.	.	.	.	0.05	2936.43	34	chr1	145994976	.	C	G	2936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.652;DP=511;ExcessHet=0;FS=1.822;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.013;SOR=0.542	GT:AD:DP:GQ:PL	0/1:78,115:193:99:2948,0,2048	9	0	1	0
chr1	146069594	146069594	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon82:c.G10252A:p.A3418T,NBPF10:NM_001302371:exon86:c.G10759A:p.A3587T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.000149198330203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.049e-05	9.243e-05	4.262e-05	7.842e-05	0.0005	5.003e-05	4.609e-05	0.0003	0.0003	0	0	0	0	0	0.0002	4.13e-05	1.727e-05	0.0005	8.16e-06	2.671e-05	0	1.681e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.029	0.54541	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.20129	.	.	.	.	.	.	.	0.083289355	0.13838	T	.	.	.	.	.	.	.	.	.	0.004073885125280471	0.00382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732227	0.34774	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.58697	A	.;.	.;.	-0.410275	0.02174	0.213	.	.	.	.	.	.	0.019863	0.00729	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.178000	0.03203	-9.304000	0.00839	-1.327000	0.01220	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	258.43	47	chr1	146069594	.	C	T	258.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.169;DP=704;ExcessHet=0;FS=0.828;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.38;MQRankSum=-4.727;QD=1.97;ReadPosRankSum=2.66;SOR=0.811	GT:AD:DP:GQ:PL	0/1:106,25:131:99:270,0,2763	9	0	1	0
chr1	146994534	146994534	C	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon37:c.C4333G:p.L1445V	.	439	995	80	8	0	96	0.0460211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.00878594	0.0133	0.0008	0.0125	0	0.0008	0.0115	0.0275	0.0385	0.0105367	1629	154602	rs200424287	0.0097	0.0097	0.0089	0.0105	0.0367	0.0096	0.0095	0.0320	0.0301	0.0017	0.0071	0.0172	0	0.0012	0.0367	0.0087	0.0129	0.0303	0.0070	0.0070	0.0067	0.0073	0.0296	0.0066	0.0065	0.0256	0.0241	0.0012	0	0.0057	0.0208	0	0.0007	0.0136	0.0098	0.0130	0.0296	.	.	.	0.04	0.53072	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.25867	-0.9640	0.38409	T	0.008	0.02968	T	6	0.0031640828	0.00053	T	.	.	.	.	.	.	.	.	.	1.2685876947599533E-4	0.00011	.	.	.	.	.	0.022672	0.17437	T	-0.596757	0.00153	T	-0.603517	0.12517	T	0.00373065755183608	0.00040	T	0.717528	0.33152	T	0.070765465	0.15614	0.07999147	0.18057	0.070765465	0.15614	0.07999147	0.18056	-3.886	0.22092	T	.	.	0.242	0.47600	B	.;.;.;.;.;.	.;.;.;.;.;.	0.664702	0.10331	7.061	0.74286934923283787	0.10639	0.12687	0.17419	N	AEFCI	0.077979	0.15723	N	-0.49473663388212	0.22253	1.186899	-0.71056478873505	0.16698	0.884545	1.28053174850038E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.429	0.429	0.15721	0.830000	0.27115	-4.642000	0.02055	-0.678000	0.04252	0.008000	0.17931	0.000000	0.08366	0.001000	0.02609	.	.	.	803	0.44167	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	5762.14	143	chr1	146994534	.	C	G	5762.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.39;DP=835;ExcessHet=0.2348;FS=0.795;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=54.43;MQRankSum=7.59;QD=15.08;ReadPosRankSum=0.205;SOR=0.743	GT:AD:DP:GQ:PL	0/1:30,108:138:99:3045,0,654	8	0	2	0
chr1	148117694	148117694	T	C	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon11:c.A1184G:p.N395S,NBPF11:NM_001385470:exon11:c.A1184G:p.N395S,NBPF11:NM_001385477:exon11:c.A959G:p.N320S,NBPF11:NM_001385480:exon11:c.A959G:p.N320S,NBPF11:NM_001101663:exon12:c.A1184G:p.N395S,NBPF11:NM_001385469:exon12:c.A1184G:p.N395S,NBPF11:NM_001385475:exon12:c.A1184G:p.N395S,NBPF11:NM_001385479:exon12:c.A959G:p.N320S,NBPF11:NM_183372:exon12:c.A1184G:p.N395S,NBPF11:NM_001385471:exon13:c.A1184G:p.N395S,NBPF11:NM_001385474:exon13:c.A1184G:p.N395S,NBPF11:NM_001385478:exon13:c.A959G:p.N320S,NBPF11:NM_001385472:exon14:c.A1184G:p.N395S,NBPF11:NM_001385473:exon14:c.A1184G:p.N395S,NBPF11:NM_001385476:exon14:c.A1184G:p.N395S	.	736	780	6	0	0	6	0.00383142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000516502707967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355498339	8.823e-06	0.0001	4.669e-06	1.254e-05	0.0002	2.06e-06	1.39e-06	2.88e-05	1.201e-05	0.0002	0	0	3.212e-05	0	0	3.691e-06	0	0	0.0004	0.0015	0.0005	0.0003	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0	0	0.0002	0	0	5.109e-05	0.0006	0	.	.	.	0.118	0.36233	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.62	0.41497	L	.	.	.	.	.	.	0.069	0.04426	-0.9845	0.33951	T	0.007	0.02558	T	8	0.08626592	0.14647	T	0.001028	0.01144	T	.	.	.	.	0.438701194649	0.43488	0.009462545994910832	0.00909	.	.	.	.	.	0.192754	0.54800	T	-0.22476	0.17349	T	-0.560628	0.16319	T	0.138356238589353	0.16132	T	0.414459	0.10821	T	0.059404626	0.12068	0.08127603	0.18457	0.059404626	0.12068	0.08127603	0.18457	-8.742	0.66021	D	.	.	0.103	0.29806	B	.;.;.;.	.;.;.;.	-0.086864	0.03718	0.764	0.19961925675828007	0.00697	0.00063	0.00458	N	AEFI	0.026487	0.01998	N	-1.02295796950048	0.08129	0.3800761	-1.33272578966305	0.04014	0.1884419	3.60146663870197E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.118	-0.237	0.12417	-4.286000	0.00296	-20.000000	0.00162	-1.968000	0.00471	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	48.61	23	chr1	148117694	.	T	C	48.61	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.51;DP=158;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1293;MLEAC=2;MLEAF=0.1;MQ=25.26;MQRankSum=-1.753;QD=1.52;ReadPosRankSum=-0.748;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:26:0|1:148117692_C_G:26,0,540:148117692	8	0	2	0
chr1	148120681	148120681	C	T	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon9:c.G808A:p.V270I,NBPF11:NM_001385470:exon9:c.G808A:p.V270I,NBPF11:NM_001385477:exon9:c.G583A:p.V195I,NBPF11:NM_001385480:exon9:c.G583A:p.V195I,NBPF11:NM_001101663:exon10:c.G808A:p.V270I,NBPF11:NM_001385469:exon10:c.G808A:p.V270I,NBPF11:NM_001385475:exon10:c.G808A:p.V270I,NBPF11:NM_001385479:exon10:c.G583A:p.V195I,NBPF11:NM_183372:exon10:c.G808A:p.V270I,NBPF11:NM_001385471:exon11:c.G808A:p.V270I,NBPF11:NM_001385474:exon11:c.G808A:p.V270I,NBPF11:NM_001385478:exon11:c.G583A:p.V195I,NBPF11:NM_001385472:exon12:c.G808A:p.V270I,NBPF11:NM_001385473:exon12:c.G808A:p.V270I,NBPF11:NM_001385476:exon12:c.G808A:p.V270I	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00169904562949	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1237737551	0.0004	0.0004	0.0003	0.0004	0.0021	0.0004	0.0003	0.0019	0.0018	0.0001	0.0002	0	0.0008	7.491e-05	0.0007	0.0003	0.0006	0.0021	0.0004	0.0004	0.0004	0.0004	0.0031	0.0003	0.0003	0.0019	0.0016	0.0002	0	0.0001	0	0.0031	0	0	0.0003	0.0005	0.0023	.	.	.	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.355	0.33814	L	.	.	.	.	.	.	0.108	0.09349	-0.9128	0.46505	T	0.004	0.01400	T	7	0.024328679	0.00665	T	0.001699	0.02830	T	.	.	0.129	0.03412	0.0551355673512	0.04727	0.007768515961441434	0.00741	.	.	.	.	.	0.009983	0.09054	T	-0.259042	0.13013	T	-0.609873	0.11996	T	0.13418101831985	0.15763	T	0.542646	0.18460	T	0.06716865	0.14520	0.08114281	0.18415	0.06716865	0.14520	0.08114281	0.18414	-3.455	0.15807	T	.	.	0.100	0.19357	B	.;.;.;.	.;.;.;.	-0.132671	0.03450	0.637	0.6027177137814862	0.06423	0.00067	0.00479	N	AEFI	0.022668	0.01163	N	-0.925877009486483	0.10239	0.4883756	-1.15243550706744	0.06724	0.3246325	1.13787496935436E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	-2.145000	0.01382	-14.523000	0.00400	-0.801000	0.03157	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1242.43	34	chr1	148120681	.	C	T	1242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.3;DP=477;ExcessHet=0;FS=10.832;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.02;MQRankSum=-10.17;QD=8.02;ReadPosRankSum=2.19;SOR=1.499	GT:AD:DP:GQ:PL	0/1:101,54:155:99:1254,0,2458	9	0	1	0
chr1	148595576	148595576	C	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon1:c.G142T:p.A48S	.	463	1053	6	0	0	6	0.00284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263755885	0.0040	0.0046	0.0041	0.0039	0.0219	0.0039	0.0039	0.0205	0.0200	0.0219	0.0048	0.0005	0.0195	0.0006	0.0026	0.0033	0.0036	0.0011	0.0090	0.0095	0.0094	0.0086	0.0238	0.0086	0.0084	0.0225	0.0220	0.0238	0	0.0044	0.0009	0.0097	0.0002	0.0037	0.0037	0.0050	0.0004	.	.	.	0.026	0.59159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.94	0.03408	T	.	.	.	0.113	0.22357	.	.	.	.	.	.	.	0.007470727	0.00170	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523348	0.20399	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.41783	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.377542	0.02298	0.242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.197000	0.09519	-0.348000	0.09765	-0.771000	0.03446	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	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	.	.	.	.	.	.	.	.	0.1111	1295.43	.	chr1	148595576	.	C	A	1295.43	.	AC=2;AF=0.111;AN=18;DP=321;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=32.31;QD=26.99;SOR=2.03	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1317,144,0	8	1	0	1
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	7396.95	178	chr1	149075685	.	C	A	7396.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=1.26;DP=3367;ExcessHet=7.0302;FS=5.633;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=47.89;MQRankSum=-6.342;QD=2.9;ReadPosRankSum=-2.292;SOR=1.254	GT:AD:DP:GQ:PL	0/1:275,83:358:99:1301,0,7383	3	0	7	0
chr1	149480153	149480153	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon4:c.G505A:p.D169N	.	492	1028	2	0	0	2	0.000971817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00139915521415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1392428854	0.0001	8.467e-05	8.865e-05	0.0002	0.0009	0.0001	0.0001	0.0007	0.0006	0	0.0002	0	0	0	0	3.141e-05	0.0002	0.0009	3.44e-05	3.294e-05	1.341e-05	5.652e-05	0.0011	1.306e-05	8.31e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0011	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.194	0.21319	-0.8983	0.48165	T	0.003	0.01092	T	7	0.10662776	0.19768	T	0.001399	0.02062	T	.	.	0.13	0.03494	0.0401082797425	0.02173	.	.	.	.	0.570006608963	0.48679	T	0.026546	0.19622	T	-0.283243	0.10327	T	-0.644636	0.09334	T	0.265221042936845	0.23542	T	0.737426	0.35417	T	0.062510714	0.13064	0.08752906	0.20351	0.062510714	0.13064	0.08752906	0.20351	-4.548	0.31512	T	.	.	0.098	0.23113	B	.;.;.;.	.;.;.;.	1.326132	0.17306	13.09	0.97254530871457434	0.33061	0.00606	0.02697	N	AEFI	0.034243	0.04207	N	-0.729092651482331	0.15208	0.7643901	-0.974325723053326	0.10363	0.5215131	1.10942770519523E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	.	.	.	-1.174000	0.03214	-0.556000	0.08502	-0.898000	0.02344	0.071000	0.22100	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) 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	.	.	.	.	.	.	.	.	0.05	870.43	33	chr1	149480153	.	G	A	870.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.563;DP=380;ExcessHet=0;FS=0.912;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=29.62;MQRankSum=0.787;QD=12.61;ReadPosRankSum=0.348;SOR=0.876	GT:AD:DP:GQ:PL	0/1:35,34:69:99:882,0,785	9	0	1	0
chr1	149488149	149488149	G	C	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon9:c.G1177C:p.E393Q	.	530	962	28	2	0	32	0.0163599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00060867098707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1474159899	0.0034	0.0026	0.0020	0.0046	0.0225	0.0033	0.0032	0.0215	0.0211	0.0002	0.0014	0.0040	0	0.0002	0.0141	0.0010	0.0026	0.0225	0.0013	0.0014	0.0012	0.0015	0.0187	0.0012	0.0011	0.0152	0.0140	0.0002	0	0.0011	0.0054	0	0	0.0070	0.0010	0.0021	0.0187	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.14622	-1.0889	0.05718	T	0.035	0.15074	T	9	0.0548667	0.05907	T	6.09E-4	0.00289	T	.	.	0.821	0.93395	0.0666544352282	0.05500	.	.	.	.	0.57171189785	0.48920	T	0.014894	0.12595	T	-0.0565468	0.43446	T	-0.319002	0.42685	T	0.621665894985199	0.37274	D	0.722728	0.39577	T	0.046422713	0.07767	0.05308705	0.08876	0.046422713	0.07767	0.05308705	0.08875	-9.616	0.71579	D	.	.	0.245	0.47923	B	.;.	.;.	0.888687	0.12623	9.147	0.98128739072125104	0.38498	0.01707	0.05422	N	AEFI	0.030943	0.03210	N	-0.304474474754588	0.28978	1.602928	-0.640070078323218	0.18468	0.9866734	1.56385238301757E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	0.698	0.698	0.17247	0.194000	0.16941	-0.724000	0.07692	0.184000	0.17816	0.006000	0.17386	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.803	0.12670	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	338.15	23	chr1	149488149	.	G	C	338.15	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.7;DP=161;ExcessHet=0.2348;FS=6.1;InbreedingCoeff=-0.1114;MLEAC=2;MLEAF=0.1;MQ=37.89;MQRankSum=-0.552;QD=10.25;ReadPosRankSum=0.458;SOR=2.16	GT:AD:DP:GQ:PL	0/1:11,4:15:99:101,0,295	8	0	2	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	550.24	308	chr1	152214827	.	A	*	550.24	.	AC=6;AF=0.3;AN=20;BaseQRankSum=4.01;DP=1774;ExcessHet=10.3881;FS=42.431;InbreedingCoeff=-0.6665;MLEAC=6;MLEAF=0.3;MQ=27.67;MQRankSum=2.78;QD=0.34;ReadPosRankSum=-3.783;SOR=9.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,48:230:99:0|1:152214826_GATCC_G:1339,0,7418:152214826	4	0	6	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	470.2	308	chr1	152214830	.	C	*	470.2	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.142;DP=1764;ExcessHet=10.3881;FS=42.67;InbreedingCoeff=-0.6665;MLEAC=6;MLEAF=0.3;MQ=27.6;MQRankSum=2.83;QD=0.3;ReadPosRankSum=-4.464;SOR=9.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,48:230:99:0|1:152214826_GATCC_G:1339,0,7418:152214826	4	0	6	0
chr1	152219623	152219623	A	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.T2006C:p.F669S	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.00279553	0.0009	0	0.0002	0	0	4.495e-05	0	0.0061	0.0007956	123	154602	rs77790012	0.0004	0.0005	0.0002	0.0006	0.0064	0.0004	0.0004	0.0059	0.0058	0	2.264e-05	0	0.0001	0	0.0002	6.338e-06	0.0004	0.0064	0.0003	0.0004	0.0002	0.0004	0.0096	0.0002	0.0002	0.0072	0.0064	2.695e-05	0	0	0	0.0002	0	0	3.363e-05	0	0.0096	0.125	0.27310	T	0.709	0.05544	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.325	0.00090	N	4.37	0.02277	T	2.95	0.00148	N	0.094	0.07398	-0.9944	0.31459	T	0.001	0.00255	T	9	0.005220473	0.00114	T	.	.	.	0.034	0.08419	.	.	0.295623431141	0.29171	0.033653172035226414	0.03313	.	.	0.560231804848	0.47300	T	0.013727	0.11817	T	-0.410801	0.01963	T	-0.827863	0.01300	T	0.021996538704179	0.00908	T	0.142786	0.01162	T	0.029769693	0.02527	0.0867597	0.20122	0.029769693	0.02526	0.0867597	0.20121	2.422	0.00035	T	.	.	0.069	0.03093	B	.	.	-0.250657	0.02843	0.398	0.56543394743680775	0.05575	0.00010	0.00151	N	AEFBI	0.010405	0.00074	N	-1.43805631999196	0.02312	0.1019549	-1.35977285290676	0.03692	0.1727441	7.52600819089051E-5	0.04552	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.44	2.52	0.29514	-0.631000	0.05593	.	.	-1.235000	0.01322	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1177:0.0:0.8823:0.0	8.714	0.33561	570	0.70478	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001586	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.1111	559.37	407	chr1	152219623	.	A	G	559.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=6.43;DP=3906;ExcessHet=0.2348;FS=7.179;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=59;MQRankSum=-16.71;QD=0.56;ReadPosRankSum=-6.535;SOR=1.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:494,41:535:90:0|1:152219623_A_G:90,0,20569:152219623	7	0	2	1
chr1	152219626	152219626	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A2003G:p.D668G	.	424	1094	2	0	2	4	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00115791171022	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	0.00073	19	26028	rs201373508	8.49e-06	0.0001	9.849e-06	7.115e-06	3.53e-05	4.53e-06	3.58e-06	9.38e-06	4.6e-06	0	0	0	0	0	0	7.41e-06	1.742e-05	3.53e-05	4.634e-05	0.0002	7.256e-05	1.895e-05	0.0002	1.755e-05	1.184e-05	3.046e-05	1.262e-05	3.18e-05	0	0.0002	0	0	0	0	4.303e-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	N	-2.49	0.00058	N	3.82	0.03728	T	1.88	0.00467	N	0.075	0.04913	-0.9305	0.44066	T	0.001	0.00287	T	9	0.023259073	0.00603	T	0.001158	0.01459	T	0.022	0.04323	.	.	0.134241683229	0.13084	0.025996270308110095	0.02550	.	.	0.479595899582	0.36001	T	0.01356	0.11709	T	-0.417779	0.01767	T	-0.837887	0.01131	T	0.0233545887119417	0.01065	T	0.194581	0.02117	T	0.026619844	0.01743	0.05906723	0.11022	0.026619844	0.01743	0.05906723	0.11022	1.939	0.00055	T	.	.	0.092	0.13503	B	.	.	-0.821274	0.01066	0.046	0.43249806253065387	0.03243	0.00199	0.01145	N	AEFBI	0.017387	0.00452	N	-1.79079954483704	0.00568	0.02446565	-1.8032040271601	0.00749	0.03338449	3.23504371043759E-4	0.06540	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.44	-4.87	0.02893	-2.060000	0.01480	.	.	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4184:0.2235:0.3581	5.561	0.16427	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	.	.	.	.	.	.	.	.	0.1429	591.24	407	chr1	152219626	.	T	C	591.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=7.01;DP=4096;ExcessHet=0.2348;FS=8.947;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.143;MQ=58.33;MQRankSum=-17.18;QD=0.58;ReadPosRankSum=-8.356;SOR=1.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:500,42:542:75:0|1:152219623_A_G:75,0,20769:152219623	5	0	2	3
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	.	.	.	.	.	.	.	.	0.2778	1110.25	41	chr1	153760378	.	C	G	1110.25	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-2.62;DP=1190;ExcessHet=2.8389;FS=304.04;InbreedingCoeff=-0.3798;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=1.05;SOR=11.598	GT:AD:DP:GQ:PL	0/1:76,42:118:99:204,0,1039	4	0	5	1
chr1	155736985	155736985	G	A	exonic	DAP3	.	nonsynonymous SNV	DAP3:NM_001199850:exon11:c.G931A:p.V311I,DAP3:NM_001199851:exon11:c.G910A:p.V304I,DAP3:NM_004632:exon12:c.G1033A:p.V345I,DAP3:NM_033657:exon12:c.G1033A:p.V345I,DAP3:NM_001199849:exon13:c.G1033A:p.V345I	.	429	1075	16	2	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0048	0.00279553	0.0052	0.0019	0.0066	0.0002	0.0014	0.0071	0.0121	0.0022	0.0051552	797	154602	rs41264967	0.0061	0.0061	0.0060	0.0061	0.0189	0.0060	0.0059	0.0160	0.0149	0.0017	0.0054	0.0033	2.52e-05	0.0014	0.0189	0.0069	0.0067	0.0026	0.0050	0.0050	0.0050	0.0049	0.0094	0.0047	0.0046	0.0081	0.0076	0.0014	0	0.0094	0.0035	0	0.0009	0.0102	0.0075	0.0062	0.0019	0.133	0.29029	T	0.073	0.43344	T	0.562	0.38380	P	0.369	0.43514	B	0.000002	0.62929	N	0.059383	0.999979	0.81001	D	2.12	0.58754	M	0.44	0.56609	T	-0.82	0.22508	N	0.144	0.15469	-0.9405	0.42536	T	0.109	0.39509	T	10	0.006095886	0.00137	T	.	.	.	0.078	0.22779	.	.	0.177238962908	0.17366	0.5527289742262145	0.55198	0.285031543082	0.30913	0.424291908741	0.28427	T	0.157525	0.50016	T	-0.475524	0.00786	T	-0.450706	0.27618	T	0.0373678571600398	0.03221	T	0.760924	0.47282	T	0.041589677	0.06152	0.053059533	0.08865	0.041589677	0.06152	0.053059533	0.08864	-3.823	0.26534	T	.	.	0.092	0.20780	B	.;.;.;.;.;.	.;.;.;.;.;.	3.455295	0.48139	22.6	0.99417193392196113	0.63597	0.95591	0.65334	D	AEFGBI	0.664566	0.63369	D	0.19180980770286	0.50805	3.26717	0.282922501680218	0.54541	3.618891	0.775429456120125	0.23744	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	4.35	0.51454	5.446000	0.66347	7.197000	0.57788	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0803:0.0:0.9197:0.0	12.782	0.56859	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	0.012588	0.005051	0.023098	0.014620	0.050000	0.017241	0.003049	0.015152	0.05	1044.43	35	chr1	155736985	.	G	A	1044.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=411;ExcessHet=0;FS=1.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.087;SOR=0.909	GT:AD:DP:GQ:PL	0/1:55,40:95:99:1056,0,1448	9	0	1	0
chr1	156244810	156244810	G	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.C44T:p.S15L,PAQR6:NM_001272112:exon4:c.C44T:p.S15L,PAQR6:NM_001272113:exon4:c.C44T:p.S15L,PAQR6:NM_001272110:exon6:c.C44T:p.S15L,PAQR6:NM_001272111:exon6:c.C44T:p.S15L	.	404	1060	53	5	0	63	0.0288594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.00539137	0.0075	0.0028	0.0040	0.0013	0.0013	0.0082	0.0103	0.0155	0.007115	1100	154602	rs62001925	0.0076	0.0076	0.0073	0.0079	0.0232	0.0075	0.0074	0.0200	0.0188	0.0018	0.0053	0.0135	0.0006	0.0010	0.0232	0.0074	0.0097	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0017	0.0006	0.0340	0.0076	0.0114	0.0170	.	.	.	.	.	.	0.083	0.24734	B	0.017	0.18140	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.0033493936	0.00058	T	.	.	.	.	.	.	.	0.458101713262	0.45433	.	.	.	.	.	.	.	0.00487	0.04291	T	-0.438103	0.01327	T	-0.389108	0.34655	T	.	.	.	0.320168	0.06459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.56442	A	.;.;.	.;.;.	1.484603	0.19108	14.09	0.89943610925400397	0.19240	0.35978	0.25427	N	AEFDGBCI	0.008851	0.00045	N	.	.	.	.	.	.	0.999988333354985	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.88	-1.29	0.08805	0.152000	0.16120	-0.014000	0.13018	-0.667000	0.04321	0.974000	0.34632	0.019000	0.20708	0.966000	0.53164	0.6058:0.0:0.3942:0.0	9.663	0.39134	293	0.88320	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.000000	0.008174	0.026316	0.000000	0.017241	0.030488	0.026515	0.1	1764.14	35	chr1	156244810	.	G	A	1764.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.24;DP=437;ExcessHet=0.2348;FS=8.795;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-1.079;SOR=1.167	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1116,0,916	8	0	2	0
chr1	156244850	156244850	C	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.G4T:p.A2S,PAQR6:NM_001272112:exon4:c.G4T:p.A2S,PAQR6:NM_001272113:exon4:c.G4T:p.A2S,PAQR6:NM_001272108:exon5:c.G338T:p.G113V,PAQR6:NM_001272107:exon6:c.G353T:p.G118V,PAQR6:NM_001272110:exon6:c.G4T:p.A2S,PAQR6:NM_001272111:exon6:c.G4T:p.A2S,PAQR6:NM_024897:exon6:c.G353T:p.G118V,PAQR6:NM_001272104:exon7:c.G671T:p.G224V,PAQR6:NM_198406:exon7:c.G671T:p.G224V,PAQR6:NM_001272105:exon8:c.G662T:p.G221V	.	411	1053	53	5	0	63	0.0290456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0077	0.00539137	0.0075	0.0027	0.0041	0.0013	0.0013	0.0081	0.0104	0.0155	0.007031	1087	154602	rs34514408	0.0075	0.0075	0.0072	0.0078	0.0231	0.0074	0.0074	0.0199	0.0187	0.0018	0.0053	0.0135	0.0006	0.0010	0.0231	0.0073	0.0096	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0015	0.0006	0.0340	0.0076	0.0114	0.0170	0.167	0.23095	T	0.492	0.11479	T	0.019	0.17989	B	0.054	0.25828	B	0.033899	0.24840	N	0.457104	0.999514	0.47363	D	0.55	0.14455	N	1.83	0.24841	T	-0.68	0.21860	N	0.204	0.22614	-1.0048	0.28517	T	0.011	0.04227	T	10	0.003630519	0.00066	T	.	.	.	0.052	0.14661	.	.	0.0482279557977	0.04254	0.32600190541541246	0.32513	0.334413534742	0.35461	0.279182732105	0.07379	T	0.007823	0.07202	T	-0.421076	0.01683	T	-0.364649	0.37514	T	0.00801896257458957	0.00095	T	0.876612	0.58915	D	0.11884558	0.27995	0.081639044	0.18570	0.11884558	0.27994	0.081639044	0.18570	-3.89	0.22152	T	.	.	0.261	0.49548	B	.;.;.;.	.;.;.;.	0.764935	0.11347	7.965	0.85823210976325426	0.16135	0.26439	0.22993	N	AEFDGBHCI	0.240262	0.36208	N	-0.82651249844731	0.12635	0.6171331	-0.711710759728758	0.16670	0.8829094	0.999997013756232	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.64	2.7	0.31007	-0.096000	0.11027	-0.102000	0.11930	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.840000	0.39645	0.0:0.5923:0.3213:0.0864	7.627	0.27385	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.005051	0.009511	0.023392	0.000000	0.017241	0.024390	0.026515	0.1	1221.14	35	chr1	156244850	.	C	A	1221.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.303;DP=410;ExcessHet=0.2348;FS=2.507;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1.28;SOR=1.02	GT:AD:DP:GQ:PL	0/1:36,35:71:99:854,0,877	8	0	2	0
chr1	156266009	156266009	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1489T:p.R497W,SMG5:NM_001323614:exon12:c.C1627T:p.R543W,SMG5:NM_015327:exon12:c.C1627T:p.R543W,SMG5:NM_001323616:exon13:c.C1429T:p.R477W,SMG5:NM_001323617:exon13:c.C1429T:p.R477W	.	424	1041	53	4	0	61	0.0284648	.	.	.	696155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0071	0.00419329	0.0066	0.0016	0.0043	0.0001	0.0012	0.0082	0.0088	0.0102	0.0064035	990	154602	rs34377219	0.0073	0.0073	0.0071	0.0074	0.0224	0.0071	0.0071	0.0192	0.0180	0.0013	0.0055	0.0153	0.0001	0.0010	0.0224	0.0073	0.0092	0.0116	0.0055	0.0056	0.0058	0.0053	0.0118	0.0052	0.0051	0.0094	0.0085	0.0014	0.0220	0.0067	0.0144	0.0002	0.0006	0.0340	0.0076	0.0095	0.0118	0.006	0.61437	D	0.018	0.59732	D	0.476	0.36665	P	0.153	0.34292	B	0.290797	0.14772	N	0.672822	1	0.30179	N	0	0.06538	N	1.4	0.33630	T	-2.03	0.46673	N	0.316	0.35620	-1.0481	0.14932	T	0.026	0.11131	T	10	0.0035678446	0.00064	T	.	.	.	0.048	0.13305	.	.	0.176862962021	0.17281	0.1836607337102502	0.18285	0.413816520075	0.42075	0.314859569073	0.12643	T	0.057437	0.30565	T	-0.512611	0.00485	T	-0.499711	0.22378	T	0.0143363421666053	0.00286	T	0.858514	0.54939	D	0.07342955	0.16406	0.09569561	0.22706	0.07342955	0.16406	0.09569561	0.22705	-6.201	0.47931	T	.	.	0.091	0.13315	B	.	.	4.092404	0.60962	24.3	0.99873603549208556	0.95076	0.77767	0.38276	D	AEFGBCI	0.454368	0.50710	N	0.0271364480227597	0.43090	2.608939	0.194113991504032	0.49524	3.154545	0.999994183624492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	2.468000	0.44759	6.509000	0.55803	0.676000	0.76740	0.969000	0.34210	0.999000	0.35428	0.985000	0.61073	0.0:0.0:0.8388:0.1612	13.027	0.58226	290	0.88477	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.000000	0.006793	0.026316	0.000000	0.017241	0.030488	0.030303	0.1	3420.14	35	chr1	156266009	.	G	A	3420.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.22;DP=549;ExcessHet=0.2348;FS=8.743;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.787;SOR=1.107	GT:AD:DP:GQ:PL	0/1:65,94:159:99:2587,0,1488	8	0	2	0
chr1	156286326	156286326	G	A	exonic	TMEM79	.	nonsynonymous SNV	TMEM79:NM_032323:exon3:c.G824A:p.R275Q	.	424	1095	2	1	0	4	0.00182315	.	.	.	3346718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0073702272211	.	0.000199681	9.884e-05	0	0	0	0	8.991e-05	0	0.0004	8.41e-05	13	154602	rs563432840	9.029e-05	9.029e-05	7.487e-05	0.0001	0.0010	7.756e-05	7.299e-05	0.0005	0.0004	2.987e-05	4.472e-05	0	0	1.872e-05	0.0010	5.755e-05	0.0001	0.0006	5.909e-05	5.906e-05	5.139e-05	6.713e-05	0.0002	3.075e-05	2.208e-05	2.846e-05	1.858e-05	4.812e-05	0	0	0	0	0	0.0034	7.35e-05	0	0.0002	0.204	0.20078	T	0.068	0.44106	T	1.0	0.90584	D	0.963	0.70837	D	0.000023	0.55875	D	0.119737	0.881298	0.81001	D	0.805	0.20218	L	0.81	0.48460	T	-0.75	0.21003	N	0.348	0.38950	-0.9853	0.33760	T	0.092	0.35228	T	10	0.11419988	0.21478	T	0.00737	0.19550	T	0.121	0.33580	0.178	0.08503	0.681910643822	0.67920	0.5500008909859297	0.54926	0.514453030111	0.49391	0.419773578644	0.27804	T	0.010794	0.09711	T	-0.317163	0.07132	T	-0.343928	0.39899	T	0.136413872241974	0.15962	T	0.810819	0.46223	T	0.1695698	0.37482	0.11221706	0.27075	0.1695698	0.37481	0.11221706	0.27074	-4.527	0.31240	T	.	.	0.080	0.08705	B	.;.	.;.	4.084862	0.60795	24.3	0.99928683316686795	0.99222	0.93565	0.58564	D	AEFBI	0.111304	0.22041	N	0.43651303808014	0.63442	4.578004	0.510910853603495	0.68723	5.259655	0.999986309560583	0.51787	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.93	4.97	0.65419	2.595000	0.45861	4.490000	0.43568	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1544:0.8456:0.0	13.698	0.62073	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	0.004028	0.005051	0.000000	0.000000	0.000000	0.008621	0.012195	0.011364	0.05	1291.43	37	chr1	156286326	.	G	A	1291.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.267;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.443;SOR=0.724	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1303,0,1005	9	0	1	0
chr1	157521164	157521164	C	A	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon11:c.G2368T:p.D790Y,FCRL5:NM_031281:exon11:c.G2368T:p.D790Y	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.00308278874523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.007	0.69154	D	0.99	0.63424	D	0.805	0.58399	P	0.000004	0.00162	N	9.161920	1	0.08975	N	3.65	0.94181	H	3.88	0.03570	T	-2.45	0.53577	N	0.461	0.49783	-1.0359	0.18575	T	0.020	0.08407	T	10	0.47874936	0.60302	T	0.003083	0.06666	T	0.177	0.44549	0.599	0.72984	0.215869574891	0.21205	0.6032734905686179	0.60258	0.445249767331	0.44419	0.317561626434	0.13051	T	0.004145	0.03552	T	-0.143905	0.29269	T	-0.444486	0.28306	T	0.981991112232208	0.74231	D	0.748325	0.36895	T	0.26618183	0.49687	0.161177	0.37504	0.26618183	0.49687	0.161177	0.37503	-8.832	0.66609	D	.	.	0.167	0.36752	B	.	.	1.842110	0.23403	16.00	0.74596532273866234	0.10754	0.03973	0.09385	N	AEFDBI	0.053980	0.09774	N	-0.593100787822683	0.19154	1.000198	-0.887737345457211	0.12383	0.6367052	0.145564031409397	0.17351	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.34	-4.23	0.03530	-0.344000	0.07829	-4.167000	0.02304	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.289:0.0:0.711	11.976	0.52383	856	0.34373	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2524.43	34	chr1	157521164	.	C	A	2524.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.978;DP=535;ExcessHet=0;FS=0.487;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.693;SOR=0.701	GT:AD:DP:GQ:PL	0/1:122,104:226:99:2536,0,2903	9	0	1	0
chr1	159886658	159886658	C	T	exonic	CFAP45	.	nonsynonymous SNV	CFAP45:NM_012337:exon6:c.G620A:p.R207Q	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.0241635082331	0.0002	0.000599042	0.0004	0	0	0.0001	0	0.0003	0.0011	0.0019	0.0004075	63	154602	rs200351429	0.0003	0.0003	0.0002	0.0003	0.0019	0.0002	0.0002	0.0017	0.0016	2.987e-05	0	0	5.038e-05	1.872e-05	0.0010	0.0002	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	2.409e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0.0017	0.0	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.052679	1	0.81001	D	.	.	.	2.19	0.18724	T	-3.88	0.72710	D	0.323	0.36359	-0.8738	0.50241	T	0.138	0.45489	T	9	0.026590377	0.00822	T	0.024164	0.47155	T	0.320	0.64215	.	.	0.599696831333	0.59650	0.6402988997521847	0.63964	0.1828838047	0.20567	0.47691231966	0.35632	T	0.189154	0.54329	T	-0.0783587	0.39981	T	0.107403	0.77401	D	0.279745781308475	0.24160	T	0.949805	0.85427	D	0.81618726	0.84964	0.7522029	0.85353	0.81618726	0.84965	0.7522029	0.85354	-12.573	0.87529	D	.	.	0.361	0.57274	A	.;.;.	.;.;.	5.622294	0.92614	32	0.99961188127276412	0.99997	0.93761	0.59115	D	AEFBI	0.758771	0.69731	D	0.763826060424656	0.83800	8.113888	0.720456503585334	0.83934	8.153305	0.999999999859316	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.51	5.51	0.81769	4.458000	0.59832	4.026000	0.41295	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.910	0.86007	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1372.43	33	chr1	159886658	.	C	T	1372.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.207;DP=414;ExcessHet=0;FS=1.601;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-1.187;SOR=0.877	GT:AD:DP:GQ:PL	0/1:48,56:104:99:1384,0,1100	9	0	1	0
chr1	160030794	160030794	A	C	exonic	PIGM	.	nonsynonymous SNV	PIGM:NM_145167:exon1:c.T946G:p.C316G	Glycosylphosphatidylinositol deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.129098063147	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294304086	2.052e-06	2.052e-06	2.722e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.021	0.58089	D	0.993	0.65571	D	0.96	0.70309	D	0.000006	0.62929	D	0.111289	1	0.81001	D	3.275	0.90144	M	0.85	0.47130	T	-9.57	0.98503	D	0.69	0.69562	-0.6455	0.62909	T	0.222	0.58523	T	9	0.854362	0.84626	D	0.129098	0.81111	D	0.315	0.63694	0.631	0.76699	0.72636849053	0.72394	0.5631388709949597	0.56240	1.13854889537	0.78850	0.513442397118	0.40704	T	0.160194	0.50394	T	0.152325	0.69484	D	-0.0189724	0.69096	D	0.999645709991455	0.98300	D	0.872913	0.58047	D	0.9617691	0.97458	0.91357887	0.95943	0.9617691	0.97458	0.91357887	0.95943	-7.754	0.59382	D	0.3969254396452313	0.48933	0.294	0.52483	B	.	.	4.794476	0.77846	26.8	0.98289391390874425	0.39935	0.86077	0.45292	D	AEFDGBCI	0.799680	0.72587	D	0.59223024528763	0.72687	5.845406	0.556832234500006	0.71874	5.721801	0.999999999891159	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	5.35	5.35	0.76297	4.771000	0.62011	10.956000	0.84431	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	1.0:0.0:0.0:0.0	13.278	0.59631	803	0.44167	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	3919.14	148	chr1	160030794	.	A	C	3919.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.61;DP=587;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.582;SOR=0.719	GT:AD:DP:GQ:PL	0/1:75,62:137:99:1749,0,1898	8	0	2	0
chr1	160042232	160042232	G	T	exonic	KCNJ10	.	nonsynonymous SNV	KCNJ10:NM_002241:exon2:c.C301A:p.P101T	Enlarged vestibular aqueduct, digenic, Autosomal recessive;SESAME syndrome, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	201057	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_4|EAST_syndrome|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MONDO:MONDO:0013005,MedGen:C2748572,OMIM:612780,Orphanet:199343|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.407	0.0247021238291	7.7e-05	0.000399361	0.0003	0	0	0	0	0.0002	0	0.0015	0.0002781	43	154602	rs375361490	0.0002	0.0002	0.0001	0.0002	0.0015	0.0002	0.0001	0.0013	0.0012	0	0	0	0	9.361e-05	0.0007	8.635e-05	0.0002	0.0015	0.0001	0.0001	0.0001	0.0001	0.0008	8.167e-05	6.723e-05	0.0003	0.0002	0	0	6.539e-05	0	0	0	0	0.0002	0	0.0008	0.07	0.35349	T	0.107	0.37730	T	0.011	0.15914	B	0.032	0.22131	B	0.193940	0.16773	N	0.627142	0.999998	0.58761	D	2.285	0.65182	M	-3.24	0.93474	D	-2.36	0.52128	N	0.27	0.30574	-0.0670	0.80845	T	0.604	0.85919	D	10	0.042671204	0.03039	T	0.024702	0.47687	T	0.407	0.71946	.	.	0.796593503951	0.79470	0.958943726402816	0.95880	0.634449359159	0.57297	0.666297495365	0.62310	T	0.835664	0.96119	D	-0.134568	0.30759	T	0.00384705	0.70584	D	0.11655626100225	0.14089	T	0.846915	0.56980	T	0.10201665	0.24101	0.13530459	0.32400	0.103863634	0.24550	0.13515536	0.32368	-6.117	0.47248	T	.	.	0.136	0.31151	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.450134	0.69175	25.3	0.97530802836888986	0.34459	0.98761	0.86513	D	AEFBI	0.649901	0.62420	D	0.0701682341033742	0.45074	2.770196	0.22081889332043	0.51004	3.286786	0.999998441179411	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.26	5.26	0.73479	7.782000	0.84306	7.508000	0.59580	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.633000	0.32236	0.0:0.1739:0.8261:0.0	11.994	0.52479	797	0.45241	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	2608.43	35	chr1	160042232	.	G	T	2608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.108;DP=504;ExcessHet=0;FS=8.237;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.245;SOR=0.702	GT:AD:DP:GQ:PL	0/1:92,101:193:99:2620,0,2482	9	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	.	.	.	.	.	.	.	.	0.5	2552.8	148	chr1	161048864	.	C	G	2552.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-5.803;DP=2098;ExcessHet=15.1594;FS=227.99;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.96;SOR=12.441	GT:AD:DP:GQ:PL	0/1:149,49:198:99:135,0,3170	0	0	9	1
chr1	168045049	168045049	G	C	exonic	DCAF6	.	nonsynonymous SNV	DCAF6:NM_001349780:exon13:c.G1408C:p.E470Q,DCAF6:NM_001017977:exon14:c.G1849C:p.E617Q,DCAF6:NM_001349777:exon14:c.G1468C:p.E490Q,DCAF6:NM_001349778:exon14:c.G1408C:p.E470Q,DCAF6:NM_001349779:exon14:c.G1408C:p.E470Q,DCAF6:NM_001198957:exon15:c.G1987C:p.E663Q,DCAF6:NM_001349774:exon15:c.G1468C:p.E490Q,DCAF6:NM_001349775:exon15:c.G1468C:p.E490Q,DCAF6:NM_001349776:exon15:c.G1468C:p.E490Q,DCAF6:NM_018442:exon15:c.G1909C:p.E637Q,DCAF6:NM_001198956:exon16:c.G2080C:p.E694Q,DCAF6:NM_001349773:exon16:c.G2080C:p.E694Q	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00323947396023	7.7e-05	.	0.0003	0	0	0	0	0.0001	0.0011	0.0018	0.0002781	43	154602	rs147907503	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	2.987e-05	4.475e-05	0	0	3.744e-05	0.0007	0.0001	0.0003	0.0021	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0.0003	0	0	0	0	0.0002	0	0.0019	0.06	0.39097	T	0.553	0.09931	T	0.321	0.53183	B	0.334	0.44752	B	0.053270	0.22822	N	0.440276	1	0.08975	N	1.905	0.50856	L	1.58	0.29085	T	-0.75	0.22944	N	0.113	0.10769	-1.0741	0.08535	T	0.023	0.09741	T	9	0.010872841	0.00240	T	0.003239	0.07147	T	0.050	0.13987	.	.	0.282416095408	0.27849	0.1277394271299239	0.12699	0.402464485075	0.41201	0.270843923092	0.06251	T	0.029898	0.21320	T	-0.566031	0.00234	T	-0.593105	0.13398	T	0.0276251095796761	0.01633	T	0.768023	0.39669	T	0.0970485	0.22870	0.06738257	0.13933	0.113138095	0.26722	0.07012239	0.14860	-3.936	0.25995	T	0.1954546748012736	0.25786	0.090	0.12891	B	.;.;.;.	.;.;.;.	2.029792	0.25795	16.89	0.97351872574069476	0.33529	0.70758	0.34724	D	AEFGBI	0.237327	0.35962	N	-0.396958512177019	0.25577	1.389465	-0.354555808344517	0.26369	1.456023	0.999990418588841	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	3.38	0.37806	2.173000	0.42099	3.797000	0.39853	0.618000	0.50648	0.729000	0.28913	0.766000	0.26662	0.989000	0.64315	0.0:0.2862:0.7138:0.0	14.113	0.64666	555	0.71762	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	5899.43	38	chr1	168045049	.	G	C	5899.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.934;DP=657;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.73;ReadPosRankSum=0.789;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,154:315:99:0|1:168045048_T_C:5911,0,6208:168045048	9	0	1	0
chr1	169376831	169376831	G	A	exonic	BLZF1	.	nonsynonymous SNV	BLZF1:NM_001320972:exon3:c.G320A:p.G107E,BLZF1:NM_001320973:exon3:c.G320A:p.G107E,BLZF1:NM_003666:exon3:c.G320A:p.G107E	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00661334191684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	2.724e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.20306	T	0.25	0.27767	T	0.36	0.33860	B	0.181	0.35894	B	0.000196	0.48115	N	0.218694	0.980815	0.41238	D	2.125	0.59049	M	0.93	0.44065	T	-1.87	0.43717	N	0.172	0.20660	-1.0467	0.15332	T	0.023	0.09741	T	9	0.08364481	0.13936	T	0.006613	0.17444	T	0.035	0.08770	0.171	0.07655	0.369682402691	0.36581	0.28186149848189496	0.28099	0.15821672533	0.17867	0.373172223568	0.21287	T	0.005141	0.22223	T	-0.134547	0.30762	T	-0.431044	0.29817	T	0.400319010019302	0.28954	T	0.713029	0.32487	T	0.03596796	0.04335	0.07333592	0.15924	0.03596796	0.04334	0.07333592	0.15924	-2.55	0.06132	T	.	.	0.141	0.30817	B	.;.;.;.;.	.;.;.;.;.	2.512435	0.32452	19.05	0.94308663687946048	0.24624	0.96344	0.68680	D	AEFBI	0.436331	0.49659	N	-0.307903103380761	0.28847	1.594583	-0.112108047468295	0.34901	2.012898	0.905749274023267	0.26212	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.4	4.48	0.53973	3.779000	0.55085	6.237000	0.55265	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1604:0.1502:0.6894:0.0	6.480	0.21254	492	0.76569	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2175.43	34	chr1	169376831	.	G	A	2175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.418;DP=482;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.07;SOR=0.643	GT:AD:DP:GQ:PL	0/1:62,86:148:99:2187,0,1648	9	0	1	0
chr1	169523286	169523286	A	G	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon21:c.T5959C:p.S1987P	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1291890	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.391	0.0988786243456	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174590593	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.273	0.22154	T	0.019	0.17989	B	0.034	0.22546	B	0.000253	0.46924	N	0.227351	0.703128	0.30084	N	1.265	0.31966	L	-5.26	0.98928	D	-3.21	0.64826	D	0.26	0.32812	0.248	0.86706	D	0.778	0.92474	D	9	0.21753481	0.38369	T	0.098879	0.77015	D	0.391	0.70684	0.462	0.53079	0.787638403273	0.78566	0.8790961563307662	0.87876	0.129275401982	0.14574	0.384943783283	0.22956	T	0.515786	0.82971	D	0.0883116	0.62999	D	-0.110923	0.62537	T	0.777237236499786	0.44878	D	0.563244	0.19836	T	0.22129752	0.44703	0.41166508	0.65391	0.22129752	0.44703	0.41166508	0.65391	-5.915	0.45562	T	.	.	0.122	0.25396	B	.;.	.;.	2.661970	0.34679	19.69	0.99197397231524476	0.55171	0.73646	0.36023	D	AEFDBI	0.602258	0.59419	D	-0.327675844970627	0.28101	1.547179	-0.182199626769884	0.32191	1.828973	0.00686038363693563	0.11325	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	2.01	0.25568	1.100000	0.30637	2.354000	0.32331	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.992000	0.67800	0.6607:0.0:0.3393:0.0	9.527	0.38336	804	0.43891	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 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	.	.	.	.	.	.	.	.	0.05	1707.43	35	chr1	169523286	.	A	G	1707.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.12;DP=434;ExcessHet=0;FS=4.5;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=2.63;SOR=1.15	GT:AD:DP:GQ:PL	0/1:62,59:121:99:1719,0,1522	9	0	1	0
chr1	173207098	173207098	C	T	exonic	TNFSF4	.	nonsynonymous SNV	TNFSF4:NM_003326:exon1:c.G79A:p.V27M	.	426	1070	24	2	0	28	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0002	0.00199681	0.0024	9.612e-05	0.0006	0	0	0.0004	0.0033	0.0153	0.0020181	312	154602	rs199835957	0.0012	0.0012	0.0007	0.0016	0.0149	0.0011	0.0011	0.0142	0.0140	0	0.0009	0.0012	5.039e-05	0	0.0030	0.0002	0.0015	0.0149	0.0007	0.0007	0.0004	0.0010	0.0139	0.0006	0.0006	0.0112	0.0103	4.813e-05	0	0.0011	0.0006	0.0002	0	0	0.0002	0.0009	0.0139	0.004	0.65419	D	0.008	0.67890	D	0.999	0.77913	D	0.927	0.66185	D	0.056225	0.22577	N	0.379769	0.762336	0.34053	D	1.955	0.52871	M	.	.	.	-2.73	0.58085	D	0.508	0.53972	-0.5031	0.68538	T	0.261	0.63230	T	9	0.009205133	0.00208	T	.	.	.	0.192	0.47115	.	.	0.347659731818	0.34379	0.6909411628972086	0.69034	0.837915334682	0.67891	0.408709019423	0.26278	T	0.819008	0.95554	D	-0.315653	0.07260	T	-0.213866	0.53325	T	0.0776720288139792	0.09686	T	0.761924	0.38711	T	0.15038362	0.34238	0.21194471	0.45643	0.15038362	0.34238	0.21194471	0.45642	-5.079	0.37685	T	.	.	0.333	0.55452	B	.	.	3.436727	0.47789	22.5	0.9987778635413902	0.95410	0.76223	0.37367	D	AEFDGBCIJ	0.238707	0.36079	N	0.545485646877872	0.69808	5.409865	0.48935201874849	0.67284	5.063272	0.999999999772002	0.74766	0.516011	0.20929	0	0.52208	0.09955	0	0.577349	0.28860	0	0.56214	0.19341	0	.	.	5.67	4.75	0.59954	1.821000	0.38680	2.123000	0.30732	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.341000	0.25455	0.0:0.9119:0.0:0.0881	10.932	0.46434	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.007576	0.1	4394.14	33	chr1	173207098	.	C	T	4394.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.827;DP=675;ExcessHet=0.2348;FS=0.775;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.762;SOR=0.646	GT:AD:DP:GQ:PL	0/1:102,100:202:99:2470,0,2674	8	0	2	0
chr1	177030881	177030881	A	C	exonic	ASTN1	.	nonsynonymous SNV	ASTN1:NM_001286164:exon4:c.T937G:p.S313A,ASTN1:NM_001364856:exon4:c.T937G:p.S313A,ASTN1:NM_004319:exon4:c.T937G:p.S313A,ASTN1:NM_207108:exon4:c.T937G:p.S313A	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00894008870987	7.7e-05	0.000199681	5.766e-05	9.61e-05	0	0	0	8.991e-05	0	0	7.76e-05	12	154602	rs201743279	0.0001	0.0001	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0	0	3.826e-05	0	0	0.0003	0.0002	6.624e-05	2.319e-05	5.911e-05	5.906e-05	7.712e-05	4.029e-05	8.821e-05	3.076e-05	2.209e-05	3.762e-05	2.575e-05	7.218e-05	0	0	0	0	0	0	8.821e-05	0	0	1.0	0.00964	T	0.622	0.07394	T	0.002	0.09854	B	0.004	0.10090	B	0.000042	0.53742	D	0.161258	0.953875	0.37851	D	1.61	0.41143	L	2.55	0.13795	T	-0.77	0.22508	N	0.224	0.26475	-1.0204	0.23584	T	0.020	0.08500	T	10	0.068719864	0.09758	T	0.00894	0.23559	T	0.038	0.09825	.	.	0.278932316844	0.27492	0.2687508402052402	0.26788	0.193963078417	0.21732	0.617648720741	0.55397	T	0.034768	0.23454	T	-0.426083	0.01566	T	-0.59477	0.13255	T	0.0187909919768572	0.00591	T	0.618038	0.23687	T	.	.	.	.	.	.	.	.	-4.922	0.35982	T	.	.	0.063	0.03887	B	.;.;.	.;.;.	1.237781	0.16335	12.47	0.91563582661792098	0.20842	0.81927	0.41237	D	AEFI	0.295078	0.40528	N	-0.480461917472572	0.22722	1.21525	-0.296330804119179	0.28219	1.571668	4.6318037034505E-4	0.07066	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.76	1.79	0.23992	1.523000	0.35538	1.938000	0.29812	-0.055000	0.16736	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.639:0.3609:0.0:0.0	14.297	0.65875	843	0.36859	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1397.43	35	chr1	177030881	.	A	C	1397.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.923;DP=465;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.937;SOR=0.738	GT:AD:DP:GQ:PL	0/1:79,66:145:99:1409,0,1932	9	0	1	0
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	33.12	76	chr1	180014239	.	G	C	33.12	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.503;DP=692;ExcessHet=0.2348;FS=217.548;InbreedingCoeff=-0.192;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.2;ReadPosRankSum=0.492;SOR=9.558	GT:AD:DP:GQ:PL	0/1:67,16:83:16:16,0,2111	6	0	2	2
chr1	180928498	180928498	G	A	exonic	KIAA1614	.	nonsynonymous SNV	KIAA1614:NM_020950:exon4:c.G1130A:p.R377H	.	8	1483	31	0	0	31	0.0103437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00478836373479	0.0047	0.00279553	0.0056	0.0010	0.0028	0.0002	0.0023	0.0072	0.0069	0.0078	0.0050776	785	154602	rs140222211	0.0055	0.0055	0.0052	0.0058	0.0128	0.0054	0.0053	0.0105	0.0096	0.0013	0.0029	0.0205	0.0001	0.0027	0.0128	0.0054	0.0060	0.0089	0.0041	0.0041	0.0041	0.0042	0.0077	0.0039	0.0037	0.0057	0.0050	0.0007	0.0219	0.0037	0.0202	0.0006	0.0026	0.0136	0.0053	0.0071	0.0077	0.093	0.31532	T	0.034	0.52727	D	0.007	0.14184	B	0.005	0.11217	B	0.180243	0.17122	N	0.498887	0.995655	0.42792	D	0.695	0.17993	N	1.96	0.22270	T	-2.42	0.53096	N	0.193	0.21188	-1.0493	0.14593	T	0.036	0.15465	T	9	0.005491942	0.00121	T	0.004788	0.11973	T	0.058	0.16647	.	.	0.0716867268079	0.06686	0.12543642818145254	0.12469	0.263862433895	0.28942	0.263838291168	0.05356	T	0.033932	0.23116	T	-0.553531	0.00278	T	-0.561205	0.16264	T	0.0225973046598565	0.00976	T	0.622938	0.26859	T	0.055256985	0.10713	0.07319048	0.15878	0.055256985	0.10712	0.07319048	0.15878	-9.619	0.71597	D	.	.	0.073	0.55876	B	.;.	.;.	2.295517	0.29365	18.10	0.99605620748217916	0.74456	0.68140	0.33690	D	AEFDBI	0.080954	0.16375	N	-0.210494210837487	0.32704	1.847188	-0.11038660286288	0.34971	2.018	0.999948513371837	0.47345	0.615465	0.37627	0	0.588066	0.40923	0	0.535252	0.11790	0	0.655142	0.61905	0	.	.	5.56	1.09	0.19517	2.464000	0.44724	0.088000	0.14478	-0.108000	0.15293	0.995000	0.38783	0.000000	0.08366	0.993000	0.69303	0.2886:0.0:0.7114:0.0	9.816	0.40021	865	0.32612	Domain of unknown function DUF4685;Domain of unknown function DUF4685	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011628	0.000000	0.014946	0.008824	0.000000	0.017241	0.015432	0.007576	0.05	1081.43	38	chr1	180928498	.	G	A	1081.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.486;DP=426;ExcessHet=0;FS=6.531;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=0.603;SOR=0.802	GT:AD:DP:GQ:PL	0/1:27,42:69:99:1093,0,671	9	0	1	0
chr1	182586523	182586523	G	C	exonic	RNASEL	.	nonsynonymous SNV	RNASEL:NM_021133:exon2:c.C284G:p.P95R	Prostate cancer 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	0.342998578618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.84e-07	1.364e-06	0	9.016e-07	0	0	.	.	0	0	0	0	0	0	9.016e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.018	0.64786	D	1.0	0.90584	D	0.993	0.81110	D	0.003497	0.34874	N	0.203043	0.667647	0.33112	D	4.005	0.96783	H	-1.32	0.79761	T	-4.4	0.77308	D	0.733	0.73465	0.998	0.97148	D	0.790	0.92882	D	10	0.95139503	0.94478	D	0.342999	0.92065	D	0.618	0.85144	0.67	0.80803	0.972984056117	0.97269	0.76312380272905	0.76260	0.359665792299	0.37662	0.447021961212	0.31538	T	0.368424	0.73332	T	0.363542	0.87523	D	0.284426	0.87362	D	0.993173778057098	0.83871	D	0.841716	0.52386	T	0.77518237	0.82360	0.4758885	0.69630	0.77518237	0.82361	0.4758885	0.69631	-11.566	0.83171	D	0.8040606930528791	0.88026	0.900	0.82734	P	.;.	.;.	3.839339	0.55545	23.6	0.99656563045104651	0.77631	0.80753	0.40311	D	AEFDGBHCI	0.269576	0.38582	N	0.682730410502987	0.78502	6.884396	0.493170244954708	0.67537	5.09724	0.999999999999999	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.71	4.71	0.59010	3.934000	0.56265	8.536000	0.77474	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.084:0.0:0.916:0.0	12.556	0.55602	814	0.42100	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1997.43	37	chr1	182586523	.	G	C	1997.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.023;DP=491;ExcessHet=0;FS=3.838;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.956;SOR=0.456	GT:AD:DP:GQ:PL	0/1:67,82:149:99:2009,0,1808	9	0	1	0
chr1	182806516	182806516	G	A	exonic	NPL	.	nonsynonymous SNV	NPL:NM_001200050:exon3:c.G158A:p.R53H	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0132737795624	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1254260382	5.781e-06	5.472e-06	4.279e-06	7.322e-06	0.0002	2.49e-06	1.8e-06	7.4e-07	2.1e-07	0	2.801e-05	0	2.798e-05	0	0.0002	2.781e-06	1.726e-05	1.262e-05	1.314e-05	1.313e-05	0	2.69e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.019	0.50132	D	0.338	0.18125	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	-1.77	0.83660	D	-0.97	0.25770	N	0.09	0.06854	-0.7074	0.60080	T	0.345	0.71052	T	9	0.122164816	0.23171	T	0.013274	0.32542	T	0.172	0.43662	0.668	0.80602	0.247872288689	0.24386	.	.	.	.	.	.	.	.	.	.	-0.270218	0.11732	T	-0.503382	0.21998	T	0.027473084891702	0.01612	T	0.39816	0.10064	T	.	.	.	.	.	.	.	.	-4.117	0.25540	T	.	.	0.109	0.20896	B	.	.	0.408088	0.07791	4.480	0.57817247662865101	0.05853	0.06800	0.12824	N	AEFDGBHCI	0.048270	0.08220	N	-1.10916631223774	0.06479	0.2983818	-1.17311538342287	0.06361	0.3059989	0.878503990320674	0.25567	0.495158	0.18159	0	0.61073	0.52368	0	0.535252	0.11790	0	0.564101	0.26826	0	.	.	3.87	-0.136	0.12815	0.144000	0.15956	1.200000	0.24830	-0.735000	0.03699	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.4592:0.0:0.5408:0.0	6.209	0.19831	406	0.82375	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1005.43	33	chr1	182806516	.	G	A	1005.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.554;DP=421;ExcessHet=0;FS=1.631;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.158;SOR=0.869	GT:AD:DP:GQ:PL	0/1:58,43:101:99:1017,0,1402	9	0	1	0
chr1	183945547	183945547	T	A	exonic	COLGALT2	.	nonsynonymous SNV	COLGALT2:NM_001303420:exon9:c.A1154T:p.Q385L,COLGALT2:NM_001303421:exon9:c.A794T:p.Q265L,COLGALT2:NM_015101:exon9:c.A1154T:p.Q385L	.	425	1081	15	1	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	.	0.0082	0.00299521	0.0071	0.0020	0.0011	0	0.0064	0.0100	0.0066	0.0070	0.0071797	1110	154602	rs61743924	0.0087	0.0087	0.0088	0.0087	0.0097	0.0086	0.0085	0.0096	0.0095	0.0019	0.0027	0.0158	0	0.0053	0.0092	0.0097	0.0078	0.0063	0.0060	0.0060	0.0061	0.0058	0.0096	0.0056	0.0055	0.0090	0.0088	0.0016	0.0011	0.0037	0.0141	0	0.0041	0.0034	0.0096	0.0028	0.0056	0.298	0.14595	T	0.32	0.21745	T	0.986	0.61523	D	0.911	0.64720	D	0.000001	0.62929	D	0.058048	1	0.81001	D	2.35	0.67516	M	-1.13	0.77719	T	-2.95	0.61580	D	0.722	0.72388	0.054	0.83321	D	0.523	0.82206	D	10	0.013658196	0.00289	T	.	.	.	0.568	0.82403	.	.	0.87180093641	0.87055	0.7611849925579952	0.76066	0.894154381821	0.70357	0.65886080265	0.61246	T	0.169104	0.51635	T	-0.239552	0.15406	T	-0.108915	0.62698	T	0.0131000466423841	0.00230	T	0.762324	0.38756	T	0.42127702	0.62177	0.31137094	0.57144	0.42127702	0.62177	0.31137094	0.57143	-8.856	0.66765	D	.	.	0.235	0.47816	B	.;.;.	.;.;.	4.768201	0.77163	26.6	0.97849541934932605	0.36385	0.96860	0.71332	D	ALL	0.952676	0.96834	D	0.535619244291497	0.69212	5.324943	0.562359853788514	0.72263	5.782045	1.0	0.98316	0.685219	0.55550	0	0.547309	0.14657	0	0.674405	0.61402	0	0.663205	0.64265	0	.	.	5.39	5.39	0.77615	7.702000	0.83553	7.869000	0.71860	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	15.398	0.74533	850	0.35610	.;.;.	.	.	.	.	.	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	0.005435	0.032164	0.000000	0.017241	0.003049	0.015152	0.05	1069.43	35	chr1	183945547	.	T	A	1069.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.509;DP=409;ExcessHet=0;FS=0.812;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.027;SOR=0.878	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1081,0,1325	9	0	1	0
chr1	200409645	200409645	C	A	exonic	ZNF281	.	nonsynonymous SNV	ZNF281:NM_001281293:exon2:c.G61T:p.G21C,ZNF281:NM_001281294:exon2:c.G61T:p.G21C,ZNF281:NM_012482:exon2:c.G61T:p.G21C	.	335	1180	7	0	0	7	0.00295733	.	.	.	3360700	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.521	0.832106358062	.	0.000399361	0.0006	0.0011	0.0025	0	0	0.0002	0	0.0008	0.0001358	21	154602	rs548362759	0.0002	0.0002	0.0001	0.0002	0.0020	0.0001	0.0001	0.0010	0.0008	0.0002	0.0004	0	0	0	0.0020	9.229e-05	0.0005	0.0008	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	2.476e-05	0	0.0004	0	0	0	0.0075	0.0003	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.984568	0.40162	D	0.345	0.11182	N	-5.06	0.98629	D	0.91	0.01664	N	0.283	0.43514	1.083	0.98984	D	0.932	0.97744	D	9	0.040011853	0.02535	T	0.832106	0.98699	D	0.521	0.79643	0.289	0.24921	0.448695639987	0.44491	0.8140761344860498	0.81363	0.543735637715	0.51437	0.893035888672	0.95633	D	0.179512	0.53053	T	0.311852	0.83884	D	0.210178	0.83675	D	0.132731631522653	0.15632	T	0.427957	0.11563	T	0.45220262	0.64180	0.5788237	0.75592	0.45220262	0.64181	0.5788237	0.75593	-7.742	0.59458	D	.	.	0.174	0.40376	B	.;.;.	.;.;.	4.021272	0.59398	24.1	0.96051165503031855	0.28564	0.83696	0.42797	D	AEFDBHCIJ	0.456999	0.50863	N	0.405326960967087	0.61715	4.376346	0.392171851208297	0.61080	4.303419	0.999999999965674	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.492483	0.08430	1	.	.	3.87	3.87	0.43823	1.582000	0.36177	3.794000	0.39841	0.499000	0.22661	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	14.092	0.64527	735	0.53711	.;.;.	.	.	.	.	.	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	0.002073	0.011111	0.001385	0.002994	0.000000	0.000000	0.000000	0.003876	0.05	426.43	34	chr1	200409645	.	C	A	426.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.895;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.27;ReadPosRankSum=-1.375;SOR=0.678	GT:AD:DP:GQ:PL	0/1:47,21:68:99:438,0,1164	9	0	1	0
chr1	201983007	201983007	C	T	exonic	RNPEP	.	nonsynonymous SNV	RNPEP:NM_020216:exon1:c.C341T:p.P114L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.146955090635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.02	0.59159	D	0.998	0.73220	D	0.98	0.74843	D	0.001146	0.40056	N	0.171581	1	0.81001	D	3.44	0.92123	M	4.19	0.02716	T	-4.56	0.78636	D	0.398	0.50056	-1.1701	0.00537	T	0.032	0.13811	T	10	0.37591493	0.53829	T	0.146955	0.82902	D	0.147	0.38986	0.435	0.48664	0.500303608228	0.49666	0.42941251417418147	0.42858	0.655062403799	0.58563	0.735599398613	0.72325	T	0.238264	0.60612	T	-0.0324865	0.47055	T	-0.284441	0.46348	T	0.985755980014801	0.76655	D	0.835117	0.50885	T	0.37368038	0.58855	0.3769248	0.62804	0.37368038	0.58856	0.3769248	0.62804	-8.396	0.63739	D	.	.	0.170	0.46436	B	.;.	.;.	4.459522	0.69394	25.4	0.99885146970315919	0.96049	0.86921	0.46312	D	ALL	0.604386	0.59550	D	0.550003052940945	0.70081	5.449594	0.470995707502999	0.66075	4.905226	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	4.06	4.06	0.46572	2.227000	0.42615	3.573000	0.39130	0.549000	0.26987	0.919000	0.31930	1.000000	0.68203	0.818000	0.38543	0.0:1.0:0.0:0.0	13.234	0.59389	740	0.53092	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	258.43	28	chr1	201983007	.	C	T	258.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.54;DP=317;ExcessHet=0;FS=3.114;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.46;ReadPosRankSum=-1.091;SOR=1.235	GT:AD:DP:GQ:PL	0/1:29,11:40:99:270,0,707	9	0	1	0
chr1	203712128	203712128	G	A	exonic	ATP2B4	.	nonsynonymous SNV	ATP2B4:NM_001001396:exon13:c.G2200A:p.E734K,ATP2B4:NM_001365783:exon13:c.G2200A:p.E734K,ATP2B4:NM_001365784:exon13:c.G2200A:p.E734K,ATP2B4:NM_001684:exon13:c.G2200A:p.E734K	.	392	1122	7	1	0	9	0.00399467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.719	0.15961621119	.	.	1.662e-05	0	0	0	0	3.018e-05	0	0	1.29e-05	2	154602	rs767252454	1.505e-05	1.505e-05	1.498e-05	1.513e-05	0.0005	9.85e-06	8.42e-06	0.0001	7.578e-05	0	0	0	2.519e-05	0	0.0005	1.529e-05	1.656e-05	0	3.942e-05	3.94e-05	2.569e-05	5.379e-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	0.123	0.27544	T	0.172	0.30241	T	0.522	0.37544	P	0.23	0.38212	B	0.000068	0.52346	D	0.000000	1	0.81001	D	1.1	0.28011	L	-4.37	0.97343	D	-2.55	0.55181	D	0.677	0.68429	1.000	0.97188	D	0.889	0.96308	D	10	0.6508374	0.69593	D	0.159616	0.83978	D	0.719	0.90056	0.506	0.60078	0.728539117464	0.72613	0.6630601337283123	0.66243	1.09264733632	0.77486	0.723170399666	0.70508	T	.	.	.	0.299337	0.82915	D	0.255847	0.85896	D	0.846108078956604	0.49833	D	0.959604	0.84807	D	.	.	.	.	.	.	.	.	-8.212	0.62633	D	.	.	0.208	0.43435	B	.;.;.	.;.;.	4.960152	0.82006	27.7	0.99923866938744876	0.98917	0.99593	0.97790	D	AEFDBI	0.880162	0.80662	D	0.533246543680304	0.69067	5.304861	0.630452243532627	0.77161	6.626581	0.999999999999856	0.74766	0.719381	0.83141	0	0.593476	0.48661	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.51	5.51	0.81769	9.875000	0.98483	11.786000	0.96242	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.031	0.92939	598	0.68232	.;.;.	.	.	.	.	.	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	756.14	61	chr1	203712128	.	G	A	756.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.1;DP=386;ExcessHet=0.2348;FS=4.004;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=7.13;ReadPosRankSum=0.939;SOR=0.359	GT:AD:DP:GQ:PL	0/1:32,13:45:99:293,0,807	8	0	2	0
chr1	203772073	203772073	C	T	exonic	LAX1	.	nonsynonymous SNV	LAX1:NM_001136190:exon4:c.C268T:p.H90Y,LAX1:NM_001282878:exon4:c.C88T:p.H30Y,LAX1:NM_017773:exon4:c.C316T:p.H106Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00275016132125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.841e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.40068	T	0.242	0.24334	T	0.965	0.56013	D	0.466	0.46637	P	0.782499	0.06663	N	1.109350	0.988882	0.24360	N	1.495	0.37439	L	.	.	.	-3.31	0.65972	D	0.325	0.36569	-1.0176	0.24495	T	0.108	0.39221	T	9	0.20462683	0.36661	T	0.00275	0.05694	T	0.046	0.12618	0.268	0.21576	0.605049500696	0.60188	0.024654007578971442	0.02416	0.196763213255	0.22047	0.333337843418	0.15438	T	0.610397	0.87644	D	-0.151841	0.28022	T	-0.455885	0.27049	T	0.606053292751312	0.36642	D	0.673433	0.28201	T	0.14101975	0.32512	0.20251477	0.44284	0.14101975	0.32512	0.20251477	0.44283	-3.943	0.22948	T	.	.	0.120	0.28664	B	.;.	.;.	2.070044	0.26324	17.08	0.99165217897944913	0.54212	0.25479	0.22711	N	AEFDGBIJ	0.074237	0.14873	N	0.0128197722892784	0.42438	2.556956	-0.0485570388563663	0.37552	2.20032	0.999938819406304	0.46732	0.615465	0.37627	0	0.633656	0.55848	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.16	3.25	0.36363	0.755000	0.26070	2.657000	0.33854	0.599000	0.40250	0.514000	0.27064	0.968000	0.29604	0.925000	0.46118	0.0:0.8181:0.0:0.1819	8.684	0.33389	472	0.77968	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1734.14	81	chr1	203772073	.	C	T	1734.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.01;DP=440;ExcessHet=0.2348;FS=1.244;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=1.64;SOR=0.56	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1000,0,860	8	0	2	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	.	.	.	.	.	.	.	.	0.35	1775.95	150	chr1	204444146	.	C	T	1775.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.45;DP=1261;ExcessHet=7.0302;FS=231.663;InbreedingCoeff=-0.5226;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=1.11;SOR=9.6	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,22:130:69:.:.:69,0,2312:.	3	0	7	0
chr1	205053205	205053205	G	T	exonic	CNTN2	.	nonsynonymous SNV	CNTN2:NM_001346083:exon2:c.G20T:p.R7M,CNTN2:NM_005076:exon2:c.G20T:p.R7M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0150600083715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.057	0.46406	T	0.07	0.23866	B	0.058	0.26451	B	0.348325	0.13855	N	0.594604	0.999996	0.08975	N	0	0.06538	N	-0.04	0.63240	T	1.26	0.00998	N	0.255	0.28849	-0.9931	0.31801	T	0.104	0.38316	T	10	0.084843755	0.14262	T	0.01506	0.35570	T	0.052	0.14661	0.454	0.51775	0.748752765597	0.74648	0.5783446269127932	0.57763	0.597040875348	0.54914	0.369110524654	0.20705	T	0.065777	0.32776	T	-0.099199	0.36555	T	-0.380269	0.35689	T	0.0767205281238982	0.09563	T	0.467953	0.13790	T	0.06574925	0.14082	0.05946331	0.11164	0.06574925	0.14081	0.05946331	0.11163	-4.707	0.33489	T	.	.	0.471	0.63988	A	.;.;.	.;.;.	2.373680	0.30458	18.44	0.93337183500469734	0.23065	0.59348	0.30890	D	AEFDBI	0.087439	0.17729	N	-0.567417554100017	0.19941	1.047545	-0.473153445304044	0.22897	1.245925	0.206824308560145	0.18191	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.79	2.49	0.29274	0.494000	0.22175	3.746000	0.39667	0.676000	0.76740	0.955000	0.33325	1.000000	0.68203	0.770000	0.36519	0.1533:0.2061:0.6406:0.0	4.679	0.12109	381	0.83684	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	339.43	34	chr1	205053205	.	G	T	339.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.023;DP=335;ExcessHet=0;FS=1.451;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.593;SOR=1.148	GT:AD:DP:GQ:PL	0/1:16,15:31:99:351,0,368	9	0	1	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F,BPNT1:NM_001286151:exon2:c.C14T:p.S5F,BPNT1:NM_001286150:exon3:c.C179T:p.S60F,BPNT1:NM_006085:exon3:c.C179T:p.S60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	57.23	58	chr1	220074013	.	G	A	57.23	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.835;DP=576;ExcessHet=0.2348;FS=264.61;InbreedingCoeff=-0.2122;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=0.965;SOR=8.379	GT:AD:DP:GQ:PL	0/1:80,30:125:35:35,0,1247	5	0	2	3
chr1	225085608	225085608	A	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon21:c.3392delA:p.M1133Cfs*16	.	455	1039	27	1	0	29	0.0137636	.	.	.	2816092	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0028	0.00319489	0.0060	0	0.0049	0	0.0018	0.0070	0.0083	0.0078	0.0003074	8	26028	rs555051718	0.0024	0.0023	0.0021	0.0027	0.0130	0.0023	0.0023	0.0106	0.0097	0.0003	0.0028	0.0133	0	0.0010	0.0130	0.0018	0.0035	0.0076	0.0023	0.0023	0.0023	0.0023	0.0079	0.0021	0.0020	0.0059	0.0052	0.0003	0	0.0048	0.0124	0	0.0013	0.0170	0.0022	0.0066	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1763.39	41	chr1	225085607	.	GA	G	1763.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.14;DP=541;ExcessHet=0;FS=1.302;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.176;SOR=0.566	GT:AD:DP:GQ:PL	0/1:81,70:151:99:1775,0,2101	9	0	1	0
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V,ENAH:NM_001008493:exon7:c.C1106T:p.A369V,ENAH:NM_018212:exon7:c.C1106T:p.A369V,ENAH:NM_001377481:exon8:c.C1163T:p.A388V,ENAH:NM_001377482:exon8:c.C1163T:p.A388V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	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	354.95	117	chr1	225514708	.	G	A	354.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.263;DP=743;ExcessHet=1.5895;FS=575.34;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=2.17;SOR=10.035	GT:AD:DP:GQ:PL	0/1:74,37:122:99:120,0,1111	2	0	4	4
chr1	231163820	231163820	C	G	exonic	TRIM67	.	nonsynonymous SNV	TRIM67:NM_001004342:exon1:c.C851G:p.P284R,TRIM67:NM_001300889:exon3:c.C665G:p.P222R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.448068933746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.666e-06	6.156e-06	4.34e-06	2.974e-06	2.827e-06	1.07e-06	7.8e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.827e-06	3.56e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.007	0.69154	D	0.017	0.17573	B	0.003	0.08700	B	0.194026	0.16770	U	0.415459	0.632497	0.37103	D	0.695	0.17993	N	-0.44	0.69777	T	-0.86	0.23372	N	0.4	0.53357	-0.8649	0.50908	T	0.131	0.44188	T	10	0.18112323	0.33329	T	0.448069	0.94290	D	0.089	0.25827	0.352	0.35084	0.215239754934	0.21150	0.4249061083984774	0.42407	0.779126380547	0.65190	0.835858166218	0.87462	D	0.018682	0.29158	T	-0.0529135	0.44003	T	-0.313783	0.43250	T	0.396483024167246	0.28809	T	0.686031	0.30897	T	0.15040798	0.34242	0.17603198	0.40109	0.15040798	0.34242	0.17603198	0.40108	-4.092	0.25172	T	.	.	0.114	0.26169	B	.;.;.	.;.;.	3.068438	0.41238	21.3	0.98875667035882897	0.47736	0.68639	0.33878	D	AEFDBIJ	0.177255	0.30449	N	-0.441498759719101	0.24030	1.294623	-0.274872992849919	0.28928	1.616784	0.999999817930416	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.5	4.5	0.54382	3.945000	0.56346	4.601000	0.43997	0.467000	0.21759	0.990000	0.36992	1.000000	0.68203	0.283000	0.24091	0.0:0.8247:0.1753:0.0	11.973	0.52364	798	0.45050	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	838.43	36	chr1	231163820	.	C	G	838.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.091;DP=384;ExcessHet=0;FS=2.417;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.212;SOR=0.386	GT:AD:DP:GQ:PL	0/1:20,40:60:99:850,0,428	9	0	1	0
chr1	241879152	241879152	C	T	exonic	EXO1	.	nonsynonymous SNV	EXO1:NM_003686:exon11:c.C1918T:p.P640S,EXO1:NM_006027:exon11:c.C1918T:p.P640S,EXO1:NM_001319224:exon12:c.C1915T:p.P639S,EXO1:NM_130398:exon13:c.C1918T:p.P640S	.	424	1059	37	2	0	41	0.0189903	.	.	.	3199359	EXO1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.008	.	0.0069	0.019369	0.0130	0.0072	0.0026	0.0035	0.0039	0.0061	0.0122	0.0607	0.0118692	1835	154602	rs61736331	0.0091	0.0091	0.0077	0.0106	0.0565	0.0090	0.0089	0.0552	0.0547	0.0072	0.0030	0.0006	0.0190	0.0036	0.0151	0.0058	0.0096	0.0565	0.0077	0.0077	0.0073	0.0080	0.0559	0.0073	0.0071	0.0504	0.0483	0.0073	0	0.0033	0.0009	0.0083	0.0028	0.0068	0.0066	0.0071	0.0559	0.676	0.04482	T	0.842	0.03589	T	0.003	0.13644	B	0.002	0.10090	B	0.758298	0.09644	N	0.899174	1	0.08975	N	1.175	0.29870	L	1.51	0.30937	T	-0.55	0.16799	N	0.024	0.00571	-0.9914	0.32244	T	0.023	0.09604	T	10	0.0018211603	0.00024	T	.	.	.	0.208	0.49714	.	.	.	.	0.156109575900888	0.15531	0.0490915211193	0.05371	0.233549177647	0.02241	T	0.097551	0.40049	T	-0.447715	0.01165	T	-0.373393	0.36493	T	0.00130520188550032	0.00013	T	0.60024	0.22396	T	0.016101342	0.00176	0.024544803	0.00477	0.021404697	0.00742	0.026807906	0.00792	-2.855	0.08701	T	.	.	0.071	0.11076	B	.;.;.	.;.;.	0.130489	0.05263	1.762	0.47857533652013584	0.03946	0.02927	0.07740	N	AEFBI	0.034876	0.04397	N	-1.24310704258637	0.04391	0.1980764	-1.17819292073773	0.06275	0.3015582	0.738177102866387	0.23167	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.72	1.31	0.20837	-0.510000	0.06411	-1.934000	0.04472	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.298000	0.24452	0.0:0.5173:0.1405:0.3422	5.583	0.16540	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	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1666.43	40	chr1	241879152	.	C	T	1666.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.895;DP=635;ExcessHet=0;FS=0.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.415;SOR=0.78	GT:AD:DP:GQ:PL	0/1:83,63:146:99:1678,0,2384	9	0	1	0
chr1	247256149	247256149	T	C	exonic	VN1R5	.	unknown	UNKNOWN	.	530	986	5	1	0	7	0.00353714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	8.476e-05	0	0	0	0	0.0001	0	6.772e-05	6.47e-05	10	154602	rs377603855	3.698e-05	3.762e-05	3.135e-05	4.268e-05	0.0017	2.897e-05	2.595e-05	0.0009	0.0007	0	0.0001	0	5.039e-05	0	0.0017	1.62e-05	9.954e-05	0.0002	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1327.43	33	chr1	247256149	.	T	C	1327.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.507;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.433;SOR=0.696	GT:AD:DP:GQ:PL	0/1:48,54:102:99:1339,0,1229	9	0	1	0
chr1	247738723	247738723	G	A	exonic	OR14K1	.	nonsynonymous SNV	OR14K1:NM_001004732:exon1:c.G109A:p.V37M	.	432	1083	7	0	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000843318760879	0.0002	.	4.972e-05	0	8.673e-05	0	0	4.497e-05	0.0011	6.057e-05	5.82e-05	9	154602	rs201271082	0.0001	0.0001	8.387e-05	0.0001	0.0029	8.31e-05	7.57e-05	0.0017	0.0013	0.0003	0.0005	0	0	0	0.0029	4.286e-05	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0003	0	0	0	0.0068	2.94e-05	0.0009	0	0.03	0.45393	D	0.019	0.59159	D	.	.	.	.	.	.	0.426261	0.04678	N	1.880630	1	0.08975	N	.	.	.	4.35	0.02319	T	0.63	0.02404	N	0.124	0.11626	-0.9934	0.31722	T	0.007	0.02282	T	7	0.04402861	0.03316	T	8.43E-4	0.00713	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.05187000595156568	0.05128	0.0662604446901	0.07392	.	.	.	0.006925	0.06354	T	-0.6403	0.00083	T	-0.823373	0.01385	T	0.0367441129090987	0.03111	T	0.138486	0.01104	T	0.026860323	0.01798	0.04696181	0.06662	0.026860323	0.01798	0.04696181	0.06661	-5.155	0.38481	T	.	.	0.105	0.19316	B	.	.	-1.437702	0.00334	0.006	0.59070062216873132	0.06138	0.00090	0.00598	N	AEFBI	0.021481	0.00961	N	-1.39077501083498	0.02724	0.1206785	-1.64703671820107	0.01391	0.06286533	0.144485070848767	0.17333	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.6	-7.21	0.01340	-6.679000	0.00071	.	.	-1.688000	0.00776	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2935:0.342:0.2724:0.092	3.020	0.05704	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2796.43	33	chr1	247738723	.	G	A	2796.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.669;DP=524;ExcessHet=0;FS=6.636;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.032;SOR=0.445	GT:AD:DP:GQ:PL	0/1:98,113:211:99:2808,0,2750	9	0	1	0
chr2	1638926	1638926	G	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon21:c.C4126T:p.R1376C	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	366027	Inborn_genetic_diseases|not_provided|Anterior_segment_dysgenesis_7	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0414906527345	0.0004	.	0.0002	0	0	0	0	0.0004	0	0	0.0002523	39	154602	rs202081704	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	0.0001	4.472e-05	0	2.519e-05	1.873e-05	0.0002	0.0005	0.0002	4.637e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	7.24e-05	0	0.0003	0	0	0	0	0.0005	0	0	0.08	0.33585	T	0.053	0.47336	T	0.001	0.07471	B	0.001	0.04355	B	0.187772	0.16929	N	0.635120	0.999331	0.21346	N	1.39	0.34934	L	0.12	0.61089	T	-2.33	0.51646	N	0.163	0.17140	-1.0298	0.20519	T	0.103	0.38019	T	10	0.06985924	0.10084	T	0.041491	0.59953	D	0.135	0.36572	.	.	0.400468435593	0.39662	0.4580767984702474	0.45725	0.765822542623	0.64496	0.197311609983	0.00383	T	0.025743	0.19191	T	-0.393523	0.02552	T	-0.464653	0.26095	T	0.0686833657113886	0.08465	T	0.660434	0.26965	T	0.10524921	0.24885	0.056732856	0.10190	0.10524921	0.24884	0.056732856	0.10189	-5.602	0.42810	T	0.15143793752019005	0.17866	0.092	0.13409	B	.	.	2.624591	0.34115	19.54	0.97905938700492445	0.36780	0.56812	0.30213	D	AEFBCI	0.306597	0.41370	N	-0.570796702540349	0.19837	1.041282	-0.462617855517965	0.23191	1.263476	0.999960554841578	0.48965	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	2.565000	0.45602	7.086000	0.57489	0.675000	0.71128	0.372000	0.25940	1.000000	0.68203	0.002000	0.04165	0.0:0.0:0.8443:0.1556	13.518	0.61010	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	.	.	.	.	.	.	.	.	0.05	1700.43	46	chr2	1638926	.	G	A	1700.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.998;DP=553;ExcessHet=0;FS=1.996;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.306;SOR=0.905	GT:AD:DP:GQ:PL	0/1:89,71:160:99:1712,0,2088	9	0	1	0
chr2	21007033	21007033	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.A9835G:p.S3279G	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1455	64	3	0	70	0.0234899	.	.	.	215238	Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_familial,_1|not_specified|Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_type_B|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN169374|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.264	.	0.0086	0.0071885	0.0044	0.0159	0.0067	0	0	0.0039	0.0121	0.0012	0.0044307	685	154602	rs12720854	0.0033	0.0033	0.0032	0.0033	0.0565	0.0032	0.0031	0.0515	0.0495	0.0184	0.0064	0.0102	0	0.0001	0.0565	0.0025	0.0065	0.0013	0.0076	0.0077	0.0076	0.0077	0.0170	0.0073	0.0071	0.0160	0.0156	0.0170	0	0.0103	0.0136	0.0002	0	0.0646	0.0029	0.0137	0.0010	0.015	0.52492	D	0.003	0.76473	D	.	.	.	.	.	.	0.232473	0.15889	N	0.611296	0.64386	0.30592	N	.	.	.	1.1	0.39050	T	-1.98	0.45769	N	0.246	0.27792	-0.6764	0.61538	T	0.159	0.49262	T	10	0.004425019	0.00090	T	.	.	.	0.264	0.57741	.	.	0.68203097115	0.67932	0.4890100810306947	0.48821	0.0491091118445	0.05371	0.247466355562	0.03505	T	.	.	.	-0.577868	0.00199	T	-0.589218	0.13734	T	0.0582436336760406	0.06889	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.	.	1.757170	0.22349	15.58	0.98647528733884859	0.44137	0.94699	0.62026	D	AEFBHCI	0.702324	0.65873	D	0.205179900652132	0.51449	3.326111	-0.00190597407924668	0.39631	2.352652	0.999990155919605	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.6	3.41	0.38145	3.427000	0.52552	0.098000	0.14610	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.120000	0.19168	0.0:0.0:0.1512:0.8488	11.412	0.49171	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.047835	0.080808	0.062500	0.073099	0.050000	0.094828	0.015244	0.000000	0.1	17371.1	43	chr2	21007033	.	T	C	17371.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.787;DP=1956;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.19;SOR=0.719	GT:AD:DP:GQ:PL	0/1:422,348:770:99:7934,0,11455	8	0	2	0
chr2	21015388	21015388	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon22:c.A3490G:p.R1164G	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	425009	Hypercholesterolemia,_familial,_1|not_provided|Cardiovascular_phenotype|Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1	MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	0.0872323104814	0.0003	0.000199681	4.942e-05	0	0	0	0	8.991e-05	0	0	5.17e-05	8	154602	rs149660265	2.463e-05	2.463e-05	2.586e-05	2.338e-05	0.0014	1.803e-05	1.6e-05	0.0007	0.0005	8.961e-05	0	0	0	0	0.0014	2.248e-05	0	0	7.222e-05	7.218e-05	7.709e-05	6.714e-05	0.0001	3.968e-05	3.125e-05	4.765e-05	3.339e-05	2.406e-05	0	6.537e-05	0	0	0	0.0068	0.0001	0	0	0.006	0.61437	D	0.001	0.83351	D	.	.	.	.	.	.	0.001746	0.38106	N	0.183760	0.876988	0.35674	D	.	.	.	5.63	0.00800	T	-3.14	0.64019	D	0.325	0.36569	-0.5994	0.64842	T	0.005	0.01506	T	10	0.25272202	0.42630	T	0.087232	0.74894	D	0.161	0.41658	.	.	0.731790606524	0.72940	0.722407770080351	0.72184	0.295235085784	0.31929	0.347360730171	0.17533	T	.	.	.	-0.30202	0.08471	T	-0.467057	0.25832	T	0.660339772701263	0.38911	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.32420	B	.	.	3.692893	0.52622	23.3	0.9953767473898355	0.70274	0.94889	0.62681	D	AEFGBHCI	0.856972	0.77427	D	0.273668600819173	0.54818	3.646533	0.36393373938131	0.59350	4.112244	0.999999970702727	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	5.065000	0.64175	4.177000	0.42312	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.795000	0.37519	0.0:0.0:0.0:1.0	14.478	0.67136	863	0.32847	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2518.43	36	chr2	21015388	.	T	C	2518.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.056;DP=549;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.161;SOR=0.696	GT:AD:DP:GQ:PL	0/1:131,105:236:99:2530,0,3401	9	0	1	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	.	.	.	.	.	.	.	.	0.3	149.87	81	chr2	23864893	.	T	C	149.87	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.021;DP=546;ExcessHet=4.5998;FS=193.172;InbreedingCoeff=-0.4024;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.279;SOR=8.069	GT:AD:DP:GQ:PL	0/1:51,26:77:87:87,0,631	4	0	6	0
chr2	26477448	26477448	G	A	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon2:c.C304T:p.R102W,OTOF:NM_004802:exon3:c.C133T:p.R45W,OTOF:NM_194323:exon3:c.C133T:p.R45W,OTOF:NM_001287489:exon20:c.C2374T:p.R792W,OTOF:NM_194248:exon20:c.C2374T:p.R792W	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	2	1515	4	1	0	6	0.00197628	.	.	YES	173514	not_provided|OTOF-related_disorder|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_9	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.575	0.171682035135	0.0009	0.000998403	0.0016	0.0006	0.0019	0	0.0044	0.0023	0.0026	9.978e-05	0.0008344	129	154602	rs148532589	0.0010	0.0010	0.0010	0.0011	0.0054	0.0010	0.0010	0.0039	0.0034	6.004e-05	0.0008	3.873e-05	0.0003	0.0021	0.0054	0.0011	0.0009	0.0003	0.0009	0.0009	0.0010	0.0009	0.0016	0.0008	0.0008	0.0011	0.0010	0.0002	0.0011	0.0016	0.0003	0.0004	0.0014	0.0068	0.0013	0.0009	0.0004	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.88	0.69275	P	0.000005	0.62929	D	0.059215	0.99995	0.52396	D	2.62	0.76659	M	-1.35	0.82165	T	-5.93	0.90254	D	0.838	0.95841	0.347	0.88289	D	0.650	0.87808	D	10	0.055429548	0.06057	T	0.171682	0.84888	D	0.575	0.82799	.	.	0.932794848971	0.93210	0.5238347411966803	0.52307	0.550788785342	0.51939	0.755890488625	0.75318	T	0.66333	0.89923	D	0.00484782	0.52320	T	0.220957	0.84220	D	0.0741519936977367	0.09222	T	0.979335	0.94010	D	0.73637146	0.80085	0.6075071	0.77177	0.73637146	0.80087	0.6075071	0.77178	-6.926	0.67142	T	0.7028354545097377	0.78203	0.342	0.59755	A	.;.;.;.;.;.	.;.;.;.;.;.	4.653384	0.74205	26.1	0.99915000433366108	0.98309	0.86422	0.45699	D	AEFDBI	0.785613	0.71594	D	0.267606188380337	0.54514	3.616834	0.165972568098358	0.47996	3.021518	0.999948484167828	0.47345	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.65	0.063	0.13661	0.958000	0.28825	4.525000	0.43702	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.3719:0.6281	13.943	0.63575	423	0.81269	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003036	0.000000	0.002732	0.008982	0.000000	0.017241	0.000000	0.000000	0.05	873.43	33	chr2	26477448	.	G	A	873.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.517;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.283;SOR=0.584	GT:AD:DP:GQ:PL	0/1:26,33:59:99:885,0,603	9	0	1	0
chr2	26577569	26577569	A	G	exonic	FAM166C	.	nonsynonymous SNV	FAM166C:NM_001322426:exon4:c.A364G:p.S122G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0092	0.0101837	0.0029	0.0344	0.0010	0	0	2.999e-05	0.0011	6.056e-05	0.0027878	431	154602	rs61742391	0.0009	0.0009	0.0010	0.0008	0.0313	0.0008	0.0008	0.0297	0.0291	0.0313	0.0014	0	0	0	0.0024	2.608e-05	0.0023	5.797e-05	0.0090	0.0090	0.0091	0.0089	0.0320	0.0086	0.0085	0.0306	0.0300	0.0320	0	0.0015	0	0	0	0	0.0001	0.0057	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.971882	0.38904	D	.	.	.	.	.	.	-4.0	0.74051	D	0.081	0.05670	-0.9931	0.31801	T	0.026	0.11264	T	5	0.0027613044	0.00043	T	.	.	.	0.085	0.24743	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.753614	0.00017	T	-0.829529	0.01270	T	0.0157559142619739	0.00366	T	0.371363	0.08780	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.34906	B	.	.	0.063622	0.04739	1.366	0.58596674869715337	0.06029	0.01954	0.05935	N	AEFDGBCI	0.016344	0.00362	N	-0.848447273420087	0.12088	0.5871265	-1.01249763159099	0.09510	0.4735474	0.999945610733367	0.47345	0.533608	0.22052	0	0.615948	0.52940	0	0.616487	0.41570	0	0.638833	0.57524	0	.	.	5.27	-2.48	0.06052	-0.016000	0.12550	-1.274000	0.05845	-1.663000	0.00811	0.050000	0.21411	0.000000	0.08366	0.003000	0.05239	0.2363:0.3009:0.3348:0.128	1.736	0.02766	409	0.82198	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	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	0.013587	0.017544	0.000000	0.000000	0.003049	0.000000	0.05	2306.43	40	chr2	26577569	.	A	G	2306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.995;DP=550;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.144;SOR=0.668	GT:AD:DP:GQ:PL	0/1:91,94:185:99:2318,0,2423	9	0	1	0
chr2	27685053	27685053	G	A	exonic	SLC4A1AP	.	nonsynonymous SNV	SLC4A1AP:NM_018158:exon10:c.G1892A:p.R631H	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0560288432549	0.0013	0.00119808	0.0006	0.0049	0.0015	0	0	6.022e-05	0	0.0001	0.0005433	84	154602	rs139206651	0.0002	0.0002	0.0002	0.0002	0.0045	0.0002	0.0002	0.0039	0.0037	0.0045	0.0012	0	0	0	0.0019	1.891e-05	0.0005	5.868e-05	0.0013	0.0013	0.0014	0.0012	0.0043	0.0012	0.0011	0.0038	0.0036	0.0043	0	0.0009	0	0	0	0.0034	4.411e-05	0.0019	0.0002	0.009	0.57480	D	0.032	0.54159	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.56	0.74772	M	1.39	0.33842	T	-1.85	0.43334	N	0.378	0.41952	-0.7170	0.59610	T	0.167	0.50583	T	10	0.00754714	0.00171	T	0.056029	0.66455	D	0.091	0.26358	.	.	0.47290127212	0.46918	0.2811221591836288	0.28025	1.03848036312	0.75702	0.71020925045	0.68625	T	0.12793	0.45526	T	-0.379135	0.03155	T	-0.316974	0.42906	T	0.0291245443825977	0.01856	T	0.958704	0.84427	D	0.1877438	0.40243	0.14868133	0.35137	0.1877438	0.40242	0.14868133	0.35136	-9.883	0.73208	D	.	.	0.122	0.37876	B	.;.;.	.;.;.	5.302952	0.89027	29.8	0.99916050777458265	0.98379	0.97125	0.72835	D	AEFGBI	0.682383	0.64541	D	0.647676976488637	0.76219	6.446127	0.602254089118336	0.75104	6.25177	0.999999636859536	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.38	4.5	0.54382	4.897000	0.62918	8.461000	0.77245	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0709:0.0:0.9291:0.0	14.589	0.67946	45	0.97767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001068	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2078.43	36	chr2	27685053	.	G	A	2078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.243;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.23;MQRankSum=-1.869;QD=13.67;ReadPosRankSum=1.16;SOR=0.741	GT:AD:DP:GQ:PL	0/1:68,84:152:99:2090,0,1542	9	0	1	0
chr2	29073489	29073489	C	A	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.G773T:p.R258I	.	0	1521	1	0	0	1	0.000328623	.	.	.	708224	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0094	0.0091853	0.0030	0.0328	0.0016	0	0	0.0002	0	0.0002	0.0027943	432	154602	rs116156338	0.0010	0.0010	0.0011	0.0009	0.0333	0.0010	0.0010	0.0317	0.0310	0.0333	0.0020	0.0024	0	0	0.0024	3.507e-05	0.0028	0.0001	0.0096	0.0096	0.0101	0.0090	0.0320	0.0091	0.0090	0.0306	0.0300	0.0320	0	0.0067	0.0017	0	0	0	4.409e-05	0.0057	0	0.085	0.32769	T	0.031	0.53788	D	0.006	0.13644	B	0.014	0.16862	B	0.059592	0.22312	N	0.501897	1	0.08975	N	.	.	.	2.24	0.17923	T	-2.19	0.49352	N	0.175	0.18784	-1.0395	0.17465	T	0.008	0.02638	T	10	0.0021783113	0.00031	T	.	.	.	0.034	0.08419	.	.	0.288727942641	0.28479	0.10284227816646828	0.10214	0.0296390397092	0.03046	.	.	.	0.033295	0.22852	T	-0.685675	0.00044	T	-0.734016	0.04147	T	0.0117558017010024	0.00181	T	0.768423	0.39759	T	0.1142053	0.26963	0.13647205	0.32647	0.1142053	0.26963	0.13647205	0.32646	-5.204	0.38982	T	.	.	0.122	0.25495	B	.	.	2.030677	0.25809	16.90	0.96083711974444497	0.28662	0.08641	0.14542	N	AEFDGBI	0.100552	0.20216	N	-0.673291225816871	0.16784	0.8582266	-0.620104758550294	0.18977	1.016157	0.622583626121594	0.21898	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.62	3.58	0.40133	0.786000	0.26505	1.389000	0.26100	0.599000	0.40250	0.003000	0.16062	0.673000	0.26078	0.012000	0.09680	0.0:0.7561:0.0:0.2439	11.117	0.47488	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	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	0.004532	0.000000	0.005435	0.011696	0.000000	0.000000	0.003049	0.003788	0.05	4109.43	47	chr2	29073489	.	C	A	4109.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.099;DP=1323;ExcessHet=0;FS=0.379;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.171;SOR=0.662	GT:AD:DP:GQ:PL	0/1:221,153:374:99:4121,0,6462	9	0	1	0
chr2	29073522	29073522	A	G	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.T740C:p.V247A	.	0	1521	1	0	0	1	0.000328623	.	.	.	708226	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.043	.	0.0093	0.0091853	0.0030	0.0328	0.0016	0	0	0.0002	0	0.0002	0.0027943	432	154602	rs77828062	0.0010	0.0010	0.0011	0.0009	0.0334	0.0010	0.0010	0.0317	0.0311	0.0334	0.0020	0.0024	0	0	0.0024	3.507e-05	0.0028	0.0001	0.0096	0.0096	0.0101	0.0090	0.0321	0.0092	0.0090	0.0306	0.0301	0.0321	0	0.0067	0.0017	0	0	0	4.412e-05	0.0057	0	0.244	0.17468	T	0.284	0.21411	T	0.865	0.47557	P	0.301	0.41090	B	0.014661	0.28470	N	0.361101	0.993976	0.23612	N	.	.	.	1.82	0.25018	T	-2.0	0.46146	N	0.116	0.10483	-1.0749	0.08369	T	0.015	0.05801	T	10	0.0025000274	0.00038	T	.	.	.	0.043	0.11576	.	.	0.675970969783	0.67322	0.1711632582851432	0.17036	0.021579088437	0.02143	.	.	.	0.016226	0.13452	T	-0.600588	0.00145	T	-0.611794	0.11840	T	0.0461164502634913	0.04804	T	0.512749	0.16428	T	0.08741807	0.20355	0.099121064	0.23655	0.08741807	0.20355	0.099121064	0.23654	-2.261	0.04347	T	.	.	0.302	0.53166	B	.	.	2.027353	0.25767	16.88	0.99627246301037176	0.75776	0.72015	0.35266	D	AEFDGBI	0.151321	0.27579	N	0.109915448438218	0.46925	2.925486	0.118476581072193	0.45496	2.81158	0.920280903874932	0.26627	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.62	4.49	0.54177	3.852000	0.55642	4.729000	0.44544	0.756000	0.94297	0.703000	0.28654	0.894000	0.27871	0.005000	0.06747	0.8938:0.0:0.1062:0.0	10.175	0.42109	449	0.79428	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	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	0.011696	0.000000	0.000000	0.000000	0.003788	0.05	4792.43	47	chr2	29073522	.	A	G	4792.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.12;DP=1369;ExcessHet=0;FS=0.525;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.214;SOR=0.746	GT:AD:DP:GQ:PL	0/1:243,176:419:99:4804,0,6582	9	0	1	0
chr2	30743428	30743428	G	A	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon13:c.C1400T:p.A467V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	.	0.0061	0.00399361	0.0016	0.0183	0.0005	0	0	0.0001	0	0	0.0015265	236	154602	rs80066698	0.0006	0.0006	0.0007	0.0006	0.0214	0.0006	0.0006	0.0201	0.0196	0.0214	0.0010	0	2.519e-05	0	0.0009	6.926e-05	0.0016	4.637e-05	0.0055	0.0055	0.0056	0.0055	0.0190	0.0052	0.0051	0.0179	0.0175	0.0190	0	0.0024	0	0.0002	0	0	0.0001	0.0033	0	0.6	0.05635	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.188971	0.03236	N	1.922980	1	0.08975	N	-0.69	0.01958	N	-2.4	0.88455	D	-0.5	0.15782	N	0.289	0.32701	-0.7715	0.56775	T	0.163	0.49897	T	10	0.004886955	0.00104	T	.	.	.	0.301	0.62179	.	.	0.422762650823	0.41893	0.32644911975960844	0.32557	0.0607266434557	0.06755	0.30071747303	0.10508	T	0.200453	0.55805	T	-0.445946	0.01193	T	-0.397752	0.33646	T	0.00350838110831944	0.00037	T	0.310869	0.06046	T	0.022608576	0.00936	0.04203741	0.04915	0.022608576	0.00936	0.04203741	0.04914	-3.29	0.13608	T	.	.	0.099	0.16538	B	.	.	-0.366319	0.02342	0.252	0.69625885820983924	0.09032	0.00248	0.01370	N	AEFBI	0.034414	0.04257	N	-1.68537549736341	0.00895	0.03873507	-1.64918202048539	0.01380	0.0623488	0.0232642643586011	0.13494	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.52	-2.67	0.05703	-0.350000	0.07769	0.310000	0.17073	-0.739000	0.03678	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6904:0.0:0.3096:0.0	13.014	0.58155	854	0.34840	Peptidase C2, calpain, large subunit, domain 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	0.004028	0.000000	0.010870	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1320.43	36	chr2	30743428	.	G	A	1320.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.373;DP=439;ExcessHet=0;FS=0.654;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.079;SOR=0.611	GT:AD:DP:GQ:PL	0/1:70,60:130:99:1332,0,1548	9	0	1	0
chr2	33364339	33364339	G	A	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_001166264:exon25:c.G3419A:p.R1140Q,LTBP1:NM_001166266:exon25:c.G3260A:p.R1087Q,LTBP1:NM_000627:exon26:c.G3545A:p.R1182Q,LTBP1:NM_001166265:exon26:c.G3386A:p.R1129Q,LTBP1:NM_206943:exon30:c.G4523A:p.R1508Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	2768282	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.110	0.042033281907	.	.	1.661e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs776305062	1.848e-05	1.847e-05	1.906e-05	1.789e-05	0.0002	1.266e-05	1.085e-05	0.0001	0.0001	0.0001	0	0	0	0	0	1.799e-06	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.12632	T	0.554	0.15456	T	0.012	0.16265	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	-1.35	0.80035	T	-0.32	0.13418	N	0.266	0.39760	-0.8651	0.50893	T	0.310	0.68039	T	9	0.04400447	0.03309	T	0.042033	0.60250	D	0.110	0.31079	0.353	0.35246	0.123314135267	0.11883	0.42488900477367403	0.42405	0.149980470515	0.16919	0.210463032126	0.00831	T	0.129939	0.45853	T	-0.336584	0.05628	T	-0.484587	0.23960	T	0.0143865193751276	0.00289	T	0.852615	0.53799	D	0.027185457	0.01876	0.04741388	0.06822	0.027185457	0.01875	0.04741388	0.06822	-5.673	0.44592	T	.	.	0.060	0.03811	B	.;.;.;.;.	.;.;.;.;.	0.940947	0.13168	9.667	0.74966074742575028	0.10894	0.06355	0.12354	N	AEFGBI	0.060686	0.11551	N	-1.29741318138643	0.03707	0.1660684	-1.30873828180223	0.04316	0.2033252	0.999935620407421	0.46732	0.706298	0.61202	0	0.573888	0.26702	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.12	-1.87	0.07317	0.494000	0.22175	2.144000	0.30864	-0.127000	0.13314	0.036000	0.20778	0.836000	0.27257	0.117000	0.19042	0.5266:0.0:0.4734:0.0	10.690	0.45061	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	.	.	.	.	.	.	.	.	0.05	1386.43	38	chr2	33364339	.	G	A	1386.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.948;DP=434;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.099;SOR=0.56	GT:AD:DP:GQ:PL	0/1:58,58:116:99:1398,0,1458	9	0	1	0
chr2	33585568	33585568	C	T	exonic	FAM98A	.	nonsynonymous SNV	FAM98A:NM_001304538:exon6:c.G265A:p.G89S,FAM98A:NM_015475:exon7:c.G850A:p.G284S	.	438	1083	1	0	0	1	0.000461467	.	.	.	2248205	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.316	0.0603871614955	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341230632	4.788e-06	5.472e-06	6.806e-06	2.75e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.102	0.34095	T	0.039	0.55759	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.8	0.48769	T	-2.2	0.49519	N	0.646	0.65758	-0.6046	0.64627	T	0.293	0.66441	T	10	0.6062636	0.67192	D	0.060387	0.67983	D	0.316	0.63799	.	.	0.21174354426	0.20776	0.5880683130342318	0.58736	0.487873399504	0.47601	0.675837039948	0.63673	T	.	.	.	-0.00519172	0.50936	T	-0.245234	0.50286	T	0.902391314506531	0.55535	D	0.974303	0.95630	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.75899	P	.;.	.;.	4.601347	0.72877	25.9	0.99709583962975845	0.81213	0.99681	0.98618	D	AEFBI	0.928491	0.91279	D	0.735468011974006	0.81958	7.645274	0.726593197946371	0.84395	8.280749	0.999999999999888	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	7.751000	0.84010	5.938000	0.51432	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.459	0.94901	807	0.43470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1676.43	34	chr2	33585568	.	C	T	1676.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.762;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.463;SOR=0.675	GT:AD:DP:GQ:PL	0/1:62,66:128:99:1688,0,1465	9	0	1	0
chr2	36981635	36981635	A	C	exonic	HEATR5B	.	nonsynonymous SNV	HEATR5B:NM_019024:exon36:c.T6071G:p.V2024G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.1825336059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.981	0.59675	D	0.838	0.60045	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	-0.24	0.66834	T	-5.34	0.84674	D	0.72	0.72209	-0.0967	0.80174	T	0.430	0.77206	T	10	0.8576568	0.84969	D	0.182534	0.85627	D	0.808	0.93777	0.701	0.83777	0.744207644143	0.74190	0.7671705726874721	0.76666	0.466828294112	0.46077	0.807411313057	0.83095	D	0.31706	0.68854	T	0.35581	0.86926	D	0.27332	0.86754	D	0.993460416793823	0.84273	D	0.815218	0.46991	T	0.81633615	0.84974	0.8453379	0.91192	0.81633615	0.84975	0.8453379	0.91192	-6.944	0.53624	T	.	.	0.960	0.88070	P	.	.	4.752972	0.76773	26.6	0.99622264701944974	0.75473	0.98925	0.88709	D	AEFBI	0.904328	0.85449	D	0.791480767864846	0.85567	8.615401	0.791096993085993	0.89167	9.865248	0.999991029511885	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.61	5.61	0.85347	9.031000	0.93222	11.252000	0.90779	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.102	0.81002	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1191.43	33	chr2	36981635	.	A	C	1191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=431;ExcessHet=0;FS=3.51;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.198;SOR=1.099	GT:AD:DP:GQ:PL	0/1:66,48:114:99:1203,0,1621	9	0	1	0
chr2	68866476	68866476	C	T	exonic	BMP10	.	nonsynonymous SNV	BMP10:NM_014482:exon2:c.G430A:p.E144K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	0.165851480792	.	.	1.654e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs750438622	3.421e-06	3.42e-06	2.723e-06	4.125e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	-0.73	0.73100	T	-3.25	0.65283	D	0.955	0.96416	0.227	0.86371	D	0.586	0.85149	D	10	0.96778953	0.96299	D	0.165851	0.84461	D	0.828	0.94541	0.837	0.94418	0.848838842824	0.84739	0.9377685575499655	0.93756	1.0664861996	0.76637	0.62247210741	0.56078	T	0.880769	0.97499	D	0.237348	0.77410	D	0.284685	0.87372	D	0.79102804609368	0.45757	D	0.939806	0.77272	D	0.8191248	0.85161	0.74604064	0.84989	0.8191248	0.85162	0.74604064	0.84990	-7.75	0.59354	D	.	.	0.668	0.71640	P	.	.	4.707895	0.75603	26.4	0.99932470607961787	0.99439	0.99657	0.98405	D	AEFBI	0.942832	0.94791	D	0.897757908978927	0.91649	10.99188	0.871631397603469	0.94212	12.58918	0.999999999999918	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	7.715000	0.83682	7.682000	0.65344	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.108	0.93286	829	0.39537	TGF-beta, propeptide	.	.	.	.	.	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	5342.14	220	chr2	68866476	.	C	T	5342.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.373;DP=697;ExcessHet=0.2348;FS=5.259;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.02;SOR=0.41	GT:AD:DP:GQ:PL	0/1:89,101:190:99:2443,0,2344	8	0	2	0
chr2	69245307	69245307	C	T	exonic	ANTXR1	.	nonsynonymous SNV	ANTXR1:NM_032208:exon18:c.C1517T:p.P506L	GAPO syndrome, Autosomal recessive	442	1078	2	0	0	2	0.000926784	.	.	.	2117164	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.095	0.01205753027	7.7e-05	0.000399361	0.0005	0	0.0002	0	0.0009	0.0005	0.0011	0.0012	0.0004269	66	154602	rs200543195	0.0004	0.0004	0.0004	0.0005	0.0012	0.0004	0.0004	0.0010	0.0010	8.962e-05	0.0004	0	0	0.0006	0.0002	0.0004	0.0003	0.0012	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	2.439e-05	0	0.0001	0	0	0.0003	0	0.0005	0	0.0011	0.212	0.19500	T	0.004	0.74150	D	0.0	0.02946	B	0.0	0.01387	B	0.066029	0.21838	N	0.397090	0.999625	0.20843	N	1.975	0.53506	M	1.53	0.30401	T	-1.37	0.33998	N	0.191	0.20925	-0.9840	0.34069	T	0.051	0.21883	T	10	0.016046315	0.00337	T	0.012058	0.30290	T	0.095	0.27398	.	.	0.251679625132	0.24793	0.28217304059455833	0.28130	0.172866943843	0.19464	0.671143889427	0.63001	T	0.155564	0.49735	T	-0.503146	0.00549	T	-0.545951	0.17716	T	0.0471520305336068	0.04992	T	0.655934	0.26583	T	0.057583548	0.11479	0.039262746	0.03978	0.05248066	0.09794	0.040156636	0.04276	-4.593	0.32083	T	.	.	0.072	0.04316	B	.	.	2.385456	0.30625	18.49	0.48035223439232139	0.03976	0.69739	0.34308	D	AEFDBI	0.162205	0.28835	N	-0.573468440810704	0.19754	1.036312	-0.512028297024326	0.21826	1.182586	0.999991405040713	0.74766	0.706298	0.61202	0	0.657636	0.61667	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.34	3.43	0.38372	3.292000	0.51478	2.228000	0.31507	0.454000	0.21428	0.880000	0.30988	0.026000	0.21063	0.005000	0.06747	0.1497:0.763:0.0:0.0873	8.92	0.34765	823	0.40596	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000517	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2098.43	34	chr2	69245307	.	C	T	2098.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.68;DP=488;ExcessHet=0;FS=4.892;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-1.919;SOR=1.091	GT:AD:DP:GQ:PL	0/1:78,85:163:99:2110,0,1623	9	0	1	0
chr2	70921265	70921265	C	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.C415A:p.L139M	.	10	1450	61	1	0	63	0.0212622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.843	.	0.0018	0.00599042	0.0045	0.0006	0.0012	0.0001	0.0005	0.0023	0.0080	0.0223	0.0040168	621	154602	rs56075602	0.0034	0.0034	0.0028	0.0040	0.0218	0.0033	0.0033	0.0209	0.0206	0.0003	0.0007	0.0008	2.528e-05	0.0005	0.0073	0.0024	0.0038	0.0218	0.0019	0.0019	0.0015	0.0022	0.0199	0.0017	0.0016	0.0167	0.0155	0.0005	0	0.0010	0.0009	0	0.0008	0.0102	0.0020	0.0009	0.0199	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.999999	0.58761	D	3.28	0.90206	M	-4.79	0.98155	D	-1.87	0.43717	N	0.835	0.83066	1.084	0.99011	D	0.963	0.98797	D	10	0.012894422	0.00275	T	.	.	.	0.843	0.95101	.	.	0.994496113608	0.99443	0.48373213927814934	0.48293	0.291920001814	0.31603	0.739147901535	0.72847	T	0.708417	0.91663	D	0.072921	0.61203	D	0.349555	0.90297	D	0.0772881118984215	0.09637	T	0.910909	0.68443	D	0.5141345	0.67921	0.46391258	0.68881	0.5141345	0.67922	0.46391258	0.68881	-8.698	0.65733	D	.	.	0.829	0.78671	P	.	.	3.820018	0.55149	23.6	0.99643519408860837	0.76819	0.93748	0.59079	D	AEFBI	0.639393	0.61746	D	0.61188462827725	0.73923	6.046364	0.513243209958108	0.68880	5.281514	0.999775004554386	0.42865	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	3.63	0.40741	3.127000	0.50178	2.656000	0.33848	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.8331:0.0:0.1669	9.833	0.40121	723	0.55174	Homeobox domain|Homeobox domain, metazoa|Helix-turn-helix motif|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	0.006067	0.000000	0.005435	0.002924	0.000000	0.008621	0.006211	0.015152	0.15	3677.45	97	chr2	70921265	.	C	A	3677.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.035;DP=572;ExcessHet=0.7463;FS=2.122;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-1.437;SOR=0.573	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1455,0,1224	7	0	3	0
chr2	73550273	73550273	A	G	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon13:c.A9914G:p.N3305S,ALMS1:NM_015120:exon13:c.A9914G:p.N3305S	Alstrom syndrome, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	YES	380199	not_provided|not_specified|Alstrom_syndrome|Monogenic_diabetes|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.193	.	0.0031	0.0071885	0.0060	0.0002	0.0027	0.0008	0	0.0033	0.0056	0.0276	0.0054204	838	154602	rs142022233	0.0037	0.0037	0.0029	0.0045	0.0270	0.0036	0.0036	0.0261	0.0257	0.0003	0.0030	0.0034	0.0005	0.0001	0.0156	0.0022	0.0039	0.0270	0.0024	0.0024	0.0021	0.0026	0.0240	0.0022	0.0021	0.0205	0.0191	0.0004	0	0.0024	0.0026	0.0012	0	0.0068	0.0025	0.0028	0.0240	.	.	.	0.452	0.13441	T	.	.	.	.	.	.	0.000070	0.52346	D	0.000000	0.747461	0.29672	N	.	.	.	.	.	.	.	.	.	0.397	0.45709	-1.1846	0.00306	T	0.053	0.22617	T	10	0.008951098	0.00203	T	.	.	.	.	.	.	.	0.387042434762	0.38315	0.2530542708480999	0.25219	.	.	0.466330945492	0.34177	T	0.147434	0.48552	T	-0.353964	0.04483	T	-0.260949	0.48729	T	0.0475975534662284	0.05071	T	0.913609	0.69252	D	0.11530842	0.27212	0.14578831	0.34563	0.088071	0.20533	0.14003943	0.33393	-1.168	0.01206	T	0.5402525145478876	0.60999	0.201	0.42448	B	.;.;.	.;.;.	3.225189	0.43964	21.8	0.99837729661645302	0.91886	0.87337	0.46846	D	AEFDI	0.416386	0.48486	N	0.531581777356632	0.68969	5.29081	0.517269409425896	0.69152	5.319784	0.0874509147859097	0.16035	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.83	5.83	0.93059	4.178000	0.58079	6.801000	0.56627	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.346000	0.25568	1.0:0.0:0.0:0.0	12.576	0.55717	568	0.70638	.;.;.	.	.	.	.	.	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	0.009073	0.000000	0.009511	0.014620	0.000000	0.000000	0.009146	0.011364	0.05	518.43	33	chr2	73550273	.	A	G	518.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.455;DP=373;ExcessHet=0;FS=6.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.951;SOR=1.609	GT:AD:DP:GQ:PL	0/1:29,22:51:99:530,0,785	9	0	1	0
chr2	85344131	85344131	-	GT	exonic	RETSAT	.	frameshift insertion	RETSAT:NM_017750:exon9:c.1400_1401insAC:p.Y468Pfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0002	0.0004	0.0411	0	1.499e-05	0.0022	0.0016	3.84e-05	1	26028	rs774169688	0.0013	0.0015	0.0013	0.0013	0.0363	0.0013	0.0013	0.0348	0.0341	0.0002	0.0001	0	0.0363	0	0	3.867e-05	0.0042	0.0024	0.0022	0.0023	0.0019	0.0026	0.0545	0.0021	0.0020	0.0493	0.0472	0.0004	0	0.0008	0	0.0545	0	0	0.0001	0.0019	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3278.39	36	chr2	85344131	.	G	GGT	3278.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.576;DP=449;ExcessHet=0;FS=9.649;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.61;MQRankSum=-4.013;QD=24.65;ReadPosRankSum=-0.754;SOR=0.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,82:133:99:0|1:85344131_G_GGT:3290,0,1874:85344131	9	0	1	0
chr2	85344134	85344135	AG	-	exonic	RETSAT	.	frameshift deletion	RETSAT:NM_017750:exon9:c.1397_1398del:p.T466Sfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0002	0.0004	0.0410	0	1.499e-05	0.0022	0.0016	3.84e-05	1	26028	rs759186033	0.0013	0.0015	0.0014	0.0013	0.0364	0.0013	0.0013	0.0349	0.0342	0.0002	0.0001	0	0.0364	0	0	3.867e-05	0.0042	0.0024	0.0022	0.0023	0.0019	0.0026	0.0546	0.0021	0.0020	0.0494	0.0473	0.0004	0	0.0008	0	0.0546	0	0	0.0001	0.0019	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3278.39	36	chr2	85344133	.	CAG	C	3278.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.041;DP=449;ExcessHet=0;FS=9.649;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.61;MQRankSum=-4.013;QD=24.65;ReadPosRankSum=-0.302;SOR=0.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,82:133:99:0|1:85344131_G_GGT:3290,0,1874:85344131	9	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	.	.	.	.	.	.	.	.	0.35	2261.95	255	chr2	94876587	.	C	A	2261.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.331;DP=2020;ExcessHet=7.0302;FS=4.884;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.43;MQRankSum=-15.6;QD=1.32;ReadPosRankSum=-3.168;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:227,18:245:73:0|1:94876587_C_A:73,0,9449:94876587	3	0	7	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	.	.	.	.	.	.	.	.	0.4	12818.0	371	chr2	94876618	.	C	G	12818.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.592;DP=2902;ExcessHet=10.3881;FS=1.546;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.49;MQRankSum=-16.9;QD=4.98;ReadPosRankSum=-3.186;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,54:325:99:0|1:94876587_C_A:1452,0,11217:94876587	2	0	8	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	0.45	17750.0	414	chr2	94876632	.	C	T	17750.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.235;DP=3296;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.17;MQRankSum=-17.88;QD=5.56;ReadPosRankSum=-1.61;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,68:346:99:0|1:94876587_C_A:1998,0,11411:94876587	1	0	9	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	.	.	.	.	.	.	.	.	0.45	22415.0	462	chr2	94876671	.	A	G	22415.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.483;DP=3731;ExcessHet=15.1594;FS=0.656;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.88;MQRankSum=-18.99;QD=6.13;ReadPosRankSum=4.6;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,81:387:99:0|1:94876671_A_G:2480,0,12492:94876671	1	0	9	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	0.45	22825.0	467	chr2	94876674	.	G	A	22825.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.542;DP=3741;ExcessHet=15.1594;FS=0.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.87;MQRankSum=-19.21;QD=6.22;ReadPosRankSum=4.81;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,81:388:99:0|1:94876671_A_G:2477,0,12551:94876671	1	0	9	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	0.4	9474.98	407	chr2	94876731	.	C	T	9474.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.787;DP=3262;ExcessHet=10.3881;FS=2.421;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.44;MQRankSum=-19.06;QD=3.04;ReadPosRankSum=-0.667;SOR=0.952	GT:AD:DP:GQ:PL	0/1:291,61:352:99:1017,0,7519	2	0	8	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3218.11	408	chr2	94876737	.	C	A	3218.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.43;DP=2132;ExcessHet=2.8389;FS=1.922;InbreedingCoeff=-0.3316;MLEAC=5;MLEAF=0.25;MQ=57.08;MQRankSum=-12.5;QD=1.67;ReadPosRankSum=-1.101;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:331,25:356:54:0|1:94876737_C_A:54,0,13640:94876737	5	0	5	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3284.14	401	chr2	94876740	.	A	C	3284.14	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.303;DP=2122;ExcessHet=2.8389;FS=1.912;InbreedingCoeff=-0.3332;MLEAC=5;MLEAF=0.25;MQ=57.08;MQRankSum=-12.57;QD=1.72;ReadPosRankSum=-1.808;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,25:350:72:0|1:94876737_C_A:72,0,13489:94876737	5	0	5	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10728.0	198	chr2	95855390	.	T	C	10728.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=3.24;DP=2185;ExcessHet=22.563;FS=21.098;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.81;MQRankSum=-10.64;QD=5.08;ReadPosRankSum=-6.398;SOR=2.057	GT:AD:DP:GQ:PL	0/1:180,75:255:99:1630,0,4785	0	0	10	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	.	.	.	.	.	.	.	.	0.25	2496.4	201	chr2	95855406	.	C	G	2496.4	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.676;DP=2375;ExcessHet=2.8389;FS=5.12;InbreedingCoeff=-0.3061;MLEAC=4;MLEAF=0.2;MQ=53.72;MQRankSum=-6.642;QD=2.08;ReadPosRankSum=-2.045;SOR=1.277	GT:AD:DP:GQ:PL	0/1:233,54:287:99:766,0,6602	5	0	5	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	29732.0	323	chr2	95855549	.	T	C	29732.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.71;DP=3043;ExcessHet=22.563;FS=10.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.38;MQRankSum=-11.67;QD=10.06;ReadPosRankSum=0.065;SOR=1.292	GT:AD:DP:GQ:PL	0/1:166,185:351:99:4138,0,4294	0	0	10	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	23128.0	277	chr2	95855576	.	A	G	23128.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.388;DP=2563;ExcessHet=22.563;FS=25.938;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.02;MQRankSum=-11.14;QD=9.29;ReadPosRankSum=-3.416;SOR=1.932	GT:AD:DP:GQ:PL	0/1:162,112:274:99:3289,0,4687	0	0	10	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	2532.98	278	chr2	95855586	.	T	C	2532.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.765;DP=2381;ExcessHet=10.3881;FS=20.257;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.03;MQRankSum=-5.391;QD=1.31;ReadPosRankSum=-1.294;SOR=2.4	GT:AD:DP:GQ:PL	0/1:211,41:252:99:593,0,8304	2	0	8	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	16467.0	271	chr2	95855588	.	T	C	16467.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.817;DP=2387;ExcessHet=22.563;FS=33.426;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=47.27;MQRankSum=-10.54;QD=7.16;ReadPosRankSum=-3.626;SOR=2.329	GT:AD:DP:GQ:PL	0/1:164,81:245:99:2275,0,4723	0	0	10	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	10909.0	176	chr2	95859969	.	A	AT	10909.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.932;DP=1221;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.94;MQRankSum=-7.848;QD=9.05;ReadPosRankSum=0.563;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,42:137:99:0|1:95859969_A_AT:1478,0,3781:95859969	0	0	10	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	10942.0	176	chr2	95859970	.	G	T	10942.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.161;DP=1219;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.93;MQRankSum=-7.945;QD=9.05;ReadPosRankSum=0.658;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,42:138:99:0|1:95859969_A_AT:1475,0,3803:95859969	0	0	10	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	10894.0	178	chr2	95859975	.	C	T	10894.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.325;DP=1203;ExcessHet=22.563;FS=2.826;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.89;MQRankSum=-7.848;QD=9.12;ReadPosRankSum=0.594;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,42:135:99:0|1:95859969_A_AT:1484,0,3738:95859969	0	0	10	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	9586.04	176	chr2	95859988	.	T	C	9586.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.058;DP=1199;ExcessHet=22.563;FS=2.87;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.82;MQRankSum=-7.568;QD=8.1;ReadPosRankSum=-0.168;SOR=0.973	GT:AD:DP:GQ:PL	0/1:99,40:139:99:1383,0,2491	0	0	10	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	7776.04	171	chr2	95860002	.	T	A	7776.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.667;DP=1147;ExcessHet=22.563;FS=2.169;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.83;MQRankSum=-6.851;QD=6.85;ReadPosRankSum=-0.911;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,36:134:99:0|1:95860002_T_A:1217,0,3953:95860002	0	0	10	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	8461.04	165	chr2	95860007	.	A	T	8461.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.586;DP=1122;ExcessHet=22.563;FS=3.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.81;MQRankSum=-7.219;QD=7.6;ReadPosRankSum=-1.213;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,35:133:99:0|1:95860002_T_A:1175,0,3955:95860002	0	0	10	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	7240.04	151	chr2	95860020	.	G	A	7240.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.1;DP=1028;ExcessHet=22.563;FS=5.221;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.247;QD=7.14;ReadPosRankSum=-1.475;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,32:121:99:0|1:95860020_G_A:1076,0,3608:95860020	0	0	10	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	6874.04	150	chr2	95860023	.	A	C	6874.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.07;DP=1000;ExcessHet=22.563;FS=6.519;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.331;QD=6.9;ReadPosRankSum=-1.636;SOR=1.231	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,30:119:99:0|1:95860020_G_A:972,0,3614:95860020	0	0	10	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	.	.	.	.	.	.	.	.	0.45	4291.02	127	chr2	95860046	.	C	A	4291.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.879;DP=789;ExcessHet=15.1594;FS=10.476;InbreedingCoeff=-0.8183;MLEAC=9;MLEAF=0.45;MQ=58.48;MQRankSum=-7.511;QD=5.8;ReadPosRankSum=-0.896;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,23:97:99:.:.:736,0,1919:.	1	0	9	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	6780.01	153	chr2	95927222	.	G	GAT	6780.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.39;DP=1300;ExcessHet=22.563;FS=36.882;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.27;MQRankSum=-8.534;QD=5.25;ReadPosRankSum=-4.266;SOR=3.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,32:166:99:0|1:95927222_G_GAT:940,0,5508:95927222	0	0	10	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	10021.0	172	chr2	95927226	.	GTT	G	10021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.93;DP=1457;ExcessHet=22.563;FS=15.566;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.12;MQRankSum=-9.165;QD=6.89;ReadPosRankSum=-4.116;SOR=2.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,42:183:99:0|1:95927222_G_GAT:1339,0,5771:95927222	0	0	10	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	13156.0	192	chr2	95927234	.	T	C	13156.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.459;DP=1595;ExcessHet=22.563;FS=10.628;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.9;MQRankSum=-9.948;QD=8.25;ReadPosRankSum=-5.267;SOR=1.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,51:197:99:0|1:95927222_G_GAT:1702,0,5977:95927222	0	0	10	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	26684.0	255	chr2	95927252	.	A	G	26684.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.671;DP=2139;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.89;MQRankSum=-12.53;QD=12.48;ReadPosRankSum=-5.1;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,94:262:99:0|1:95927222_G_GAT:3441,0,6771:95927222	0	0	10	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	36703.0	299	chr2	95927268	.	C	A	36703.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-4.947;DP=2541;ExcessHet=22.563;FS=3.353;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.06;MQRankSum=-13.88;QD=14.46;ReadPosRankSum=-4.025;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,123:300:99:0|1:95927222_G_GAT:4531,0,7059:95927222	0	0	10	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	37021.0	320	chr2	95927277	.	C	T	37021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.131;DP=2686;ExcessHet=22.563;FS=3.336;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.08;MQRankSum=-14.3;QD=14.04;ReadPosRankSum=-1.349;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,126:312:99:0|1:95927222_G_GAT:4589,0,7248:95927222	0	0	10	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	13585.0	206	chr2	95929092	.	T	C	13585.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.99;DP=1657;ExcessHet=22.563;FS=12.134;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=48.26;MQRankSum=-8.366;QD=8.24;ReadPosRankSum=-2.829;SOR=1.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,68:223:99:0|1:95929092_T_C:2349,0,6238:95929092	0	0	10	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	16538.0	236	chr2	95929110	.	A	G	16538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=8.4;DP=1892;ExcessHet=22.563;FS=17.499;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.47;MQRankSum=-8.35;QD=8.75;ReadPosRankSum=-1.353;SOR=1.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,84:255:99:0|1:95929092_T_C:3012,0,6927:95929092	0	0	10	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	23460.0	271	chr2	95929126	.	C	A	23460.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=4.32;DP=2223;ExcessHet=22.563;FS=26.443;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.92;MQRankSum=-9.139;QD=10.56;ReadPosRankSum=-1.058;SOR=2.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,106:294:99:0|1:95929092_T_C:3885,0,7575:95929092	0	0	10	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	24873.0	281	chr2	95929130	.	G	C	24873.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.79;DP=2277;ExcessHet=22.563;FS=24.162;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.53;MQRankSum=-8.928;QD=10.93;ReadPosRankSum=-1.036;SOR=2.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,110:304:99:0|1:95929092_T_C:4035,0,7815:95929092	0	0	10	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	26298.0	285	chr2	95929135	.	C	T	26298.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.09;DP=2381;ExcessHet=22.563;FS=26.117;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=43.98;MQRankSum=-8.81;QD=11.3;ReadPosRankSum=-1.019;SOR=2.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,118:316:99:0|1:95929092_T_C:4301,0,7918:95929092	0	0	10	0
chr2	96354198	96354198	G	A	exonic	NCAPH	.	nonsynonymous SNV	NCAPH:NM_001281712:exon8:c.G610A:p.V204I,NCAPH:NM_001281710:exon9:c.G985A:p.V329I,NCAPH:NM_001281711:exon9:c.G946A:p.V316I,NCAPH:NM_015341:exon9:c.G1018A:p.V340I	.	432	1082	8	0	0	8	0.00368324	.	.	.	3211553	NCAPH-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.0055618827627	.	0.00119808	0.0009	0	0.0002	0	0.0002	7.502e-05	0.0022	0.0063	0.0007891	122	154602	rs536560583	0.0004	0.0004	0.0003	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	4.473e-05	0	2.52e-05	5.616e-05	0.0019	6.025e-05	0.0005	0.0058	0.0003	0.0003	0.0001	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	0	0	0	0	0	0	0	7.35e-05	0.0005	0.0068	0.23	0.18308	T	0.351	0.36365	T	0.009	0.17989	B	0.017	0.19966	B	0.004686	0.33486	N	0.311859	0.903236	0.27659	N	1.555	0.39373	L	0.94	0.43672	T	0.04	0.06488	N	0.057	0.02964	-1.0486	0.14790	T	0.079	0.31466	T	10	0.009620041	0.00217	T	0.005562	0.14349	T	0.027	0.05988	0.493	0.58048	0.360163838653	0.35632	0.0839256415918071	0.08326	0.162679693252	0.18360	0.395833849907	0.24489	T	0.024314	0.18398	T	-0.586084	0.00177	T	-0.61245	0.11786	T	0.0147583170771568	0.00309	T	0.730127	0.34567	T	0.025312321	0.01455	0.043337874	0.05370	0.028445465	0.02183	0.040646534	0.04439	-3.93	0.22753	T	0.14988255244189536	0.17562	0.087	0.17953	B	.;.;.;.	.;.;.;.	1.788000	0.22733	15.74	0.97489165973505298	0.34230	0.64636	0.32472	D	AEFDBHCI	0.092251	0.18679	N	-0.324180257178981	0.28233	1.555503	-0.213028626270591	0.31066	1.754797	0.999956754152261	0.48110	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.08	2.08	0.26079	-0.085000	0.11215	1.572000	0.27423	0.676000	0.76740	0.929000	0.32243	1.000000	0.68203	0.979000	0.57723	0.2839:0.0:0.5368:0.1792	3.464	0.07111	287	0.88635	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.1	2256.14	35	chr2	96354198	.	G	A	2256.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.404;DP=497;ExcessHet=0.2348;FS=3.926;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.004;SOR=0.487	GT:AD:DP:GQ:PL	0/1:71,54:125:99:1231,0,1927	8	0	2	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2008.94	160	chr2	97185336	.	GC	G	2008.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.691;DP=1002;ExcessHet=10.3881;FS=1.877;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.13;MQRankSum=-4.821;QD=2.23;ReadPosRankSum=0.714;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,15:139:99:1|0:97185332_A_G:257,0,5121:97185332	2	0	8	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	.	.	.	.	.	.	.	.	0.4	2007.98	167	chr2	97185340	.	C	G	2007.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.465;DP=1013;ExcessHet=10.3881;FS=1.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.82;MQRankSum=-4.808;QD=2.2;ReadPosRankSum=0.876;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,15:140:99:1|0:97185332_A_G:254,0,5204:97185332	2	0	8	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1983.94	169	chr2	97185341	.	A	AG	1983.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.507;DP=1021;ExcessHet=10.3881;FS=0.867;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.66;MQRankSum=-4.689;QD=2.15;ReadPosRankSum=1.2;SOR=0.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,15:143:99:1|0:97185332_A_G:245,0,5330:97185332	2	0	8	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1905.94	179	chr2	97185345	.	GTAAT	G	1905.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.397;DP=1063;ExcessHet=10.3881;FS=0.865;InbreedingCoeff=-0.6663;MLEAC=8;MLEAF=0.4;MQ=45.93;MQRankSum=-4.495;QD=1.98;ReadPosRankSum=1.87;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,15:149:99:1|0:97185332_A_G:226,0,5581:97185332	2	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	.	.	.	.	.	.	.	.	0.15	220.23	35	chr2	97243982	.	A	G	220.23	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.51;DP=686;ExcessHet=0.7463;FS=18.92;InbreedingCoeff=-0.1965;MLEAC=3;MLEAF=0.15;MQ=39.09;MQRankSum=-2.496;QD=0.65;ReadPosRankSum=0.467;SOR=1.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,16:213:79:0|1:97243981_C_T:79,0,8193:97243981	7	0	3	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	.	.	.	.	.	.	.	.	0.2	400.57	35	chr2	97243989	.	C	T	400.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.099;DP=774;ExcessHet=1.5895;FS=29.789;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=38.65;MQRankSum=-2.483;QD=1.01;ReadPosRankSum=0.724;SOR=1.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,17:205:99:0|1:97243981_C_T:148,0,7832:97243981	6	0	4	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	22311.0	211	chr2	97513220	.	G	A	22311.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.053;DP=1505;ExcessHet=22.563;FS=2.574;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.14;MQRankSum=-3.622;QD=14.84;ReadPosRankSum=0.342;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,74:137:99:0|1:97513219_T_C:2918,0,2423:97513219	0	0	10	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	0.5	23638.0	227	chr2	97513227	.	T	C	23638.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.435;DP=1607;ExcessHet=22.563;FS=2.554;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.25;MQRankSum=-3.798;QD=14.94;ReadPosRankSum=0.612;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,75:144:99:0|1:97513219_T_C:2942,0,2647:97513219	0	0	10	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	.	.	.	.	.	.	.	.	0.5	29141.0	257	chr2	97513244	.	G	T	29141.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.874;DP=1818;ExcessHet=22.563;FS=1.121;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.81;MQRankSum=-4.032;QD=16.06;ReadPosRankSum=0.265;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,92:168:99:0|1:97513244_G_T:3634,0,2894:97513244	0	0	10	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	31529.0	274	chr2	97513253	.	A	G	31529.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.011;DP=1915;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.66;ReadPosRankSum=-0.44;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,96:174:99:0|1:97513244_G_T:3796,0,2986:97513244	0	0	10	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	31538.0	273	chr2	97513254	.	C	T	31538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.403;DP=1919;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.69;ReadPosRankSum=-0.7;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,96:174:99:0|1:97513244_G_T:3796,0,2986:97513244	0	0	10	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	34648.0	295	chr2	97513268	.	C	T	34648.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.562;DP=2031;ExcessHet=22.563;FS=1.756;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.45;MQRankSum=-4.865;QD=17.14;ReadPosRankSum=-0.434;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,106:187:99:0|1:97513268_C_T:4166,0,3062:97513268	0	0	10	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	32483.0	301	chr2	97513270	.	A	C	32483.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.141;DP=2044;ExcessHet=22.563;FS=1.745;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.51;MQRankSum=-4.865;QD=15.9;ReadPosRankSum=-0.382;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,107:188:99:0|1:97513268_C_T:4188,0,3059:97513268	0	0	10	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	34968.0	304	chr2	97513271	.	T	C	34968.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.323;DP=2052;ExcessHet=22.563;FS=1.108;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.54;MQRankSum=-4.877;QD=17.04;ReadPosRankSum=-0.39;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,108:189:99:0|1:97513268_C_T:4223,0,3056:97513268	0	0	10	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	34754.0	295	chr2	97513281	.	C	T	34754.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.105;DP=2075;ExcessHet=22.563;FS=1.744;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.89;MQRankSum=-5.07;QD=16.85;ReadPosRankSum=-0.404;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,107:189:99:0|1:97513268_C_T:4159,0,3045:97513268	0	0	10	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	8228.04	185	chr2	97513354	.	T	C	8228.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.32;DP=1254;ExcessHet=22.563;FS=1.23;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=40.12;MQRankSum=-3.558;QD=6.78;ReadPosRankSum=0.474;SOR=0.601	GT:AD:DP:GQ:PL	0/1:71,46:117:99:993,0,1741	0	0	10	0
chr2	98396666	98396666	G	A	exonic	CNGA3	.	nonsynonymous SNV	CNGA3:NM_001079878:exon7:c.G1442A:p.R481Q,CNGA3:NM_001298:exon8:c.G1496A:p.R499Q	Achromatopsia 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1870529	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.335	0.0406430702601	.	.	2.479e-05	0	0	0.0002	0	1.503e-05	0	0	4.53e-05	7	154602	rs374938560	3.489e-05	3.489e-05	4.356e-05	2.613e-05	0.0001	2.697e-05	2.438e-05	3.348e-05	2.468e-05	2.987e-05	2.236e-05	0	0.0001	0	0	3.687e-05	6.623e-05	0	3.944e-05	3.94e-05	2.57e-05	5.382e-05	0.0002	1.716e-05	1.13e-05	2.263e-05	9.08e-06	0	0	0.0001	0	0.0002	0	0	4.409e-05	0	0	0.981	0.05881	T	0.746	0.10034	T	0.836	0.46303	P	0.122	0.32387	B	0.000025	0.55875	D	0.122332	0.902964	0.36217	D	0.56	0.15190	N	-4.05	0.96496	D	-0.66	0.20576	N	0.091	0.18649	0.498	0.90517	D	0.697	0.89561	D	10	0.10335484	0.18996	T	0.040643	0.59492	D	0.335	0.65718	.	.	0.966733096585	0.96637	0.4697112707076078	0.46890	0.117215527807	0.13211	0.404367923737	0.25676	T	0.143518	0.47967	T	-0.181609	0.23497	T	-0.234217	0.51362	T	0.0465092805393572	0.04877	T	0.940606	0.77652	D	0.13452706	0.31253	0.100444615	0.24015	0.13452706	0.31253	0.100444615	0.24015	-6.245	0.48516	T	0.12113220770668474	0.11463	0.071	0.04119	B	.;.;.;.	.;.;.;.	2.654208	0.34565	19.66	0.97832449874884198	0.36272	0.34578	0.25101	N	AEFDBI	0.238908	0.36095	N	-0.280516092849306	0.29901	1.662339	-0.170264293416072	0.32636	1.858767	0.9250300533526	0.26800	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.92	4.92	0.64147	1.345000	0.33558	5.965000	0.51894	0.671000	0.69459	0.965000	0.33920	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	17.113	0.86557	279	0.89001	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|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	.	.	.	.	.	.	.	.	0.05	1997.43	34	chr2	98396666	.	G	A	1997.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.64;DP=471;ExcessHet=0;FS=0.594;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.443;SOR=0.79	GT:AD:DP:GQ:PL	0/1:81,76:157:99:2009,0,1949	9	0	1	0
chr2	99390613	99390613	G	A	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656A:p.D886N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694	0.142793453651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.45530	T	0.793	0.44725	P	0.56	0.49558	P	.	.	.	.	1	0.81001	D	3.315	0.90654	M	-0.73	0.73100	T	-3.97	0.73684	D	0.63	0.64393	0.213	0.86132	D	0.544	0.83208	D	8	0.9126357	0.90628	D	0.142793	0.82515	D	0.694	0.88913	0.864	0.95995	0.614425270908	0.61131	0.5763173653873808	0.57560	1.7600581582	0.91115	0.812806487083	0.83922	D	0.653892	0.89531	D	0.0869895	0.62849	D	-0.112822	0.62385	T	0.973848506784709	0.70263	D	0.962504	0.86259	D	0.34774193	0.56891	0.34795704	0.60442	0.34774193	0.56891	0.34795704	0.60441	-8.071	0.61553	D	.	.	0.280	0.51332	B	.;.	.;.	5.402828	0.90465	31	0.99929077074018369	0.99279	0.99272	0.93765	D	AEFBI	0.905520	0.85714	D	0.797561309752087	0.85951	8.732649	0.800243538308844	0.89809	10.13081	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	544.3	97	chr2	99390613	.	G	A	544.3	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.313;DP=859;ExcessHet=1.5895;FS=106.986;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.22;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,17:132:99:0|1:99390613_G_A:156,0,4570:99390613	6	0	3	1
chr2	107862983	107862983	A	G	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon17:c.A2420G:p.D807G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.0127542855378	.	0.000599042	0.0025	0.0003	0.0004	0	0.0020	0.0039	0.0011	0.0009	0.0003842	10	26028	rs199738341	0.0023	0.0024	0.0023	0.0022	0.0026	0.0022	0.0022	0.0025	0.0025	0.0003	0.0003	0.0044	0	0.0020	0	0.0026	0.0018	0.0009	0.0017	0.0017	0.0018	0.0016	0.0029	0.0015	0.0014	0.0025	0.0024	0.0004	0	0.0002	0.0037	0	0.0016	0	0.0029	0.0011	0.0005	0.011	0.55530	D	0.101	0.38596	T	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.773018	0.34174	D	2.485	0.72352	M	1.84	0.24656	T	-4.09	0.74821	D	0.867	0.86404	-0.8655	0.50864	T	0.124	0.42757	T	9	0.0645794	0.08585	T	0.012754	0.31594	T	0.234	0.53644	.	.	0.166414681773	0.16258	0.05964827180540713	0.05904	.	.	0.620438694954	0.55791	T	0.086812	0.37806	T	-0.351767	0.04617	T	-0.280487	0.46755	T	0.0780681681238823	0.09738	T	0.958204	0.84269	D	0.27301252	0.50370	0.41654703	0.65735	0.27301252	0.50369	0.41654703	0.65735	-6.515	0.50402	T	.	.	0.506	0.64835	A	.	.	4.506450	0.70528	25.5	0.99647351691884289	0.77068	0.97831	0.77455	D	AEFI	0.679079	0.64323	D	0.339956790089777	0.58211	3.99214	0.209950665881782	0.50399	3.232355	7.38658492822106E-4	0.07723	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.3	2.3	0.27735	7.882000	0.85748	11.290000	0.92000	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	1.0:0.0:0.0:0.0	9.191	0.36361	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1472.43	96	chr2	107862983	.	A	G	1472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=677;ExcessHet=0;FS=2.361;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.82;MQRankSum=0.883;QD=12.48;ReadPosRankSum=1.2;SOR=0.499	GT:AD:DP:GQ:PL	0/1:57,61:118:99:1484,0,1319	9	0	1	0
chr2	109544250	109544250	-	T	exonic	SEPTIN10	.	frameshift insertion	SEPTIN10:NM_001321498:exon12:c.1506dupA:p.L503Tfs*6	.	2	221	2	1	0	4	0.00896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00319489	0.0041	0.0011	0.0052	0.0004	0.0005	0.0059	0.0023	0.0016	0.0013063	34	26028	rs545969753	0.0044	0.0089	0.0045	0.0044	0.0235	0.0043	0.0043	0.0203	0.0190	0.0015	0.0053	0.0010	0.0001	0.0010	0.0235	0.0051	0.0043	0.0010	0.0035	0.0035	0.0036	0.0034	0.0072	0.0033	0.0032	0.0061	0.0057	0.0009	0	0.0072	0.0020	0	0.0008	0.0170	0.0051	0.0072	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	771.39	35	chr2	109544250	.	G	GT	771.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.338;DP=414;ExcessHet=0;FS=3.934;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=-1.462;SOR=1.073	GT:AD:DP:GQ:PL	0/1:55,36:94:99:783,0,1303	9	0	1	0
chr2	130341033	130341033	C	T	exonic	CCDC115	.	nonsynonymous SNV	CCDC115:NM_001321118:exon4:c.G290A:p.R97Q,CCDC115:NM_001321119:exon4:c.G281A:p.R94Q,CCDC115:NM_032357:exon4:c.G305A:p.R102Q	Congenital disorder of glycosylation, type IIo, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1862397	CCDC115-CDG|not_provided	MONDO:MONDO:0014789,MedGen:C4225191,OMIM:616828,Orphanet:468684|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.330	0.24823955846	.	0.000399361	8.01e-05	0.0005	0	0	0	6.25e-05	0	0	5.82e-05	9	154602	rs537888072	2.891e-05	3.01e-05	2.874e-05	2.907e-05	0.0010	2.165e-05	1.919e-05	0.0005	0.0003	0.0003	2.319e-05	0	2.525e-05	0	0.0010	1.895e-05	3.335e-05	2.352e-05	0.0001	0.0001	8.994e-05	0.0002	0.0004	9.737e-05	8.252e-05	0.0003	0.0002	0.0004	0	0	0	0.0002	0	0	5.881e-05	0	0	0.007	0.59928	D	0.081	0.47336	T	0.996	0.77913	D	0.866	0.62698	P	0.000068	0.52346	D	0.074741	0.999893	0.19781	N	2.8	0.81625	M	-3.67	0.95247	D	-3.07	0.63207	D	0.396	0.44187	0.382	0.88832	D	0.869	0.95644	D	10	0.1814296	0.33375	T	0.24824	0.89002	D	0.330	0.65226	0.243	0.17677	0.955802236948	0.95533	0.7010738074291041	0.70048	0.924713105893	0.71596	0.595148801804	0.52219	T	0.138733	0.50677	T	-0.101865	0.36116	T	-0.0457061	0.67314	D	0.734516084194183	0.42446	D	0.779722	0.41422	T	0.22983767	0.45727	0.2245513	0.47370	0.22983767	0.45727	0.2245513	0.47369	-4.509	0.31006	T	0.660636120458552	0.73408	0.222	0.47316	B	.;.	.;.	4.268124	0.64919	24.8	0.99595810465334833	0.73866	0.53452	0.29375	D	AEFBHCI	0.150519	0.27482	N	-0.0530028953738223	0.39468	2.327985	-0.249670191344572	0.29784	1.671437	0.999964836041685	0.48965	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	3.65	2.77	0.31614	1.497000	0.35257	.	.	0.599000	0.40250	0.786000	0.29545	1.000000	0.68203	0.040000	0.14268	0.0:0.8914:0.0:0.1086	9.419	0.37700	982	0.03397	.;.	.	.	.	.	.	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	552.43	38	chr2	130341033	.	C	T	552.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.13;DP=355;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.455;SOR=0.667	GT:AD:DP:GQ:PL	0/1:35,24:59:99:564,0,738	9	0	1	0
chr2	132784614	132784614	T	C	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.A2197G:p.K733E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00361199838757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	0.08458	T	0.829	0.03728	T	0.018	0.17786	B	0.011	0.15521	B	0.431185	0.12746	U	0.624448	1	0.08975	N	1.7	0.43825	L	1.01	0.41058	T	-0.93	0.24898	N	0.082	0.08646	-1.0207	0.23486	T	0.056	0.23715	T	10	0.04424566	0.03361	T	0.003612	0.08278	T	0.019	0.03383	0.198	0.11110	0.147330786459	0.14319	0.11503444975752376	0.11431	0.0516791353722	0.05686	0.322222530842	0.13757	T	0.005166	0.04603	T	-0.191201	0.22081	T	-0.512424	0.21066	T	0.051692031441021	0.05795	T	0.622938	0.23989	T	0.103632785	0.24496	0.08225675	0.18758	0.103632785	0.24496	0.08225675	0.18758	-4.014	0.24013	T	.	.	0.101	0.17488	B	.;.	.;.	0.433077	0.08032	4.754	0.97276644908955556	0.33163	0.03937	0.09332	N	AEBI	0.057944	0.10835	N	-0.810703354843103	0.13036	0.6394501	-0.747366538738084	0.15786	0.83203	2.77513070548194E-4	0.06300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.2	2.77	0.31614	0.865000	0.27595	.	.	0.661000	0.55757	0.123000	0.23227	0.001000	0.17328	0.905000	0.44082	0.0:0.2652:0.1661:0.5687	4.311	0.10415	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	.	.	.	.	.	.	.	.	0.05	2118.43	33	chr2	132784614	.	T	C	2118.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.64;DP=946;ExcessHet=0;FS=2.031;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=1.55;SOR=0.611	GT:AD:DP:GQ:PL	0/1:76,76:152:99:2130,0,2099	9	0	1	0
chr2	134981005	134981005	G	A	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon7:c.C3397T:p.R1133W,MAP3K19:NM_001282883:exon7:c.C1132T:p.R378W,MAP3K19:NM_001018046:exon8:c.C1282T:p.R428W,MAP3K19:NM_001018047:exon8:c.C1138T:p.R380W,MAP3K19:NM_025052:exon9:c.C3736T:p.R1246W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0949986449049	7.7e-05	0.000199681	2.471e-05	9.612e-05	8.642e-05	0	0	0	0	6.058e-05	2.59e-05	4	154602	rs139473560	1.094e-05	1.094e-05	1.089e-05	1.1e-05	0.0002	6.48e-06	5.24e-06	2.995e-05	2.038e-05	0	0	0	5.038e-05	0	0.0002	6.295e-06	0	6.956e-05	1.314e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.005	0.63226	D	0.009	0.66756	D	1.0	0.90584	D	0.997	0.86255	D	0.000167	0.48594	D	0.000000	0.964637	0.81001	D	2.725	0.79712	M	-0.25	0.67011	T	-6.02	0.93582	D	0.846	0.84194	-0.3536	0.73449	T	0.404	0.75409	T	10	0.6547211	0.69806	D	0.094999	0.76351	D	0.405	0.71791	.	.	0.629031148641	0.62599	0.7568806216289024	0.75636	0.16846837862	0.18995	0.78183811903	0.79205	T	0.018115	0.14658	T	0.0118748	0.53282	T	-0.0391912	0.67757	D	0.870908677577972	0.52080	D	0.956904	0.83579	D	0.40318635	0.60952	0.2885237	0.54869	0.40318635	0.60953	0.2885237	0.54869	-9.305	0.71802	D	.	.	0.460	0.62713	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.011337	0.59175	24.1	0.99819245918301813	0.90238	0.67460	0.33441	D	AEFBCI	0.619387	0.60484	D	0.121172352352009	0.47451	2.970673	0.0330306689846875	0.41259	2.475786	3.58317855243227E-4	0.06668	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.5	0.113	0.13937	0.906000	0.28140	1.169000	0.24610	-0.193000	0.09282	0.970000	0.34288	0.988000	0.31051	0.991000	0.66497	0.1111:0.0:0.462:0.4269	9.870	0.40334	904	0.23766	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	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1576.43	35	chr2	134981005	.	G	A	1576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.35;DP=470;ExcessHet=0;FS=3.961;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.38;SOR=0.568	GT:AD:DP:GQ:PL	0/1:91,58:149:99:1588,0,2226	9	0	1	0
chr2	135862745	135862745	T	C	exonic	MCM6	.	nonsynonymous SNV	MCM6:NM_005915:exon8:c.A1082G:p.N361S	Lactase persistence/nonpersistence, Autosomal dominant	0	1506	16	0	0	16	0.00528402	.	.	.	3190530	MCM6-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.221	0.0189266988454	0.0033	0.00239617	0.0040	0.0007	0.0023	0	0.0079	0.0054	0.0077	0.0020	0.0039844	616	154602	rs141448886	0.0040	0.0040	0.0039	0.0041	0.0044	0.0039	0.0039	0.0043	0.0042	0.0006	0.0031	0.0026	2.52e-05	0.0073	0.0028	0.0044	0.0034	0.0021	0.0041	0.0041	0.0038	0.0044	0.0059	0.0039	0.0038	0.0054	0.0053	0.0007	0	0.0056	0.0017	0.0012	0.0078	0.0034	0.0059	0.0038	0.0014	0.091	0.31834	T	0.093	0.39799	T	0.399	0.34817	B	0.34	0.42389	B	0.000001	0.84330	D	0.094910	1	0.81001	D	2.075	0.57047	M	2.8	0.11082	T	-3.64	0.69835	D	0.84	0.83576	-1.0820	0.06965	T	0.026	0.11087	T	10	0.015757978	0.00331	T	0.018927	0.41149	T	0.221	0.51721	.	.	0.544542761504	0.54108	0.6342726675289722	0.63361	0.252035714824	0.27772	0.830317974091	0.86611	D	0.291595	0.66435	T	-0.486928	0.00676	T	-0.465534	0.25999	T	0.0777835342466719	0.09701	T	0.967203	0.88094	D	0.488018	0.66385	0.29138008	0.55163	0.488018	0.66385	0.29138008	0.55162	-5.056	0.37442	T	.	.	0.057	0.00514	B	.	.	4.358300	0.66997	25.0	0.99863391011260749	0.94184	0.98968	0.89315	D	AEFBI	0.852214	0.76911	D	0.254597779633626	0.53867	3.553861	0.375096730290756	0.60035	4.186656	0.999999999666595	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	7.566000	0.81367	4.945000	0.46240	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.208	0.72886	219	0.91485	MCM domain|MCM 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	0.002016	0.000000	0.002717	0.002924	0.000000	0.000000	0.003067	0.003788	0.05	1796.43	34	chr2	135862745	.	T	C	1796.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.461;DP=431;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-0.189;SOR=0.505	GT:AD:DP:GQ:PL	0/1:50,70:120:99:1808,0,1333	9	0	1	0
chr2	144011798	144011798	C	A	exonic	GTDC1	.	stopgain	GTDC1:NM_001376306:exon7:c.G538T:p.G180X,GTDC1:NM_001376317:exon7:c.G538T:p.G180X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	41.31	.	chr2	144011798	.	C	A	41.31	.	AC=2;AF=0.333;AN=6;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=20.66;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	1	0	7
chr2	157284448	157284448	G	A	exonic	GALNT5	.	nonsynonymous SNV	GALNT5:NM_014568:exon2:c.G1621A:p.D541N,GALNT5:NM_001329868:exon3:c.G211A:p.D71N	.	.	.	.	.	.	.	.	1.0000	0.988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.450	.	.	.	2.712e-05	0	0	0	0	4.924e-05	0	0	1.94e-05	3	154602	rs772769659	1.643e-05	1.642e-05	1.634e-05	1.651e-05	0.0028	1.111e-05	9.34e-06	0.0017	0.0014	0	2.24e-05	0	0	0	0.0028	4.498e-06	0	2.323e-05	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.009	0.57480	D	0.05	0.48080	T	0.837	0.46346	P	0.674	0.53247	P	0.000587	0.43095	D	0.257990	0.999992	0.58761	D	2.225	0.63025	M	-0.9	0.74896	T	-2.78	0.58896	D	0.274	0.31027	-0.2279	0.76943	T	0.399	0.75052	T	10	0.35728398	0.52447	T	0.040	0.59014	D	0.450	0.75074	0.588	0.71623	0.871000875088	0.86974	0.3940297277524325	0.39317	0.421820153893	0.42688	0.50691473484	0.39791	T	0.106674	0.41822	T	-0.171361	0.25028	T	-0.40106	0.33261	T	0.869318783283234	0.51925	D	0.931207	0.74412	D	0.40756693	0.61254	0.38591954	0.63497	0.40756693	0.61254	0.38591954	0.63497	-5.767	0.44286	T	.	.	0.094	0.14660	B	.	.	5.767844	0.93463	33	0.99918659545066757	0.98586	0.98155	0.80075	D	AEFBI	0.837517	0.75514	D	0.562372806979905	0.70838	5.560802	0.625474435867928	0.76796	6.557356	0.999999999999918	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	6.892000	0.75462	11.822000	0.97271	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.446	0.94838	574	0.70151	Glycosyltransferase 2-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	.	.	.	.	.	.	.	.	0.05	1075.43	37	chr2	157284448	.	G	A	1075.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.887;SOR=0.661	GT:AD:DP:GQ:PL	0/1:39,38:77:99:1087,0,1101	9	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	.	.	.	.	.	.	.	.	0.3889	547.15	205	chr2	157321525	.	C	G	547.15	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-3.715;DP=1784;ExcessHet=7.0302;FS=288.634;InbreedingCoeff=-0.5861;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.55;SOR=12.262	GT:AD:DP:GQ:PL	0/1:116,53:172:99:121,0,2088	2	0	7	1
chr2	159882292	159882292	G	A	exonic	LY75;LY75-CD302	.	nonsynonymous SNV	LY75-CD302:NM_001198759:exon7:c.C1078T:p.R360C,LY75-CD302:NM_001198760:exon7:c.C1078T:p.R360C,LY75:NM_002349:exon7:c.C1078T:p.R360C	.	434	1083	4	1	0	6	0.00276243	.	.	.	732858	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.151	.	0.0046	0.00379393	0.0020	0.0108	0.0010	0.0001	0.0014	0.0011	0.0011	0.0021	0.0018305	283	154602	rs35675007	0.0015	0.0015	0.0015	0.0014	0.0112	0.0014	0.0014	0.0102	0.0099	0.0112	0.0008	0.0004	5.039e-05	0.0009	0.0002	0.0013	0.0015	0.0017	0.0038	0.0039	0.0041	0.0036	0.0113	0.0036	0.0035	0.0104	0.0101	0.0113	0	0.0005	0.0003	0.0002	0.0005	0.0034	0.0014	0.0009	0.0015	0.043	0.46129	D	0.022	0.57587	D	0.999	0.77913	D	0.724	0.55036	P	0.876324	0.07207	U	1.087950	0.99998	0.18612	N	1.955	0.52871	M	3.19	0.07353	T	-3.28	0.65627	D	0.348	0.38950	-0.9996	0.30030	T	0.035	0.14987	T	10	0.013620734	0.00288	T	.	.	.	0.151	0.39764	.	.	0.262175524916	0.25828	0.720105941669809	0.71953	0.240668348398	0.26608	.	.	.	0.394918	0.75393	T	-0.465514	0.00907	T	-0.43206	0.29703	T	0.0383423806585571	0.03393	T	0.911209	0.69352	D	0.11453023	0.27037	0.07591142	0.16760	0.11453023	0.27036	0.07591142	0.16760	-7.184	0.55366	T	.	.	0.123	0.33481	B	.;.;.	.;.;.	4.563538	0.71934	25.7	0.99923817210942145	0.98917	0.61317	0.31449	D	AEFDBHCIJ	0.404397	0.47770	N	0.376496331085992	0.60149	4.200958	0.440385804239781	0.64103	4.657792	0.999971086007283	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.57	5.57	0.84021	2.617000	0.46049	8.632000	0.77857	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.985000	0.61073	0.0:0.2692:0.7308:0.0	14.219	0.65353	620	0.66037	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.010101	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1844.43	35	chr2	159882292	.	G	A	1844.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.536;DP=471;ExcessHet=0;FS=3.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=1.1;SOR=0.387	GT:AD:DP:GQ:PL	0/1:44,70:114:99:1856,0,1111	9	0	1	0
chr2	162047005	162047005	A	T	exonic	DPP4	.	nonsynonymous SNV	DPP4:NM_001379604:exon4:c.T192A:p.D64E,DPP4:NM_001379605:exon4:c.T189A:p.D63E,DPP4:NM_001379606:exon4:c.T195A:p.D65E,DPP4:NM_001935:exon4:c.T195A:p.D65E	.	508	1006	8	0	0	8	0.0039604	0.0002	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.0779797569933	.	0.000399361	0.0005	0	0	0	0	3.224e-05	0	0.0036	0.0003816	59	154602	rs200443496	0.0003	0.0003	0.0001	0.0004	0.0038	0.0003	0.0002	0.0035	0.0034	3.234e-05	0.0007	0	0	0	0.0017	2.205e-05	0.0003	0.0038	0.0005	0.0005	0.0002	0.0008	0.0036	0.0004	0.0004	0.0028	0.0026	0	0	0.0036	0	0	0	0	5.879e-05	0.0005	0.0033	0.428	0.09600	T	0.345	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	0.000004	0.62929	D	0.108531	0.656902	0.33015	D	2.125	0.59049	M	-4.55	0.97753	D	-2.27	0.50666	N	0.39	0.44090	0.279	0.87222	D	0.810	0.93586	D	10	0.014040172	0.00296	T	0.07798	0.72898	D	0.395	0.71004	0.468	0.54052	0.903976142794	0.90302	0.7722326810168741	0.77173	0.128479209888	0.14485	0.516181826591	0.41089	T	0.745203	0.92975	D	-0.208964	0.19524	T	-0.0750442	0.65264	T	0.0267940643931501	0.01515	T	0.686731	0.31637	T	0.33033878	0.55499	0.12150165	0.29316	0.33033878	0.55499	0.12150165	0.29316	-4.887	0.35589	T	.	.	0.382	0.60275	A	.;.	.;.	1.893076	0.24047	16.25	0.98428285072011756	0.41364	0.36582	0.25566	N	AEFBI	0.090964	0.18430	N	-0.360333057197436	0.26896	1.471381	-0.241347461093422	0.30071	1.689988	0.742560789817965	0.23235	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	6.04	0.676	0.17125	0.938000	0.28562	5.314000	0.48272	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.5675:0.0:0.2771:0.1554	3.651	0.07740	490	0.76723	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.005102	0.000000	0.002941	0.000000	0.000000	0.003067	0.003788	0.05	784.43	34	chr2	162047005	.	A	T	784.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.821;SOR=0.633	GT:AD:DP:GQ:PL	0/1:34,29:63:99:796,0,921	9	0	1	0
chr2	167242806	167242806	T	C	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001199144:exon7:c.T748C:p.S250P,XIRP2:NM_152381:exon9:c.T1414C:p.S472P	.	429	1045	46	2	0	50	0.0233645	.	.	.	778897	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.095	.	0.0025	0.00439297	0.0063	0.0004	0.0035	0	0.0003	0.0033	0.0134	0.0289	0.0055045	851	154602	rs143400009	0.0045	0.0045	0.0035	0.0054	0.0369	0.0044	0.0044	0.0329	0.0313	0.0010	0.0024	0.0049	5.038e-05	0.0004	0.0369	0.0029	0.0047	0.0301	0.0031	0.0031	0.0025	0.0037	0.0247	0.0029	0.0028	0.0211	0.0197	0.0006	0	0.0035	0.0063	0.0002	0.0004	0.0340	0.0034	0.0038	0.0247	0.006	0.63226	D	.	.	.	0.999	0.90584	D	0.996	0.88582	D	0.001944	0.37596	N	0.262543	0.999984	0.81001	D	2.9	0.83903	M	4.07	0.03063	T	-1.77	0.43717	N	0.354	0.42639	-1.2009	0.00143	T	0.028	0.11882	T	10	0.005220413	0.00114	T	.	.	.	0.095	0.27398	.	.	0.215869574891	0.21205	0.17762130883602176	0.17681	0.171636757321	0.19330	0.411723613739	0.26695	T	0.143441	0.47955	T	-0.449406	0.01139	T	-0.396004	0.33850	T	0.0422405308829457	0.04099	T	0.747925	0.36851	T	0.29689428	0.52624	0.4320337	0.66802	0.29689428	0.52624	0.4320337	0.66802	-2.586	0.06397	T	.	.	0.183	0.39765	B	.;.;.	.;.;.	4.240903	0.64293	24.7	0.99888557470709538	0.96281	0.95306	0.64209	D	AEFI	0.762766	0.70007	D	0.598691571459322	0.73092	5.91011	0.585353958195039	0.73888	6.044908	0.999999855070745	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	2.925000	0.48580	7.898000	0.73400	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.437	0.74881	665	0.61472	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.034743	0.015152	0.021739	0.070175	0.000000	0.034483	0.024390	0.060606	0.05	2236.43	33	chr2	167242806	.	T	C	2236.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.006;DP=526;ExcessHet=0;FS=1.036;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.465;SOR=0.764	GT:AD:DP:GQ:PL	0/1:129,96:225:99:2248,0,3483	9	0	1	0
chr2	173048607	173048607	T	C	exonic	RAPGEF4	.	nonsynonymous SNV	RAPGEF4:NM_001282901:exon24:c.T2201C:p.I734T,RAPGEF4:NM_001282900:exon26:c.T2348C:p.I783T,RAPGEF4:NM_001100397:exon27:c.T2429C:p.I810T,RAPGEF4:NM_001282899:exon27:c.T2402C:p.I801T,RAPGEF4:NM_001375872:exon27:c.T2657C:p.I886T,RAPGEF4:NM_001375873:exon27:c.T2654C:p.I885T,RAPGEF4:NM_001375867:exon28:c.T2768C:p.I923T,RAPGEF4:NM_001375869:exon28:c.T2708C:p.I903T,RAPGEF4:NM_001375871:exon28:c.T2660C:p.I887T,RAPGEF4:NM_001375866:exon29:c.T2807C:p.I936T,RAPGEF4:NM_001375868:exon29:c.T2714C:p.I905T,RAPGEF4:NM_001375864:exon30:c.T2831C:p.I944T,RAPGEF4:NM_001375865:exon30:c.T2828C:p.I943T,RAPGEF4:NM_007023:exon30:c.T2861C:p.I954T	.	.	.	.	.	.	.	.	.	.	.	2785361	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.583	0.0760909413284	.	.	8.283e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs760152592	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.005	0.72224	D	0.992	0.67487	D	0.917	0.66466	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	1.3	0.35590	T	-3.05	0.63438	D	0.959	0.97426	-0.5348	0.67360	T	0.245	0.61424	T	10	0.85795105	0.85000	D	0.076091	0.72447	D	0.583	0.83249	0.693	0.83032	0.711326786032	0.70880	0.7203565194129034	0.71978	1.08851854009	0.77370	0.858810484409	0.90935	D	0.559511	0.85230	D	0.247011	0.78320	D	0.117038	0.78039	D	0.972025036811829	0.69540	D	0.962504	0.91674	D	0.39921647	0.60678	0.3863669	0.63530	0.39921647	0.60679	0.3863669	0.63530	-9.864	0.77590	D	.	.	0.830	0.78726	P	.;.;.;.;.;.	.;.;.;.;.;.	4.894626	0.80387	27.3	0.99797642882738358	0.88283	0.94535	0.61480	D	AEFGBHCI	0.904237	0.85429	D	0.819804792554347	0.87329	9.180119	0.796872263212995	0.89574	10.03178	0.999999999999984	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.466023	0.07079	0	.	.	5.82	5.82	0.92740	6.902000	0.75519	7.870000	0.71911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.0:1.0	16.171	0.81632	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.;.;.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	42.43	41	chr2	173048607	.	T	C	42.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.754;DP=440;ExcessHet=0;FS=48.754;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.409;SOR=5.547	GT:AD:DP:GQ:PL	0/1:69,15:84:54:54,0,1498	9	0	1	0
chr2	174401031	174401031	A	G	exonic	SCRN3	.	nonsynonymous SNV	SCRN3:NM_001193528:exon4:c.A362G:p.N121S,SCRN3:NM_024583:exon4:c.A383G:p.N128S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00477297607197	.	.	8.646e-06	0	0	0	0	0	0	6.309e-05	6.5e-06	1	154602	rs764672196	8.895e-06	8.893e-06	5.447e-06	1.238e-05	0.0002	4.96e-06	3.83e-06	8.887e-05	7.054e-05	0	0	0	0	0	0	0	0	0.0002	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.083	0.40319	T	0.137	0.37449	T	0.002	0.09854	B	0.004	0.10090	B	0.018745	0.27412	N	0.458936	0.999989	0.18198	N	1	0.25136	L	2.02	0.28391	T	-1.0	0.26422	N	0.078	0.05287	-1.0339	0.19205	T	0.043	0.18659	T	10	0.08091611	0.13187	T	0.004773	0.11910	T	0.043	0.11576	0.354	0.35408	0.117506650769	0.11410	0.21891696432528143	0.21807	0.0259932616328	0.02658	0.296373307705	0.09863	T	0.016434	0.13584	T	-0.380567	0.03091	T	-0.602907	0.12568	T	0.182500556111336	0.19392	T	0.863014	0.64256	D	0.055044517	0.10644	0.050946604	0.08100	0.055044517	0.10644	0.050946604	0.08099	-4.087	0.25098	T	.	.	0.074	0.05274	B	.;.;.;.;.	.;.;.;.;.	1.648420	0.21035	15.02	0.98945118583280722	0.49016	0.36360	0.25515	N	AEFDBHI	0.149530	0.27364	N	-0.359686911296167	0.26918	1.47285	-0.212401746970585	0.31090	1.75628	0.996621075447045	0.34876	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.57	4.42	0.52775	2.238000	0.42719	-0.020000	0.12938	0.672000	0.70159	0.114000	0.23067	0.000000	0.08366	0.970000	0.54328	0.6112:0.127:0.1398:0.1221	2.527	0.04408	886	0.28090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1254.43	33	chr2	174401031	.	A	G	1254.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.117;DP=427;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.023;SOR=0.643	GT:AD:DP:GQ:PL	0/1:62,51:113:99:1266,0,1683	9	0	1	0
chr2	176169227	176169227	C	T	exonic	HOXD3	.	nonsynonymous SNV	HOXD3:NM_006898:exon3:c.C113T:p.T38M	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.125538777739	0.0020	0.00239617	0.0010	0.0069	0.0007	0.0001	0	0.0001	0	0.0018	0.0008732	135	154602	rs75250034	0.0004	0.0004	0.0004	0.0004	0.0067	0.0004	0.0004	0.0059	0.0057	0.0067	0.0007	7.652e-05	0	0	0.0002	0.0002	0.0006	0.0016	0.0021	0.0021	0.0021	0.0021	0.0069	0.0019	0.0018	0.0063	0.0060	0.0069	0	0.0012	0	0.0002	0	0.0034	0.0001	0.0005	0.0008	0.007	0.63226	D	0.017	0.60337	D	0.245	0.31074	B	0.095	0.30245	B	0.004259	0.33945	N	0.348948	0.994977	0.23401	N	1.445	0.36358	L	-2.47	0.88997	D	-2.07	0.47344	N	0.339	0.39153	-0.4773	0.69465	T	0.346	0.71083	T	10	0.008280486	0.00188	T	0.125539	0.80707	D	0.296	0.61616	.	.	0.894152575574	0.89310	0.28164369580082327	0.28077	.	.	0.364167243242	0.19991	T	0.342794	0.71152	T	-0.309033	0.07833	T	-0.213095	0.53399	T	0.0150988276773107	0.00327	T	0.822518	0.48242	T	0.061668914	0.12795	0.0852064	0.19658	0.061668914	0.12795	0.0852064	0.19657	-3.691	0.19185	T	.	.	0.119	0.26794	B	.;.;.	.;.;.	3.139192	0.42451	21.5	0.99801618769258038	0.88639	0.50390	0.28652	D	AEFBI	0.389186	0.46850	N	-0.36409199744194	0.26757	1.462778	-0.243420437521962	0.29997	1.685314	0.97045366423147	0.29209	0.646311	0.45356	0	0.59043	0.45803	0	0.563428	0.18855	0	0.699875	0.68795	0	.	.	5.32	4.43	0.52967	2.157000	0.41946	4.794000	0.44921	0.599000	0.40250	0.013000	0.18845	0.994000	0.32194	0.558000	0.30364	0.0:0.8281:0.1719:0.0	12.198	0.53618	515	0.74782	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008621	0.000000	0.003788	0.05	1394.43	42	chr2	176169227	.	C	T	1394.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.966;DP=462;ExcessHet=0;FS=1.338;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=0.575;SOR=0.616	GT:AD:DP:GQ:PL	0/1:81,61:142:99:1406,0,1908	9	0	1	0
chr2	178584459	178584459	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon139:c.C37897T:p.R12633C,TTN:NM_133432:exon140:c.C38272T:p.R12758C,TTN:NM_133437:exon140:c.C38473T:p.R12825C,TTN:NM_133378:exon260:c.C57388T:p.R19130C,TTN:NM_001256850:exon261:c.C60169T:p.R20057C,TTN:NM_001267550:exon311:c.C65092T:p.R21698C	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	1470	49	2	0	53	0.017708	.	.	.	56381	not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Cardiomyopathy|not_provided|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|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|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.360	.	0.0019	0.0129792	0.0088	0.0002	0.0022	0.0192	0.0006	0.0036	0.0089	0.0377	0.0079624	1231	154602	rs72646861	0.0045	0.0045	0.0034	0.0055	0.0352	0.0044	0.0043	0.0342	0.0338	0.0006	0.0017	0.0198	0.0151	0.0002	0.0161	0.0016	0.0064	0.0352	0.0035	0.0035	0.0030	0.0041	0.0342	0.0033	0.0032	0.0299	0.0283	0.0005	0.0044	0.0014	0.0185	0.0199	0.0005	0.0068	0.0020	0.0057	0.0342	0.053	0.78490	T	.	.	.	1.0	0.90584	D	0.984	0.76113	D	.	.	.	.	1	0.81001	D	2.68	0.78455	M	0.52	0.55266	T	-6.03	0.89722	D	0.496	0.81360	-0.4509	0.70370	T	0.239	0.60726	T	9	0.006336957	0.00143	T	.	.	.	0.360	0.68052	.	.	0.612662979051	0.60954	.	.	0.517476731111	0.49612	0.771674871445	0.77675	T	.	.	.	-0.33593	0.05674	T	-0.228856	0.51882	T	0.048045884679476	0.05151	T	0.945105	0.79487	D	.	.	.	.	.	.	.	.	-8.361	0.64785	D	.	.	0.366	0.57597	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.081587	0.60724	24.3	0.89618393577052835	0.18952	0.95943	0.66827	D	AEFDBI	0.897210	0.83913	D	0.849151916285406	0.89058	9.818826	0.840293287160525	0.92435	11.42541	0.999721983117602	0.42220	0.487112	0.14033	0	0.446627	0.06534	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	5.148000	0.64701	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.665	0.99682	416	0.81733	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014602	0.005051	0.010870	0.029240	0.050000	0.008621	0.009146	0.022727	0.05	2041.43	40	chr2	178584459	.	G	A	2041.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.44;DP=605;ExcessHet=0;FS=7.342;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-1.243;SOR=0.456	GT:AD:DP:GQ:PL	0/1:103,84:187:99:2053,0,2335	9	0	1	0
chr2	178590904	178590904	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon132:c.C33626T:p.P11209L,TTN:NM_133432:exon133:c.C34001T:p.P11334L,TTN:NM_133437:exon133:c.C34202T:p.P11401L,TTN:NM_133378:exon253:c.C53117T:p.P17706L,TTN:NM_001256850:exon254:c.C55898T:p.P18633L,TTN:NM_001267550:exon304:c.C60821T:p.P20274L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1486	34	2	0	38	0.0126246	.	.	.	56330	not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|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|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.390	.	0.0008	0.00299521	0.0038	0.0001	0.0010	0	0.0003	0.0022	0.0067	0.0174	0.0033376	516	154602	rs72646845	0.0021	0.0021	0.0016	0.0026	0.0169	0.0020	0.0020	0.0161	0.0158	0.0003	0.0009	0.0169	0	1.874e-05	0.0124	0.0008	0.0026	0.0169	0.0014	0.0014	0.0012	0.0016	0.0162	0.0012	0.0012	0.0133	0.0122	0.0001	0.0022	0.0006	0.0136	0	0.0005	0	0.0009	0.0009	0.0162	0.007	0.59928	D	.	.	.	0.997	0.70673	D	0.918	0.65394	D	.	.	.	.	1	0.81001	D	3.64	0.94097	H	0.24	0.59583	T	-6.76	0.93974	D	0.341	0.65587	0.134	0.84783	D	0.506	0.81396	D	9	0.008635849	0.00196	T	.	.	.	0.390	0.70603	.	.	0.642006589361	0.63905	.	.	0.425291972992	0.42939	0.54395455122	0.45004	T	.	.	.	-0.309934	0.07753	T	-0.203695	0.54296	T	0.100739449505409	0.12439	T	0.957404	0.86689	D	.	.	.	.	.	.	.	.	-7.325	0.56373	T	.	.	0.171	0.37615	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.500281	0.48969	22.7	0.92360516367864975	0.21763	0.97067	0.72497	D	AEFBI	0.913567	0.87572	D	0.980149752824681	0.95101	13.31065	0.936292240512815	0.96969	15.39783	0.99810308665216	0.36433	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.11	6.11	0.99132	5.528000	0.66843	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.734	0.99718	409	0.82198	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	2226.43	82	chr2	178590904	.	G	A	2226.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=544;ExcessHet=0;FS=2.081;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-1.601;SOR=0.509	GT:AD:DP:GQ:PL	0/1:68,79:147:99:2238,0,2034	9	0	1	0
chr2	178650756	178650756	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon163:c.C32402G:p.P10801R,TTN:NM_001256850:exon164:c.C35183G:p.P11728R,TTN:NM_001267550:exon209:c.C39704G:p.P13235R	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1461	59	2	0	63	0.0211055	.	.	.	56094	Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Cardiomyopathy|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.104	.	0.0027	0.0393371	0.0306	0.0011	0.0060	0.1733	0.0345	0.0093	0.0292	0.0519	0.0160865	2487	154602	rs72650066	0.0092	0.0093	0.0082	0.0102	0.1324	0.0091	0.0090	0.1294	0.1281	0.0010	0.0021	0.0204	0.1324	0.0248	0.0181	0.0019	0.0140	0.0379	0.0096	0.0096	0.0080	0.0112	0.1243	0.0092	0.0090	0.1164	0.1132	0.0013	0.0044	0.0020	0.0196	0.1243	0.0241	0.0068	0.0029	0.0104	0.0377	0.22	0.30515	T	.	.	.	0.01	0.15535	B	0.01	0.14941	B	.	.	.	.	0.999584	0.38299	P	1.935	0.51832	L	-0.03	0.64630	T	-2.03	0.75297	N	0.088	0.14622	-1.0863	0.06173	T	0.001	0.00287	T	8	0.003309399	0.00057	T	.	.	.	0.104	0.29647	.	.	.	.	.	.	0.0905780317128	0.10218	0.281594097614	0.07715	T	.	.	.	-0.518947	0.00446	T	-0.388388	0.34741	T	0.00381521306306221	0.00040	T	0.206579	0.08622	T	.	.	.	.	.	.	.	.	-8.184	0.64469	D	.	.	0.096	0.28807	B	.;.;.;.;.	.;.;.;.;.	2.490476	0.32130	18.95	0.90375552909682755	0.19638	0.34615	0.25109	N	AEFDBI	0.164300	0.29068	N	-0.915212809601297	0.10486	0.5013117	-0.84299206343616	0.13457	0.6981461	0.232525281216098	0.18481	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.91	3.08	0.34576	2.103000	0.41430	.	.	-0.110000	0.15115	0.095000	0.22689	1.000000	0.68203	0.149000	0.20271	0.0:0.1349:0.7247:0.1404	11.644	0.50508	441	0.80015	.;.;.;.;.	.	.	.	.	.	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	1	0	0.016633	0.005051	0.012228	0.032164	0.050000	0.008772	0.018293	0.022727	0.05	730.43	34	chr2	178650756	.	G	C	730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=394;ExcessHet=0;FS=5.794;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-0.27;SOR=1.352	GT:AD:DP:GQ:PL	0/1:50,33:83:99:742,0,1157	9	0	1	0
chr2	178720530	178720530	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon77:c.C19500G:p.N6500K,TTN:NM_001256850:exon78:c.C22281G:p.N7427K,TTN:NM_001267550:exon80:c.C23232G:p.N7744K	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1481	39	2	0	43	0.0143095	.	.	.	55880	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Hypertrophic_cardiomyopathy|not_provided|Cardiomyopathy|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|not_specified	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.136	.	0.0015	0.00499201	0.0044	0.0006	0.0017	0.0006	0.0006	0.0025	0.0056	0.0193	0.0038809	600	154602	rs72648972	0.0026	0.0026	0.0021	0.0031	0.0183	0.0025	0.0025	0.0176	0.0173	0.0007	0.0013	0.0100	0.0006	0.0002	0.0146	0.0014	0.0033	0.0183	0.0020	0.0020	0.0017	0.0022	0.0164	0.0018	0.0017	0.0135	0.0124	0.0007	0.0044	0.0012	0.0095	0.0008	0.0005	0.0068	0.0017	0.0038	0.0164	0.654	0.04786	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	-0.19	0.65931	T	-1.1	0.28497	N	0.174	0.18649	-0.8718	0.50394	T	0.169	0.50971	T	9	0.005209595	0.00113	T	.	.	.	0.136	0.36778	0.595	0.72494	0.225215365344	0.22153	.	.	0.0961944766766	0.10857	0.519476056099	0.41553	T	.	.	.	-0.545903	0.00309	T	-0.541992	0.18101	T	0.0120060827115781	0.00189	T	0.591241	0.24205	T	.	.	.	.	.	.	.	.	-5.632	0.43084	T	.	.	0.439	0.61659	A	.;.;.;.	.;.;.;.	2.241784	0.28630	17.86	0.98043619275058436	0.37812	0.90945	0.52560	D	AEFBI	0.605447	0.59616	D	-0.128499880588375	0.36155	2.086049	0.044252851231667	0.41794	2.516947	0.237914839984263	0.18539	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	4.88	0.63131	1.595000	0.36318	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1445:0.0:0.8555:0.0	10.796	0.45663	343	0.85802	.;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	.	.	.	.	.	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	1	0	0.013092	0.010101	0.008152	0.029240	0.050000	0.008621	0.006098	0.015152	0.05	1049.43	47	chr2	178720530	.	G	C	1049.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.311;DP=434;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.553;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,39:73:99:0|1:178720530_G_C:1061,0,895:178720530	9	0	1	0
chr2	178724331	178724331	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon69:c.C17312T:p.A5771V,TTN:NM_001256850:exon70:c.C20093T:p.A6698V,TTN:NM_001267550:exon72:c.C21044T:p.A7015V	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	1469	50	2	0	54	0.0180481	.	.	.	55845	Cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.243	.	0.0026	0.0357428	0.0165	0.0012	0.0025	0.1206	0.0234	0.0040	0.0201	0.0283	0.0150904	2333	154602	rs72648960	0.0081	0.0081	0.0075	0.0088	0.1315	0.0080	0.0080	0.1285	0.1273	0.0011	0.0015	0.0107	0.1315	0.0249	0.0165	0.0016	0.0128	0.0263	0.0089	0.0089	0.0075	0.0104	0.1238	0.0085	0.0084	0.1159	0.1127	0.0017	0.0044	0.0019	0.0109	0.1238	0.0243	0.0034	0.0025	0.0104	0.0257	0.074	0.34621	T	.	.	.	0.096	0.25489	B	0.089	0.29769	B	.	.	.	.	1	0.81001	D	.	.	.	-0.33	0.68329	T	-2.43	0.53258	N	0.144	0.19861	-1.1269	0.01936	T	0.002	0.00738	T	9	0.0019120276	0.00026	T	.	.	.	0.243	0.54921	.	.	.	.	.	.	0.103848864121	0.11752	0.359437406063	0.19304	T	.	.	.	-0.453742	0.01073	T	-0.294725	0.45280	T	0.0290006924244436	0.01838	T	0.756924	0.39714	T	.	.	.	.	.	.	.	.	-5.853	0.45033	T	.	.	0.121	0.25265	B	.;.;.;.	.;.;.;.	3.504248	0.49039	22.7	0.96988817785172754	0.31892	0.91942	0.54598	D	AEFBI	0.709002	0.66323	D	0.0698934415565155	0.45062	2.769151	0.266236103342934	0.53580	3.526084	0.999691923627461	0.41870	0.553676	0.25195	0	0.588015	0.36545	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	0.757000	0.26098	.	.	0.676000	0.76740	0.946000	0.32893	1.000000	0.68203	0.990000	0.65344	0.0:0.168:0.832:0.0	16.243	0.82250	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014099	0.005051	0.009511	0.029240	0.000000	0.008621	0.012195	0.015152	0.05	2015.43	35	chr2	178724331	.	G	A	2015.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.472;DP=503;ExcessHet=0;FS=6.95;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.515;SOR=1.223	GT:AD:DP:GQ:PL	0/1:82,77:159:99:2027,0,2177	9	0	1	0
chr2	178733463	178733467	GGATC	-	exonic	TTN	.	frameshift deletion	TTN:NM_133378:exon51:c.12094_12098del:p.D4032Rfs*28,TTN:NM_001256850:exon52:c.14875_14879del:p.D4959Rfs*28,TTN:NM_001267550:exon54:c.15826_15830del:p.D5276Rfs*28	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1520	1	0	1	2	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2333.39	36	chr2	178733462	.	GGGATC	G	2333.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.26;DP=556;ExcessHet=0;FS=0.593;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=2.15;SOR=0.61	GT:AD:DP:GQ:PL	0/1:100,63:163:99:2345,0,3988	9	0	1	0
chr2	178739264	178739264	T	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.A12880C:p.N4294H,TTN:NM_001256850:exon46:c.A13018C:p.N4340H,TTN:NM_133432:exon46:c.A13255C:p.N4419H,TTN:NM_133437:exon46:c.A13456C:p.N4486H,TTN:NM_001267550:exon48:c.A13969C:p.N4657H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1494	26	2	0	30	0.00994036	.	.	.	57007	not_provided|Cardiomyopathy|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Hypertrophic_cardiomyopathy|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.220	.	0.0004	0.00299521	0.0032	0.0001	0.0007	0	0.0003	0.0010	0.0047	0.0215	0.0027037	418	154602	rs200204761	0.0016	0.0016	0.0011	0.0021	0.0170	0.0015	0.0015	0.0163	0.0160	0.0001	0.0003	0.0009	0	1.877e-05	0.0056	0.0006	0.0014	0.0170	0.0009	0.0009	0.0006	0.0012	0.0157	0.0008	0.0007	0.0129	0.0118	9.619e-05	0.0022	0.0004	0.0003	0	0.0005	0	0.0006	0.0005	0.0157	0.057	0.37966	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.32	0.68181	T	-2.75	0.59545	D	0.21	0.26596	-0.6240	0.63823	T	0.343	0.70810	T	9	0.006801218	0.00154	T	.	.	.	0.220	0.51569	.	.	0.270889551736	0.26708	.	.	0.274007894521	0.29900	0.436665117741	0.30122	T	.	.	.	-0.467338	0.00883	T	-0.429795	0.29959	T	0.0708919177915308	0.08775	T	0.825317	0.48765	T	.	.	.	.	.	.	.	.	-4.865	0.38921	T	.	.	0.134	0.29144	B	.;.;.;.;.;.	.;.;.;.;.;.	2.438841	0.31384	18.73	0.86150515702998354	0.16346	0.94212	0.60454	D	AEFBI	0.756918	0.69603	D	0.28800681486862	0.55541	3.718025	0.300404765963867	0.55564	3.719286	0.987392401672458	0.31255	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	3.17	0.35510	3.450000	0.52720	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.2504:0.0:0.7496	7.722	0.27901	341	0.85936	.;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	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.005848	0.050000	0.008621	0.000000	0.011364	0.05	2900.43	33	chr2	178739264	.	T	G	2900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.378;DP=513;ExcessHet=0;FS=5.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.159;SOR=0.631	GT:AD:DP:GQ:PL	0/1:97,110:207:99:2912,0,2595	9	0	1	0
chr2	185800057	185800057	C	T	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.C10751T:p.A3584V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0261195452301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.626e-06	3.42e-06	2.864e-06	4.408e-06	0.0002	1.06e-06	7.7e-07	8.7e-07	5.9e-07	0	0	0	0	0	0.0002	3.72e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.01	0.65728	D	.	.	.	.	.	.	0.026824	0.25855	N	0.338341	1	0.08975	N	0	0.06538	N	0.83	0.47815	T	-2.22	0.49846	N	0.101	0.08366	-0.9530	0.40450	T	0.093	0.35255	T	8	0.15389061	0.29039	T	0.02612	0.49051	D	0.136	0.36778	.	.	0.409665357357	0.40584	0.06729686959874208	0.06667	.	.	0.381960868835	0.22535	T	0.015303	0.12863	T	-0.259675	0.12938	T	-0.610781	0.11922	T	0.310758966157264	0.25445	T	0.369963	0.08710	T	0.079349	0.18121	0.10385223	0.24928	0.079349	0.18121	0.10385223	0.24927	-3.463	0.15917	T	.	.	0.130	0.27821	B	.	.	0.884311	0.12578	9.104	0.98795213497218126	0.46365	0.10192	0.15766	N	AEFI	0.140071	0.26187	N	-0.319253656483677	0.28417	1.567214	-0.333297571006286	0.27030	1.497095	0.0171456956681758	0.12917	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	5.19	0.71428	2.002000	0.40454	1.012000	0.23339	-0.176000	0.10722	0.016000	0.19238	0.009000	0.19889	0.146000	0.20164	0.0:1.0:0.0:0.0	14.087	0.64490	731	0.54177	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	583.43	69	chr2	185800057	.	C	T	583.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.987;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=0.804;SOR=0.732	GT:AD:DP:GQ:PL	0/1:42,28:70:99:595,0,1125	9	0	1	0
chr2	185804598	185804598	A	G	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.A15292G:p.I5098V	.	435	1058	27	2	0	31	0.0144388	.	.	.	3210115	FSIP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.011	.	.	0.00658946	0.0162	0	0.0053	0	0.0013	0.0026	0.0269	0.0287	0.0023221	359	154602	rs116029352	0.0052	0.0049	0.0044	0.0059	0.0277	0.0051	0.0050	0.0267	0.0263	0.0005	0.0023	0.0006	2.802e-05	0.0024	0.0070	0.0041	0.0050	0.0277	0.0037	0.0037	0.0034	0.0040	0.0301	0.0035	0.0034	0.0261	0.0246	0.0010	0	0.0013	0.0012	0.0002	0.0021	0.0136	0.0047	0.0043	0.0301	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.1	0.00987	N	1.1	0.39050	T	0.18	0.05035	N	0.012	0.00125	-0.9963	0.30946	T	0.026	0.11043	T	7	0.0035538077	0.00064	T	.	.	.	0.011	0.01250	.	.	.	.	0.030669484624268203	0.03015	.	.	0.262273460627	0.05164	T	0.001205	0.00701	T	-0.727779	0.00025	T	-0.797908	0.01955	T	0.00868098556356589	0.00107	T	0.328467	0.06836	T	0.020307582	0.00585	0.041548263	0.04748	0.020307582	0.00584	0.041548263	0.04748	-4.119	0.25569	T	.	.	0.068	0.02861	B	.	.	-1.214428	0.00516	0.012	0.39593560357966201	0.02741	0.00227	0.01275	N	AEFI	.	.	.	-1.67149918017404	0.00948	0.04105339	-1.71557173476285	0.01070	0.0480477	8.30265016546679E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	-3.6	0.04277	-0.099000	0.10976	-0.220000	0.10772	-1.500000	0.01031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1283:0.1287:0.743:0.0	12.856	0.57271	735	0.53711	Fibrous sheath-interacting protein 2, C-terminal|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	1	0	1	0	0.002577	0.000000	0.007246	0.000000	0.000000	0.000000	0.005682	0.000000	0.1	5246.12	95	chr2	185804598	.	A	G	5246.12	.	AC=2;AF=0.1;AN=20;DP=847;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.5;SOR=0.894	GT:AD:DP:GQ:PL	1/1:0,172:172:99:5269,516,0	9	1	0	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	.	.	.	.	.	.	.	.	0.1875	443.45	47	chr2	186504215	.	G	C	443.45	.	AC=3;AF=0.188;AN=16;BaseQRankSum=1.62;DP=389;ExcessHet=10.4813;FS=166.33;InbreedingCoeff=-0.578;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.57;SOR=8.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,11:44:3:.:.:22,0,680:.	5	0	3	2
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	.	.	.	.	.	.	.	.	0.4286	1527.34	112	chr2	197523648	.	T	C	1527.34	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.265;DP=605;ExcessHet=4.5998;FS=381.692;InbreedingCoeff=-0.601;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.23;ReadPosRankSum=1.14;SOR=10.505	GT:AD:DP:GQ:PL	0/1:52,34:86:99:308,0,660	1	0	6	3
chr2	209694038	209694038	G	T	exonic	MAP2	.	nonsynonymous SNV	MAP2:NM_001375551:exon4:c.G1394T:p.G465V,MAP2:NM_001375555:exon4:c.G1394T:p.G465V,MAP2:NM_001375556:exon4:c.G1394T:p.G465V,MAP2:NM_001375557:exon4:c.G1394T:p.G465V,MAP2:NM_001375558:exon4:c.G1394T:p.G465V,MAP2:NM_001375559:exon4:c.G1394T:p.G465V,MAP2:NM_001375552:exon5:c.G1394T:p.G465V,MAP2:NM_001363911:exon7:c.G1856T:p.G619V,MAP2:NM_001375502:exon7:c.G1865T:p.G622V,MAP2:NM_001375526:exon7:c.G1868T:p.G623V,MAP2:NM_001375527:exon7:c.G1868T:p.G623V,MAP2:NM_001375528:exon7:c.G1856T:p.G619V,MAP2:NM_001375543:exon7:c.G1868T:p.G623V,MAP2:NM_001375544:exon7:c.G1865T:p.G622V,MAP2:NM_001375545:exon7:c.G1856T:p.G619V,MAP2:NM_001375546:exon7:c.G1856T:p.G619V,MAP2:NM_001375548:exon7:c.G1853T:p.G618V,MAP2:NM_002374:exon7:c.G1868T:p.G623V,MAP2:NM_001363910:exon8:c.G1856T:p.G619V,MAP2:NM_001375500:exon8:c.G1856T:p.G619V,MAP2:NM_001375504:exon8:c.G1868T:p.G623V,MAP2:NM_001375505:exon8:c.G1868T:p.G623V,MAP2:NM_001375506:exon8:c.G1868T:p.G623V,MAP2:NM_001375507:exon8:c.G1856T:p.G619V,MAP2:NM_001375531:exon8:c.G2114T:p.G705V,MAP2:NM_001375534:exon8:c.G1868T:p.G623V,MAP2:NM_001375537:exon8:c.G2114T:p.G705V,MAP2:NM_001375539:exon8:c.G2102T:p.G701V,MAP2:NM_001375501:exon9:c.G2114T:p.G705V,MAP2:NM_001375503:exon9:c.G2099T:p.G700V	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00486023482623	.	.	2.487e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs763698477	2.532e-05	2.531e-05	1.089e-05	3.989e-05	0.0004	1.868e-05	1.631e-05	0.0003	0.0003	0	0	0	0	0	0.0002	8.994e-07	1.656e-05	0.0004	6.574e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.01	0.56456	D	0.02	0.59732	D	0.096	0.25489	B	0.129	0.32841	B	0.126312	0.18809	N	0.492746	0.99998	0.18612	N	1.61	0.41143	L	2.23	0.18083	T	-0.37	0.13226	N	0.204	0.26475	-1.0174	0.24560	T	0.028	0.12014	T	10	0.055646032	0.06116	T	0.00486	0.12192	T	0.015	0.02232	0.284	0.24121	0.082315109003	0.07666	0.1022696923245184	0.10156	0.290609201373	0.31466	0.218146279454	0.01205	T	0.171658	0.51986	T	-0.472467	0.00820	T	-0.600286	0.12788	T	0.035590214267082	0.02910	T	0.751925	0.37414	T	0.08294113	0.19129	0.072399646	0.15614	0.08294113	0.19129	0.072399646	0.15613	-2.794	0.08128	T	.	.	0.099	0.16800	B	.;.	.;.	0.574782	0.09432	6.212	0.807568230494216	0.13354	0.09042	0.14875	N	AEFBI	0.146872	0.27043	N	-1.12616942235507	0.06181	0.2838463	-1.17844492744521	0.06272	0.3013344	0.0245173068141558	0.13584	0.615465	0.37627	0	0.547309	0.14657	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.55	-1.8	0.07480	0.079000	0.14636	-0.787000	0.07430	-0.185000	0.09859	0.012000	0.18695	0.000000	0.08366	0.579000	0.30870	0.5552:0.1158:0.329:0.0	8.123	0.30144	824	0.40336	MAP2/Tau projection;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2079.43	33	chr2	209694038	.	G	T	2079.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.943;DP=643;ExcessHet=0;FS=11.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.19;SOR=0.903	GT:AD:DP:GQ:PL	0/1:83,88:171:99:2091,0,2170	9	0	1	0
chr2	214934127	214934127	G	A	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon44:c.C6677T:p.T2226I,ABCA12:NM_173076:exon52:c.C7631T:p.T2544I	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	1	1516	4	1	0	6	0.00197498	.	.	.	719581	Autosomal_recessive_congenital_ichthyosis_4B|ABCA12-related_disorder|not_provided|Inborn_genetic_diseases|Congenital_ichthyosis_of_skin	MONDO:MONDO:0009443,MedGen:C0598226,OMIM:242500,Orphanet:457|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:C0020758	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.352	0.0377526259987	0.0020	0.00119808	0.0014	0.0003	0.0013	0	0.0002	0.0021	0	0.0007	0.0015006	232	154602	rs146834697	0.0024	0.0024	0.0024	0.0023	0.0056	0.0023	0.0023	0.0040	0.0035	0.0004	0.0019	0.0003	0	0.0001	0.0056	0.0028	0.0024	0.0005	0.0014	0.0014	0.0015	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0004	0	0.0022	0.0003	0	9.423e-05	0.0034	0.0024	0.0014	0.0004	0.039	0.43393	D	0.035	0.52389	D	0.228	0.37483	B	0.14	0.46509	B	0.136249	0.18453	N	0.555420	0.63487	0.30667	N	1.425	0.35738	L	-1.72	0.83241	D	-3.12	0.63782	D	0.242	0.27316	-0.0097	0.82056	T	0.542	0.83146	D	10	0.015284419	0.00321	T	0.037753	0.57812	D	0.352	0.67326	.	.	0.701912758934	0.69933	0.3462876169233124	0.34542	0.197728138392	0.22142	0.46284943819	0.33701	T	0.483917	0.81145	T	-0.285099	0.10135	T	-0.185352	0.56023	T	0.0475143686642646	0.05056	T	0.592041	0.21827	T	0.11353767	0.26813	0.14413582	0.34231	0.10964388	0.25920	0.14422622	0.34248	-5.057	0.37452	T	0.3099596069436688	0.40780	0.088	0.17317	B	.;.	.;.	2.750442	0.36054	20.1	0.99847061573211404	0.92663	0.33027	0.24728	N	AEFDIJ	0.139222	0.26075	N	0.0506207718956736	0.44171	2.696058	0.124801669836326	0.45821	2.838526	0.0122582802688855	0.12301	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	0.920000	0.28325	8.686000	0.78060	0.676000	0.76740	0.065000	0.21925	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8505:0.1495	14.268	0.65682	869	0.31655	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.017544	0.000000	0.000000	0.000000	0.011364	0.05	1036.43	33	chr2	214934127	.	G	A	1036.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.541;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.317;SOR=0.737	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1048,0,992	9	0	1	0
chr2	219176241	219176241	G	A	exonic	CNPPD1	.	nonsynonymous SNV	CNPPD1:NM_015680:exon2:c.C160T:p.L54F,CNPPD1:NM_001321389:exon3:c.C160T:p.L54F,CNPPD1:NM_001321390:exon3:c.C160T:p.L54F,CNPPD1:NM_001321391:exon3:c.C160T:p.L54F	.	425	1082	15	0	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.00855376499618	0.0013	0.000798722	0.0021	0.0002	0.0019	0	0.0002	0.0024	0	0.0041	0.0019469	301	154602	rs145875060	0.0024	0.0024	0.0023	0.0024	0.0064	0.0023	0.0023	0.0048	0.0042	0.0003	0.0016	0.0012	2.519e-05	0.0001	0.0064	0.0025	0.0025	0.0046	0.0014	0.0014	0.0014	0.0014	0.0031	0.0012	0.0012	0.0019	0.0018	0.0003	0	0.0020	0.0003	0	9.418e-05	0	0.0022	0.0014	0.0031	0.012	0.54683	D	0.028	0.54934	D	0.996	0.68779	D	0.903	0.64103	P	0.000039	0.55875	D	0.069246	0.99999	0.58761	D	0.55	0.14455	N	2.02	0.38718	T	-2.67	0.58248	D	0.549	0.57518	-0.9042	0.47538	T	0.149	0.47522	T	10	0.009566277	0.00216	T	0.008554	0.22606	T	0.236	0.53931	.	.	0.544173085412	0.54071	0.6818977107941196	0.68128	0.348366032642	0.36710	0.644619524479	0.59221	T	0.047822	0.27835	T	-0.369626	0.03613	T	-0.303589	0.44343	T	0.0278126070352077	0.01661	T	0.828317	0.50011	T	0.33431113	0.55822	0.27204925	0.53111	0.33431113	0.55822	0.27204925	0.53110	-7.887	0.60298	D	.	.	0.428	0.66949	A	.;.;.;.	.;.;.;.	5.209321	0.87404	29.2	0.99385622953549668	0.62113	0.87211	0.46682	D	ALL	0.373760	0.45891	N	0.542597589080877	0.69632	5.384708	0.546065157079519	0.71123	5.60727	0.99999999996518	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.657601	0.63696	0	.	.	4.54	4.54	0.55220	4.360000	0.59229	9.674000	0.81227	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0841:0.0:0.9159:0.0	11.349	0.48816	489	0.76795	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.006793	0.002924	0.000000	0.008621	0.003049	0.011364	0.05	1868.43	33	chr2	219176241	.	G	A	1868.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.376;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.556;SOR=0.65	GT:AD:DP:GQ:PL	0/1:66,79:145:99:1880,0,1523	9	0	1	0
chr2	219575105	219575105	G	A	exonic	INHA	.	nonsynonymous SNV	INHA:NM_002191:exon2:c.G680A:p.G227E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.120905418511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.181	0.29346	T	0.666	0.41077	P	0.186	0.36104	B	0.041686	0.23922	N	0.394385	0.969011	0.25774	N	2.34	0.67151	M	-1.88	0.84487	D	-0.55	0.16799	N	0.152	0.15609	-0.3880	0.72404	T	0.464	0.79246	T	9	0.1768947	0.32697	T	0.120905	0.80155	D	0.271	0.58633	0.249	0.18602	0.9138772253	0.91301	0.4913017464178028	0.49051	0.270469494998	0.29572	0.454921662807	0.32616	T	0.236796	0.60435	T	-0.0578479	0.43243	T	-0.320871	0.42479	T	0.347023874521255	0.26901	T	0.618638	0.23716	T	0.065061	0.13868	0.09559627	0.22678	0.065061	0.13867	0.09559627	0.22678	-4.345	0.28802	T	.	.	0.11	0.21201	B	.	.	2.152584	0.27418	17.46	0.98488532516641825	0.42061	0.19082	0.20520	N	AEFBI	0.119796	0.23366	N	-0.0864170146700916	0.37988	2.218151	-0.0921281576883749	0.35713	2.069544	0.999212996921055	0.38775	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.48	3.49	0.39065	0.350000	0.19818	6.493000	0.55764	0.676000	0.76740	0.003000	0.16062	1.000000	0.68203	0.997000	0.79791	0.1838:0.2811:0.5351:0.0	5.738	0.17347	120	0.95183	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3098.43	43	chr2	219575105	.	G	A	3098.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.229;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.122;SOR=0.681	GT:AD:DP:GQ:PL	0/1:87,115:202:99:3110,0,2260	9	0	1	0
chr2	219609402	219609402	C	T	exonic	STK11IP	.	nonsynonymous SNV	STK11IP:NM_052902:exon17:c.C1966T:p.R656W	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0103774389607	0.0003	0.00139776	0.0010	0	0.0008	0	0	0.0006	0	0.0042	0.0008667	134	154602	rs138178069	0.0006	0.0006	0.0005	0.0007	0.0078	0.0006	0.0006	0.0060	0.0054	0.0003	0.0010	0.0013	2.519e-05	3.757e-05	0.0078	0.0003	0.0011	0.0036	0.0006	0.0006	0.0005	0.0007	0.0035	0.0005	0.0004	0.0022	0.0018	0.0001	0	0.0012	0.0003	0	0	0.0068	0.0007	0.0005	0.0035	0.01	0.56456	D	0.001	0.83351	D	.	.	.	.	.	.	0.368670	0.04349	N	1.472120	1	0.08975	N	.	.	.	3.42	0.05507	T	-2.35	0.51968	N	0.113	0.10056	-0.9723	0.36712	T	0.019	0.07800	T	10	0.004674673	0.00098	T	0.010377	0.26850	T	0.088	0.25558	.	.	0.168933306366	0.16529	0.3942372021576567	0.39338	.	.	0.252693235874	0.04056	T	.	.	.	-0.592208	0.00162	T	-0.624598	0.10828	T	0.0268030799867487	0.01516	T	0.59464	0.22023	T	0.06531138	0.13945	0.0512048	0.08193	0.06531138	0.13945	0.0512048	0.08192	-7.106	0.54804	T	.	.	0.093	0.14201	B	.	.	2.465700	0.31770	18.84	0.99702856217893709	0.80729	0.02454	0.06901	N	AEFDBI	0.071413	0.14215	N	-0.483937549412463	0.22607	1.208	-0.642197718217624	0.18413	0.9835654	0.953359575416739	0.28069	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.1	0.72	0.17368	-0.187000	0.09652	1.423000	0.26381	0.599000	0.40250	0.000000	0.06391	0.005000	0.19230	0.010000	0.09038	0.3339:0.3531:0.313:0.0	6.992	0.23940	147	0.94143	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004541	0.005051	0.010870	0.000000	0.000000	0.000000	0.000000	0.003817	0.1	2642.14	88	chr2	219609402	.	C	T	2642.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.559;DP=469;ExcessHet=0.2348;FS=1.153;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=2.89;SOR=0.589	GT:AD:DP:GQ:PL	0/1:42,57:99:99:1552,0,1014	8	0	2	0
chr2	230172902	230172902	C	T	exonic	SP110	.	nonsynonymous SNV	SP110:NM_001378443:exon15:c.G1648A:p.G550S,SP110:NM_004509:exon15:c.G1648A:p.G550S,SP110:NM_080424:exon15:c.G1648A:p.G550S,SP110:NM_001378442:exon16:c.G1666A:p.G556S,SP110:NM_001378444:exon16:c.G1666A:p.G556S,SP110:NM_001378445:exon16:c.G1666A:p.G556S,SP110:NM_001378446:exon16:c.G1666A:p.G556S	Hepatic venoocclusive disease with immunodeficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0274627462352	.	.	5.769e-05	0	0	0.0001	0	7.495e-05	0	6.058e-05	4.53e-05	7	154602	rs773059144	2.394e-05	2.394e-05	2.178e-05	2.613e-05	6.956e-05	1.738e-05	1.539e-05	2.995e-05	2.038e-05	0	0	0	0	0	0	2.518e-05	1.656e-05	6.956e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.031	0.45039	D	0.027	0.55341	D	0.259	0.31472	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	0.49	0.13296	N	-2.17	0.86624	D	0.52	0.03297	N	0.244	0.27554	-0.5989	0.64862	T	0.387	0.74231	T	9	0.14274213	0.27109	T	0.027463	0.50267	D	0.113	0.31778	.	.	0.664442808903	0.66162	0.37521207737349355	0.37435	0.563213150992	0.52764	0.254525542259	0.04259	T	0.006412	0.05843	T	-0.205596	0.20004	T	-0.351573	0.39025	T	0.0864906374501622	0.10796	T	0.665633	0.51512	T	0.0321454	0.03184	0.047662813	0.06916	0.0321454	0.03184	0.047662813	0.06915	-5.44	0.43667	T	.	.	0.105	0.20857	B	.;.	.;.	0.732302	0.11018	7.673	0.96238454844528809	0.29141	0.06589	0.12604	N	AEFDBCI	0.051894	0.09212	N	-0.806875791587629	0.13134	0.6449134	-0.854664805022837	0.13176	0.6820796	0.0783519833773028	0.15786	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	3.55	2.66	0.30672	0.044000	0.13876	-2.075000	0.04251	-0.280000	0.06433	0.005000	0.17040	0.000000	0.08366	0.036000	0.13842	0.0:0.8692:0.0:0.1308	7.275	0.25451	929	0.16858	.;Zinc finger, PHD-type, conserved site|Zinc finger, PHD-finger|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1699.43	36	chr2	230172902	.	C	T	1699.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.95;DP=487;ExcessHet=0;FS=1.284;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=2.71;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,67:151:99:1|0:230172900_A_G:1711,0,3295:230172900	9	0	1	0
chr2	232380881	232380881	C	G	exonic	ALPP	.	nonsynonymous SNV	ALPP:NM_001632:exon9:c.C1042G:p.R348G	.	443	1072	6	0	1	7	0.0027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	.	.	0.013778	0.0120	0.0135	0	0.0394	0	0	0.0088	0.0332	0.0030352	79	26028	rs377376739	0.0016	0.0017	0.0013	0.0018	0.0186	0.0015	0.0015	0.0175	0.0170	0.0074	0.0006	0	0.0186	0	0.0002	2.64e-05	0.0022	0.0130	0.0033	0.0039	0.0033	0.0034	0.0183	0.0031	0.0030	0.0153	0.0142	0.0079	0	0.0013	0	0.0183	0	0	4.431e-05	0.0010	0.0138	0.371	0.11514	T	0.336	0.18232	T	0.982	0.60036	D	0.847	0.60522	P	0.440416	0.04757	N	1.404110	1	0.08975	N	1.05	0.26816	L	-3.97	0.96243	D	-2.84	0.59873	D	0.233	0.26233	0.315	0.87793	D	0.828	0.94214	D	10	0.015185952	0.00319	T	.	.	.	0.318	0.64008	.	.	0.962777890143	0.96238	0.6777074741986587	0.67709	3.27526946253	0.99552	0.270977705717	0.06268	T	0.518579	0.83121	D	-0.318631	0.07011	T	-0.214212	0.53292	T	0.0336998166081626	0.02588	T	0.0440956	0.00310	T	0.50394845	0.67326	0.27589935	0.53530	0.50394845	0.67327	0.27589935	0.53529	-8.375	0.63599	D	.	.	0.226	0.45786	B	.	.	1.337130	0.17432	13.16	0.84659003932573551	0.15421	0.22095	0.21629	N	AEFGI	0.451564	0.50549	N	-0.629267103873481	0.18069	0.9351381	-0.864791235835389	0.12932	0.6681146	0.00504474497912267	0.10808	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.2	-2.01	0.07003	-0.273000	0.08580	-15.109000	0.00371	0.331000	0.19555	0.000000	0.06391	0.000000	0.08366	0.800000	0.37734	0.4302:0.4772:0.0:0.0925	6.636	0.22075	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001107	0.000000	0.002778	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	345.43	42	chr2	232380881	.	C	G	345.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.11;DP=440;ExcessHet=0;FS=10.753;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=27.16;MQRankSum=-0.773;QD=4.32;ReadPosRankSum=2.11;SOR=0.044	GT:AD:DP:GQ:PL	0/1:61,19:80:99:357,0,1670	9	0	1	0
chr2	237577288	237577288	T	C	exonic	RAB17	.	nonsynonymous SNV	RAB17:NM_022449:exon4:c.A404G:p.D135G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.581067544627	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174891800	1.368e-06	1.368e-06	2.723e-06	0	0.0004	2.3e-07	9e-08	6.206e-05	2.563e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000062	0.52346	D	0.000000	1	0.81001	D	4.34	0.98424	H	-3.89	0.95984	D	-6.59	0.91998	D	0.984	0.99337	0.402	0.89124	D	0.610	0.86170	D	10	0.9921787	0.99753	D	0.581068	0.96246	D	0.938	0.98636	0.975	0.99766	0.968352648228	0.96801	0.8605340550383629	0.86017	0.495345177098	0.48073	0.513520359993	0.40715	T	0.79879	0.96342	D	0.549811	0.95797	D	0.551989	0.95735	D	0.999425530433655	0.97351	D	0.978677	0.99663	D	0.9519086	0.96460	0.8449459	0.91166	0.9519086	0.96460	0.8449459	0.91167	-12.78	0.88436	D	.	.	0.969	0.89314	P	.;.;.	.;.;.	5.130556	0.85853	28.7	0.99856051660059519	0.93458	0.99127	0.91622	D	AEFBCI	0.939060	0.93913	D	0.507866500040512	0.67554	5.097142	0.445349798571135	0.64419	4.696631	0.999999956168901	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	4.47	4.47	0.53770	7.155000	0.77033	7.268000	0.57981	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:0.0:0.0:1.0	10.145	0.41935	981	0.03995	Small GTP-binding protein domain;.;Small GTP-binding protein 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	.	.	.	.	.	.	.	.	0.05	877.43	36	chr2	237577288	.	T	C	877.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.927;DP=401;ExcessHet=0;FS=4.129;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=1.89;SOR=0.769	GT:AD:DP:GQ:PL	0/1:47,38:85:99:889,0,1111	9	0	1	0
chr2	238397532	238397532	C	T	exonic	TRAF3IP1	.	nonsynonymous SNV	TRAF3IP1:NM_001139490:exon14:c.C1565T:p.T522M,TRAF3IP1:NM_015650:exon16:c.C1763T:p.T588M	Senior-Loken syndrome 9, Autosomal recessive	420	1101	1	0	0	1	0.000453926	.	.	.	1446532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00550075176858	7.7e-05	.	4.158e-05	0	0	0	0	6.073e-05	0.0011	0	3.23e-05	5	154602	rs201946956	1.506e-05	1.505e-05	1.498e-05	1.514e-05	2.236e-05	9.86e-06	8.42e-06	9.31e-06	7.61e-06	0	2.236e-05	0	0	0	0	1.529e-05	4.97e-05	1.159e-05	3.942e-05	3.939e-05	2.569e-05	5.379e-05	0.0002	1.715e-05	1.129e-05	5.285e-05	2.835e-05	0	0	0.0002	0	0	0	0	4.41e-05	0	0	0.135	0.26300	T	0.155	0.39340	T	0.006	0.13644	B	0.008	0.18140	B	0.266286	0.03743	N	1.418460	1	0.08975	N	0.235	0.09667	N	2.49	0.14531	T	-1.45	0.37178	N	0.146	0.14763	-0.9888	0.32903	T	0.027	0.11397	T	10	0.044859022	0.03490	T	0.005501	0.14166	T	0.018	0.03083	.	.	0.0611884634855	0.05136	0.048487495611515594	0.04791	0.149189735459	0.16824	0.229654207826	0.01942	T	0.015124	0.12745	T	-0.418879	0.01739	T	-0.683101	0.06796	T	0.0396870671864266	0.03633	T	0.709529	0.32034	T	0.021100251	0.00696	0.060125764	0.11399	0.021100251	0.00695	0.060125764	0.11398	-5.729	0.43950	T	0.1863818826017564	0.24257	0.066	0.02257	B	.;.	.;.	-0.491867	0.01894	0.156	0.94826817884466685	0.25603	0.02216	0.06453	N	AEFDBI	0.046825	0.07819	N	-1.3423563273065	0.03204	0.1427647	-1.41759399438035	0.03076	0.1427848	0.999333977633194	0.39185	0.706298	0.61202	0	0.670034	0.63936	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	5.36	-7.15	0.01369	-2.518000	0.01029	-3.981000	0.02413	-0.167000	0.11441	0.000000	0.06391	0.000000	0.08366	0.079000	0.17189	0.0838:0.612:0.1713:0.133	9.773	0.39771	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	.	.	.	.	.	.	.	.	0.05	2576.43	34	chr2	238397532	.	C	T	2576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.356;DP=508;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-1.14;SOR=0.674	GT:AD:DP:GQ:PL	0/1:86,109:195:99:2588,0,1917	9	0	1	0
chr3	14661587	14661587	G	A	exonic	CCDC174	.	nonsynonymous SNV	CCDC174:NM_016474:exon5:c.G365A:p.R122H	Hypotonia, infantile, with psychomotor retardation, Autosomal recessive	423	1069	29	1	0	31	0.0142923	.	.	.	708622	not_provided|CCDC174-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.041	.	0.0034	0.00658946	0.0055	0.0009	0.0035	0.0002	0.0012	0.0050	0.0022	0.0164	0.0052005	804	154602	rs142816619	0.0049	0.0050	0.0044	0.0055	0.0162	0.0049	0.0048	0.0155	0.0152	0.0016	0.0046	0.0135	0	0.0013	0.0160	0.0043	0.0054	0.0162	0.0039	0.0039	0.0037	0.0042	0.0170	0.0037	0.0036	0.0140	0.0129	0.0013	0	0.0044	0.0118	0.0006	0.0002	0.0204	0.0048	0.0066	0.0170	0.186	0.21467	T	0.08	0.41913	T	0.011	0.15914	B	0.004	0.10090	B	0.000252	0.46924	N	0.175246	0.981804	0.39818	D	1.745	0.45235	L	0.88	0.46412	T	-1.08	0.28084	N	0.157	0.21319	-1.0653	0.10479	T	0.068	0.27743	T	10	0.0043236315	0.00087	T	.	.	.	0.041	0.10877	.	.	0.639104523021	0.63613	0.14316327492055284	0.14239	0.199788861361	0.22381	0.216794580221	0.01133	T	0.026101	0.27364	T	-0.564125	0.00240	T	-0.570129	0.15438	T	0.0136823931805577	0.00255	T	0.886911	0.61435	D	0.031042334	0.02873	0.039528966	0.04066	0.034937356	0.04016	0.039528966	0.04065	-6.261	0.48413	T	.	.	0.088	0.11797	B	.;.;.	.;.;.	2.539914	0.32855	19.17	0.9991133438895361	0.98095	0.80068	0.39807	D	AEFBI	0.100218	0.20157	N	-0.333416735804446	0.27886	1.533608	-0.237167203402987	0.30215	1.699395	0.946795643710127	0.27723	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	3.72	0.41857	2.868000	0.48134	1.230000	0.25036	0.618000	0.50648	1.000000	0.71638	0.070000	0.22201	0.999000	0.91618	0.23:0.0:0.77:0.0	9.339	0.37229	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	1	0	0	0	0	1	0	0.016113	0.035354	0.017663	0.011696	0.000000	0.017241	0.012195	0.015152	0.05	1377.43	35	chr3	14661587	.	G	A	1377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.509;SOR=0.706	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1389,0,1416	9	0	1	0
chr3	19518018	19518018	G	C	exonic	KCNH8	.	nonsynonymous SNV	KCNH8:NM_144633:exon15:c.G2563C:p.V855L	.	437	1041	44	0	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	.	0.0050	0.00878594	0.0071	0.0013	0.0030	0.0093	0.0003	0.0057	0.0122	0.0202	0.0067464	1043	154602	rs148330866	0.0069	0.0069	0.0066	0.0072	0.0187	0.0068	0.0067	0.0180	0.0177	0.0013	0.0028	0.0089	0.0069	0.0004	0.0104	0.0064	0.0093	0.0187	0.0045	0.0045	0.0046	0.0043	0.0195	0.0042	0.0041	0.0163	0.0151	0.0015	0	0.0028	0.0092	0.0064	0.0002	0.0136	0.0058	0.0066	0.0195	0.449	0.09022	T	0.45	0.12957	T	0.004	0.12183	B	0.006	0.12133	B	0.235214	0.15833	U	0.319355	0.952348	0.26441	N	1.22	0.30592	L	-4.94	0.98409	D	-0.12	0.08809	N	0.442	0.48042	0.347	0.88289	D	0.777	0.92439	D	9	0.0077180862	0.00175	T	.	.	.	0.276	0.59253	.	.	0.819814452651	0.81811	0.3165417831225672	0.31567	0.0221848989643	0.02225	0.566369891167	0.48166	T	0.043438	0.26503	T	-0.276342	0.11059	T	-0.154786	0.58818	T	0.00441561722205172	0.00047	T	0.849515	0.53247	T	0.053219985	0.10038	0.05492728	0.09540	0.053219985	0.10038	0.05492728	0.09539	-3.412	0.15218	T	.	.	0.129	0.27553	B	.	.	2.551420	0.33023	19.22	0.97481368689112602	0.34188	0.90754	0.52198	D	AEFI	0.426222	0.49066	N	-0.214322457249247	0.32546	1.836586	-0.0371423809536064	0.38051	2.236427	5.53132372717157E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.66	3.82	0.43153	3.433000	0.52597	7.417000	0.58687	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0727:0.0:0.7821:0.1452	9.463	0.37962	667	0.61242	.	.	.	.	.	.	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	0.010081	0.000000	0.006793	0.011696	0.000000	0.008621	0.012195	0.022727	0.1	1842.14	34	chr3	19518018	.	G	C	1842.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.525;DP=432;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.244;SOR=0.65	GT:AD:DP:GQ:PL	0/1:33,47:80:99:1212,0,886	8	0	2	0
chr3	31989575	31989575	C	T	exonic	ZNF860	.	nonsynonymous SNV	ZNF860:NM_001137674:exon2:c.C496T:p.L166F	.	410	1109	3	0	0	3	0.00135074	.	.	.	2243608	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.00104807514355	0.0004	0.000199681	0.0003	0	8.639e-05	0	0	0.0004	0	0.0004	0.0002393	37	154602	rs145325915	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	2.987e-05	0	0.0034	0	1.872e-05	0.0002	0.0002	0.0005	0.0004	0.0002	0.0002	0.0001	0.0003	0.0004	0.0001	0.0001	0.0001	0.0001	0	0	0	0.0032	0	0	0	0.0002	0	0.0004	0.012	0.54683	D	0.023	0.57104	D	0.984	0.60733	D	0.969	0.72001	D	.	.	.	.	1	0.08975	N	2.745	0.80253	M	3.41	0.05574	T	-3.34	0.66325	D	0.02	0.00308	-1.0632	0.10974	T	0.038	0.16548	T	8	0.008540958	0.00194	T	0.001048	0.01191	T	0.017	0.02790	.	.	0.314716216878	0.31082	0.005994352278430046	0.00568	0.465862803221	0.46006	0.301982045174	0.10696	T	0.019591	0.15579	T	-0.520086	0.00440	T	-0.674325	0.07334	T	0.110895977010984	0.13515	T	0.10049	0.00746	T	0.1302067	0.30389	0.12402995	0.29899	0.1302067	0.30388	0.12402995	0.29899	-6.873	0.53100	T	.	.	0.090	0.12702	B	.	.	1.903789	0.24177	16.30	0.98958098111793413	0.49266	0.00687	0.02939	N	AEFBI	0.027913	0.02366	N	-0.429751354635434	0.24431	1.319148	-0.755033008712436	0.15599	0.8212004	0.763322335750834	0.23547	0.554377	0.28877	0	0.573888	0.26702	0	0.463624	0.06942	0	0.567892	0.33627	0	.	.	0.345	0.345	0.15249	0.735000	0.25783	-2.951000	0.03199	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.066000	0.16387	0.0:0.9998:0.0:2.0E-4	6.444	0.21066	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3601.43	36	chr3	31989575	.	C	T	3601.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=1345;ExcessHet=0;FS=0.84;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.868;SOR=0.63	GT:AD:DP:GQ:PL	0/1:191,141:332:99:3613,0,5020	9	0	1	0
chr3	45595726	45595726	G	A	exonic	LIMD1	.	nonsynonymous SNV	LIMD1:NM_014240:exon1:c.G847A:p.G283R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0436449696286	.	.	8.263e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs749761214	1.3e-05	1.3e-05	1.77e-05	8.251e-06	1.529e-05	8.31e-06	6.7e-06	9.31e-06	7.61e-06	0	0	0	0	1.876e-05	0	1.529e-05	1.656e-05	0	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	0.004	0.65419	D	0.306	0.23776	T	0.89	0.48942	P	0.207	0.37187	B	0.486624	0.05012	N	1.306860	0.99912	0.21598	N	1.845	0.48678	L	0.35	0.58029	T	-2.56	0.55339	D	0.346	0.48596	-0.8646	0.50930	T	0.128	0.43544	T	10	0.2468836	0.41960	T	0.043645	0.61090	D	0.105	0.29889	0.297	0.26202	0.636843794314	0.63386	0.20095916356719698	0.20012	0.609113261058	0.55654	0.436773687601	0.30137	T	0.23239	0.59894	T	-0.0901516	0.38052	T	-0.351787	0.39000	T	0.830394268035889	0.48561	D	0.622538	0.23960	T	0.15543929	0.35131	0.19518156	0.43180	0.15543929	0.35131	0.19518156	0.43179	-3.228	0.12826	T	.	.	0.243	0.47762	B	.;.	.;.	4.354279	0.66909	25.0	0.99896007940269582	0.96895	0.69734	0.34306	D	AEFDGBCI	0.274572	0.38973	N	0.112380482910732	0.47040	2.935346	0.162499085963009	0.47808	3.005531	0.999999998997676	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	4.92	4.92	0.64147	3.484000	0.52965	8.549000	0.77521	0.676000	0.76740	0.588000	0.27650	1.000000	0.68203	0.063000	0.16184	0.0:0.0:1.0:0.0	16.340	0.82912	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1852.43	44	chr3	45595726	.	G	A	1852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=582;ExcessHet=0;FS=2.316;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-0.243;SOR=0.488	GT:AD:DP:GQ:PL	0/1:57,67:124:99:1864,0,1402	9	0	1	0
chr3	47124022	47124022	G	A	exonic	SETD2	.	nonsynonymous SNV	SETD2:NM_001349370:exon2:c.C482T:p.P161L,SETD2:NM_014159:exon3:c.C614T:p.P205L	Luscan-Lumish syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.072020760523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.974	0.57829	D	0.601	0.50808	P	.	.	.	.	0.904634	0.36256	D	1.04	0.26193	L	-2.61	0.89953	D	-2.54	0.90215	D	0.252	0.28498	0.158	0.85189	D	0.520	0.82057	D	9	0.27579433	0.45139	T	0.072021	0.71423	D	0.304	0.62510	0.096	0.01287	0.678572320616	0.67583	0.380527710447365	0.37967	0.268336896757	0.29355	0.367448568344	0.20465	T	0.181619	0.53336	T	0.12736	0.67103	D	-0.0548325	0.66692	D	0.563996195793152	0.35007	D	0.859714	0.55187	D	0.104827076	0.24783	0.20234323	0.44257	0.104827076	0.24782	0.20234323	0.44256	-4.774	0.34286	T	.	.	0.092	0.15520	B	.;.	.;.	3.777773	0.54301	23.5	0.9984588495272807	0.92576	0.96514	0.69520	D	AEFBI	0.468030	0.51500	N	0.352549473157512	0.58873	4.062451	0.42364083222302	0.63042	4.530253	0.999346639450027	0.39222	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	4.830000	0.62434	9.785000	0.81617	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.1461:0.7031:0.1508	10.157	0.42004	13	0.98894	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1810.43	41	chr3	47124022	.	G	A	1810.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.732;DP=475;ExcessHet=0;FS=7.97;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=2.11;SOR=1.143	GT:AD:DP:GQ:PL	0/1:63,66:129:99:1822,0,1748	9	0	1	0
chr3	48174283	48174283	C	G	splicing	CDC25A	NM_201567:exon8:c.810+1G>C;NM_001789:exon9:c.930+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.71e-05	0	1.381e-06	3.025e-05	0	0	.	.	3.025e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392481	0.89476	D	0.325996	0.89343	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.000131	0.82956	27.9	0.98231250675388404	0.39396	0.95833	0.66349	D	AEFBI	.	.	.	1.00404451880619	0.95868	14.04926	0.84618449324408	0.92792	11.63411	0.999998650712667	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.117559	0.03655	0	0.957114	0.64042	5.6	4.72	0.59248	2.505000	0.45084	6.999000	0.57189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.9136:0.0:0.0864	11.513	0.49752	22	0.98466	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1875	116.92	86	chr3	48174283	.	C	G	116.92	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-1.236;DP=735;ExcessHet=0.7463;FS=134.56;InbreedingCoeff=-0.2658;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=1.31;SOR=9.624	GT:AD:DP:GQ:PL	0/1:63,21:84:33:33,0,981	5	0	3	2
chr3	48464990	48464990	A	T	exonic	ATRIP	.	nonsynonymous SNV	ATRIP:NM_032166:exon11:c.A2134T:p.M712L,ATRIP:NM_001271023:exon12:c.A1936T:p.M646L,ATRIP:NM_130384:exon12:c.A2215T:p.M739L,ATRIP:NM_001271022:exon13:c.A1834T:p.M612L	.	412	1108	2	0	0	2	0.000901713	.	.	.	734123	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.061	0.0060623757836	0.0028	0.000798722	0.0017	0.0005	0.0003	0	0.0005	0.0027	0	0.0009	0.0018952	293	154602	rs142995259	0.0032	0.0032	0.0033	0.0032	0.0039	0.0031	0.0031	0.0038	0.0038	0.0005	0.0009	0.0003	0	0.0008	0.0024	0.0039	0.0023	0.0010	0.0018	0.0018	0.0020	0.0015	0.0031	0.0016	0.0015	0.0028	0.0026	0.0007	0.0011	0.0011	0.0003	0	0.0006	0	0.0031	0.0019	0.0004	0.518	0.07307	T	0.507	0.10967	T	0.004	0.12183	B	0.002	0.06944	B	0.011030	0.29689	N	0.360944	0.999998	0.08975	N	0	0.06538	N	1.02	0.40749	T	-0.73	0.20576	N	0.256	0.30574	-1.0190	0.24041	T	0.044	0.18989	T	10	0.011906058	0.00258	T	0.006062	0.15846	T	0.061	0.17616	0.218	0.13932	0.265010934533	0.26120	0.19240586389376055	0.19158	0.248207255185	0.27377	0.323081582785	0.13888	T	0.066604	0.32988	T	-0.503229	0.00548	T	-0.494677	0.22902	T	0.0021730287256603	0.00022	T	0.79572	0.47860	T	0.055581182	0.10820	0.05703787	0.10300	0.055581182	0.10820	0.05703787	0.10299	0.83	0.00221	T	.	.	0.123	0.30264	B	.;.;.;.	.;.;.;.	1.640549	0.20938	14.98	0.66624541798263126	0.08113	0.60264	0.31146	D	AEFDGBCI	0.335369	0.43383	N	-1.05550936921244	0.07480	0.3476114	-0.934608313776253	0.11282	0.5737417	0.999999691416365	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.51	1.68	0.23219	3.847000	0.55604	1.675000	0.27978	-0.562000	0.04833	1.000000	0.71638	0.940000	0.28757	0.165000	0.20815	0.3501:0.0:0.6499:0.0	7.625	0.27373	13	0.98894	.;.;.;.	.	.	.	.	.	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	0.003021	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2073.43	39	chr3	48464990	.	A	T	2073.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.785;DP=493;ExcessHet=0;FS=4.103;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.013;SOR=0.433	GT:AD:DP:GQ:PL	0/1:59,80:139:99:2085,0,1531	9	0	1	0
chr3	48467452	48467452	A	G	exonic	TREX1	.	nonsynonymous SNV	TREX1:NM_007248:exon2:c.A767G:p.E256G,TREX1:NM_033629:exon2:c.A797G:p.E266G	Aicardi-Goutieres syndrome 1, dominant and recessive, Autosomal recessive, Autosomal dominant;Chilblain lupus, Autosomal dominant;Vasculopathy, retinal, with cerebral leukodystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	102136	Aicardi-Goutieres_syndrome_1|Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations|Chilblain_lupus_1|Aicardi_Goutieres_syndrome|TREX1-related_disorder|not_provided|not_specified|Systemic_lupus_erythematosus	MONDO:MONDO:0009165,MedGen:C0796126,OMIM:225750,Orphanet:51|MONDO:MONDO:0008641,MedGen:C1860518,OMIM:192315,Orphanet:247691,Orphanet:3421,Orphanet:63261,Orphanet:71291|MONDO:MONDO:0012500,MedGen:C0024145,OMIM:610448|MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51|MedGen:CN239414|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.00438214772948	0.0028	0.000199681	0.0017	0.0004	0.0003	0	0.0005	0.0027	0	0.0008	0.0017982	278	154602	rs55999987	0.0031	0.0031	0.0032	0.0031	0.0038	0.0031	0.0030	0.0037	0.0037	0.0004	0.0007	0.0003	0	0.0008	0.0005	0.0038	0.0022	0.0010	0.0017	0.0017	0.0020	0.0015	0.0031	0.0016	0.0015	0.0027	0.0026	0.0007	0.0011	0.0010	0.0003	0	0.0006	0	0.0031	0.0019	0.0004	0.469	0.08685	T	0.215	0.27591	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.88	0.46028	T	-0.59	0.19933	N	0.055	0.06587	-0.9837	0.34140	T	0.028	0.11882	T	9	0.004069388	0.00079	T	0.004382	0.10687	T	0.032	0.07718	.	.	0.0611884634855	0.05136	0.2850471656553265	0.28417	.	.	0.237144261599	0.02539	T	0.009145	0.08348	T	-0.680609	0.00048	T	-0.749471	0.03506	T	0.000617096549831331	0.00005	T	0.253275	0.03871	T	0.06340844	0.13347	0.04638616	0.06452	0.07665069	0.17349	0.041035414	0.04573	-2.053	0.03388	T	0.0868777219441083	0.05046	0.051	0.00397	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.047645	0.03964	0.891	0.77497490077087172	0.11901	0.00791	0.03234	N	AEFGBHCI	0.069037	0.13647	N	-1.79436455178858	0.00559	0.02407863	-1.76482763463777	0.00879	0.03927136	0.99999980742473	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.1	-4.46	0.03288	-0.429000	0.07051	0.481000	0.18806	-0.704000	0.03997	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.571:0.0:0.3001:0.1289	6.611	0.21944	13	0.98894	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1755.43	40	chr3	48467452	.	A	G	1755.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.042;DP=474;ExcessHet=0;FS=2.226;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.106;SOR=0.929	GT:AD:DP:GQ:PL	0/1:66,65:131:99:1767,0,1914	9	0	1	0
chr3	49271371	49271371	C	T	exonic	C3orf62	.	nonsynonymous SNV	C3orf62:NM_198562:exon3:c.G613A:p.G205S	.	434	1071	17	0	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00498835903467	0.0034	0.00119808	0.0029	0.0008	0.0010	0	0.0014	0.0045	0.0022	0.0012	0.0030983	479	154602	rs150162031	0.0047	0.0047	0.0048	0.0047	0.0080	0.0046	0.0046	0.0061	0.0055	0.0011	0.0021	0.0004	0	0.0019	0.0080	0.0056	0.0047	0.0017	0.0031	0.0031	0.0033	0.0029	0.0050	0.0029	0.0028	0.0046	0.0044	0.0011	0.0011	0.0035	0.0003	0	0.0015	0.0068	0.0050	0.0038	0.0008	0.162	0.23541	T	0.297	0.20551	T	0.051	0.22415	B	0.067	0.27542	B	0.079406	0.20986	N	0.404485	0.999992	0.08975	N	1.445	0.36358	L	0.79	0.49068	T	-2.9	0.60827	D	0.115	0.10340	-1.0477	0.15045	T	0.055	0.23338	T	10	0.0040697157	0.00079	T	0.004988	0.12598	T	0.012	0.01476	.	.	0.289474373501	0.28556	0.12887484892142367	0.12812	0.0816453080078	0.09195	.	.	.	0.037492	0.24493	T	-0.52518	0.00410	T	-0.523435	0.19946	T	0.00917204199756853	0.00116	T	0.582642	0.21138	T	0.05229814	0.09735	0.06583787	0.13400	0.05229814	0.09734	0.06583787	0.13400	-2.482	0.05660	T	.	.	0.076	0.06069	B	.	.	0.841708	0.12137	8.685	0.55620872445190972	0.05380	0.03476	0.08635	N	AEFDGBI	0.033556	0.04004	N	-0.759683506032497	0.14371	0.7153474	-0.734477403460254	0.16104	0.8503523	0.725265385761274	0.22980	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.16	2.19	0.26890	0.477000	0.21906	2.023000	0.30218	0.469000	0.21855	0.314000	0.25450	0.990000	0.31317	0.130000	0.19568	0.0:0.6775:0.0:0.3225	6.116	0.19348	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.012228	0.005848	0.000000	0.008621	0.003049	0.003788	0.05	1059.43	34	chr3	49271371	.	C	T	1059.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.346;DP=397;ExcessHet=0;FS=0.915;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.623;SOR=0.9	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1071,0,1039	9	0	1	0
chr3	49510792	49510792	G	C	exonic	DAG1	.	nonsynonymous SNV	DAG1:NM_001177639:exon2:c.G258C:p.L86F,DAG1:NM_001177643:exon2:c.G258C:p.L86F,DAG1:NM_001177644:exon2:c.G258C:p.L86F,DAG1:NM_004393:exon2:c.G258C:p.L86F,DAG1:NM_001177635:exon3:c.G258C:p.L86F,DAG1:NM_001177637:exon3:c.G258C:p.L86F,DAG1:NM_001177638:exon3:c.G258C:p.L86F,DAG1:NM_001177640:exon3:c.G258C:p.L86F,DAG1:NM_001177641:exon3:c.G258C:p.L86F,DAG1:NM_001177642:exon3:c.G258C:p.L86F,DAG1:NM_001177636:exon4:c.G258C:p.L86F,DAG1:NM_001165928:exon5:c.G258C:p.L86F,DAG1:NM_001177634:exon5:c.G258C:p.L86F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	192381	DAG1-related_disorder|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A9|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2P|not_specified|not_provided	.|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538,Orphanet:370997,Orphanet:899|MONDO:MONDO:0013440,MedGen:C4511963,OMIM:613818,Orphanet:280333|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.225	0.0345599240663	0.0034	0.00119808	0.0029	0.0008	0.0011	0	0.0014	0.0045	0.0022	0.0012	0.0030853	477	154602	rs145403829	0.0047	0.0047	0.0048	0.0047	0.0080	0.0046	0.0046	0.0061	0.0055	0.0011	0.0021	0.0004	2.519e-05	0.0019	0.0080	0.0056	0.0048	0.0017	0.0031	0.0031	0.0033	0.0029	0.0051	0.0029	0.0028	0.0046	0.0045	0.0010	0.0011	0.0035	0.0003	0	0.0014	0.0068	0.0051	0.0038	0.0008	0.236	0.20381	T	0.148	0.92824	T	0.001	0.07471	B	0.001	0.04355	B	0.009542	0.30309	N	0.282211	0.79151	0.34393	D	1.01	0.25309	L	-4.99	0.98507	D	-0.56	0.37759	N	0.148	0.15187	0.320	0.87869	D	0.728	0.90705	D	10	0.0061346292	0.00226	T	0.03456	0.55756	D	0.225	0.52323	0.718	0.85319	0.598950722394	0.59575	0.5055072432473939	0.50472	0.297566637379	0.32142	0.339848846197	0.16416	T	0.355552	0.72254	T	-0.249766	0.14126	T	-0.127822	0.61155	T	0.00495819392435207	0.00053	T	0.732227	0.47282	T	0.037615046	0.04856	0.042526096	0.05086	0.037615046	0.04856	0.042526096	0.05086	-5.321	0.40150	T	0.12676215551597242	0.12860	0.127	0.29283	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.319415	0.17233	13.04	0.97940415029161143	0.37028	0.75762	0.37112	D	AEFBI	0.262267	0.38004	N	-0.531824808102353	0.21057	1.114735	-0.322680728659568	0.27368	1.518104	0.00105108255013359	0.08159	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	4.3	0.50540	1.018000	0.29604	2.259000	0.31747	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.7593:0.0:0.0858:0.1549	5.342	0.15295	1	0.99630	Dystroglycan-type cadherin-like;.;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type 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	0.008560	0.000000	0.012228	0.005848	0.000000	0.008621	0.006098	0.000000	0.05	729.43	36	chr3	49510792	.	G	C	729.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.081;DP=521;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.35;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,32:73:99:741,0,1007	9	0	1	0
chr3	49685734	49685734	T	G	splicing	MST1	NM_020998:exon11:c.1251-2A>C	.	.	.	396	1048	78	0	0	78	0.0358786	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0022	0.0048	0.0020	0.0040	0.0032	0.0022	0.0038	0.0011902	184	154602	rs9714011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0312953	0.47230	T	-0.28273	0.46524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.318552	0.66070	24.9	0.82760893892845555	0.14361	0.84942	0.44038	D	AEFDBCI	.	.	.	0.550271141106862	0.70098	5.451985	0.329790380301468	0.57298	3.894969	0.999999223157914	0.74766	0.199473	0.04044	0	0.09434	0.02614	0	0.215285	0.04585	0	0.109499	0.03221	0	0.244363	0.32384	5.22	4.06	0.46572	2.893000	0.48331	7.791000	0.68894	-0.114000	0.14653	0.998000	0.41325	1.000000	0.68203	0.017000	0.10941	0.1492:0.0819:0.0:0.7689	5.690	0.17097	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	674.14	34	chr3	49685734	.	T	G	674.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.942;DP=1000;ExcessHet=0.2348;FS=15.949;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.2;MQRankSum=-16.25;QD=1.13;ReadPosRankSum=-3.62;SOR=2.422	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,35:306:99:0|1:49685734_T_G:608,0,11027:49685734	8	0	2	0
chr3	49813066	49813066	C	T	exonic	UBA7	.	nonsynonymous SNV	UBA7:NM_003335:exon4:c.G463A:p.V155M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0373249563241	0.0007	0.000399361	0.0003	9.771e-05	0.0002	0	0	0.0004	0	0.0007	0.0003687	57	154602	rs140891266	0.0008	0.0008	0.0008	0.0008	0.0009	0.0007	0.0007	0.0009	0.0009	0.0001	0.0003	0	0	0	0	0.0009	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	9.625e-05	0	0.0001	0	0.0002	0	0	0.0006	0.0005	0.0004	0.001	0.78490	D	0.016	0.60972	D	0.95	0.53885	P	0.608	0.51027	P	0.023209	0.26485	N	0.416065	0.650228	0.32957	D	2.075	0.57047	M	1.53	0.30401	T	0.15	0.05310	N	0.432	0.47115	-0.8723	0.50356	T	0.085	0.33014	T	10	0.19358513	0.35135	T	0.037325	0.57547	D	0.096	0.27654	.	.	0.367425347029	0.36354	0.3398301860689847	0.33896	0.393638441678	0.40536	0.422733604908	0.28212	T	0.078345	0.35870	T	-0.446251	0.01188	T	-0.454318	0.27220	T	0.130695988151273	0.15446	T	0.864214	0.56114	D	0.12864125	0.30069	0.14440024	0.34283	0.12864125	0.30068	0.14440024	0.34282	-7.38	0.56764	T	.	.	0.199	0.42215	B	.	.	2.626147	0.34140	19.54	0.99791434733907824	0.87750	0.78913	0.39008	D	AEFDBI	0.358475	0.44914	N	0.0625665483445217	0.44722	2.741143	-0.0108609711252325	0.39223	2.322389	0.999999564120201	0.74766	0.653281	0.48532	0	0.685571	0.66316	0	0.547309	0.15389	0	0.669	0.65921	0	.	.	5.04	4.17	0.48303	2.745000	0.47134	1.774000	0.28659	0.596000	0.33519	0.977000	0.34929	0.918000	0.28264	0.234000	0.22842	0.1632:0.7537:0.0:0.0831	7.636	0.27431	1	0.99630	THIF-type NAD/FAD binding fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	482.43	34	chr3	49813066	.	C	T	482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.962;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-0.849;SOR=0.681	GT:AD:DP:GQ:PL	0/1:35,20:55:99:494,0,1066	9	0	1	0
chr3	49967940	49967940	C	T	exonic	RBM6	.	nonsynonymous SNV	RBM6:NM_005777:exon3:c.C515T:p.P172L	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0100298902649	0.0034	0.000998403	0.0030	0.0010	0.0009	0	0.0015	0.0048	0.0022	0.0012	0.0032988	510	154602	rs142246877	0.0049	0.0049	0.0049	0.0048	0.0073	0.0048	0.0047	0.0056	0.0056	0.0011	0.0018	0.0003	0	0.0019	0.0073	0.0058	0.0045	0.0016	0.0030	0.0030	0.0031	0.0028	0.0051	0.0027	0.0027	0.0046	0.0045	0.0011	0.0011	0.0020	0.0003	0	0.0014	0.0102	0.0051	0.0038	0.0006	0.001	0.78490	D	0.021	0.64786	D	0.321	0.33029	B	0.062	0.26930	B	0.000894	0.41231	D	0.109289	0.999863	0.81001	D	1.65	0.42232	L	1.43	0.34452	T	-1.85	0.50992	N	0.486	0.52029	-1.0993	0.04177	T	0.083	0.32440	T	9	0.004526913	0.00093	T	0.01003	0.26080	T	0.083	0.24192	.	.	0.15499578495	0.15088	0.14153409268837117	0.14076	0.305705308733	0.32871	0.419859230518	0.27816	T	0.042636	0.26245	T	-0.382983	0.02983	T	-0.319179	0.42666	T	0.0381481344631312	0.03359	T	0.770723	0.40088	T	0.08188415	0.18837	0.20852245	0.45158	0.08188415	0.18837	0.20852245	0.45157	-5.356	0.40494	T	.	.	0.103	0.24599	B	.;.	.;.	3.351299	0.46229	22.3	0.99153785998759991	0.53903	0.90023	0.50882	D	AEFBI	0.339796	0.43682	N	0.143595569422062	0.48509	3.062314	0.316290365851008	0.56498	3.813063	0.999999963288483	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.88	5.88	0.94564	4.948000	0.63290	3.916000	0.40440	0.599000	0.40250	0.957000	0.33433	0.985000	0.30750	0.998000	0.85391	0.0:1.0:0.0:0.0	20.241	0.98374	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010870	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	1344.43	49	chr3	49967940	.	C	T	1344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.342;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.441;SOR=0.699	GT:AD:DP:GQ:PL	0/1:72,52:124:99:1356,0,2079	9	0	1	0
chr3	49968422	49968422	G	A	exonic	RBM6	.	nonsynonymous SNV	RBM6:NM_005777:exon3:c.G997A:p.E333K	.	431	1075	16	0	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.0143845706614	0.0034	0.000998403	0.0030	0.0010	0.0009	0	0.0015	0.0048	0.0022	0.0012	0.0032988	510	154602	rs143972186	0.0049	0.0049	0.0049	0.0048	0.0073	0.0048	0.0047	0.0056	0.0056	0.0011	0.0018	0.0003	0	0.0019	0.0073	0.0058	0.0045	0.0016	0.0030	0.0030	0.0031	0.0028	0.0051	0.0028	0.0027	0.0046	0.0045	0.0011	0.0011	0.0020	0.0003	0	0.0014	0.0102	0.0051	0.0038	0.0006	0.003	0.68238	D	0.029	0.60972	D	0.997	0.70673	D	0.985	0.76457	D	0.000098	0.51296	D	0.128334	0.999955	0.81001	D	1.67	0.42885	L	1.11	0.38883	T	-0.85	0.26843	N	0.602	0.62781	-0.9783	0.35390	T	0.157	0.48976	T	9	0.009088129	0.00206	T	0.014385	0.34475	T	0.185	0.45933	.	.	0.452650218784	0.44890	0.11714516375178394	0.11642	0.724846526864	0.62416	0.580195665359	0.50113	T	0.024564	0.18538	T	-0.218656	0.18177	T	-0.0831343	0.64675	T	0.0142588193611451	0.00283	T	0.941106	0.80130	D	0.2278714	0.45495	0.30712542	0.56735	0.2278714	0.45495	0.30712542	0.56734	-5.463	0.41521	T	.	.	0.097	0.24767	B	.;.	.;.	4.537798	0.71295	25.7	0.99890397515720919	0.96436	0.96020	0.67171	D	AEFBI	0.584761	0.58345	D	0.581729494852184	0.72037	5.742766	0.632814666593863	0.77337	6.65978	0.999999901186462	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	5.689000	0.67897	11.683000	0.94248	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0698:0.0:0.9302:0.0	13.733	0.62284	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.010870	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	1926.43	49	chr3	49968422	.	G	A	1926.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.13;DP=495;ExcessHet=0;FS=0.568;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.43;SOR=0.75	GT:AD:DP:GQ:PL	0/1:88,78:166:99:1938,0,2263	9	0	1	0
chr3	52488109	52488109	G	A	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_007184:exon16:c.G2617A:p.G873R	.	.	.	.	.	.	.	.	.	.	.	3556182	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.0059423537355	.	.	1.713e-05	0	0	0	0	1.57e-05	0	6.112e-05	1.29e-05	2	154602	rs770301540	2.807e-05	2.805e-05	2.861e-05	2.752e-05	3.478e-05	2.088e-05	1.88e-05	2.37e-05	2.103e-05	0	2.237e-05	0	2.519e-05	0	0	3.238e-05	0	3.478e-05	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.002	0.79402	D	0.995	0.67487	D	0.662	0.52860	P	0.002568	0.36316	N	0.267717	0.995009	0.42504	D	0.805	0.20218	L	3.09	0.08371	T	-1.99	0.45949	N	0.402	0.44666	-1.0846	0.06480	T	0.021	0.08917	T	10	0.2373397	0.40832	T	0.005942	0.15490	T	0.105	0.29889	0.35	0.34760	0.23524818089	0.23142	0.47909427520745856	0.47829	0.550900486598	0.51946	0.761237084866	0.76113	T	0.089572	0.38400	T	-0.146774	0.28819	T	-0.267079	0.48116	T	0.201812628388945	0.20515	T	0.851815	0.53646	D	0.093423	0.21942	0.12641914	0.30446	0.093423	0.21942	0.12641914	0.30445	-3.892	0.22182	T	.	.	0.504	0.65145	A	.;.	.;.	4.526931	0.71028	25.6	0.99875980712678125	0.95328	0.51496	0.28909	D	AEFBCI	0.099930	0.20106	N	0.241238919638776	0.53208	3.490698	0.249570930169503	0.52625	3.436114	0.317108952508057	0.19346	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.8	3.86	0.43689	2.134000	0.41725	8.175000	0.76766	0.672000	0.70159	0.974000	0.34632	1.000000	0.68203	0.271000	0.23793	0.122:0.0:0.7028:0.1752	6.822	0.23048	75	0.96833	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2283.43	49	chr3	52488109	.	G	A	2283.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.65;DP=615;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.914;SOR=0.754	GT:AD:DP:GQ:PL	0/1:85,83:168:99:2295,0,2054	9	0	1	0
chr3	53876082	53876082	-	GG	splicing	ACTR8	NM_022899:exon7:c.779-2->CC	.	.	.	440	839	208	22	13	265	0.13057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.00119808	0.0059	0.0165	0.0021	0.0132	0.0013	0.0045	0.0023	0.0062	0.0003842	10	26028	rs370490982	0.0026	0.0080	0.0026	0.0026	0.0129	0.0025	0.0025	0.0118	0.0114	0.0129	0.0022	0.0001	0.0035	0.0017	0.0011	0.0024	0.0025	0.0029	0.0053	0.0053	0.0053	0.0052	0.0128	0.0050	0.0048	0.0119	0.0115	0.0128	0	0.0067	0.0003	0.0048	0.0004	0	0.0019	0.0044	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1633.09	33	chr3	53876082	.	T	TGG	1633.09	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.67;DP=585;ExcessHet=0.2348;FS=3.769;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=0.983;SOR=0.997	GT:AD:DP:GQ:PL	0/1:71,47:118:99:898,0,2424	9	0	1	0
chr3	56729274	56729274	A	G	exonic	ARHGEF3	.	nonsynonymous SNV	ARHGEF3:NM_001128616:exon10:c.T1595C:p.V532A,ARHGEF3:NM_019555:exon10:c.T1577C:p.V526A,ARHGEF3:NM_001289698:exon11:c.T1595C:p.V532A,ARHGEF3:NM_001377411:exon12:c.T1580C:p.V527A,ARHGEF3:NM_001377412:exon12:c.T1580C:p.V527A,ARHGEF3:NM_001128615:exon13:c.T1673C:p.V558A,ARHGEF3:NM_001377407:exon13:c.T1673C:p.V558A,ARHGEF3:NM_001377410:exon13:c.T1613C:p.V538A,ARHGEF3:NM_001377409:exon14:c.T1613C:p.V538A,ARHGEF3:NM_001377408:exon15:c.T1613C:p.V538A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0148333833362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.841e-07	0	1.38e-06	1.169e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.013	0.63918	D	0.0	0.07471	B	0.001	0.10090	B	0.001347	0.39310	N	0.111526	0.875162	0.35639	D	0.895	0.22405	L	1.73	0.29342	T	-0.77	0.21429	N	0.352	0.49146	-1.0694	0.09545	T	0.070	0.28577	T	10	0.13107926	0.24947	T	0.014833	0.35199	T	0.059	0.16972	0.216	0.13643	0.236619781664	0.23270	0.2788461101496022	0.27797	0.145477071591	0.16437	0.677927732468	0.63971	T	0.03586	0.23881	T	-0.189182	0.22377	T	-0.509523	0.21363	T	0.590241134166718	0.36016	D	0.860114	0.55285	D	0.073734075	0.16497	0.08979573	0.21019	0.073734075	0.16497	0.08979573	0.21018	-7.239	0.56693	T	.	.	0.097	0.32202	B	.;.;.;.;.	.;.;.;.;.	2.597349	0.33703	19.42	0.98271513732365534	0.39768	0.94514	0.61411	D	AEFGBI	0.381394	0.46367	N	-0.112173054150492	0.36863	2.136539	0.051074141658476	0.42125	2.542452	0.999586113387944	0.40607	0.706548	0.73137	0	0.724815	0.89359	0	0.67347	0.61138	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	3.395000	0.52301	8.032000	0.76277	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	1.0:0.0:0.0:0.0	16.398	0.83459	384	0.83545	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1415.43	43	chr3	56729274	.	A	G	1415.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.54;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-1.091;SOR=0.684	GT:AD:DP:GQ:PL	0/1:49,55:104:99:1427,0,1296	9	0	1	0
chr3	73608602	73608602	C	T	exonic	PDZRN3	.	nonsynonymous SNV	PDZRN3:NM_015009:exon2:c.G806A:p.S269N	.	435	1086	0	1	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00433894234783	.	.	1.858e-05	0	0	0	0	3.353e-05	0	0	1.29e-05	2	154602	rs749181467	1.515e-05	1.642e-05	1.645e-05	1.383e-05	0.0005	9.92e-06	8.47e-06	0.0001	7.56e-05	0	0	0	0	1.876e-05	0.0005	1.359e-05	4.992e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	6.539e-05	2.18e-06	8.2e-07	.	.	0	0	6.539e-05	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.378	0.16086	T	0.0	0.02946	B	0.0	0.01387	B	0.339235	0.04177	N	1.384660	0.999831	0.21134	N	0.455	0.12820	N	1.76	0.25996	T	-0.35	0.12847	N	0.301	0.36359	-1.0970	0.04474	T	0.042	0.17910	T	10	0.11088106	0.20743	T	0.004339	0.10561	T	0.104	0.29647	0.433	0.48336	0.275349458131	0.27150	0.24674173881839512	0.24588	0.180131824157	0.20266	0.369983494282	0.20830	T	0.013617	0.11743	T	-0.417487	0.01775	T	-0.72981	0.04336	T	0.0232508312910795	0.01053	T	0.454055	0.20320	T	0.0354324	0.04169	0.06526559	0.13202	0.0354324	0.04168	0.06526559	0.13201	-7.481	0.66230	T	.	.	0.091	0.36535	B	.;.	.;.	1.322928	0.17275	13.06	0.79469583886917716	0.12756	0.91688	0.54053	D	AEFBI	0.509180	0.53875	D	-0.82400347699134	0.12699	0.6206354	-0.655500877783352	0.18078	0.9641541	0.999999503111934	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.42	3.65	0.40985	3.758000	0.54932	3.241000	0.36966	-0.852000	0.02700	1.000000	0.71638	0.997000	0.33255	0.737000	0.35335	0.0:0.8611:0.0:0.1389	12.083	0.52981	969	0.06854	PDZ domain|PDZ domain|PDZ 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	.	.	.	.	.	.	.	.	0.05	654.43	35	chr3	73608602	.	C	T	654.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.712;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=-0.222;SOR=0.77	GT:AD:DP:GQ:PL	0/1:18,25:43:99:666,0,450	9	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	21306.0	161	chr3	75730451	.	T	G	21306.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.248;DP=1190;ExcessHet=22.563;FS=6.109;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.37;MQRankSum=-6.108;QD=18.26;ReadPosRankSum=1.56;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,34:96:99:0|1:75730450_C_T:1241,0,2501:75730450	0	0	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3032.01	154	chr3	75736884	.	G	GA	3032.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.024;DP=1489;ExcessHet=22.563;FS=2.546;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.59;MQRankSum=-6.777;QD=2.12;ReadPosRankSum=0.738;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,19:138:99:.:.:136,0,4564:.	0	0	10	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	.	.	.	.	.	.	.	.	0.5	11377.0	152	chr3	75736891	.	G	A	11377.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.179;DP=1494;ExcessHet=22.563;FS=2.868;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.49;MQRankSum=-8.968;QD=7.73;ReadPosRankSum=0.917;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,45:146:99:.:.:1452,0,3442:.	0	0	10	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	.	.	.	.	.	.	.	.	0.45	11538.0	171	chr3	75736920	.	C	A	11538.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.484;DP=1551;ExcessHet=15.1594;FS=2.12;InbreedingCoeff=-0.8184;MLEAC=9;MLEAF=0.45;MQ=56.17;MQRankSum=-7.049;QD=8.32;ReadPosRankSum=-0.079;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,45:154:99:0|1:75736920_C_A:1561,0,4396:75736920	1	0	9	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	.	.	.	.	.	.	.	.	0.45	10802.1	180	chr3	75736928	.	C	T	10802.1	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.91;DP=1530;ExcessHet=15.1594;FS=2.159;InbreedingCoeff=-0.819;MLEAC=9;MLEAF=0.45;MQ=55.62;MQRankSum=-7.245;QD=7.92;ReadPosRankSum=0.071;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,42:155:99:0|1:75736920_C_A:1423,0,4541:75736920	1	0	9	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	.	.	.	.	.	.	.	.	0.4286	4700.28	186	chr3	75736981	.	T	C	4700.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.497;DP=1403;ExcessHet=4.5998;FS=0.574;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.5;MQ=52.94;MQRankSum=-7.6;QD=6.02;ReadPosRankSum=-0.695;SOR=0.76	GT:AD:DP:GQ:PL	0/1:101,42:143:99:886,0,3031	1	0	6	3
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	.	.	.	.	.	.	.	.	0.4	7273.34	218	chr3	75737012	.	C	T	7273.34	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.282;DP=1438;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6901;MLEAC=8;MLEAF=0.4;MQ=53.79;MQRankSum=-5.048;QD=6.21;ReadPosRankSum=1.1;SOR=0.722	GT:AD:DP:GQ:PL	0/1:97,55:152:99:1267,0,3037	2	0	8	0
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	.	.	.	.	.	.	.	.	0.45	10274.0	225	chr3	75737060	.	A	G	10274.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.615;DP=1524;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.04;MQRankSum=-5.089;QD=7.54;ReadPosRankSum=0.861;SOR=0.708	GT:AD:DP:GQ:PL	0/1:91,70:161:99:1646,0,3157	1	0	9	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	18634.0	209	chr3	75737092	.	C	T	18634.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.903;DP=1554;ExcessHet=22.563;FS=3.439;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.93;MQRankSum=-7.091;QD=12.08;ReadPosRankSum=1.29;SOR=0.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,69:168:99:0|1:75737092_C_T:2599,0,3949:75737092	0	0	10	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	18621.0	209	chr3	75737094	.	T	A	18621.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.506;DP=1548;ExcessHet=22.563;FS=4.367;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.04;MQRankSum=-7.138;QD=12.06;ReadPosRankSum=1.29;SOR=0.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,69:169:99:0|1:75737092_C_T:2596,0,3991:75737092	0	0	10	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	17689.0	206	chr3	75737105	.	T	A	17689.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.706;DP=1528;ExcessHet=22.563;FS=6.432;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.66;MQRankSum=-8.798;QD=11.61;ReadPosRankSum=0.99;SOR=1.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,62:164:99:0|1:75737092_C_T:2296,0,4096:75737092	0	0	10	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	15026.0	179	chr3	75737127	.	A	C	15026.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.995;DP=1458;ExcessHet=22.563;FS=6.735;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.36;MQRankSum=-9.527;QD=10.36;ReadPosRankSum=0.724;SOR=1.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,52:154:99:0|1:75737092_C_T:1876,0,4126:75737092	0	0	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	8633.98	146	chr3	75737163	.	CCTACATTCT	C	8633.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.329;DP=1221;ExcessHet=15.1594;FS=11.508;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.32;MQRankSum=-10.1;QD=8.13;ReadPosRankSum=-1.292;SOR=1.482	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,31:129:99:0|1:75737092_C_T:1007,0,3989:75737092	1	0	9	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	29055.0	242	chr3	75737519	.	G	A	29055.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.23;DP=1778;ExcessHet=22.563;FS=3.187;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.52;MQRankSum=-6.977;QD=17.01;ReadPosRankSum=0.822;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,61:145:99:.:.:2270,0,3209:.	0	0	10	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	33226.0	257	chr3	75737590	.	A	G	33226.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.639;DP=2000;ExcessHet=22.563;FS=0.523;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.83;MQRankSum=-11.54;QD=16.75;ReadPosRankSum=1.09;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,77:190:99:0|1:75737590_A_G:2864,0,4513:75737590	0	0	10	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	36674.0	275	chr3	75737608	.	T	C	36674.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.136;DP=2142;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.69;MQRankSum=-12.91;QD=17.15;ReadPosRankSum=0.045;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,89:203:99:0|1:75737590_A_G:3394,0,4519:75737590	0	0	10	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	37943.0	274	chr3	75737622	.	T	A	37943.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.327;DP=2188;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.99;MQRankSum=-12.64;QD=17.41;ReadPosRankSum=-0.408;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,95:215:99:0|1:75737590_A_G:3628,0,4753:75737590	0	0	10	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	36785.0	278	chr3	75737651	.	G	A	36785.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.29;DP=2144;ExcessHet=22.563;FS=1.096;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.76;MQRankSum=-11.17;QD=17.26;ReadPosRankSum=-0.326;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,93:218:99:0|1:75737590_A_G:3529,0,4969:75737590	0	0	10	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	34235.0	265	chr3	75737676	.	A	T	34235.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.48;DP=2005;ExcessHet=22.563;FS=1.748;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.4;MQRankSum=-9.806;QD=17.19;ReadPosRankSum=-0.156;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,89:216:99:0|1:75737590_A_G:3355,0,5065:75737590	0	0	10	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	17386.0	242	chr3	75737840	.	C	T	17386.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.182;DP=1956;ExcessHet=22.563;FS=9.369;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.03;MQRankSum=-4.376;QD=9.13;ReadPosRankSum=0.509;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,60:227:99:0|1:75737814_C_T:1956,0,6663:75737814	0	0	10	0
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	.	.	.	.	.	.	.	.	0.45	7087.02	239	chr3	75737881	.	T	C	7087.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.85;DP=1825;ExcessHet=15.1594;FS=14.307;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.68;MQRankSum=-7.284;QD=4.57;ReadPosRankSum=-3.421;SOR=1.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,31:203:99:0|1:75737881_T_C:597,0,6876:75737881	1	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5707.98	242	chr3	75737891	.	G	GAAAT	5707.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.2;DP=1739;ExcessHet=15.1594;FS=17.592;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.4;MQRankSum=-8.904;QD=3.76;ReadPosRankSum=-3.116;SOR=1.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,23:187:99:0|1:75737881_T_C:431,0,6705:75737881	1	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5470.98	235	chr3	75737893	.	A	ACTT	5470.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.239;DP=1724;ExcessHet=15.1594;FS=15.802;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.33;MQRankSum=-9.24;QD=3.64;ReadPosRankSum=-2.613;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,22:185:99:0|1:75737881_T_C:413,0,6701:75737881	1	0	9	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	.	.	.	.	.	.	.	.	0.45	3887.02	246	chr3	75738008	.	C	T	3887.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.756;DP=2102;ExcessHet=15.1594;FS=4.482;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.35;MQRankSum=-11.6;QD=2.07;ReadPosRankSum=2.5;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,15:185:99:0|1:75737994_T_C:118,0,7029:75737994	1	0	9	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	.	.	.	.	.	.	.	.	0.4	2285.98	232	chr3	75738053	.	C	A	2285.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.929;DP=1985;ExcessHet=10.3881;FS=3.371;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.37;MQRankSum=-10.29;QD=1.38;ReadPosRankSum=-1.279;SOR=1.156	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,14:181:85:0|1:75737994_T_C:85,0,6970:75737994	2	0	8	0
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	709.64	205	chr3	75738071	.	A	G	709.64	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.6;DP=1813;ExcessHet=1.5895;FS=5.078;InbreedingCoeff=-0.2392;MLEAC=4;MLEAF=0.2;MQ=57.56;MQRankSum=-9.725;QD=0.92;ReadPosRankSum=-1.306;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,12:171:25:0|1:75737994_T_C:25,0,6640:75737994	6	0	4	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	2104.98	122	chr3	75739165	.	C	T	2104.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.256;DP=1095;ExcessHet=10.3881;FS=18.333;InbreedingCoeff=-0.6665;MLEAC=8;MLEAF=0.4;MQ=56.69;MQRankSum=-7.997;QD=2.39;ReadPosRankSum=-0.323;SOR=1.354	GT:AD:DP:GQ:PL	0/1:107,19:126:99:273,0,3095	2	0	8	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	4366.02	105	chr3	75739283	.	G	T	4366.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.947;DP=845;ExcessHet=15.1594;FS=2.771;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.79;MQRankSum=-4.843;QD=5.88;ReadPosRankSum=0.209;SOR=0.934	GT:AD:DP:GQ:PL	0/1:57,24:81:99:537,0,1671	1	0	9	0
chr3	97876679	97876679	G	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G5485A:p.V1829I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.093532234	0.16559	T	.	.	.	.	.	.	.	0.649314703251	0.64640	0.02279940728365987	0.02231	.	.	.	.	.	0.002528	0.01914	T	-0.210633	0.19290	T	-0.540336	0.18263	T	.	.	.	0.630437	0.24556	T	0.0154797435	0.00141	0.0631296	0.12458	0.0154797435	0.00141	0.0631296	0.12458	-3.973	0.23398	T	.	.	0.076	0.06114	B	.	.	-0.174721	0.03221	0.538	0.62637516100819468	0.07014	0.01068	0.03958	N	AEFBI	.	.	.	.	.	.	.	.	.	6.49206290079249E-5	0.04366	0.162113	0.03585	0	0.084543	0.02171	0	0.183335	0.04453	0	0.24566	0.04862	0	0.0777541	0.17876	4.56	0.686	0.17179	-0.430000	0.07043	0.190000	0.15733	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.5109:0.0:0.4891:0.0	7.209	0.25101	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	.	.	.	.	.	.	.	.	0.1111	40.37	40	chr3	97876679	.	G	A	40.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-4.093;DP=1061;ExcessHet=0.2348;FS=133.571;InbreedingCoeff=-0.1404;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.14;ReadPosRankSum=1.15;SOR=8.955	GT:AD:DP:GQ:PL	0/1:123,32:155:42:42,0,2349	7	0	2	1
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2132.41	109	chr3	98133456	.	ACCCC	A	2132.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.678;DP=871;ExcessHet=0.7463;FS=369.503;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=1.63;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,37:131:99:0|1:98133456_ACCCC_A:686,0,3284:98133456	7	0	3	0
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2124.47	85	chr3	98133460	.	C	CGGGG	2124.47	.	AC=3;AF=0.5;AN=6;DP=740;ExcessHet=0.7463;FS=363.85;InbreedingCoeff=-0.4815;MLEAC=5;MLEAF=0.833;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=2.58;SOR=9.149	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,35:127:99:0|1:98133456_ACCCC_A:660,0,3247:98133456	0	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	.	.	.	.	.	.	.	.	0.45	1170.79	50	chr3	100775333	.	T	C	1170.79	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.379;DP=401;ExcessHet=15.1594;FS=290.87;InbreedingCoeff=-0.7983;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.26;ReadPosRankSum=0.5;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,18:45:99:.:.:174,0,442:.	1	0	9	0
chr3	113400593	113400593	C	T	exonic	CFAP44	.	nonsynonymous SNV	CFAP44:NM_001164496:exon12:c.G1426A:p.V476M,CFAP44:NM_018338:exon12:c.G1426A:p.V476M	.	433	1080	8	1	0	10	0.00460829	.	.	.	720080	CFAP44-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00938962937492	0.0035	0.000998403	0.0032	0.0005	0.0005	0.0001	0.0020	0.0052	0.0011	0.0010	0.0032406	501	154602	rs140356033	0.0045	0.0045	0.0047	0.0044	0.0054	0.0044	0.0044	0.0053	0.0053	0.0009	0.0010	0.0033	0	0.0023	0.0044	0.0054	0.0036	0.0009	0.0027	0.0027	0.0029	0.0025	0.0047	0.0025	0.0024	0.0043	0.0041	0.0007	0	0.0010	0.0043	0	0.0018	0	0.0047	0.0024	0.0008	0.45	0.14945	T	0.308	0.19845	T	0.377	0.34270	B	0.055	0.25995	B	.	.	.	.	0.999999	0.08975	N	.	.	.	-0.16	0.65378	T	0.27	0.04306	N	0.401	0.44187	-1.0198	0.23780	T	0.040	0.17277	T	9	0.008446187	0.00191	T	0.00939	0.24623	T	0.055	0.15663	.	.	0.0551355673512	0.04727	0.29472112457131805	0.29385	0.0932570728176	0.10540	0.300807952881	0.10521	T	0.011657	0.10368	T	-0.561809	0.00248	T	-0.57605	0.14900	T	0.00434306243996208	0.00046	T	0.723828	0.34357	T	0.020074658	0.00554	0.04838696	0.07176	0.020852897	0.00659	0.04299904	0.05251	-1.395	0.01850	T	.	.	0.075	0.07697	B	.;.	.;.	0.025623	0.04461	1.182	0.54114930578052978	0.05073	0.02087	0.06201	N	AEFBI	0.041378	0.06283	N	-1.46979112449287	0.02066	0.09083321	-1.55721998757784	0.01926	0.08790916	0.336051670714288	0.19535	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.98	-8.88	0.00679	-1.604000	0.02179	-0.530000	0.08641	-0.136000	0.12710	0.001000	0.13787	0.000000	0.08366	0.165000	0.20815	0.1851:0.2326:0.1988:0.3835	0.836	0.01067	188	0.92666	WD40-repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	175.43	27	chr3	113400593	.	C	T	175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.834;DP=293;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.5;ReadPosRankSum=1.34;SOR=0.675	GT:AD:DP:GQ:PL	0/1:18,9:27:99:187,0,403	9	0	1	0
chr3	126634047	126634047	C	T	exonic	TXNRD3	.	unknown	UNKNOWN	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0038	0	0	0	0.0050	0.0090	0	0.0004	0.0014683	227	154602	rs148730646	0.0071	0.0067	0.0074	0.0067	0.0083	0.0070	0.0069	0.0081	0.0081	0.0008	0.0028	0.0016	0	0.0058	0.0011	0.0083	0.0069	0.0002	0.0048	0.0048	0.0050	0.0046	0.0084	0.0046	0.0044	0.0078	0.0076	0.0016	0.0022	0.0033	0.0020	0	0.0024	0.0034	0.0084	0.0052	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001326	0.000000	0.000000	0.000000	0.000000	0.000000	0.005882	0.000000	0.05	1485.43	33	chr3	126634047	.	C	T	1485.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.296;DP=423;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=0.561;SOR=0.847	GT:AD:DP:GQ:PL	0/1:51,59:110:99:1497,0,1322	9	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	.	.	.	.	.	.	.	.	0.45	1586.91	59	chr3	128055734	.	T	C	1586.91	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.356;DP=621;ExcessHet=15.1594;FS=117.441;InbreedingCoeff=-0.8095;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=2.85;ReadPosRankSum=0.678;SOR=9.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,20:80:99:.:.:179,0,1393:.	1	0	9	0
chr3	129586630	129586630	G	C	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon3:c.C1578G:p.D526E	.	419	1101	2	0	0	2	0.000907441	.	.	.	2824912	PLXND1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.207	0.0386893778334	0.0008	0.000399361	0.0015	0.0005	0.0010	0	0	0.0024	0	0.0010	0.0006274	97	154602	rs142772519	0.0019	0.0019	0.0019	0.0018	0.0023	0.0018	0.0018	0.0022	0.0022	6.047e-05	0.0004	3.949e-05	0	5.891e-05	0.0005	0.0023	0.0010	0.0008	0.0009	0.0009	0.0010	0.0009	0.0016	0.0008	0.0008	0.0013	0.0013	0.0002	0	0.0013	0	0.0002	0	0	0.0016	0.0009	0.0004	0.002	0.72154	D	0.031	0.53788	D	0.999	0.77913	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.999988	0.54805	D	2.31	0.66127	M	3.63	0.04353	T	-2.65	0.64826	D	0.589	0.60918	-1.1565	0.00844	T	0.033	0.13986	T	10	0.028432906	0.00975	T	0.038689	0.58371	D	0.207	0.49555	0.39	0.41279	0.639857600353	0.63688	0.8155507093143118	0.81511	0.944256503279	0.72345	0.578715741634	0.49905	T	0.700177	0.91360	D	-0.306123	0.08094	T	-0.217116	0.53014	T	0.0757888182997704	0.09440	T	0.80302	0.45008	T	0.44613156	0.63796	0.45053798	0.68025	0.44613156	0.63796	0.45053798	0.68025	-8.158	0.62141	D	.	.	0.785	0.83001	P	.;.	.;.	3.956459	0.57992	23.9	0.99696368639599975	0.80316	0.89422	0.49877	D	AEFGBHCI	0.413991	0.48344	N	0.328904914058956	0.57636	3.931835	0.250780281641342	0.52693	3.442532	0.999999999895008	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.36	2.53	0.29594	1.961000	0.40056	5.022000	0.46754	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.338:0.0:0.662:0.0	7.697	0.27764	548	0.72362	Sema domain|Sema domain;Sema 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	.	.	.	.	.	.	.	.	0.05	1290.43	35	chr3	129586630	.	G	C	1290.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.458;DP=454;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-1.072;SOR=0.653	GT:AD:DP:GQ:PL	0/1:78,53:131:99:1302,0,2028	9	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	.	.	.	.	.	.	.	.	0.2857	1438.56	46	chr3	130421335	.	G	A	1438.56	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.907;DP=433;ExcessHet=8.3924;FS=407.622;InbreedingCoeff=-0.7391;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=4.31;ReadPosRankSum=0.501;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,22:66:99:0|1:130421335_G_A:466,0,1402:130421335	3	0	4	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	1438.09	47	chr3	130421337	.	T	C	1438.09	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.036;DP=426;ExcessHet=8.3924;FS=409.477;InbreedingCoeff=-0.7391;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=0.651;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,22:66:99:0|1:130421335_G_A:466,0,1402:130421335	1	0	6	3
chr3	133947398	133947398	T	C	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon9:c.A1153G:p.I385V	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0135174260585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.287e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06992	T	0.278	0.32022	B	0.214	0.37471	B	0.000082	0.51296	D	0.172856	0.998569	0.45092	D	1.025	0.25523	L	0.34	0.58176	T	-0.08	0.09297	N	0.286	0.32370	-1.0337	0.19268	T	0.088	0.33913	T	10	0.1741527	0.32279	T	0.013517	0.32986	T	0.103	0.29403	0.552	0.66856	0.456368778954	0.45261	0.17417772395812692	0.17336	0.180607798138	0.20310	0.483463734388	0.36534	T	0.058665	0.30903	T	-0.178178	0.24006	T	-0.493717	0.23001	T	0.238408386707306	0.22346	T	0.763624	0.39028	T	0.072592154	0.16160	0.090469114	0.21215	0.072592154	0.16159	0.090469114	0.21214	-2.945	0.09600	T	0.1471760560640755	0.17034	0.085	0.18122	B	.;.	.;.	1.737092	0.22105	15.48	0.72376456997053173	0.09952	0.69810	0.34336	D	AEFDBI	0.285429	0.39806	N	-0.239153582156905	0.31538	1.769466	-0.054687819197049	0.37289	2.181248	0.999827058612655	0.43622	0.740787	0.97801	0	0.59043	0.45803	0	0.658983	0.55881	0	0.673998	0.66042	0	.	.	5.58	5.58	0.84361	1.446000	0.34701	2.941000	0.35666	-0.715000	0.03906	0.917000	0.31872	0.999000	0.35428	0.795000	0.37519	0.0:0.0:0.1413:0.8587	12.297	0.54172	713	0.56348	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	278.94	82	chr3	133947398	.	T	C	278.94	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.818;DP=688;ExcessHet=0.7463;FS=151.401;InbreedingCoeff=-0.2079;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=0.194;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,25:83:99:.:.:112,0,1188:.	7	0	3	0
chr3	140688048	140688048	G	A	exonic	TRIM42	.	nonsynonymous SNV	TRIM42:NM_152616:exon3:c.G1366A:p.G456S	.	417	1078	25	2	0	29	0.0132723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0048	0.00638978	0.0037	0.0105	0.0060	0.0001	0.0002	0.0031	0.0088	0.0028	0.0035834	554	154602	rs112034444	0.0024	0.0024	0.0024	0.0025	0.0288	0.0024	0.0023	0.0252	0.0238	0.0114	0.0064	0.0086	0	0.0002	0.0288	0.0017	0.0050	0.0030	0.0055	0.0055	0.0051	0.0059	0.0122	0.0052	0.0051	0.0107	0.0102	0.0103	0	0.0122	0.0084	0	9.439e-05	0.0408	0.0022	0.0085	0.0021	0.455	0.08865	T	0.525	0.10281	T	0.999	0.77913	D	0.818	0.58969	P	0.001630	0.38439	N	0.184523	0.832758	0.34943	D	1.43	0.35840	L	1.23	0.36872	T	0.56	0.02680	N	0.467	0.50327	-1.0851	0.06389	T	0.047	0.20116	T	10	0.0067242086	0.00153	T	.	.	.	0.186	0.46104	.	.	0.455265801863	0.45150	0.5165162350994309	0.51574	0.304077983774	0.32727	0.438456535339	0.30367	T	2.65E-4	0.00060	T	-0.387759	0.02781	T	-0.321804	0.42377	T	0.0360879731912394	0.02997	T	0.817618	0.47476	T	0.05190391	0.09602	0.087241255	0.20267	0.05190391	0.09601	0.087241255	0.20266	-2.38	0.05012	T	.	.	0.152	0.33619	B	.	.	2.876104	0.38048	20.6	0.95045804973693093	0.26056	0.82503	0.41721	D	AEFDI	0.166689	0.29330	N	0.24189076939408	0.53240	3.493742	0.25163332949671	0.52742	3.447057	0.00190099085466403	0.08984	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	4.75	0.59954	2.651000	0.46338	8.629000	0.77845	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.018000	0.11154	0.0915:0.0:0.9085:0.0	9.795	0.39896	549	0.72275	COS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.038268	0.065657	0.055707	0.032164	0.000000	0.034483	0.009146	0.026515	0.05	2260.43	35	chr3	140688048	.	G	A	2260.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.811;DP=519;ExcessHet=0;FS=0.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.031;SOR=0.639	GT:AD:DP:GQ:PL	0/1:95,88:183:99:2272,0,2335	9	0	1	0
chr3	146593988	146593988	G	A	exonic	PLSCR5	.	stopgain	PLSCR5:NM_001085420:exon4:c.C385T:p.R129X,PLSCR5:NM_001321245:exon4:c.C349T:p.R117X	.	430	1070	21	1	0	23	0.0106334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00239617	0.0015	0.0001	0.0017	0	0	0.0007	0.0045	0.0064	0.0013519	209	154602	rs182408490	0.0008	0.0008	0.0006	0.0010	0.0066	0.0007	0.0007	0.0055	0.0053	0.0002	0.0015	0.0002	2.52e-05	0.0003	0.0066	0.0003	0.0017	0.0059	0.0007	0.0007	0.0006	0.0008	0.0075	0.0006	0.0006	0.0056	0.0049	9.636e-05	0	0.0016	0.0009	0	0	0.0102	0.0006	0	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.074	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296981	0.82723	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	8.835174	0.98089	38	0.99838237944328934	0.91886	0.97426	0.74675	D	AEFI	0.158187	0.28381	N	0.751397290095938	0.82997	7.902815	0.596829152603664	0.74710	6.183835	0.999999996134232	0.74766	0.568482	0.32641	0	0.573078	0.20572	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	3.291000	0.51470	3.296000	0.37344	0.676000	0.76740	0.970000	0.34288	0.985000	0.30750	0.927000	0.46353	0.0:0.0:1.0:0.0	19.822	0.96595	905	0.23532	.;.;.	.	.	.	.	.	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	0.006042	0.000000	0.004076	0.000000	0.000000	0.008621	0.012195	0.011364	0.05	953.43	42	chr3	146593988	.	G	A	953.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.377;DP=387;ExcessHet=0;FS=0.989;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.595;SOR=0.511	GT:AD:DP:GQ:PL	0/1:25,41:66:99:965,0,592	9	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	.	.	.	.	.	.	.	.	0.3333	1833.49	139	chr3	155853645	.	G	C	1833.49	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-3.101;DP=1064;ExcessHet=4.5998;FS=169.181;InbreedingCoeff=-0.4661;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.03;ReadPosRankSum=1.44;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,36:133:99:.:.:510,0,2809:.	3	0	6	1
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C,VEPH1:NM_001167912:exon7:c.C1016G:p.S339C,VEPH1:NM_024621:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	745.48	33	chr3	157381267	.	G	C	745.48	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-7.313;DP=1275;ExcessHet=0;FS=104.512;InbreedingCoeff=-0.1772;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.06;ReadPosRankSum=2.36;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,37:244:99:0|1:157381267_G_C:754,0,8362:157381267	5	0	1	4
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L,VEPH1:NM_001167912:exon7:c.C1014G:p.F338L,VEPH1:NM_024621:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	739.47	33	chr3	157381269	.	G	C	739.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-8.351;DP=1309;ExcessHet=0;FS=103.381;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=2.33;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,37:246:99:0|1:157381267_G_C:748,0,8446:157381267	5	0	1	4
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1008_1011del:p.T337Sfs*15,VEPH1:NM_001167912:exon7:c.1008_1011del:p.T337Sfs*15,VEPH1:NM_024621:exon7:c.1008_1011del:p.T337Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	1.363e-06	2.754e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	814.39	33	chr3	157381271	.	AGGTG	A	814.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.792;DP=1694;ExcessHet=0;FS=90.568;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.5;ReadPosRankSum=1.59;SOR=6.043	GT:AD:DP:GQ:PL	0/1:194,39:235:99:826,0,8216	9	0	1	0
chr3	157381275	157381275	-	CCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1007_1008insGGGG:p.D336Efs*27,VEPH1:NM_001167912:exon7:c.1007_1008insGGGG:p.D336Efs*27,VEPH1:NM_024621:exon7:c.1007_1008insGGGG:p.D336Efs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	842.35	182	chr3	157381275	.	G	GCCCC	842.35	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.304;DP=1192;ExcessHet=0;FS=102.297;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.82;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,39:234:99:0|1:157381267_G_C:850,0,7958:157381267	4	0	1	5
chr3	170390318	170390318	G	A	exonic	SKIL	.	nonsynonymous SNV	SKIL:NM_001145097:exon4:c.G1387A:p.V463I,SKIL:NM_001248008:exon4:c.G1525A:p.V509I,SKIL:NM_005414:exon5:c.G1525A:p.V509I,SKIL:NM_001145098:exon6:c.G1465A:p.V489I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	.	0.00858626	0.0060	9.614e-05	0.0003	0.0001	0	1.498e-05	0.0033	0.0434	0.005084	786	154602	rs555227200	0.0026	0.0026	0.0014	0.0039	0.0423	0.0026	0.0025	0.0412	0.0407	8.961e-05	6.708e-05	0	7.558e-05	0	0.0026	9.892e-06	0.0025	0.0423	0.0014	0.0014	0.0007	0.0022	0.0439	0.0013	0.0012	0.0391	0.0372	9.633e-05	0	6.543e-05	0	0	0	0.0034	2.941e-05	0	0.0439	0.227	0.52492	T	0.459	0.13103	T	0.008	0.18677	B	0.022	0.22909	B	0.436475	0.12682	N	0.764973	1	0.08975	N	0	0.06538	N	-2.74	0.90735	D	-0.23	0.10656	N	0.086	0.10483	-0.5143	0.68128	T	0.493	0.80757	T	10	0.0030667186	0.00051	T	.	.	.	0.239	0.54358	0.4	0.42917	0.826835386655	0.82519	0.04690176099306565	0.04633	0.149256190456	0.16829	0.295313179493	0.09703	T	0.274296	0.64678	T	-0.429866	0.01485	T	-0.357392	0.38353	T	0.0300697229585	0.02001	T	0.657134	0.27986	T	0.03594847	0.04328	0.043122385	0.05293	0.03594847	0.04328	0.043122385	0.05293	-4.403	0.31084	T	.	.	0.087	0.16363	B	.;.;.;.	.;.;.;.	1.545064	0.19810	14.45	0.92811412567743035	0.22337	0.19403	0.20647	N	AEFBI	0.056160	0.10360	N	-0.630599898754659	0.18030	0.9327873	-0.542562058118746	0.21003	1.134198	0.980502808707806	0.30144	0.706548	0.73137	0	0.614415	0.52539	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	2.254000	0.42868	8.501000	0.77359	0.604000	0.46097	0.028000	0.20300	1.000000	0.68203	0.006000	0.07323	0.0763:0.0:0.9237:0.0	12.614	0.55923	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	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.011364	0.05	2343.43	33	chr3	170390318	.	G	A	2343.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.334;DP=494;ExcessHet=0;FS=1.851;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.637;SOR=0.838	GT:AD:DP:GQ:PL	0/1:88,93:181:99:2355,0,2295	9	0	1	0
chr3	184038160	184038160	T	C	exonic	HTR3D	.	nonsynonymous SNV	HTR3D:NM_182537:exon4:c.T281C:p.V94A,HTR3D:NM_001145143:exon6:c.T656C:p.V219A,HTR3D:NM_001163646:exon6:c.T800C:p.V267A	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	0.103259138762	0.0012	0.000599042	0.0011	0.0006	0.0003	0.0001	0	0.0018	0.0033	6.057e-05	0.0010414	161	154602	rs140918539	0.0013	0.0013	0.0013	0.0013	0.0158	0.0013	0.0013	0.0132	0.0122	0.0007	0.0004	0.0064	2.519e-05	3.744e-05	0.0158	0.0014	0.0019	0.0002	0.0013	0.0013	0.0013	0.0012	0.0016	0.0011	0.0011	0.0013	0.0012	0.0010	0	0.0005	0.0078	0	0	0.0204	0.0016	0.0009	0.0002	0.002	0.78490	D	0.004	0.76473	D	0.181	0.53761	B	0.234	0.57175	B	0.000235	0.47286	D	0.085968	0.967287	0.26710	N	1.735	0.44892	L	-2.36	0.88143	D	-2.16	0.50502	N	0.367	0.42345	0.014	0.82531	D	0.690	0.89305	D	10	0.011143684	0.00245	T	0.103259	0.77719	D	0.370	0.68930	.	.	0.814455882331	0.81271	0.13543462610388268	0.13467	0.47388134573	0.46591	.	.	.	0.389313	0.74977	T	-0.251895	0.13867	T	-0.159234	0.58420	T	0.0993764028687915	0.12288	T	0.828517	0.56452	T	0.42431134	0.62378	0.37596616	0.62729	0.42431134	0.62378	0.37596616	0.62729	-7.115	0.59070	T	.	.	0.263	0.54477	B	.;.;.;.	.;.;.;.	2.602154	0.33775	19.44	0.92679155893934784	0.22164	0.92035	0.54801	D	AEFDGBHCI	0.686287	0.64801	D	-0.0653186347412493	0.38920	2.287073	-0.144769541592615	0.33610	1.924366	0.999904356209832	0.45458	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	3.22	3.22	0.36041	7.098000	0.76628	1.964000	0.29952	0.601000	0.45875	1.000000	0.71638	0.080000	0.22369	0.134000	0.19723	0.0:0.0:0.0:1.0	9.811	0.39990	238	0.90711	Neurotransmitter-gated ion-channel transmembrane domain;.;Neurotransmitter-gated ion-channel 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	0.007553	0.005051	0.005435	0.020468	0.000000	0.034483	0.000000	0.000000	0.05	2731.43	73	chr3	184038160	.	T	C	2731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.62;DP=680;ExcessHet=0;FS=1.121;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=0.688;SOR=0.593	GT:AD:DP:GQ:PL	0/1:97,98:195:99:2743,0,2467	9	0	1	0
chr3	184373566	184373566	T	C	exonic	THPO	.	nonsynonymous SNV	THPO:NM_000460:exon5:c.A245G:p.Q82R,THPO:NM_001177597:exon5:c.A245G:p.Q82R,THPO:NM_001177598:exon5:c.A245G:p.Q82R,THPO:NM_001289997:exon5:c.A245G:p.Q82R,THPO:NM_001290028:exon5:c.A245G:p.Q82R,THPO:NM_001289998:exon6:c.A245G:p.Q82R,THPO:NM_001290003:exon6:c.A665G:p.Q222R,THPO:NM_001290022:exon6:c.A245G:p.Q82R,THPO:NM_001290026:exon6:c.A245G:p.Q82R,THPO:NM_001290027:exon6:c.A245G:p.Q82R	Thrombocythemia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	3747135	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.230	0.0204917984351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1038963770	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.26740	T	0.0	0.92824	D	0.996	0.68779	D	0.994	0.82059	D	0.011396	0.29550	N	0.159467	0.621535	0.81001	D	2.015	0.55033	M	0.87	0.46412	T	-2.7	0.57599	D	0.304	0.34336	-0.9503	0.40920	T	0.136	0.45145	T	10	0.79611075	0.79085	D	0.020492	0.43095	T	0.230	0.53062	0.853	0.95376	0.727570700033	0.72515	0.4950103823960129	0.49422	0.362069930752	0.37861	0.507831692696	0.39919	T	0.279351	0.65203	T	-0.163696	0.26194	T	-0.376061	0.36182	T	0.753995656967163	0.43509	D	0.741926	0.36121	T	0.5855984	0.71913	0.5287169	0.72770	0.5855984	0.71914	0.5287169	0.72771	-3.319	0.13984	T	0.6183747465141616	0.68652	0.115	0.24566	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.471242	0.48428	22.6	0.99783272448623628	0.86955	0.58846	0.30753	D	AEFDGBCI	0.358444	0.44912	N	0.16101229853096	0.49335	3.135028	0.217168036540244	0.50800	3.268277	0.999999984682268	0.74766	0.623552	0.39893	0	0.563428	0.19063	0	0.667671	0.60360	0	0.530356	0.10902	0	.	.	4.92	4.92	0.64147	1.694000	0.37371	5.025000	0.46778	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	10.980	0.46702	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	.	.	.	.	.	.	.	.	0.05	1588.43	38	chr3	184373566	.	T	C	1588.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.556;DP=503;ExcessHet=0;FS=1.333;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.442;SOR=0.825	GT:AD:DP:GQ:PL	0/1:73,71:144:99:1600,0,1854	9	0	1	0
chr3	184711345	184711345	-	TCCTCCTCC	exonic	MAGEF1	.	nonframeshift insertion	MAGEF1:NM_022149:exon1:c.476_477insGGAGGAGGA:p.E158_D159insEEE	.	415	229	448	423	7	1301	0.738584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.955e-05	0	0	0	0	1.551e-05	0	0.0004	4.53e-05	7	154602	rs34995413	4.093e-05	4.173e-05	3.233e-05	4.96e-05	0.0003	3.211e-05	2.936e-05	0.0002	0.0002	3.03e-05	0	0	0	0	0	2.513e-05	1.696e-05	0.0003	3.323e-05	3.287e-05	0	6.811e-05	0.0004	1.272e-05	8.06e-06	7.409e-05	3.073e-05	0	0	0	0	0	0	0	4.445e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	30544.6	104	chr3	184711345	.	A	ATCCTCCTCC	30544.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.466;DP=1122;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=34.05;ReadPosRankSum=0.132;SOR=0.68	GT:AD:DP:GQ:PL	0/1:0,50:95:99:4344,1880,1693	9	0	1	0
chr3	194360766	194360766	G	A	exonic	LRRC15	.	nonsynonymous SNV	LRRC15:NM_130830:exon2:c.C278T:p.T93M,LRRC15:NM_001135057:exon3:c.C296T:p.T99M	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0117850863578	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs557586131	1.915e-05	1.915e-05	2.178e-05	1.65e-05	0.0002	1.328e-05	1.144e-05	9.75e-05	6.95e-05	0.0002	0	0	2.519e-05	0	0.0002	1.259e-05	1.656e-05	4.637e-05	3.284e-05	3.283e-05	1.284e-05	5.379e-05	9.646e-05	1.261e-05	7.98e-06	3.248e-05	1.914e-05	9.646e-05	0	0	0	0	0	0	1.47e-05	0	0	0.118	0.28148	T	0.136	0.34009	T	0.002	0.09854	B	0.003	0.08700	B	0.737765	0.09801	N	0.885835	1	0.08975	N	0.95	0.23787	L	0.38	0.57575	T	-0.69	0.19720	N	0.055	0.02658	-0.9880	0.33102	T	0.124	0.42862	T	10	0.10286367	0.18878	T	0.011785	0.29743	T	0.017	0.02790	0.36	0.36385	0.768906017452	0.76679	0.23420640681954846	0.23335	.	.	0.287322878838	0.08533	T	0.069656	0.33763	T	-0.398365	0.02373	T	-0.607346	0.12202	T	0.0186094921082258	0.00575	T	0.133787	0.01059	T	0.019070014	0.00432	0.037785195	0.03506	0.019070014	0.00431	0.037785195	0.03506	-4.903	0.37399	T	.	.	0.059	0.01859	B	.;.	.;.	1.356441	0.17649	13.29	0.8867566903935743	0.18165	0.12714	0.17436	N	AEFDGBI	0.027692	0.02306	N	-0.78411433949171	0.13723	0.6781435	-0.735217789351178	0.16087	0.849296	0.385234303880265	0.19996	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.8	2.34	0.28071	0.449000	0.21459	4.621000	0.44076	-0.638000	0.04459	0.158000	0.23769	1.000000	0.68203	0.009000	0.08673	0.4335:0.2782:0.2883:0.0	5.407	0.15628	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	.	.	.	.	.	.	.	.	0.05	1709.43	34	chr3	194360766	.	G	A	1709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.91;DP=701;ExcessHet=0;FS=2.782;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.023;SOR=0.783	GT:AD:DP:GQ:PL	0/1:98,67:165:99:1721,0,2364	9	0	1	0
chr3	195778917	195778917	G	0	exonic	MUC4	.	.	.	.	505	587	363	23	44	453	0.25837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	6257.75	303	chr3	195778917	.	G	*	6257.75	.	AC=4;AF=0.286;AN=14;BaseQRankSum=5.28;DP=4148;ExcessHet=0.1398;FS=2.47;InbreedingCoeff=0.1246;MLEAC=5;MLEAF=0.357;MQ=56.28;MQRankSum=1.44;QD=3.81;ReadPosRankSum=3.97;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:296,125:426:99:.:.:3036,0,11103:.	3	0	4	3
chr3	195783310	195783357	TCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.8223_8270del:p.E2741_T2756del	.	427	1078	1	0	16	17	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.675e-06	4.465e-05	5.853e-06	7.52e-06	1.296e-05	3.14e-06	2.28e-06	2.79e-06	1.79e-06	0	0	0	0	0	0	6.708e-06	1.805e-05	1.296e-05	2.174e-05	0.0001	4.245e-05	0	0.0002	5.78e-06	2.6e-06	.	.	2.64e-05	0	0	0	0	0	0	1.635e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	251.01	401	chr3	195783309	.	GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC	G	251.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.927;DP=2425;ExcessHet=0;FS=1.752;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=52.73;MQRankSum=-4.653;QD=1.5;ReadPosRankSum=-2.545;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,17:167:99:0|1:195783309_GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC_G:262,0,6239:195783309	8	0	1	1
chr3	195783319	195783367	GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA	0	exonic	MUC4	.	.	.	.	432	1069	2	0	19	21	0.000934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1349.57	401	chr3	195783319	.	GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA	*	1349.57	.	AC=1;AF=0.056;AN=18;DP=2412;ExcessHet=0;FS=19.687;InbreedingCoeff=0.4805;MLEAC=1;MLEAF=0.056;MQ=52.81;QD=6.71;SOR=1.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,17:167:99:0|1:195783309_GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC_G:262,0,6239:195783309	8	0	1	1
chr3	195783321	195783321	A	0	exonic	MUC4	.	.	.	.	442	1046	17	2	15	36	0.00993848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2019.83	399	chr3	195783321	.	A	*	2019.83	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.633;DP=2468;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.1222;MLEAC=4;MLEAF=0.286;MQ=56.98;MQRankSum=1.48;QD=3.37;ReadPosRankSum=-0.792;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,17:167:99:0|1:195783309_GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC_G:262,0,6239:195783309	5	1	1	3
chr3	195783323	195783323	G	0	exonic	MUC4	.	.	.	.	0	218	3	0	5	8	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2118.83	391	chr3	195783323	.	G	*	2118.83	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-4.523;DP=2447;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.1222;MLEAC=4;MLEAF=0.286;MQ=57;MQRankSum=1.65;QD=3.52;ReadPosRankSum=0.527;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,17:167:99:0|1:195783309_GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC_G:262,0,6239:195783309	5	1	1	3
chr3	195783326	195783470	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	0	exonic	MUC4	.	.	.	.	434	1017	25	28	18	99	0.0382979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	8237.56	269	chr3	195783326	.	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	*	8237.56	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.756;DP=2068;ExcessHet=0;FS=2.648;InbreedingCoeff=0.7802;MLEAC=3;MLEAF=0.15;MQ=53.96;MQRankSum=0.175;QD=16.85;ReadPosRankSum=4.44;SOR=0.921	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,17:124:99:1|0:195783309_GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC_G:3006,2463,4434:195783309	8	1	1	0
chr3	195783332	195783332	T	0	exonic	MUC4	.	.	.	.	445	998	16	0	63	79	0.00795229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2590.63	269	chr3	195783332	.	T	*	2590.63	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.628;DP=2091;ExcessHet=0.0072;FS=7.129;InbreedingCoeff=0.5833;MLEAC=7;MLEAF=0.35;MQ=53.41;MQRankSum=-3.165;QD=3.64;ReadPosRankSum=5.36;SOR=1.16	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,107:124:99:1|1:195783309_GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC_G:2614,222,0:195783309	6	3	1	0
chr3	195783335	195783335	C	0	exonic	MUC4	.	.	.	.	452	969	39	0	62	101	0.0197269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2541.63	269	chr3	195783335	.	C	*	2541.63	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.946;DP=2053;ExcessHet=0.0072;FS=7.183;InbreedingCoeff=0.5833;MLEAC=7;MLEAF=0.35;MQ=52.66;MQRankSum=-2.923;QD=3.62;ReadPosRankSum=5.65;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,107:124:99:1|1:195783309_GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC_G:2614,222,0:195783309	6	3	1	0
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	6741.53	262	chr3	195783346	.	A	*	6741.53	.	AC=7;AF=0.583;AN=12;BaseQRankSum=1.81;DP=1982;ExcessHet=0;FS=0;InbreedingCoeff=0.6581;MLEAC=9;MLEAF=0.75;MQ=54.66;MQRankSum=1.23;QD=8.5;ReadPosRankSum=1.52;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,107:124:99:1|1:195783309_GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC_G:2614,222,0:195783309	2	3	1	4
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5030.64	228	chr3	195783357	.	C	*	5030.64	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.25;DP=1743;ExcessHet=0;FS=1.363;InbreedingCoeff=0.4453;MLEAC=8;MLEAF=0.667;MQ=48.74;MQRankSum=1.28;QD=9.62;ReadPosRankSum=-3.531;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,107:124:99:1|1:195783309_GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC_G:2614,222,0:195783309	3	3	0	4
chr3	195783367	195783367	A	0	exonic	MUC4	.	.	.	.	717	615	72	57	61	247	0.131356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	3934.46	203	chr3	195783367	.	A	*	3934.46	.	AC=6;AF=0.6;AN=10;BaseQRankSum=4.29;DP=1517;ExcessHet=0;FS=0.846;InbreedingCoeff=0.3056;MLEAC=8;MLEAF=0.8;MQ=45.95;MQRankSum=-0.796;QD=8.1;ReadPosRankSum=-3.365;SOR=0.568	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,107:124:99:1|1:195783309_GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC_G:2614,222,0:195783309	2	3	0	5
chr3	195783375	195783375	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	106.86	184	chr3	195783375	.	G	*	106.86	.	AC=6;AF=0.333;AN=18;BaseQRankSum=0.126;DP=1427;ExcessHet=0;FS=5.516;InbreedingCoeff=0.7222;MLEAC=6;MLEAF=0.333;MQ=35.23;MQRankSum=0.385;QD=0.34;ReadPosRankSum=-1.036;SOR=0.132	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,107:124:99:1|1:195783309_GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC_G:2614,222,0:195783309	6	3	0	1
chr3	195783379	195783379	G	0	exonic	MUC4	.	.	.	.	3	172	18	18	15	69	0.135678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2039.5	184	chr3	195783379	.	G	*	2039.5	.	AC=6;AF=0.333;AN=18;DP=1416;ExcessHet=0;FS=0;InbreedingCoeff=0.9208;MLEAC=6;MLEAF=0.333;MQ=45.73;QD=5.63;SOR=1.327	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,107:124:99:1|1:195783309_GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC_G:2614,222,0:195783309	6	3	0	1
chr3	195783380	195783380	T	0	exonic	MUC4	.	.	.	.	765	698	30	28	1	87	0.0580297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	483.38	186	chr3	195783380	.	T	*	483.38	.	AC=5;AF=0.417;AN=12;BaseQRankSum=4.23;DP=1385;ExcessHet=0.0125;FS=6.151;InbreedingCoeff=0.2314;MLEAC=6;MLEAF=0.5;MQ=47.62;MQRankSum=0.566;QD=1.21;ReadPosRankSum=-1.068;SOR=0.304	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,102:111:71:0|1:195783309_GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC_G:2674,288,71:195783309	3	2	1	4
chr3	195783383	195783383	C	0	exonic	MUC4	.	.	.	.	697	686	76	62	1	201	0.127226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	269.64	183	chr3	195783383	.	C	*	269.64	.	AC=7;AF=0.583;AN=12;BaseQRankSum=4.08;DP=1386;ExcessHet=0.0125;FS=5.095;InbreedingCoeff=0.1822;MLEAC=9;MLEAF=0.75;MQ=47.74;MQRankSum=0.566;QD=0.61;ReadPosRankSum=-0.842;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,102:110:29:0|1:195783309_GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC_G:2632,246,29:195783309	2	3	1	4
chr3	195783896	195783896	-	AAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7683_7684insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.L2561_P2562insSVTDTSSVSTGHATPLHVTSPSSASTGHATPL,MUC4:NM_001322468:exon7:c.7635_7636insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.S2547_A4615delinsVTDTSSVSTGHATPLHVTSPSSASTGHATPLSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0029	0.0045	0	0	0.0049	0.0090	0.0027	0.0004916	76	154602	.	0.0040	0.0071	0.0039	0.0042	0.0239	0.0039	0.0039	0.0196	0.0180	0.0026	0.0060	0.0070	0	0.0071	0.0239	0.0037	0.0065	0.0041	0.0018	0.0063	0.0021	0.0015	0.0024	0.0016	0.0015	0.0021	0.0020	0.0010	0.0026	0.0024	0.0003	0	0.0015	0	0.0024	0.0012	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	27926.1	463	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	27926.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.176;DP=5220;ExcessHet=2.8389;FS=0.604;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=54.7;MQRankSum=-5.849;QD=15.1;ReadPosRankSum=-8.49;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,131:298:99:1|0:195783861_G_A:3637,0,5533:195783861	5	0	5	0
chr3	195784162	195784162	-	CTGAGGAAGCGTCGGTGCCAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7417_7418insCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGGCACCGACGCTTCCTCAG:p.S2472_V2473insASTGHATPLPVTSTSSASTGDTTPLPGTDASS,MUC4:NM_001322468:exon7:c.7369_7370insCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGGCACCGACGCTTCCTCAG:p.L2458_A4615delinsSTGHATPLPVTSTSSASTGDTTPLPGTDASSALPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.796e-05	8.142e-05	2.984e-05	2.603e-05	0.0002	2.063e-05	1.801e-05	6.242e-05	4.052e-05	7.898e-05	0.0002	8.915e-05	0	4.231e-05	0.0002	1.549e-05	9.42e-05	5.299e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1731.39	733	chr3	195784162	.	A	ACTGAGGAAGCGTCGGTGCCAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATG	1731.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.209;DP=5489;ExcessHet=0;FS=4.919;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.35;MQRankSum=-9.212;QD=6.37;ReadPosRankSum=-2.042;SOR=0.87	GT:AD:DP:GQ:PL	0/1:167,105:274:99:1743,0,5914	9	0	1	0
chr3	195786527	195786527	-	GGTGACAGGAAGAGGGGTGGCGTGTCCTGTGGATACTGAGGAATTGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCTGAGAAAGTGCT	exonic;splicing	MUC4;MUC4	NM_001322468:exon5:c.5051+2->AGCACTTTCTCAGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACAATTCCTCAGTATCCACAGGACACGCCACCCCTCTTCCTGTCACC	nonframeshift insertion	MUC4:NM_018406:exon2:c.5052_5053insAGCACTTTCTCAGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACAATTCCTCAGTATCCACAGGACACGCCACCCCTCTTCCTGTCACC:p.T1684_G1685insSTFSASTGHATPLPVTDNSSVSTGHATPLPVT,MUC4:NM_001322468:exon6:c.5052_5053insAGCACTTTCTCAGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACAATTCCTCAGTATCCACAGGACACGCCACCCCTCTTCCTGTCACC:p.G1685_A4615delinsSTFSASTGHATPLPVTDNSSVSTGHATPLPVTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.504e-06	5.242e-06	1.647e-06	3.384e-06	3.242e-06	6.7e-07	1.9e-07	8.6e-07	2.4e-07	0	0	0	0	0	0	3.242e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	20489.4	323	chr3	195786527	.	C	CGGTGACAGGAAGAGGGGTGGCGTGTCCTGTGGATACTGAGGAATTGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCTGAGAAAGTGCT	20489.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.742;DP=4871;ExcessHet=7.0302;FS=1.39;InbreedingCoeff=-0.5385;MLEAC=1;MLEAF=0.05;MQ=54.57;MQRankSum=-7.47;QD=12.29;ReadPosRankSum=-4.423;SOR=0.799	GT:AD:DP:GQ:PL	0/1:322,15:339:99:898,0,9801	9	0	1	0
chr3	195787220	195787224	TGTGA	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.4356_4360del:p.T1454Pfs*30,MUC4:NM_001322468:exon5:c.4356_4360del:p.T1453Hfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	rs780499376	5.497e-05	0.0005	4.775e-05	6.154e-05	0.0004	3.854e-05	3.331e-05	0.0001	7.193e-05	0.0004	0	6.827e-05	0	0	0	6.96e-05	0	1.93e-05	0	0.0012	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	70.23	13	chr3	195787219	.	GTGTGA	G	70.23	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.41;DP=134;ExcessHet=0.2348;FS=5.192;InbreedingCoeff=-0.117;MLEAC=2;MLEAF=0.1;MQ=38.66;MQRankSum=0.785;QD=1.85;ReadPosRankSum=-0.778;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,2:25:36:0|1:195787173_C_A:36,0,451:195787173	8	0	2	0
chr3	195787220	195787220	T	0	exonic	MUC4	.	.	.	.	716	790	14	0	2	16	0.00878294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	97.35	13	chr3	195787220	.	T	*	97.35	.	AC=2;AF=0.111;AN=18;BaseQRankSum=0.484;DP=136;ExcessHet=0.8432;FS=7.592;InbreedingCoeff=-0.2142;MLEAC=2;MLEAF=0.111;MQ=37.83;MQRankSum=0.605;QD=1.95;ReadPosRankSum=-2.189;SOR=2.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,2:25:36:0|1:195787173_C_A:36,0,451:195787173	7	0	2	1
chr3	195787221	195787221	G	0	exonic	MUC4	.	.	.	.	710	796	14	0	2	16	0.00871731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	99.34	13	chr3	195787221	.	G	*	99.34	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.2;DP=134;ExcessHet=0.8432;FS=7.731;InbreedingCoeff=-0.2142;MLEAC=2;MLEAF=0.111;MQ=37.38;MQRankSum=0.728;QD=2.07;ReadPosRankSum=-2.189;SOR=2.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,2:25:36:0|1:195787173_C_A:36,0,451:195787173	7	0	2	1
chr3	196948448	196948448	G	A	exonic	PIGZ	.	nonsynonymous SNV	PIGZ:NM_025163:exon3:c.C449T:p.P150L	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0002	0.00798722	0.0027	0.0001	0.0002	0.0220	0	4.624e-05	0	0.0075	0.0025161	389	154602	rs75314175	0.0013	0.0013	0.0012	0.0015	0.0278	0.0013	0.0013	0.0264	0.0259	8.961e-05	0.0002	0	0.0278	0	0.0005	7.914e-05	0.0016	0.0075	0.0012	0.0013	0.0011	0.0014	0.0247	0.0011	0.0010	0.0212	0.0199	0.0002	0	0.0007	0	0.0247	0	0	0.0001	0.0009	0.0072	0.966	0.02070	T	0.769	0.04492	T	0.0	0.02946	B	0.001	0.04355	B	0.263799	0.15262	N	0.534734	1	0.18612	N	-2.075	0.00166	N	0.18	0.60361	T	2.04	0.00388	N	0.044	0.01658	-1.0008	0.29688	T	0.013	0.05129	T	10	0.002756685	0.00043	T	.	.	.	0.061	0.17616	.	.	0.362361684037	0.35846	0.11748832415957511	0.11676	0.127361370349	0.14354	0.301235377789	0.10584	T	0.001209	0.00701	T	-0.643389	0.00079	T	-0.682024	0.06860	T	0.00767491012867851	0.00089	T	0.121488	0.00940	T	0.026495904	0.01714	0.03658137	0.03134	0.026495904	0.01713	0.03658137	0.03134	-1.702	0.02234	T	.	.	0.057	0.00563	B	.	.	-0.406378	0.02190	0.216	0.81154015780439503	0.13545	0.03598	0.08824	N	AEFDGBHCI	.	.	.	-1.70104703746559	0.00838	0.03624282	-1.65807512292433	0.01334	0.06023607	0.999999999982899	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.505578	0.09266	0	0.638833	0.57524	0	.	.	5.25	-4.74	0.03013	-0.343000	0.07838	0.747000	0.21206	-0.051000	0.17024	0.000000	0.06391	0.001000	0.17328	0.274000	0.23868	0.2346:0.541:0.1245:0.0999	5.876	0.18076	650	0.62973	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2050.43	50	chr3	196948448	.	G	A	2050.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.529;DP=561;ExcessHet=0;FS=1.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=1.05;SOR=0.802	GT:AD:DP:GQ:PL	0/1:65,77:142:99:2062,0,1592	9	0	1	0
chr3	197017123	197017123	G	A	exonic	MELTF	.	nonsynonymous SNV	MELTF:NM_005929:exon7:c.C880T:p.R294W	.	411	1087	24	0	0	24	0.010919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	0.0018	0.0283546	0.0208	0.0013	0.0509	0.0581	0.0005	0.0024	0.0198	0.0754	0.0156854	2425	154602	rs2276790	0.0078	0.0079	0.0063	0.0093	0.0634	0.0077	0.0077	0.0620	0.0614	0.0010	0.0336	0.0112	0.0504	0.0003	0.0029	0.0014	0.0102	0.0634	0.0071	0.0071	0.0062	0.0080	0.0615	0.0067	0.0066	0.0558	0.0535	0.0014	0	0.0176	0.0133	0.0567	0.0003	0.0034	0.0013	0.0109	0.0615	0.006	0.61437	D	0.008	0.67890	D	0.998	0.73220	D	0.809	0.58564	P	0.017625	0.27675	N	0.419477	0.997883	0.22461	N	2.495	0.72670	M	2.47	0.14783	T	-3.89	0.72820	D	0.388	0.42931	-1.1619	0.00712	T	0.014	0.05369	T	10	0.0073421896	0.00167	T	.	.	.	0.230	0.53062	.	.	.	.	0.6055100167337348	0.60482	0.69199338216	0.60632	0.250929236412	0.03866	T	0.18354	0.53591	T	-0.473058	0.00814	T	-0.404397	0.32872	T	0.0268563781333905	0.01524	T	0.89971	0.64861	D	0.48027325	0.65917	0.4018112	0.64681	0.48027325	0.65918	0.4018112	0.64681	-8.093	0.61703	D	.	.	0.093	0.13830	B	.	.	4.998958	0.82931	27.9	0.99926407414701635	0.99103	0.89370	0.49794	D	AEFBCI	0.847238	0.76409	D	0.512766042721571	0.67842	5.13614	0.480715062957765	0.66714	4.988075	0.0814494892959752	0.15873	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.69	4.81	0.61401	1.325000	0.33330	7.498000	0.59452	0.676000	0.76740	0.906000	0.31575	1.000000	0.68203	0.943000	0.48514	0.0:0.0:0.704:0.296	12.890	0.57461	677	0.60274	Transferrin-like domain|Transferrin-like domain|Transferrin-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	0.010101	0.000000	0.000000	0.002924	0.050000	0.000000	0.015337	0.030303	0.05	1354.43	34	chr3	197017123	.	G	A	1354.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=429;ExcessHet=0;FS=2.388;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=1.85;SOR=0.951	GT:AD:DP:GQ:PL	0/1:62,58:120:99:1366,0,1333	9	0	1	0
chr4	161001	161001	C	T	exonic	ZNF718	.	nonsynonymous SNV	ZNF718:NM_001039127:exon4:c.C316T:p.R106C,ZNF718:NM_001289930:exon4:c.C220T:p.R74C,ZNF718:NM_001289931:exon4:c.C220T:p.R74C	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.517e-05	0	0	0.0001	0	3.042e-05	0	0	1.94e-05	3	154602	rs368501888	1.113e-05	1.113e-05	6.988e-06	1.46e-05	0.0002	4.63e-06	2.98e-06	9.19e-06	3.44e-06	0	0	0	5.548e-05	0	0.0002	8.57e-06	0	1.433e-05	1.974e-05	1.971e-05	1.286e-05	2.695e-05	0.0004	5.25e-06	2.46e-06	6.811e-05	2.851e-05	0	0	0	0	0.0004	0	0	1.471e-05	0	0	.	.	.	0.563	0.09022	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	.	.	.	-2.77	0.00026	N	.	.	.	.	.	.	0.026	0.01911	.	.	.	.	.	.	.	0.018856376	0.00414	T	.	.	.	.	.	.	.	0.15556083564	0.15200	0.01613105926549213	0.01569	.	.	0.257985502481	0.04654	T	0.002717	0.02105	T	-0.393149	0.02566	T	-0.510359	0.21279	T	.	.	.	0.80472	0.45238	T	0.08390125	0.19395	0.055348072	0.09694	0.08390125	0.19395	0.055348072	0.09693	1.881	0.00064	T	.	.	0.090	0.17103	B	.;.	.;.	-0.766347	0.01175	0.057	0.3409630244509278	0.02067	0.00007	0.00120	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.0012824631240972	0.08410	0.156188	0.03335	0	0.084543	0.02171	0	0.231514	0.04749	0	0.092715	0.02821	0	0.0489644	0.08624	1.35	-2.7	0.05651	-0.645000	0.05506	.	.	-2.778000	0.00190	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4388:0.2021:0.3591	4.037	0.09217	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	.	.	.	.	.	.	.	.	0.05	1058.43	34	chr4	161001	.	C	T	1058.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.683;DP=404;ExcessHet=0;FS=5.075;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=1.43;SOR=0.49	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1070,0,1204	9	0	1	0
chr4	6080291	6080291	C	T	exonic	JAKMIP1	.	nonsynonymous SNV	JAKMIP1:NM_001306134:exon6:c.G628A:p.A210T,JAKMIP1:NM_001099433:exon7:c.G1123A:p.A375T,JAKMIP1:NM_001306133:exon7:c.G1123A:p.A375T,JAKMIP1:NM_144720:exon7:c.G1123A:p.A375T	.	434	1077	10	1	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00722571738236	7.7e-05	0.000199681	0.0005	0	0.0002	0	0	9.025e-05	0	0.0031	0.0004075	63	154602	rs138699844	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	8.947e-05	0	2.519e-05	0	0.0019	3.507e-05	0.0002	0.0029	0.0001	0.0001	8.991e-05	0.0001	0.0015	7.085e-05	5.742e-05	0.0007	0.0005	0	0	0	0	0	0	0.0102	0.0001	0	0.0015	0.092	0.31987	T	0.325	0.36101	T	0.004	0.30509	B	0.015	0.29395	B	0.011833	0.29386	N	0.287918	0.994168	0.23574	N	0	0.06538	N	1.91	0.31470	T	-0.77	0.25332	N	0.159	0.21710	-1.0534	0.13466	T	0.046	0.19640	T	10	0.008037627	0.00182	T	0.007226	0.19171	T	0.027	0.05988	.	.	0.261638197198	0.25763	0.1321002317582474	0.13135	0.630853255338	0.57057	0.455531328917	0.32700	T	0.037801	0.24608	T	-0.540661	0.00332	T	-0.554014	0.16943	T	0.0181557738384515	0.00537	T	0.727427	0.34191	T	0.03467473	0.03937	0.054701712	0.09458	0.03467473	0.03936	0.054701712	0.09457	-3.421	0.17153	T	0.11350665606208556	0.09941	0.079	0.07083	B	.;.;.;.;.	.;.;.;.;.	2.226791	0.28424	17.79	0.97744274823842625	0.35702	0.75837	0.37153	D	AEFBI	0.221552	0.34617	N	-0.553831344486567	0.20364	1.072944	-0.504843009408668	0.22021	1.19406	0.0115834230930867	0.12207	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.44	3.59	0.40253	0.636000	0.24333	1.013000	0.23346	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.6223:0.1866:0.1911	5.203	0.14601	988	0.01987	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1062.43	35	chr4	6080291	.	C	T	1062.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.47;DP=402;ExcessHet=0;FS=10.406;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.935;SOR=0.467	GT:AD:DP:GQ:PL	0/1:43,45:88:99:1074,0,1164	9	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	.	.	.	.	.	.	.	.	0.45	2133.02	152	chr4	6862306	.	T	C	2133.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.47;DP=1244;ExcessHet=15.1594;FS=225.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=1.2;SOR=11.543	GT:AD:DP:GQ:PL	0/1:98,34:132:99:236,0,2291	1	0	9	0
chr4	7819138	7819138	G	A	exonic	AFAP1	.	nonsynonymous SNV	AFAP1:NM_001371090:exon6:c.C760T:p.P254S,AFAP1:NM_001134647:exon7:c.C760T:p.P254S,AFAP1:NM_198595:exon7:c.C760T:p.P254S,AFAP1:NM_001371091:exon8:c.C760T:p.P254S	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.0025437755433	.	.	8.297e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs779413112	2.053e-06	2.736e-06	2.723e-06	1.376e-06	0.0005	5.5e-07	1.5e-07	0.0001	7.552e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.21066	T	0.625	0.07316	T	0.015	0.17086	B	0.005	0.11217	B	0.330087	0.14128	N	0.698379	1	0.08975	N	0.895	0.22405	L	2.56	0.13795	T	0.09	0.14782	N	0.203	0.24260	-0.9808	0.34817	T	0.017	0.06855	T	10	0.055774003	0.06147	T	0.002544	0.05093	T	0.007	0.00512	0.2	0.11384	0.0666544352282	0.05500	0.0964112601562412	0.09573	0.0904232306126	0.10200	0.341858267784	0.16716	T	0.009446	0.08603	T	-0.285748	0.10067	T	-0.648233	0.09078	T	0.0383307535885547	0.03391	T	0.706929	0.31753	T	0.016438875	0.00198	0.026389072	0.00725	0.016438875	0.00198	0.026389072	0.00725	-1.98	0.03246	T	.	.	0.067	0.03162	B	.;.;.;.	.;.;.;.	0.889475	0.12628	9.155	0.44441515528364606	0.03417	0.09127	0.14945	N	AEFDBI	0.050051	0.08709	N	-1.0827757402431	0.06961	0.3219406	-1.07892277511553	0.08116	0.3976462	0.999645466995914	0.41316	0.706548	0.73137	0	0.563428	0.19063	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.52	1.23	0.20358	0.772000	0.26309	3.025000	0.36018	-0.154000	0.11915	0.007000	0.17678	0.977000	0.30130	0.002000	0.04165	0.0802:0.2098:0.2627:0.4472	3.205	0.06265	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	.	.	.	.	.	.	.	.	0.05	1034.43	35	chr4	7819138	.	G	A	1034.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.324;DP=425;ExcessHet=0;FS=0.794;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.016;SOR=0.836	GT:AD:DP:GQ:PL	0/1:46,43:89:99:1046,0,1116	9	0	1	0
chr4	9226129	9226129	C	T	exonic	USP17L13	.	nonsynonymous SNV	USP17L13:NM_001256855:exon1:c.C1234T:p.H412Y	.	1337	175	2	8	0	18	0.048913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.842182873596	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1352095428	5.868e-05	0.0024	8.868e-05	3.5e-05	0.0007	1.557e-05	8.32e-06	0.0002	9.768e-05	0	0	0	0.0007	0	0	0	0	0	0	0.0032	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.055	0.38407	T	0.049	0.48336	D	.	.	.	.	.	.	0.058808	0.02114	U	2.375910	1	0.08975	N	0	0.06538	N	0.99	0.41750	T	-0.75	0.21003	N	0.113	0.10198	-1.0362	0.18481	T	0.057	0.24055	T	6	0.013407707	0.00284	T	0.842183	0.98780	D	0.027	0.05988	.	.	0.0482279557977	0.04254	0.005879309056523569	0.00556	.	.	0.549284934998	0.45757	T	0.023407	0.17873	T	-0.308109	0.07916	T	-0.680353	0.06962	T	0.0406788719680613	0.03814	T	0.541546	0.18382	T	0.09593988	0.22589	0.11165587	0.26935	0.09593988	0.22588	0.11165587	0.26934	-4.279	0.27881	T	.	.	0.076	0.06069	B	.;.	.;.	0.741014	0.11106	7.751	0.96431718351580964	0.29796	0.00243	0.01347	N	AEFI	0.035750	0.04652	N	-0.915193225831661	0.10487	0.501334	-1.08534414720929	0.07988	0.3908381	1.09666439460031E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.055000	0.14112	.	.	0.055000	0.17525	0.026000	0.20160	0.003000	0.18671	0.029000	0.12982	.	.	.	.	.	Hyaluronan/mRNA-binding protein;Hyaluronan/mRNA-binding protein	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	39.8	.	chr4	9226129	.	C	T	39.8	.	AC=2;AF=0.2;AN=10;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=40;QD=19.9;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	5
chr4	9226157	9226157	A	G	exonic	USP17L13	.	nonsynonymous SNV	USP17L13:NM_001256855:exon1:c.A1262G:p.D421G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.599055312477	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175330135	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.536	0.06891	T	0.768	0.05434	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	0.99	0.41750	T	-1.22	0.30964	N	0.051	0.03956	-1.0440	0.16118	T	0.034	0.14596	T	6	0.06575069	0.08918	T	0.599055	0.96463	D	0.016	0.02506	.	.	0.0611884634855	0.05136	0.018758310991436537	0.01829	.	.	0.485092431307	0.36759	T	0.010017	0.09079	T	-0.372288	0.03480	T	-0.772542	0.02686	T	0.0353665498982741	0.02870	T	0.578142	0.20837	T	0.07410182	0.16605	0.14455462	0.34315	0.07410182	0.16605	0.14455462	0.34314	-2.939	0.09538	T	.	.	0.071	0.04041	B	.;.	.;.	1.341106	0.17474	13.19	0.15104819626117053	0.00357	0.00025	0.00253	N	AEFI	0.019320	0.00660	N	-1.5249128527373	0.01687	0.07382207	-1.6877435783916	0.01192	0.05367243	5.93355805240443E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.046	-0.093	0.12988	-0.735000	0.04992	.	.	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Hyaluronan/mRNA-binding protein;Hyaluronan/mRNA-binding protein	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	39.49	.	chr4	9226157	.	A	G	39.49	.	AC=2;AF=0.2;AN=10;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=40;QD=19.75;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	5
chr4	15003544	15003544	G	T	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.G871T:p.G291C,CPEB2:NM_001177382:exon1:c.G871T:p.G291C,CPEB2:NM_001177383:exon1:c.G871T:p.G291C,CPEB2:NM_001177384:exon1:c.G871T:p.G291C,CPEB2:NM_182485:exon1:c.G871T:p.G291C,CPEB2:NM_182646:exon1:c.G871T:p.G291C	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.49066394509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	0.995894	0.23172	N	.	.	.	0.42	0.56937	T	-1.54	0.38345	N	0.196	0.27435	-1.0233	0.22638	T	0.079	0.31466	T	7	0.17611933	0.32579	T	0.490664	0.94993	D	0.023	0.04649	0.312	0.28612	0.250512400709	0.24649	0.40058756321903216	0.39973	0.338184895751	0.35792	0.868773818016	0.92392	D	.	.	.	-0.106782	0.35302	T	-0.391162	0.34415	T	0.843504011631012	0.49616	D	.	.	.	.	.	.	.	.	.	.	.	-6.052	0.47010	T	.	.	0.175	0.51592	B	.;.	.;.	3.542729	0.49765	22.8	0.99275153735101374	0.57696	0.25403	0.22688	N	AEFDBHCIJ	0.208079	0.33419	N	-0.253573131990415	0.30961	1.731397	-0.252200553237577	0.29695	1.665794	0.999999906504315	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.249971	0.05119	0	.	.	2.23	2.23	0.27189	1.453000	0.34778	6.976000	0.57108	0.465000	0.21702	0.006000	0.17386	1.000000	0.68203	0.949000	0.49496	0.1873:0.0:0.8127:0.0	4.872	0.12993	579	0.69780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2307.43	41	chr4	15003544	.	G	T	2307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.488;DP=458;ExcessHet=0;FS=2.261;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=-0.911;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,61:127:99:0|1:15003544_G_T:2319,0,2538:15003544	9	0	1	0
chr4	15003545	15003545	G	A	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.G872A:p.G291D,CPEB2:NM_001177382:exon1:c.G872A:p.G291D,CPEB2:NM_001177383:exon1:c.G872A:p.G291D,CPEB2:NM_001177384:exon1:c.G872A:p.G291D,CPEB2:NM_182485:exon1:c.G872A:p.G291D,CPEB2:NM_182646:exon1:c.G872A:p.G291D	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.428652719078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.779e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.465	0.28669	T	.	.	.	.	.	.	.	.	.	.	0.997591	0.22593	N	.	.	.	0.46	0.56281	T	-1.07	0.28703	N	0.137	0.22614	-0.9798	0.35048	T	0.094	0.35524	T	7	0.16893393	0.31473	T	0.428653	0.93937	D	0.039	0.10176	0.194	0.10571	0.372491666437	0.36864	0.4038894716943685	0.40304	0.411933081622	0.41941	0.877690434456	0.93648	D	.	.	.	-0.106938	0.35274	T	-0.391385	0.34390	T	0.707441031932831	0.41075	D	.	.	.	.	.	.	.	.	.	.	.	-4.767	0.34204	T	.	.	0.130	0.43517	B	.;.	.;.	3.250144	0.44406	21.9	0.99144971648526192	0.53655	0.19222	0.20576	N	AEFDBHCIJ	0.147924	0.27170	N	-0.247741181233483	0.31192	1.746676	-0.244493984650068	0.29962	1.682926	0.999999868095438	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.249971	0.05119	0	.	.	2.23	2.23	0.27189	0.406000	0.20754	5.920000	0.51151	0.465000	0.21702	0.002000	0.15269	1.000000	0.68203	0.949000	0.49496	0.0:0.0:1.0:0.0	10.066	0.41479	579	0.69780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2307.43	41	chr4	15003545	.	G	A	2307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.961;DP=459;ExcessHet=0;FS=2.261;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=-0.548;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,61:127:99:0|1:15003544_G_T:2319,0,2538:15003544	9	0	1	0
chr4	16006647	16006647	C	T	exonic	PROM1	.	nonsynonymous SNV	PROM1:NM_001145851:exon11:c.G1318A:p.V440M,PROM1:NM_001145847:exon12:c.G1318A:p.V440M,PROM1:NM_001145848:exon12:c.G1318A:p.V440M,PROM1:NM_001145849:exon12:c.G1345A:p.V449M,PROM1:NM_001145852:exon12:c.G1318A:p.V440M,PROM1:NM_001371406:exon12:c.G1318A:p.V440M,PROM1:NM_001371407:exon12:c.G1318A:p.V440M,PROM1:NM_001371408:exon12:c.G1318A:p.V440M,PROM1:NM_001145850:exon13:c.G1345A:p.V449M,PROM1:NM_006017:exon13:c.G1345A:p.V449M	Cone-rod dystrophy 12;Macular dystrophy, retinal, 2, Autosomal dominant;Retinitis pigmentosa 41, Autosomal recessive;Stargardt disease 4	0	1517	5	0	0	5	0.00164528	.	.	.	191235	PROM1-related_disorder|Retinal_macular_dystrophy_type_2|Cone-rod_dystrophy_12|Stargardt_disease_4|Retinitis_pigmentosa_41|not_provided|Retinitis_pigmentosa	.|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786,Orphanet:827|MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095,Orphanet:791|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.102	0.032816204975	0.0013	0.000399361	0.0015	0.0005	0.0004	0	0	0.0020	0.0028	0.0018	0.0004269	66	154602	rs200620291	0.0022	0.0022	0.0023	0.0021	0.0027	0.0022	0.0021	0.0026	0.0025	0.0008	0.0003	3.831e-05	2.522e-05	0.0001	0.0024	0.0027	0.0020	0.0011	0.0015	0.0015	0.0015	0.0014	0.0023	0.0013	0.0012	0.0020	0.0019	0.0009	0	0.0014	0	0.0002	0	0	0.0023	0.0005	0.0012	0.043	0.41364	D	0.047	0.48855	D	0.903	0.49795	P	0.313	0.41496	B	0.116885	0.19175	N	0.546048	1	0.08975	N	0.9	0.23182	L	0.64	0.52867	T	-1.23	0.31170	N	0.365	0.41557	-0.9829	0.34328	T	0.102	0.37768	T	10	0.017271727	0.00368	T	0.032816	0.54540	D	0.102	0.29158	.	.	0.436348499334	0.43257	0.22054022501264386	0.21969	0.0467116271295	0.05080	0.382918715477	0.22670	T	0.452312	0.79269	T	-0.536225	0.00353	T	-0.543034	0.18000	T	0.0134123369061345	0.00243	T	0.845915	0.52922	T	0.027034424	0.01838	0.05056698	0.07964	0.029985301	0.02585	0.05207993	0.08510	-8.046	0.61798	D	0.2828254075195298	0.37840	0.119	0.32992	B	.;.;.;.;.;.	.;.;.;.;.;.	1.948108	0.24746	16.51	0.98180487478769152	0.38941	0.14188	0.18270	N	AEFBI	0.098931	0.19924	N	-0.496831084625603	0.22184	1.182774	-0.633426874038756	0.18637	0.9964515	0.0545790915728564	0.14980	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.47	0.128	0.14034	1.118000	0.30860	0.355000	0.17517	-0.176000	0.10722	0.771000	0.29368	0.000000	0.08366	0.257000	0.23443	0.1047:0.4482:0.172:0.2752	2.597	0.04561	911	0.21964	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002520	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	1563.43	35	chr4	16006647	.	C	T	1563.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.557;DP=449;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.514;SOR=0.582	GT:AD:DP:GQ:PL	0/1:66,66:132:99:1575,0,1454	9	0	1	0
chr4	20595716	20595716	T	C	exonic	SLIT2	.	nonsynonymous SNV	SLIT2:NM_001289135:exon30:c.T3190C:p.Y1064H,SLIT2:NM_001289136:exon30:c.T3178C:p.Y1060H,SLIT2:NM_004787:exon31:c.T3202C:p.Y1068H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.849	0.335238197281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.979	0.75168	D	0.000000	0.84330	D	0.052612	1	0.81001	D	3.13	0.88074	M	-3.52	0.94729	D	-4.47	0.77881	D	0.804	0.82157	1.036	0.97836	D	0.916	0.97223	D	10	0.979445	0.97868	D	0.335238	0.91863	D	0.849	0.95323	0.844	0.94845	0.832981234634	0.83138	0.7896264477454104	0.78914	1.16567557739	0.79611	0.706179499626	0.68039	T	0.725434	0.92273	D	0.386402	0.89113	D	0.317263	0.88976	D	0.9938805103302	0.84878	D	0.907909	0.68653	D	0.7909187	0.83330	0.720138	0.83477	0.7909187	0.83332	0.720138	0.83478	-12.51	0.87246	D	.	.	0.818	0.79531	P	.;.;.;.;.	.;.;.;.;.	4.483789	0.69979	25.5	0.99833000622340395	0.91456	0.98231	0.80757	D	AEFBI	0.836688	0.75442	D	0.769878689897437	0.84192	8.21982	0.702449766699905	0.82566	7.798508	0.999999999226131	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.674000	0.83146	7.933000	0.75122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:0.0:1.0	16.822	0.85699	836	0.38045	.;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1057.43	34	chr4	20595716	.	T	C	1057.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=441;ExcessHet=0;FS=2.485;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=1;SOR=1.015	GT:AD:DP:GQ:PL	0/1:74,46:120:99:1069,0,1839	9	0	1	0
chr4	39103467	39103467	C	T	exonic	KLHL5	.	nonsynonymous SNV	KLHL5:NM_199039:exon6:c.C1298T:p.T433I,KLHL5:NM_001171654:exon7:c.C1058T:p.T353I,KLHL5:NM_015990:exon7:c.C1481T:p.T494I,KLHL5:NM_001007075:exon8:c.C1481T:p.T494I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.0171060478813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.18956	T	0.302	0.27414	T	0.099	0.25639	B	0.034	0.25434	B	0.000004	0.62929	D	0.139015	0.999995	0.58761	D	1.845	0.48678	L	-1.17	0.78199	T	-2.01	0.46337	N	0.493	0.54584	-0.4495	0.70417	T	0.407	0.75635	T	10	0.4312203	0.57503	T	0.017106	0.38673	T	0.391	0.70684	0.491	0.57732	0.820100026833	0.81840	0.3631764824442859	0.36231	1.03285227811	0.75478	0.845786809921	0.88977	D	0.391451	0.75137	T	0.125139	0.66884	D	-0.0580228	0.66470	T	0.713013164387373	0.41348	D	0.583442	0.38541	T	0.1350033	0.31347	0.20949835	0.45297	0.1350033	0.31347	0.20949835	0.45296	-6.397	0.49486	T	.	.	0.128	0.31906	B	.;.;.;.;.	.;.;.;.;.	3.265757	0.44684	22.0	0.97563225588543845	0.34637	0.86498	0.45790	D	AEFDGBHCI	0.595444	0.58999	D	0.112146592274767	0.47030	2.934403	0.269017039635714	0.53740	3.541396	0.999999945661135	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.42	5.42	0.78666	3.951000	0.56392	7.621000	0.62310	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.600	0.95551	512	0.75040	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	951.43	40	chr4	39103467	.	C	T	951.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.02;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.18;SOR=0.746	GT:AD:DP:GQ:PL	0/1:50,36:86:99:963,0,1311	9	0	1	0
chr4	39253208	39253208	A	C	exonic	WDR19	.	nonsynonymous SNV	WDR19:NM_001317924:exon24:c.A2312C:p.Y771S,WDR19:NM_025132:exon25:c.A2792C:p.Y931S	Nephronophthisis 13, Autosomal recessive;Senior-Loken syndrome 8, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	.	177355	WDR19-related_disorder|Asphyxiating_thoracic_dystrophy_5|Cranioectodermal_dysplasia_4|not_specified|Connective_tissue_disorder|not_provided|Inborn_genetic_diseases|Senior-Loken_syndrome_8	.|MONDO:MONDO:0013717,MedGen:C3280598,OMIM:614376,Orphanet:474|MONDO:MONDO:0013719,MedGen:C3280616,OMIM:614378,Orphanet:1515|MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014579,MedGen:C4225376,OMIM:616307,Orphanet:3156	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.308	0.0187354246101	0.0042	0.000199681	0.0027	0.0010	0.0006	0	0.0008	0.0045	0	0	0.003053	472	154602	rs187546086	0.0059	0.0059	0.0061	0.0057	0.0075	0.0058	0.0058	0.0074	0.0073	0.0008	0.0006	0.0002	0	0.0009	0.0009	0.0075	0.0026	1.16e-05	0.0026	0.0026	0.0030	0.0022	0.0049	0.0024	0.0023	0.0045	0.0043	0.0009	0	0.0008	0.0003	0	0.0003	0	0.0049	0.0024	0	0.391	0.10802	T	0.391	0.15456	T	0.01	0.15535	B	0.014	0.16862	B	0.000414	0.44736	D	0.218883	0.960943	0.38208	D	1.555	0.39373	L	-0.95	0.75438	T	-1.98	0.45769	N	0.71	0.71321	-0.8576	0.51434	T	0.162	0.49797	T	10	0.022140175	0.00545	T	0.018735	0.40901	T	0.308	0.62947	.	.	0.757346685873	0.75514	0.5884470302530073	0.58774	0.244862958667	0.27001	0.6275370121	0.56796	T	0.239321	0.60741	T	-0.275185	0.11185	T	-0.162933	0.58086	T	0.0267074611073441	0.01503	T	0.893511	0.63097	D	0.14909469	0.34007	0.1524093	0.35859	0.14909469	0.34007	0.1524093	0.35858	-9.156	0.68695	D	0.20103367317567927	0.26698	0.086	0.10787	B	.	.	2.695859	0.35200	19.84	0.94431228058685213	0.24846	0.89927	0.50718	D	AEFI	0.276458	0.39119	N	-0.15617494317212	0.34971	2.002967	0.0518673362887906	0.42162	2.545428	0.0694882548357092	0.15492	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.49	5.49	0.81022	3.810000	0.55318	6.110000	0.53654	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7853:0.1414:0.0733:0.0	7.583	0.27144	390	0.83257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1107.43	43	chr4	39253208	.	A	C	1107.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.36;DP=402;ExcessHet=0;FS=3.007;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-2.385;SOR=1.127	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1119,0,851	9	0	1	0
chr4	56474105	56474105	G	T	exonic	SRP72	.	nonsynonymous SNV	SRP72:NM_001267722:exon4:c.G406T:p.V136F,SRP72:NM_006947:exon4:c.G406T:p.V136F	Bone marrow failure syndrome 1, Autosomal dominant	3	1514	2	1	2	6	0.00131926	.	.	.	4076537	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0128236642508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.639	0.40375	P	0.141	0.33616	B	0.000000	0.84330	D	0.048685	0.998809	0.45475	D	-0.09	0.04745	N	1.1	0.39050	T	-3.17	0.64363	D	0.651	0.68342	-1.1095	0.03113	T	0.042	0.18035	T	10	0.29968792	0.47520	T	0.012824	0.31723	T	0.165	0.42395	0.468	0.54052	0.602640947006	0.59946	0.5491531323333341	0.54841	0.412474241758	0.41986	0.710250258446	0.68630	T	0.113314	0.43025	T	-0.0117343	0.50023	T	-0.254632	0.49359	T	0.891661062357699	0.54265	D	0.959504	0.93000	D	0.73876	0.80221	0.5243896	0.72522	0.73876	0.80223	0.5243896	0.72522	-13.343	0.90727	D	0.3435675734242427	0.44119	0.584	0.68202	P	.;.;.;.	.;.;.;.	4.464024	0.69498	25.4	0.99410474259761716	0.63263	0.91426	0.53509	D	AEFBCI	0.879122	0.80483	D	0.110192707738909	0.46938	2.926596	0.2870897355134	0.54785	3.642521	0.999314530338151	0.39113	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.35	4.38	0.52019	7.723000	0.83751	7.486000	0.59313	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.2535:0.0:0.7465:0.0	4.878	0.13023	526	0.73951	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	958.43	35	chr4	56474105	.	G	T	958.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.585;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.573;SOR=0.738	GT:AD:DP:GQ:PL	0/1:44,40:84:99:970,0,974	9	0	1	0
chr4	65669679	65669679	G	T	exonic	EPHA5	.	nonsynonymous SNV	EPHA5:NM_001281765:exon1:c.C64A:p.P22T,EPHA5:NM_001281766:exon1:c.C64A:p.P22T,EPHA5:NM_001281767:exon1:c.C64A:p.P22T,EPHA5:NM_004439:exon1:c.C64A:p.P22T,EPHA5:NM_182472:exon1:c.C64A:p.P22T	.	415	1106	0	1	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0370798578078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.026e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.331	0.21478	T	0.001	0.07471	B	0.003	0.10090	B	0.091205	0.20337	N	0.360102	1	0.08975	N	0	0.06538	N	-0.57	0.71895	T	-0.94	0.25118	N	0.347	0.38848	-1.0406	0.17132	T	0.131	0.44188	T	10	0.10370302	0.19079	T	0.03708	0.57392	D	0.074	0.21613	0.117	0.02508	0.695720267042	0.69309	0.25924828935521343	0.25838	0.630853255338	0.57057	0.782312273979	0.79277	T	0.07654	0.35442	T	-0.114624	0.34007	T	-0.402426	0.33103	T	0.0906344254905335	0.11293	T	0.839416	0.51368	T	0.05260058	0.09834	0.050977416	0.08110	0.05260058	0.09834	0.050977416	0.08110	-4.454	0.30876	T	.	.	0.070	0.03811	B	.;.;.;.;.;.	.;.;.;.;.;.	2.602130	0.33775	19.44	0.99326252581676788	0.59584	0.25272	0.22649	N	AEFDBCI	0.039155	0.05648	N	-0.929881315016334	0.10148	0.483578	-0.916849936584017	0.11697	0.597485	0.999528622668903	0.40175	0.455138	0.09556	0	0.59043	0.45803	0	0.608004	0.38603	0	0.56751	0.32155	0	.	.	4.83	-0.156	0.12736	0.863000	0.27567	-0.141000	0.11517	0.672000	0.70159	0.341000	0.25683	0.000000	0.08366	0.403000	0.26849	0.2829:0.316:0.4011:0.0	4.293	0.10333	935	0.14827	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	939.43	34	chr4	65669679	.	G	T	939.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.757;DP=368;ExcessHet=0;FS=3.88;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-1.002;SOR=1.303	GT:AD:DP:GQ:PL	0/1:23,35:58:99:951,0,564	9	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	.	.	.	.	.	.	.	.	0.25	56.6	47	chr4	82485718	.	G	C	56.6	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.194;DP=377;ExcessHet=2.8389;FS=96.99;InbreedingCoeff=-0.2826;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.092;SOR=7.114	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,4:30:11:.:.:11,0,488:.	5	0	5	0
chr4	87423002	87423002	C	A	exonic	NUDT9	.	nonsynonymous SNV	NUDT9:NM_001248011:exon1:c.C97A:p.Q33K,NUDT9:NM_024047:exon1:c.C97A:p.Q33K	.	432	1065	23	2	0	27	0.0125174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0157474442518	0.0028	0.00219649	0.0030	0.0008	0.0014	0	0.0006	0.0039	0.0044	0.0043	0.0029172	451	154602	rs146952902	0.0030	0.0030	0.0029	0.0032	0.0210	0.0030	0.0029	0.0179	0.0168	0.0007	0.0017	0.0063	0	0.0006	0.0210	0.0031	0.0037	0.0044	0.0024	0.0024	0.0023	0.0025	0.0035	0.0022	0.0021	0.0031	0.0030	0.0006	0.0318	0.0016	0.0052	0	0.0003	0.0102	0.0035	0.0071	0.0023	0.299	0.14595	T	0.732	0.06448	T	0.0	0.02946	B	0.001	0.04355	B	0.159179	0.17718	N	0.536650	1	0.21117	N	0	0.06538	N	-0.95	0.75438	T	-0.03	0.07444	N	0.102	0.08506	-0.9309	0.44006	T	0.130	0.43907	T	10	0.0036392808	0.00066	T	0.015747	0.36654	T	0.058	0.16647	.	.	0.751563266754	0.74931	0.6665438887137366	0.66592	0.447342404213	0.44593	0.320701599121	0.13528	T	0.044926	0.32375	T	-0.444816	0.01211	T	-0.411458	0.32056	T	0.00758554600725381	0.00088	T	0.232977	0.03672	T	0.0655083	0.14007	0.060480315	0.11525	0.0655083	0.14007	0.060480315	0.11524	-3.956	0.23143	T	.	.	0.073	0.08033	B	.;.	.;.	0.312258	0.06872	3.407	0.75623271815446069	0.11147	0.08455	0.14382	N	ALL	0.072755	0.14531	N	-0.952301312095	0.09641	0.4571769	-0.95089995723086	0.10901	0.5520998	0.999999992765565	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.56	2.71	0.31092	0.616000	0.24038	0.513000	0.19097	0.549000	0.26987	0.004000	0.16614	0.001000	0.17328	0.004000	0.06068	0.0:0.7534:0.2466:0.0	9.128	0.35987	558	0.71484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.015152	0.009511	0.029240	0.000000	0.025862	0.015244	0.022727	0.05	1601.43	36	chr4	87423002	.	C	A	1601.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.424;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=1.46;SOR=0.661	GT:AD:DP:GQ:PL	0/1:68,69:137:99:1613,0,1707	9	0	1	0
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1802.88	30	chr4	87615398	.	T	*	1802.88	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.79;DP=375;ExcessHet=0.2065;FS=5.447;InbreedingCoeff=0.2;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.15;SOR=0.97	GT:AD:DP:GQ:PL	0/1:14,20:34:99:786,0,528	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5581.44	43	chr4	87615730	.	ATAG	*	5581.44	.	AC=8;AF=0.4;AN=20;DP=390;ExcessHet=0;FS=2.751;InbreedingCoeff=0.6078;MLEAC=8;MLEAF=0.4;MQ=58.11;QD=19.52;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,26:26:80:.:.:1044,80,0:.	4	2	4	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4265.86	19	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4265.86	.	AC=8;AF=0.4;AN=20;DP=428;ExcessHet=0;FS=2.751;InbreedingCoeff=0.6078;MLEAC=8;MLEAF=0.4;MQ=57.76;QD=20.22;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,26:26:80:.:.:1044,80,0:.	4	2	4	0
chr4	87615923	87615924	CA	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	1074	227	3	1	217	222	0.0108932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	443.54	16	chr4	87615923	.	CA	*	443.54	.	AC=10;AF=0.714;AN=14;DP=237;ExcessHet=0;FS=1.018;InbreedingCoeff=0.5238;MLEAC=12;MLEAF=0.857;MQ=50.57;QD=3.33;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,38:38:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1667,112,0:87615920	1	4	2	3
chr4	87615925	87615936	GTGACAGCAGCA	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	1073	228	3	1	217	222	0.010846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	443.54	16	chr4	87615925	.	GTGACAGCAGCA	*	443.54	.	AC=10;AF=0.714;AN=14;DP=237;ExcessHet=0;FS=1.018;InbreedingCoeff=0.5238;MLEAC=12;MLEAF=0.857;MQ=50.57;QD=3.33;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,38:38:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1667,112,0:87615920	1	4	2	3
chr4	87615936	87615936	A	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	2341.51	12	chr4	87615936	.	A	*	2341.51	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.37;DP=206;ExcessHet=0;FS=1.176;InbreedingCoeff=0.5238;MLEAC=5;MLEAF=0.357;MQ=52.77;MQRankSum=-2.984;QD=19.04;ReadPosRankSum=-1.078;SOR=0.995	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,38:38:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1667,112,0:87615920	4	1	2	3
chr4	87615952	87615955	GCGA	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	1179	318	11	12	2	37	0.052161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	337.62	10	chr4	87615952	.	GCGA	*	337.62	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.27;DP=205;ExcessHet=0;FS=0;InbreedingCoeff=0.3502;MLEAC=2;MLEAF=0.111;MQ=59.56;MQRankSum=-3.079;QD=3.01;ReadPosRankSum=-0.12;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,38:38:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1667,112,0:87615920	8	1	0	1
chr4	87615956	87615962	TAGCAGC	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	1160	197	41	98	26	263	0.375594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2060.48	9	chr4	87615956	.	TAGCAGC	*	2060.48	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.43;DP=202;ExcessHet=1.1394;FS=0.575;InbreedingCoeff=0.0476;MLEAC=3;MLEAF=0.214;MQ=55.79;MQRankSum=-3.079;QD=12.05;ReadPosRankSum=-0.475;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,38:38:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1667,112,0:87615920	6	1	0	3
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1559.34	6	chr4	87615962	.	C	*	1559.34	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.42;DP=188;ExcessHet=0.3476;FS=0.585;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.286;MQ=50.32;MQRankSum=-4.222;QD=9.51;ReadPosRankSum=0.124;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,38:38:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1667,112,0:87615920	5	1	1	3
chr4	87615971	87615971	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.88	4	chr4	87615971	.	C	*	1098.88	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.83;DP=163;ExcessHet=0.0921;FS=4.117;InbreedingCoeff=0.3407;MLEAC=3;MLEAF=0.214;MQ=49.23;MQRankSum=-1.834;QD=13.91;ReadPosRankSum=-0.253;SOR=1.094	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,38:38:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1667,112,0:87615920	6	1	0	3
chr4	87616001	87616001	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	1074	417	12	15	4	46	0.0479452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	31.75	3	chr4	87616001	.	T	*	31.75	.	AC=2;AF=0.111;AN=18;DP=135;ExcessHet=0;FS=0;InbreedingCoeff=0.742;MLEAC=2;MLEAF=0.111;MQ=60;QD=0.88;SOR=0.984	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,36:36:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1609,108,0:87615920	8	1	0	1
chr4	87616007	87616007	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	1058	432	2	4	26	36	0.0114416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	31.56	3	chr4	87616007	.	T	*	31.56	.	AC=2;AF=0.111;AN=18;DP=139;ExcessHet=0;FS=0;InbreedingCoeff=0.789;MLEAC=2;MLEAF=0.111;MQ=60;QD=0.88;SOR=0.984	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,36:36:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1609,108,0:87615920	8	1	0	1
chr4	87616008	87616008	G	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	1045	447	12	14	4	44	0.0428266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	31.03	3	chr4	87616008	.	G	*	31.03	.	AC=2;AF=0.1;AN=20;DP=140;ExcessHet=0;FS=0;InbreedingCoeff=0.8895;MLEAC=2;MLEAF=0.1;MQ=60;QD=0.86;SOR=0.984	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,36:36:99:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1609,108,0:87615920	9	1	0	0
chr4	89113762	89113762	G	A	exonic	TIGD2	.	nonsynonymous SNV	TIGD2:NM_001382380:exon2:c.G788A:p.R263K,TIGD2:NM_145715:exon2:c.G788A:p.R263K	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00177332286756	.	.	8.243e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs754436347	4.788e-06	4.788e-06	2.722e-06	6.875e-06	0.0007	1.99e-06	1.28e-06	0.0002	0.0001	0	0	0	0	0	0.0007	8.993e-07	0	2.319e-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	0.952	0.02136	T	0.933	0.02750	T	0.002	0.09854	B	0.003	0.08700	B	0.028369	0.25612	N	0.274240	0.999376	0.21289	N	-0.49	0.02651	N	1.01	0.41058	T	0.27	0.04306	N	0.17	0.18103	-1.0217	0.23162	T	0.045	0.19478	T	10	0.06915411	0.09882	T	0.001773	0.03012	T	0.044	0.11924	0.607	0.73945	0.264547087235	0.26054	0.1901371961342062	0.18931	0.140382735121	0.15837	0.48381587863	0.36582	T	0.009036	0.08254	T	-0.304276	0.08262	T	-0.577994	0.14725	T	0.0245531642926208	0.01215	T	0.665633	0.27494	T	0.054865055	0.10585	0.04751043	0.06858	0.054865055	0.10585	0.04751043	0.06858	-2.452	0.05462	T	.	.	0.091	0.16407	B	.;.	.;.	1.375064	0.17855	13.41	0.75720848729712609	0.11185	0.42486	0.26888	N	AEFGBHCI	0.068684	0.13561	N	-0.536468681587165	0.20910	1.105796	-0.349870514362063	0.26513	1.464932	0.999996216934634	0.74766	0.740787	0.97801	0	0.696367	0.67918	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.49	2.67	0.30756	0.479000	0.21938	2.868000	0.35247	0.676000	0.76740	0.555000	0.27385	1.000000	0.68203	1.000000	0.97212	0.3265:0.0:0.6735:0.0	6.239	0.19987	862	0.33134	DDE superfamily endonuclease domain;DDE superfamily endonuclease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2010.43	34	chr4	89113762	.	G	A	2010.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.929;DP=454;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-0.117;SOR=0.71	GT:AD:DP:GQ:PL	0/1:58,72:130:99:2022,0,1521	9	0	1	0
chr4	89953020	89953020	T	C	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon8:c.T3289C:p.Y1097H,MMRN1:NM_001371403:exon9:c.T3289C:p.Y1097H	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.0400902348327	7.7e-05	0.000399361	0.0001	9.844e-05	0	0	0	0.0001	0	0.0003	0.0001035	16	154602	rs199716183	7.624e-05	7.661e-05	6.145e-05	9.12e-05	0.0014	6.449e-05	6.028e-05	0.0007	0.0005	9.044e-05	2.272e-05	0.0004	0	0	0.0014	3.606e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0006	9.736e-05	8.251e-05	0.0002	9.003e-05	0.0002	0	0.0002	0.0003	0	0	0.0034	7.351e-05	0	0.0006	0.031	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000010	0.62929	D	0.000000	0.972161	0.38925	D	1.39	0.34934	L	0.11	0.66474	T	-0.69	0.27259	N	0.656	0.71321	-0.2831	0.75456	T	0.388	0.74305	T	10	0.194527	0.35267	T	0.04009	0.59179	D	0.349	0.67049	.	.	0.710252556725	0.70772	0.4291670179428041	0.42833	0.0868715534287	0.09797	0.732777237892	0.71913	T	0.115045	0.45217	T	-0.0785767	0.39944	T	-0.0306368	0.68326	D	0.0925420665866641	0.11516	T	0.872513	0.57956	D	0.10982175	0.25962	0.105853744	0.25455	0.10982175	0.25962	0.105853744	0.25454	-3.366	0.14602	T	.	.	0.734	0.78581	P	.;.;.	.;.;.	4.528004	0.71055	25.6	0.99857060259026864	0.93548	0.92722	0.56386	D	AEFBI	0.698648	0.65625	D	0.525458370543049	0.68600	5.239589	0.488205813613256	0.67208	5.053234	0.947861424996864	0.27773	0.706548	0.73137	0	0.588015	0.36545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	4.53	4.53	0.55009	5.028000	0.63895	7.265000	0.57972	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	13.122	0.58750	871	0.31377	C1q domain|C1q domain;C1q domain|C1q domain;C1q domain|C1q 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	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	896.43	37	chr4	89953020	.	T	C	896.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.876;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=2.43;SOR=0.784	GT:AD:DP:GQ:PL	0/1:28,33:61:99:908,0,751	9	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1544.91	130	chr4	99318097	.	C	G	1544.91	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.498;DP=1449;ExcessHet=10.3881;FS=281.803;InbreedingCoeff=-0.6704;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=1.5;ReadPosRankSum=-0.079;SOR=11.983	GT:AD:DP:GQ:PL	0/1:94,59:153:99:347,0,1705	2	0	8	0
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	.	.	.	.	.	.	.	.	0.3333	1384.73	96	chr4	99347057	.	C	G	1384.73	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.852;DP=1202;ExcessHet=4.5998;FS=272.732;InbreedingCoeff=-0.4818;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=-0.703;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,53:129:99:.:.:511,0,1263:.	3	0	6	1
chr4	101196010	101196010	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G165C:p.R55S,PPP3CA:NM_001130691:exon2:c.G165C:p.R55S,PPP3CA:NM_001130692:exon2:c.G165C:p.R55S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.542	0.353534218001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.017	0.83351	D	0.998	0.73220	D	0.966	0.71341	D	0.000004	0.62929	D	0.056881	0.999911	0.81001	D	3.325	0.90780	M	3.38	0.70365	T	-3.07	0.88065	D	0.939	0.94550	0.145	0.84969	D	0.589	0.85259	D	10	0.5369051	0.63499	D	0.353534	0.92331	D	0.542	0.80901	0.434	0.48500	0.966502697184	0.96614	0.9224824476460386	0.92225	2.40020819914	0.97175	0.78887450695	0.80271	T	0.798026	0.94820	D	0.316579	0.84226	D	0.216967	0.84021	D	0.9861741065979	0.76962	D	0.997517	0.98983	D	0.96387434	0.97668	0.8698088	0.92852	0.96387434	0.97668	0.8698088	0.92853	-3.337	0.99288	T	0.927214547401517	0.96958	0.982	0.97319	P	.;.;.;.;.;.	.;.;.;.;.;.	2.607304	0.33856	19.46	0.98219283723808459	0.39281	0.55150	0.29792	D	AEFBI	0.165597	0.29210	N	0.14515803016552	0.48582	3.068794	0.0200804544599741	0.40649	2.429266	0.99974081000684	0.42466	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	2.0	0.25495	-0.541000	0.06187	0.576000	0.19656	-0.172000	0.11096	0.180000	0.24064	0.998000	0.33993	0.994000	0.71098	0.0:0.5748:0.0:0.4252	10.653	0.44850	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	222.23	130	chr4	101196010	.	C	G	222.23	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-3.803;DP=729;ExcessHet=0;FS=97.693;InbreedingCoeff=-0.1355;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=2.22;SOR=5.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,15:131:99:0|1:101196010_C_G:232,0,4799:101196010	7	0	1	2
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T,PPP3CA:NM_001130691:exon2:c.G164C:p.R55T,PPP3CA:NM_001130692:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.243660755304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.021	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.000004	0.62929	D	0.056881	0.999999	0.81001	D	3.325	0.90780	M	3.41	0.70365	T	-3.5	0.88148	D	0.874	0.87157	0.511	0.90696	D	0.660	0.88193	D	10	0.82876897	0.82046	D	0.243661	0.88811	D	0.561	0.82003	0.413	0.45052	0.874410110515	0.87318	0.9160898921350675	0.91583	2.69341285729	0.98560	0.813101530075	0.83969	D	0.783131	0.94293	D	0.365848	0.87692	D	0.287739	0.87534	D	0.98066520690918	0.73482	D	0.997593	0.99042	D	0.93468946	0.94708	0.8180235	0.89412	0.93468946	0.94709	0.8180235	0.89413	-3.957	0.99447	T	0.7273859440343144	0.80888	0.972	0.95832	P	.;.;.;.;.;.	.;.;.;.;.;.	4.473321	0.69731	25.4	0.96904989471550151	0.31554	0.98495	0.83383	D	AEFBI	0.911333	0.87045	D	0.976696518006935	0.94982	13.20586	0.918319001961986	0.96323	14.55806	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	558.94	158	chr4	101196011	.	C	G	558.94	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-2.583;DP=1017;ExcessHet=0.7463;FS=218.697;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=2.31;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,15:132:99:0|1:101196010_C_G:229,0,4841:101196010	1	0	3	6
chr4	101196014	101196014	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G161C:p.G54A,PPP3CA:NM_001130691:exon2:c.G161C:p.G54A,PPP3CA:NM_001130692:exon2:c.G161C:p.G54A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.220056467062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000059	0.53742	D	0.123284	0.994882	0.81001	D	3.34	0.90961	M	3.37	0.68892	T	-2.09	0.88361	N	0.798	0.80180	0.428	0.89507	D	0.620	0.86597	D	10	0.75291437	0.75769	D	0.220056	0.87738	D	0.463	0.75956	0.358	0.36060	0.834175772026	0.83260	0.8658886325976967	0.86553	2.36483911237	0.96871	0.828539609909	0.86339	D	0.816308	0.95461	D	0.238618	0.77530	D	0.104982	0.77238	D	0.981502890586853	0.73950	D	0.999309	0.99724	D	0.9314765	0.94384	0.84041	0.90865	0.9314765	0.94385	0.84041	0.90866	-3.176	0.89072	T	0.9695120588448441	0.99051	0.942	0.90700	P	.;.;.;.;.;.	.;.;.;.;.;.	4.285101	0.65301	24.8	0.99598018212957651	0.74042	0.98495	0.83383	D	AEFBI	0.904142	0.85408	D	1.01799716435819	0.96272	14.49784	0.950030514374969	0.97406	16.074	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	211.43	145	chr4	101196014	.	C	G	211.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.781;DP=1059;ExcessHet=0;FS=96.911;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=2.5;SOR=5.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,15:134:99:0|1:101196010_C_G:223,0,4925:101196010	9	0	1	0
chr4	101196015	101196015	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G160C:p.G54R,PPP3CA:NM_001130691:exon2:c.G160C:p.G54R,PPP3CA:NM_001130692:exon2:c.G160C:p.G54R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.311424803661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000059	0.53742	D	0.123284	0.998229	0.81001	D	3.34	0.90961	M	3.36	0.69287	T	-3.81	0.95842	D	0.816	0.81261	0.428	0.89507	D	0.620	0.86597	D	10	0.8392846	0.83082	D	0.311425	0.91197	D	0.546	0.81135	0.377	0.39156	0.8575125375	0.85613	0.9159854388386633	0.91573	2.47311793574	0.97507	0.874480307102	0.93203	D	0.801841	0.94956	D	0.387858	0.89198	D	0.319355	0.89062	D	0.995761930942535	0.88027	D	0.999394	0.99801	D	0.9461721	0.95876	0.856816	0.91963	0.9461721	0.95876	0.856816	0.91963	-3.186	0.92607	T	0.8000097979291737	0.87694	0.993	0.98907	P	.;.;.;.;.;.	.;.;.;.;.;.	4.568295	0.72054	25.8	0.99886416990084914	0.96126	0.98495	0.83383	D	AEFBI	0.918562	0.88780	D	1.01926601861206	0.96308	14.53905	0.951211567613319	0.97440	16.13271	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	262.72	108	chr4	101196015	.	C	G	262.72	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-3.855;DP=929;ExcessHet=0.2348;FS=268.399;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=2.5;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,15:134:99:0|1:101196010_C_G:223,0,4925:101196010	6	0	2	2
chr4	101196016	101196016	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G159C:p.E53D,PPP3CA:NM_001130691:exon2:c.G159C:p.E53D,PPP3CA:NM_001130692:exon2:c.G159C:p.E53D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.350	0.116487356064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.099	0.76473	T	0.999	0.77913	D	0.983	0.77487	D	0.000010	0.62929	D	0.063490	0.999785	0.81001	D	3.33	0.90841	M	3.34	0.68030	T	-0.56	0.60982	N	0.68	0.68690	0.033	0.82908	D	0.539	0.82965	D	10	0.32277888	0.49624	T	0.116487	0.79598	D	0.350	0.67142	0.33	0.31519	0.773359322219	0.77127	0.8378449950538576	0.83744	1.27153484112	0.82284	0.813342690468	0.84005	D	0.717944	0.92006	D	0.0589917	0.59486	T	-0.153039	0.58973	T	0.946301698684692	0.62442	D	0.997538	0.98994	D	0.8979212	0.91197	0.65002483	0.79525	0.8979212	0.91198	0.65002483	0.79526	-4.126	0.86258	T	0.8950661470831041	0.94845	0.943	0.95244	P	.;.;.;.;.;.	.;.;.;.;.;.	2.683555	0.35009	19.78	0.9972510742553008	0.82336	0.88357	0.48248	D	AEFBI	0.391531	0.46994	N	0.294411657883077	0.55866	3.750601	0.193394592815693	0.49485	3.151024	0.999851423398159	0.44174	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	2.03	0.25714	0.074000	0.14525	0.415000	0.18155	-0.182000	0.10109	0.941000	0.32681	0.994000	0.32194	0.993000	0.69303	0.0:0.6313:0.0:0.3687	9.685	0.39256	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	249.14	49	chr4	101196016	.	C	G	249.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.047;DP=676;ExcessHet=0.2348;FS=258.629;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.5;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,15:134:99:0|1:101196010_C_G:223,0,4925:101196010	8	0	2	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	.	.	.	.	.	.	.	.	0.35	639.89	106	chr4	106925843	.	C	T	639.89	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.655;DP=1109;ExcessHet=7.0302;FS=156.498;InbreedingCoeff=-0.5348;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=0.65;ReadPosRankSum=1.63;SOR=10.97	GT:AD:DP:GQ:PL	0/1:126,38:164:49:49,0,2335	3	0	7	0
chr4	109734712	109734712	G	T	exonic	CFI	.	nonsynonymous SNV	CFI:NM_001375280:exon12:c.C1598A:p.S533Y,CFI:NM_001375279:exon13:c.C1619A:p.S540Y,CFI:NM_001375278:exon14:c.C1643A:p.S548Y	Complement factor I deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	35.66	4	chr4	109734712	.	G	T	35.66	.	AC=2;AF=0.125;AN=16;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.125;MQ=60;QD=17.83;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	7	1	0	2
chr4	121670000	121670000	C	T	exonic	ANXA5	.	nonsynonymous SNV	ANXA5:NM_001154:exon11:c.G734A:p.R245Q	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.00814331002882	0.0012	0.000199681	0.0010	0	0.0009	0	0	0.0015	0.0033	0.0003	0.0008603	133	154602	rs145513784	0.0006	0.0007	0.0006	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	9.164e-05	0.0006	0.0145	2.533e-05	5.623e-05	0.0026	0.0004	0.0013	0.0005	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0008	0.0006	7.227e-05	0	0.0012	0.0130	0	9.457e-05	0.0034	0.0005	0.0009	0.0002	0.076	0.38407	T	0.36	0.29249	T	0.999	0.77913	D	0.711	0.54536	P	0.000025	0.55875	D	0.113115	0.999994	0.58761	D	1.955	0.52871	M	2.76	0.11515	T	-2.93	0.64593	D	0.529	0.55799	-1.1791	0.00383	T	0.052	0.22114	T	10	0.0099906325	0.00224	T	0.008143	0.21572	T	0.239	0.54358	.	.	0.64992776045	0.64702	0.7287318009238326	0.72817	0.600742330255	0.55147	0.472031742334	0.34959	T	0.363	0.72864	T	-0.127122	0.31964	T	-0.0504644	0.66991	D	0.177510887384415	0.19077	T	0.956004	0.83260	D	0.493785	0.66728	0.28685826	0.54695	0.493785	0.66729	0.28685826	0.54695	-6.312	0.48817	T	.	.	0.273	0.54250	B	.;.;.	.;.;.	5.566614	0.92182	32	0.99848833101050494	0.92838	0.97867	0.77726	D	AEFBI	0.735570	0.68134	D	0.499319450162693	0.67051	5.030303	0.564963731177956	0.72447	5.810905	0.999999999997475	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	4.614000	0.60886	7.568000	0.60641	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.198	0.89762	802	0.44336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	569.43	39	chr4	121670000	.	C	T	569.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.455;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-1.843;SOR=0.788	GT:AD:DP:GQ:PL	0/1:37,27:64:99:581,0,860	9	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	.	.	.	.	.	.	.	.	0.45	2255.24	79	chr4	140563137	.	C	G	2255.24	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.837;DP=883;ExcessHet=15.1594;FS=200.301;InbreedingCoeff=-0.8222;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.08;ReadPosRankSum=-0.592;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,30:102:99:0|1:140563137_C_G:285,0,2117:140563137	1	0	9	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	.	.	.	.	.	.	.	.	0.5	2261.8	79	chr4	140563138	.	C	G	2261.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.878;DP=877;ExcessHet=15.1594;FS=206.912;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=-0.474;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,30:102:99:0|1:140563137_C_G:285,0,2117:140563137	0	0	9	1
chr4	151174861	151174861	G	A	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001128924:exon1:c.C503T:p.P168L,SH3D19:NM_001378128:exon6:c.C503T:p.P168L,SH3D19:NM_001378131:exon6:c.C503T:p.P168L,SH3D19:NM_001009555:exon7:c.C503T:p.P168L,SH3D19:NM_001128923:exon7:c.C503T:p.P168L,SH3D19:NM_001243349:exon7:c.C503T:p.P168L,SH3D19:NM_001378121:exon7:c.C1343T:p.P448L,SH3D19:NM_001378122:exon7:c.C1343T:p.P448L,SH3D19:NM_001378126:exon7:c.C503T:p.P168L,SH3D19:NM_001378127:exon7:c.C503T:p.P168L,SH3D19:NM_001378130:exon7:c.C503T:p.P168L,SH3D19:NM_001378124:exon8:c.C1166T:p.P389L,SH3D19:NM_001378129:exon8:c.C503T:p.P168L,SH3D19:NM_001378123:exon9:c.C1166T:p.P389L	.	427	1094	1	0	0	1	0.00045683	.	.	.	3199420	SH3D19-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.400	0.0887897028964	0.0029	0.000599042	0.0016	0.0008	0.0005	0	0	0.0026	0.0024	8.916e-05	0.0016817	260	154602	rs147501781	0.0029	0.0029	0.0029	0.0029	0.0036	0.0028	0.0028	0.0035	0.0035	0.0006	0.0005	0.0008	0	9.431e-05	0.0011	0.0036	0.0024	0.0001	0.0019	0.0019	0.0021	0.0017	0.0034	0.0017	0.0017	0.0030	0.0029	0.0007	0	0.0014	0.0006	0	0.0002	0.0034	0.0034	0.0019	0.0004	0.001	0.91255	D	0.051	0.47828	T	1.0	0.90584	D	0.999	0.92359	D	0.000896	0.00704	N	3.603780	0.99996	0.58761	D	2.51	0.73131	M	-0.98	0.86283	T	-2.97	0.65858	D	0.424	0.62442	-0.0710	0.80758	T	0.775	0.92353	D	10	0.014683545	0.00309	T	0.08879	0.75201	D	0.400	0.71401	.	.	0.94822992479	0.94768	0.2527989558691502	0.25193	0.200311802764	0.22433	0.518447995186	0.41407	T	0.213285	0.57456	T	-0.172345	0.24881	T	-0.0237032	0.68785	D	0.045138757415615	0.04628	T	0.880912	0.59977	D	0.12789156	0.29916	0.18912494	0.42241	0.12789156	0.29915	0.18912494	0.42240	-5.508	0.41942	T	.	.	0.107	0.30842	B	.;.;.;.;.;.	.;.;.;.;.;.	4.725063	0.76048	26.4	0.99905410501061764	0.97651	0.97808	0.77284	D	AEFDBI	0.749355	0.69082	D	0.779766710816821	0.84826	8.397115	0.778551203216122	0.88267	9.517849	0.999999970093791	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	5.200000	0.64994	10.012000	0.83097	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	20.241	0.98374	603	0.67726	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1625.43	34	chr4	151174861	.	G	A	1625.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.93;DP=447;ExcessHet=0;FS=1.35;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.251;SOR=0.826	GT:AD:DP:GQ:PL	0/1:77,63:140:99:1637,0,2034	9	0	1	0
chr4	154565991	154565991	C	T	exonic	FGB	.	nonsynonymous SNV	FGB:NM_001382759:exon2:c.C298T:p.P100S,FGB:NM_001382760:exon2:c.C298T:p.P100S,FGB:NM_001382761:exon2:c.C298T:p.P100S,FGB:NM_001382762:exon2:c.C298T:p.P100S,FGB:NM_001382763:exon2:c.C298T:p.P100S,FGB:NM_001382764:exon2:c.C298T:p.P100S,FGB:NM_001382765:exon2:c.C298T:p.P100S,FGB:NM_005141:exon2:c.C298T:p.P100S	Afibrinogenemia, congenital, Autosomal recessive;Dysfibrinogenemia, congenital;Hypofibrinogenemia, congenital, Autosomal recessive	8	1512	2	0	0	2	0.000660939	.	.	.	683623	not_provided|not_specified|Congenital_afibrinogenemia	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.092	0.0499517293164	0.0020	0.00119808	0.0013	0	0.0007	0	0.0017	0.0020	0.0023	0.0002	0.0012484	193	154602	rs2227434	0.0014	0.0014	0.0014	0.0015	0.0017	0.0014	0.0014	0.0016	0.0016	0.0002	0.0010	0.0012	0	0.0017	0.0017	0.0016	0.0015	0.0002	0.0014	0.0014	0.0014	0.0013	0.0023	0.0012	0.0012	0.0020	0.0019	0.0003	0	0.0011	0.0006	0.0002	0.0017	0	0.0023	0.0009	0	0.256	0.16793	T	0.347	0.17640	T	0.008	0.14655	B	0.006	0.12133	B	0.070935	0.21506	N	0.502464	1	0.08975	N	2.125	0.59049	M	-1.54	0.81640	D	-0.26	0.11185	N	0.199	0.21969	-0.8263	0.53537	T	0.276	0.64763	T	10	0.007793635	0.00177	T	0.049952	0.64035	D	0.092	0.26621	.	.	0.753787265017	0.75156	0.3147103870203263	0.31384	0.169527096797	0.19113	0.330201566219	0.14965	T	0.170763	0.51862	T	-0.405035	0.02145	T	-0.360749	0.37966	T	0.019185219661445	0.00625	T	0.779722	0.41422	T	0.07642907	0.17283	0.06425028	0.12851	0.06980197	0.15322	0.07691057	0.17081	-3.449	0.15725	T	0.11348693191544625	0.09937	0.097	0.15921	B	.	.	1.241819	0.16376	12.50	0.92819033817537799	0.22347	0.17980	0.20069	N	AEFBI	0.785274	0.71570	D	-0.614536121407005	0.18506	0.961389	-0.565627035966214	0.20392	1.098437	0.999748450182885	0.42466	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	1.98	0.25351	0.384000	0.20396	-2.410000	0.03789	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.974000	0.55675	0.1681:0.3298:0.5021:0.0	11.095	0.47361	856	0.34373	Fibrinogen, alpha/beta/gamma chain, coiled coil domain|Fibrinogen, alpha/beta/gamma chain, 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	0.005092	0.000000	0.004076	0.000000	0.000000	0.000000	0.009434	0.011450	0.05	2270.43	33	chr4	154565991	.	C	T	2270.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.784;DP=494;ExcessHet=0;FS=4.304;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.84;SOR=0.457	GT:AD:DP:GQ:PL	0/1:85,96:181:99:2282,0,2339	9	0	1	0
chr4	176162121	176162121	G	A	exonic	WDR17	.	nonsynonymous SNV	WDR17:NM_001378105:exon20:c.G2632A:p.D878N,WDR17:NM_001378106:exon20:c.G2632A:p.D878N,WDR17:NM_001378104:exon21:c.G2797A:p.D933N,WDR17:NM_181265:exon21:c.G2797A:p.D933N,WDR17:NM_001350727:exon22:c.G2869A:p.D957N,WDR17:NM_001378103:exon22:c.G2869A:p.D957N,WDR17:NM_170710:exon22:c.G2869A:p.D957N	.	432	1086	4	0	0	4	0.00183824	.	.	.	2820282	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.121	0.0157253066431	0.0035	0.00159744	0.0028	0.0006	0.0009	0	0.0021	0.0043	0	0.0015	0.0027749	429	154602	rs148579014	0.0043	0.0044	0.0045	0.0042	0.0050	0.0043	0.0042	0.0049	0.0049	0.0004	0.0007	0.0035	0	0.0030	0.0005	0.0050	0.0046	0.0021	0.0026	0.0026	0.0026	0.0027	0.0044	0.0024	0.0023	0.0040	0.0038	0.0008	0	0.0007	0.0040	0	0.0025	0	0.0044	0.0005	0.0033	0.123	0.28271	T	0.26	0.23638	T	0.77	0.43887	P	0.411	0.44827	B	0.000021	0.55875	D	0.112987	0.999999	0.58761	D	2.175	0.60977	M	0.38	0.58176	T	-0.72	0.22078	N	0.534	0.56231	-0.5886	0.65276	T	0.282	0.65369	T	10	0.012596369	0.00270	T	0.015725	0.36624	T	0.159	0.41286	.	.	0.922754311206	0.92196	0.4543130370410806	0.45349	0.169914134058	0.19155	0.486896038055	0.37008	T	0.011125	0.09967	T	-0.407081	0.02079	T	-0.357527	0.38338	T	0.0411153845724279	0.03892	T	0.917608	0.70392	D	0.09502753	0.22355	0.08986318	0.21039	0.09502753	0.22355	0.08986318	0.21039	-7.734	0.59244	D	.	.	0.120	0.24867	B	.;.;.	.;.;.	3.803540	0.54822	23.5	0.99894746160900372	0.96819	0.98798	0.86991	D	AEFGI	0.891130	0.82680	D	0.540976914631386	0.69535	5.37067	0.624344427918629	0.76712	6.541862	0.999999999935801	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	8.974000	0.93007	9.757000	0.81495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.611000	0.31665	0.0:0.0:1.0:0.0	19.862	0.96784	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	782.43	50	chr4	176162121	.	G	A	782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.123;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-1.545;SOR=0.702	GT:AD:DP:GQ:PL	0/1:50,35:85:99:794,0,1223	9	0	1	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	630.24	103	chr4	176711631	.	G	C	630.24	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-1.638;DP=842;ExcessHet=7.0302;FS=94.732;InbreedingCoeff=-0.6311;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.219;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,17:91:99:0|1:176711631_G_C:99,0,2362:176711631	2	0	7	1
chr4	185431981	185431981	G	T	splicing	C4orf47	NM_001114357:exon2:c.101-1G>T	.	.	.	435	1085	2	0	0	2	0.00092081	1.0000	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0	0	0	0.0043	0.0023	0	0.0005	0.0004981	77	154602	rs199811696	0.0022	0.0021	0.0022	0.0022	0.0024	0.0021	0.0021	0.0023	0.0023	0.0004	0.0004	0	0	0.0051	0.0007	0.0024	0.0015	0.0006	0.0020	0.0021	0.0022	0.0019	0.0033	0.0019	0.0018	0.0030	0.0028	0.0004	0	0.0008	0	0	0.0051	0	0.0033	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0384784	0.56847	T	0.283036	0.87288	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.325442	0.89380	30	0.99551436579381158	0.71148	0.97667	0.76276	D	AEFI	.	.	.	1.14232583742614	0.98844	19.58968	0.986511874353867	0.98349	18.03835	0.999999991350419	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.078618	0.02440	0	0.057018	0.00518	0	0.986797	0.95047	5.27	5.27	0.73797	7.668000	0.82869	9.770000	0.81549	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.483	0.90769	932	0.16191	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	540.43	34	chr4	185431981	.	G	T	540.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.753;DP=323;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-2;SOR=0.941	GT:AD:DP:GQ:PL	0/1:19,19:38:99:552,0,481	9	0	1	0
chr4	185458801	185458801	G	T	exonic	CCDC110	.	nonsynonymous SNV	CCDC110:NM_001145411:exon5:c.C1675A:p.L559I,CCDC110:NM_152775:exon6:c.C1786A:p.L596I	.	870	651	1	0	0	1	0.00076746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0101978936003	0.0017	.	0.0019	0.0002	0.0003	0	0.0055	0.0028	0.0011	0.0004	0.0018046	279	154602	rs34739951	0.0017	0.0017	0.0017	0.0017	0.0019	0.0017	0.0016	0.0018	0.0018	0.0003	0.0004	0	0	0.0048	0.0007	0.0019	0.0014	0.0004	0.0016	0.0016	0.0017	0.0015	0.0023	0.0014	0.0014	0.0020	0.0019	0.0004	0	0.0009	0	0	0.0051	0.0103	0.0023	0.0014	0	0.088	0.34269	T	0.196	0.27943	T	0.973	0.57599	D	0.73	0.55268	P	0.097662	0.20016	N	0.359994	1	0.08975	N	2.595	0.75868	M	1.42	0.33189	T	-0.52	0.16799	N	0.355	0.39659	-1.0478	0.15016	T	0.089	0.34216	T	10	0.006053984	0.00136	T	0.010198	0.26456	T	0.082	0.23913	.	.	0.173771789658	0.16945	0.07411402741532032	0.07348	0.45845590994	0.45458	0.414809584618	0.27122	T	0.005224	0.15260	T	-0.530908	0.00379	T	-0.539067	0.18389	T	0.0277346997257988	0.01649	T	0.776122	0.40827	T	0.048422784	0.08436	0.04904962	0.07414	0.048422784	0.08435	0.04904962	0.07414	-3.989	0.23639	T	.	.	0.088	0.13362	B	.;.;.	.;.;.	1.622276	0.20720	14.88	0.98725095905510241	0.45259	0.03545	0.08742	N	AEFI	0.045571	0.07468	N	-0.0286496072383525	0.40562	2.410871	-0.148985467089346	0.33447	1.913366	0.992643380137893	0.32916	0.554377	0.28877	0	0.541556	0.11502	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.55	1.59	0.22622	0.063000	0.14285	2.471000	0.32897	0.676000	0.76740	0.052000	0.21487	1.000000	0.68203	0.828000	0.39026	0.1604:0.2481:0.4092:0.1823	1.839	0.02955	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	969.43	59	chr4	185458801	.	G	T	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.73;DP=492;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.612;SOR=0.741	GT:AD:DP:GQ:PL	0/1:34,35:69:99:981,0,991	9	0	1	0
chr4	186597074	186597074	C	T	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon25:c.G12466A:p.E4156K	.	.	.	.	.	.	.	.	.	.	.	1897662	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.410	0.0565253883629	0.0004	.	6.629e-05	0.0005	8.645e-05	0	0	1.5e-05	0.0011	0	5.17e-05	8	154602	rs199692977	2.805e-05	2.805e-05	1.906e-05	3.713e-05	0.0004	2.087e-05	1.878e-05	0.0002	0.0002	0.0004	4.472e-05	0	0	0	0.0002	2.248e-05	0	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.665e-05	7.257e-05	0.0003	0.0002	0.0004	0	6.543e-05	0	0	0	0	1.47e-05	0	0	0.326	0.13306	T	0.013	0.63109	D	0.769	0.43848	P	0.183	0.35961	B	0.000038	0.55875	D	0.159431	0.999321	0.46670	D	1.09	0.27330	L	-2.94	0.91851	D	-0.67	0.19297	N	0.404	0.48689	0.212	0.86115	D	0.593	0.85451	D	10	0.21454215	0.37980	T	0.056525	0.66635	D	0.410	0.72176	.	.	0.73673398233	0.73438	0.6651863676784127	0.66455	0.172189131585	0.19394	0.493432074785	0.37915	T	0.117867	0.43827	T	-0.208621	0.19574	T	-0.183412	0.56205	T	0.0290575065457418	0.01845	T	0.943706	0.78720	D	0.08953707	0.20922	0.11142302	0.26876	0.08953707	0.20922	0.11142302	0.26875	-4.743	0.33920	T	.	.	0.081	0.08465	B	.;.	.;.	3.224389	0.43945	21.8	0.99672782265241711	0.78717	0.94136	0.60221	D	AEFBCI	0.768894	0.70432	D	0.196946248058389	0.51053	3.289683	0.283717183706064	0.54589	3.62338	0.999999999998474	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	4.86	4.86	0.62624	6.172000	0.71841	4.893000	0.45784	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.848000	0.40082	0.0:1.0:0.0:0.0	18.166	0.89656	881	0.29269	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1139.43	34	chr4	186597074	.	C	T	1139.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=418;ExcessHet=0;FS=3.573;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.639;SOR=0.414	GT:AD:DP:GQ:PL	0/1:66,46:112:99:1151,0,1625	9	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	0.4	523.98	19	chr4	189953101	.	C	T	523.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.414;DP=145;ExcessHet=10.3881;FS=0.939;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=52.97;MQRankSum=-2.362;QD=4.52;ReadPosRankSum=0.851;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,4:17:99:0|1:189953101_C_T:129,0,509:189953101	2	0	8	0
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	503.01	15	chr4	189953126	.	G	T	503.01	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.366;DP=136;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6672;MLEAC=8;MLEAF=0.4;MQ=52.73;MQRankSum=-2.287;QD=4.57;ReadPosRankSum=0.492;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,4:18:99:0|1:189953101_C_T:126,0,532:189953101	2	0	8	0
chr5	484656	484656	C	T	exonic	SLC9A3	.	nonsynonymous SNV	SLC9A3:NM_001284351:exon5:c.G796A:p.V266M,SLC9A3:NM_004174:exon5:c.G796A:p.V266M	Diarrhea 8, secretory sodium, congenital, Autosomal recessive	421	1078	21	2	0	25	0.0114626	.	.	YES	1072823	not_provided|SLC9A3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0213898244609	0.0006	0.000399361	0.0012	0.0002	0.0011	0	0	0.0014	0.0034	0.0019	0.0010155	157	154602	rs140474355	0.0009	0.0009	0.0008	0.0009	0.0085	0.0008	0.0008	0.0066	0.0059	5.974e-05	0.0011	0.0055	2.519e-05	3.817e-05	0.0085	0.0007	0.0015	0.0019	0.0008	0.0008	0.0007	0.0008	0.0016	0.0006	0.0006	0.0011	0.0009	4.809e-05	0	0.0016	0.0063	0	0	0.0068	0.0009	0	0.0012	0.002	0.72154	D	0.008	0.67890	D	0.942	0.52977	P	0.826	0.59373	P	0.216980	0.16229	N	0.617305	1	0.08975	N	2.085	0.57729	M	2.22	0.18248	T	-1.53	0.37759	N	0.328	0.37301	-1.0776	0.07821	T	0.071	0.29066	T	10	0.01545018	0.00324	T	0.02139	0.44151	T	0.053	0.14996	.	.	0.292942362817	0.28906	0.4457684819745284	0.44494	1.85953752139	0.92388	0.435315996408	0.29936	T	0.135649	0.46757	T	-0.553641	0.00277	T	-0.574828	0.15009	T	0.0364475923392912	0.03058	T	0.865513	0.57764	D	0.15742323	0.35472	0.1525973	0.35895	0.15742323	0.35471	0.1525973	0.35894	-7.097	0.55445	T	.	.	0.121	0.25166	B	.;.;.	.;.;.	1.897887	0.24102	16.27	0.99775695929055008	0.86346	0.02601	0.07169	N	AEFDGBI	0.098318	0.19814	N	-0.162198626822734	0.34716	1.985005	-0.314998690435138	0.27615	1.533542	0.108151430030521	0.16575	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.45	2.31	0.27816	-0.588000	0.05867	-0.950000	0.06817	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.725000	0.34934	0.0:0.5039:0.1909:0.3051	4.255	0.10164	895	0.25842	Cation/H+ exchanger;Cation/H+ exchanger;.	.	.	.	.	.	Likely benign	0	0	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	0.005061	0.000000	0.002732	0.000000	0.000000	0.025862	0.003106	0.007634	0.05	1635.43	37	chr5	484656	.	C	T	1635.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.835;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.101;SOR=0.762	GT:AD:DP:GQ:PL	0/1:44,66:110:99:1647,0,1030	9	0	1	0
chr5	35876422	35876422	C	G	exonic	IL7R	.	nonsynonymous SNV	IL7R:NM_002185:exon8:c.C1316G:p.T439S	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	721440	Immunodeficiency_104	MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.00974582969322	0.0002	0.000199681	0.0004	0.0002	0.0005	0	0	0.0005	0.0011	0.0005	0.0003881	60	154602	rs148931962	0.0003	0.0003	0.0003	0.0003	0.0052	0.0003	0.0003	0.0037	0.0032	2.987e-05	0.0005	0	0	0	0.0052	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0002	0.0006	0.0005	0.0001	0	0.0010	0	0	0	0.0102	0.0004	0.0009	0.0004	0.41	0.10148	T	0.663	0.06448	T	0.024	0.19075	B	0.005	0.11217	B	0.840524	0.09037	N	0.933160	1	0.30258	N	1.095	0.27400	L	1.83	0.24841	T	-0.25	0.11008	N	0.05	0.02179	-0.9711	0.36967	T	0.103	0.37969	T	10	0.025248855	0.00725	T	0.009746	0.25449	T	0.113	0.31778	0.59	0.71874	0.491317756052	0.48765	0.33545629895792106	0.33458	0.0165124899938	0.01591	0.342507779598	0.16813	T	0.145413	0.48253	T	-0.446732	0.01180	T	-0.538927	0.18402	T	0.0183760260577019	0.00555	T	0.437256	0.12012	T	0.08174318	0.18799	0.048332345	0.07155	0.07035484	0.15490	0.052422184	0.08632	-2.977	0.09935	T	0.4053687355797069	0.49654	0.094	0.14568	B	.	.	0.845452	0.12176	8.721	0.89456034914060323	0.18812	0.08904	0.14761	N	AEFGBCI	0.061057	0.11646	N	-0.66506239173422	0.17023	0.8724526	-0.673575151583588	0.17623	0.937902	0.999998903750716	0.74766	0.653281	0.48532	0	0.616935	0.53198	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.46	4.57	0.55860	0.426000	0.21081	1.775000	0.28667	0.599000	0.40250	0.049000	0.21372	0.277000	0.24084	0.082000	0.17360	0.0:0.8264:0.1736:0.0	12.068	0.52899	645	0.63593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1614.43	34	chr5	35876422	.	C	G	1614.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.1;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=-0.583;SOR=0.772	GT:AD:DP:GQ:PL	0/1:42,55:97:99:1626,0,1040	9	0	1	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L,NIPBL:NM_133433:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	57.27	114	chr5	36976312	.	G	C	57.27	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.656;DP=1135;ExcessHet=0.2348;FS=188.233;InbreedingCoeff=-0.2172;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=1.84;SOR=9.17	GT:AD:DP:GQ:PL	0/1:117,33:155:54:54,0,2205	5	0	2	3
chr5	40746862	40746862	C	G	exonic	TTC33	.	nonsynonymous SNV	TTC33:NM_012382:exon2:c.G157C:p.E53Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00809337692221	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1192514658	5.472e-06	5.472e-06	5.445e-06	5.5e-06	7.194e-06	2.35e-06	1.7e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.0	0.92824	D	0.037	0.20876	B	0.029	0.21540	B	0.000000	0.84330	N	0.052654	0.999999	0.58761	D	1.1	0.28011	L	1.23	0.36872	T	-1.68	0.40082	N	0.214	0.23884	-1.0814	0.07079	T	0.074	0.29770	T	10	0.19789615	0.35739	T	0.008093	0.21444	T	0.047	0.12962	0.277	0.23004	0.430923071578	0.42714	0.584815732404343	0.58411	0.207471838488	0.23208	0.43230304122	0.29523	T	0.137962	0.60357	T	-0.170539	0.25151	T	-0.482744	0.24154	T	0.495604827465467	0.32469	T	0.820918	0.48005	T	0.31612772	0.54311	0.1919027	0.42675	0.31612772	0.54311	0.1919027	0.42674	-3.725	0.19688	T	.	.	0.145	0.33110	B	.;.;.;.	.;.;.;.	2.834785	0.37382	20.5	0.99089983278878768	0.52198	0.90165	0.51129	D	AEFDGBHCI	0.633087	0.61345	D	-0.134909164601774	0.35880	2.066532	0.0354860317273952	0.41375	2.484725	0.99999999427729	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.677038	0.66255	0	.	.	5.64	3.72	0.41857	3.751000	0.54882	2.640000	0.33748	0.599000	0.40250	1.000000	0.71638	0.993000	0.31925	0.994000	0.71098	0.0:0.7388:0.2612:0.0	15.558	0.75956	332	0.86382	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1056.43	34	chr5	40746862	.	C	G	1056.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.588;DP=424;ExcessHet=0;FS=5.259;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.037;SOR=0.346	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1068,0,1279	9	0	1	0
chr5	40853596	40853596	G	A	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.G2264A:p.R755H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00195146281199	0.0002	0.000199681	0.0002	0.0003	0	0.0001	0	6.025e-05	0	0.0011	0.0001746	27	154602	rs149994770	0.0001	0.0001	9.528e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	2.987e-05	0	0	2.519e-05	0	0	8.273e-05	9.934e-05	0.0013	9.85e-05	9.843e-05	8.993e-05	0.0001	0.0010	6.003e-05	4.877e-05	0.0004	0.0003	4.815e-05	0	6.534e-05	0	0	0	0	0.0001	0	0.0010	0.282	0.15406	T	0.032	0.53426	D	0.0	0.02946	B	0.0	0.01387	B	0.288448	0.03878	N	1.465160	1	0.08975	N	-0.345	0.03330	N	2.72	0.11947	T	0.01	0.06868	N	0.024	0.00445	-0.9941	0.31538	T	0.015	0.06042	T	10	0.0071148574	0.00162	T	0.001951	0.03482	T	0.010	0.01040	.	.	0.0806252709748	0.07271	0.06352276612269336	0.06291	0.029448456413	0.03029	0.221299916506	0.01386	T	0.002524	0.01914	T	-0.70568	0.00034	T	-0.831988	0.01227	T	0.00445565169489112	0.00048	T	0.436356	0.11970	T	0.014942046	0.00115	0.01612082	0.00013	0.014942046	0.00115	0.01612082	0.00013	-4.293	0.28079	T	.	.	0.064	0.01738	B	.	.	0.757320	0.11270	7.897	0.48916411735135601	0.04121	0.01691	0.05388	N	AEFBI	0.064638	0.12563	N	-1.81244234682348	0.00515	0.02218589	-1.77664648019421	0.00837	0.03738388	0.992123365681805	0.32727	0.706548	0.73137	0	0.588015	0.36545	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.03	-1.02	0.09618	0.128000	0.15636	-0.327000	0.09919	-1.024000	0.01719	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2281:0.2239:0.3352:0.2127	1.127	0.01630	479	0.77495	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1752.43	42	chr5	40853596	.	G	A	1752.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.694;DP=464;ExcessHet=0;FS=2.573;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=0.822;SOR=0.465	GT:AD:DP:GQ:PL	0/1:43,66:109:99:1764,0,1093	9	0	1	0
chr5	50428224	50428224	G	A	exonic	EMB	.	nonsynonymous SNV	EMB:NM_198449:exon2:c.C116T:p.S39L	.	436	1080	5	1	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0035	0.00159744	0.0038	0.0009	0.0030	0	0.0147	0.0045	0.0011	0.0008	0.0038486	595	154602	rs147510643	0.0045	0.0046	0.0045	0.0045	0.0049	0.0044	0.0044	0.0048	0.0048	0.0009	0.0027	0.0006	0	0.0131	0.0016	0.0049	0.0033	0.0009	0.0045	0.0045	0.0038	0.0053	0.0055	0.0042	0.0041	0.0050	0.0048	0.0013	0	0.0029	0	0	0.0186	0	0.0055	0.0052	0.0008	0.163	0.23450	T	0.026	0.55759	D	0.052	0.22494	B	0.003	0.08700	B	0.786531	0.09430	N	0.882556	1	0.24881	N	0.345	0.11182	N	0.76	0.57100	T	-0.61	0.18042	N	0.266	0.32591	-1.0417	0.16800	T	0.074	0.29992	T	9	0.0028268099	0.00045	T	.	.	.	0.069	0.20116	.	.	0.332386209738	0.32853	0.5027389072733729	0.50195	0.281622849585	0.30635	0.441197484732	0.30740	T	0.050916	0.28731	T	-0.55164	0.00285	T	-0.559055	0.16465	T	0.0139289766706949	0.00266	T	0.50265	0.15781	T	0.03727929	0.04748	0.06745644	0.13957	0.03727929	0.04748	0.06745644	0.13956	-3.493	0.16334	T	.	.	0.090	0.18828	B	.;.	.;.	1.364660	0.17740	13.34	0.88639469207132471	0.18136	0.10194	0.15768	N	AEFDBI	0.086520	0.17542	N	-1.05553689277862	0.07479	0.3475867	-1.01151927232117	0.09531	0.4747319	0.99998990671297	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.75	3.87	0.43823	1.828000	0.38750	2.209000	0.31352	-0.104000	0.15758	0.073000	0.22155	0.503000	0.25215	0.933000	0.47100	0.0902:0.0:0.9098:0.0	12.105	0.53108	786	0.46839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	1655.43	34	chr5	50428224	.	G	A	1655.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.127;DP=449;ExcessHet=0;FS=3.041;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.08;SOR=0.464	GT:AD:DP:GQ:PL	0/1:73,69:142:99:1667,0,1725	9	0	1	0
chr5	54985490	54985490	G	A	exonic	ESM1	.	nonsynonymous SNV	ESM1:NM_001135604:exon1:c.C28T:p.L10F,ESM1:NM_007036:exon1:c.C28T:p.L10F	.	430	1087	4	1	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0029	0.00499201	0.0020	0.0086	0.0046	0	0	0.0013	0.0059	0.0008	0.0018758	290	154602	rs142082865	0.0012	0.0012	0.0012	0.0012	0.0204	0.0012	0.0011	0.0174	0.0163	0.0069	0.0041	0.0082	2.541e-05	1.894e-05	0.0204	0.0007	0.0030	0.0008	0.0031	0.0031	0.0033	0.0029	0.0076	0.0029	0.0028	0.0069	0.0066	0.0076	0	0.0035	0.0115	0	0	0.0068	0.0008	0.0043	0.0004	0.091	0.31834	T	0.129	0.34837	T	0.289	0.32288	B	0.048	0.24975	B	0.000200	0.48115	D	0.142736	0.999981	0.54805	D	2.405	0.69568	M	.	.	.	-1.22	0.31170	N	0.292	0.33030	-0.8378	0.52793	T	0.153	0.48188	T	9	0.0085989535	0.00195	T	.	.	.	0.077	0.22490	.	.	0.184867976434	0.18130	0.5334456563168988	0.53269	1.61682442182	0.89012	0.40306198597	0.25495	T	0.041605	0.25913	T	-0.33942	0.05429	T	-0.256325	0.49189	T	0.0155705211096394	0.00355	T	0.764923	0.39208	T	0.08280162	0.19091	0.10984461	0.26479	0.08280162	0.19091	0.10984461	0.26478	-4.998	0.38666	T	.	.	0.077	0.06250	B	.;.;.	.;.;.	3.059747	0.41082	21.3	0.93920670122301297	0.23962	0.88168	0.47977	D	ALL	0.666670	0.63505	D	0.0497301230809387	0.44130	2.692704	0.128089132141046	0.45991	2.852636	0.999999999999905	0.74766	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.56214	0.19341	0	.	.	5.66	4.78	0.60666	4.417000	0.59573	7.337000	0.58231	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	0.142:0.0:0.858:0.0	11.108	0.47437	402	0.82617	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027190	0.060606	0.027174	0.052632	0.050000	0.025862	0.000000	0.003788	0.05	551.43	34	chr5	54985490	.	G	A	551.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.871;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1.39;SOR=0.582	GT:AD:DP:GQ:PL	0/1:31,23:54:99:563,0,849	9	0	1	0
chr5	55910570	55910570	G	A	exonic	IL31RA	.	nonsynonymous SNV	IL31RA:NM_001242636:exon12:c.G1483A:p.E495K,IL31RA:NM_001242637:exon12:c.G1540A:p.E514K,IL31RA:NM_139017:exon12:c.G1540A:p.E514K,IL31RA:NM_001242639:exon13:c.G1114A:p.E372K,IL31RA:NM_001242638:exon14:c.G1483A:p.E495K	Amyloidosis, primary localized cutaneous, 2, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0300446041285	0.0012	0.00179712	0.0009	0.0034	0.0029	0	0	0.0006	0.0022	0.0002	0.0009185	142	154602	rs113369650	0.0007	0.0007	0.0007	0.0007	0.0111	0.0006	0.0006	0.0089	0.0081	0.0031	0.0039	3.826e-05	0	0	0.0111	0.0005	0.0022	0.0002	0.0016	0.0016	0.0017	0.0016	0.0041	0.0015	0.0014	0.0033	0.0030	0.0033	0	0.0041	0	0	0	0.0170	0.0005	0.0047	0.0002	0.029	0.45756	D	0.0	0.92824	D	0.884	0.48618	P	0.54	0.48825	P	0.108006	0.19545	N	0.554060	0.94322	0.26728	N	.	.	.	0.41	0.57100	T	-1.65	0.39503	N	0.113	0.16586	-0.8852	0.49340	T	0.183	0.53148	T	10	0.0093584955	0.00211	T	0.030045	0.52439	D	0.202	0.48754	.	.	0.301455362545	0.29754	.	.	0.154396533391	0.17441	0.350457757711	0.17989	T	.	.	.	-0.456271	0.01036	T	-0.430284	0.29903	T	0.0214538987493933	0.00849	T	0.79572	0.44511	T	.	.	.	.	.	.	.	.	-5.377	0.41709	T	.	.	0.104	0.22171	B	.;.;.;.;.;.	.;.;.;.;.;.	2.576199	0.33391	19.33	0.99844243310187597	0.92403	0.63633	0.32150	D	AEFBI	0.084891	0.17208	N	0.126231928112726	0.47689	2.99111	0.0786502570247455	0.43475	2.648606	0.997263515537457	0.35436	0.615465	0.37627	0	0.547309	0.14657	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.01	3.2	0.35826	2.264000	0.42959	3.147000	0.36508	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.763000	0.36255	0.1802:0.1713:0.6485:0.0	5.214	0.14653	891	0.26808	.;.;.;.;.;.	.	.	.	.	.	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	0.014099	0.035354	0.014946	0.014620	0.050000	0.034483	0.000000	0.003788	0.05	880.43	33	chr5	55910570	.	G	A	880.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.628;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-2.517;SOR=0.648	GT:AD:DP:GQ:PL	0/1:41,38:79:99:892,0,1055	9	0	1	0
chr5	55954959	55954959	G	C	exonic	IL6ST	.	nonsynonymous SNV	IL6ST:NM_001364279:exon9:c.C305G:p.P102R,IL6ST:NM_001364278:exon10:c.C398G:p.P133R,IL6ST:NM_001364275:exon11:c.C1301G:p.P434R,IL6ST:NM_001364276:exon11:c.C1091G:p.P364R,IL6ST:NM_001364277:exon11:c.C434G:p.P145R,IL6ST:NM_002184:exon11:c.C1301G:p.P434R	.	434	1079	9	0	0	9	0.00415321	.	.	.	1155139	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.350	0.0409083545919	0.0007	0.000798722	0.0011	0	0.0003	0	0	0.0018	0.0033	0.0006	0.0010155	157	154602	rs140433866	0.0008	0.0008	0.0007	0.0008	0.0042	0.0007	0.0007	0.0029	0.0024	0.0001	0.0004	0.0142	0	0.0001	0.0042	0.0005	0.0018	0.0005	0.0010	0.0010	0.0010	0.0011	0.0010	0.0009	0.0008	0.0007	0.0006	0	0.0253	0.0010	0.0147	0	9.455e-05	0.0136	0.0008	0.0009	0.0006	0.02	0.49613	D	0.007	0.69154	D	1.0	0.90584	D	0.989	0.78396	D	0.000013	0.62929	D	0.153955	0.999999	0.81001	D	2.97	0.85306	M	1.26	0.36330	T	-3.91	0.73042	D	0.77	0.76946	-0.6579	0.62368	T	0.235	0.60185	T	10	0.02991128	0.01117	T	0.040908	0.59636	D	0.350	0.67142	.	.	0.763000172505	0.76084	0.8712546125735658	0.87091	0.583545166247	0.54064	0.46848577261	0.34472	T	0.673583	0.90338	D	-0.031071	0.47262	T	0.142059	0.79678	D	0.0807639962290891	0.10085	T	0.812919	0.46506	T	0.66293705	0.76056	0.29572842	0.55605	0.66293705	0.76057	0.29572842	0.55604	-9.836	0.72924	D	.	.	0.471	0.63253	A	.;.;.	.;.;.	4.610175	0.73108	25.9	0.99782792603395087	0.86955	0.93260	0.57744	D	AEFBCI	0.683982	0.64648	D	0.722374801316952	0.81100	7.443585	0.690333920104024	0.81645	7.575264	0.998144260632139	0.36487	0.67177	0.52595	0	0.653731	0.59785	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.94	5.08	0.68373	6.784000	0.74858	11.663000	0.94010	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0676:0.0:0.9324:0.0	15.098	0.71917	824	0.40336	Long hematopoietin receptor, Gp130 family 2, conserved site|Fibronectin type III|Fibronectin type III;Long hematopoietin receptor, Gp130 family 2, conserved site|Fibronectin type III|Fibronectin type III;Long hematopoietin receptor, Gp130 family 2, conserved site|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.010101	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	789.43	33	chr5	55954959	.	G	C	789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.383;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.97;SOR=0.6	GT:AD:DP:GQ:PL	0/1:43,35:78:99:801,0,1145	9	0	1	0
chr5	56946980	56946980	C	G	exonic	MIER3	.	nonsynonymous SNV	MIER3:NM_001297598:exon3:c.G141C:p.E47D,MIER3:NM_001297599:exon3:c.G126C:p.E42D,MIER3:NM_152622:exon3:c.G126C:p.E42D	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0496324848157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.38407	T	0.122	0.36901	T	0.996	0.68779	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.76	0.80626	M	1.78	0.25678	T	-1.98	0.45769	N	0.552	0.59223	-0.9482	0.41279	T	0.138	0.45621	T	10	0.33170018	0.50388	T	0.049632	0.63897	D	0.247	0.55478	0.386	0.40624	0.179529687257	0.17594	0.32313601543325343	0.32226	1.27724802851	0.82438	0.721207678318	0.70223	T	0.071461	0.34214	T	-0.105792	0.35466	T	-0.38974	0.34582	T	0.97898131608963	0.72599	D	0.910809	0.96290	D	0.18547371	0.39911	0.17362513	0.39703	0.18547371	0.39911	0.17362513	0.39702	-9.735	0.72310	D	.	.	0.886	0.83571	P	.;.;.;.	.;.;.;.	2.662957	0.34696	19.70	0.99499073261348292	0.67916	0.78719	0.38880	D	AEFBI	0.414593	0.48379	N	0.0275003151487531	0.43108	2.610278	-0.0971966707643871	0.35505	2.054991	0.684044935099548	0.22513	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.6	-1.63	0.07900	-0.035000	0.12156	0.373000	0.17698	-0.242000	0.07441	0.806000	0.29799	0.994000	0.32194	0.996000	0.76049	0.0:0.5153:0.0:0.4847	11.953	0.52251	951	0.11083	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	489.43	34	chr5	56946980	.	C	G	489.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.263;DP=413;ExcessHet=0;FS=1.856;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.5;ReadPosRankSum=0.138;SOR=0.922	GT:AD:DP:GQ:PL	0/1:62,27:89:99:501,0,1683	9	0	1	0
chr5	67183240	67183240	C	G	exonic	CD180	.	nonsynonymous SNV	CD180:NM_005582:exon3:c.G1603C:p.D535H	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0302429804276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.473e-06	5.472e-06	4.084e-06	6.876e-06	0.0003	2.35e-06	1.7e-06	6.096e-05	2.522e-05	5.974e-05	0	0	0	0	0.0003	0	4.968e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.19782	T	0.335	0.18286	T	0.831	0.46109	P	0.331	0.42107	B	0.493606	0.05050	N	1.318910	1	0.08975	N	1.995	0.54099	M	0.42	0.56937	T	-0.69	0.19720	N	0.116	0.10483	-0.9023	0.47749	T	0.111	0.39912	T	10	0.16455913	0.30782	T	0.030243	0.52598	D	0.058	0.16647	.	.	0.716849003213	0.71436	0.3032965129840336	0.30242	0.202067841752	0.22620	0.244355380535	0.03197	T	0.048609	0.28067	T	-0.256232	0.13345	T	-0.605836	0.12326	T	0.167713921517034	0.18423	T	0.734627	0.35069	T	0.12790844	0.29918	0.07742915	0.17249	0.12790844	0.29917	0.07742915	0.17248	-3.775	0.20432	T	.	.	0.102	0.17785	B	.	.	-0.139396	0.03414	0.620	0.54542589138377984	0.05159	0.02870	0.07642	N	AEFDBI	0.060966	0.11623	N	-0.792829276673724	0.13496	0.6652633	-1.03626404013561	0.08995	0.4451462	0.999998814246035	0.74766	0.536767	0.22168	0	0.383324	0.06291	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	4.95	-6.85	0.01521	-0.215000	0.09284	-1.785000	0.04731	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.1613:0.1418:0.0788:0.6181	4.301	0.10369	954	0.10045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2006.43	44	chr5	67183240	.	C	G	2006.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=539;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.594;SOR=0.72	GT:AD:DP:GQ:PL	0/1:78,73:151:99:2018,0,1995	9	0	1	0
chr5	73568301	73568301	A	G	exonic	UTP15	.	nonsynonymous SNV	UTP15:NM_001284430:exon3:c.A100G:p.N34D,UTP15:NM_032175:exon3:c.A157G:p.N53D	.	487	1034	1	0	0	1	0.000483325	.	.	.	3487796	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.0133826444156	0.0005	0.000199681	0.0003	0	8.652e-05	0	0.0005	0.0004	0.0011	0.0002	0.0002911	45	154602	rs139096826	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0	0.0001	0	0	0.0006	0	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	2.407e-05	0	6.533e-05	0	0	9.422e-05	0	0.0004	0	0	0.169	0.22920	T	0.026	0.55759	D	0.799	0.44910	P	0.214	0.37471	B	0.000000	0.84330	D	0.089021	0.999976	0.81001	D	1.585	0.39878	L	2.24	0.18083	T	-1.68	0.40082	N	0.641	0.70878	-1.0969	0.04487	T	0.031	0.13504	T	10	0.106333196	0.19700	T	0.013383	0.32738	T	0.101	0.28911	.	.	0.387475297304	0.38358	0.7065261317910583	0.70594	0.544725754754	0.51518	0.717887103558	0.69738	T	0.044518	0.26842	T	-0.34114	0.05310	T	-0.397799	0.33641	T	0.0512607060372829	0.05720	T	0.872513	0.57956	D	0.24368821	0.47310	0.1821432	0.41123	0.24368821	0.47310	0.1821432	0.41122	-4.979	0.36611	T	.	.	0.184	0.45421	B	.;.;.	.;.;.	2.980449	0.39752	21.0	0.99335296029079323	0.59934	0.97095	0.72660	D	AEBI	0.731821	0.67878	D	0.16361378353857	0.49458	3.145995	0.252886023419325	0.52813	3.453711	0.999999945192141	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.55	4.36	0.51643	5.717000	0.68096	9.263000	0.79575	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8618:0.1382:0.0:0.0	12.645	0.56093	961	0.08552	.;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	989.43	34	chr5	73568301	.	A	G	989.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.886;DP=343;ExcessHet=0;FS=3.357;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-1.604;SOR=0.374	GT:AD:DP:GQ:PL	0/1:32,36:68:99:1001,0,857	9	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	.	.	.	.	.	.	.	.	0.25	338.25	123	chr5	75146001	.	A	G	338.25	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.389;DP=800;ExcessHet=2.8389;FS=86.742;InbreedingCoeff=-0.316;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.96;SOR=9.297	GT:AD:DP:GQ:PL	0/1:100,18:118:7:7,0,2194	5	0	5	0
chr5	76285243	76285243	C	T	exonic	SV2C	.	nonsynonymous SNV	SV2C:NM_001297716:exon5:c.C995T:p.S332F,SV2C:NM_014979:exon5:c.C995T:p.S332F	.	424	1074	23	1	0	25	0.0115048	.	.	.	2827844	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.0163521778605	0.0053	0.00219649	0.0046	0.0003	0.0023	0	0.0021	0.0061	0.0078	0.0060	0.0047153	729	154602	rs149463986	0.0059	0.0059	0.0057	0.0060	0.0113	0.0058	0.0057	0.0091	0.0083	0.0008	0.0027	0.0011	2.519e-05	0.0030	0.0113	0.0067	0.0045	0.0060	0.0042	0.0042	0.0043	0.0040	0.0068	0.0039	0.0038	0.0063	0.0061	0.0010	0	0.0039	0.0012	0	0.0023	0.0170	0.0068	0.0062	0.0054	0.175	0.22400	T	0.189	0.29843	T	0.0	0.02946	B	0.005	0.11217	B	0.022539	0.26616	N	0.412562	0.99982	0.49512	D	0.02	0.07987	N	0.39	0.57419	T	-0.57	0.18042	N	0.469	0.50598	-1.0600	0.11756	T	0.041	0.17742	T	10	0.009606004	0.00216	T	0.016352	0.37564	T	0.077	0.22490	.	.	0.405012372841	0.40113	0.8780365303129526	0.87770	0.166212738228	0.18754	0.5557076931	0.46661	T	0.054647	0.40875	T	-0.485639	0.00687	T	-0.463824	0.26184	T	0.00728564009858904	0.00083	T	0.660434	0.26965	T	0.07924424	0.18093	0.09455559	0.22386	0.07924424	0.18093	0.09455559	0.22386	-8.641	0.65359	D	.	.	0.071	0.17146	B	.;.	.;.	1.096062	0.14803	11.34	0.96057149006519471	0.28582	0.21526	0.21433	N	AEFI	0.212130	0.33785	N	-1.16349295452205	0.05561	0.2538508	-1.09862833464109	0.07728	0.3770321	0.0243861509171772	0.13575	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.75	-2.21	0.06581	0.447000	0.21428	-0.860000	0.07144	-0.305000	0.06155	0.097000	0.22731	0.000000	0.08366	0.990000	0.65344	0.0:0.3758:0.559:0.0652	13.509	0.60956	906	0.23090	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.005051	0.006793	0.002924	0.000000	0.000000	0.012195	0.003788	0.05	1488.43	34	chr5	76285243	.	C	T	1488.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.206;DP=466;ExcessHet=0;FS=2.912;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-1.627;SOR=0.983	GT:AD:DP:GQ:PL	0/1:91,63:154:99:1500,0,2444	9	0	1	0
chr5	76627451	76627451	A	G	exonic	IQGAP2	.	nonsynonymous SNV	IQGAP2:NM_001285461:exon3:c.A222G:p.I74M,IQGAP2:NM_001285462:exon3:c.A222G:p.I74M,IQGAP2:NM_001285460:exon13:c.A1413G:p.I471M,IQGAP2:NM_006633:exon14:c.A1563G:p.I521M	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.0432638540728	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs754896825	4.133e-06	5.476e-06	6.861e-06	1.383e-06	.	1.49e-06	9.8e-07	.	.	0	0	0.0002	0	0	0	0	1.665e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.92824	D	0.999	0.90584	D	0.973	0.82059	D	0.000000	0.84330	D	0.051230	0.984651	0.46223	D	2.955	0.85029	M	0.83	0.47815	T	-2.32	0.55821	N	0.666	0.75834	-0.4935	0.68883	T	0.283	0.65478	T	10	0.4907403	0.60976	T	0.043264	0.60895	D	0.419	0.72855	0.57	0.69299	0.602402279407	0.59922	0.6711475042217172	0.67052	0.571411642991	0.53264	0.586928665638	0.51061	T	0.648344	0.89298	D	0.166244	0.70779	D	0.00102192	0.70403	D	0.83276093006134	0.48745	D	0.929907	0.78031	D	0.5145717	0.67946	0.5038829	0.71322	0.5145717	0.67947	0.5038829	0.71323	-8.914	0.77665	D	.	.	0.272	0.57890	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.686131	0.35051	19.80	0.99628720442383578	0.75898	0.79819	0.39629	D	AEFBI	0.438564	0.49790	N	0.339809323904124	0.58202	3.99133	0.215172417906464	0.50689	3.258351	0.989969587570186	0.31991	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.92	0.722	0.17379	0.840000	0.27253	1.697000	0.28107	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.5318:0.4682:0.0:0.0	11.699	0.50822	801	0.44448	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1886.43	36	chr5	76627451	.	A	G	1886.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.074;DP=419;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.86;ReadPosRankSum=-1.285;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,49:95:99:0|1:76627451_A_G:1898,0,1727:76627451	9	0	1	0
chr5	83537607	83537607	A	G	exonic	VCAN	.	nonsynonymous SNV	VCAN:NM_001164097:exon7:c.A1643G:p.E548G,VCAN:NM_004385:exon8:c.A4604G:p.E1535G	Wagner syndrome 1, Autosomal dominant	1	1515	6	0	0	6	0.00197628	.	.	.	177232	Vitreoretinopathy|Wagner_syndrome|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290|Human_Phenotype_Ontology:HP:0030673,MONDO:MONDO:0007740,MedGen:C1840452,OMIM:143200,Orphanet:898|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.194	0.0247979338115	0.0042	0.00179712	0.0030	0.0013	0.0018	0	0.0003	0.0049	0	6.066e-05	0.0032276	499	154602	rs61749614	0.0040	0.0040	0.0042	0.0038	0.0075	0.0039	0.0039	0.0057	0.0051	0.0008	0.0028	0.0012	0	0.0002	0.0075	0.0049	0.0034	0.0002	0.0031	0.0031	0.0035	0.0026	0.0048	0.0028	0.0028	0.0044	0.0042	0.0007	0.0362	0.0035	0.0032	0	9.409e-05	0.0034	0.0048	0.0028	0.0004	0.265	0.16574	T	0.464	0.30143	T	0.012	0.18474	B	0.006	0.14300	B	0.218571	0.16193	N	0.607030	1	0.08975	N	1.1	0.28011	L	-2.03	0.85875	D	-0.62	0.30346	N	0.081	0.05670	-0.5597	0.66415	T	0.361	0.72284	T	10	0.0035433173	0.00064	T	0.024798	0.47786	T	0.194	0.47447	.	.	0.481105547595	0.47743	0.11758784742564143	0.11686	0.0929780445651	0.10498	0.216410592198	0.01113	T	0.259217	0.63046	T	-0.418746	0.01742	T	-0.373047	0.36533	T	0.00572035828354206	0.00062	T	0.481052	0.14533	T	0.031725273	0.03065	0.036532987	0.03119	0.03698518	0.04656	0.040762812	0.04479	-3.837	0.21358	T	.	.	0.084	0.09723	B	.;.;.	.;.;.	0.840369	0.12120	8.672	0.97295300033545329	0.33252	0.23503	0.22097	N	AEFBI	0.199206	0.32602	N	-0.766509529704649	0.14189	0.7048004	-0.814531610791616	0.14144	0.7375102	0.999657293367375	0.41424	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.59522	0.37078	0	.	.	5.78	0.679	0.17141	2.100000	0.41402	2.623000	0.33646	0.756000	0.94297	0.004000	0.16614	0.004000	0.18990	0.002000	0.04165	0.7419:0.0:0.2581:0.0	9.877	0.40380	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	0	0	0	1	0	1	0	0.005539	0.000000	0.009511	0.014620	0.000000	0.000000	0.003049	0.000000	0.05	1517.43	33	chr5	83537607	.	A	G	1517.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.97;DP=746;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.219;SOR=0.779	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1529,0,1753	9	0	1	0
chr5	96780494	96780494	C	G	exonic	ERAP1	.	nonsynonymous SNV	ERAP1:NM_001040458:exon18:c.G2599C:p.G867R,ERAP1:NM_001198541:exon18:c.G2599C:p.G867R,ERAP1:NM_001349244:exon18:c.G2599C:p.G867R,ERAP1:NM_016442:exon18:c.G2599C:p.G867R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0714642738333	.	.	8.27e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs746217625	6.848e-07	6.841e-07	1.363e-06	0	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	6.583e-06	6.571e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.986	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.295	0.65404	M	3.5	0.05014	T	-6.73	0.92605	D	0.902	0.90251	-1.1812	0.00352	T	0.074	0.29834	T	10	0.8168645	0.80918	D	0.071464	0.71275	D	0.369	0.68844	0.593	0.72247	0.350964488264	0.34705	0.6648121535879067	0.66418	0.451824875	0.44921	0.570059001446	0.48687	T	0.170079	0.51770	T	0.09634	0.63893	D	0.0697375	0.74892	D	0.892723565373001	0.54385	D	0.957004	0.83719	D	0.91695654	0.92953	0.9069426	0.95471	0.91695654	0.92954	0.9069426	0.95471	-10.316	0.75782	D	.	.	0.845	0.79948	P	.;.	.;.	4.841681	0.79050	27.0	0.99913406678728911	0.98238	0.99191	0.92574	D	AEFBI	0.746529	0.68887	D	0.549014015453762	0.70021	5.440907	0.583731913506914	0.73772	6.025754	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.677038	0.66255	0	.	.	6.09	6.09	0.99101	5.577000	0.67141	7.678000	0.65147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.743000	0.35541	0.0:1.0:0.0:0.0	20.29	0.98544	896	0.25515	.;ERAP1-like C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1544.43	75	chr5	96780494	.	C	G	1544.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.655;DP=575;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=1.02;SOR=0.722	GT:AD:DP:GQ:PL	0/1:117,81:198:99:1556,0,2736	9	0	1	0
chr5	111119021	111119021	A	G	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon17:c.A1805G:p.D602G	Glaucoma 1, open angle, G	1	1506	14	1	0	16	0.00528402	.	.	.	16619	not_specified|Glaucoma_1,_open_angle,_G|not_provided	MedGen:CN169374|MedGen:C1835933,OMIM:609887|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.926	0.145943051313	0.0055	0.00139776	0.0042	0.0009	0.0037	0	0.0015	0.0065	0.0055	0.0007	0.0043919	679	154602	rs34595252	0.0066	0.0067	0.0067	0.0066	0.0078	0.0065	0.0065	0.0077	0.0076	0.0013	0.0041	0.0072	5.044e-05	0.0016	0.0064	0.0078	0.0064	0.0007	0.0046	0.0046	0.0049	0.0042	0.0071	0.0043	0.0042	0.0063	0.0061	0.0015	0.0022	0.0071	0.0087	0	0.0007	0.0102	0.0068	0.0085	0.0015	.	.	.	0.014	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	A	3.97	0.96570	H	-1.41	0.80560	T	-6.41	0.91226	D	0.837	0.83269	0.634	0.92336	D	0.702	0.89735	D	9	0.051918864	0.05146	T	0.145943	0.82810	D	0.926	0.98192	.	.	0.951965153022	0.95145	0.7251869714005635	0.72462	0.249442458714	0.27520	0.573815584183	0.49216	T	0.528265	0.83628	D	0.126704	0.67039	D	0.41379	0.92548	D	0.162536933819761	0.18057	T	0.938606	0.76932	D	0.6678618	0.76319	0.8412156	0.90918	0.92143774	0.93389	0.85915357	0.92121	-11.76	0.83662	D	0.7100612210578926	0.79015	0.935	0.85414	P	.;.;.	.;.;.	5.114656	0.85525	28.6	0.99868019287640497	0.94637	0.98820	0.87283	D	AEFBI	0.876605	0.80071	D	0.969284952116705	0.94719	12.98308	0.907067153494353	0.95874	14.05755	0.999999999993032	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	8.035000	0.89178	11.176000	0.88137	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	16.635	0.84906	899	0.25060	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing 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	0.006552	0.015152	0.008152	0.017544	0.000000	0.000000	0.000000	0.000000	0.05	869.43	38	chr5	111119021	.	A	G	869.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.38;DP=430;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-1.588;SOR=0.724	GT:AD:DP:GQ:PL	0/1:61,35:96:99:881,0,1511	9	0	1	0
chr5	129658638	129658638	T	G	exonic	ADAMTS19	.	nonsynonymous SNV	ADAMTS19:NM_133638:exon15:c.T2326G:p.L776V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0114594654017	.	.	8.243e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs750485510	2.738e-06	2.736e-06	2.724e-06	2.752e-06	3.487e-05	6.4e-07	4.3e-07	9.26e-06	4.57e-06	0	0	0	0	0	0	0	1.657e-05	3.487e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.20480	B	0.021	0.19346	B	0.005030	0.33162	N	0.114263	0.952432	0.37784	D	1.275	0.32135	L	.	.	.	.	.	.	.	.	-1.0108	0.26666	T	0.151	0.47944	T	9	0.07774603	0.12307	T	0.011459	0.29107	T	0.009	0.00846	0.354	0.35408	0.285775778912	0.28195	0.40686378103085724	0.40602	0.173662969819	0.19551	0.502615272999	0.39192	T	0.07401	0.34835	T	-0.253176	0.13712	T	-0.500816	0.22264	T	0.135044544935226	0.15840	T	0.827017	0.49049	T	0.061322257	0.12684	0.05665378	0.10162	0.061322257	0.12684	0.05665378	0.10161	-4.798	0.34568	T	.	.	0.145	0.32005	B	.;.	.;.	1.877479	0.23851	16.17	0.99281580056418162	0.57938	0.15507	0.18946	N	AEFI	0.139552	0.26119	N	-0.625478748858729	0.18181	0.9418779	-0.57200703696552	0.20224	1.088634	1.11859935489635E-4	0.05269	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.89	1.29	0.20717	-0.267000	0.08648	-0.569000	0.08436	0.665000	0.62972	0.005000	0.17040	0.000000	0.08366	0.996000	0.76049	0.0:0.1703:0.1378:0.6918	5.872	0.18055	623	0.65786	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1119.43	34	chr5	129658638	.	T	G	1119.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.692;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.987;SOR=0.726	GT:AD:DP:GQ:PL	0/1:52,53:105:99:1131,0,1241	9	0	1	0
chr5	132603365	132603365	A	G	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon14:c.A2273G:p.N758S	Nijmegen breakage syndrome-like disorder	.	.	.	.	.	.	.	.	.	.	233358	Hereditary_cancer-predisposing_syndrome|Hereditary_breast_ovarian_cancer_syndrome|Nijmegen_breakage_syndrome-like_disorder	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.00559309430227	7.7e-05	.	8.362e-06	0	0	0	0	1.526e-05	0	0	6.5e-06	1	154602	rs147568421	2.258e-05	2.257e-05	2.315e-05	2.201e-05	0.0001	1.611e-05	1.417e-05	5.851e-05	3.759e-05	0.0001	0	0	0	0	0	2.339e-05	1.656e-05	1.16e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.893	0.03108	T	0.226	0.30455	B	0.103	0.30945	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.05	0.56469	M	.	.	.	.	.	.	0.318	0.35832	-0.9090	0.46977	T	0.014	0.05369	T	10	0.2889511	0.46477	T	0.005593	0.14439	T	0.096	0.27654	.	.	0.602586112267	0.59941	0.1825352408345985	0.18172	.	.	0.529138982296	0.42913	T	0.063365	0.32158	T	-0.114719	0.33992	T	-0.387076	0.34894	T	0.881693840026855	0.53177	D	0.880112	0.59716	D	0.22418419	0.45055	0.14548804	0.34502	0.22418419	0.45055	0.14548804	0.34501	-3.293	0.13647	T	0.4376296796166142	0.52370	0.111	0.21541	B	.;.;.;.	.;.;.;.	2.751014	0.36062	20.1	0.98905074475003663	0.48254	0.98573	0.84247	D	AEFBI	0.877087	0.80150	D	0.0167796046794189	0.42618	2.571301	0.193928604916837	0.49512	3.153639	0.999999999587523	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.16	5.16	0.70563	6.893000	0.75468	8.040000	0.76310	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.301	0.73652	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	921.43	34	chr5	132603365	.	A	G	921.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.399;DP=388;ExcessHet=0;FS=3.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.605;SOR=1.091	GT:AD:DP:GQ:PL	0/1:36,39:75:99:933,0,872	9	0	1	0
chr5	132734415	132734415	G	A	exonic	KIF3A	.	nonsynonymous SNV	KIF3A:NM_001300791:exon2:c.C70T:p.L24F,KIF3A:NM_001300792:exon2:c.C70T:p.L24F,KIF3A:NM_007054:exon2:c.C70T:p.L24F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0164701016698	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	3.84e-05	1	26028	rs771430307	2.052e-06	2.052e-06	1.361e-06	2.75e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.38633	T	0.094	0.43913	T	0.148	0.47827	B	0.186	0.46994	B	0.000064	0.52346	D	0.170356	0.999999	0.58761	D	0.79	0.19579	N	-0.83	0.74159	T	-2.34	0.58085	N	0.157	0.22870	-0.6472	0.62835	T	0.279	0.65037	T	10	0.34197432	0.51237	T	0.01647	0.37742	T	0.154	0.40340	0.628	0.76366	0.408018266311	0.40413	0.4395177681185294	0.43868	0.90978147764	0.71011	0.55196160078	0.46135	T	0.584997	0.87362	D	-0.137593	0.30273	T	-0.338565	0.40506	T	0.614564955234528	0.36985	D	0.852415	0.55722	D	0.13962452	0.32245	0.13969004	0.33322	0.13962452	0.32245	0.13969004	0.33322	-4.644	0.32720	T	.	.	0.173	0.41663	B	.;.;.;.;.	.;.;.;.;.	4.175559	0.62817	24.5	0.99611395383907353	0.74813	0.87970	0.47699	D	AEFBI	0.165869	0.29240	N	0.196630845422751	0.51037	3.288282	0.321459646164172	0.56804	3.844225	0.992919484242646	0.33015	0.732398	0.92422	0	0.581341	0.33841	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.88	4.91	0.63897	1.823000	0.38700	9.750000	0.81468	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.1491:0.0:0.8509:0.0	11.254	0.48275	892	0.26670	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1246.43	34	chr5	132734415	.	G	A	1246.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.04;DP=433;ExcessHet=0;FS=1.491;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.044;SOR=0.846	GT:AD:DP:GQ:PL	0/1:72,51:123:99:1258,0,1546	9	0	1	0
chr5	132873725	132873725	A	G	exonic	LEAP2	.	nonsynonymous SNV	LEAP2:NM_052971:exon1:c.A31G:p.M11V	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	7.7e-05	0.00678914	0.0022	0	0	0.0305	0	4.495e-05	0	0.0003	0.0020957	324	154602	rs117541219	0.0007	0.0007	0.0008	0.0006	0.0235	0.0007	0.0007	0.0223	0.0218	2.987e-05	4.472e-05	0	0.0235	0	0.0002	1.979e-05	0.0008	0.0003	0.0010	0.0010	0.0008	0.0011	0.0278	0.0009	0.0008	0.0241	0.0227	2.407e-05	0	0.0002	0	0.0278	0	0	1.47e-05	0	0.0004	0.419	0.09866	T	0.461	0.12562	T	0.0	0.02946	B	0.002	0.06944	B	0.003884	0.34365	N	0.346304	1	0.08975	N	.	.	.	.	.	.	-0.78	0.21644	N	0.182	0.19728	-1.0768	0.07983	T	0.014	0.05608	T	8	0.00301072	0.00049	T	.	.	.	0.044	0.11924	.	.	0.0138822411134	0.00435	0.30081115799719915	0.29994	0.0588156460975	0.06527	0.391605824232	0.23896	T	0.020997	0.16432	T	-0.543224	0.00320	T	-0.530768	0.19210	T	0.0103267972775616	0.00141	T	0.570643	0.20320	T	0.04609151	0.07657	0.041565564	0.04752	0.04609151	0.07657	0.041565564	0.04751	-1.821	0.02573	T	.	.	0.070	0.03336	B	.	.	0.017580	0.04404	1.146	0.67490952140397564	0.08370	0.20063	0.20900	N	AEFDGBHCI	0.426125	0.49061	N	-0.937906721660598	0.09966	0.4740554	-0.973500211786367	0.10383	0.5225706	0.999999999601567	0.74766	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.741806	0.99463	0	.	.	6.17	-2.87	0.05359	-0.217000	0.09258	0.203000	0.15874	0.756000	0.94297	0.001000	0.13787	0.000000	0.08366	0.177000	0.21203	0.2339:0.4335:0.0694:0.2632	3.541	0.07368	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1689.43	33	chr5	132873725	.	A	G	1689.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.558;DP=474;ExcessHet=0;FS=1.929;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.49;SOR=0.636	GT:AD:DP:GQ:PL	0/1:94,74:168:99:1701,0,2442	9	0	1	0
chr5	141096081	141096081	C	A	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.C1291A:p.P431T	.	407	1061	53	1	0	55	0.0252641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	.	0.0038	0.00958466	0.0089	0.0003	0.0015	0.0003	0.0038	0.0050	0.0110	0.0421	0.0078977	1221	154602	rs116177548	0.0061	0.0061	0.0049	0.0073	0.0403	0.0060	0.0059	0.0392	0.0388	0.0010	0.0013	0.0061	0.0003	0.0030	0.0135	0.0040	0.0072	0.0403	0.0042	0.0043	0.0038	0.0047	0.0396	0.0040	0.0039	0.0350	0.0332	0.0009	0	0.0028	0.0063	0.0008	0.0039	0.0170	0.0043	0.0038	0.0396	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.998288	0.44722	D	4.53	0.99067	H	0.47	0.56114	T	-7.69	0.95603	D	0.109	0.09490	0.210	0.86076	D	0.416	0.76272	T	9	0.0071762204	0.00163	T	.	.	.	0.365	0.68495	.	.	0.612105117874	0.60898	0.40462831523539394	0.40378	.	.	0.502436220646	0.39167	T	0.168583	0.51564	T	-0.205426	0.20028	T	-0.0371565	0.67893	D	0.0867931227568148	0.10833	T	0.89531	0.63576	D	0.6614294	0.75975	0.67982537	0.81189	0.6614294	0.75976	0.67982537	0.81190	-12.058	0.85132	D	.	.	0.311	0.53838	B	.	.	3.332482	0.45886	22.2	0.99748695843572432	0.84077	0.94566	0.61582	D	AEFBI	0.362501	0.45174	N	0.709339028336467	0.80246	7.251683	0.535182317702874	0.70373	5.49572	0.999973434895134	0.50053	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	5.11	5.11	0.69188	2.517000	0.45189	.	.	0.599000	0.40250	0.824000	0.30046	0.964000	0.29435	0.076000	0.17014	0.1465:0.8535:0.0:0.0	14.595	0.67990	461	0.78683	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.005051	0.010870	0.008772	0.000000	0.017241	0.024390	0.015152	0.05	4688.43	34	chr5	141096081	.	C	A	4688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.51;DP=699;ExcessHet=0;FS=2.83;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.48;MQRankSum=2.05;QD=13.32;ReadPosRankSum=-0.148;SOR=0.549	GT:AD:DP:GQ:PL	0/1:177,175:352:99:4700,0,4472	9	0	1	0
chr5	141122851	141122851	G	C	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.G853C:p.D285H	.	416	1054	51	1	0	53	0.0245257	.	.	.	698863	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0037	0.00958466	0.0091	0.0003	0.0015	0.0003	0.0038	0.0050	0.0111	0.0425	0.0078524	1214	154602	rs149340599	0.0061	0.0061	0.0049	0.0073	0.0409	0.0060	0.0060	0.0398	0.0393	0.0010	0.0013	0.0061	0.0003	0.0030	0.0139	0.0040	0.0072	0.0409	0.0042	0.0042	0.0038	0.0047	0.0402	0.0040	0.0039	0.0356	0.0338	0.0009	0	0.0028	0.0063	0.0008	0.0038	0.0170	0.0043	0.0038	0.0402	0.002	0.72154	D	0.052	0.47581	T	0.592	0.39119	P	0.824	0.59271	P	.	.	.	.	0.995638	0.42782	D	0.975	0.24501	L	-0.19	0.65931	T	-2.03	0.46673	N	0.132	0.12770	-0.4390	0.70763	T	0.277	0.64896	T	9	0.0023590326	0.00035	T	.	.	.	0.163	0.42028	.	.	0.624762870363	0.62171	0.18137512757830604	0.18056	.	.	0.355227172375	0.18689	T	0.027262	0.20004	T	-0.419304	0.01728	T	-0.344377	0.39848	T	0.0769435884720714	0.09592	T	0.70183	0.31167	T	0.4089323	0.61346	0.5137543	0.71903	0.4089323	0.61346	0.5137543	0.71904	-6.845	0.52893	T	.	.	0.115	0.23113	B	.	.	3.029406	0.40572	21.2	0.99417549142401851	0.63597	0.69254	0.34115	D	AEFBI	0.313196	0.41842	N	0.117199949162578	0.47266	2.954661	0.076161419448437	0.43353	2.63879	0.461169955851713	0.20625	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.41	4.41	0.52588	0.765000	0.26211	.	.	0.590000	0.31872	0.000000	0.06391	0.931000	0.28545	0.993000	0.69303	0.0:0.0:1.0:0.0	17.554	0.87781	520	0.74355	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013092	0.005051	0.010870	0.008772	0.000000	0.017241	0.027439	0.015152	0.05	1493.43	85	chr5	141122851	.	G	C	1493.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.359;DP=704;ExcessHet=0;FS=3.883;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.245;SOR=0.914	GT:AD:DP:GQ:PL	0/1:40,53:93:99:1505,0,1087	9	0	1	0
chr5	141173765	141173765	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G930C:p.E310D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.474	0.202633084596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999782	0.20372	N	3.055	0.86842	M	-0.65	0.72237	T	-2.94	0.61435	D	0.544	0.57092	-0.3457	0.73678	T	0.537	0.82887	D	9	0.9353602	0.92867	D	0.202633	0.86831	D	0.474	0.76685	0.817	0.93127	0.794638162076	0.79272	0.2056605258777981	0.20483	0.542382466446	0.51350	0.462000310421	0.33585	T	0.126879	0.45355	T	0.0487642	0.58182	T	-0.16773	0.57650	T	0.970979869365692	0.69145	D	0.909209	0.67884	D	0.39501306	0.60385	0.42082992	0.66034	0.39501306	0.60386	0.42082992	0.66034	-11.333	0.81453	D	.	.	0.814	0.77941	P	.	.	2.079273	0.26445	17.12	0.996342216413029	0.76264	0.23594	0.22126	N	AEFDBI	0.227155	0.35101	N	0.0545368441754623	0.44352	2.710791	-0.191872681521743	0.31834	1.805331	0.0134669852051686	0.12468	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	-1.57	0.08055	0.632000	0.24273	.	.	0.676000	0.76740	0.107000	0.22934	0.000000	0.08366	0.938000	0.47775	0.5702:0.0:0.4298:0.0	10.905	0.46286	652	0.62785	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	.	.	.	.	.	.	.	.	0.05	65.43	35	chr5	141173765	.	G	C	65.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-7.087;DP=825;ExcessHet=0;FS=145.487;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.08;SOR=7.327	GT:AD:DP:GQ:PL	0/1:149,38:187:77:77,0,4731	9	0	1	0
chr5	141201128	141201128	A	T	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.A1354T:p.T452S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0072	0.00678914	0.0018	0.0209	0.0003	0	0	2.997e-05	0	0	0.0017594	272	154602	rs61739365	0.0006	0.0006	0.0007	0.0006	0.0220	0.0006	0.0006	0.0207	0.0201	0.0220	0.0009	0	0	0	0.0009	4.047e-05	0.0015	5.797e-05	0.0064	0.0064	0.0068	0.0060	0.0223	0.0061	0.0060	0.0211	0.0206	0.0223	0	0.0021	0	0	0	0.0034	7.354e-05	0.0076	0	0.195	0.20759	T	0.773	0.04431	T	0.066	0.23586	B	0.036	0.22909	B	.	.	.	.	1	0.08975	N	0.315	0.10303	N	4.16	0.02791	T	-3.08	0.63323	D	0.027	0.02964	-0.9021	0.47771	T	0.002	0.00707	T	9	0.004606068	0.00096	T	.	.	.	0.063	0.18251	0.237	0.16760	0.223847106136	0.22009	0.04190349517943562	0.04135	0.210590298117	0.23551	0.372912406921	0.21249	T	0.102792	0.41085	T	-0.738877	0.00021	T	-0.817202	0.01510	T	0.00550366659484307	0.00060	T	0.677732	0.28664	T	0.06807655	0.14799	0.07999842	0.18060	0.06807655	0.14799	0.07999842	0.18059	-6.102	0.59871	T	.	.	0.073	0.05060	B	.;.	.;.	0.518932	0.08879	5.657	0.58015835501229496	0.05897	0.05052	0.10841	N	AEFBI	0.079661	0.16093	N	-1.2668893611406	0.04081	0.183512	-1.31194724662658	0.04275	0.2012913	0.001480686369557	0.08567	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.52	-0.457	0.11578	-1.554000	0.02276	.	.	0.377000	0.20376	0.000000	0.06391	0.000000	0.08366	0.075000	0.16954	0.2751:0.1908:0.1592:0.3748	0.189	0.00123	666	0.61362	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	0.001056	0.000000	0.000000	0.008130	0.000000	0.000000	0.000000	0.000000	0.05	4697.43	36	chr5	141201128	.	A	T	4697.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.87;DP=934;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.57;MQRankSum=3.77;QD=13.38;ReadPosRankSum=0.357;SOR=0.747	GT:AD:DP:GQ:PL	0/1:171,180:351:99:4709,0,4225	9	0	1	0
chr5	141247884	141247884	C	T	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.C2306T:p.P769L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0420752177717	7.7e-05	0.000399361	0.0003	0	0	0	0	6.003e-05	0.0011	0.0019	0.0002587	40	154602	rs144911247	0.0002	0.0002	0.0001	0.0002	0.0020	0.0002	0.0002	0.0018	0.0017	0	0	0	2.519e-05	0	0.0007	6.025e-05	0.0002	0.0020	8.535e-05	8.53e-05	3.854e-05	0.0001	0.0019	4.953e-05	3.96e-05	0.0010	0.0007	2.406e-05	0	0	0	0	0	0	4.411e-05	0	0.0019	0.001	0.78490	D	0.001	0.83351	D	0.991	0.64070	D	0.887	0.62952	P	.	.	.	.	0.999979	0.53665	D	4.07	0.97156	H	2.22	0.18248	T	-8.41	0.97155	D	0.231	0.25989	-0.7741	0.56631	T	0.134	0.44739	T	9	0.024634957	0.00684	T	0.042075	0.60271	D	0.222	0.51872	.	.	0.717185638734	0.71469	0.3404634470887799	0.33959	1.26618572042	0.82168	0.444132089615	0.31142	T	0.008689	0.07960	T	-0.349829	0.04737	T	-0.30536	0.44155	T	0.501815607894214	0.32696	D	0.943906	0.78806	D	0.4438632	0.63651	0.51738226	0.72116	0.4438632	0.63651	0.51738226	0.72116	-9.445	0.70516	D	.	.	0.184	0.39932	B	.	.	2.818126	0.37116	20.4	0.99807281645808898	0.89174	0.66084	0.32956	D	AEFDI	0.211271	0.33708	N	0.413185867644383	0.62146	4.425893	0.273271237912443	0.53984	3.564901	0.996426748179375	0.34736	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.39	4.39	0.52211	1.417000	0.34378	.	.	0.596000	0.33519	0.103000	0.22855	0.999000	0.35428	0.134000	0.19723	0.0:1.0:0.0:0.0	16.975	0.86183	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	.	.	.	.	.	.	.	.	0.05	2733.43	38	chr5	141247884	.	C	T	2733.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.44;DP=583;ExcessHet=0;FS=3.18;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.911;SOR=0.927	GT:AD:DP:GQ:PL	0/1:105,106:211:99:2745,0,2503	9	0	1	0
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	3708.82	169	chr5	141303079	.	C	T	3708.82	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-4.49;DP=1503;ExcessHet=2.8389;FS=221.973;InbreedingCoeff=-0.4286;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=2.36;SOR=10.911	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,29:169:99:.:.:541,0,3757:.	7	0	1	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	5820.05	170	chr5	141303081	.	A	G	5820.05	.	AC=8;AF=0.444;AN=18;BaseQRankSum=-3.609;DP=2013;ExcessHet=10.3881;FS=210.687;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.79;ReadPosRankSum=1.97;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,57:182:99:.:.:759,0,3745:.	1	0	8	1
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1816.95	39	chr5	141400463	.	A	G	1816.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-6.363;DP=2409;ExcessHet=7.0302;FS=249.381;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=59.97;MQRankSum=0;QD=0.97;ReadPosRankSum=0.964;SOR=12.843	GT:AD:DP:GQ:PL	0/1:209,74:283:99:101,0,4306	3	0	7	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	.	.	.	.	.	.	.	.	0.2143	127.13	71	chr5	146286009	.	G	C	127.13	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.543;DP=724;ExcessHet=0.7463;FS=104.377;InbreedingCoeff=-0.2483;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0;SOR=9.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,9:68:5:.:.:5,0,2131:.	4	0	3	3
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	43716.6	395	chr5	157052557	.	C	*	43716.6	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.148;DP=5393;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=1.9;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,444:444:99:.:.:19819,1346,0:.	1	4	5	0
chr5	157468794	157468794	C	T	exonic	NIPAL4	.	nonsynonymous SNV	NIPAL4:NM_001172292:exon3:c.C536T:p.A179V,NIPAL4:NM_001099287:exon4:c.C407T:p.A136V	Ichthyosis, congenital, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.905	0.292983563554	8.1e-05	.	1.677e-05	0.0001	0	0	0	1.508e-05	0	0	1.29e-05	2	154602	rs372087764	1.307e-05	1.368e-05	1.506e-05	1.106e-05	0.0003	8.36e-06	6.74e-06	6.105e-05	3.186e-05	6.021e-05	2.275e-05	0	0.0001	0	0.0003	7.227e-06	1.664e-05	0	6.57e-06	6.566e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.047	0.49120	D	0.141	0.27581	B	0.056	0.26147	B	0.000000	0.84330	D	0.049143	1	0.81001	D	3.77	0.95173	H	-3.12	0.92774	D	-3.88	0.72710	D	0.937	0.94786	0.593	0.91803	D	0.788	0.92822	D	10	0.9581042	0.95190	D	0.292984	0.90627	D	0.905	0.97398	.	.	0.62465077226	0.62159	0.7603543513012374	0.75983	0.357096101051	0.37439	0.618392586708	0.55502	T	0.690694	0.91004	D	0.252854	0.78868	D	0.362	0.90781	D	0.969191789627075	0.68505	D	0.928457	0.73770	D	0.63906485	0.74781	0.69553024	0.82074	0.63906485	0.74782	0.69553024	0.82075	-9.3	0.69607	D	.	.	0.454	0.62381	A	.;.	.;.	4.307735	0.65821	24.9	0.99583709596031078	0.73159	0.97401	0.74515	D	AEFDBI	0.870726	0.79182	D	0.179943307109354	0.50236	3.215642	0.221167687570057	0.51023	3.288572	0.999999999576571	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.75	3.88	0.43959	7.884000	0.85773	4.067000	0.41634	0.568000	0.28809	1.000000	0.71638	0.999000	0.35428	0.615000	0.31768	0.0:0.9214:0.0:0.0785	13.102	0.58641	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	.	.	.	.	.	.	.	.	0.05	2435.43	36	chr5	157468794	.	C	T	2435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.469;DP=515;ExcessHet=0;FS=5.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=1.11;SOR=0.897	GT:AD:DP:GQ:PL	0/1:101,105:206:99:2447,0,2397	9	0	1	0
chr5	160612865	160612865	C	T	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon17:c.G2714A:p.R905Q,ATP10B:NM_001366655:exon17:c.G2714A:p.R905Q,ATP10B:NM_001366657:exon17:c.G2678A:p.R893Q,ATP10B:NM_025153:exon18:c.G2714A:p.R905Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	2759623	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.212	0.0189579454814	.	.	4.171e-05	0	8.732e-05	0	0	6.032e-05	0	0	3.23e-05	5	154602	rs771984784	2.258e-05	2.257e-05	1.225e-05	3.3e-05	0.0002	1.61e-05	1.416e-05	8.886e-05	7.054e-05	0	0	0	2.52e-05	0	0.0002	1.529e-05	1.656e-05	0.0002	1.313e-05	1.312e-05	0	2.686e-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	0.213	0.19430	T	0.206	0.27056	T	0.164	0.36006	B	0.056	0.26147	B	0.000357	0.45440	N	0.151764	0.999786	0.49076	D	1.535	0.38868	L	-1.65	0.82625	D	-2.09	0.55181	N	0.251	0.28381	-0.6942	0.60712	T	0.303	0.67427	T	9	0.14331251	0.27210	T	0.018958	0.41188	T	0.212	0.50341	0.472	0.54699	0.828667453019	0.82704	0.6219205040595219	0.62125	0.16552989116	0.18672	0.316796064377	0.12935	T	0.043024	0.26370	T	-0.247757	0.14376	T	-0.412135	0.31978	T	0.282776296138763	0.24288	T	0.90471	0.67676	D	0.114620864	0.27057	0.103048585	0.24716	0.114620864	0.27057	0.103048585	0.24715	-6.235	0.48205	T	.	.	0.076	0.05979	B	.;.;.	.;.;.	2.182916	0.27823	17.59	0.99700116248017689	0.80591	0.39290	0.26180	N	AEFI	0.286741	0.39905	N	-0.437592477838232	0.24163	1.302754	-0.371776261830854	0.25842	1.423664	0.0045826098407805	0.10627	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.18	2.41	0.28644	1.018000	0.29604	-0.099000	0.11964	0.599000	0.40250	0.013000	0.18845	0.000000	0.08366	0.976000	0.56436	0.0:0.7757:0.0:0.2243	9.872	0.40346	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	.	.	.	.	.	.	.	.	0.05	761.43	35	chr5	160612865	.	C	T	761.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=386;ExcessHet=0;FS=2.03;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=2.14;SOR=0.811	GT:AD:DP:GQ:PL	0/1:36,31:67:99:773,0,830	9	0	1	0
chr5	180948376	180948376	G	T	splicing	BTNL8	NM_001159707:exon4:c.460+1G>T;NM_024850:exon5:c.938+1G>T;NM_001159709:exon5:c.433+1G>T;NM_001040462:exon5:c.808+1G>T;NM_001159710:exon4:c.256+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99995	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.497772	0.00588	T	-0.952792	0.00253	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.110430	0.41958	21.4	0.74540741763671325	0.10733	0.00618	0.02733	N	AEFDGI	.	.	.	-0.0213162468113312	0.40893	2.436309	-0.486173433041473	0.22533	1.224393	3.71888966381913E-4	0.06745	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.057018	0.00518	0	0.107189	0.23204	1.48	-0.574	0.11150	0.718000	0.25537	0.809000	0.21733	0.502000	0.22824	0.554000	0.27377	0.084000	0.22431	0.006000	0.07323	0.2082:0.0:0.4859:0.3059	2.107	0.03469	.	.	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2862.17	33	chr5	180948376	.	G	T	2862.17	.	AC=2;AF=0.1;AN=20;DP=452;ExcessHet=0;FS=1.236;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=58.27;QD=32.9;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,87:92:99:1|1:180948375_GGTAA_G:2887,261,0:180948375	9	1	0	0
chr6	6625004	6625004	T	G	exonic	LY86	.	nonsynonymous SNV	LY86:NM_004271:exon2:c.T215G:p.I72S	.	537	980	5	0	0	5	0.00254453	.	.	.	3449329	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.213	0.0220517237883	0.0005	0.000199681	0.0011	0.0003	0.0007	0	0.0005	0.0016	0.0078	0.0009	0.0006339	98	154602	rs142377958	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0	7.538e-05	4.055e-05	0	0.0009	0	0.0002	0.0005	0.0010	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	4.81e-05	0	0.0002	0	0.0002	0.0011	0	0.0003	0	0.0004	0.013	0.53900	D	0.004	0.74150	D	0.956	0.54666	P	0.947	0.68407	D	0.690052	0.10184	N	0.856006	0.999963	0.18878	N	2.015	0.55033	M	0.96	0.42888	T	-2.43	0.53258	N	0.604	0.62188	-1.0062	0.28095	T	0.124	0.42694	T	10	0.15228179	0.28767	T	0.022052	0.44897	T	0.213	0.50496	.	.	0.597897742083	0.59469	0.7460244882594081	0.74548	0.055780197225	0.06166	0.416569828987	0.27366	T	0.549036	0.84697	D	-0.349318	0.04771	T	-0.324989	0.42026	T	0.0519274303869505	0.05834	T	0.745725	0.36599	T	0.52061373	0.68294	0.2633731	0.52142	0.52061373	0.68295	0.2633731	0.52141	-4.293	0.28079	T	.	.	0.807	0.77631	P	.;.	.;.	4.520772	0.70884	25.6	0.99357756041688616	0.60862	0.29554	0.23852	N	AEBIJ	0.208364	0.33445	N	0.226450668191904	0.52485	3.422264	0.135614723311456	0.46385	2.885278	0.754531296989716	0.23412	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.26	4.08	0.46880	1.558000	0.35917	4.991000	0.46528	0.665000	0.62972	0.321000	0.25511	0.999000	0.35428	0.996000	0.76049	0.0:0.0872:0.0:0.9128	9.043	0.35489	968	0.07033	MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	947.43	37	chr6	6625004	.	T	G	947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.106;DP=402;ExcessHet=0;FS=1.834;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.222;SOR=0.969	GT:AD:DP:GQ:PL	0/1:41,40:81:99:959,0,967	9	0	1	0
chr6	7411419	7411419	G	C	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon14:c.G1045C:p.E349Q,RIOK1:NM_031480:exon14:c.G1357C:p.E453Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.032129703999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.283	0.21478	T	0.898	0.49442	P	0.352	0.42883	B	0.000001	0.62929	D	0.096591	1	0.81001	D	0.145	0.08828	N	3.34	0.06063	T	-0.87	0.23590	N	0.338	0.37923	-0.7535	0.57752	T	0.007	0.02478	T	10	0.21544152	0.38097	T	0.03213	0.54036	D	0.225	0.52323	0.335	0.32329	0.388812400583	0.38497	0.3162422768940247	0.31537	0.230302317014	0.25578	0.527692854404	0.42709	T	0.013255	0.11500	T	-0.0972108	0.36887	T	-0.377413	0.36026	T	0.585103784492092	0.35815	D	0.855114	0.54241	D	0.1738056	0.38149	0.18711801	0.41924	0.1738056	0.38149	0.18711801	0.41923	-4.263	0.27655	T	.	.	0.130	0.27939	B	.	.	4.028609	0.59550	24.1	0.99713077346358581	0.81493	0.99847	0.99816	D	AEFBI	0.866036	0.78533	D	0.345006990906183	0.58475	4.020116	0.477039224821321	0.66470	4.956473	0.999999422754696	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.892000	0.92141	9.689000	0.81268	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.632	0.91319	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	131.78	78	chr6	7411419	.	G	C	131.78	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.634;DP=940;ExcessHet=1.5895;FS=160.175;InbreedingCoeff=-0.3345;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.831;SOR=10.2	GT:AD:DP:GQ:PL	0/1:70,24:94:15:15,0,1216	4	0	4	2
chr6	13711049	13711049	G	C	exonic	RANBP9	.	nonsynonymous SNV	RANBP9:NM_005493:exon1:c.C457G:p.R153G	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.963756580745	0.0007	0.00139776	0.0039	0	0.0018	0.0003	0.0092	0.0061	0.0068	0.0016	0.0018434	285	154602	rs144473823	0.0029	0.0028	0.0029	0.0028	0.0031	0.0028	0.0028	0.0030	0.0030	0.0002	0.0011	0.0020	0	0.0053	0.0021	0.0031	0.0032	0.0016	0.0027	0.0027	0.0027	0.0026	0.0043	0.0024	0.0024	0.0038	0.0037	0.0003	0	0.0007	0.0017	0	0.0066	0.0103	0.0043	0.0033	0.0012	0.257	0.16738	T	0.483	0.11795	T	0.407	0.34981	B	0.061	0.26820	B	0.020357	0.27058	N	0.364442	0.996759	0.43396	D	0.755	0.19153	N	-1.27	0.79277	T	-2.38	0.52451	N	0.203	0.22486	-1.0753	0.08287	T	0.070	0.28642	T	10	0.0069773197	0.00159	T	0.963757	0.99768	D	0.301	0.62179	.	.	0.580656232309	0.57736	0.48089888664766833	0.48009	2.11051116609	0.94935	0.929391264915	0.98953	D	0.622183	0.88173	D	-0.312568	0.07524	T	-0.217754	0.52952	T	0.0432522325860782	0.04284	T	0.924008	0.72230	D	0.49778056	0.66965	0.17042208	0.39149	0.49778056	0.66965	0.17042208	0.39149	-6.356	0.49165	T	.	.	0.252	0.48715	B	.	.	4.124911	0.61682	24.4	0.92263829945058828	0.21646	0.68340	0.33765	D	ALL	0.503075	0.53521	D	-0.521342188093928	0.21391	1.134851	-0.442565501826453	0.23760	1.297443	0.999999999240301	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	3.54	1.7	0.23359	3.012000	0.49262	9.115000	0.78820	0.486000	0.22242	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.214:0.0:0.6034:0.1826	4.082	0.09405	785	0.46916	B30.2/SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008138	0.000000	0.004098	0.017647	0.050000	0.008621	0.012422	0.015152	0.05	1778.43	40	chr6	13711049	.	G	C	1778.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.075;DP=428;ExcessHet=0;FS=2.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.53;ReadPosRankSum=-0.523;SOR=0.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,47:96:99:0|1:13711047_A_G:1790,0,1905:13711047	9	0	1	0
chr6	16327663	16327663	-	TGATGCTGA	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.647_648insTCAGCATCA:p.Q215_Q216insHQH,ATXN1:NM_000332:exon8:c.647_648insTCAGCATCA:p.Q215_Q216insHQH	Spinocerebellar ataxia 1, Autosomal dominant	5	1457	32	0	28	60	0.0108622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.609e-05	0	0	0.0015	0	0	0	0.0002	6.5e-06	1	154602	rs766029394	0.0003	0.0004	0.0002	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0004	0.0004	0	0.0035	0	0.0029	3.916e-05	0.0004	0.0021	0.0008	0.0009	0.0006	0.0009	0.0099	0.0007	0.0006	0.0073	0.0064	0.0007	0	0.0010	0	0.0099	0	0.0214	0.0002	0.0016	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	965.39	40	chr6	16327663	.	C	CTGATGCTGA	965.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.508;DP=766;ExcessHet=0;FS=5.046;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=4.23;SOR=0.283	GT:AD:DP:GQ:PL	0/1:42,26:68:99:977,0,1734	9	0	1	0
chr6	16327669	16327669	C	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001128164:exon7:c.G642T:p.Q214H,ATXN1:NM_000332:exon8:c.G642T:p.Q214H	Spinocerebellar ataxia 1, Autosomal dominant	5	1466	29	0	22	51	0.00979399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	.	0.0002	0	0.0003	0.0020	0	5.926e-05	0	0.0003	6.5e-06	1	154602	rs200111316	0.0022	0.0024	0.0019	0.0025	0.0455	0.0021	0.0021	0.0436	0.0428	0.0013	0.0018	0.0007	0.0455	0.0014	0.0040	0.0005	0.0028	0.0077	0.0050	0.0057	0.0045	0.0055	0.0623	0.0047	0.0045	0.0555	0.0528	0.0041	0	0.0055	0.0012	0.0623	0.0012	0.0217	0.0020	0.0089	0.0154	0.581	0.05973	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	0.71	0.51228	T	-0.24	0.10833	N	0.223	0.25006	-1.0332	0.19427	T	0.013	0.05177	T	5	0.003165722	0.00053	T	.	.	.	0.019	0.03383	0.243	0.17677	0.571625278582	0.56828	0.36497057281416573	0.36411	0.386732587604	0.39963	0.513806939125	0.40755	T	0.333686	0.70351	T	-0.170647	0.25137	T	-0.482899	0.24138	T	0.0146633580417803	0.00304	T	0.239776	0.03423	T	0.13407189	0.31163	0.1573729	0.36800	0.14230141	0.32754	0.17445123	0.39841	-6.779	0.52403	T	.	.	0.171	0.37690	B	.;.	.;.	1.005127	0.13839	10.39	0.70744731390196258	0.09396	0.00133	0.00820	N	AEFBI	0.024126	0.01446	N	-1.67939122662585	0.00917	0.03972131	-1.85113512368033	0.00609	0.02705755	0.695613069416805	0.22637	0.372202	0.05800	0	0.379588	0.06130	0	0.578056	0.29568	0	0.491896	0.07777	0	.	.	.	.	.	0.000000	0.12910	-0.548000	0.08544	0.000000	0.17513	0.828000	0.30104	0.000000	0.08366	0.189000	0.21571	.	.	.	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	0.014359	0.010870	0.008287	0.023529	0.050000	0.000000	0.009615	0.023077	0.05	968.43	40	chr6	16327669	.	C	A	968.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.251;DP=805;ExcessHet=0;FS=2.036;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=4.78;SOR=0.434	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,29:72:99:0|1:16327669_C_A:980,0,1662:16327669	9	0	1	0
chr6	19838155	19838155	C	T	exonic	ID4	.	nonsynonymous SNV	ID4:NM_001546:exon1:c.C401T:p.A134V	.	422	1097	2	1	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.799026717674	.	.	0.0010	0	0.0018	0	0	9.053e-05	0	0.0029	0.0002264	35	154602	rs755277892	0.0001	0.0001	7.79e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	0	3.049e-05	4.283e-05	0	0	0.0017	1.032e-05	0.0001	0.0020	4.604e-05	4.594e-05	1.287e-05	8.072e-05	0.0014	2.111e-05	1.528e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.156	0.24090	T	0.239	0.24477	T	0.416	0.35222	B	0.078	0.28627	B	0.114996	0.19252	N	0.486248	0.685816	0.30237	N	1.245	0.31408	L	-1.15	0.77964	T	-1.19	0.30346	N	0.073	0.04668	-1.0585	0.12134	T	0.087	0.33634	T	9	0.025958866	0.00775	T	0.799027	0.98426	D	0.231	0.53208	0.065	0.00293	0.774559073603	0.77248	0.4953486265445007	0.49455	0.615504475443	0.56028	0.905481100082	0.97025	D	0.234726	0.60181	T	-0.416534	0.01800	T	-0.377575	0.36006	T	0.0279389254958791	0.01680	T	0.684632	0.29288	T	0.08812124	0.20546	0.11761489	0.28392	0.08812124	0.20546	0.11761489	0.28391	-5.395	0.40871	T	.	.	0.084	0.09723	B	.	.	2.449039	0.31530	18.77	0.98917925076401569	0.48509	0.13120	0.17674	N	AEFDBCIJ	0.205395	0.33175	N	-0.658182930012867	0.17222	0.8843883	-0.640591711649924	0.18455	0.985923	0.999964466147213	0.48965	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	2.58	1.54	0.22290	0.104000	0.15148	1.573000	0.27428	0.443000	0.21123	0.067000	0.21986	1.000000	0.68203	0.879000	0.42020	0.0:0.7924:0.2076:0.0	9.939	0.40739	865	0.32612	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2345.14	71	chr6	19838155	.	C	T	2345.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.92;DP=429;ExcessHet=0.2348;FS=0.713;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=0.602;SOR=0.573	GT:AD:DP:GQ:PL	0/1:28,46:74:99:1198,0,560	8	0	2	0
chr6	24134501	24134501	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon3:c.C174G:p.S58R	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.0208990237238	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488401997	2.053e-06	2.052e-06	1.362e-06	2.751e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.312e-05	0	6.574e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.033	0.72154	D	0.017	0.64786	D	0.959	0.55135	D	0.647	0.52336	P	0.000000	0.84330	D	0.036970	0.999997	0.58761	D	2.34	0.67151	M	2.13	0.19588	T	-2.14	0.75058	N	0.801	0.80180	-1.0990	0.04214	T	0.053	0.22501	T	10	0.41373974	0.56400	T	0.020899	0.43581	T	0.284	0.60219	0.431	0.48007	0.679700534886	0.67698	0.7168030279089568	0.71623	0.727662557189	0.62576	0.625942230225	0.56569	T	0.117547	0.43771	T	0.188743	0.72848	D	0.0333402	0.72495	D	0.965076506137848	0.67154	D	0.914909	0.69682	D	0.43778837	0.63259	0.43165228	0.66776	0.43778837	0.63260	0.43165228	0.66776	-5.201	0.38952	T	.	.	0.449	0.79045	A	.;.;.;.	.;.;.;.	4.456535	0.69317	25.4	0.99807105583257405	0.89174	0.96912	0.71619	D	AEFI	0.754613	0.69443	D	0.495614693097551	0.66832	5.001636	0.489746699868558	0.67309	5.066784	0.329337700334227	0.19469	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.74	3.93	0.44666	3.838000	0.55532	3.210000	0.36796	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8651:0.0:0.1349	12.918	0.57612	858	0.34001	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1384.43	39	chr6	24134501	.	C	G	1384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.807;DP=472;ExcessHet=0;FS=6.286;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.418;SOR=1.291	GT:AD:DP:GQ:PL	0/1:67,52:119:99:1396,0,1823	9	0	1	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	1640.75	71	chr6	24145554	.	C	G	1640.75	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.77;DP=720;ExcessHet=10.3881;FS=223.591;InbreedingCoeff=-0.6667;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=-0.196;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,10:66:38:.:.:38,0,860:.	7	0	3	0
chr6	25770982	25770982	A	G	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon6:c.A676G:p.I226V,SLC17A4:NM_001286121:exon7:c.A514G:p.I172V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00325108154751	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1377303426	6.842e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.025	0.47320	D	0.03	0.54159	D	0.001	0.07471	B	0.008	0.13708	B	0.526459	0.05232	N	1.283730	1	0.08975	N	0.685	0.16464	N	0.39	0.57419	T	-0.7	0.19933	N	0.173	0.18512	-1.0741	0.08535	T	0.022	0.09238	T	10	0.10363278	0.19062	T	0.003251	0.07177	T	0.131	0.35738	0.703	0.83962	0.211220785272	0.20719	0.20255652093873397	0.20172	0.064403949288	0.07180	0.257238537073	0.04567	T	0.065067	0.32594	T	-0.294487	0.09190	T	-0.660787	0.08214	T	0.0691507777275334	0.08532	T	0.215678	0.04576	T	0.10299597	0.24342	0.08127449	0.18457	0.10299597	0.24342	0.08127449	0.18457	-3.885	0.22077	T	.	.	0.073	0.04517	B	.;.	.;.	0.797823	0.11683	8.266	0.94008719930506524	0.24108	0.02786	0.07497	N	AEFBI	0.115808	0.22755	N	-1.33021435656782	0.03335	0.1487774	-1.40067729938232	0.03246	0.1510136	0.999504365187641	0.40062	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.69	-11.4	0.00070	-0.515000	0.06375	-2.264000	0.03979	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.970000	0.54328	0.1484:0.4544:0.2118:0.1854	3.228	0.06338	593	0.68665	.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1269.43	33	chr6	25770982	.	A	G	1269.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.36;DP=435;ExcessHet=0;FS=2.348;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.24;SOR=0.484	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1281,0,1517	9	0	1	0
chr6	31028378	31028407	GAGACCACCACAGCCTCTACTGAAGGCTCC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.2947_2976del:p.T996_T1005del,MUC22:NM_001318484:exon3:c.2956_2985del:p.T999_T1008del,MUC22:NM_001322469:exon3:c.2956_2985del:p.T999_G1777delinsSASTTGSETTTASTTSSETTMASIMGSETTMASTIGSETTKVSTASSKMTTVFTENSETTIASTTASETTTVSTAGSETIPASTAGSETTTTTSTEGSETTTASTEGSETTTASTESSETTTATTIGSETTTASTEGSETTTTSTEGSETTTASTEGSEITTVSTTGSETTTASTEGSETTTASTEGSELTTVSTTGSETITVSAEGSETTTVTTMGSETTTASTAGSETTTVSTAGSETTTASIEGSETTTVSSTGSETTTVSTTGTETTITSTEGSETTTVTTAGSETTAVYTTGSETTTTSTEGSETTTVSTTGSETTTASTADLETTTVSTSGSGTTTASTAGSETTTVYITGSKTTTASTEGSEATTVSTTSSETTTASTTGSEMTTVFTTVSETTTVSTIGSEATTSSAAGSEATTTSTEGSETTTASTAGSETTTASTAGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	421	1076	24	0	1	25	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0106	0.0217	0.0746	.	0	0	0.0197	0.0001153	3	26028	rs200838925	0.0052	0.0050	0.0041	0.0062	0.0383	0.0051	0.0050	0.0371	0.0367	0.0188	0.0020	0.0004	0.0362	0.0027	0.0141	0.0014	0.0075	0.0383	0.0091	0.0098	0.0082	0.0100	0.0543	0.0087	0.0085	0.0490	0.0470	0.0173	0.0044	0.0036	0	0.0543	0.0018	0.0141	0.0018	0.0086	0.0348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	23834.4	701	chr6	31028377	.	TGAGACCACCACAGCCTCTACTGAAGGCTCC	T	23834.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.988;DP=5966;ExcessHet=0.7463;FS=0.53;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=59.87;MQRankSum=0.834;QD=12.31;ReadPosRankSum=1.35;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:410,273:683:99:0|1:31028377_TGAGACCACCACAGCCTCTACTGAAGGCTCC_T:9295,0,15612:31028377	7	0	3	0
chr6	31271103	31271103	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G589A:p.E197K,HLA-C:NM_002117:exon3:c.G589A:p.E197K	.	0	1403	119	0	0	119	0.0406838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	.	0.1110	0.0746	0.0941	0.2012	0.1819	0.1147	0.0891	0.0572	0.0917647	14187	154602	rs1050357	0.0006	0.0078	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0018	0.0003	0.0009	0.0002	0.0026	0.0004	0	0.0005	0.0004	0.0012	0.0003	0.0092	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0	0.093	0.31532	T	0.02	0.59159	D	0.002	0.09854	B	0.006	0.12133	B	0.789762	0.09406	U	0.857122	0.426676	0.32312	P	.	.	.	5.6	0.00825	T	-3.04	0.63782	D	0.031	0.01004	-0.3665	0.73068	T	0.302	0.67297	T	9	0.0043652654	0.00089	T	.	.	.	0.227	0.52620	.	.	.	.	0.223966816434011	0.22311	0.55958892267	0.52497	0.365928024054	0.20246	T	0.015762	0.13159	T	-0.5327	0.00370	T	-0.394143	0.34067	T	0.0614167510250327	0.07389	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-6.911	0.53380	T	.	.	0.143	0.35225	B	.;.;.	.;.;.	2.220269	0.28336	17.76	0.92642286042257171	0.22116	0.17864	0.20020	N	AEFBHCI	0.275676	0.39058	N	-0.179300595314162	0.33997	1.935281	-0.334977477670174	0.26977	1.493829	0.99999999125913	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	2.71	0.31092	-0.711000	0.05121	.	.	-1.944000	0.00489	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:1.0:0.0:0.0	11.543	0.49932	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	rs145793920	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026998	0.005051	0.021739	0.024272	0.000000	0.043103	0.045732	0.041667	0.1	4508.14	158	chr6	31271103	.	C	T	4508.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.759;DP=1269;ExcessHet=0.2348;FS=2.605;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=53.03;MQRankSum=1.28;QD=14.54;ReadPosRankSum=0.485;SOR=0.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,36:152:99:0|1:31271098_G_A:1162,0,4695:31271098	8	0	2	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.35	2550.97	236	chr6	31355425	.	T	C	2550.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.577;DP=1787;ExcessHet=7.0302;FS=23.246;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=57.89;MQRankSum=-12.93;QD=1.95;ReadPosRankSum=-0.449;SOR=1.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:167,26:193:99:.:.:338,0,5199:.	3	0	7	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1867.08	18	chr6	31356716	.	CA	*	1867.08	.	AC=11;AF=0.55;AN=20;DP=445;ExcessHet=1.4371;FS=12.356;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.65;QD=4.56;SOR=1.441	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,25:25:75:1|1:31356711_C_CGGAG:1125,75,0:31356711	2	3	5	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1822.08	18	chr6	31356719	.	GT	*	1822.08	.	AC=11;AF=0.55;AN=20;DP=448;ExcessHet=1.4371;FS=12.366;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.46;QD=4.42;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,25:25:75:1|1:31356711_C_CGGAG:1125,75,0:31356711	2	3	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	7688.91	119	chr6	31356827	.	T	*	7688.91	.	AC=14;AF=0.7;AN=20;DP=1309;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=14;MLEAF=0.7;MQ=53.95;QD=6.02;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,130:130:99:1|1:31356809_C_T:5850,391,0:31356809	1	5	4	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	.	.	.	.	.	.	.	.	0.5	4335.04	114	chr6	31625601	.	T	C	4335.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.295;DP=1214;ExcessHet=22.563;FS=219.133;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=1.54;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,27:129:99:.:.:154,0,3328:.	0	0	10	0
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	.	.	.	.	.	.	.	.	0.5	5289.04	114	chr6	31625602	.	G	A	5289.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.245;DP=1213;ExcessHet=22.563;FS=261.515;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.64;ReadPosRankSum=1.66;SOR=10.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,38:129:99:.:.:572,0,1998:.	0	0	10	0
chr6	31664144	31664144	G	A	exonic	GPANK1	.	nonsynonymous SNV	GPANK1:NM_033177:exon2:c.C335T:p.A112V,GPANK1:NM_001199237:exon3:c.C335T:p.A112V,GPANK1:NM_001199238:exon3:c.C335T:p.A112V,GPANK1:NM_001199239:exon3:c.C335T:p.A112V,GPANK1:NM_001199240:exon3:c.C335T:p.A112V	.	364	1135	22	1	0	24	0.0104621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	.	0.0096	0.00958466	0.0056	0.0191	0.0039	0	0.0021	0.0057	0.0044	0.0023	0.005595	865	154602	rs35265780	0.0049	0.0049	0.0049	0.0049	0.0193	0.0048	0.0048	0.0181	0.0176	0.0193	0.0048	0.0041	0	0.0034	0.0149	0.0048	0.0059	0.0021	0.0082	0.0082	0.0085	0.0080	0.0159	0.0079	0.0077	0.0149	0.0145	0.0159	0	0.0061	0.0046	0	0.0022	0.0272	0.0062	0.0104	0.0012	0.121	0.65419	T	0.016	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.000005	0.62929	D	0.061409	1	0.81001	D	1.235	0.30780	L	0.41	0.57100	T	-1.98	0.64826	N	0.778	0.77695	-0.7156	0.59678	T	0.227	0.59133	T	10	0.008087993	0.00183	T	.	.	.	0.185	0.45933	.	.	0.627026710118	0.62398	0.7747713023650127	0.77427	0.843503759905	0.68176	0.514835476875	0.40900	T	0.007496	0.55798	T	-0.32874	0.06206	T	-0.229393	0.51830	T	0.0210090182334802	0.00802	T	0.855114	0.54241	D	0.31491524	0.54208	0.3773915	0.62840	0.31491524	0.54208	0.3773915	0.62840	-8.575	0.64924	D	.	.	0.488	0.74455	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.090565	0.85006	28.5	0.99914691578211678	0.98309	0.92310	0.55417	D	ALL	0.912430	0.87304	D	0.731584447920702	0.81704	7.584728	0.732916103139159	0.84878	8.416199	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.52208	0.10781	0	0.241949	0.04745	2	.	.	5.25	5.25	0.73169	7.777000	0.84262	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.339	0.82909	889	0.27310	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	0.020697	0.025253	0.039402	0.000000	0.050000	0.008621	0.003049	0.011364	0.05	1874.43	33	chr6	31664144	.	G	A	1874.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.816;DP=485;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.234;SOR=0.717	GT:AD:DP:GQ:PL	0/1:78,79:157:99:1886,0,1893	9	0	1	0
chr6	31962994	31962994	G	T	exonic	SKIV2L	.	nonsynonymous SNV	SKIV2L:NM_006929:exon13:c.G1306T:p.V436L	Trichohepatoenteric syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0296308885566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.057e-06	2.736e-06	0	4.134e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.08	0.87267	M	2.48	0.14657	T	-2.93	0.61284	D	0.79	0.78641	-0.5606	0.66381	T	0.148	0.47433	T	10	0.8657164	0.85814	D	0.029631	0.52101	D	0.476	0.76816	0.779	0.90388	0.522290170867	0.51874	0.8635075243417494	0.86314	1.1876977592	0.80190	0.721200108528	0.70222	T	0.279978	0.65267	T	0.137859	0.68121	D	-0.0397512	0.67718	D	0.99525660276413	0.87099	D	.	.	.	0.67033637	0.76451	0.6851976	0.81491	0.67033637	0.76452	0.6851976	0.81492	-12.126	0.85460	D	.	.	0.968	0.89082	P	.	.	5.663407	0.92889	33	0.99831583802071966	0.91284	0.99221	0.93017	D	AEFDBI	0.934721	0.92850	D	1.04694153520644	0.97017	15.46705	0.944972540640334	0.97252	15.82274	0.999999999999998	0.74766	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	8.561000	0.90511	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	17.230	0.86864	923	0.18507	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2611.43	41	chr6	31962994	.	G	T	2611.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=533;ExcessHet=0;FS=5.28;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.693;SOR=1.072	GT:AD:DP:GQ:PL	0/1:83,100:183:99:2623,0,1884	9	0	1	0
chr6	32181363	32181363	C	T	exonic	AGER	.	nonsynonymous SNV	AGER:NM_001136:exon10:c.G1106A:p.R369Q,AGER:NM_001206929:exon10:c.G1154A:p.R385Q,AGER:NM_001206932:exon10:c.G1064A:p.R355Q	.	415	1020	79	8	0	95	0.0444965	.	.	.	699532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0024	0.00958466	0.0074	0.0015	0.0288	0.0080	0	0.0020	0.0067	0.0201	0.0068628	1061	154602	rs3176931	0.0035	0.0035	0.0029	0.0040	0.0236	0.0034	0.0034	0.0224	0.0219	0.0007	0.0236	7.677e-05	0.0061	0.0002	0.0167	0.0012	0.0085	0.0204	0.0034	0.0034	0.0036	0.0032	0.0184	0.0032	0.0031	0.0153	0.0142	0.0012	0	0.0113	0	0.0110	9.407e-05	0.0102	0.0019	0.0080	0.0184	0.532	0.91255	T	0.704	0.09052	T	0.007	0.14184	B	0.003	0.08700	B	0.375220	0.04386	N	1.379500	1	0.08975	N	.	.	.	1.19	0.37910	T	-0.47	0.52128	N	0.096	0.07811	-1.0536	0.13413	T	0.017	0.06902	T	10	0.002130419	0.00031	T	.	.	.	0.039	0.10176	.	.	0.0716867268079	0.06686	0.17818856528763435	0.17737	0.176059839668	0.19819	0.226081043482	0.01691	T	0.005723	0.24916	T	-0.636222	0.00088	T	-0.668412	0.07711	T	0.00302830581673903	0.00032	T	0.408059	0.10511	T	0.016678704	0.00214	0.035600707	0.02844	0.016678704	0.00214	0.035600707	0.02843	-4.933	0.37548	T	.	.	0.069	0.06024	B	.;.;.;.;.	.;.;.;.;.	-0.020336	0.04144	0.990	0.811079802221224	0.13523	0.01926	0.05878	N	AEFBCI	0.022353	0.01107	N	-2.21518179078559	0.00071	0.003031937	-2.27190542192637	0.00077	0.003372642	0.999999999933849	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.29	-8.51	0.00804	-2.400000	0.01127	.	.	-1.756000	0.00682	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.6835:0.1041:0.2124	14.712	0.68856	929	0.16858	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013072	0.005051	0.002717	0.047872	0.000000	0.000000	0.003049	0.045455	0.15	5477.45	33	chr6	32181363	.	C	T	5477.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.03;DP=704;ExcessHet=0.7463;FS=0.521;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.542;SOR=0.625	GT:AD:DP:GQ:PL	0/1:80,71:151:99:1828,0,2049	7	0	3	0
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	14871.3	264	chr6	32521981	.	T	*	14871.3	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.364;DP=1956;ExcessHet=5.1594;FS=8.865;InbreedingCoeff=-0.4141;MLEAC=4;MLEAF=0.2;MQ=52.74;MQRankSum=-4.675;QD=7.98;ReadPosRankSum=-3.763;SOR=1.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:291,48:358:99:.:.:1129,0,12075:.	6	0	4	0
chr6	32584280	32584280	C	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.G199C:p.V67L	.	1	1389	105	1	26	133	0.0370884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	.	.	.	0.0204	0.0214	0.0272	0.0104	0.0245	0.0234	0.0154	0.0068	0.0077993	203	26028	rs17878614	0.0002	0.0028	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0002	0.0002	4.679e-05	0	5.842e-05	0.0003	0	0.0003	0.0002	1.237e-05	0.0003	0.0034	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0004	0	0.0005	0.0004	0	0.0004	0	0	0.226	0.18562	T	0.298	0.20486	T	0.0	0.02946	B	0.0	0.01387	B	0.839475	0.06991	N	1.086700	1	0.08975	N	.	.	.	7.94	0.00325	T	-1.68	0.40082	N	0.034	0.00942	-0.9628	0.38645	T	0.000	0.00039	T	10	0.0073911548	0.00168	T	.	.	.	0.344	0.66582	0.357	0.35897	.	.	0.2725535461198692	0.27168	0.70435521742	0.61311	.	.	.	0.017737	0.14423	T	-0.487391	0.00672	T	-0.472202	0.25279	T	0.01040418298686	0.00143	T	0.0464954	0.00331	T	0.43241236	0.62909	0.15221174	0.35821	0.43241236	0.62910	0.15221174	0.35820	-5.471	0.41596	T	.	.	0.165	0.36375	B	.	.	-0.978415	0.00802	0.026	0.41590716082416673	0.03011	0.01461	0.04883	N	AEFDGBCIJ	0.181378	0.30869	N	-2.69307713427383	0.00005	0.0002449113	-2.79087809953605	0.00004	0.0002126685	0.999999999857912	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	3.52	-7.04	0.01423	-2.303000	0.01216	.	.	-4.118000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1964:0.2042:0.3874:0.212	2.062	0.03376	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.083246	0.121212	0.117166	0.037037	0.100000	0.087719	0.060976	0.041985	0.15	10222.5	423	chr6	32584280	.	C	G	10222.5	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.414;DP=3898;ExcessHet=0.7463;FS=0.606;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=56.24;MQRankSum=0.958;QD=7.05;ReadPosRankSum=0.636;SOR=0.721	GT:AD:DP:GQ:PL	0/1:380,142:522:99:4743,0,15325	7	0	3	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	26425.4	342	chr6	32584370	.	G	*	26425.4	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.65;DP=2365;ExcessHet=0.2065;FS=9.525;InbreedingCoeff=0.2;MLEAC=7;MLEAF=0.35;MQ=54.75;MQRankSum=-13.78;QD=11.54;ReadPosRankSum=-2.424;SOR=1.336	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,74:412:84:0|1:32584366_C_T:2307,0,10906:32584366	3	0	7	0
chr6	32589652	32589652	C	T	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.G91A:p.D31N	.	1	1468	50	3	0	56	0.0187166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00201232087945	0.0001	0.000199681	0.0005	0.0001	0.0004	0.0004	0	9.232e-05	0	0.0026	0.0003687	57	154602	rs372634318	0.0004	0.0003	0.0002	0.0005	0.0166	0.0003	0.0003	0.0126	0.0112	0	0.0001	0	0.0004	2.422e-05	0.0166	2.577e-05	0.0005	0.0045	0.0001	0.0001	1.844e-05	0.0002	0.0037	7.345e-05	5.846e-05	0.0020	0.0015	0	0	0	0	0.0003	0	0	4.035e-05	0	0.0037	0.0	0.91255	D	0.071	0.43531	T	0.987	0.61912	D	0.914	0.64984	D	0.396439	0.04508	N	1.376800	1	0.08975	N	.	.	.	8.35	0.00252	T	-1.93	0.44852	N	0.438	0.47672	-0.8790	0.49840	T	0.001	0.00255	T	10	0.017746776	0.00381	T	0.002012	0.03642	T	0.089	0.25827	.	.	0.447901950027	0.44410	0.15851251124645957	0.15772	0.75651630784	0.64033	.	.	.	0.012023	0.10639	T	-0.46956	0.00855	T	-0.451571	0.27523	T	0.173749442671835	0.18832	T	0.757524	0.38090	T	0.31595802	0.54297	0.2519697	0.50818	0.31595802	0.54297	0.2519697	0.50817	-7.629	0.58513	D	.	.	0.100	0.16929	B	.	.	3.743977	0.53625	23.4	0.99823868945339478	0.90677	0.07660	0.13666	N	ALL	0.253131	0.37268	N	0.00761355807847777	0.42201	2.538276	-0.200087543572262	0.31534	1.785499	0.999999814549714	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.53	0.29594	0.909000	0.28180	.	.	0.595000	0.32841	0.785000	0.29533	0.000000	0.08366	0.010000	0.09038	0.0:0.7072:0.1881:0.1047	6.172	0.19638	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	0.005371	0.000000	0.000000	0.031250	0.000000	0.000000	0.000000	0.011450	0.05	4030.43	162	chr6	32589652	.	C	T	4030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.648;DP=1635;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.25;MQRankSum=13;QD=20.78;ReadPosRankSum=0.171;SOR=0.693	GT:AD:DP:GQ:PL	0/1:88,106:194:99:4042,0,3306	9	0	1	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3665.7	286	chr6	32641444	.	G	*	3665.7	.	AC=8;AF=0.4;AN=20;DP=1693;ExcessHet=0.0657;FS=16.269;InbreedingCoeff=0.3939;MLEAC=8;MLEAF=0.4;MQ=54.37;QD=3.34;SOR=1.06	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,65:240:99:0|1:32641430_C_T:2203,0,7153:32641430	4	2	4	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3623.7	286	chr6	32641445	.	A	*	3623.7	.	AC=8;AF=0.4;AN=20;DP=1691;ExcessHet=0.0657;FS=16.269;InbreedingCoeff=0.3939;MLEAC=8;MLEAF=0.4;MQ=54.52;QD=3.31;SOR=1.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,65:240:99:0|1:32641430_C_T:2203,0,7153:32641430	4	2	4	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3985.28	312	chr6	32641462	.	G	*	3985.28	.	AC=7;AF=0.35;AN=20;DP=1723;ExcessHet=0.0059;FS=7.005;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=56.07;QD=4.28;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,64:254:99:0|1:32641430_C_T:2116,0,7728:32641430	5	2	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3985.28	312	chr6	32641464	.	T	*	3985.28	.	AC=7;AF=0.35;AN=20;DP=1725;ExcessHet=0.0059;FS=7.005;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=56.12;QD=4.28;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,64:254:99:0|1:32641430_C_T:2116,0,7728:32641430	5	2	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7913.28	297	chr6	32641501	.	G	*	7913.28	.	AC=7;AF=0.35;AN=20;DP=1762;ExcessHet=0.0059;FS=1.741;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=58.11;QD=8.07;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:227,57:284:99:0|1:32641476_G_A:1710,0,9360:32641476	5	2	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7853.28	315	chr6	32641522	.	A	*	7853.28	.	AC=7;AF=0.35;AN=20;DP=1846;ExcessHet=0.0059;FS=0.525;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=58.47;QD=7.54;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:220,57:277:99:0|1:32641476_G_A:1577,0,9029:32641476	5	2	3	0
chr6	32976813	32976813	G	C	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon6:c.G1077C:p.E359D,BRD2:NM_001199456:exon6:c.G936C:p.E312D,BRD2:NM_001113182:exon7:c.G1077C:p.E359D,BRD2:NM_005104:exon7:c.G1077C:p.E359D,BRD2:NM_001291986:exon8:c.G717C:p.E239D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00495405745945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.37118	T	0.074	0.50809	T	0.859	0.47319	P	0.583	0.50264	P	0.000100	0.51296	D	0.000000	0.999954	0.52396	D	1.39	0.34934	L	1.69	0.27032	T	-2.46	0.54382	N	0.374	0.41656	-0.9159	0.46103	T	0.139	0.45791	T	10	0.7555315	0.75953	D	0.004954	0.12473	T	0.214	0.50650	0.764	0.89213	0.795092722254	0.79318	0.38390423038742355	0.38305	.	.	0.88716673851	0.94903	D	0.25597	0.62682	T	-0.0318077	0.47154	T	-0.283466	0.46448	T	0.861240744590759	0.51164	D	0.932807	0.74830	D	0.2851387	0.51537	0.24049516	0.49424	0.2851387	0.51536	0.24049516	0.49423	-8.011	0.62707	D	.	.	0.316	0.68110	B	.;.;.;.;.	.;.;.;.;.	1.317149	0.17209	13.02	0.99724235207631218	0.82266	0.64946	0.32573	D	AEFBHCI	0.651563	0.62527	D	-0.254297126603731	0.30933	1.729516	-0.327949304023803	0.27200	1.507636	0.999993130444119	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.08	-0.139	0.12803	0.063000	0.14285	.	.	-0.748000	0.03609	0.005000	0.17040	0.997000	0.33255	0.984000	0.60418	0.4072:0.0:0.5928:0.0	9.394	0.37553	906	0.23090	Bromodomain|Bromodomain;Bromodomain|Bromodomain;Bromodomain|Bromodomain;.;Bromodomain|Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	1057.03	121	chr6	32976813	.	G	C	1057.03	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.921;DP=1348;ExcessHet=4.5998;FS=168.259;InbreedingCoeff=-0.4406;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=1.24;SOR=10.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,24:137:22:0|1:32976813_G_C:22,0,3611:32976813	7	0	2	1
chr6	33772728	33772728	T	C	exonic	LEMD2	.	nonsynonymous SNV	LEMD2:NM_001143944:exon8:c.A506G:p.N169S,LEMD2:NM_001348709:exon9:c.A506G:p.N169S,LEMD2:NM_001348710:exon9:c.A1013G:p.N338S,LEMD2:NM_181336:exon9:c.A1412G:p.N471S	Cataract 46, juvenile-onset, Autosomal recessive	429	1092	1	0	0	1	0.000457666	.	.	.	4163405	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.00861643987822	.	.	0.0001	0	0	0	0	0.0002	0	6.149e-05	0.0001035	16	154602	rs754334541	6.568e-05	6.635e-05	6.126e-05	7.014e-05	0.0003	5.495e-05	5.107e-05	6.092e-05	4.484e-05	0	0	0.0004	2.519e-05	3.754e-05	0.0003	6.115e-05	9.935e-05	6.957e-05	5.255e-05	5.253e-05	5.138e-05	5.378e-05	0.0004	2.556e-05	1.83e-05	7.279e-05	3.025e-05	2.412e-05	0	0	0.0006	0	0	0	4.41e-05	0	0.0004	0.217	0.46910	T	0.0	0.92824	D	0.705	0.41986	P	0.355	0.42984	B	0.000130	0.49741	D	0.085235	0.999242	0.52935	D	2.445	0.70938	M	.	.	.	-4.71	0.79915	D	0.405	0.44570	-0.8988	0.48115	T	0.124	0.42757	T	9	0.32252622	0.49601	T	0.008616	0.22779	T	0.211	0.50185	0.754	0.88402	0.538561335957	0.53506	0.8008757854619355	0.80041	1.36812693153	0.84473	0.563203692436	0.47720	T	0.414051	0.83820	T	-0.300596	0.08604	T	-0.409882	0.32238	T	0.278540700674057	0.24110	T	0.90391	0.66280	D	0.10133952	0.23937	0.13030757	0.31314	0.10133952	0.23937	0.13030757	0.31313	-11.86	0.84162	D	.	.	0.124	0.60751	B	.;.;.;.	.;.;.;.	3.200518	0.43526	21.7	0.99775713687680323	0.86346	0.84600	0.43683	D	ALL	0.521944	0.54616	D	0.0941739997124988	0.46190	2.863317	0.17775129481006	0.48630	3.076392	0.99999999993761	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.35	4.18	0.48473	4.308000	0.58922	2.377000	0.32464	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.777000	0.36790	0.0:0.0726:0.0:0.9274	11.136	0.47600	704	0.57414	Man1-Src1p-C-terminal domain;Man1-Src1p-C-terminal domain;Man1-Src1p-C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1592.43	33	chr6	33772728	.	T	C	1592.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.901;DP=593;ExcessHet=0;FS=4.518;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.313;SOR=1.156	GT:AD:DP:GQ:PL	0/1:59,61:120:99:1604,0,1445	9	0	1	0
chr6	38815553	38815553	A	G	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon25:c.A2768G:p.H923R,DNAH8:NM_001206927:exon26:c.A3419G:p.H1140R	.	425	1094	3	0	0	3	0.00136924	.	.	.	239913	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.128	.	.	0.00798722	0.0041	0	0.0004	0	0	3.002e-05	0.0011	0.0298	0.0035963	556	154602	rs377516809	0.0017	0.0017	0.0009	0.0025	0.0281	0.0017	0.0016	0.0272	0.0268	8.962e-05	0	0	2.52e-05	0	0.0007	1.169e-05	0.0013	0.0281	0.0009	0.0009	0.0006	0.0012	0.0278	0.0008	0.0007	0.0240	0.0225	0	0	0	0	0.0002	0	0	2.94e-05	0.0009	0.0278	0.422	0.09776	T	.	.	.	0.017	0.17573	B	0.003	0.08700	B	0.000081	0.52346	D	0.130506	0.662714	0.33067	D	1.21	0.30464	L	0.35	0.58029	T	-0.73	0.23372	N	0.449	0.48689	-1.1100	0.03070	T	0.037	0.15899	T	10	0.008993506	0.00203	T	.	.	.	0.128	0.35103	.	.	0.717392553567	0.71491	0.3847445113683057	0.38389	0.150328258347	0.16959	0.497708946466	0.38508	T	0.002196	0.01594	T	-0.389989	0.02691	T	-0.312019	0.43441	T	0.0345090785547442	0.02725	T	0.727427	0.34191	T	0.1872681	0.40174	0.1703512	0.39137	0.18060398	0.39190	0.16675694	0.38506	-2.182	0.03954	T	.	.	0.209	0.50025	B	.;.;.	.;.;.	2.791086	0.36690	20.3	0.95934945667142713	0.28225	0.95366	0.64440	D	AEFBI	0.735864	0.68155	D	-0.210741246795145	0.32693	1.846498	0.0459148333360851	0.41875	2.523123	0.999861014243844	0.44398	0.623552	0.39893	0	0.610034	0.51514	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.74	5.74	0.90070	6.425000	0.73295	8.048000	0.76344	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.28	0.65756	490	0.76723	.;.;.	.	.	.	.	.	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	0.005035	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.018939	0.05	1128.43	39	chr6	38815553	.	A	G	1128.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=449;ExcessHet=0;FS=0.674;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=1.11;SOR=0.784	GT:AD:DP:GQ:PL	0/1:73,51:124:99:1140,0,1665	9	0	1	0
chr6	39012311	39012311	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon89:c.C12817T:p.R4273C,DNAH8:NM_001206927:exon90:c.C13468T:p.R4490C	.	434	1083	5	0	0	5	0.00230309	.	.	.	239935	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.414	.	7.7e-05	0.0115815	0.0050	0.0003	0.0008	0.0116	0.0002	0.0002	0.0022	0.0293	0.0044631	690	154602	rs78849281	0.0028	0.0028	0.0020	0.0035	0.0339	0.0027	0.0027	0.0323	0.0317	0.0002	6.71e-05	0	0.0339	9.365e-05	0.0007	8.281e-05	0.0021	0.0285	0.0016	0.0016	0.0012	0.0020	0.0294	0.0014	0.0014	0.0255	0.0240	0.0001	0	0.0002	0	0.0158	0.0003	0	8.821e-05	0.0009	0.0294	0.001	0.78490	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.715	0.94732	H	2.84	0.10674	T	-7.43	0.94843	D	0.808	0.83371	-0.7568	0.57578	T	0.119	0.41799	T	10	0.0075264275	0.00171	T	.	.	.	0.414	0.72479	.	.	0.617481672061	0.61438	0.7577948668358869	0.75727	0.673258825652	0.59583	0.602618634701	0.53275	T	0.255742	0.62657	T	-0.187723	0.22592	T	-0.000691574	0.70290	D	0.143817794314389	0.16600	T	0.957104	0.83854	D	0.7857521	0.83009	0.6811706	0.81264	0.8037435	0.84147	0.5543644	0.74227	-10.566	0.77225	D	.	.	0.405	0.66854	A	.;.	.;.	3.699783	0.52758	23.3	0.99846909662126826	0.92663	0.96428	0.69091	D	AEFBI	0.425123	0.49002	N	0.904629227555576	0.91984	11.17057	0.810583749138536	0.90519	10.44474	0.0613127230988003	0.15227	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.16	5.27	0.73797	1.399000	0.34175	3.267000	0.37132	0.599000	0.40250	0.998000	0.41325	0.998000	0.33993	0.984000	0.60418	0.2627:0.7373:0.0:0.0	14.579	0.67871	703	0.57489	Dynein heavy chain domain;Dynein heavy chain 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	0.004028	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.022727	0.05	1978.43	42	chr6	39012311	.	C	T	1978.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.27;DP=472;ExcessHet=0;FS=4.956;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.948;SOR=1.136	GT:AD:DP:GQ:PL	0/1:78,73:151:99:1990,0,1796	9	0	1	0
chr6	39086015	39086015	G	C	exonic	GLP1R	.	nonsynonymous SNV	GLP1R:NM_002062:exon13:c.G1334C:p.S445T	.	412	1106	4	0	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	.	0.00319489	0.0020	0	0.0003	0	0	3.002e-05	0.0011	0.0147	0.0017917	277	154602	rs201672448	0.0009	0.0009	0.0005	0.0014	0.0150	0.0009	0.0009	0.0143	0.0140	0	2.236e-05	0	7.557e-05	0	0.0005	5.396e-06	0.0009	0.0150	0.0005	0.0005	0.0004	0.0006	0.0147	0.0004	0.0004	0.0120	0.0110	0	0	0	0	0	0	0	2.941e-05	0.0005	0.0147	0.207	0.19854	T	0.125	0.35330	T	0.022	0.18677	B	0.004	0.10090	B	0.000017	0.62929	D	0.072732	0.999056	0.45965	D	2.78	0.81115	M	0.7	0.51474	T	-1.04	0.27259	N	0.089	0.06720	-1.0108	0.26666	T	0.097	0.36522	T	10	0.0060991645	0.00137	T	.	.	.	0.097	0.27909	.	.	0.742283290031	0.73996	0.4908779703742634	0.49007	0.649209194799	0.58240	0.331426739693	0.15150	T	0.289449	0.66224	T	-0.43353	0.01412	T	-0.383188	0.35348	T	0.0655294104330482	0.08010	T	0.630737	0.24588	T	0.1698624	0.37527	0.27198887	0.53105	0.1698624	0.37527	0.27198887	0.53104	-3.526	0.16798	T	.	.	0.068	0.02894	B	.	.	2.328705	0.29829	18.25	0.95904166326164608	0.28139	0.94453	0.61214	D	AEFDBI	0.638283	0.61675	D	0.0388317285984963	0.43630	2.652185	0.188912085073855	0.49238	3.129465	0.999999161915244	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.63	5.63	0.86108	5.695000	0.67940	9.268000	0.79613	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.611000	0.31665	0.0:0.0:1.0:0.0	19.710	0.96085	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.000000	0.008772	0.000000	0.000000	0.003049	0.015152	0.05	914.43	33	chr6	39086015	.	G	C	914.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.423;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.341;SOR=0.642	GT:AD:DP:GQ:PL	0/1:59,39:98:99:926,0,1551	9	0	1	0
chr6	41740500	41740500	C	T	exonic	PGC	.	nonsynonymous SNV	PGC:NM_002630:exon6:c.G758A:p.G253D	.	417	1080	24	1	0	26	0.0118939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	0.0021	0.00139776	0.0029	0.0004	0.0010	0.0001	0	0.0022	0.0146	0.0112	0.0024967	386	154602	rs146769097	0.0019	0.0019	0.0015	0.0022	0.0105	0.0018	0.0018	0.0099	0.0097	0.0001	0.0007	0.0081	5.078e-05	0	0.0068	0.0013	0.0026	0.0105	0.0014	0.0014	0.0013	0.0014	0.0068	0.0012	0.0012	0.0050	0.0044	0.0003	0	0.0012	0.0095	0	0	0.0034	0.0016	0.0024	0.0068	0.067	0.35918	T	0.61	0.07691	T	0.995	0.67487	D	0.887	0.62952	P	0.156595	0.17795	N	0.572523	1	0.08975	N	0.77	0.19370	N	0.44	0.56609	T	-1.77	0.41809	N	0.297	0.33578	-0.9958	0.31082	T	0.100	0.37290	T	10	0.008054823	0.00183	T	.	.	.	0.181	0.45247	.	.	0.468003879618	0.46428	0.612523108828657	0.61184	0.202384851127	0.22661	0.36427628994	0.20007	T	0.032225	0.22391	T	-0.478077	0.00759	T	-0.451539	0.27528	T	0.0154015321060609	0.00344	T	0.657934	0.26722	T	0.11558035	0.27272	0.12309866	0.29686	0.11558035	0.27272	0.12309866	0.29686	-7.998	0.61057	D	.	.	0.226	0.45750	B	.	.	1.557426	0.19955	14.52	0.98829675087421176	0.46936	0.10204	0.15775	N	AEFBCI	0.122361	0.23747	N	-0.656866268285708	0.17260	0.8866704	-0.79779014470838	0.14549	0.7607732	0.999771066895117	0.42865	0.487112	0.14033	0	0.563428	0.19063	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	5.08	2.17	0.26736	-0.307000	0.08206	-0.457000	0.09062	-0.924000	0.02182	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.4442:0.4811:0.0746	10.399	0.43404	579	0.69780	Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.007576	0.05	1881.43	35	chr6	41740500	.	C	T	1881.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.732;DP=513;ExcessHet=0;FS=1.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-2.424;SOR=0.84	GT:AD:DP:GQ:PL	0/1:116,82:198:99:1893,0,3025	9	0	1	0
chr6	41806238	41806238	G	C	exonic	USP49	.	nonsynonymous SNV	USP49:NM_001384542:exon3:c.C746G:p.A249G,USP49:NM_001286554:exon4:c.C746G:p.A249G,USP49:NM_018561:exon4:c.C746G:p.A249G	.	415	1098	8	1	0	10	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0004	0.00519169	0.0032	0	8.839e-05	0.0001	0	0.0006	0.0012	0.0202	0.0026778	414	154602	rs199768863	0.0014	0.0014	0.0009	0.0020	0.0187	0.0014	0.0013	0.0180	0.0177	5.975e-05	2.236e-05	0.0063	2.519e-05	0	0.0005	0.0001	0.0021	0.0187	0.0009	0.0009	0.0006	0.0012	0.0213	0.0008	0.0007	0.0180	0.0167	4.81e-05	0	6.532e-05	0.0069	0.0002	0	0	4.412e-05	0	0.0213	0.007	0.59928	D	0.001	0.83351	D	0.246	0.31102	B	0.138	0.33406	B	0.000049	0.53742	D	0.166764	0.997734	0.44143	D	0	0.06538	N	3.71	0.72889	T	-2.05	0.47852	N	0.11	0.10911	-1.0206	0.23519	T	0.101	0.37316	T	10	0.0052627027	0.00115	T	.	.	.	0.036	0.09122	.	.	0.45212351173	0.44835	0.4759076027485112	0.47509	1.02685030857	0.75306	0.689787089825	0.65676	T	0.033222	0.22822	T	-0.443527	0.01233	T	-0.394277	0.34051	T	0.0340838584016603	0.02652	T	0.90321	0.69967	D	0.17794572	0.38788	0.21373457	0.45895	0.17794572	0.38787	0.21373457	0.45894	-7.956	0.60948	D	.	.	0.235	0.50799	B	.;.;.	.;.;.	3.663316	0.52058	23.2	0.99340069357599914	0.60131	0.97582	0.75697	D	AEFBI	0.528459	0.54997	D	-0.217572239472958	0.32412	1.827677	-0.0916801425904128	0.35734	2.070842	0.997753819789451	0.35989	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.491896	0.07777	0	.	.	4.26	3.39	0.37919	4.282000	0.58764	11.329000	0.92538	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0869:0.0:0.9131:0.0	11.823	0.51526	479	0.77495	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.05	1281.43	39	chr6	41806238	.	G	C	1281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.75;DP=460;ExcessHet=0;FS=0.837;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.465;SOR=0.579	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1293,0,1417	9	0	1	0
chr6	43348445	43348445	A	T	exonic	ZNF318	.	nonsynonymous SNV	ZNF318:NM_014345:exon6:c.T2951A:p.I984N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	.	0.00219649	0.0009	9.612e-05	8.637e-05	0	0	1.498e-05	0	0.0068	0.0008215	127	154602	rs200879474	0.0004	0.0004	0.0002	0.0006	0.0071	0.0004	0.0004	0.0066	0.0064	0	2.236e-05	0	0	0	0.0005	1.799e-06	0.0005	0.0071	0.0003	0.0003	0.0002	0.0005	0.0098	0.0003	0.0002	0.0075	0.0068	7.222e-05	0	0	0	0	0	0	0	0	0.0098	0.001	0.78490	D	0.043	0.49942	D	0.988	0.62325	D	0.837	0.59984	P	0.000525	0.43581	D	0.239316	0.603643	0.34850	D	2.3	0.65703	M	2.33	0.16492	T	-2.0	0.46146	N	0.582	0.60325	-1.0346	0.18983	T	0.063	0.26172	T	10	0.004310578	0.00087	T	.	.	.	0.129	0.35316	0.189	0.09907	0.533325340949	0.52981	0.2491202305777943	0.24826	0.477027003376	0.46822	0.525344610214	0.42379	T	0.183588	0.53598	T	-0.396855	0.02428	T	-0.339385	0.40414	T	0.123587241737642	0.14778	T	0.89791	0.64303	D	0.39195234	0.60170	0.37551263	0.62694	0.39195234	0.60171	0.37551263	0.62693	-9.636	0.71703	D	.	.	0.621	0.69730	P	.	.	4.556541	0.71761	25.7	0.99410894136725292	0.63263	0.96034	0.67234	D	AEFGBI	0.467509	0.51471	N	0.497183944019686	0.66925	5.013714	0.567742900786107	0.72642	5.841954	0.999996838982928	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.750000	0.61857	11.092000	0.85948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9301:0.0:0.0699:0.0	10.827	0.45844	177	0.93145	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1706.43	35	chr6	43348445	.	A	T	1706.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.875;DP=552;ExcessHet=0;FS=1.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=-1.626;SOR=0.546	GT:AD:DP:GQ:PL	0/1:128,80:208:99:1718,0,3322	9	0	1	0
chr6	43505568	43505568	C	T	exonic	TJAP1	.	stopgain	TJAP1:NM_001146020:exon9:c.C1357T:p.R453X,TJAP1:NM_001146017:exon10:c.C1387T:p.R463X,TJAP1:NM_001146019:exon10:c.C1357T:p.R453X,TJAP1:NM_001350564:exon10:c.C1387T:p.R463X,TJAP1:NM_001350566:exon10:c.C1387T:p.R463X,TJAP1:NM_001350568:exon10:c.C1387T:p.R463X,TJAP1:NM_001350569:exon10:c.C1357T:p.R453X,TJAP1:NM_080604:exon10:c.C1357T:p.R453X,TJAP1:NM_001146016:exon11:c.C1387T:p.R463X,TJAP1:NM_001146018:exon11:c.C1357T:p.R453X,TJAP1:NM_001350562:exon11:c.C1387T:p.R463X,TJAP1:NM_001350563:exon11:c.C1387T:p.R463X,TJAP1:NM_001350565:exon11:c.C1387T:p.R463X,TJAP1:NM_001350567:exon11:c.C1387T:p.R463X,TJAP1:NM_001350570:exon11:c.C1357T:p.R453X,TJAP1:NM_001350561:exon12:c.C1387T:p.R463X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.673e-05	0	0	0	0.0002	1.525e-05	0	0	1.29e-05	2	154602	rs200207672	2.737e-05	2.736e-05	2.859e-05	2.613e-05	3.058e-05	2.063e-05	1.816e-05	2.201e-05	1.942e-05	2.987e-05	0	0	2.519e-05	1.888e-05	0	3.058e-05	1.656e-05	2.319e-05	6.57e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.113779	0.19302	N	0.587101	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.154	0.16308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449926	0.92479	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;Recessive;Recessive	.;High;.;.;.;High;High	6.051817	0.94442	34	0.99271692099484543	0.57593	0.44910	0.27422	N	AEFBI	0.147336	0.27099	N	-0.0366512961968197	0.40202	2.383383	-0.34069874245975	0.26797	1.482576	0.999998924800914	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.53	3.74	0.42108	1.189000	0.31723	0.381000	0.17781	-0.873000	0.02525	0.157000	0.23755	0.000000	0.08366	0.002000	0.04165	0.0:0.8001:0.1302:0.0697	11.004	0.46835	224	0.91330	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1698.43	37	chr6	43505568	.	C	T	1698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.326;DP=471;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-1.041;SOR=0.725	GT:AD:DP:GQ:PL	0/1:80,73:153:99:1710,0,1942	9	0	1	0
chr6	51747954	51747954	G	A	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon58:c.C9662T:p.P3221L,PKHD1:NM_170724:exon58:c.C9662T:p.P3221L	Polycystic kidney and hepatic disease, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	YES	584953	not_provided|Autosomal_recessive_polycystic_kidney_disease|Polycystic_kidney_disease_4|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.649	0.156976184494	7.7e-05	0.000599042	0.0004	0	0.0009	0.0009	0	0.0002	0.0011	0.0009	0.0003558	55	154602	rs145141656	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0001	0.0009	0.0008	0	0.0005	0	0.0005	3.744e-05	0.0014	8.184e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	2.406e-05	0	0.0005	0	0.0017	0	0	0.0001	0.0005	0.0006	0.034	0.44029	D	0.0	0.92824	D	0.999	0.77913	D	0.947	0.68407	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	2.685	0.78553	M	-2.19	0.88220	D	-5.01	0.82450	D	0.735	0.73555	0.557	0.91328	D	0.780	0.92533	D	10	0.40283522	0.55688	T	0.156976	0.83765	D	0.649	0.86736	.	.	0.986146681602	0.98600	0.778799825702771	0.77830	0.383681325765	0.39687	0.494530618191	0.38067	T	0.677361	0.90489	D	-0.0569405	0.43385	T	0.0998807	0.76899	D	0.161572201706103	0.17986	T	0.858114	0.54842	D	0.34597814	0.56752	0.32062638	0.58016	0.34597814	0.56752	0.32062638	0.58015	-2.764	0.08156	T	0.9030721398646884	0.95383	0.426	0.60962	A	.;.	.;.	4.610580	0.73108	25.9	0.99889032850872617	0.96359	0.96658	0.70254	D	AEFBI	0.734510	0.68062	D	0.644118176427166	0.75989	6.404379	0.595012324930423	0.74581	6.16148	0.998148392271184	0.36487	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	6.539000	0.73760	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.496000	0.28927	0.0:0.0:1.0:0.0	18.931	0.92542	587	0.69154	.;.	.	.	.	.	.	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	0.05	1380.43	37	chr6	51747954	.	G	A	1380.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.03;DP=447;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-1.111;SOR=0.701	GT:AD:DP:GQ:PL	0/1:69,53:122:99:1392,0,1702	9	0	1	0
chr6	56170982	56170982	C	A	exonic	COL21A1	.	nonsynonymous SNV	COL21A1:NM_001318752:exon4:c.G787T:p.V263F,COL21A1:NM_030820:exon4:c.G787T:p.V263F,COL21A1:NM_001318751:exon5:c.G787T:p.V263F	.	431	1089	1	1	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00452190046644	.	.	0.0003	0	0.0022	0	0	6.14e-05	0	6.785e-05	0.000194	30	154602	rs766630871	4.547e-05	4.857e-05	5.343e-05	3.741e-05	0.0008	3.667e-05	3.345e-05	0.0006	0.0005	0	0.0008	0.0002	2.528e-05	0	0	1.444e-05	0.0001	5.952e-05	3.289e-05	3.284e-05	3.858e-05	2.694e-05	0.0001	1.262e-05	7.99e-06	2.266e-05	9.09e-06	0	0	0.0001	0.0003	0	0	0	2.946e-05	0	0	0.208	0.29688	T	0.044	0.49663	D	0.976	0.58310	D	0.601	0.54635	P	0.006953	0.31695	U	0.137302	0.901447	0.27692	N	1.965	0.53209	M	4.43	0.02158	T	-0.71	0.21215	N	0.358	0.41656	-0.8070	0.54730	T	0.004	0.01365	T	10	0.040469646	0.02618	T	0.004522	0.11125	T	0.105	0.29889	0.3	0.26683	0.28297238246	0.27903	0.7169783331776748	0.71640	0.0257209191856	0.02628	0.575532734394	0.49457	T	0.018121	0.14664	T	-0.44734	0.01171	T	-0.500855	0.22260	T	0.0521769658961609	0.05877	T	0.838916	0.51225	T	0.12338673	0.28974	0.089986175	0.21077	0.12338673	0.28974	0.089986175	0.21076	-9.636	0.71703	D	.	.	0.144	0.31783	B	.;.;.	.;.;.	3.321227	0.45682	22.2	0.96750403701605658	0.30957	0.49098	0.28356	N	AEFBI	0.318631	0.42227	N	0.0368829675599821	0.43539	2.644942	0.0274800089729897	0.40995	2.455627	0.00240941559322817	0.09398	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.66	3.72	0.41857	0.662000	0.24721	1.267000	0.25267	0.549000	0.26987	0.288000	0.25215	1.000000	0.68203	0.997000	0.79791	0.174:0.6556:0.0:0.1703	4.993	0.13571	711	0.56613	Laminin G domain;.;Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	3011.43	33	chr6	56170982	.	C	A	3011.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=551;ExcessHet=0;FS=5.416;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-2.452;SOR=1.029	GT:AD:DP:GQ:PL	0/1:128,113:241:99:3023,0,3215	9	0	1	0
chr6	56640283	56640283	G	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon4:c.C739G:p.P247A,DST:NM_015548:exon4:c.C739G:p.P247A,DST:NM_001374729:exon14:c.C1717G:p.P573A,DST:NM_001374730:exon14:c.C1717G:p.P573A,DST:NM_183380:exon14:c.C1717G:p.P573A,DST:NM_001144770:exon15:c.C1837G:p.P613A,DST:NM_001144769:exon17:c.C2251G:p.P751A,DST:NM_001374722:exon18:c.C2350G:p.P784A,DST:NM_001374734:exon18:c.C2377G:p.P793A,DST:NM_001374736:exon18:c.C2350G:p.P784A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	2	1475	43	2	0	47	0.0156823	.	.	.	308408	DST-related_disorder|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided|Inborn_genetic_diseases	.|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	.	0.0018	0.00299521	0.0033	0.0004	0.0012	0	0.0002	0.0030	0.0022	0.0107	0.0031177	482	154602	rs151271595	0.0028	0.0028	0.0025	0.0030	0.0102	0.0027	0.0027	0.0096	0.0094	0.0006	0.0014	0.0029	2.519e-05	0.0004	0.0095	0.0024	0.0033	0.0102	0.0018	0.0018	0.0017	0.0019	0.0097	0.0016	0.0016	0.0075	0.0067	0.0006	0	0.0023	0.0037	0.0002	0	0.0034	0.0022	0.0038	0.0097	0.052	0.52492	T	0.429	0.17217	T	0.023	0.25584	B	0.029	0.28327	B	0.073886	0.21317	N	0.395716	.	.	.	1.24	0.30952	L	1.06	0.82715	T	-1.84	0.59545	N	0.124	0.18512	-1.0564	0.12672	T	0.133	0.44661	T	9	0.0032327473	0.00055	T	.	.	.	0.033	0.08068	.	.	0.366092821824	0.36220	0.3893332817011348	0.38848	0.139746512027	0.15750	0.298681229353	0.10204	T	0.010347	0.16227	T	-0.41251	0.01913	T	-0.357357	0.38358	T	0.00171214513294426	0.00017	T	0.842416	0.51891	T	.	.	.	.	.	.	.	.	-4.492	0.30784	T	.	.	0.061	0.01143	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.025952	0.14055	10.63	0.74773530716296321	0.10821	0.50708	0.28725	D	AEFDGBHCI	0.156510	0.28188	N	-0.715540201429122	0.15585	0.7867031	-0.601513759295084	0.19453	1.043817	0.999999734906887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.95	1.56	0.22423	0.441000	0.21325	1.420000	0.26356	0.676000	0.76740	0.773000	0.29391	0.931000	0.28545	0.995000	0.73285	0.0:0.3053:0.1732:0.5215	7.512	0.26746	314	0.87270	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.008152	0.011696	0.000000	0.000000	0.012195	0.015152	0.1	3423.14	34	chr6	56640283	.	G	C	3423.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.752;DP=572;ExcessHet=0.2348;FS=1.971;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=2.04;SOR=0.819	GT:AD:DP:GQ:PL	0/1:91,66:157:99:1719,0,2450	8	0	2	0
chr6	57054547	57054547	A	G	exonic	KIAA1586	.	nonsynonymous SNV	KIAA1586:NM_001286274:exon3:c.A1967G:p.N656S,KIAA1586:NM_001286275:exon4:c.A1847G:p.N616S,KIAA1586:NM_001286276:exon4:c.A1847G:p.N616S,KIAA1586:NM_020931:exon4:c.A2048G:p.N683S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00170885153747	0.0006	0.000798722	0.0004	0.0029	0	0	0	0.0002	0	0	0.0002717	42	154602	rs144338352	0.0002	0.0002	0.0002	0.0001	0.0028	0.0001	0.0001	0.0023	0.0022	0.0028	9.306e-05	0	0	7.55e-05	0	0.0001	0.0002	0	0.0007	0.0007	0.0007	0.0008	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0001	0	0	0	0	0.0001	0.0009	0	0.189	0.23007	T	0.176	0.32783	T	0.15	0.27995	B	0.031	0.21939	B	.	.	.	.	0.999989	0.18198	N	0.805	0.20218	L	2.02	0.21119	T	-0.42	0.14193	N	0.238	0.26837	-0.9145	0.46285	T	0.006	0.02018	T	9	0.006220311	0.00140	T	0.001709	0.02856	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.029057282077579783	0.02854	0.0404704253703	0.04334	0.548369586468	0.45627	T	0.004807	0.04227	T	-0.651781	0.00071	T	-0.714563	0.05063	T	0.00775678893599986	0.00091	T	0.69513	0.30474	T	0.06255659	0.13080	0.04572523	0.06214	0.06255659	0.13080	0.04572523	0.06214	-4.71	0.33525	T	.	.	0.077	0.06525	B	.;.	.;.	1.189414	0.15807	12.12	0.90009445945413624	0.19299	0.27258	0.23226	N	AEFBCI	0.033064	0.03853	N	-0.87640289520408	0.11406	0.5502418	-0.805394098586892	0.14366	0.7502022	0.0771589742775995	0.15750	0.651	0.46895	0	0.708844	0.79440	0	0.54472	0.12158	0	0.635551	0.53088	0	.	.	3.35	0.877	0.18280	0.293000	0.18785	-0.438000	0.09178	0.756000	0.94297	0.640000	0.28085	0.000000	0.08366	0.990000	0.65344	0.7316:0.0:0.2684:0.0	5.025	0.13723	282	0.88846	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1167.43	34	chr6	57054547	.	A	G	1167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.086;DP=420;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.263;SOR=0.775	GT:AD:DP:GQ:PL	0/1:61,44:105:99:1179,0,1702	9	0	1	0
chr6	70234894	70234894	C	G	exonic	COL9A1	.	nonsynonymous SNV	COL9A1:NM_078485:exon28:c.G1430C:p.R477P,COL9A1:NM_001377289:exon29:c.G1460C:p.R487P,COL9A1:NM_001851:exon34:c.G2159C:p.R720P	Stickler syndrome, type IV	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.143473125126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.346	0.17696	T	0.999	0.77913	D	0.987	0.77487	D	0.000002	0.62929	D	0.060728	1	0.81001	D	-0.53	0.02533	N	-1.76	0.83578	D	-2.88	0.60507	D	0.659	0.67995	-0.2824	0.75475	T	0.345	0.71012	T	10	0.78262323	0.77981	D	0.143473	0.82579	D	0.561	0.82003	0.467	0.53891	0.912420511958	0.91153	0.6657395501328037	0.66510	0.491154891297	0.47813	0.670825362206	0.62956	T	0.504345	0.82347	D	0.157477	0.69966	D	-0.0115717	0.69583	D	0.981120765209198	0.73735	D	0.838016	0.51077	T	0.59302646	0.72315	0.6458173	0.79292	0.59302646	0.72316	0.6458173	0.79293	-3.567	0.17381	T	.	.	0.294	0.52500	B	.;.	.;.	4.196750	0.63292	24.6	0.99109464510274503	0.52674	0.99022	0.90087	D	AEFBI	0.975820	0.99640	D	0.205129814946803	0.51446	3.325891	0.288855276159954	0.54887	3.652603	0.996807278208412	0.35023	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.74	4.87	0.62877	7.822000	0.84804	4.001000	0.41074	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.9303:0.0:0.0697	14.648	0.68381	781	0.47532	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	160.43	45	chr6	70234894	.	C	G	160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.757;DP=396;ExcessHet=0;FS=48.411;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=-0.269;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,15:70:99:0|1:70234894_C_G:172,0,2082:70234894	9	0	1	0
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT,TTK:NM_003318:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1939.92	54	chr6	80007991	.	AGTTTTG	A	1939.92	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.161;DP=517;ExcessHet=1.5895;FS=207.722;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=2.12;SOR=8.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,26:67:99:0|1:80007990_G_A:705,0,1545:80007990	8	0	2	0
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	993.41	50	chr6	80007995	.	T	*	993.41	.	AC=2;AF=0.25;AN=8;BaseQRankSum=0.18;DP=356;ExcessHet=6.4098;FS=299.871;InbreedingCoeff=-0.2364;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=1.76;SOR=9.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,26:67:99:0|1:80007990_G_A:705,0,1545:80007990	2	0	2	6
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	354.9	53	chr6	80007996	.	T	*	354.9	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.758;DP=346;ExcessHet=0.4139;FS=110.827;InbreedingCoeff=0.038;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.79;ReadPosRankSum=2.43;SOR=7.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,26:67:99:0|1:80007990_G_A:705,0,1545:80007990	3	0	1	6
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT,TTK:NM_003318:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	696.78	51	chr6	80007997	.	G	GCCCCCA	696.78	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.425;DP=418;ExcessHet=0;FS=80.992;InbreedingCoeff=-0.0746;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=1.59;SOR=6.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,26:66:99:0|1:80007990_G_A:708,0,1511:80007990	9	0	1	0
chr6	85549775	85549775	G	C	exonic	SNX14	.	nonsynonymous SNV	SNX14:NM_001350536:exon6:c.C607G:p.L203V,SNX14:NM_001350537:exon6:c.C604G:p.L202V,SNX14:NM_001350542:exon6:c.C451G:p.L151V,SNX14:NM_001350543:exon6:c.C448G:p.L150V,SNX14:NM_020468:exon6:c.C607G:p.L203V,SNX14:NM_001350545:exon7:c.C295G:p.L99V,SNX14:NM_001350546:exon7:c.C295G:p.L99V,SNX14:NM_001297614:exon8:c.C739G:p.L247V,SNX14:NM_001304479:exon8:c.C583G:p.L195V,SNX14:NM_001350533:exon8:c.C736G:p.L246V,SNX14:NM_001350534:exon8:c.C736G:p.L246V,SNX14:NM_001350535:exon8:c.C736G:p.L246V,SNX14:NM_001350539:exon8:c.C580G:p.L194V,SNX14:NM_001350540:exon8:c.C739G:p.L247V,SNX14:NM_001350541:exon8:c.C739G:p.L247V,SNX14:NM_153816:exon8:c.C739G:p.L247V,SNX14:NM_001350532:exon9:c.C802G:p.L268V	Spinocerebellar ataxia, autosomal recessive 20, Autosomal recessive	443	1075	4	0	0	4	0.00185701	.	.	.	3536930	Autosomal_recessive_spinocerebellar_ataxia_20	MONDO:MONDO:0014601,MedGen:C5190595,OMIM:616354,Orphanet:397709	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.196	0.0272344632686	.	0.000399361	0.0003	0	0	0	0	1.5e-05	0	0.0020	0.0002329	36	154602	rs534391113	0.0002	0.0002	9.122e-05	0.0002	0.0025	0.0001	0.0001	0.0023	0.0021	0	2.237e-05	0	0	0	0.0007	4.497e-06	0.0001	0.0025	8.537e-05	8.531e-05	3.854e-05	0.0001	0.0021	4.954e-05	3.96e-05	0.0011	0.0009	0	0	0	0	0	0	0.0034	1.47e-05	0.0005	0.0021	0.036	0.44694	D	0.086	0.40909	T	0.772	0.43974	P	0.465	0.46596	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.59	0.40313	L	1.68	0.38397	T	-1.18	0.30140	N	0.703	0.74735	-1.0920	0.05207	T	0.070	0.28609	T	10	0.028526306	0.00984	T	0.027234	0.50072	D	0.196	0.47777	0.728	0.86198	0.338110398507	0.33423	0.6141197638774364	0.61343	0.593719886852	0.54706	0.795635402203	0.81299	T	0.048796	0.28122	T	-0.21935	0.18080	T	-0.0943339	0.63833	T	0.168364907589467	0.18469	T	0.887811	0.62289	D	0.43176907	0.62868	0.3576441	0.61255	0.43176907	0.62868	0.3576441	0.61254	-4.612	0.36546	T	0.2615947892905255	0.35314	0.102	0.18037	B	.;.;.;.;.;.	.;.;.;.;.;.	3.740271	0.53550	23.4	0.99624691297480117	0.75655	0.98495	0.83383	D	AEFBI	0.890295	0.82520	D	0.231993751953326	0.52755	3.447769	0.384887557818041	0.60631	4.253027	0.999998545128348	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.35	5.35	0.76297	7.645000	0.82580	11.790000	0.96346	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.130	0.93385	734	0.53889	.;Phox-associated domain|Phox-associated domain|Phox-associated domain;Phox-associated domain|Phox-associated domain|Phox-associated domain;.;.;Phox-associated domain|Phox-associated domain|Phox-associated 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	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05	685.43	34	chr6	85549775	.	G	C	685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.023;DP=374;ExcessHet=0;FS=2.059;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.759;SOR=0.584	GT:AD:DP:GQ:PL	0/1:36,29:65:99:697,0,924	9	0	1	0
chr6	110456862	110456862	C	T	exonic	SLC22A16	.	nonsynonymous SNV	SLC22A16:NM_033125:exon2:c.G209A:p.S70N	.	427	1075	20	0	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00876804708803	0.0005	0.000798722	0.0009	9.617e-05	0.0004	0	0	0.0006	0.0044	0.0037	0.0007956	123	154602	rs145653089	0.0006	0.0006	0.0005	0.0007	0.0069	0.0006	0.0005	0.0052	0.0046	8.961e-05	0.0001	0	0	0	0.0069	0.0004	0.0008	0.0038	0.0005	0.0005	0.0003	0.0006	0.0035	0.0004	0.0003	0.0022	0.0018	2.406e-05	0	0.0002	0	0	0	0.0034	0.0007	0.0009	0.0035	0.072	0.39575	T	0.077	0.42436	T	0.454	0.36182	P	0.071	0.27960	B	0.001541	0.00798	N	5.930950	1	0.08975	N	0.605	0.15622	N	1.17	0.65192	T	-0.17	0.10833	N	0.078	0.05287	-1.0711	0.09173	T	0.062	0.25923	T	10	0.006997794	0.00159	T	0.008768	0.23147	T	0.044	0.11924	.	.	0.115124310173	0.11017	0.4664323185467218	0.46562	0.015149267968	0.01440	0.209350436926	0.00784	T	0.018852	0.15125	T	-0.607257	0.00132	T	-0.647481	0.09132	T	0.0200073487743766	0.00701	T	0.327067	0.07184	T	0.047845952	0.08244	0.06910523	0.14518	0.047845952	0.08244	0.06910523	0.14517	-6.36	0.49196	T	.	.	0.083	0.09191	B	.;.;.	.;.;.	-0.136266	0.03432	0.628	0.90622664412279952	0.19876	0.09044	0.14877	N	AEFDGBIJ	0.101387	0.20365	N	-0.968869463499155	0.09273	0.4382266	-1.1222374894137	0.07277	0.3533342	0.979797763919298	0.30066	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	-5.05	0.02733	-0.041000	0.12036	-1.420000	0.05482	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2061:0.3793:0.0:0.4146	5.523	0.16230	493	0.76500	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.005435	0.002924	0.000000	0.000000	0.000000	0.007576	0.1	4238.14	137	chr6	110456862	.	C	T	4238.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.61;DP=965;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.095;SOR=0.707	GT:AD:DP:GQ:PL	0/1:121,78:199:99:2076,0,3377	8	0	2	0
chr6	111580262	111580262	G	T	exonic	TRAF3IP2	.	nonsynonymous SNV	TRAF3IP2:NM_001164281:exon3:c.C957A:p.S319R,TRAF3IP2:NM_147686:exon3:c.C957A:p.S319R,TRAF3IP2:NM_147200:exon4:c.C984A:p.S328R	.	424	1080	16	2	0	20	0.00917431	.	.	.	521681	Candidiasis,_familial,_8|TRAF3IP2-related_disorder	MONDO:MONDO:0014230,MedGen:C3714992,OMIM:615527,Orphanet:1334|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.112	0.0105387821715	0.0011	0.000599042	0.0018	0	0.0006	0	0.0002	0.0022	0.0033	0.0038	0.0016171	250	154602	rs146226365	0.0013	0.0013	0.0012	0.0014	0.0087	0.0013	0.0012	0.0068	0.0061	5.982e-05	0.0004	0.0169	0	0.0002	0.0087	0.0008	0.0023	0.0041	0.0012	0.0012	0.0012	0.0012	0.0052	0.0010	0.0010	0.0036	0.0031	9.62e-05	0	0.0005	0.0161	0	0	0	0.0011	0.0043	0.0052	0.01	0.56456	D	0.044	0.50226	D	0.937	0.52445	P	0.529	0.48508	P	0.000322	0.45700	D	0.156174	1	0.81001	D	2.395	0.69210	M	1.2	0.37746	T	-1.28	0.32185	N	0.266	0.30687	-1.1119	0.02912	T	0.058	0.24317	T	10	0.007829368	0.00178	T	0.010539	0.27195	T	0.112	0.31546	0.369	0.37850	0.562580035486	0.55921	0.383433040672227	0.38258	0.248281453922	0.27391	0.36838644743	0.20599	T	0.144915	0.48178	T	-0.374221	0.03386	T	-0.312109	0.43432	T	0.0511625810549959	0.05703	T	0.618838	0.23746	T	0.06632413	0.14260	0.0971476	0.23110	0.09406443	0.22106	0.09396534	0.22219	-3.425	0.16487	T	0.2385391721129201	0.32307	0.247	0.53747	B	.;.;.;.	.;.;.;.	2.820424	0.37150	20.4	0.99794009709139653	0.87928	0.76255	0.37385	D	AEFDBI	0.194552	0.32162	N	0.138979454985184	0.48291	3.043194	0.135237814780427	0.46365	2.883631	0.999994259232576	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.99	1.77	0.23848	0.252000	0.18046	0.085000	0.14440	0.676000	0.76740	0.994000	0.38300	0.071000	0.22219	0.991000	0.66497	0.3261:0.0:0.6739:0.0	9.803	0.39945	386	0.83455	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004532	0.000000	0.004076	0.002924	0.000000	0.000000	0.009146	0.003788	0.1	2910.14	92	chr6	111580262	.	G	T	2910.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.94;DP=904;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=1.47;SOR=0.662	GT:AD:DP:GQ:PL	0/1:78,67:145:99:1627,0,2197	8	0	2	0
chr6	146434399	146434399	G	C	exonic	GRM1	.	nonsynonymous SNV	GRM1:NM_001278064:exon8:c.G3188C:p.R1063P	Spinocerebellar ataxia, autosomal recessive 13, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2099446	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.397	0.0538102829395	.	0.000399361	0.0002	0	0	0.0027	0	0	0	0.0001	0.0002005	31	154602	rs200986171	8.35e-05	8.345e-05	8.717e-05	7.98e-05	0.0025	7.14e-05	6.688e-05	0.0021	0.0020	0	0	0	0.0025	0	0	1.079e-05	0	0.0001	5.909e-05	5.905e-05	5.139e-05	6.714e-05	0.0017	3.075e-05	2.208e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	0	0	0	0.283	0.15354	T	0.273	0.22154	T	0.001	0.07471	B	0.002	0.06944	B	0.008191	0.30970	N	0.227411	0.999893	0.31196	N	0.805	0.20218	L	-2.26	0.87352	D	-0.24	0.10833	N	0.13	0.12484	-0.5423	0.67077	T	0.374	0.73272	T	10	0.009864181	0.00221	T	0.05381	0.65616	D	0.397	0.71163	0.263	0.20788	0.86480216162	0.86348	0.578332343150052	0.57762	0.995063717223	0.74193	0.431662797928	0.29436	T	0.107504	0.41976	T	-0.251614	0.13901	T	-0.139129	0.60193	T	0.0568596915934417	0.06666	T	0.684232	0.29249	T	0.3190606	0.54560	0.37323287	0.62515	0.3190606	0.54560	0.37323287	0.62514	-2.134	0.03732	T	.	.	0.097	0.15921	B	.;.	.;.	3.197038	0.43459	21.7	0.95749365604670578	0.27721	0.90925	0.52522	D	AEFDBI	0.625427	0.60863	D	-0.0914099848455983	0.37769	2.202155	0.0798678140785294	0.43537	2.653435	0.9998288627723	0.43622	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.48	5.48	0.80675	3.800000	0.55241	9.619000	0.81102	0.590000	0.31872	0.992000	0.37556	1.000000	0.68203	0.949000	0.49496	0.074:0.0:0.926:0.0	13.689	0.62014	381	0.83684	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05	1520.43	81	chr6	146434399	.	G	C	1520.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-1.089;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,56:96:99:0|1:146434379_T_G:1532,0,831:146434379	9	0	1	0
chr6	150389354	150389354	G	A	exonic	IYD	.	startloss	IYD:NM_001164694:exon2:c.G181A:p.A61T,IYD:NM_001164695:exon2:c.G181A:p.A61T,IYD:NM_001318495:exon2:c.G3A:p.M1?,IYD:NM_203395:exon2:c.G181A:p.A61T	Thyroid dyshormonogenesis 4, Autosomal recessive	3	1479	38	2	0	42	0.014	.	.	.	721796	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.136	.	0.0012	0.00159744	0.0029	0.0002	0.0005	0.0002	0.0035	0.0016	0.0078	0.0122	0.0025161	389	154602	rs144193430	0.0021	0.0021	0.0017	0.0024	0.0127	0.0020	0.0020	0.0120	0.0118	0.0002	0.0007	0.0049	5.042e-05	0.0034	0.0085	0.0012	0.0025	0.0127	0.0018	0.0018	0.0014	0.0021	0.0158	0.0016	0.0015	0.0129	0.0119	0.0002	0	0.0014	0.0046	0.0004	0.0020	0.0137	0.0016	0.0028	0.0158	0.579	0.06049	T	0.584	0.08565	T	0.001	0.09854	B	0.001	0.06944	B	0.721854	0.09928	N	0.886530	0.997163	0.27117	N	1.59	0.40313	L	-2.13	0.86349	D	-0.02	0.07299	N	0.186	0.20395	-0.7583	0.57498	T	0.327	0.69538	T	10	0.0052779317	0.00139	T	.	.	.	0.136	0.36778	.	.	0.884877235316	0.88374	0.23092399812901218	0.23007	0.0592055756265	0.06579	0.238015964627	0.02614	T	0.022231	0.17174	T	-0.480227	0.00737	T	-0.451558	0.27525	T	0.0129155964144352	0.00222	T	0.520648	0.43505	T	0.040515486	0.05797	0.053523004	0.09033	0.040266983	0.05716	0.05825627	0.10733	-3.433	0.17125	T	.	.	0.070	0.05668	B	.;.;.;.;.;.	.;.;.;.;.;.	2.071575	0.26345	17.08	0.97923179626212065	0.36900	0.90815	0.52313	D	AEFBI	0.415524	0.48435	N	-0.237494783975278	0.31607	1.773902	-0.0906866889505324	0.35774	2.073705	0.00127860248535379	0.08400	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.4	4.53	0.55009	2.713000	0.46862	2.504000	0.33042	-0.106000	0.15538	0.997000	0.40164	0.535000	0.25384	0.942000	0.48361	0.1459:0.0:0.8541:0.0	10.780	0.45569	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	0	0	1	0	0.005035	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.015152	0.05	402.43	33	chr6	150389354	.	G	A	402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.403;DP=338;ExcessHet=0;FS=1.342;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.937;SOR=0.399	GT:AD:DP:GQ:PL	0/1:20,18:38:99:414,0,537	9	0	1	0
chr6	151351264	151351264	G	T	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_001370346:exon2:c.G2558T:p.R853I,AKAP12:NM_144497:exon2:c.G2579T:p.R860I,AKAP12:NM_005100:exon4:c.G2873T:p.R958I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0099620581271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.52492	D	0.106	0.37872	T	0.196	0.32457	B	0.036	0.28749	B	0.377456	0.04399	N	1.454200	1	0.08975	N	1.15	0.29295	L	3.16	0.07711	T	-3.09	0.63438	D	0.124	0.14054	-0.9263	0.44673	T	0.005	0.01578	T	10	0.076340884	0.11912	T	0.009962	0.25923	T	0.014	0.01968	0.207	0.12356	0.28492961333	0.28089	0.13486757621778703	0.13410	0.46476200693	0.45935	0.174578428268	0.00054	T	0.272215	0.64459	T	-0.290656	0.09570	T	-0.655283	0.08587	T	0.199819579720497	0.20406	T	0.835216	0.50504	T	0.09325174	0.21896	0.08079742	0.18306	0.09325174	0.21896	0.08079742	0.18306	-3.513	0.16614	T	.	.	0.137	0.32226	B	.;.;.;.	.;.;.;.	1.219109	0.16129	12.34	0.9562673292356928	0.27403	0.09480	0.15226	N	AEFDBCI	0.048784	0.08360	N	-0.913624971222943	0.10523	0.5032529	-0.963857872835306	0.10603	0.535073	0.998375421432123	0.36850	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.06	0.21	0.14507	1.358000	0.33706	-0.059000	0.12448	0.676000	0.76740	0.818000	0.29961	0.000000	0.08366	0.184000	0.21420	0.52:0.1565:0.19:0.1335	1.524	0.02369	928	0.17405	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1806.43	82	chr6	151351264	.	G	T	1806.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.716;DP=789;ExcessHet=0;FS=0.658;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.137;SOR=0.619	GT:AD:DP:GQ:PL	0/1:59,67:126:99:1818,0,1624	9	0	1	0
chr6	157206687	157206687	C	T	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001363725:exon18:c.C3416T:p.P1139L,ARID1B:NM_017519:exon19:c.C5756T:p.P1919L,ARID1B:NM_001374820:exon20:c.C5795T:p.P1932L,ARID1B:NM_001374828:exon20:c.C5915T:p.P1972L,ARID1B:NM_001371656:exon21:c.C5795T:p.P1932L	Coffin-Siris syndrome 1, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	2731715	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.00605641085404	.	.	.	.	.	.	.	.	.	.	.	.	.	rs202194222	3.218e-05	3.215e-05	2.725e-05	3.715e-05	0.0002	2.48e-05	2.222e-05	2.743e-05	2.469e-05	0	0	0	0	0	0.0002	3.687e-05	4.968e-05	2.319e-05	2.632e-05	2.627e-05	2.572e-05	2.694e-05	4.835e-05	8.15e-06	5.15e-06	8.01e-06	3e-06	4.835e-05	0	0	0	0	0	0	2.942e-05	0	0	0.054	0.38633	T	0.039	0.51112	D	0.0	0.07471	B	0.0	0.04355	B	0.529902	0.05251	N	1.232210	0.999991	0.08975	N	1.91	0.51138	L	4.72	0.02234	T	-2.81	0.59389	D	0.245	0.27673	-0.9050	0.47447	T	0.004	0.01295	T	10	0.095736414	0.17121	T	0.006056	0.15816	T	0.086	0.25016	0.198	0.11110	0.226560886239	0.22246	0.20708431313095954	0.20624	0.718446339905	0.62092	0.332462519407	0.15306	T	0.208842	0.56888	T	-0.260726	0.12814	T	-0.596806	0.13081	T	0.126757134591406	0.15079	T	0.916008	0.72410	D	0.055648275	0.10844	0.078298636	0.17526	0.055648275	0.10843	0.078298636	0.17525	-4.678	0.33137	T	0.0928368908269276	0.06043	0.076	0.06114	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.369155	0.30397	18.42	0.70290555709377378	0.09248	0.48111	0.28133	N	AEFBI	0.124767	0.24097	N	-0.63334334423356	0.17949	0.9279807	-0.626145027005819	0.18821	1.007196	0.943058962526068	0.27551	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.43	3.56	0.39892	3.487000	0.52986	3.271000	0.37160	0.549000	0.26987	0.060000	0.21767	0.229000	0.23770	0.107000	0.18608	0.0:0.9174:0.0:0.0826	12.461	0.55070	939	0.14249	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1862.43	35	chr6	157206687	.	C	T	1862.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.78;DP=469;ExcessHet=0;FS=0.599;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-1.58;SOR=0.663	GT:AD:DP:GQ:PL	0/1:91,65:156:99:1874,0,2370	9	0	1	0
chr6	158502088	158502088	C	A	exonic	TULP4	.	nonsynonymous SNV	TULP4:NM_020245:exon13:c.C2425A:p.P809T	.	428	1077	17	0	0	17	0.00783049	.	.	.	2828087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0031	0.00219649	0.0044	0.0014	0.0073	0	0.0051	0.0053	0.0104	0.0018	0.0040556	627	154602	rs138229082	0.0038	0.0038	0.0038	0.0038	0.0176	0.0037	0.0037	0.0148	0.0138	0.0009	0.0067	0.0293	0	0.0033	0.0176	0.0033	0.0058	0.0021	0.0040	0.0040	0.0039	0.0041	0.0071	0.0037	0.0036	0.0060	0.0056	0.0011	0	0.0071	0.0308	0	0.0045	0.0170	0.0039	0.0081	0.0023	0.003	0.68238	D	0.44	0.13328	T	0.181	0.29111	B	0.036	0.22909	B	0.004485	0.33689	N	0.310630	0.912691	0.81001	D	1.385	0.34509	L	0.07	0.61677	T	-1.08	0.28084	N	0.276	0.31253	-0.9218	0.45307	T	0.107	0.38906	T	10	0.0054033697	0.00119	T	.	.	.	0.103	0.29403	.	.	0.2338531098	0.23012	0.29534259758561265	0.29447	0.297816076613	0.32164	0.432674109936	0.29574	T	0.013919	0.11944	T	-0.351081	0.04659	T	-0.273773	0.47438	T	0.0181717825363782	0.00538	T	0.809419	0.45992	T	0.06854221	0.14940	0.072205424	0.15551	0.06854221	0.14940	0.072205424	0.15551	-3.966	0.23293	T	.	.	0.069	0.03060	B	.	.	1.888443	0.23987	16.23	0.99012691597313629	0.50399	0.88900	0.49056	D	AEFDBI	0.134470	0.25449	N	-0.392150280991895	0.25748	1.400027	-0.381894009516354	0.25537	1.404971	0.999982869013616	0.51787	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.39	4.52	0.54797	2.715000	0.46879	1.927000	0.29747	0.599000	0.40250	0.679000	0.28429	0.562000	0.25526	0.223000	0.22544	0.0:0.8653:0.1347:0.0	16.050	0.80559	698	0.58074	.	.	.	.	.	.	Likely benign	0	0	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	0.014602	0.000000	0.019022	0.032164	0.000000	0.008621	0.009146	0.003788	0.05	1368.43	36	chr6	158502088	.	C	A	1368.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.132;DP=470;ExcessHet=0;FS=1.409;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.78;SOR=0.826	GT:AD:DP:GQ:PL	0/1:82,61:143:99:1380,0,2021	9	0	1	0
chr6	160718377	160718377	G	A	exonic	PLG	.	nonsynonymous SNV	PLG:NM_000301:exon8:c.G871A:p.V291M	Dysplasminogenemia, Autosomal recessive;Plasminogen deficiency, type I, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	3070551	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.146	0.0358998332747	.	0.000798722	0.0005	0	0	0	0	1.498e-05	0.0011	0.0036	0.0004269	66	154602	rs564003153	0.0002	0.0002	8.853e-05	0.0003	0.0028	0.0002	0.0001	0.0025	0.0024	2.989e-05	0	0	0	0	0	1.8e-06	0.0002	0.0028	0.0001	0.0001	7.708e-05	0.0002	0.0044	9.736e-05	8.252e-05	0.0029	0.0025	2.405e-05	0	0	0	0	0	0	0	0	0.0044	0.089	0.32141	T	0.102	0.38450	T	0.746	0.43152	P	0.303	0.41149	B	0.107683	0.02608	U	2.945190	1	0.08975	N	2.075	0.57047	M	-0.25	0.67011	T	-1.18	0.30140	N	0.126	0.11912	-0.9780	0.35458	T	0.126	0.43153	T	10	0.013486147	0.00286	T	0.036	0.56644	D	0.146	0.38789	0.441	0.49648	0.651489787803	0.64859	0.461620484997656	0.46080	0.345189148028	0.36432	0.344311714172	0.17081	T	0.126154	0.45234	T	-0.454626	0.01060	T	-0.427921	0.30171	T	0.0375665192707762	0.03255	T	0.69823	0.30825	T	0.08532787	0.19789	0.06240368	0.12205	0.09237349	0.21669	0.06754676	0.13987	-6.06	0.46778	T	0.0972378988517276	0.06817	0.107	0.20038	B	.	.	1.177527	0.15679	12.02	0.97589439127948052	0.34780	0.10514	0.16000	N	AEFDBI	0.650468	0.62456	D	-0.523225502952805	0.21330	1.131215	-0.702740861991772	0.16893	0.8957479	0.00231192580526019	0.09317	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	-1.23	0.08977	2.420000	0.44334	-0.591000	0.08322	0.671000	0.69459	0.059000	0.21734	0.000000	0.08366	0.027000	0.12703	0.2966:0.2265:0.4769:0.0	6.137	0.19459	856	0.34373	Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05	2422.43	35	chr6	160718377	.	G	A	2422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=542;ExcessHet=0;FS=3.63;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=1.73;SOR=0.922	GT:AD:DP:GQ:PL	0/1:129,107:236:99:2434,0,2873	9	0	1	0
chr6	167340931	167340931	A	C	exonic	TTLL2	.	nonsynonymous SNV	TTLL2:NM_031949:exon3:c.A1031C:p.K344T	.	432	1069	19	2	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00154577874248	0.0005	0.000998403	0.0013	9.61e-05	0.0002	0	0	0.0004	0.0022	0.0078	0.0010543	163	154602	rs146295287	0.0007	0.0007	0.0005	0.0010	0.0082	0.0007	0.0007	0.0077	0.0075	0	0.0001	0	2.519e-05	0	0.0076	0.0002	0.0010	0.0082	0.0004	0.0004	0.0003	0.0005	0.0060	0.0003	0.0003	0.0043	0.0037	4.817e-05	0	0.0002	0	0	0	0	0.0004	0	0.0060	0.007	0.59928	D	0.009	0.66756	D	1.0	0.90584	D	0.985	0.76457	D	0.002034	0.37411	N	0.159801	0.987245	0.24536	N	2.43	0.70455	M	3.38	0.05778	T	-4.11	0.74980	D	0.397	0.43803	-1.1011	0.03961	T	0.025	0.10643	T	10	0.010228634	0.00228	T	0.001546	0.02420	T	0.072	0.21020	.	.	0.262662153117	0.25859	0.6282461185719669	0.62757	0.565748960011	0.52901	0.371026456356	0.20979	T	0.01456	0.12376	T	-0.475804	0.00783	T	-0.45153	0.27528	T	0.0616771880338444	0.07429	T	0.714629	0.32694	T	0.3679429	0.58432	0.31032136	0.57043	0.3679429	0.58432	0.31032136	0.57043	-6.996	0.54005	T	.	.	0.220	0.45074	B	.;.	.;.	2.550494	0.33007	19.21	0.99630248474974281	0.76020	0.32261	0.24541	N	AEFBHCI	0.145505	0.26872	N	0.044515280591658	0.43891	2.673259	-0.167817901167994	0.32728	1.865	0.947404356873519	0.27751	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.75	1.37	0.21200	0.779000	0.26407	1.966000	0.29963	0.587000	0.30956	0.923000	0.32050	0.003000	0.18671	0.692000	0.33898	0.8004:0.0:0.1996:0.0	7.627	0.27383	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	0.008056	0.000000	0.008152	0.008772	0.000000	0.017241	0.012195	0.007576	0.05	3944.43	36	chr6	167340931	.	A	C	3944.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.901;DP=790;ExcessHet=0;FS=0.95;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.967;SOR=0.75	GT:AD:DP:GQ:PL	0/1:119,141:260:99:3956,0,3202	9	0	1	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	14892.7	98	chr6	170561964	.	G	*	14892.7	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.521;DP=1587;ExcessHet=1.5895;FS=1.983;InbreedingCoeff=-0.25;MLEAC=5;MLEAF=0.25;MQ=59.98;MQRankSum=0;QD=17.24;ReadPosRankSum=3.16;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,9:60:99:1|0:170561949_GCAA_G:4056,1987,1766:170561949	5	0	5	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	641.49	22	chr7	290725	.	C	G	641.49	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.31;DP=256;ExcessHet=5.3821;FS=276.35;InbreedingCoeff=-0.5144;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=0.583;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,14:33:99:.:.:140,0,218:.	3	0	6	1
chr7	1540055	1540055	C	T	exonic	MAFK	.	nonsynonymous SNV	MAFK:NM_002360:exon3:c.C151T:p.R51C	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.688	0.675717551094	.	.	4.537e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs757019787	5.687e-06	6.84e-06	4.213e-06	7.197e-06	6.257e-05	2.45e-06	1.77e-06	2.428e-05	1.527e-05	0	0	3.963e-05	0	0	0	1.846e-06	0	6.257e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.969	0.72001	D	0.000001	0.62929	D	0.057324	1	0.81001	D	2.785	0.81254	M	-3.05	0.92407	D	-7.21	0.94249	D	0.58	0.60156	0.955	0.96471	D	0.877	0.95925	D	10	0.8949505	0.88846	D	0.675718	0.97304	D	0.688	0.88632	0.652	0.78963	0.793101889391	0.79117	0.8095505869724416	0.80910	2.21285842673	0.95790	0.887241303921	0.94912	D	0.82906	0.95899	D	0.267371	0.80205	D	0.146284	0.79950	D	0.989275813102722	0.79520	D	0.983802	0.94506	D	0.75710946	0.81283	0.6566022	0.79892	0.75710946	0.81285	0.6566022	0.79893	-12.906	0.88972	D	.	.	0.166	0.36633	B	.;.	.;.	5.497103	0.91543	32	0.99903508199495705	0.97502	0.93943	0.59643	D	AEFGBCI	0.615223	0.60224	D	0.610057817364783	0.73810	6.027376	0.530174281800252	0.70030	5.445625	0.999999999999372	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.09	5.09	0.68647	3.094000	0.49919	5.852000	0.50347	0.594000	0.32500	0.993000	0.37899	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.540	0.90977	769	0.49307	Basic leucine zipper domain, Maf-type|Basic-leucine zipper domain|Basic-leucine zipper domain;Basic leucine zipper domain, Maf-type|Basic-leucine zipper domain|Basic-leucine zipper 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	.	.	.	.	.	.	.	.	0.05	1620.43	34	chr7	1540055	.	C	T	1620.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=446;ExcessHet=0;FS=2.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=1.12;SOR=0.513	GT:AD:DP:GQ:PL	0/1:67,64:131:99:1632,0,1514	9	0	1	0
chr7	6023468	6023468	G	A	exonic	AIMP2	.	nonsynonymous SNV	AIMP2:NM_001326607:exon3:c.G533A:p.G178E,AIMP2:NM_001326606:exon4:c.G620A:p.G207E,AIMP2:NM_001362787:exon4:c.G608A:p.G203E,AIMP2:NM_006303:exon4:c.G740A:p.G247E,AIMP2:NM_001326609:exon5:c.G506A:p.G169E,AIMP2:NM_001326610:exon5:c.G506A:p.G169E,AIMP2:NM_001326611:exon5:c.G506A:p.G169E,AIMP2:NM_001362785:exon5:c.G653A:p.G218E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0717958929603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.29029	T	0.036	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.11	0.87757	M	1.1	0.39050	T	-2.78	0.71882	D	0.822	0.84922	-0.5712	0.65967	T	0.298	0.66961	T	10	0.7007803	0.72430	D	0.071796	0.71363	D	0.340	0.66202	0.325	0.30711	0.458917189328	0.45515	0.7573787474875092	0.75685	0.266417766993	0.29183	0.580837726593	0.50204	T	0.266036	0.63795	T	0.146027	0.68895	D	-0.0280192	0.68500	D	0.975895202453333	0.71137	D	0.944206	0.79612	D	0.54590416	0.69727	0.5020818	0.71216	0.54590416	0.69728	0.5020818	0.71217	-7.332	0.60558	T	.	.	0.886	0.84325	P	.;.;.	.;.;.	5.065952	0.84460	28.3	0.99821175498288872	0.90414	0.97918	0.78116	D	AEFBCI	0.954013	0.97078	D	0.852883100456022	0.89274	9.904087	0.828642779842199	0.91708	11.02659	0.999999999999998	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	8.002000	0.88029	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.656	0.95838	774	0.48577	Glutathione S-transferase, C-terminal;Glutathione S-transferase, C-terminal;Glutathione S-transferase, 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	.	.	.	.	.	.	.	.	0.05	2576.43	38	chr7	6023468	.	G	A	2576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.837;DP=561;ExcessHet=0;FS=1.121;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.066;SOR=0.608	GT:AD:DP:GQ:PL	0/1:89,102:191:99:2588,0,2361	9	0	1	0
chr7	6436530	6436530	G	C	exonic	DAGLB	.	nonsynonymous SNV	DAGLB:NM_001142936:exon3:c.C251G:p.T84R,DAGLB:NM_139179:exon3:c.C251G:p.T84R	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500	0.0236920601974	0.0032	0.00179712	0.0030	0.0008	0.0007	0	0.0014	0.0049	0	0.0005	0.0030077	465	154602	rs145491977	0.0034	0.0034	0.0034	0.0033	0.0163	0.0033	0.0033	0.0136	0.0126	0.0005	0.0006	0.0022	0	0.0013	0.0163	0.0040	0.0031	0.0006	0.0026	0.0026	0.0027	0.0025	0.0041	0.0024	0.0023	0.0037	0.0035	0.0009	0.0493	0.0007	0.0032	0	0.0008	0.0034	0.0041	0.0009	0.0006	0.022	0.72154	D	0.01	0.66756	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	0.79	0.52416	T	-3.32	0.71157	D	0.956	0.96531	-0.6597	0.62289	T	0.243	0.61142	T	10	0.011266977	0.00247	T	0.023692	0.46661	T	0.500	0.78350	.	.	0.867394527577	0.86610	0.9660552676231164	0.96592	0.34962926553	0.36813	0.492384314537	0.37769	T	0.420072	0.77190	T	-0.00947136	0.50340	T	0.215953	0.83971	D	0.0274884541327266	0.01615	T	0.927307	0.78138	D	0.6395499	0.74807	0.5498058	0.73971	0.6395499	0.74808	0.5498058	0.73972	-10.57	0.77608	D	.	.	0.572	0.67715	P	.;.;.;.	.;.;.;.	4.838051	0.78954	27.0	0.99380651754095695	0.61847	0.97281	0.73769	D	ALL	0.868857	0.78915	D	0.887566669408333	0.91138	10.73374	0.88397843770689	0.94834	13.08292	0.999999999999999	0.74766	0.736574	0.97449	0	0.623108	0.53289	0	0.732669	0.93749	0	0.662433	0.64102	0	.	.	5.87	5.87	0.94266	9.004000	0.93118	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.0:1.0:0.0	20.583	0.99411	749	0.51929	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012097	0.005051	0.006793	0.032164	0.000000	0.051724	0.006135	0.000000	0.05	1193.43	35	chr7	6436530	.	G	C	1193.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=408;ExcessHet=0;FS=2.994;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=1.03;SOR=1.112	GT:AD:DP:GQ:PL	0/1:37,46:83:99:1205,0,836	9	0	1	0
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C,VWDE:NM_001346972:exon5:c.C632G:p.S211C,VWDE:NM_001346973:exon5:c.C167G:p.S56C	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0002	0.00299521	0.0071	0.0004	0.0024	0	0.0012	0.0005	0	0.0191	0.0012484	193	154602	rs201430222	0.0014	0.0013	0.0008	0.0019	0.0163	0.0013	0.0013	0.0155	0.0152	6.33e-05	0.0004	0.0004	2.798e-05	0.0002	0.0102	0.0004	0.0017	0.0163	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0120	0.0110	4.812e-05	0	0.0007	0.0006	0	0.0003	0.0136	0.0007	0.0019	0.0147	0.019	0.50132	D	0.015	0.61642	D	0.761	0.43566	P	0.338	0.42306	B	.	.	.	.	0.965048	0.25955	N	1.495	0.37439	L	-1.67	0.82806	D	-2.2	0.49519	N	0.162	0.17002	-0.4008	0.72001	T	0.416	0.76279	T	9	0.008293569	0.00188	T	.	.	.	0.317	0.63904	.	.	0.343334270461	0.33943	0.20029899394606046	0.19946	.	.	0.376162022352	0.21712	T	0.039527	0.25219	T	-0.420008	0.01710	T	-0.361152	0.37918	T	0.024809887274748	0.01248	T	0.578142	0.20837	T	0.16607872	0.36921	0.15976596	0.37245	0.16607872	0.36920	0.15976596	0.37244	-11.404	0.81827	D	.	.	0.167	0.36712	B	.	.	3.624016	0.51305	23.1	0.98969845649481181	0.49501	0.95695	0.65763	D	AEFBI	0.631091	0.61219	D	0.196351805118652	0.51024	3.287046	0.249341905279831	0.52612	3.434912	0.999978700190465	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	2.332000	0.43561	5.528000	0.48839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:0.843:0.157	13.417	0.60423	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003589	0.000000	0.000000	0.013043	0.000000	0.000000	0.005618	0.012195	0.15	4567.45	134	chr7	12380643	.	G	C	4567.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.117;DP=621;ExcessHet=0.7463;FS=0.832;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.312;SOR=0.628	GT:AD:DP:GQ:PL	0/1:67,60:127:99:1616,0,1789	7	0	3	0
chr7	14176894	14176894	C	T	exonic	DGKB	.	nonsynonymous SNV	DGKB:NM_001350720:exon23:c.G2195A:p.S732N,DGKB:NM_001350721:exon23:c.G2195A:p.S732N,DGKB:NM_001350711:exon24:c.G2228A:p.S743N,DGKB:NM_001350712:exon24:c.G2228A:p.S743N,DGKB:NM_001350714:exon24:c.G2228A:p.S743N,DGKB:NM_001350715:exon24:c.G2231A:p.S744N,DGKB:NM_001350716:exon24:c.G2231A:p.S744N,DGKB:NM_001350717:exon24:c.G2216A:p.S739N,DGKB:NM_001350718:exon24:c.G2216A:p.S739N,DGKB:NM_001350719:exon24:c.G2216A:p.S739N,DGKB:NM_001350724:exon24:c.G2102A:p.S701N,DGKB:NM_145695:exon24:c.G2252A:p.S751N,DGKB:NM_001350705:exon25:c.G2252A:p.S751N,DGKB:NM_001350706:exon25:c.G2252A:p.S751N,DGKB:NM_001350707:exon25:c.G2249A:p.S750N,DGKB:NM_001350708:exon25:c.G2249A:p.S750N,DGKB:NM_001350709:exon25:c.G2249A:p.S750N,DGKB:NM_001350722:exon25:c.G2126A:p.S709N,DGKB:NM_001350723:exon25:c.G2126A:p.S709N	.	427	1091	4	0	0	4	0.00182983	.	.	.	2228177	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0107872827238	8.3e-05	.	0.0003	0.0002	0.0004	0	0	0.0004	0	0.0002	0.0002523	39	154602	rs200168973	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0013	0.0001	0.0007	0	0	0	0.0026	0.0002	0.0007	5.797e-05	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0007	0.0006	0.0002	0	0.0011	0	0	0	0	0.0002	0.0005	0	0.784	0.03869	T	0.441	0.13953	T	0.064	0.23455	B	0.025	0.20508	B	0.000000	0.84330	D	0.000000	0.69885	0.33401	D	0.595	0.15482	N	1.55	0.29866	T	0.13	0.05503	N	0.313	0.35408	-1.0576	0.12362	T	0.052	0.22114	T	10	0.048818737	0.04384	T	0.010787	0.27726	T	0.093	0.26882	.	.	0.143184338766	0.13958	0.4300506914532801	0.42922	0.296725836107	0.32059	0.774476289749	0.78095	T	0.037235	0.24401	T	-0.537907	0.00345	T	-0.64285	0.09463	T	0.0175834775210208	0.00492	T	0.760924	0.42665	T	0.23536046	0.46371	0.2400363	0.49368	0.23536046	0.46371	0.2400363	0.49367	-4.428	0.30001	T	.	.	0.110	0.31431	B	.;.;.;.;.	.;.;.;.;.	3.235541	0.44146	21.9	0.89984954986976196	0.19278	0.82233	0.41492	D	AEFI	0.204186	0.33064	N	-0.311982192409389	0.28691	1.584705	-0.123166351894462	0.34458	1.98233	1.91563810175948E-4	0.05898	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.4	4.4	0.52402	1.040000	0.29888	2.730000	0.34381	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	17.129	0.86599	958	0.09170	Diacylglycerol kinase, accessory domain|Diacylglycerol kinase, accessory domain;Diacylglycerol kinase, accessory domain|Diacylglycerol kinase, accessory domain;Diacylglycerol kinase, accessory domain|Diacylglycerol kinase, accessory domain;Diacylglycerol kinase, accessory domain|Diacylglycerol kinase, accessory 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	0.003525	0.015152	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1946.43	34	chr7	14176894	.	C	T	1946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.382;DP=480;ExcessHet=0;FS=0.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.089;SOR=0.615	GT:AD:DP:GQ:PL	0/1:64,79:143:99:1958,0,1579	9	0	1	0
chr7	28955837	28955837	T	C	exonic	TRIL	.	nonsynonymous SNV	TRIL:NM_014817:exon1:c.A2210G:p.H737R	.	419	1087	15	1	0	17	0.00775901	.	.	.	2343909	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0008	0.0007	0	0	0	0.0002	0	0.0014	9.7e-05	15	154602	rs552268645	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0012	0.0011	0	8.407e-05	3.977e-05	0	0	0.0013	0.0001	0.0003	0.0014	0.0001	0.0001	0.0001	0.0002	0.0002	9.144e-05	7.7e-05	0.0001	0.0001	2.405e-05	0	0.0001	0.0003	0	0	0	0.0002	0	0.0002	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	.	.	.	0.975	0.24501	L	.	.	.	.	.	.	0.213	0.23758	.	.	.	.	.	.	.	0.037733972	0.02147	T	.	.	.	.	.	.	.	0.16115917748	0.15686	0.7757780889235907	0.77527	.	.	0.88207089901	0.94237	D	0.026249	0.19463	T	-0.190091	0.22246	T	-0.0759077	0.65201	T	.	.	.	0.744825	0.36507	T	0.24914415	0.47907	0.48429352	0.70146	0.24914415	0.47907	0.48429352	0.70147	-3.94	0.22903	T	.	.	0.495	0.64371	A	.	.	4.608357	0.73054	25.9	0.87910761823756434	0.17573	0.91664	0.54002	D	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999999999999941	0.74766	0.110573	0.02883	0	0.085267	0.02369	0	0.012449	0.00143	3	0.175304	0.04163	0	0.954394	0.63069	4.77	4.77	0.60425	1.400000	0.34186	6.033000	0.52942	0.656000	0.54149	0.930000	0.32276	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.457	0.67002	905	0.23532	.	.	.	.	.	.	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	0.000596	0.000000	0.000000	0.000000	0.000000	0.000000	0.003704	0.000000	0.05	815.43	36	chr7	28955837	.	T	C	815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.252;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.238;SOR=0.66	GT:AD:DP:GQ:PL	0/1:31,35:66:99:827,0,806	9	0	1	0
chr7	28956050	28956050	C	T	exonic	TRIL	.	nonsynonymous SNV	TRIL:NM_014817:exon1:c.G1997A:p.G666E	.	421	1085	15	1	0	17	0.00777321	.	.	.	2343908	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0009	0.0018	0	0	0	0.0002	0	0.0015	0.0001682	26	154602	rs562686571	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0012	0.0011	0	0.0001	3.962e-05	0	0	0.0012	9.872e-05	0.0004	0.0014	0.0001	0.0001	0.0001	0.0002	0.0002	9.734e-05	8.25e-05	0.0001	0.0001	2.404e-05	0	0.0001	0.0003	0	0	0	0.0002	0.0005	0.0002	.	.	.	0.0	0.92824	D	0.161	0.28372	B	0.04	0.23831	B	.	.	.	.	.	.	.	0.805	0.20218	L	.	.	.	.	.	.	0.281	0.31814	.	.	.	.	.	.	.	0.020411104	0.00470	T	.	.	.	.	.	.	.	0.235664433957	0.23186	0.6701716336355094	0.66955	.	.	0.911084532738	0.97572	D	0.074256	0.34896	T	-0.0726185	0.40906	T	0.0928331	0.76434	D	.	.	.	0.772323	0.40326	T	0.16641808	0.36975	0.44492948	0.67658	0.16641808	0.36975	0.44492948	0.67658	-4.138	0.25848	T	.	.	0.450	0.62221	A	.	.	3.933020	0.57499	23.9	0.96275039957709485	0.29263	0.99439	0.96043	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999999999999997	0.74766	0.166803	0.03914	0	0.166317	0.03975	0	0.132232	0.03703	1	0.155393	0.04056	0	0.81525	0.48538	4.99	3.18	0.35615	0.598000	0.23774	5.878000	0.50610	0.541000	0.25215	0.002000	0.15269	1.000000	0.68203	0.947000	0.49155	0.0:0.8449:0.0:0.1551	10.660	0.44888	905	0.23532	Fibronectin type III	.	.	.	.	.	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	0.002575	0.000000	0.004144	0.000000	0.000000	0.000000	0.006289	0.003846	0.05	1336.43	36	chr7	28956050	.	C	T	1336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.2;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=2.22;SOR=0.619	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1348,0,1216	9	0	1	0
chr7	36618320	36618320	G	A	exonic	AOAH	.	nonsynonymous SNV	AOAH:NM_001177507:exon9:c.C632T:p.P211L,AOAH:NM_001177506:exon10:c.C728T:p.P243L,AOAH:NM_001637:exon10:c.C728T:p.P243L	.	427	1065	28	2	0	32	0.0148011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	.	0.0022	0.00878594	0.0093	0.0004	0.0258	0.0334	0.0109	0.0037	0.0143	0.0121	0.0084281	1303	154602	rs80187893	0.0046	0.0048	0.0044	0.0049	0.0327	0.0045	0.0045	0.0313	0.0307	0.0004	0.0235	0.0091	0.0327	0.0090	0.0092	0.0020	0.0057	0.0130	0.0051	0.0051	0.0041	0.0062	0.0278	0.0048	0.0047	0.0241	0.0227	0.0008	0	0.0131	0.0087	0.0278	0.0121	0.0034	0.0025	0.0066	0.0122	.	.	.	0.014	0.66756	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.999993	0.58761	D	.	.	.	.	.	.	.	.	.	0.813	0.81957	0.144	0.84958	D	0.472	0.79721	T	9	0.010548472	0.00234	T	.	.	.	.	.	.	.	.	.	0.7680294996490177	0.76751	.	.	0.489249646664	0.37333	T	0.496599	0.81883	T	0.040285	0.57085	T	0.308775	0.88597	D	0.0208232510523532	0.00782	T	0.954605	0.82717	D	0.7881408	0.83157	0.39030266	0.63829	0.7881408	0.83159	0.39030266	0.63829	-11.391	0.81759	D	.	.	0.274	0.52825	B	.;.;.	.;.;.	4.890986	0.80306	27.3	0.99870412119360086	0.94815	0.93504	0.58397	D	AEFBI	0.680081	0.64390	D	0.703733816015559	0.79876	7.171534	0.698820057804056	0.82288	7.730277	0.999991816901572	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	5.619000	0.67408	11.398000	0.92662	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.824	0.78459	903	0.23940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.005051	0.005435	0.002924	0.050000	0.008621	0.018293	0.003788	0.05	2201.43	33	chr7	36618320	.	G	A	2201.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.19;DP=432;ExcessHet=0;FS=4.441;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.35;ReadPosRankSum=1.53;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,61:120:99:0|1:36618320_G_A:2213,0,2161:36618320	9	0	1	0
chr7	39339680	39339680	-	A	exonic	POU6F2	.	frameshift insertion	POU6F2:NM_001370959:exon5:c.637_638insA:p.L213Hfs*94,POU6F2:NM_001166018:exon6:c.550_551insA:p.L184Hfs*94,POU6F2:NM_007252:exon6:c.550_551insA:p.L184Hfs*94	.	1	1503	15	0	3	18	0.00496524	.	.	.	4008052	Wilms_tumor_5	MONDO:MONDO:0011112,MedGen:C1832099,OMIM:601583,Orphanet:654	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0.0018	0.0002	0.0038	0.0033	0.0004398	68	154602	rs766603583	0.0010	0.0014	0.0008	0.0012	0.0064	0.0009	0.0009	0.0060	0.0058	0.0001	0.0006	0.0007	0	0.0021	0.0026	0.0006	0.0009	0.0064	0.0013	0.0014	0.0011	0.0015	0.0077	0.0012	0.0011	0.0057	0.0051	0.0002	0	0.0008	0.0009	0	0.0037	0	0.0014	0.0014	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2860.1	102	chr7	39339680	.	C	CA	2860.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.39;DP=516;ExcessHet=0.2348;FS=3.353;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=2.64;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,40:107:99:0|1:39339680_C_CA:1475,0,2693:39339680	8	0	2	0
chr7	39339681	39339681	T	G	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.T638G:p.L213R,POU6F2:NM_001166018:exon6:c.T551G:p.L184R,POU6F2:NM_007252:exon6:c.T551G:p.L184R	.	1	1503	14	1	3	19	0.00529451	.	.	.	722503	not_provided|POU6F2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.297	0.0745331248071	.	.	0.0006	0	0	0	0.0018	0.0002	0.0039	0.0032	0.0004269	66	154602	rs566759150	0.0010	0.0014	0.0008	0.0012	0.0064	0.0009	0.0009	0.0060	0.0058	0.0001	0.0006	0.0007	0	0.0021	0.0026	0.0006	0.0009	0.0064	0.0013	0.0014	0.0011	0.0015	0.0077	0.0012	0.0011	0.0057	0.0051	0.0002	0	0.0009	0.0009	0	0.0037	0	0.0014	0.0014	0.0077	0.05	0.51248	D	0.384	0.17750	T	0.995	0.77913	D	0.979	0.84481	D	0.003268	0.00950	U	5.088810	0.957031	0.38004	D	0.345	0.11182	N	0.93	0.86349	T	0.27	0.06868	N	0.711	0.75101	-0.2995	0.74999	T	0.576	0.84685	D	10	0.008406937	0.00191	T	0.074533	0.72064	D	0.297	0.61730	.	.	0.902403036094	0.90142	0.13895129386167432	0.13818	0.188262878971	0.21156	0.73977124691	0.72940	T	0.052548	0.29192	T	0.0947825	0.63724	D	-0.101628	0.63272	T	0.0788612767488848	0.09841	T	0.480052	0.14930	T	0.313356	0.54075	0.32990277	0.58865	0.4213184	0.62180	0.32705986	0.58606	-7.142	0.57933	T	.	.	0.136	0.39064	B	.;.;.;.;.	.;.;.;.;.	2.936691	0.39031	20.9	0.98927095159951717	0.48676	0.99051	0.90508	D	AEFDBI	0.822586	0.74288	D	0.268068562511938	0.54539	3.619105	0.319795148205281	0.56704	3.834135	0.743475314039906	0.23249	0.554377	0.28877	0	0.624306	0.53593	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.54	4.54	0.55220	6.366000	0.73033	4.896000	0.45813	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.541	0.61136	870	0.31527	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1	3329.06	102	chr7	39339681	.	T	G	3329.06	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.02;DP=513;ExcessHet=0.2348;FS=3.271;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=2.95;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,31:98:99:0|1:39339680_C_CA:1475,0,2693:39339680	8	0	2	0
chr7	39339682	39339682	-	AG	exonic	POU6F2	.	frameshift insertion	POU6F2:NM_001370959:exon5:c.639_640insAG:p.Q214Sfs*118,POU6F2:NM_001166018:exon6:c.552_553insAG:p.Q185Sfs*118,POU6F2:NM_007252:exon6:c.552_553insAG:p.Q185Sfs*118	.	1	1503	2	0	16	18	0.000664894	.	.	.	4008053	Wilms_tumor_5	MONDO:MONDO:0011112,MedGen:C1832099,OMIM:601583,Orphanet:654	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0.0005	0.0001	0.0013	0.0031	3.84e-05	1	26028	rs754399260	0.0009	0.0013	0.0007	0.0011	0.0064	0.0009	0.0008	0.0059	0.0058	0.0001	0.0006	0.0007	0	0.0005	0.0026	0.0006	0.0008	0.0064	0.0010	0.0011	0.0009	0.0012	0.0073	0.0009	0.0009	0.0054	0.0047	0.0002	0	0.0009	0.0009	0	0.0005	0	0.0014	0.0009	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3329.03	102	chr7	39339682	.	C	CAG	3329.03	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.51;DP=515;ExcessHet=0.2348;FS=3.271;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=2.81;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,31:98:99:0|1:39339680_C_CA:1475,0,2693:39339680	8	0	2	0
chr7	39339687	39339687	T	A	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.T644A:p.L215H,POU6F2:NM_001166018:exon6:c.T557A:p.L186H,POU6F2:NM_007252:exon6:c.T557A:p.L186H	.	2	1502	14	1	3	19	0.00529801	.	.	.	722504	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.173	0.128482008254	.	0.00219649	0.0008	0	0	0	0.0019	0.0003	0.0040	0.0045	0.0006662	103	154602	rs558679060	0.0012	0.0014	0.0010	0.0014	0.0072	0.0011	0.0011	0.0068	0.0066	0.0001	0.0006	0.0007	0	0.0021	0.0035	0.0008	0.0010	0.0072	0.0013	0.0014	0.0011	0.0015	0.0078	0.0012	0.0011	0.0058	0.0051	0.0002	0	0.0009	0.0009	0	0.0037	0	0.0015	0.0014	0.0078	0.013	0.68238	D	0.091	0.41405	T	0.0	0.02946	B	0.0	0.04355	B	0.526992	0.11679	U	0.674572	0.687166	0.33290	D	0	0.06538	N	0.99	0.86283	T	0.44	0.04091	N	0.472	0.55799	-0.6724	0.61720	T	0.344	0.70899	T	10	0.0053934455	0.00118	T	0.128482	0.81043	D	0.173	0.43840	.	.	0.795581171059	0.79368	0.2851193258759142	0.28424	0.164144482972	0.18523	0.573362588882	0.49153	T	0.081322	0.36571	T	0.0179733	0.54108	T	-0.211959	0.53507	T	0.0254729737496765	0.01335	T	0.329867	0.07558	T	0.11896534	0.28020	0.18976596	0.42341	0.14952165	0.34083	0.16491888	0.38178	-5.183	0.39235	T	.	.	0.233	0.48572	B	.;.;.;.;.	.;.;.;.;.	2.685035	0.35034	19.79	0.95294137525612943	0.26605	0.86589	0.45901	D	AEFDBI	0.091232	0.18482	N	-0.65631439813835	0.17276	0.8876356	-0.530111321139244	0.21337	1.15378	2.95067598432571E-4	0.06406	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.39	1.85	0.24418	2.459000	0.44680	2.056000	0.30370	0.665000	0.62972	1.000000	0.71638	0.992000	0.31684	0.997000	0.79791	0.6554:0.0:0.0:0.3446	8.716	0.33575	870	0.31527	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005699	0.010101	0.002717	0.006993	0.000000	0.025862	0.000000	0.007576	0.1	3148.14	105	chr7	39339687	.	T	A	3148.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.41;DP=507;ExcessHet=0.2348;FS=4.108;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=2.77;SOR=0.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,31:95:99:0|1:39339680_C_CA:1095,0,2595:39339680	8	0	2	0
chr7	39950852	39950854	GCC	-	exonic	CDK13	.	nonframeshift deletion	CDK13:NM_003718:exon1:c.211_213del:p.A76del,CDK13:NM_031267:exon1:c.211_213del:p.A76del	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, Autosomal dominant	333	1184	5	0	0	5	0.00210704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0	0	0	.	0	0	0.0063	0.0001153	3	26028	rs752685344	0.0007	0.0053	0.0006	0.0008	0.0031	0.0006	0.0006	0.0027	0.0026	0.0002	0.0015	0.0011	0.0002	0.0013	0.0015	0.0005	0.0007	0.0031	0	4.603e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	105.4	28	chr7	39950851	.	AGCC	A	105.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.74;DP=158;ExcessHet=0;FS=2.409;InbreedingCoeff=-0.053;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.02;ReadPosRankSum=2.33;SOR=0.193	GT:AD:DP:GQ:PL	0/1:17,4:21:99:117,0,678	9	0	1	0
chr7	42023572	42023572	C	G	exonic	GLI3	.	nonsynonymous SNV	GLI3:NM_000168:exon10:c.G1393C:p.G465R	Greig cephalopolysyndactyly syndrome, Autosomal dominant;Pallister-Hall syndrome, Autosomal dominant;Polydactyly, postaxial, types A1 and B, Autosomal dominant;Polydactyly, preaxial, type IV, Autosomal dominant	0	1477	44	1	0	46	0.0153333	.	.	.	252866	Pallister-Hall_syndrome|Greig_cephalopolysyndactyly_syndrome|not_provided|Polydactyly|not_specified	MONDO:MONDO:0007804,MedGen:C0265220,OMIM:146510,Orphanet:672|MONDO:MONDO:0008287,MedGen:C0265306,OMIM:175700,Orphanet:380|MedGen:C3661900|Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.226	0.0299272507372	0.0038	0.000998403	0.0044	0.0004	0.0029	0	0.0029	0.0068	0.0055	0.0012	0.004062	628	154602	rs35488756	0.0040	0.0040	0.0038	0.0042	0.0229	0.0039	0.0039	0.0197	0.0185	0.0008	0.0028	0.0083	2.519e-05	0.0025	0.0229	0.0043	0.0044	0.0014	0.0033	0.0033	0.0034	0.0032	0.0050	0.0031	0.0030	0.0046	0.0044	0.0004	0	0.0031	0.0072	0.0002	0.0027	0.0377	0.0050	0.0086	0.0021	0.386	0.10980	T	0.079	0.42086	T	0.017	0.17573	B	0.01	0.14941	B	0.000000	0.84330	D	0.043845	1	0.81001	D	1.905	0.50856	L	-0.39	0.69158	T	-1.97	0.45587	N	0.822	0.81758	-0.7588	0.57471	T	0.218	0.58007	T	10	0.00919497	0.00208	T	0.029927	0.52343	D	0.226	0.52472	0.269	0.21735	0.735286814614	0.73292	0.3599121688930344	0.35905	0.631794354057	0.57122	0.860202550888	0.91141	D	0.364331	0.72993	T	-0.169071	0.25376	T	-0.0131616	0.69478	D	0.0198023934957371	0.00682	T	0.944506	0.78979	D	0.23039405	0.45793	0.28803176	0.54817	0.24898969	0.47890	0.29560518	0.55591	-9.105	0.68369	D	0.7767274389200907	0.85711	0.816	0.78032	P	.;.	.;.	4.526654	0.71028	25.6	0.99819326486150983	0.90238	0.98718	0.85968	D	AEFDBI	0.803880	0.72890	D	0.164509815850464	0.49502	3.149775	0.343521531659773	0.58118	3.980624	1.0	0.98316	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.81	5.81	0.92413	6.058000	0.70754	5.965000	0.51894	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.091	0.97819	894	0.26265	.;.	.	.	.	.	.	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	0.018127	0.010101	0.021739	0.014620	0.000000	0.034483	0.015244	0.015152	0.05	1391.43	34	chr7	42023572	.	C	G	1391.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.841;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=1.18;SOR=0.637	GT:AD:DP:GQ:PL	0/1:72,60:132:99:1403,0,1858	9	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	376.29	108	chr7	43624718	.	C	G	376.29	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.305;DP=964;ExcessHet=4.5998;FS=280.433;InbreedingCoeff=-0.4254;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=1.14;SOR=10.021	GT:AD:DP:GQ:PL	0/1:60,22:82:9:9,0,1328	4	0	6	0
chr7	44539007	44539007	T	C	exonic	NPC1L1	.	nonsynonymous SNV	NPC1L1:NM_001101648:exon2:c.A1390G:p.N464D,NPC1L1:NM_001300967:exon2:c.A1390G:p.N464D,NPC1L1:NM_013389:exon2:c.A1390G:p.N464D	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.1055694662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.229	0.26306	T	0.634	0.40281	P	0.215	0.37512	B	0.000001	0.84330	D	0.054833	0.537351	0.32025	D	2.39	0.68882	M	-3.16	0.92996	D	-2.14	0.49684	N	0.374	0.43706	0.175	0.85489	D	0.663	0.88302	D	10	0.25123477	0.42461	T	0.105569	0.78074	D	0.282	0.59981	0.373	0.38503	0.892076201581	0.89100	0.6007070930439669	0.60001	0.174264859333	0.19618	0.511412739754	0.40420	T	0.171465	0.51960	T	-0.0580707	0.43208	T	-0.321191	0.42443	T	0.509793758392334	0.32989	D	0.793521	0.43550	T	0.19237274	0.40904	0.2144566	0.45997	0.19237274	0.40904	0.2144566	0.45996	-8.976	0.67542	D	.	.	0.17	0.45323	B	.;.;.;.	.;.;.;.	2.252221	0.28770	17.91	0.98969112706159623	0.49501	0.89000	0.49210	D	AEFDBI	0.567112	0.57283	D	-0.299422143427165	0.29171	1.615315	-0.220870239823937	0.30788	1.736609	0.999999878021047	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.07	3.89	0.44098	1.746000	0.37915	1.203000	0.24851	-0.154000	0.11915	0.980000	0.35271	0.994000	0.32194	0.846000	0.39970	0.0:0.0:0.1684:0.8316	10.160	0.42022	783	0.47268	.;.;.;.	.	.	.	.	.	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	3432.14	138	chr7	44539007	.	T	C	3432.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.571;DP=576;ExcessHet=0.2348;FS=0.439;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.151;SOR=0.738	GT:AD:DP:GQ:PL	0/1:73,64:137:99:1568,0,2071	8	0	2	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	.	.	.	.	.	.	.	.	0.3	916.9	137	chr7	47829596	.	G	C	916.9	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.646;DP=1246;ExcessHet=22.563;FS=294.996;InbreedingCoeff=-0.914;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.475;SOR=11.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,36:90:99:.:.:211,0,868:.	4	0	6	0
chr7	47853147	47853147	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon31:c.T4940C:p.I1647T	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	420	1065	36	1	0	38	0.0175277	.	.	YES	700108	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.00307578698085	0.0024	0.00119808	0.0028	0.0006	0.0048	0.0001	0.0003	0.0031	0.0044	0.0038	0.0026132	404	154602	rs150396842	0.0025	0.0025	0.0025	0.0026	0.0269	0.0025	0.0024	0.0234	0.0221	0.0006	0.0032	0.0006	0	0.0002	0.0269	0.0025	0.0039	0.0039	0.0019	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0022	0.0009	0	9.413e-05	0.0374	0.0029	0.0028	0.0023	0.132	0.26519	T	0.13	0.34716	T	0.172	0.28767	B	0.025	0.20508	B	0.923955	0.07493	N	1.050930	1	0.08975	N	0.895	0.22405	L	1.9	0.23486	T	-2.15	0.48687	N	0.153	0.15749	-1.0059	0.28186	T	0.042	0.17910	T	10	0.0092950165	0.00210	T	0.003076	0.06636	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.2955123806695108	0.29464	0.12647757418	0.14255	0.317104578018	0.12981	T	0.060975	0.31530	T	-0.603463	0.00139	T	-0.637275	0.09869	T	0.00694634325530632	0.00079	T	0.363264	0.08416	T	0.08808688	0.20535	0.11958772	0.28864	0.08808688	0.20535	0.11958772	0.28863	-10.882	0.79007	D	0.19642316934644846	0.25944	0.365	0.57542	A	.	.	1.026868	0.14066	10.64	0.75558764966743985	0.11122	0.03166	0.08140	N	AEFI	0.043929	0.07004	N	-0.821283035922916	0.12767	0.6244539	-0.837001255752562	0.13600	0.7064044	0.244068471712208	0.18605	0.533608	0.22052	0	0.615948	0.52940	0	0.615948	0.41167	0	0.638833	0.57524	0	.	.	5.14	2.69	0.30923	0.979000	0.29098	1.846000	0.29223	0.756000	0.94297	0.001000	0.13787	0.001000	0.17328	0.613000	0.31716	0.8093:0.0:0.1907:0.0	6.861	0.23249	923	0.18507	.	.	.	.	.	.	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	0.015136	0.010204	0.016304	0.026316	0.000000	0.000000	0.018405	0.011364	0.05	797.43	33	chr7	47853147	.	A	G	797.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.61;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.655;SOR=0.762	GT:AD:DP:GQ:PL	0/1:36,33:69:99:809,0,884	9	0	1	0
chr7	47915452	47915452	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon8:c.T1208C:p.L403P	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	430	1070	20	2	0	24	0.0110906	.	.	.	700117	PKD1L1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0105	0.00479233	0.0075	0.0095	0.0057	0	0.0085	0.0095	0.0088	0.0026	0.0073738	1140	154602	rs146750610	0.0084	0.0084	0.0084	0.0083	0.0130	0.0082	0.0081	0.0103	0.0097	0.0094	0.0065	0.0054	0	0.0076	0.0130	0.0100	0.0084	0.0026	0.0092	0.0092	0.0098	0.0086	0.0112	0.0088	0.0087	0.0105	0.0102	0.0088	0	0.0088	0.0066	0	0.0079	0.0170	0.0112	0.0123	0.0015	0.325	0.13349	T	0.345	0.17750	T	0.659	0.40886	P	0.049	0.25116	B	0.000038	0.00348	U	54.428400	1	0.08975	N	-0.345	0.03330	N	1.65	0.27650	T	-1.03	0.27052	N	0.412	0.45237	-1.0398	0.17374	T	0.023	0.09787	T	9	0.0037185848	0.00069	T	.	.	.	0.162	0.41843	.	.	0.305730143919	0.30178	0.20323975704259653	0.20240	0.15169249651	0.17120	0.442275464535	0.30888	T	0.020967	0.16414	T	-0.596252	0.00154	T	-0.622429	0.10995	T	0.00942255087255087	0.00121	T	0.327867	0.06820	T	0.55444974	0.70202	0.3174846	0.57723	0.55444974	0.70204	0.3174846	0.57722	-5.172	0.38656	T	.	.	0.132	0.28464	B	.	.	0.650242	0.10185	6.928	0.79395962093093431	0.12722	0.00522	0.02430	N	AEFDBI	0.058155	0.10890	N	-0.966124456187936	0.09335	0.4413434	-1.09479251839727	0.07801	0.3809623	0.989391670831821	0.31812	0.569682	0.32691	0	0.563428	0.19063	0	0.578056	0.29568	0	0.567339	0.31927	0	.	.	0.633	0.633	0.16883	0.347000	0.19760	-0.905000	0.06976	0.562000	0.28470	0.237000	0.24716	0.000000	0.08366	0.232000	0.22788	.	.	.	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.011399	0.015152	0.012228	0.010490	0.000000	0.008621	0.012195	0.000000	0.05	912.43	35	chr7	47915452	.	A	G	912.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.086;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-1.333;SOR=0.633	GT:AD:DP:GQ:PL	0/1:34,39:73:99:924,0,766	9	0	1	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4375	1877.94	33	chr7	50368104	.	C	G	1877.94	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-4.104;DP=1523;ExcessHet=7.0302;FS=219.639;InbreedingCoeff=-0.6579;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=2.04;SOR=11.783	GT:AD:DP:GQ:PL	0/1:114,41:155:12:12,0,2033	1	0	7	2
chr7	55472872	55472872	C	T	exonic	VOPP1	.	nonsynonymous SNV	VOPP1:NM_001321246:exon4:c.G424A:p.V142I,VOPP1:NM_001321247:exon4:c.G308A:p.G103D,VOPP1:NM_001321248:exon4:c.G313A:p.V105I,VOPP1:NM_001284282:exon5:c.G451A:p.V151I,VOPP1:NM_001284283:exon5:c.G493A:p.V165I,VOPP1:NM_001284284:exon5:c.G475A:p.V159I,VOPP1:NM_001321242:exon5:c.G521A:p.G174D,VOPP1:NM_001321249:exon5:c.G389A:p.G130D,VOPP1:NM_001321250:exon5:c.G389A:p.G130D,VOPP1:NM_001321251:exon5:c.G389A:p.G130D,VOPP1:NM_030796:exon5:c.G502A:p.V168I,VOPP1:NM_001321243:exon6:c.G428A:p.G143D,VOPP1:NM_001321244:exon6:c.G496A:p.V166I	.	348	1164	10	0	0	10	0.00427716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00611534382965	.	.	0.0019	0	0	0	0	0.0027	0	0.0020	0.0001921	5	26028	rs753017721	0.0007	0.0007	0.0006	0.0007	0.0113	0.0006	0.0006	0.0088	0.0079	0.0005	0.0014	0.0006	0	0	0.0113	0.0007	0.0013	0.0005	0.0007	0.0008	0.0008	0.0006	0.0015	0.0006	0.0006	0.0010	0.0008	0.0002	0	0.0015	0	0	0	0.0172	0.0009	0.0021	0.0005	0.11	0.29158	T	0.082	0.43913	T	0.975	0.58077	D	0.761	0.56482	P	.	.	.	.	0.944262	0.37442	D	1.04	0.26193	L	.	.	.	-0.5	0.20791	N	0.421	0.57433	-0.5813	0.65566	T	0.229	0.59434	T	8	0.02328536	0.00605	T	0.006115	0.15993	T	0.117	0.32689	.	.	0.352262096564	0.34836	0.314835483097391	0.31396	0.699190003716	0.61010	0.651013791561	0.60129	T	0.014112	0.12078	T	-0.341102	0.05312	T	-0.270009	0.47818	T	0.0497159107662204	0.05450	T	0.886711	0.61387	D	0.08660421	0.20136	0.1043666	0.25064	0.08660421	0.20136	0.1043666	0.25063	-7.013	0.57793	T	.	.	0.219	0.45726	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.067616	0.60414	24.2	0.99855892711894434	0.93458	0.95972	0.66957	D	AEFDGBI	0.529795	0.55076	D	0.553094033045629	0.70272	5.477097	0.60525913816113	0.75320	6.289914	0.999999938675794	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.48	5.48	0.80675	5.326000	0.65654	7.594000	0.61341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	16.846	0.85844	805	0.43675	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007937	0.000000	0.008596	0.017699	0.000000	0.017857	0.003676	0.004132	0.05	427.43	34	chr7	55472872	.	C	T	427.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.346;DP=219;ExcessHet=0;FS=3.554;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=38.37;MQRankSum=-0.735;QD=12.57;ReadPosRankSum=0.226;SOR=0.132	GT:AD:DP:GQ:PL	0/1:19,15:34:99:439,0,647	9	0	1	0
chr7	56101805	56101805	-	A	exonic	CHCHD2	.	stoploss	CHCHD2:NM_001320327:exon4:c.505dupT:p.*169delinsLS*	Parkinson disease 22, autosomal dominant	.	.	.	.	.	.	.	.	.	.	1268040	not_provided|CHCHD2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0007	0.0103834	0.0108	0.0012	0.1099	0	0	0.0002	0.0077	6.061e-05	0.0029584	77	26028	rs35957514	0.0031	0.0032	0.0037	0.0026	0.0982	0.0030	0.0030	0.0957	0.0947	0.0008	0.0982	0	2.536e-05	0	0	2.709e-05	0.0030	4.78e-05	0.0074	0.0075	0.0067	0.0082	0.0688	0.0071	0.0069	0.0654	0.0640	0.0012	0	0.0688	0	0	0	0	5.88e-05	0.0118	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1536.1	52	chr7	56101805	.	T	TA	1536.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.032;DP=329;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.53;MQRankSum=2.17;QD=15.21;ReadPosRankSum=0.101;SOR=0.722	GT:AD:DP:GQ:PL	0/1:22,27:49:99:854,0,647	8	0	2	0
chr7	72863913	72863913	C	T	exonic	SPDYE7P	.	nonsynonymous SNV	SPDYE7P:NM_001382704:exon7:c.G740A:p.R247H	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402952361	0.0004	0.0005	0.0003	0.0005	0.0046	0.0004	0.0003	0.0042	0.0041	0	0	0.0002	0.0021	3.772e-05	0.0002	3.598e-05	0.0004	0.0046	0.0005	0.0005	0.0003	0.0006	0.0083	0.0004	0.0003	0.0063	0.0055	0	0	0.0001	0.0012	0.0033	0	0	8.819e-05	0	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	771.43	34	chr7	72863913	.	C	T	771.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=348;ExcessHet=0;FS=4.815;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.56;MQRankSum=-4.575;QD=20.85;ReadPosRankSum=1.28;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,20:37:99:0|1:72863913_C_T:783,0,620:72863913	9	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	.	.	.	.	.	.	.	.	0.4	764.96	190	chr7	93102964	.	C	G	764.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-6.623;DP=1746;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.6656;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.095;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,22:172:29:.:.:29,0,5454:.	2	0	8	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	.	.	.	.	.	.	.	.	0.5	1530.03	190	chr7	93102965	.	C	G	1530.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.233;DP=1910;ExcessHet=22.563;FS=128.174;InbreedingCoeff=-0.9987;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.483;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,31:175:99:.:.:105,0,5449:.	0	0	10	0
chr7	93103253	93103253	C	A	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G2845T:p.A949S,SAMD9:NM_017654:exon3:c.G2845T:p.A949S	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	1187283	SAMD9-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	0.00235930496808	7.7e-05	0.000399361	0.0003	0	0.0004	0	0	0.0005	0	0.0004	0.0003299	51	154602	rs151038564	0.0003	0.0003	0.0003	0.0003	0.0028	0.0003	0.0003	0.0017	0.0014	2.987e-05	0.0004	0.0041	2.52e-05	0	0.0028	0.0002	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0002	2.407e-05	0	0.0003	0.0046	0	0	0	0.0004	0	0	0.136	0.28520	T	0.502	0.16086	T	0.075	0.24198	B	0.043	0.24256	B	0.060815	0.22220	N	0.380726	1	0.08975	N	2.38	0.68558	M	1.92	0.23082	T	-0.28	0.11547	N	0.066	0.07398	-1.0215	0.23227	T	0.040	0.17362	T	10	0.006142378	0.00138	T	0.002359	0.04590	T	0.014	0.01968	.	.	0.445614145163	0.44183	0.15170462133607512	0.15092	0.144935694035	0.16379	0.306561410427	0.11388	T	0.007937	0.16209	T	-0.495964	0.00602	T	-0.591614	0.13526	T	0.0128239031194499	0.00218	T	0.629237	0.24427	T	0.03410155	0.03761	0.04003537	0.04236	0.03410155	0.03761	0.04003537	0.04236	-2.577	0.06330	T	0.1559713212190247	0.18732	0.097	0.21840	B	.;.;.	.;.;.	0.794003	0.11644	8.230	0.94112966816544275	0.24284	0.05426	0.11299	N	AEFBI	0.087320	0.17705	N	-0.77464793926998	0.13973	0.6923607	-0.767771550666298	0.15286	0.8031851	0.0669147450015858	0.15409	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.79	2.96	0.33383	-0.809000	0.04617	-3.399000	0.02816	-0.869000	0.02574	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1864:0.5506:0.0:0.2629	3.376	0.06815	805	0.43675	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	4750.12	98	chr7	93103253	.	C	A	4750.12	.	AC=2;AF=0.1;AN=20;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.67;SOR=0.959	GT:AD:DP:GQ:PL	1/1:0,150:150:99:4773,450,0	9	1	0	0
chr7	99499708	99499708	G	C	exonic	ZNF394	.	nonsynonymous SNV	ZNF394:NM_001345967:exon1:c.C386G:p.P129R,ZNF394:NM_001345968:exon1:c.C386G:p.P129R,ZNF394:NM_032164:exon1:c.C386G:p.P129R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00610590013775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.91255	D	0.014	0.92824	D	0.952	0.54136	P	0.73	0.55268	P	0.116511	0.19190	N	0.447011	0.999993	0.27486	N	3.78	0.95251	H	3.08	0.08460	T	-6.99	0.98093	D	0.452	0.52740	-0.9875	0.33224	T	0.080	0.31615	T	10	0.67041683	0.70679	D	0.006106	0.15964	T	0.158	0.41098	0.737	0.86978	0.422404719673	0.41854	.	.	1.00788437402	0.74654	0.426312506199	0.28705	T	0.242066	0.61073	T	0.0145252	0.53639	T	-0.216912	0.53033	T	0.869294285774231	0.51923	D	0.955504	0.84151	D	0.45304704	0.64234	0.550116	0.73988	0.45304704	0.64234	0.550116	0.73989	-13.782	0.94879	D	.	.	0.66	0.76537	P	.;.	.;.	4.457520	0.69343	25.4	0.99733312831901688	0.82904	0.15941	0.19155	N	AEFDGBHCI	0.086517	0.17542	N	0.247241065685573	0.53501	3.518821	0.0501381212987775	0.42077	2.538915	0.999999993044839	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.98	3.07	0.34476	2.408000	0.44227	6.920000	0.56926	0.676000	0.76740	0.978000	0.35038	1.000000	0.68203	0.992000	0.67800	0.0:0.213:0.787:0.0	9.622	0.38891	329	0.86514	SCAN domain|SCAN domain|SCAN domain|SCAN domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5245.12	33	chr7	99499708	.	G	C	5245.12	.	AC=2;AF=0.1;AN=20;DP=522;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.98;SOR=0.773	GT:AD:DP:GQ:PL	1/1:0,181:181:99:5268,542,0	9	1	0	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6711.04	102	chr7	100175805	.	G	C	6711.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.794;DP=1021;ExcessHet=22.563;FS=312.371;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=1.2;SOR=11.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,54:125:99:0|1:100175805_G_C:940,0,2251:100175805	0	0	10	0
chr7	100952958	100952958	-	ACCACCTCCCACAGTACTCCCAGCTTCACTTCTTCAGCCATCTACTCCACCGTCAACATATCCACAACTACC	exonic	MUC3A	.	nonframeshift insertion	MUC3A:NM_005960:exon2:c.1179_1180insACCACCTCCCACAGTACTCCCAGCTTCACTTCTTCAGCCATCTACTCCACCGTCAACATATCCACAACTACC:p.E393_I394insTTSHSTPSFTSSAIYSTVNISTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.437e-05	0.0002	5.005e-05	1.772e-05	8.556e-05	1.103e-05	6.41e-06	1.522e-05	8.22e-06	0	0	8.556e-05	0	0	0	0	5.735e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5041.39	567	chr7	100952958	.	G	GACCACCTCCCACAGTACTCCCAGCTTCACTTCTTCAGCCATCTACTCCACCGTCAACATATCCACAACTACC	5041.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.974;DP=6050;ExcessHet=0;FS=2.892;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.24;MQRankSum=-7.131;QD=8.53;ReadPosRankSum=-3.075;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:440,151:591:99:0|1:100952942_T_G:5053,0,17259:100952942	9	0	1	0
chr7	100952964	100952964	-	TCATTTCCCCCTTCCTCAGGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCACCCAGCCTTCTGTAACCACTGAGATAACA	exonic	MUC3A	.	nonframeshift insertion	MUC3A:NM_005960:exon2:c.1185_1186insTCATTTCCCCCTTCCTCAGGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCACCCAGCCTTCTGTAACCACTGAGATAACA:p.S396_H397insFPPSSGTMVTFTTMNPSSLSTDISTTTLKNITQPSVTTEITS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	47961.9	596	chr7	100952964	.	C	CTCATTTCCCCCTTCCTCAGGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCACCCAGCCTTCTGTAACCACTGAGATAACA	47961.9	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=6368;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=1;MLEAF=0.05;MQ=58.58;MQRankSum=-4.375;QD=7.78;ReadPosRankSum=2;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:322,24:463:99:.:.:4242,0,13062:.	9	0	1	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6958.44	427	chr7	100953156	.	C	*	6958.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.64;DP=5266;ExcessHet=22.563;FS=8.617;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=57.64;MQRankSum=-15.09;QD=1.34;ReadPosRankSum=1.11;SOR=1.233	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,107:545:99:0|1:100953098_G_C:3340,0,15760:100953098	3	0	7	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	1072.04	423	chr7	100953158	.	G	*	1072.04	.	AC=9;AF=0.45;AN=20;BaseQRankSum=3.81;DP=5175;ExcessHet=22.563;FS=12.462;InbreedingCoeff=-1;MLEAC=9;MLEAF=0.45;MQ=57.63;MQRankSum=-15.35;QD=0.21;ReadPosRankSum=1.34;SOR=1.511	GT:AD:DP:GQ:PL	0/1:384,100:536:99:3043,0,15823	1	0	9	0
chr7	100958370	100958371	CA	-	exonic	MUC3A	.	frameshift deletion	MUC3A:NM_005960:exon2:c.6591_6592del:p.T2198Lfs*32	.	454	1060	8	0	0	8	0.0037594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.802e-05	9.555e-05	1.63e-05	3.835e-05	4.847e-05	1.834e-05	1.566e-05	2.212e-05	1.825e-05	4.847e-05	4.558e-05	0	0	2.656e-05	0	3.542e-05	0	0	0.0002	0.0006	0.0001	0.0003	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0.0002	0	0.0002	0.0003	0	6.527e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	899.39	492	chr7	100958369	.	CCA	C	899.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.29;DP=4869;ExcessHet=0;FS=9.915;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.62;MQRankSum=-8.292;QD=3.81;ReadPosRankSum=-3.31;SOR=1.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,36:236:99:0|1:100958350_TCAAA_T:911,0,8207:100958350	9	0	1	0
chr7	100958371	100958371	A	0	exonic	MUC3A	.	.	.	.	609	901	4	0	8	12	0.00221484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2779.94	481	chr7	100958371	.	A	*	2779.94	.	AC=1;AF=0.25;AN=4;BaseQRankSum=8.86;DP=4797;ExcessHet=0.2348;FS=4.098;InbreedingCoeff=-0.4286;MLEAC=2;MLEAF=0.5;MQ=54.11;MQRankSum=-12.35;QD=5.09;ReadPosRankSum=-5.833;SOR=0.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,36:236:99:0|1:100958350_TCAAA_T:911,0,8207:100958350	1	0	1	8
chr7	101000530	101000530	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G9967A:p.V3323I	.	358	1159	5	0	0	5	0.00215239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0186583538891	.	.	0.0003	0	0	0	0.0025	0.0004	0	0	3.84e-05	1	26028	rs764731576	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.204	0.20078	T	0.248	0.24264	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.76	0.11515	T	-0.41	0.14000	N	0.048	0.03175	-0.9578	0.39589	T	0.011	0.04321	T	6	0.017803043	0.00382	T	0.018658	0.40796	T	0.003	0.00094	.	.	0.0138822411134	0.00435	0.012386921560435575	0.01197	.	.	0.542572498322	0.44809	T	0.003468	0.02879	T	-0.419208	0.01730	T	-0.83994	0.01099	T	0.0362322432272147	0.03021	T	0.175782	0.01728	T	0.07191384	0.15958	0.058027796	0.10653	0.07191384	0.15957	0.058027796	0.10653	-5.897	0.45410	T	.	.	0.134	0.31583	B	.;.	.;.	-0.759034	0.01190	0.058	0.5111400784289799	0.04504	0.00016	0.00195	N	AEFBI	0.024298	0.01482	N	-1.35145559976251	0.03110	0.1383987	-1.53587876634206	0.02074	0.09487683	2.90944674367213E-5	0.03498	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-4.275000	0.00298	-12.385000	0.00529	-2.088000	0.00400	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	.	.	.	.	.	.	.	.	0.1	2438.14	1537	chr7	101000530	.	G	A	2438.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=5.28;DP=10803;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=40.84;MQRankSum=-4.285;QD=0.57;ReadPosRankSum=0.839;SOR=0.7	GT:AD:DP:GQ:PL	0/1:1953,285:2238:99:1634,0,49544	8	0	2	0
chr7	101003779	101003779	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G13216A:p.V4406I	.	445	1076	1	0	0	1	0.000464468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00541676055802	.	0.000199681	0.0008	0	0	0	0	0.0005	0	0.0014	3.84e-05	1	26028	rs541855315	5.958e-05	0.0002	6.024e-05	5.891e-05	0.0004	4.896e-05	4.5e-05	0.0003	0.0002	3.219e-05	2.816e-05	0.0001	8.408e-05	2.878e-05	0.0004	3.73e-05	0	0.0004	6.315e-05	0.0001	4.602e-05	8.131e-05	0.0007	3.111e-05	2.258e-05	0.0002	0.0001	0	0	0.0002	0	0.0002	0	0	3.241e-05	0	0.0007	0.048	0.40319	D	0.465	0.12421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.76	0.11515	T	-0.29	0.12472	N	0.051	0.03283	-0.9721	0.36755	T	0.011	0.04321	T	7	0.020961195	0.00492	T	0.005417	0.13923	T	0.010	0.01040	0.13	0.03494	0.0138822411134	0.00435	0.007913938085373969	0.00756	.	.	0.436083912849	0.30042	T	0.00447	0.03877	T	-0.408956	0.02019	T	-0.825214	0.01350	T	0.00809706671091287	0.00096	T	0.141486	0.01146	T	0.033378	0.03544	0.032640424	0.02031	0.033378	0.03543	0.032640424	0.02031	-6.969	0.53807	T	.	.	0.105	0.24020	B	.;.	.;.	-0.528341	0.01778	0.136	0.48964469915509634	0.04130	0.00016	0.00195	N	AEFBI	0.022800	0.01186	N	-1.38616461570904	0.02767	0.122647	-1.58320656573682	0.01758	0.07996722	2.52774410739463E-4	0.06190	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	1.13	-2.26	0.06478	-1.924000	0.01657	-11.785000	0.00575	-2.835000	0.00177	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3656:0.0:0.45:0.1843	3.734	0.08030	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	.	.	.	.	.	.	.	.	0.05	128.62	235	chr7	101003779	.	G	A	128.62	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.906;DP=901;ExcessHet=0;FS=0;InbreedingCoeff=-0.0661;MLEAC=1;MLEAF=0.05;MQ=27.67;MQRankSum=0.429;QD=6.12;ReadPosRankSum=0.301;SOR=0.223	GT:AD:DP:GQ:PL	0/1:14,7:21:99:140,0,354	9	0	1	0
chr7	101039818	101039818	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8402G:p.P2801R	.	428	1091	3	0	0	3	0.001373	.	.	.	3379407	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.000957552015421	.	.	.	.	.	.	.	.	.	.	0.0040341	105	26028	rs1004398115	3.454e-06	0.0029	2.749e-06	4.165e-06	3.628e-06	1.01e-06	7.4e-07	8.5e-07	5.7e-07	0	0	3.912e-05	0	0	0	3.628e-06	0	0	0.0002	0.0075	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	0	0.0003	0	0.0002	0	0	6.025e-05	0	0.0004	0.024	0.47745	D	.	.	.	0.994	0.66517	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	2.38	0.68558	M	4.57	0.01917	T	-1.58	0.38151	N	0.101	0.08366	-0.9294	0.44227	T	0.010	0.03856	T	9	0.18032071	0.33210	T	9.58E-4	0.00980	T	0.045	0.12272	0.196	0.10839	0.110078149338	0.10416	0.0014453802351999043	0.00133	.	.	0.246509730816	0.03409	T	0.033466	0.22927	T	-0.325489	0.06458	T	-0.705319	0.05540	T	0.118476174771786	0.14280	T	0.450755	0.12737	T	0.047618616	0.08168	0.05372311	0.09104	0.047618616	0.08167	0.05372311	0.09103	-6.882	0.53166	T	.	.	0.175	0.38372	B	.	.	1.157688	0.15464	11.87	0.31560487101999807	0.01785	0.00516	0.02410	N	AEFBI	0.041427	0.06297	N	-1.00578522340815	0.08482	0.3979146	-1.26687851502205	0.04886	0.2315516	1.0614227553124E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.989	0.09718	1.165000	0.31432	-11.132000	0.00632	0.305000	0.19019	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.577:0.2437:0.1793	4.029	0.09186	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1538.14	39	chr7	101039818	.	C	G	1538.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.773;DP=2836;ExcessHet=0.2348;FS=2.049;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.52;MQRankSum=-19.22;QD=1.19;ReadPosRankSum=-8.223;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:636,64:700:99:0|1:101039755_T_C:729,0,26403:101039755	8	0	2	0
chr7	103361983	103361983	C	T	exonic	PSMC2	.	nonsynonymous SNV	PSMC2:NM_001204453:exon5:c.C317T:p.S106L,PSMC2:NM_002803:exon5:c.C317T:p.S106L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.570	0.0606119910596	.	.	1.649e-05	0	0	0	0	1.5e-05	0.0011	0	1.29e-05	2	154602	rs755796502	5.476e-06	5.472e-06	4.087e-06	6.879e-06	3.484e-05	2.36e-06	1.7e-06	9.25e-06	4.57e-06	0	0	0	2.521e-05	0	0	2.698e-06	1.656e-05	3.484e-05	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	0.077	0.34095	T	0.248	0.23845	T	0.127	0.26966	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.4	0.35362	L	-3.43	0.94388	D	-3.36	0.66549	D	0.648	0.66101	0.096	0.84107	D	0.655	0.87985	D	10	0.5498104	0.64191	D	0.060612	0.68060	D	0.570	0.82516	0.454	0.51775	0.875779300213	0.87457	0.4183026770367697	0.41746	1.25267240054	0.81845	0.857811927795	0.90787	D	0.058592	0.30884	T	0.187402	0.72724	D	0.132044	0.79025	D	0.783567070960999	0.45274	D	0.988801	0.96255	D	0.4470836	0.63857	0.2359008	0.48847	0.4470836	0.63857	0.2359008	0.48846	-5.161	0.38543	T	.	.	0.385	0.58721	A	.;.;.;.;.	.;.;.;.;.	4.425342	0.68583	25.3	0.99609174760698682	0.74694	0.97217	0.73382	D	AEFBI	0.831693	0.75019	D	-0.0806067832526044	0.38243	2.236915	0.127244109105958	0.45948	2.849005	0.999999999165255	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	5.924000	0.69776	6.004000	0.52535	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.0:1.0:0.0:0.0	18.917	0.92482	691	0.58815	.;.;.;.;.	.	.	.	.	.	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	4119.12	34	chr7	103361983	.	C	T	4119.12	.	AC=2;AF=0.1;AN=20;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.63;SOR=0.767	GT:AD:DP:GQ:PL	1/1:0,139:139:99:4142,417,0	9	1	0	0
chr7	105106647	105106647	C	T	exonic	KMT2E	.	nonsynonymous SNV	KMT2E:NM_018682:exon19:c.C2722T:p.P908S,KMT2E:NM_182931:exon20:c.C2722T:p.P908S	.	426	1087	9	0	0	9	0.00412277	.	.	YES	1523631	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.309	0.0918667068556	0.0013	0.00199681	0.0017	0.0006	0.0028	0	0.0002	0.0022	0	0.0012	0.0017852	276	154602	rs151289792	0.0020	0.0020	0.0020	0.0020	0.0040	0.0019	0.0019	0.0027	0.0023	0.0002	0.0028	0.0002	5.039e-05	0.0001	0.0040	0.0022	0.0022	0.0014	0.0020	0.0020	0.0021	0.0018	0.0060	0.0018	0.0017	0.0050	0.0047	0.0005	0.0154	0.0060	0.0009	0	0	0.0102	0.0023	0.0038	0.0008	0.018	0.50676	D	0.086	0.40909	T	0.043	0.21573	B	0.016	0.17743	B	0.000003	0.62929	N	0.062567	1	0.81001	D	0.865	0.21413	L	-3.26	0.93587	D	-2.64	0.56630	D	0.143	0.14338	-0.1033	0.80023	T	0.521	0.82139	D	10	0.004043609	0.00079	T	0.091867	0.75787	D	0.309	0.63055	.	.	0.510879019108	0.50729	0.45288137275620616	0.45206	0.208333953422	0.23308	0.367004603148	0.20401	T	0.137282	0.47013	T	-0.260766	0.12810	T	-0.151964	0.59069	T	0.0244446069668206	0.01201	T	0.808919	0.45897	T	0.17409186	0.38194	0.16235496	0.37718	0.16874032	0.37349	0.1391424	0.33207	-2.259	0.04336	T	0.22868820990894395	0.30930	0.080	0.12084	B	.;.	.;.	2.869776	0.37944	20.6	0.86273823466737698	0.16427	0.68182	0.33706	D	AEFDBHCIJ	0.094212	0.19051	N	-0.236060694946543	0.31664	1.777748	-0.0622358928462498	0.36966	2.158116	0.999999777372347	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.34	4.46	0.53567	0.464000	0.21700	2.259000	0.31747	0.549000	0.26987	0.976000	0.34826	1.000000	0.68203	0.997000	0.79791	0.1495:0.7747:0.0:0.0758	8.762	0.33838	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	1	0	0	0	0	1	0	0.004532	0.005051	0.005435	0.002924	0.000000	0.017241	0.006098	0.000000	0.05	2656.43	33	chr7	105106647	.	C	T	2656.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=526;ExcessHet=0;FS=0.502;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.809;SOR=0.747	GT:AD:DP:GQ:PL	0/1:103,108:211:99:2668,0,2407	9	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	.	.	.	.	.	.	.	.	0.05	1847.43	52	chr7	105613788	.	C	T	1847.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=524;ExcessHet=0;FS=1.347;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.207;SOR=0.874	GT:AD:DP:GQ:PL	0/1:68,70:138:99:1859,0,1557	9	0	1	0
chr7	107324511	107324511	G	A	exonic	COG5	.	nonsynonymous SNV	COG5:NM_001379516:exon4:c.C323T:p.P108L,COG5:NM_001161520:exon11:c.C1037T:p.P346L,COG5:NM_001379511:exon11:c.C1037T:p.P346L,COG5:NM_001379512:exon11:c.C1037T:p.P346L,COG5:NM_001379513:exon11:c.C1037T:p.P346L,COG5:NM_001379514:exon11:c.C1037T:p.P346L,COG5:NM_006348:exon11:c.C1037T:p.P346L,COG5:NM_181733:exon11:c.C1037T:p.P346L	Congenital disorder of glycosylation, type IIi	124	1394	4	0	0	4	0.00143266	.	.	.	270301	COG5-related_disorder|Inborn_genetic_diseases|not_provided|COG5-congenital_disorder_of_glycosylation	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0254403389719	0.0008	0.000199681	0.0009	0.0009	0.0014	0.0001	0	0.0011	0.0022	0.0001	0.0008085	125	154602	rs143773937	0.0006	0.0006	0.0005	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	0.0004	0.0007	0.0113	7.62e-05	0	0.0017	0.0003	0.0014	0.0002	0.0006	0.0006	0.0007	0.0006	0.0006	0.0005	0.0005	0.0004	0.0003	0.0006	0	0.0005	0.0101	0.0002	0	0	0.0004	0.0005	0	0.029	0.47320	D	0.061	0.45744	T	0.103	0.29693	B	0.017	0.25551	B	0.015353	0.28271	N	0.422656	0.999979	0.53665	D	2.2	0.62015	M	0.44	0.56609	T	-3.68	0.70314	D	0.203	0.27910	-0.8445	0.52345	T	0.168	0.50697	T	10	0.005508989	0.00122	T	0.02544	0.48409	D	0.087	0.25287	.	.	0.56874858234	0.56539	0.28237833917633737	0.28150	0.0638151823165	0.07108	0.288906216621	0.08763	T	0.111347	0.42676	T	-0.363668	0.03927	T	-0.365319	0.37437	T	0.0427339328725148	0.04188	T	0.906609	0.67067	D	0.22645898	0.45327	0.15863706	0.37035	0.22645898	0.45327	0.15863706	0.37035	-6.457	0.49953	T	.	.	0.093	0.13923	B	.;.;.	.;.;.	3.244757	0.44309	21.9	0.978183391629321	0.36174	0.89939	0.50738	D	AEFBI	0.424515	0.48966	N	0.133827866328755	0.48045	3.022048	0.257369859696174	0.53071	3.477843	0.999999788860004	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.71	4.71	0.59010	5.241000	0.65206	7.513000	0.59647	0.669000	0.69127	0.998000	0.41325	1.000000	0.68203	0.945000	0.48827	0.0:0.0:1.0:0.0	16.949	0.86110	622	0.65860	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003040	0.000000	0.005450	0.000000	0.000000	0.000000	0.006173	0.000000	0.05	160.43	33	chr7	107324511	.	G	A	160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.022;DP=250;ExcessHet=0;FS=0;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=0.389;SOR=0.599	GT:AD:DP:GQ:PL	0/1:26,10:36:99:172,0,625	9	0	1	0
chr7	123582083	123582083	T	C	splicing	NDUFA5	NM_001291304:exon3:c.86-2A>G	.	.	.	563	874	78	7	0	92	0.05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0135783	.	.	.	.	.	.	.	.	0.0111803	291	26028	rs184260455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0095	0.0095	0.0099	0.0092	0.0329	0.0091	0.0090	0.0287	0.0272	0.0021	0.0044	0.0125	0.0421	0.0006	0.0018	0.0306	0.0118	0.0133	0.0329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	429.43	34	chr7	123582083	.	T	C	429.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.238;DP=294;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.441;SOR=0.622	GT:AD:DP:GQ:PL	0/1:13,18:31:99:441,0,299	9	0	1	0
chr7	123627256	123627256	C	T	exonic	ASB15	.	stopgain	ASB15:NM_080928:exon7:c.C844T:p.R282X,ASB15:NM_001290258:exon9:c.C844T:p.R282X	.	432	1085	4	1	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00898562	0.0079	0.0007	0.0500	0.0287	0.0082	0.0004	0.0089	0.0017	0.0070762	1094	154602	rs116956332	0.0029	0.0029	0.0031	0.0027	0.0451	0.0028	0.0028	0.0435	0.0428	0.0004	0.0451	0.0002	0.0339	0.0070	0.0005	0.0002	0.0029	0.0015	0.0049	0.0049	0.0041	0.0057	0.0289	0.0046	0.0045	0.0266	0.0258	0.0006	0	0.0289	0	0.0257	0.0110	0	0.0002	0.0038	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.004952	0.33236	N	0.139826	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.34	0.38129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236669	0.77349	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive;Recessive;Recessive	High;High;High;High;High	8.129159	0.97211	37	0.99676919507720396	0.78977	0.88769	0.48857	D	AEFI	0.410746	0.48150	N	0.589142947540737	0.72497	5.814979	0.434929938980213	0.63754	4.615722	0.00288669013316398	0.09774	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.613276	0.41899	0	.	.	5.77	3.95	0.44952	1.543000	0.35754	1.414000	0.26305	-0.189000	0.09497	0.906000	0.31575	0.999000	0.35428	0.986000	0.61781	0.5595:0.4405:0.0:0.0	14.089	0.64506	714	0.56256	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	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	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	891.43	35	chr7	123627256	.	C	T	891.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.49;DP=386;ExcessHet=0;FS=4.901;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.496;SOR=1.31	GT:AD:DP:GQ:PL	0/1:32,35:67:99:903,0,710	9	0	1	0
chr7	124032238	124032238	T	C	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.A766G:p.I256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00309682352866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.03280	T	0.592	0.08161	T	0.394	0.34702	B	0.12	0.32230	B	.	.	.	.	0.905131	0.27622	N	0.81	0.20779	L	1.18	0.37746	T	0.3	0.04091	N	0.102	0.08506	-1.0447	0.15913	T	0.043	0.18451	T	9	0.08238995	0.13593	T	0.003097	0.06726	T	0.028	0.06331	0.306	0.27646	0.0884992946249	0.08302	0.5384612323208492	0.53771	.	.	0.549685418606	0.45813	T	0.019	0.15464	T	-0.165	0.25994	T	-0.474787	0.25003	T	0.396950924387161	0.28827	T	0.730627	0.34608	T	0.09667316	0.22774	0.14163347	0.33721	0.09667316	0.22774	0.14163347	0.33720	-1.938	0.02956	T	.	.	0.222	0.45323	B	.	.	2.108335	0.26829	17.25	0.91703689414627898	0.20998	0.47574	0.28013	N	AEFBCI	0.167188	0.29384	N	-0.287457512271222	0.29631	1.644968	-0.111154528697024	0.34940	2.015554	0.999416261887452	0.39577	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.43	4.26	0.49832	2.136000	0.41744	4.125000	0.41997	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1789:0.8211	9.465	0.37973	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	80.08	41	chr7	124032238	.	T	C	80.08	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.801;DP=967;ExcessHet=0.7463;FS=125.612;InbreedingCoeff=-0.1934;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.84;SOR=9.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,32:158:17:0|1:124032233_G_C:17,0,3523:124032233	7	0	3	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	0.05	1815.43	33	chr7	127584383	.	C	T	1815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.771;DP=494;ExcessHet=0;FS=2.047;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.701;SOR=0.762	GT:AD:DP:GQ:PL	0/1:74,72:146:99:1827,0,1888	9	0	1	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	0.05	923.43	34	chr7	127598540	.	C	T	923.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.89;DP=396;ExcessHet=0;FS=1.893;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.598;SOR=0.994	GT:AD:DP:GQ:PL	0/1:43,37:80:99:935,0,989	9	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.3889	3155.34	233	chr7	128479325	.	T	C	3155.34	.	AC=7;AF=0.389;AN=18;BaseQRankSum=3.39;DP=2112;ExcessHet=7.0302;FS=50.038;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.389;MQ=57.37;MQRankSum=-12.3;QD=2.18;ReadPosRankSum=-3.823;SOR=5.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,27:230:99:0|1:128479325_T_C:515,0,8443:128479325	2	0	7	1
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.4375	3209.13	233	chr7	128479326	.	G	C	3209.13	.	AC=7;AF=0.438;AN=16;BaseQRankSum=2.7;DP=2129;ExcessHet=7.0302;FS=50.038;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.5;MQ=57.39;MQRankSum=-12.3;QD=2.21;ReadPosRankSum=-3.844;SOR=5.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,27:230:99:0|1:128479325_T_C:515,0,8443:128479325	1	0	7	2
chr7	130310785	130310785	A	G	splicing	CPA4	NM_001163446:exon8:c.695-2A>G;NM_016352:exon9:c.794-2A>G	.	.	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407449	0.90339	D	0.347496	0.90218	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.618177	0.92583	32	0.99523437982700713	0.69407	0.99735	0.99069	D	AEFBI	.	.	.	1.14026924594135	0.98814	19.47492	0.98875741231052	0.98398	18.16935	0.999999884051802	0.74766	0.074636	0.01641	0	0.060609	0.00678	0	0.063197	0.01477	0	0.101684	0.03063	0	0.972872	0.75260	6.07	6.07	0.98675	8.709000	0.91087	11.155000	0.87468	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.378000	0.26290	1.0:0.0:0.0:0.0	15.81	0.78327	611	0.66908	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	385.43	34	chr7	130310785	.	A	G	385.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.212;DP=349;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.057;SOR=0.693	GT:AD:DP:GQ:PL	0/1:16,16:32:99:397,0,441	9	0	1	0
chr7	131445777	131445777	A	G	exonic	MKLN1	.	nonsynonymous SNV	MKLN1:NM_001321316:exon12:c.A778G:p.N260D,MKLN1:NM_013255:exon12:c.A1399G:p.N467D,MKLN1:NM_001145354:exon13:c.A1330G:p.N444D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0158621107532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466724898	6.271e-06	7.525e-06	6.927e-06	5.606e-06	0.0004	2.95e-06	2.14e-06	6.268e-05	2.586e-05	0	0	0	0	0	0.0004	6.353e-06	0	0	1.976e-05	1.971e-05	0	4.048e-05	4.413e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	0.511	0.08839	T	0.608	0.07741	T	0.514	0.37393	P	0.216	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.15	0.29295	L	0.09	0.61443	T	-1.46	0.35792	N	0.63	0.66959	-0.9719	0.36798	T	0.137	0.45394	T	10	0.36690748	0.53173	T	0.015862	0.36823	T	0.188	0.46444	0.45	0.51121	0.44851236055	0.44475	0.6535716706465415	0.65293	1.73630748658	0.90807	0.895734012127	0.95953	D	0.021416	0.53182	T	-0.0580923	0.43205	T	-0.321222	0.42441	T	0.934405863285065	0.60186	D	0.945205	0.79148	D	0.27105653	0.50176	0.17111407	0.39269	0.27105653	0.50176	0.17111407	0.39269	-3.649	0.18568	T	.	.	0.307	0.58428	B	.;.	.;.	4.839176	0.78995	27.0	0.99605865065845822	0.74516	0.98789	0.86875	D	AEFGBI	0.893179	0.83086	D	0.0906039314389284	0.46025	2.849387	0.249661564367499	0.52631	3.436599	0.99999999996735	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.14	5.14	0.70008	9.239000	0.94505	11.134000	0.86880	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.133	0.64798	875	0.30485	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1435.43	42	chr7	131445777	.	A	G	1435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.016;DP=437;ExcessHet=0;FS=4.791;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.768;SOR=0.381	GT:AD:DP:GQ:PL	0/1:53,58:111:99:1447,0,1418	9	0	1	0
chr7	131506642	131506642	C	T	exonic	PODXL	.	nonsynonymous SNV	PODXL:NM_005397:exon5:c.G1090A:p.G364S,PODXL:NM_001018111:exon6:c.G1186A:p.G396S	.	418	1103	1	0	0	1	0.000453104	.	.	YES	2096622	PODXL-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.007	0.00401752500499	0.0018	0.00139776	0.0003	0.0035	0	0.0001	0	5.994e-05	0	0	0.0003428	53	154602	rs140483735	0.0001	0.0001	0.0002	0.0001	0.0050	0.0001	0.0001	0.0043	0.0041	0.0050	0.0002	0	2.519e-05	0	0.0002	1.169e-05	0.0003	4.637e-05	0.0010	0.0010	0.0011	0.0009	0.0036	0.0009	0.0008	0.0031	0.0030	0.0036	0	0.0001	0	0.0002	0	0	2.94e-05	0.0009	0	0.794	0.03167	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.014651	0.01396	N	2.909340	1	0.08975	N	0	0.06538	N	2.15	0.19311	T	1.52	0.00719	N	0.051	0.02861	-1.0013	0.29545	T	0.017	0.06998	T	10	0.005776733	0.00129	T	0.004018	0.09556	T	0.007	0.00512	.	.	0.104622674875	0.10061	0.2745465590825715	0.27367	0.233320805752	0.25866	0.301492869854	0.10624	T	0.05971	0.31189	T	-0.710179	0.00032	T	-0.794689	0.02038	T	0.00356132255825551	0.00038	T	0.160884	0.01642	T	0.032901414	0.03403	0.038751148	0.03814	0.026347792	0.01680	0.033348482	0.02216	-1.512	0.01789	T	.	.	0.070	0.03625	B	.;.	.;.	-0.485016	0.01916	0.160	0.77325580157171248	0.11829	0.01104	0.04047	N	AEFDBHCI	0.030737	0.03152	N	-1.83895917030304	0.00457	0.01964655	-1.816267736849	0.00709	0.03155721	0.999986654255946	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.51	-1.38	0.08554	-1.115000	0.03401	-0.425000	0.09259	-1.808000	0.00615	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2219:0.4982:0.28	7.600	0.27240	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003021	0.000000	0.008152	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1395.43	44	chr7	131506642	.	C	T	1395.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.463;DP=472;ExcessHet=0;FS=3.015;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.989;SOR=0.725	GT:AD:DP:GQ:PL	0/1:79,62:141:99:1407,0,1914	9	0	1	0
chr7	142094407	142094407	C	T	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon61:c.C7216T:p.R2406C	.	448	1073	0	1	0	2	0.000931099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0835234683179	.	.	4.945e-05	0	0	0	0	9.903e-05	0	0	.	.	.	rs775218319	2.378e-05	2.641e-05	2.573e-05	2.18e-05	0.0004	1.696e-05	1.492e-05	6.709e-05	2.713e-05	0	9.768e-05	0	0	2.005e-05	0.0004	2.365e-05	1.734e-05	0	4.093e-05	4.704e-05	5.323e-05	2.8e-05	7.729e-05	1.769e-05	1.165e-05	2.957e-05	1.938e-05	0	0	6.853e-05	0	0	0	0	7.729e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.990365	0.81001	D	.	.	.	.	.	.	.	.	.	0.816	0.81162	-0.1326	0.79340	T	0.405	0.75508	T	5	0.7484448	0.75460	D	0.083523	0.74133	D	0.211	0.50185	.	.	0.487912462561	0.48422	.	.	.	.	.	.	.	.	.	.	0.159048	0.70112	D	-0.00931444	0.69729	D	0.54150664806366	0.34160	D	0.938606	0.76932	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.948	0.86648	P	.	.	4.827640	0.78691	26.9	0.99748860034282172	0.84077	0.90308	0.51381	D	AEFDBI	0.553919	0.56497	D	0.314410580054462	0.56888	3.854305	0.361328461033067	0.59192	4.095149	0.0120137416995839	0.12267	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.0	5.0	0.66209	2.914000	0.48495	.	.	0.596000	0.33519	0.991000	0.37257	1.000000	0.68203	0.325000	0.25087	0.0:1.0:0.0:0.0	17.427	0.87419	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4960.12	33	chr7	142094407	.	C	T	4960.12	.	AC=2;AF=0.1;AN=20;DP=459;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.63;SOR=0.955	GT:AD:DP:GQ:PL	1/1:0,152:152:99:4983,456,0	9	1	0	0
chr7	142752517	142752517	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon4:c.A541G:p.S181G	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1511	10	1	0	12	0.00395517	.	.	.	561570	Hereditary_pancreatitis|not_specified	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.0753464973085	7.7e-05	.	7.413e-05	9.61e-05	0	0	0	2.997e-05	0	0.0004	5.82e-05	9	154602	rs376907511	4.104e-05	4.173e-05	2.995e-05	5.225e-05	0.0010	3.244e-05	2.919e-05	0.0005	0.0003	5.974e-05	4.472e-05	0	0	0	0.0010	1.709e-05	0.0001	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.29029	T	0.064	0.45318	T	0.0	0.02946	B	0.002	0.06944	B	0.593804	0.05607	N	1.162530	1	0.08975	N	0.19	0.09125	N	-3.16	0.92996	D	-1.72	0.40850	N	0.232	0.26111	-0.4133	0.71605	T	0.589	0.85277	D	10	0.13569438	0.25820	T	0.075346	0.72265	D	0.206	0.49396	.	.	0.537635407634	0.53415	0.40445836689908227	0.40361	0.149514723267	0.16857	0.296687215567	0.09908	T	0.557898	0.85149	D	-0.0663308	0.41912	T	-0.333056	0.41127	T	0.108653396368027	0.13283	T	.	.	.	0.25545707	0.48579	0.27954334	0.53924	0.24048628	0.46952	0.1967778	0.43424	-6.089	0.47018	T	.	.	0.099	0.19760	B	.;.;.;.	.;.;.;.	0.651145	0.10196	6.936	0.8314732317320358	0.14567	0.02029	0.06086	N	AEFDBI	0.235813	0.35836	N	-1.48821086810172	0.01932	0.08483167	-1.59493380612052	0.01686	0.07657855	0.0125586916854028	0.12343	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	3.32	-5.04	0.02742	-0.953000	0.03987	.	.	-0.270000	0.06752	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.8109:0.0:0.1891:0.0	10.499	0.43983	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	5916.12	33	chr7	142752517	.	A	G	5916.12	.	AC=2;AF=0.1;AN=20;DP=1961;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=59.88;QD=29.58;SOR=1.033	GT:AD:DP:GQ:PL	1/1:0,200:202:99:5939,598,0	9	1	0	0
chr7	151187631	151187631	G	C	exonic	ASB10	.	nonsynonymous SNV	ASB10:NM_080871:exon1:c.C92G:p.S31C	Glaucoma 1, open angle, F	396	1125	1	0	0	1	0.000444247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0514428053826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214454118	7.936e-06	8.209e-06	7.091e-06	8.812e-06	0.0002	4.26e-06	3.11e-06	4.73e-06	3.45e-06	0	0	0	0	0	0.0002	9.355e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.04	0.50809	D	0.545	0.37995	P	0.242	0.38699	B	0.097902	0.02519	N	1.826310	1	0.08975	N	.	.	.	-0.38	0.69027	T	-1.58	0.38151	N	0.258	0.29197	-0.7776	0.56437	T	0.230	0.59620	T	9	0.16735628	0.31226	T	0.051443	0.64664	D	0.172	0.43662	0.521	0.62368	0.4018988957	0.39804	.	.	.	.	.	.	.	.	.	.	-0.136098	0.30513	T	-0.417786	0.31331	T	0.288890570402145	0.24543	T	0.425557	0.11413	T	.	.	.	.	.	.	.	.	-4.289	0.28023	T	.	.	0.078	0.06710	B	.	.	1.227648	0.16223	12.40	0.98460301739318523	0.41734	0.25080	0.22591	N	AEFBI	0.121820	0.23667	N	-0.377981273400016	0.26254	1.431523	-0.501004591343504	0.22127	1.200275	0.991417946025243	0.32481	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.67	1.51	0.22094	1.286000	0.32877	4.491000	0.43571	0.676000	0.76740	0.007000	0.17678	0.793000	0.26880	0.055000	0.15596	0.0:0.3697:0.6303:0.0	10.234	0.42447	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	4018.43	91	chr7	151187631	.	G	C	4018.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.38;DP=473;ExcessHet=0;FS=1.222;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=0.813;SOR=0.567	GT:AD:DP:GQ:PL	0/1:59,43:102:99:1096,0,1403	8	1	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	0.3	5577.98	367	chr7	152229940	.	A	G	5577.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.129;DP=2706;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=44.55;MQRankSum=0.883;QD=3.72;ReadPosRankSum=0.293;SOR=0.714	GT:AD:DP:GQ:PL	0/1:199,83:282:99:1411,0,6938	4	0	6	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	0.2	150.59	48	chr7	152235831	.	C	G	150.59	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.331;DP=743;ExcessHet=1.5895;FS=9.184;InbreedingCoeff=-0.2504;MLEAC=4;MLEAF=0.2;MQ=51.86;MQRankSum=-2.17;QD=0.55;ReadPosRankSum=-0.963;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,8:77:32:.:.:32,0,2758:.	6	0	4	0
chr8	6825326	6825326	C	G	exonic	XKR5	.	nonsynonymous SNV	XKR5:NM_207411:exon3:c.G266C:p.S89T	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.000599042	0.0014	0.0004	0.0009	0	0.0003	0.0023	0	0.0003	0.0008279	128	154602	rs201724060	0.0012	0.0012	0.0012	0.0012	0.0016	0.0011	0.0011	0.0013	0.0013	0.0003	0.0005	7.885e-05	0	0.0002	0.0016	0.0014	0.0011	0.0004	0.0012	0.0012	0.0015	0.0010	0.0020	0.0011	0.0010	0.0017	0.0016	0.0003	0	0.0020	0.0003	0	0	0.0034	0.0020	0.0019	0	.	.	.	0.327	0.18732	T	0.002	0.09854	B	0.005	0.11217	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.09772	.	.	.	.	.	.	.	0.0104478	0.00232	T	.	.	.	.	.	.	.	0.548400779561	0.54496	0.2500569914261264	0.24919	.	.	0.308889627457	0.11739	T	0.01168	0.10383	T	-0.472705	0.00818	T	-0.465014	0.26055	T	.	.	.	0.161484	0.01457	T	0.039555587	0.05482	0.08178392	0.18613	0.039555587	0.05482	0.08178392	0.18613	-3.684	0.19082	T	.	.	0.076	0.06069	B	.	.	0.194675	0.05804	2.245	0.41745482980808823	0.03032	0.00455	0.02200	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.980973224446877	0.30201	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.058706	0.01089	0	0.124705	0.25127	4.67	0.017	0.13433	0.239000	0.17800	0.864000	0.22254	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1297:0.2761:0.5942:0.0	6.125	0.19391	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	0.001520	0.005155	0.001359	0.002941	0.000000	0.000000	0.000000	0.000000	0.05	823.43	33	chr8	6825326	.	C	G	823.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.737;DP=363;ExcessHet=0;FS=4.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=-1.046;SOR=0.25	GT:AD:DP:GQ:PL	0/1:17,31:48:99:835,0,455	9	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4086.3	104	chr8	10609944	.	A	G	4086.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.723;DP=2045;ExcessHet=2.8389;FS=208.044;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=3.55;ReadPosRankSum=-0.301;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,36:205:99:0|1:10609943_C_T:211,0,6288:10609943	2	0	5	3
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	7877.1	171	chr8	10609948	.	C	T	7877.1	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.09;DP=2037;ExcessHet=4.5998;FS=302.386;InbreedingCoeff=-0.6667;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.66;ReadPosRankSum=1.74;SOR=12.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,79:211:99:0|1:10609943_C_T:1737,0,3671:10609943	3	0	3	4
chr8	10610079	10610079	-	CCTCTAACTGCACCCTCTTTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAAAGAGGGTGCAGTTAGAGG:p.E1340_G2392delinsGTKVIEGLQEKRVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	8.789e-06	6.041e-06	1.176e-05	5.369e-06	4.21e-06	3.05e-06	1.26e-06	8.5e-07	0	0	0.0001	0	0	0	5.369e-06	4.607e-05	0	1.663e-05	1.567e-05	1.612e-05	1.718e-05	8.941e-05	2.76e-06	1.03e-06	.	.	0	0	8.941e-05	0	0	0	0	0	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	38544.4	386	chr8	10610079	.	T	TCCTCTAACTGCACCCTCTTTTCTTGCAGCCCTTCTATTACTTTAGTCC	38544.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=3280;ExcessHet=0.3701;FS=2.475;InbreedingCoeff=0.1667;MLEAC=1;MLEAF=0.05;MQ=59.67;MQRankSum=-0.199;QD=23.56;ReadPosRankSum=2.69;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,102:240:99:.:.:12348,4618,3826:.	9	0	1	0
chr8	11331261	11331261	G	T	exonic	SLC35G5	.	nonsynonymous SNV	SLC35G5:NM_054028:exon1:c.G155T:p.G52V	.	421	1085	15	1	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.0170220095909	0.0005	0.00219649	0.0015	0.0005	0.0022	0	0	0.0017	0.0022	0.0022	0.0013777	213	154602	rs147745991	0.0013	0.0013	0.0011	0.0014	0.0256	0.0012	0.0012	0.0222	0.0209	0.0018	0.0031	0.0048	0	1.872e-05	0.0256	0.0009	0.0025	0.0030	0.0012	0.0012	0.0011	0.0013	0.0029	0.0011	0.0010	0.0022	0.0020	0.0005	0	0.0029	0.0046	0	0	0.0238	0.0010	0.0061	0.0025	0.0	0.91255	D	0.012	0.63918	D	0.993	0.65571	D	0.955	0.69585	D	0.000330	0.45700	D	0.000000	1	0.81001	D	2.005	0.54552	M	0.29	0.58897	T	-1.8	0.42384	N	0.317	0.35727	-0.9340	0.43545	T	0.139	0.45810	T	10	0.0106809735	0.00237	T	0.017022	0.38544	T	0.266	0.57999	.	.	0.486060746414	0.48238	0.6297074594361097	0.62904	0.434251463315	0.43557	0.510742008686	0.40327	T	0.03401	0.23149	T	-0.317284	0.07123	T	-0.232524	0.51526	T	0.154808677730932	0.17480	T	.	.	.	0.2908944	0.52076	0.35495916	0.61031	0.2908944	0.52076	0.35495916	0.61031	-3.893	0.22197	T	.	.	0.201	0.42520	B	.	.	3.283029	0.44992	22.0	0.98684135970257847	0.44667	0.51133	0.28825	D	AEFDBI	0.204244	0.33069	N	-0.152375965160027	0.35134	2.014203	-0.310186087749674	0.27768	1.543223	0.917422459706119	0.26541	0.421363	0.06395	0	0.514364	0.08380	0	0.514364	0.09456	0	0.664235	0.64389	0	.	.	0.34	0.34	0.15224	4.250000	0.58561	.	.	0.098000	0.17617	1.000000	0.71638	1.000000	0.68203	0.324000	0.25064	2.0E-4:0.0:0.9998:0.0	6.534	0.21541	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025641	0.010309	0.032609	0.050000	0.000000	0.017241	0.021605	0.019084	0.05	2018.43	71	chr8	11331261	.	G	T	2018.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.82;DP=844;ExcessHet=0;FS=3.325;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.74;MQRankSum=0.515;QD=13.64;ReadPosRankSum=0.769;SOR=0.446	GT:AD:DP:GQ:PL	0/1:73,75:148:99:2030,0,2185	9	0	1	0
chr8	17962121	17962121	A	G	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon15:c.A2410G:p.S804G,PCM1:NM_001352652:exon15:c.A2410G:p.S804G,PCM1:NM_001315507:exon16:c.A2410G:p.S804G,PCM1:NM_001315508:exon16:c.A2413G:p.S805G,PCM1:NM_001352634:exon16:c.A2410G:p.S804G,PCM1:NM_001352639:exon16:c.A2410G:p.S804G,PCM1:NM_001352640:exon16:c.A2413G:p.S805G,PCM1:NM_001352641:exon16:c.A2410G:p.S804G,PCM1:NM_001352644:exon16:c.A2410G:p.S804G,PCM1:NM_001352646:exon16:c.A2410G:p.S804G,PCM1:NM_001352649:exon16:c.A2413G:p.S805G,PCM1:NM_001352651:exon16:c.A2527G:p.S843G,PCM1:NM_001352654:exon16:c.A2410G:p.S804G,PCM1:NM_001352658:exon16:c.A2410G:p.S804G,PCM1:NM_006197:exon16:c.A2410G:p.S804G,PCM1:NM_001352632:exon17:c.A2527G:p.S843G,PCM1:NM_001352636:exon17:c.A2530G:p.S844G,PCM1:NM_001352637:exon17:c.A2527G:p.S843G,PCM1:NM_001352643:exon17:c.A2527G:p.S843G,PCM1:NM_001352655:exon17:c.A2410G:p.S804G,PCM1:NM_001352635:exon18:c.A2413G:p.S805G,PCM1:NM_001352638:exon18:c.A2527G:p.S843G,PCM1:NM_001352642:exon18:c.A2410G:p.S804G,PCM1:NM_001352645:exon18:c.A2410G:p.S804G,PCM1:NM_001352648:exon18:c.A2413G:p.S805G,PCM1:NM_001352653:exon18:c.A2410G:p.S804G,PCM1:NM_001352656:exon18:c.A2410G:p.S804G,PCM1:NM_001352657:exon18:c.A2410G:p.S804G,PCM1:NM_001352633:exon19:c.A2527G:p.S843G,PCM1:NM_001352650:exon19:c.A2527G:p.S843G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00349419692468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.25055	T	0.344	0.20745	T	.	.	.	.	.	.	0.123959	0.18899	N	0.615544	1	0.08975	N	.	.	.	3.45	0.33842	T	-1.73	0.41046	N	0.062	0.17278	-1.0570	0.12517	T	0.050	0.21339	T	10	0.070652425	0.10307	T	0.003494	0.07908	T	0.051	0.14325	0.122	0.02867	0.26169431596	0.25797	0.08217163870324999	0.08152	.	.	0.298138737679	0.10125	T	.	.	.	-0.277765	0.10906	T	-0.636767	0.09908	T	0.0455819948381863	0.04708	T	0.681032	0.28992	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01387	B	.;.;.;.	.;.;.;.	1.540773	0.19760	14.42	0.97461291883773926	0.34084	0.17449	0.19842	N	AEFDBIJ	0.053138	0.09549	N	-0.743915300584118	0.14800	0.740288	-0.715691337405069	0.16571	0.8771971	0.982556384511255	0.30417	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	-0.183	0.12631	1.276000	0.32760	2.164000	0.31003	0.756000	0.94297	0.085000	0.22462	0.001000	0.17328	0.769000	0.36481	0.4603:0.279:0.2607:0.0	4.971	0.13465	895	0.25842	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1587.43	41	chr8	17962121	.	A	G	1587.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.2;DP=559;ExcessHet=0;FS=1.781;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-1.188;SOR=0.697	GT:AD:DP:GQ:PL	0/1:119,79:198:99:1599,0,2936	9	0	1	0
chr8	23447844	23447844	T	C	exonic	ENTPD4	.	nonsynonymous SNV	ENTPD4:NM_001128930:exon4:c.A248G:p.N83S,ENTPD4:NM_004901:exon4:c.A248G:p.N83S	.	434	1074	13	1	0	15	0.00693481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	0.0028	0.00379393	0.0054	0.0008	0.0029	0.0001	0.0302	0.0050	0.0099	0.0041	0.0049158	760	154602	rs142458188	0.0048	0.0048	0.0047	0.0048	0.0068	0.0047	0.0046	0.0051	0.0045	0.0007	0.0047	0.0024	2.519e-05	0.0291	0.0068	0.0040	0.0049	0.0040	0.0051	0.0052	0.0039	0.0064	0.0042	0.0048	0.0047	0.0038	0.0036	0.0005	0	0.0039	0.0020	0	0.0358	0.0102	0.0042	0.0071	0.0025	0.519	0.08286	T	0.725	0.05256	T	0.002	0.09854	B	0.01	0.14941	B	0.000000	0.84330	N	0.117593	0.99542	0.42685	D	-0.805	0.01590	N	2.87	0.10386	T	-0.26	0.12661	N	0.131	0.12627	-0.9673	0.37754	T	0.009	0.03140	T	10	0.0025058389	0.00038	T	.	.	.	0.164	0.42212	.	.	0.223847106136	0.22009	0.1341201395512565	0.13336	0.0755080540532	0.08473	0.349559098482	0.17857	T	0.007928	0.25359	T	-0.706784	0.00033	T	-0.787482	0.02235	T	0.00219053248014786	0.00023	T	0.740726	0.35986	T	0.05279877	0.09900	0.04469123	0.05848	0.05279877	0.09900	0.04469123	0.05847	-2.111	0.04610	T	.	.	0.053	0.00264	B	.;.;.;.	.;.;.;.	1.188987	0.15801	12.11	0.90707489596299118	0.19958	0.36718	0.25598	N	AEFGBCI	0.124364	0.24039	N	-0.630456802520704	0.18033	0.9330396	-0.426323289753255	0.24227	1.325572	0.999986064151588	0.51787	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.7	3.34	0.37357	0.044000	0.13876	-0.138000	0.11547	0.665000	0.62972	0.181000	0.24076	0.723000	0.26366	0.998000	0.85391	0.0:0.2369:0.0:0.7631	7.595	0.27209	820	0.40914	.;.;.;.	.	.	.	.	rs142458188	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.004076	0.005848	0.000000	0.025862	0.003049	0.003788	0.05	982.43	33	chr8	23447844	.	T	C	982.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=405;ExcessHet=0;FS=4.159;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-1.708;SOR=1.145	GT:AD:DP:GQ:PL	0/1:61,37:98:99:994,0,1614	9	0	1	0
chr8	35722260	35722260	G	A	exonic	UNC5D	.	nonsynonymous SNV	UNC5D:NM_001322818:exon9:c.G1153A:p.V385I,UNC5D:NM_080872:exon9:c.G1168A:p.V390I	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00750973613324	0.0005	0.00199681	0.0014	0.0004	0.0002	0.0001	0.0002	0.0003	0	0.0085	0.0012613	195	154602	rs144971419	0.0007	0.0007	0.0005	0.0009	0.0080	0.0006	0.0006	0.0075	0.0073	0.0007	8.944e-05	0.0010	0.0001	3.744e-05	0.0014	0.0002	0.0005	0.0080	0.0006	0.0006	0.0005	0.0006	0.0093	0.0005	0.0004	0.0072	0.0064	0.0004	0.0022	6.535e-05	0.0012	0.0004	0	0.0034	0.0002	0.0005	0.0093	0.12	0.29554	T	0.503	0.11968	T	0.111	0.28960	B	0.011	0.20508	B	0.001235	0.39743	N	0.282195	0.792624	0.34406	D	0.035	0.08059	N	0.57	0.55090	T	-0.38	0.14782	N	0.194	0.30461	-1.0711	0.09173	T	0.048	0.20672	T	10	0.0043495297	0.00088	T	0.00751	0.19926	T	0.039	0.10176	.	.	0.0934897674506	0.08844	0.33941227648612665	0.33854	0.367662693662	0.38331	0.354192942381	0.18538	T	0.028156	0.20459	T	-0.496656	0.00597	T	-0.481483	0.24290	T	0.00709674218331917	0.00081	T	0.847115	0.53695	T	0.03348015	0.03576	0.035376087	0.02778	0.03348015	0.03576	0.035376087	0.02778	-4.252	0.28023	T	.	.	0.080	0.10497	B	.;.;.;.;.	.;.;.;.;.	1.335750	0.17414	13.15	0.98789758688554674	0.46269	0.70939	0.34800	D	AEFBI	0.133736	0.25349	N	-0.602852765581958	0.18857	0.9824567	-0.434579669683885	0.23990	1.311206	0.971338599254094	0.29278	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.564101	0.26826	0	.	.	5.71	3.9	0.44240	0.934000	0.28510	3.044000	0.36093	0.676000	0.76740	0.624000	0.27948	1.000000	0.68203	0.493000	0.28859	0.2267:0.0:0.7733:0.0	8.871	0.34472	606	0.67383	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.015152	0.05	1174.43	33	chr8	35722260	.	G	A	1174.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.766;DP=414;ExcessHet=0;FS=0.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.901;SOR=0.591	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1186,0,1226	9	0	1	0
chr8	37831533	37831533	C	T	exonic	ADGRA2	.	nonsynonymous SNV	ADGRA2:NM_032777:exon8:c.C1043T:p.T348I	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0512235864314	0.0011	0.000399361	0.0012	0.0003	0.0010	0	0	0.0018	0.0011	0.0009	0.001119	173	154602	rs147457253	0.0010	0.0010	0.0011	0.0010	0.0043	0.0010	0.0010	0.0030	0.0026	0.0002	0.0006	0.0182	0	0	0.0043	0.0007	0.0021	0.0006	0.0012	0.0012	0.0012	0.0012	0.0016	0.0011	0.0010	0.0011	0.0009	0.0002	0.0044	0.0016	0.0165	0	0	0.0034	0.0012	0.0019	0.0008	0.013	0.57480	D	0.006	0.70582	D	0.729	0.42602	P	0.316	0.41603	B	0.000336	0.45700	D	0.187642	0.821978	0.34790	D	.	.	.	0.65	0.52642	T	-3.02	0.65056	D	0.392	0.43320	-0.7414	0.58381	T	0.136	0.45068	T	10	0.008280575	0.00188	T	0.051224	0.64572	D	0.130	0.35528	.	.	0.40528724903	0.40140	0.7704096990166903	0.76989	0.296725836107	0.32059	0.705199956894	0.67897	T	0.519305	0.83159	D	-0.320103	0.06889	T	-0.298703	0.44862	T	0.0316346049031807	0.02247	T	0.682432	0.35288	T	0.16056825	0.36007	0.1787573	0.40566	0.16056825	0.36006	0.1787573	0.40565	-10.082	0.76566	D	.	.	0.472	0.63296	A	.;.	.;.	3.545688	0.49816	22.8	0.99665856841731271	0.78266	0.83437	0.42554	D	AEFDGBHCI	0.606206	0.59664	D	0.0945648589979406	0.46210	2.864853	0.194101572700792	0.49524	3.154488	0.999999999949071	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.22	4.34	0.51267	4.293000	0.58834	4.807000	0.45013	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.9257:0.0:0.0743	13.808	0.62734	783	0.47268	.;GPCR, family 2, extracellular hormone receptor 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	0.005040	0.010101	0.002717	0.008772	0.000000	0.000000	0.003049	0.003788	0.05	992.43	37	chr8	37831533	.	C	T	992.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.435;DP=423;ExcessHet=0;FS=0.742;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-0.1;SOR=0.829	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1004,0,1379	9	0	1	0
chr8	37936837	37936837	A	G	exonic	GOT1L1	.	nonsynonymous SNV	GOT1L1:NM_152413:exon6:c.T646C:p.C216R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.430	0.0539841360733	0.0003	.	3.344e-05	0	0	0	0	4.539e-05	0	6.131e-05	2.59e-05	4	154602	rs369438333	4.113e-05	4.173e-05	4.635e-05	3.586e-05	0.0002	3.251e-05	2.926e-05	6.251e-05	4.761e-05	0	0	0	0	0	0.0002	3.696e-05	0.0001	0.0001	3.285e-05	3.283e-05	6.423e-05	0	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.018	0.50676	D	0.318	0.19246	T	0.168	0.28654	B	0.121	0.32300	B	0.996089	0.07997	N	0.997757	0.954514	0.37881	D	2.08	0.57402	M	-2.66	0.90272	D	-0.98	0.25986	N	0.477	0.51226	-0.3781	0.72711	T	0.493	0.80757	T	10	0.3511848	0.51974	T	0.053984	0.65682	D	0.430	0.73662	.	.	0.565574550146	0.56221	0.7225538807560067	0.72199	0.016936993713	0.01637	0.282846182585	0.07892	T	0.241177	0.60965	T	-0.0794848	0.39799	T	-0.148351	0.59389	T	0.290185958147049	0.24597	T	0.558444	0.19458	T	0.3033924	0.53207	0.29298207	0.55327	0.3033924	0.53207	0.29298207	0.55326	-3.468	0.15987	T	.	.	0.226	0.45822	B	.	.	1.575192	0.20165	14.62	0.93610414681438414	0.23473	0.05104	0.10906	N	AEFBI	0.061063	0.11646	N	-0.57325508904221	0.19761	1.036712	-0.550394699239572	0.20796	1.122074	0.80471893925318	0.24248	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	-1.5	0.08233	1.210000	0.31975	0.678000	0.20656	0.734000	0.85920	0.008000	0.17931	0.000000	0.08366	0.984000	0.60418	0.2975:0.1772:0.1396:0.3857	0.342	0.00312	740	0.53092	Aminotransferase, class I/classII	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1272.43	35	chr8	37936837	.	A	G	1272.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.265;DP=415;ExcessHet=0;FS=6.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.135;SOR=0.74	GT:AD:DP:GQ:PL	0/1:43,52:95:99:1284,0,1125	9	0	1	0
chr8	38988000	38988000	G	C	exonic	HTRA4	.	nonsynonymous SNV	HTRA4:NM_153692:exon9:c.G1333C:p.D445H	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.751	0.258428463521	0.0005	0.00159744	0.0018	9.724e-05	0.0010	0	0.0002	0.0015	0.0045	0.0061	0.0015524	240	154602	rs139374339	0.0011	0.0011	0.0009	0.0013	0.0067	0.0011	0.0011	0.0063	0.0061	0.0001	0.0007	0	2.524e-05	0.0002	0.0033	0.0008	0.0011	0.0067	0.0009	0.0009	0.0008	0.0011	0.0075	0.0008	0.0008	0.0055	0.0049	0.0002	0	0.0022	0	0	0	0.0034	0.0009	0.0009	0.0075	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000021	0.55875	D	0.066400	1	0.81001	D	3.08	0.87267	M	-1.9	0.84628	D	-5.24	0.83967	D	0.638	0.65074	0.741	0.93682	D	0.807	0.93468	D	10	0.024195105	0.00657	T	0.258428	0.89407	D	0.751	0.91456	.	.	0.978025239274	0.97778	0.7825490449195445	0.78205	0.579290574343	0.53809	0.493719756603	0.37955	T	0.09733	0.40005	T	0.10995	0.65347	D	0.38791	0.91709	D	0.142907733418972	0.16523	T	0.586841	0.21439	T	0.8243261	0.85513	0.8029024	0.88452	0.8243261	0.85515	0.8029024	0.88453	-9.493	0.70815	D	.	.	0.361	0.57274	A	.	.	4.093954	0.60998	24.3	0.99404666347589465	0.62981	0.98821	0.87296	D	AEFBI	0.881359	0.80865	D	0.869660193267806	0.90197	10.29553	0.789693061423875	0.89066	9.825581	0.999999999999984	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.645665	0.59343	0	.	.	6.07	6.07	0.98675	8.340000	0.89951	8.662000	0.77976	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.239000	0.22975	0.0:0.0:1.0:0.0	19.431	0.94757	651	0.62880	PDZ domain|PDZ domain|PDZ 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	0.003528	0.005102	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.05	581.43	33	chr8	38988000	.	G	C	581.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.558;DP=371;ExcessHet=0;FS=2.067;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=0.961;SOR=0.907	GT:AD:DP:GQ:PL	0/1:43,25:68:99:593,0,1131	9	0	1	0
chr8	41933029	41933029	T	C	exonic	KAT6A	.	nonsynonymous SNV	KAT6A:NM_006766:exon17:c.A5191G:p.I1731V	Mental retardation, autosomal dominant 32, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2930703	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.0182294830685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.011	0.64786	D	0.493	0.37004	P	0.155	0.34417	B	0.000000	0.84330	D	0.000000	0.796295	0.29167	N	0.345	0.11182	N	0.19	0.60236	T	-0.65	0.18877	N	0.312	0.35194	-0.9516	0.40695	T	0.113	0.40284	T	10	0.1927948	0.35022	T	0.018229	0.40224	T	0.104	0.29647	0.193	0.10437	0.316918214084	0.31302	0.3802453629277638	0.37939	0.155443927998	0.17544	0.660066008568	0.61419	T	0.118948	0.44013	T	-0.0652942	0.42077	T	-0.331567	0.41295	T	0.381361643360282	0.28235	T	0.643236	0.25495	T	0.32590756	0.55134	0.2335678	0.48550	0.32590756	0.55134	0.2335678	0.48548	-2.903	0.09173	T	.	.	0.228	0.51165	B	.;.;.	.;.;.	3.078442	0.41403	21.3	0.90021567682180137	0.19310	0.92128	0.55007	D	AEFDBI	0.253752	0.37319	N	-0.011141991918475	0.41349	2.471799	0.163433275852573	0.47858	3.009826	0.999387545186418	0.39415	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	2.392000	0.44087	3.457000	0.38487	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.846	0.78673	506	0.75555	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2908.43	33	chr8	41933029	.	T	C	2908.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.04;DP=585;ExcessHet=0;FS=0.443;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.989;SOR=0.734	GT:AD:DP:GQ:PL	0/1:156,118:274:99:2920,0,3909	9	0	1	0
chr8	49075160	49075160	T	G	exonic	PPDPFL	.	nonsynonymous SNV	PPDPFL:NM_001256596:exon5:c.T242G:p.M81R,PPDPFL:NM_001256597:exon5:c.T242G:p.M81R	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.000541215822055	0.0031	0.000998403	0.0024	0.0012	0.0014	0	0.0018	0.0035	0.0045	0.0007	0.0023932	370	154602	rs180910379	0.0033	0.0033	0.0033	0.0033	0.0040	0.0033	0.0032	0.0039	0.0039	0.0010	0.0018	0.0001	2.519e-05	0.0013	0.0024	0.0040	0.0026	0.0009	0.0026	0.0026	0.0028	0.0024	0.0041	0.0024	0.0023	0.0037	0.0035	0.0006	0.0099	0.0032	0.0003	0	0.0021	0	0.0041	0.0019	0.0010	0.015	0.52492	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.19	0.04947	N	0.096	0.07673	-1.0261	0.21723	T	0.027	0.11441	T	4	0.005693257	0.00126	T	5.41E-4	0.00196	T	0.094	0.27141	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.605261	0.00135	T	-0.641789	0.09539	T	0.00610738012166533	0.00067	T	0.214779	0.02659	T	.	.	.	.	.	.	.	.	-2.243	0.04254	T	.	.	0.120	0.24867	B	.;.	.;.	0.687930	0.10564	7.273	0.30085421067863383	0.01628	0.01882	0.05788	N	AEFI	0.040430	0.06014	N	-1.07781643229902	0.07054	0.3265441	-1.33318348274486	0.04008	0.1881722	0.088683850081247	0.16066	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.66	-7.23	0.01331	-0.040000	0.12056	-2.989000	0.03163	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1321:0.2911:0.3035:0.2733	1.480	0.02288	700	0.57880	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2100.43	41	chr8	49075160	.	T	G	2100.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.94;DP=525;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=1.48;SOR=0.773	GT:AD:DP:GQ:PL	0/1:109,90:199:99:2112,0,2528	9	0	1	0
chr8	54629269	54629269	C	T	exonic	RP1	.	nonsynonymous SNV	RP1:NM_006269:exon4:c.C5387T:p.T1796M	Retinitis pigmentosa 1, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	992878	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.00756059828165	.	.	1.675e-05	0	0	0.0001	0	0	0	6.13e-05	1.29e-05	2	154602	rs764959789	2.121e-05	2.121e-05	1.906e-05	2.338e-05	0.0002	1.52e-05	1.325e-05	4.581e-05	3.274e-05	2.988e-05	0	0	2.52e-05	0	0.0002	1.709e-05	1.656e-05	9.281e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.102	0.38450	T	0.349	0.33622	B	0.125	0.32635	B	0.201882	0.03325	N	1.642690	1	0.08975	N	1.95	0.52479	M	2.02	0.21119	T	-1.35	0.33598	N	0.14	0.13911	-1.0179	0.24398	T	0.036	0.15726	T	10	0.042746633	0.03053	T	0.007561	0.20060	T	0.101	0.28911	.	.	0.0920862733494	0.08535	0.195580500468587	0.19475	0.151306516326	0.17079	0.264977604151	0.05498	T	0.062162	0.31843	T	-0.421952	0.01662	T	-0.662354	0.08108	T	0.064061626791954	0.07792	T	0.586841	0.21439	T	0.03597884	0.04338	0.058614284	0.10860	0.03597884	0.04337	0.058614284	0.10860	-4.269	0.27740	T	.	.	0.095	0.15115	B	.	.	1.180498	0.15708	12.05	0.97204290329423271	0.32824	0.28297	0.23515	N	AEFDGBCIJ	0.195957	0.32296	N	-1.57280265144034	0.01406	0.06130321	-1.69561746619923	0.01157	0.05203659	0.999999998839142	0.74766	0.568482	0.32641	0	0.547309	0.14657	0	0.573078	0.19857	0	0.662026	0.63922	0	.	.	5.93	-7.18	0.01354	0.189000	0.16845	-0.146000	0.11468	-0.898000	0.02344	0.000000	0.06391	0.000000	0.08366	0.391000	0.26581	0.1497:0.3819:0.3642:0.1042	7.039	0.24190	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2467.43	99	chr8	54629269	.	C	T	2467.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.929;DP=875;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.922;SOR=0.702	GT:AD:DP:GQ:PL	0/1:121,103:224:99:2479,0,3025	9	0	1	0
chr8	69629590	69629590	G	A	exonic	SULF1	.	nonsynonymous SNV	SULF1:NM_001128204:exon18:c.G2195A:p.R732Q,SULF1:NM_001128206:exon18:c.G2195A:p.R732Q,SULF1:NM_001128205:exon19:c.G2195A:p.R732Q,SULF1:NM_015170:exon19:c.G2195A:p.R732Q	.	404	1111	7	0	0	7	0.00314042	.	.	.	723178	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.125	0.00741471179335	0.0002	0.000599042	0.0007	0	0.0002	0	0	0.0004	0	0.0036	0.0006339	98	154602	rs199542001	0.0004	0.0004	0.0003	0.0005	0.0039	0.0004	0.0004	0.0035	0.0034	0	0.0003	0.0042	0	0	0.0012	6.565e-05	0.0007	0.0039	0.0005	0.0005	0.0004	0.0006	0.0037	0.0004	0.0004	0.0024	0.0020	0	0	0.0018	0.0052	0	0	0	8.821e-05	0.0019	0.0037	0.185	0.21550	T	0.172	0.43344	T	0.044	0.21686	B	0.004	0.10090	B	0.000898	0.41231	D	0.198136	0.99982	0.49512	D	2.435	0.70606	M	1.89	0.23688	T	-2.31	0.51319	N	0.59	0.61596	-1.0920	0.05207	T	0.066	0.27260	T	10	0.0071305335	0.00162	T	0.007415	0.19657	T	0.125	0.34456	.	.	0.302481332339	0.29867	0.5744858866589331	0.57377	0.461733961732	0.45710	0.660630345345	0.61500	T	0.291624	0.66437	T	-0.380878	0.03076	T	-0.321671	0.42391	T	0.08421851722409	0.10518	T	0.941106	0.79334	D	0.13173449	0.30697	0.11051596	0.26649	0.13173449	0.30697	0.11051596	0.26649	-7.79	0.59630	D	.	.	0.177	0.46109	B	.;.;.;.;.	.;.;.;.;.	3.559955	0.50089	22.9	0.99921551528046004	0.98787	0.95588	0.65322	D	AEFDGBI	0.631166	0.61224	D	-0.0324083859905615	0.40391	2.397884	0.105600365024078	0.44834	2.757597	0.999999999507483	0.74766	0.718356	0.82227	0	0.610034	0.51514	0	0.645312	0.48771	0	0.553173	0.17726	1	.	.	4.62	4.62	0.56946	4.876000	0.62772	11.696000	0.94428	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.656	0.88081	905	0.23532	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.007576	0.05	996.43	34	chr8	69629590	.	G	A	996.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=403;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.402;SOR=0.84	GT:AD:DP:GQ:PL	0/1:47,41:88:99:1008,0,1052	9	0	1	0
chr8	85250939	85250939	T	C	splicing	CA13	NM_198584:exon2:c.235+2T>C	.	.	.	.	.	.	.	.	.	.	0.9999	0.898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.657e-05	0	8.649e-05	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs767376724	2.738e-06	2.736e-06	0	5.504e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.8e-06	0	1.16e-05	6.587e-06	6.573e-06	1.287e-05	0	6.563e-05	0	0	.	.	0	0	6.563e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15527	0.69761	D	-0.014742	0.69375	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.736023	0.76327	26.5	0.97819436882980026	0.36181	0.99381	0.95289	D	AEFI	.	.	.	0.860414606237816	0.89692	10.078	0.653495242298954	0.78872	6.964331	0.999974726514976	0.50053	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.057018	0.00518	0	0.826211	0.49445	5.41	4.26	0.49832	4.785000	0.62110	7.794000	0.68965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.0733:0.0:0.9267	10.954	0.46558	782	0.47442	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1278.43	34	chr8	85250939	.	T	C	1278.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.232;DP=425;ExcessHet=0;FS=0.802;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.123;SOR=0.558	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1290,0,1698	9	0	1	0
chr8	86576035	86576055	TTTATCTTCATTTTCTTTTTG	-	exonic	CNGB3	.	nonframeshift deletion	CNGB3:NM_019098:exon18:c.2179_2199del:p.Q727_K733del	Achromatopsia 3, Autosomal recessive;Macular degeneration, juvenile, Autosomal recessive	3	1517	2	0	0	2	0.000658762	.	.	.	612831	Achromatopsia|Severe_early-childhood-onset_retinal_dystrophy|not_provided|not_specified|Achromatopsia_3	Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300,Orphanet:49382	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0740	.	0.0009	0.0075	0.0003	0.0014	0	0.0002	0.0011	0.0004	3.84e-05	1	26028	rs746549330	0.0004	0.0004	0.0004	0.0004	0.0070	0.0003	0.0003	0.0062	0.0059	0.0070	0.0006	3.835e-05	0.0013	3.75e-05	0.0005	0.0001	0.0009	0.0002	0.0027	0.0028	0.0028	0.0027	0.0090	0.0025	0.0024	0.0082	0.0079	0.0090	0	0.0012	0	0.0006	0	0.0034	0.0001	0.0052	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	789.39	34	chr8	86576034	.	CTTTATCTTCATTTTCTTTTTG	C	789.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.059;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.55;ReadPosRankSum=0.461;SOR=0.515	GT:AD:DP:GQ:PL	0/1:15,20:35:99:801,0,564	9	0	1	0
chr8	94940181	94940186	TCTTCT	-	exonic	TP53INP1	.	nonframeshift deletion	TP53INP1:NM_001135733:exon3:c.147_152del:p.E51_E52del,TP53INP1:NM_033285:exon3:c.147_152del:p.E51_E52del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.572e-05	0.0001	0	0	0	3.08e-05	0	0	1.94e-05	3	154602	rs767017254	1.51e-05	2.531e-05	1.502e-05	1.517e-05	0.0009	9.88e-06	8.44e-06	0.0003	0.0002	0	0	0	2.521e-05	0	0.0009	1.173e-05	1.662e-05	2.324e-05	1.973e-05	1.971e-05	0	4.041e-05	2.942e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.416e-05	0	0	0	0	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	787.39	33	chr8	94940180	.	CTCTTCT	C	787.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.582;DP=385;ExcessHet=0;FS=2.377;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0;SOR=0.393	GT:AD:DP:GQ:PL	0/1:32,23:55:99:799,0,1255	9	0	1	0
chr8	99965340	99965340	G	A	exonic	RGS22	.	stopgain	RGS22:NM_001286693:exon22:c.C3067T:p.R1023X,RGS22:NM_001286692:exon24:c.C3574T:p.R1192X,RGS22:NM_015668:exon24:c.C3610T:p.R1204X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.513e-05	0	0	0.0001	0	3.02e-05	0	0	1.94e-05	3	154602	rs766663457	6.854e-06	6.841e-06	6.821e-06	6.888e-06	2.991e-05	3.47e-06	2.53e-06	1.95e-06	1.28e-06	2.991e-05	2.238e-05	3.83e-05	0	0	0	5.407e-06	1.659e-05	0	1.314e-05	1.313e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	2.407e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.010817	0.29776	N	0.215298	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.255	0.29081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573999	0.96680	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.;.	High;.;.;.;.	8.500472	0.97643	37	0.99609958986467551	0.74753	0.87942	0.47660	D	AEFI	0.126348	0.24325	N	0.607370843396743	0.73641	5.999294	0.401956673850274	0.61686	4.372343	0.0545846436258002	0.14981	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.11	4.11	0.47350	1.540000	0.35721	4.901000	0.45859	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.070000	0.16646	0.0:0.0:1.0:0.0	12.223	0.53753	0	0.99858	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	955.43	35	chr8	99965340	.	G	A	955.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.839;DP=383;ExcessHet=0;FS=0.873;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.164;SOR=0.836	GT:AD:DP:GQ:PL	0/1:36,39:75:99:967,0,803	9	0	1	0
chr8	100141112	100141112	G	A	exonic	FBXO43	.	nonsynonymous SNV	FBXO43:NM_001029860:exon2:c.C1142T:p.S381L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00656568763253	.	.	8.29e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs770494083	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.319e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	0	2.319e-05	1.315e-05	1.313e-05	2.57e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.614	0.05404	T	0.618	0.07493	T	0.001	0.07471	B	0.001	0.04355	B	0.874786	0.08798	N	0.944335	1	0.08975	N	-0.44	0.02835	N	1.6	0.28604	T	-0.52	0.16187	N	0.06	0.03175	-0.9707	0.37052	T	0.016	0.06473	T	10	0.04589349	0.03714	T	0.006566	0.17301	T	0.116	0.32463	0.257	0.19845	0.213573922156	0.20996	0.04191255652011247	0.04136	0.0696468571568	0.07798	0.248401492834	0.03601	T	0.001695	0.01120	T	-0.479095	0.00748	T	-0.743816	0.03732	T	0.0202713996526375	0.00727	T	0.726327	0.34071	T	0.034460697	0.03870	0.04526039	0.06049	0.034460697	0.03870	0.04526039	0.06049	-4.235	0.27255	T	.	.	0.086	0.10497	B	.	.	0.655293	0.10239	6.974	0.41382917817887493	0.02982	0.02914	0.07718	N	AEFBI	0.053890	0.09750	N	-1.2173728182861	0.04748	0.214936	-1.09175547524237	0.07862	0.384146	0.997113422617124	0.35288	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.31	0.404	0.15574	0.395000	0.20576	1.049000	0.23621	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.847000	0.40026	0.5699:0.142:0.2881:0.0	5.909	0.18258	0	0.99858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2117.43	34	chr8	100141112	.	G	A	2117.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.403;DP=531;ExcessHet=0;FS=1.775;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.914;SOR=0.732	GT:AD:DP:GQ:PL	0/1:101,90:191:99:2129,0,2513	9	0	1	0
chr8	109293385	109293385	T	C	exonic	NUDCD1	.	nonsynonymous SNV	NUDCD1:NM_001128211:exon4:c.A512G:p.Y171C,NUDCD1:NM_032869:exon4:c.A599G:p.Y200C	.	435	1085	1	1	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0104931334023	0.0004	0.000199681	0.0004	0.0005	0.0005	0	0.0003	0.0005	0	0.0004	0.0004981	77	154602	rs143861307	0.0010	0.0010	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0011	0.0002	0.0004	0	0	0.0002	0.0012	0.0011	0.0012	0.0004	0.0006	0.0006	0.0007	0.0006	0.0011	0.0005	0.0005	0.0009	0.0008	0.0003	0	0.0005	0	0	9.43e-05	0	0.0011	0.0009	0.0002	0.152	0.24661	T	0.173	0.30143	T	0.614	0.48103	P	0.243	0.47596	B	0.002448	0.36537	N	0.305502	0.872063	0.35582	D	0.895	0.22405	L	2.25	0.17761	T	-2.12	0.48184	N	0.243	0.27673	-1.0505	0.14258	T	0.036	0.15596	T	10	0.06991866	0.10101	T	0.010493	0.27088	T	0.089	0.25827	.	.	0.346085882481	0.34212	0.4701788110986716	0.46936	0.137440798774	0.15499	0.400508612394	0.25139	T	0.011996	0.10618	T	-0.445566	0.01199	T	-0.437429	0.29097	T	0.0339865527767989	0.02635	T	0.875013	0.58582	D	0.10515926	0.24863	0.09678163	0.23008	0.10515926	0.24863	0.09678163	0.23008	-3.709	0.19747	T	.	.	0.061	0.01960	B	.;.	.;.	2.175300	0.27721	17.56	0.99040311473246412	0.51006	0.70138	0.34467	D	ALL	0.378925	0.46214	N	0.0376852363802117	0.43577	2.648	0.0850029565103844	0.43792	2.673823	0.999989038412076	0.51787	0.730579	0.87903	0	0.688494	0.66719	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.93	2.07	0.26004	1.245000	0.32393	-0.133000	0.11598	0.665000	0.62972	1.000000	0.71638	0.490000	0.25148	0.999000	0.91618	0.2427:0.0665:0.0:0.6908	6.438	0.21035	686	0.59327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	969.43	38	chr8	109293385	.	T	C	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.295;SOR=0.693	GT:AD:DP:GQ:PL	0/1:39,39:78:99:981,0,908	9	0	1	0
chr8	124451696	124451696	G	C	exonic	TRMT12	.	nonsynonymous SNV	TRMT12:NM_017956:exon1:c.G769C:p.G257R	.	413	1073	35	1	0	37	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0009	0.00399361	0.0045	0.0002	0.0009	0	0	0.0009	0.0066	0.0285	0.0038809	600	154602	rs148858836	0.0020	0.0020	0.0012	0.0028	0.0253	0.0019	0.0019	0.0244	0.0241	0.0003	0.0010	0.0015	0	1.872e-05	0.0092	0.0004	0.0024	0.0253	0.0014	0.0014	0.0009	0.0019	0.0237	0.0012	0.0012	0.0201	0.0188	9.624e-05	0	0.0014	0.0012	0	0	0.0068	0.0008	0.0047	0.0237	0.387	0.10945	T	0.787	0.04234	T	0.277	0.31978	B	0.292	0.40739	B	0.099600	0.19926	N	0.571867	0.99991	0.19694	N	1.065	0.27018	L	1.13	0.38556	T	0.73	0.02068	N	0.183	0.19861	-1.0247	0.22181	T	0.105	0.38366	T	10	0.0047546923	0.00100	T	.	.	.	0.097	0.27909	.	.	0.082315109003	0.07666	0.6696233123562838	0.66900	0.328560466209	0.34964	0.59677696228	0.52450	T	0.002738	0.02136	T	-0.452658	0.01090	T	-0.402716	0.33068	T	0.0453637498981926	0.04668	T	0.946005	0.79398	D	0.18428667	0.39737	0.17261861	0.39530	0.18428667	0.39737	0.17261861	0.39530	-4.047	0.24504	T	.	.	0.087	0.10979	B	.	.	3.296526	0.45235	22.1	0.97430559167786401	0.33926	0.58537	0.30668	D	AEFGBCI	0.274209	0.38945	N	0.0604140368447166	0.44623	2.732964	0.196258597748989	0.49640	3.164913	0.999998147199328	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.66	4.77	0.60425	3.574000	0.53608	4.972000	0.46406	0.676000	0.76740	0.907000	0.31601	1.000000	0.68203	0.954000	0.50415	0.0813:0.0:0.9187:0.0	13.294	0.59724	626	0.65439	SAM-dependent methyltransferase TRM5/TYW2-type|SAM-dependent methyltransferase TRM5/TYW2-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	0.009567	0.005051	0.004076	0.011696	0.000000	0.008621	0.003049	0.030303	0.05	2470.43	33	chr8	124451696	.	G	C	2470.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.275;DP=579;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.209;SOR=0.696	GT:AD:DP:GQ:PL	0/1:114,106:220:99:2482,0,2948	9	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	.	.	.	.	.	.	.	.	0.15	517.53	161	chr8	132010871	.	G	C	517.53	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.686;DP=1526;ExcessHet=0.7463;FS=211.335;InbreedingCoeff=-0.1791;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=0.715;SOR=11.704	GT:AD:DP:GQ:PL	0/1:121,55:185:99:190,0,1504	7	0	3	0
chr8	143269479	143269479	A	G	exonic	GLI4	.	nonsynonymous SNV	GLI4:NM_138465:exon2:c.A83G:p.Q28R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00384616386772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.22138	T	0.127	0.35082	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999971	0.18612	N	.	.	.	3.34	0.06063	T	-1.57	0.66206	N	0.04	0.02861	-0.9040	0.47561	T	0.010	0.03719	T	9	0.055799007	0.06155	T	0.003846	0.08992	T	0.041	0.10877	0.22	0.14224	0.152612264143	0.14878	0.04357408691224846	0.04302	0.468257477009	0.46179	0.376539081335	0.21765	T	0.002171	0.01575	T	-0.338578	0.05488	T	-0.72412	0.04599	T	0.0721366364795119	0.08947	T	0.447055	0.12542	T	0.06499735	0.13846	0.04931358	0.07511	0.06499735	0.13845	0.04931358	0.07510	-3.959	0.23188	T	.	.	0.101	0.17488	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.754305	0.11237	7.870	0.96678964915438559	0.30693	0.02131	0.06287	N	AEFGBHCI	0.035871	0.04686	N	-0.868596567338932	0.11594	0.5604123	-0.798539370507783	0.14531	0.7597105	0.999998664114163	0.74766	0.660377	0.49826	0	0.672317	0.65289	0	0.723109	0.80598	0	0.592323	0.36904	0	.	.	4.1	1.62	0.22817	-0.017000	0.12529	.	.	0.756000	0.94297	0.001000	0.13787	0.623000	0.25826	0.852000	0.40310	0.6831:0.2066:0.1103:0.0	4.214	0.09982	982	0.03397	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	946.43	39	chr8	143269479	.	A	G	946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.612;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.985;SOR=0.779	GT:AD:DP:GQ:PL	0/1:33,41:74:99:958,0,763	9	0	1	0
chr8	143316030	143316030	A	G	exonic	TOP1MT	.	nonsynonymous SNV	TOP1MT:NM_001258447:exon11:c.T1133C:p.F378S,TOP1MT:NM_052963:exon11:c.T1427C:p.F476S,TOP1MT:NM_001258446:exon12:c.T1133C:p.F378S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.0117431167847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41915	D	0.037	0.51737	D	0.999	0.77913	D	0.961	0.70482	D	0.000222	0.47286	U	0.000000	1	0.81001	D	2.96	0.85114	M	0.94	0.43672	T	-4.9	0.81514	D	0.738	0.73826	-0.4221	0.71323	T	0.297	0.66877	T	10	0.7891989	0.78512	D	0.011743	0.29664	T	0.307	0.62838	0.497	0.58678	0.624741333878	0.62169	0.31637540148418153	0.31550	0.979302735687	0.73680	0.579022407532	0.49948	T	0.519791	0.83185	D	0.0691592	0.60746	T	-0.138434	0.60253	T	0.992807984352112	0.83385	D	0.979882	0.93166	D	0.40344724	0.60971	0.3766681	0.62784	0.40344724	0.60971	0.3766681	0.62784	-10.01	0.73972	D	.	.	0.215	0.52351	B	.;.;.;.	.;.;.;.	3.709012	0.52937	23.3	0.99688152044638778	0.79708	0.89539	0.50068	D	AEFDGBI	0.657220	0.62893	D	0.298010785129917	0.56047	3.76902	0.0604746454836407	0.42579	2.577986	0.999948938344507	0.47345	0.718356	0.82227	0	0.643519	0.57511	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	3.37	3.37	0.37692	4.752000	0.61873	.	.	0.681000	0.82415	1.000000	0.71638	0.952000	0.29052	0.005000	0.06747	1.0:0.0:0.0:0.0	11.279	0.48415	976	0.04745	DNA topoisomerase I, catalytic core, eukaryotic-type|DNA topoisomerase I, eukaryotic-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	.	.	.	.	.	.	.	.	0.05	2171.43	35	chr8	143316030	.	A	G	2171.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.994;DP=597;ExcessHet=0;FS=1.123;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.352;SOR=0.793	GT:AD:DP:GQ:PL	0/1:102,88:190:99:2183,0,2561	9	0	1	0
chr8	143858184	143858184	G	A	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.C15070T:p.R5024C	.	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782565047	2.26e-05	3.625e-05	2.181e-05	2.34e-05	0.0009	1.612e-05	1.418e-05	0.0003	0.0002	0	2.238e-05	0	0	0	0.0009	2.429e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.997728	0.44134	D	.	.	.	.	.	.	.	.	.	0.295	0.33360	0.531	0.90981	D	0.707	0.89940	D	9	0.35666573	0.52400	T	0.061408	0.68320	D	.	.	.	.	0.677981630403	0.67524	0.4812184297313549	0.48041	.	.	0.509471178055	0.40147	T	.	.	.	0.0403664	0.57095	T	0.120531	0.78270	D	0.981123626232147	0.73735	D	0.951405	0.81464	D	0.24022305	0.46922	0.20380035	0.44474	0.24022305	0.46922	0.20380035	0.44473	-10.408	0.76317	D	.	.	0.695	0.72749	P	.;.	.;.	4.931106	0.81297	27.5	0.99931897384950674	0.99439	0.98328	0.81675	D	AEFGBI	.	.	.	0.862199369215263	0.89792	10.11925	0.775917995911619	0.88073	9.447602	0.999998538071726	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	5.06	0.67838	2.000000	0.40435	.	.	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	15.974	0.79840	964	0.07719	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	158.43	45	chr8	143858184	.	G	A	158.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.694;DP=696;ExcessHet=0;FS=28.618;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.51;MQRankSum=-5.072;QD=0.67;ReadPosRankSum=2.57;SOR=1.169	GT:AD:DP:GQ:PL	0/1:200,36:236:99:170,0,5623	9	0	1	0
chr8	143920994	143920994	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.C8785T:p.R2929W,PLEC:NM_201379:exon32:c.C8761T:p.R2921W,PLEC:NM_201380:exon32:c.C9238T:p.R3080W,PLEC:NM_201381:exon32:c.C8731T:p.R2911W,PLEC:NM_201382:exon32:c.C8827T:p.R2943W,PLEC:NM_201383:exon32:c.C8839T:p.R2947W,PLEC:NM_201384:exon32:c.C8827T:p.R2943W,PLEC:NM_000445:exon33:c.C8908T:p.R2970W	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	636684	Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy	MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.595	0.329288084514	.	.	5.028e-05	0.0001	0	0.0001	0	3.046e-05	0.0011	6.061e-05	3.88e-05	6	154602	rs760837198	1.575e-05	1.573e-05	1.499e-05	1.651e-05	0.0003	1.049e-05	8.76e-06	6.092e-05	2.521e-05	2.987e-05	4.472e-05	3.826e-05	0	0	0.0003	9.892e-06	6.625e-05	2.319e-05	1.314e-05	1.313e-05	0	2.69e-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	0.002	0.72154	D	0.027	0.55759	D	0.98	0.59353	D	0.606	0.50970	P	0.000564	0.43250	U	0.092502	0.99862	0.45182	D	2.78	0.81115	M	-1.13	0.78082	T	-4.43	0.77554	D	0.449	0.51851	0.138	0.84846	D	0.522	0.82163	D	10	0.72715145	0.74050	D	0.329288	0.91704	D	0.595	0.83911	0.546	0.66015	0.749547688671	0.74728	0.5502641380807304	0.54952	.	.	0.488075256348	0.37171	T	0.513952	0.82872	D	-0.0510421	0.44287	T	-0.128948	0.61062	T	0.949411273002625	0.63109	D	0.940306	0.77472	D	0.11990081	0.28224	0.1039338	0.24949	0.11990081	0.28223	0.1039338	0.24948	-8.517	0.64541	D	0.559924777812093	0.62776	0.108	0.26607	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.204125	0.63463	24.6	0.97899086236752564	0.36731	0.90450	0.51636	D	AEFDGBCI	0.736643	0.68208	D	0.456604559430188	0.64579	4.71562	0.408612973189728	0.62101	4.419939	0.999999989635549	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	3.94	0.44807	4.446000	0.59756	.	.	0.660000	0.55035	0.978000	0.35038	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.8436:0.1564	13.649	0.61775	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	7819.43	115	chr8	143920994	.	G	A	7819.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.893;DP=1244;ExcessHet=0;FS=1.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.484;SOR=0.67	GT:AD:DP:GQ:PL	0/1:300,318:618:99:7831,0,7101	9	0	1	0
chr8	143921461	143921461	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.C8318T:p.S2773F,PLEC:NM_201379:exon32:c.C8294T:p.S2765F,PLEC:NM_201380:exon32:c.C8771T:p.S2924F,PLEC:NM_201381:exon32:c.C8264T:p.S2755F,PLEC:NM_201382:exon32:c.C8360T:p.S2787F,PLEC:NM_201383:exon32:c.C8372T:p.S2791F,PLEC:NM_201384:exon32:c.C8360T:p.S2787F,PLEC:NM_000445:exon33:c.C8441T:p.S2814F	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.353103324954	.	.	8.371e-06	0	0	0	0	1.518e-05	0	0	6.5e-06	1	154602	rs781957922	2.053e-06	2.052e-06	1.362e-06	2.752e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000011	0.62929	U	0.000000	1	0.81001	D	3.695	0.94570	H	-0.81	0.73949	T	-3.89	0.73042	D	0.656	0.84298	0.370	0.88649	D	0.619	0.86580	D	10	0.92530084	0.91879	D	0.353103	0.92320	D	0.724	0.90280	0.809	0.92581	0.79161799632	0.78968	0.8396967860581386	0.83929	.	.	0.669523835182	0.62770	T	0.632413	0.88624	D	0.18414	0.72424	D	0.026728	0.72066	D	0.990523755550385	0.80746	D	0.988539	0.96067	D	0.32606044	0.55146	0.31440884	0.57433	0.32606044	0.55146	0.31440884	0.57433	-14.926	0.95677	D	0.7069809631973496	0.78672	0.922	0.85211	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.782762	0.54398	23.5	0.8556016677382613	0.15969	0.98452	0.82924	D	AEFDGBCI	0.923211	0.89933	D	0.765359388934148	0.83899	8.140469	0.672634467462179	0.80308	7.26976	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	9.788000	0.98207	.	.	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:0.0:1.0:0.0	18.196	0.89756	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	4216.43	325	chr8	143921461	.	G	A	4216.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.455;DP=1975;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.98;MQRankSum=0.925;QD=11.78;ReadPosRankSum=-1.717;SOR=0.644	GT:AD:DP:GQ:PL	0/1:194,164:358:99:4228,0,5149	9	0	1	0
chr8	144108637	144108637	G	A	exonic	WDR97	.	nonsynonymous SNV	WDR97:NM_001316309:exon3:c.G571A:p.V191M	.	411	1095	15	1	0	17	0.00770276	.	.	.	2828666	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.0825571857173	.	0.000798722	0.0054	0	0.01	0	.	0.0032	0.0083	0.0064	0.0012096	187	154602	rs535489249	0.0055	0.0049	0.0053	0.0057	0.0136	0.0054	0.0053	0.0103	0.0091	0.0010	0.0038	0.0017	0	0.0034	0.0136	0.0068	0.0062	0.0057	0.0044	0.0044	0.0046	0.0042	0.0070	0.0041	0.0040	0.0065	0.0063	0.0010	0	0.0050	0.0037	0	0.0018	0.0102	0.0070	0.0076	0.0046	0.256	0.16793	T	0.194	0.28120	T	.	.	.	.	.	.	0.271357	0.03774	N	1.733240	1	0.08975	N	.	.	.	0.02	0.62318	T	-0.32	0.12283	N	0.06	0.03175	-1.0104	0.26791	T	0.138	0.45564	T	7	0.0051650107	0.00112	T	0.082557	0.73927	D	0.008	0.00669	.	.	0.188950314367	0.18478	0.7321916493934286	0.73164	.	.	.	.	.	0.00624	0.05676	T	-0.518778	0.00447	T	-0.513119	0.20995	T	0.0090757142752409	0.00114	T	0.512349	0.16405	T	0.060349323	0.12372	0.0776745	0.17324	0.060349323	0.12372	0.0776745	0.17324	-5.387	0.40794	T	.	.	0.128	0.27192	B	.	.	0.150319	0.05428	1.900	0.86042743283121192	0.16276	0.05277	0.11118	N	AEFDBCI	0.095452	0.19285	N	-0.711360346376261	0.15701	0.7936244	-0.901555472319581	0.12057	0.6180328	0.999999076928448	0.74766	0.422189	0.06491	0	0.514364	0.08380	0	0.607795	0.38427	0	0.691587	0.68394	0	.	.	3.35	-0.0384	0.13208	-0.998000	0.03812	1.418000	0.26339	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.023000	0.12082	0.2859:0.1827:0.5314:0.0	4.276	0.10255	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	753.43	39	chr8	144108637	.	G	A	753.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.645;DP=403;ExcessHet=0;FS=1.029;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=2.1;SOR=0.711	GT:AD:DP:GQ:PL	0/1:26,30:56:99:765,0,731	9	0	1	0
chr8	144116210	144116210	C	T	exonic	WDR97	.	nonsynonymous SNV	WDR97:NM_001316309:exon24:c.C4786T:p.R1596C	.	394	1109	18	1	0	20	0.00893655	.	.	.	2828671	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.242	0.653527837348	.	0.000599042	0.0062	0	0	0	.	0.0065	0	0.0067	0.0011513	178	154602	rs528459469	0.0054	0.0050	0.0053	0.0055	0.0213	0.0053	0.0052	0.0176	0.0163	0.0008	0.0028	0.0022	0	0.0035	0.0213	0.0067	0.0061	0.0050	0.0041	0.0041	0.0042	0.0039	0.0066	0.0038	0.0037	0.0061	0.0059	0.0009	0	0.0036	0.0043	0	0.0018	0.0136	0.0066	0.0062	0.0046	0.0	0.91255	D	0.0	0.92824	D	0.957	0.54824	D	0.105	0.31087	B	.	.	.	.	0.999991	0.08975	N	.	.	.	-1.33	0.79854	T	-1.81	0.42575	N	0.239	0.26957	-0.6446	0.62948	T	0.268	0.63939	T	8	0.007150501	0.00162	T	0.653528	0.97073	D	0.242	0.54781	.	.	0.705321725469	0.70276	0.5485109752252756	0.54777	.	.	0.551005840302	0.45999	T	0.032182	0.22374	T	-0.323907	0.06583	T	-0.2332	0.51461	T	0.0584939045216909	0.06929	T	0.723828	0.33737	T	0.14804423	0.33816	0.12173561	0.29370	0.14804423	0.33816	0.12173561	0.29369	-4.976	0.36579	T	.	.	0.210	0.43815	B	.	.	4.016568	0.59292	24.1	0.99811139402551197	0.89531	0.09664	0.15369	N	AEFDBHI	0.102730	0.20599	N	-0.180524585394752	0.33947	1.931791	-0.269848692089949	0.29097	1.627477	0.999224767265235	0.38808	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.46	4.46	0.53567	3.465000	0.52828	1.615000	0.27656	0.597000	0.34315	0.508000	0.27017	0.032000	0.21310	0.001000	0.02609	0.0:0.8959:0.0:0.1041	9.082	0.35720	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	510.43	35	chr8	144116210	.	C	T	510.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.16;DP=351;ExcessHet=0;FS=1.174;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.67;SOR=0.483	GT:AD:DP:GQ:PL	0/1:23,22:45:99:522,0,534	9	0	1	0
chr8	144524560	144524560	T	G	exonic	LRRC24	.	nonsynonymous SNV	LRRC24:NM_001024678:exon3:c.A319C:p.S107R	.	444	1073	5	0	0	5	0.0023245	.	.	.	2343239	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.0224828862843	.	0.000199681	0.0003	0	0.0007	0	0	0.0005	0	0	0.0001552	24	154602	rs201975035	0.0002	0.0002	0.0002	0.0002	0.0058	0.0002	0.0002	0.0042	0.0036	0.0004	0.0005	0	0	0	0.0058	0.0002	0.0006	5.997e-05	0.0005	0.0005	0.0006	0.0004	0.0004	0.0004	0.0004	0.0003	0.0002	0	0.0384	0.0003	0	0	0	0.0308	0.0004	0.0014	0	0.093	0.31532	T	0.155	0.31936	T	0.0	0.02946	B	0.0	0.01387	B	0.001538	0.38731	N	0.248368	0.976769	0.39305	D	0.56	0.15190	N	0.39	0.57419	T	-0.51	0.15986	N	0.154	0.17553	-1.0528	0.13628	T	0.087	0.33718	T	10	0.0072493255	0.00165	T	0.022483	0.45373	T	0.062	0.17934	0.384	0.40298	0.0934897674506	0.08844	0.6218062595576144	0.62113	0.364172412179	0.38030	0.65098708868	0.60125	T	0.005167	0.04614	T	-0.449089	0.01144	T	-0.548712	0.17449	T	0.0144326281079404	0.00291	T	0.615438	0.27458	T	0.03618842	0.04403	0.053887825	0.09165	0.03618842	0.04402	0.053887825	0.09164	-4.756	0.34074	T	.	.	0.231	0.46424	B	.;.	.;.	1.283922	0.16839	12.80	0.97669223099568125	0.35247	0.19356	0.20629	N	AEFDBHCI	0.124992	0.24131	N	-0.951628655298544	0.09656	0.4579557	-0.916212760439125	0.11712	0.5983369	0.999999928758471	0.74766	0.77792	0.99625	0	0.516746	0.08562	0	0.854111	0.99894	0	0.599892	0.37169	0	.	.	4.54	1.55	0.22356	-0.095000	0.11043	0.305000	0.17021	-0.218000	0.08083	0.000000	0.06391	0.011000	0.20116	0.900000	0.43643	0.0:0.612:0.1757:0.2123	5.812	0.17734	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008403	0.000000	0.010929	0.014388	0.000000	0.035714	0.003145	0.000000	0.05	476.43	33	chr8	144524560	.	T	G	476.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.09;DP=342;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-1.647;SOR=0.668	GT:AD:DP:GQ:PL	0/1:27,20:47:99:488,0,717	9	0	1	0
chr8	144547482	144547482	G	C	exonic	ARHGAP39	.	nonsynonymous SNV	ARHGAP39:NM_025251:exon4:c.C1604G:p.P535R,ARHGAP39:NM_001308208:exon5:c.C1604G:p.P535R,ARHGAP39:NM_001308207:exon6:c.C1604G:p.P535R	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0348792482317	.	0.000798722	0.0005	0.0065	0	0	0	0	0.0049	0	0.0002135	33	154602	rs567204289	0.0001	0.0001	0.0001	0.0001	0.0033	0.0001	0.0001	0.0028	0.0026	0.0033	5.41e-05	0	7.999e-05	0	0.0026	2.881e-05	0.0003	0	0.0009	0.0009	0.0009	0.0008	0.0031	0.0007	0.0007	0.0026	0.0025	0.0031	0	6.533e-05	0	0	0	0.0034	4.41e-05	0	0	0.043	0.41364	D	0.118	0.36365	T	0.29	0.32311	B	0.202	0.36942	B	0.233792	0.15861	N	0.604741	1	0.08975	N	1.61	0.41143	L	-0.03	0.67712	T	-1.33	0.33197	N	0.457	0.49420	-0.9703	0.37136	T	0.150	0.47752	T	10	0.005754441	0.00128	T	0.034879	0.55972	D	0.049	0.13647	0.224	0.14813	0.397391247328	0.39351	0.22526005428046028	0.22441	0.824740435102	0.67333	0.59525257349	0.52234	T	0.046575	0.27464	T	-0.430617	0.01470	T	-0.391848	0.34335	T	0.0156328802776171	0.00358	T	0.721228	0.33447	T	0.046241224	0.07707	0.073670395	0.16034	0.046241224	0.07707	0.073670395	0.16034	-4.289	0.28858	T	.	.	0.083	0.09191	B	.;.	.;.	0.742393	0.11117	7.764	0.33694116844043576	0.02021	0.17328	0.19789	N	AEFDBI	0.155817	0.28107	N	-0.851895988068323	0.12003	0.5824987	-0.89854470056914	0.12128	0.6220885	0.227671626752123	0.18429	0.653496	0.48692	0	0.547309	0.14657	0	0.596874	0.31795	0	0.604944	0.38103	0	.	.	5.12	0.874	0.18260	0.422000	0.21016	2.608000	0.33560	0.676000	0.76740	0.199000	0.24297	0.998000	0.33993	0.001000	0.02609	0.0936:0.0:0.2988:0.6076	7.008	0.24026	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	0.002567	0.000000	0.001374	0.008824	0.000000	0.000000	0.003165	0.000000	0.05	597.43	36	chr8	144547482	.	G	C	597.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.484;DP=404;ExcessHet=0;FS=10.802;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=0.325;SOR=0.971	GT:AD:DP:GQ:PL	0/1:37,28:65:99:609,0,927	9	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1776.96	33	chr9	117371	.	C	*	1776.96	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.714;DP=213;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=5;MLEAF=0.25;MQ=46.25;MQRankSum=-3.333;QD=10.97;ReadPosRankSum=-0.128;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,12:25:99:.:.:929,462,495:.	5	0	5	0
chr9	379911	379911	G	A	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon20:c.G2377A:p.V793M,DOCK8:NM_001193536:exon20:c.G2377A:p.V793M,DOCK8:NM_203447:exon21:c.G2581A:p.V861M	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2183261	.	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.00943690482145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.27904	T	0.256	0.40426	T	0.0	0.40023	B	0.004	0.40966	B	0.639294	0.10614	N	0.836372	1	0.08975	N	1.1	0.28011	L	1.46	0.32238	T	-0.31	0.23372	N	0.253	0.32481	-1.0625	0.11142	T	0.070	0.28609	T	10	0.116609216	0.22001	T	0.009437	0.24739	T	0.039	0.10176	0.309	0.28128	0.269111216191	0.26524	0.29557977611217423	0.29470	0.0489215141657	0.05346	0.289804518223	0.08894	T	0.103199	0.41163	T	-0.305022	0.08194	T	-0.67592	0.07235	T	0.25990703701973	0.23311	T	0.676232	0.33404	T	0.030696644	0.02777	0.048025377	0.07045	0.030696644	0.02777	0.048025377	0.07044	-5.055	0.39445	T	0.2042528810778257	0.27218	0.082	0.11749	B	.;.;.;.;.	.;.;.;.;.	1.810121	0.23007	15.85	0.46625105331627059	0.03749	0.08667	0.14564	N	AEFDBI	0.050243	0.08764	N	-0.828488023418414	0.12586	0.6143919	-0.830486230893736	0.13757	0.715426	0.989286905395624	0.31777	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.45	3.57	0.40014	0.331000	0.19477	0.876000	0.22354	-0.172000	0.11096	0.008000	0.17931	0.346000	0.24448	0.007000	0.07825	0.1066:0.5264:0.3671:0.0	11.475	0.49538	813	0.42397	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1461.43	33	chr9	379911	.	G	A	1461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.497;DP=452;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.113;SOR=0.823	GT:AD:DP:GQ:PL	0/1:70,58:128:99:1473,0,1839	9	0	1	0
chr9	32634813	32634813	C	G	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.G767C:p.G256A	.	1	1509	12	0	0	12	0.0039604	.	.	.	2828838	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.092	.	0.0056	0.00339457	0.0068	0.0013	0.0010	0	0.0259	0.0086	0.0132	0.0030	0.0066687	1031	154602	rs55991718	0.0076	0.0076	0.0077	0.0076	0.0080	0.0075	0.0075	0.0079	0.0078	0.0014	0.0015	0.0031	2.519e-05	0.0253	0.0021	0.0080	0.0055	0.0040	0.0068	0.0068	0.0061	0.0076	0.0090	0.0065	0.0063	0.0085	0.0082	0.0015	0	0.0016	0.0063	0	0.0266	0	0.0090	0.0052	0.0042	0.028	0.46129	D	0.037	0.51737	D	0.151	0.28027	B	0.04	0.23831	B	0.000000	0.84330	N	0.052112	0.999667	0.48141	D	2.455	0.71248	M	3.02	0.08986	T	-3.29	0.65742	D	0.29	0.32812	-1.0664	0.10223	T	0.012	0.04747	T	10	0.006072521	0.00136	T	.	.	.	0.092	0.26621	.	.	0.411001663086	0.40716	0.36905587412701624	0.36819	0.173944268882	0.19586	0.420082181692	0.27847	T	0.238464	0.60636	T	-0.556626	0.00266	T	-0.56437	0.15969	T	0.0595602123796396	0.07099	T	0.970703	0.89491	D	0.25123996	0.48131	0.20725717	0.44977	0.25123996	0.48131	0.20725717	0.44976	-11.734	0.83532	D	.	.	0.295	0.52582	B	.	.	3.265755	0.44684	22.0	0.96158345794661948	0.28890	0.74270	0.36330	D	AEFDGBI	0.395272	0.47220	N	-0.291553724954087	0.29472	1.634758	-0.320175729517094	0.27448	1.523109	0.992585134461447	0.32893	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.04	1.04	0.19220	5.212000	0.65058	7.398000	0.58557	0.243000	0.18268	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	7.486	0.26601	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	4604.43	43	chr9	32634813	.	C	G	4604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.336;DP=721;ExcessHet=0;FS=1.299;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.98;MQRankSum=1.08;QD=14;ReadPosRankSum=-0.192;SOR=0.77	GT:AD:DP:GQ:PL	0/1:153,176:329:99:4616,0,4126	9	0	1	0
chr9	33558146	33558146	C	A	exonic	ANKRD18B	.	nonsynonymous SNV	ANKRD18B:NM_001353432:exon12:c.C2230A:p.Q744K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0174954639466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41096	T	0.698	0.11515	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2.215	0.62545	M	1.67	0.27331	T	-2.46	0.57275	N	0.161	0.16864	-0.9792	0.35186	T	0.069	0.28280	T	5	0.12192336	0.23122	T	0.017495	0.39223	T	0.019	0.03383	0.289	0.24921	0.173771789658	0.16945	0.10607044275225361	0.10537	0.0626521362134	0.06974	0.546799838543	0.45406	T	0.013752	0.25240	T	-0.240538	0.15279	T	-0.583293	0.14251	T	0.161680226188952	0.17995	T	0.744226	0.36418	T	0.17316288	0.38048	0.10656882	0.25640	0.17316288	0.38048	0.10656882	0.25639	-3.209	0.12591	T	.	.	0.079	0.07507	B	.;.	.;.	1.294749	0.16958	12.87	0.80301428392465712	0.13139	0.00534	0.02469	N	AEFI	0.022444	0.01122	N	-0.670497847955021	0.16865	0.8630429	-0.869699272896165	0.12815	0.6613781	2.21869176196833E-4	0.06048	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.72	0.591	0.16648	0.041000	0.13813	-1.280000	0.05829	0.282000	0.18639	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.5162:0.4838:0.0	6.107	0.19303	712	0.56465	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1252.43	43	chr9	33558146	.	C	A	1252.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.821;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.49;MQRankSum=0.49;QD=10.89;ReadPosRankSum=-0.604;SOR=0.657	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1264,0,1372	9	0	1	0
chr9	34093402	34093402	G	A	exonic	DCAF12	.	nonsynonymous SNV	DCAF12:NM_015397:exon7:c.C908T:p.A303V	.	424	1081	16	1	0	18	0.00825688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	.	0.0002	0.00399361	0.0022	0	0.0008	0	0	0.0004	0.0022	0.0139	0.001934	299	154602	rs149115505	0.0010	0.0010	0.0006	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	5.974e-05	0.0002	3.826e-05	0	0	0.0019	0.0002	0.0011	0.0138	0.0006	0.0006	0.0003	0.0009	0.0133	0.0005	0.0005	0.0107	0.0097	4.811e-05	0	0.0005	0	0	0	0	0.0002	0	0.0133	0.007	0.59928	D	0.013	0.63109	D	0.633	0.40250	P	0.118	0.32088	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	-0.27	0.67367	T	-2.12	0.48184	N	0.921	0.92433	-0.4600	0.70067	T	0.276	0.64814	T	10	0.012073249	0.00261	T	.	.	.	0.471	0.76487	.	.	0.810726899296	0.80895	0.6850247409028064	0.68441	1.03043029366	0.75413	0.832992434502	0.87021	D	0.209426	0.56964	T	0.00687563	0.52599	T	0.248131	0.85529	D	0.0712406606931485	0.08824	T	0.960304	0.85063	D	0.2813473	0.51177	0.2866694	0.54676	0.2813473	0.51177	0.2866694	0.54675	-8.042	0.61356	D	.	.	0.817	0.78094	P	.	.	4.493645	0.70214	25.5	0.99857932726301568	0.93639	0.99295	0.94095	D	AEFDBI	0.909636	0.86652	D	0.533704854304489	0.69097	5.308765	0.627181203696604	0.76920	6.580939	0.999999999946936	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.225000	0.94383	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.868	0.88717	401	0.82673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.007576	0.15	4120.45	36	chr9	34093402	.	G	A	4120.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.601;DP=613;ExcessHet=0.7463;FS=5.481;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.184;SOR=0.964	GT:AD:DP:GQ:PL	0/1:43,60:103:99:1490,0,1130	7	0	3	0
chr9	35095097	35095097	C	T	exonic	PIGO	.	nonsynonymous SNV	PIGO:NM_032634:exon2:c.G469A:p.A157T,PIGO:NM_152850:exon2:c.G469A:p.A157T,PIGO:NM_001201484:exon3:c.G469A:p.A157T	Hyperphosphatasia with mental retardation syndrome 2, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	370423	not_provided|Hyperphosphatasia_with_intellectual_disability_syndrome_2	MedGen:C3661900|MONDO:MONDO:0013882,MedGen:C3553637,OMIM:614749,Orphanet:247262	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.182	0.0148139633359	.	0.000998403	0.0006	0	0	0	0	3.042e-05	0	0.0050	0.000511	79	154602	rs542399310	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	5.633e-05	0.0002	1.26e-05	0.0002	0.0030	0.0001	0.0001	7.709e-05	0.0002	0.0041	9.738e-05	8.253e-05	0.0027	0.0023	0	0	0	0	0	0	0	2.94e-05	0	0.0041	0.197	0.37750	T	0.153	0.40110	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.915	0.51223	L	1.5	0.31205	T	-2.66	0.56945	D	0.654	0.66443	-0.9987	0.30283	T	0.181	0.52889	T	10	0.009331405	0.00211	T	0.014814	0.35167	T	0.182	0.45420	0.403	0.43408	0.58943113394	0.58618	0.858886199283449	0.85851	0.361238998414	0.37780	0.598530769348	0.52697	T	0.072012	0.34349	T	-0.244001	0.14843	T	-0.124105	0.61464	T	0.213010385181029	0.21110	T	0.964804	0.87634	D	0.13810304	0.31952	0.18763627	0.42008	0.13810304	0.31952	0.18763627	0.42007	-6.982	0.53902	T	0.4662203555115896	0.54751	0.085	0.09965	B	.;.;.	.;.;.	3.835499	0.55468	23.6	0.99907517460362316	0.97801	0.95937	0.66801	D	AEFBCI	0.737393	0.68260	D	0.568738651955023	0.71228	5.619382	0.62777872688054	0.76964	6.589266	1.0	0.98316	0.651	0.46895	0	0.587265	0.34161	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.93	5.93	0.95888	6.034000	0.70575	4.883000	0.45686	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	20.354	0.98826	115	0.95340	.;.;GPI ethanolamine phosphate transferase 3, 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	.	.	.	.	.	.	.	.	0.05	900.43	37	chr9	35095097	.	C	T	900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.919;DP=372;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.11;SOR=0.948	GT:AD:DP:GQ:PL	0/1:34,34:68:99:912,0,822	9	0	1	0
chr9	35295883	35295883	C	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001330653:exon8:c.C714A:p.D238E,UNC13B:NM_001371186:exon8:c.C714A:p.D238E,UNC13B:NM_001371189:exon8:c.C714A:p.D238E,UNC13B:NM_006377:exon8:c.C714A:p.D238E	.	435	1048	37	2	0	41	0.0191858	.	.	.	700991	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0106	0.00479233	0.0084	0.0021	0.0074	0	0	0.0122	0.0167	0.0044	0.0081047	1253	154602	rs35199210	0.0096	0.0096	0.0096	0.0097	0.0333	0.0095	0.0094	0.0294	0.0280	0.0025	0.0102	0.0514	0	0.0002	0.0333	0.0097	0.0136	0.0040	0.0077	0.0077	0.0080	0.0073	0.0110	0.0073	0.0072	0.0097	0.0092	0.0019	0.0033	0.0110	0.0521	0.0006	9.434e-05	0.0102	0.0099	0.0170	0.0037	0.004	0.65419	D	0.171	0.33780	T	0.884	0.48618	P	0.138	0.33406	B	0.000984	0.40743	D	0.236533	0.972537	0.38954	D	2.35	0.67516	M	-1.98	0.85247	D	-0.37	0.14000	N	0.588	0.60833	-0.4719	0.69658	T	0.281	0.65299	T	10	0.0052330196	0.00114	T	.	.	.	0.145	0.38592	0.148	0.05138	0.660788651602	0.65794	0.19109466861837113	0.19027	0.263833591492	0.28942	0.610554933548	0.54395	T	0.016412	0.43235	T	-0.275902	0.11107	T	-0.159695	0.58380	T	0.0356482401155776	0.02920	T	0.89601	0.67171	D	0.08653681	0.20117	0.09496227	0.22500	0.08653681	0.20117	0.09496227	0.22500	-3.877	0.21958	T	.	.	0.263	0.65078	B	.;.;.;.	.;.;.;.	1.389786	0.18026	13.50	0.99145607044478112	0.53655	0.97075	0.72544	D	AEFBI	0.589649	0.58645	D	-0.393676163815362	0.25693	1.396658	-0.328153910817774	0.27193	1.507234	0.018091049775015	0.13020	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	1.96	0.25203	1.824000	0.38710	0.129000	0.15021	-0.231000	0.07715	1.000000	0.71638	0.944000	0.28851	0.993000	0.69303	0.0:0.7439:0.0:0.2561	12.280	0.54079	167	0.93508	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023666	0.025253	0.033967	0.014620	0.050000	0.017241	0.018293	0.015152	0.05	1676.43	34	chr9	35295883	.	C	A	1676.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.485;DP=461;ExcessHet=0;FS=2.942;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=1.17;SOR=0.48	GT:AD:DP:GQ:PL	0/1:88,65:153:99:1688,0,2374	9	0	1	0
chr9	35906578	35906578	-	CACCACCTCCAC	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.291_292insCACCACCTCCAC:p.H103_H104insLHHH	.	594	912	5	3	8	19	0.00599455	.	.	.	3887060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.1283	.	0.0017	0	0.0009	0.0002	0	0.0024	0.0137	0.0014	5.17e-05	8	154602	rs745974201	0.0046	0.0047	0.0046	0.0047	0.0113	0.0045	0.0045	0.0086	0.0076	0.0008	0.0023	0.0269	0.0001	6.03e-05	0.0113	0.0045	0.0065	0.0039	0.0062	0.0068	0.0061	0.0064	0.0068	0.0057	0.0055	0.0061	0.0058	0.0023	0.0030	0.0041	0.0396	0	0	0	0.0068	0.0084	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	699.39	42	chr9	35906578	.	T	TCACCACCTCCAC	699.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.637;DP=488;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=1.05;SOR=0.791	GT:AD:DP:GQ:PL	0/1:27,21:48:99:711,0,1011	9	0	1	0
chr9	37588901	37588901	T	C	exonic	TOMM5	.	nonsynonymous SNV	TOMM5:NM_001001790:exon2:c.A153G:p.I51M,TOMM5:NM_001134485:exon2:c.A255G:p.I85M	.	446	1075	1	0	0	1	0.0004649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.117173651247	0.0002	0.000199681	0.0001	0.0001	0.0003	0	0	0.0002	0	0	0.0001229	19	154602	rs200232709	0.0001	0.0001	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	0.0005	0.0003	0.0015	0	0	0.0033	7.195e-05	0.0005	4.641e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.23e-05	0.0001	0.0001	0	0	0.0003	0.0006	0	0	0	0.0002	0.0005	0.0002	0.003	0.72154	D	0.004	0.76473	D	0.866	0.47610	P	0.53	0.48544	P	0.000090	0.51296	D	0.071397	1	0.81001	D	.	.	.	.	.	.	-2.17	0.49018	N	0.257	0.32259	-0.5720	0.65935	T	0.268	0.63971	T	8	0.033285916	0.01501	T	0.117174	0.79688	D	0.644	0.86485	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	0.056811	0.30392	T	-0.0612267	0.42715	T	-0.0410109	0.67633	D	0.115503765642643	0.13985	T	0.313569	0.24845	T	0.22220765	0.44815	0.22427301	0.47334	0.22220765	0.44815	0.22427301	0.47333	-4.656	0.32867	T	.	.	0.532	0.66007	A	.;.	.;.	2.580122	0.33447	19.34	0.99635626235667574	0.76326	0.86624	0.45943	D	AEFDBCI	0.209934	0.33588	N	0.140215182090608	0.48348	3.048	0.178968263477668	0.48694	3.082071	0.999999523215451	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.14	3.98	0.45383	2.084000	0.41249	2.855000	0.35166	-0.125000	0.13442	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:0.1798:0.8202	9.332	0.37187	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	0.005035	0.000000	0.005435	0.017544	0.000000	0.008621	0.000000	0.003788	0.05	544.43	38	chr9	37588901	.	T	C	544.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.761;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.486;SOR=0.732	GT:AD:DP:GQ:PL	0/1:35,24:59:99:556,0,852	9	0	1	0
chr9	61191484	61191484	G	A	exonic	SPATA31A5;SPATA31A7	.	nonsynonymous SNV	SPATA31A5:NM_001113541:exon2:c.G221A:p.G74D,SPATA31A7:NM_015667:exon2:c.G221A:p.G74D	.	579	934	6	3	0	12	0.00638298	.	.	.	2342996	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.000771739095602	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372452369	0.0005	0.0005	0.0005	0.0006	0.0045	0.0005	0.0005	0.0029	0.0024	0.0002	0.0006	0	0	0.0010	0.0045	0.0004	0.0006	0.0026	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0003	0.0003	0.0001	0	0.0005	0	0	0.0014	0.0045	0.0004	0.0006	0.0007	.	.	.	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.16168	.	.	.	.	.	.	.	0.06826696	0.09631	T	.	.	.	.	.	.	.	.	.	0.1431986113949857	0.14242	.	.	.	.	.	0.101024	0.40738	T	.	.	.	.	.	.	.	.	.	0.447355	0.12562	T	.	.	.	.	.	.	.	.	-6.532	0.50533	T	.	.	0.272	0.50627	B	.	.	1.342261	0.17486	13.19	.	.	.	.	.	.	0.031771	0.03460	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.135000	0.10399	-8.085000	0.01031	0.308000	0.19071	0.000000	0.06391	0.000000	0.08366	0.178000	0.21234	.	.	.	.	.	Domain of unknown function DUF4599	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4466.14	225	chr9	61191484	.	G	A	4466.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.709;DP=737;ExcessHet=0.2348;FS=2.46;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=42.53;MQRankSum=-2.852;QD=9.99;ReadPosRankSum=0.687;SOR=0.878	GT:AD:DP:GQ:PL	0/1:113,109:222:99:2468,0,2612	8	0	2	0
chr9	67900907	67900907	C	T	exonic	ANKRD20A1	.	stopgain	ANKRD20A1:NM_032250:exon15:c.C1912T:p.R638X	.	566	897	59	0	0	59	0.0318403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00439297	0.0065	0.0004	0.0028	0	0	0.0042	0.0023	0.0273	0.00146	38	26028	rs143310784	0.0043	0.0045	0.0034	0.0051	0.0280	0.0042	0.0041	0.0271	0.0267	0.0005	0.0020	0.0134	7.576e-05	3.747e-05	0.0213	0.0027	0.0053	0.0280	0.0027	0.0030	0.0022	0.0031	0.0249	0.0024	0.0024	0.0212	0.0198	0.0004	0	0.0017	0.0110	0	0	0.0034	0.0028	0.0058	0.0249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.432614	0.68750	25.3	.	.	.	.	.	.	0.119214	0.23277	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.754000	0.26056	-0.962000	0.06776	-3.177000	0.00113	0.992000	0.37556	0.000000	0.08366	0.000000	0.00833	.	.	.	994	0.00715	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1453.43	36	chr9	67900907	.	C	T	1453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.496;DP=664;ExcessHet=0;FS=0.454;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.73;MQRankSum=-2.43;QD=4.3;ReadPosRankSum=-1.088;SOR=0.735	GT:AD:DP:GQ:PL	0/1:248,90:338:99:1465,0,5779	9	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.35	839.95	35	chr9	86018822	.	G	C	839.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.846;DP=779;ExcessHet=7.0302;FS=147.352;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.58;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,21:101:99:0|1:86018822_G_C:113,0,2196:86018822	3	0	7	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	7760.04	386	chr9	92080918	.	G	C	7760.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.684;DP=3889;ExcessHet=22.563;FS=438.653;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.08;SOR=14.782	GT:AD:DP:GQ:PL	0/1:225,139:385:99:697,0,4029	0	0	10	0
chr9	92466381	92466381	C	T	exonic	ASPN	.	nonsynonymous SNV	ASPN:NM_001193335:exon5:c.G575A:p.G192E,ASPN:NM_017680:exon5:c.G575A:p.G192E	.	448	1068	6	0	0	6	0.00280112	.	.	.	3192518	ASPN-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.626	.	0.0072	0.00299521	0.0074	0.0018	0.0023	0	0.0088	0.0108	0.0056	0.0042	0.0073479	1136	154602	rs41278695	0.0093	0.0094	0.0094	0.0092	0.0107	0.0092	0.0091	0.0106	0.0105	0.0014	0.0038	0.0012	2.524e-05	0.0106	0.0025	0.0107	0.0071	0.0045	0.0075	0.0075	0.0075	0.0074	0.0119	0.0071	0.0070	0.0113	0.0110	0.0023	0.0011	0.0050	0.0014	0.0002	0.0096	0	0.0119	0.0080	0.0056	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	2.445	0.70938	M	0.18	0.60361	T	-6.02	0.89684	D	0.896	0.89577	-0.0723	0.80727	T	0.396	0.74872	T	10	0.019685864	0.00443	T	.	.	.	0.626	0.85563	.	.	0.973384217241	0.97309	.	.	0.864070788575	0.69114	0.7205311656	0.70124	T	0.224825	0.58938	T	-0.0153495	0.49513	T	0.217499	0.84048	D	0.0520914603284572	0.05863	T	0.89931	0.64723	D	0.87072796	0.88919	0.8910737	0.94343	0.87072796	0.88920	0.8910737	0.94344	-7.968	0.60852	D	.	.	0.283	0.57380	B	.;.	.;.	4.856642	0.79435	27.1	0.99790906309619631	0.87661	0.99418	0.95776	D	AEFI	0.959754	0.98023	D	0.868788919448254	0.90150	10.27502	0.856817839053557	0.93408	12.02286	0.999999999999436	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.72	5.72	0.89380	7.568000	0.81546	7.673000	0.64890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.269	0.98466	976	0.04745	.;.	.	.	.	.	rs41278695	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	635.43	43	chr9	92466381	.	C	T	635.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.098;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=0.764;SOR=0.722	GT:AD:DP:GQ:PL	0/1:51,28:79:99:647,0,1363	9	0	1	0
chr9	92729208	92729208	T	C	exonic	BICD2	.	nonsynonymous SNV	BICD2:NM_001003800:exon2:c.A269G:p.K90R,BICD2:NM_015250:exon2:c.A269G:p.K90R	Spinal muscular atrophy, lower extremity-predominant, 2, AD, Autosomal dominant	431	1086	5	0	0	5	0.00229674	.	.	.	236923	Inborn_genetic_diseases|Autosomal_dominant_childhood-onset_proximal_spinal_muscular_atrophy_with_contractures|not_provided|Hereditary_spastic_paraplegia|BICD2-related_disorder|Neuronopathy,_distal_hereditary_motor,_autosomal_dominant|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014121,MedGen:C4747715,OMIM:615290,Orphanet:363447,Orphanet:363454|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|.|MONDO:MONDO:0015362,MedGen:C5548212,OMIM:PS182960,Orphanet:140465|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.051	0.00780847447494	0.0040	0.00119808	0.0047	0.0010	0.0010	0	0.0070	0.0067	0.0044	0.0033	0.0046507	719	154602	rs61754130	0.0057	0.0057	0.0057	0.0056	0.0064	0.0056	0.0055	0.0063	0.0062	0.0005	0.0015	0.0008	0	0.0086	0.0014	0.0064	0.0039	0.0039	0.0043	0.0043	0.0044	0.0043	0.0072	0.0041	0.0040	0.0067	0.0065	0.0011	0.0011	0.0010	0.0003	0.0002	0.0074	0	0.0072	0.0038	0.0041	0.706	0.05341	T	0.661	0.06490	T	0.001	0.09854	B	0.002	0.11217	B	0.000025	0.55875	N	0.155766	0.924808	0.36786	D	-0.365	0.03101	N	1.02	0.40749	T	-0.52	0.16187	N	0.214	0.23884	-1.0699	0.09436	T	0.037	0.16029	T	10	0.009992003	0.00224	T	0.007808	0.20720	T	0.051	0.14325	.	.	0.744016184196	0.74171	0.09260096640162291	0.09192	0.4444184419	0.44352	0.54843300581	0.45636	T	0.251322	0.62155	T	-0.63351	0.00091	T	-0.678624	0.07068	T	0.00664532987707668	0.00074	T	0.838016	0.51077	T	0.071839675	0.15934	0.058168314	0.10702	0.068215445	0.14841	0.05477073	0.09482	-2.871	0.09457	T	.	.	0.070	0.03588	B	.;.	.;.	2.380024	0.30549	18.47	0.78508673721265021	0.12331	0.63765	0.32192	D	AEFGBHCI	0.191231	0.31843	N	-0.441412537170882	0.24032	1.294791	-0.230825291135265	0.30438	1.713779	0.999999991391186	0.74766	0.736574	0.97449	0	0.696144	0.67643	0	0.732669	0.93749	0	0.711	0.71501	0	.	.	5.27	4.09	0.47038	1.661000	0.37024	6.079000	0.53329	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.1014:0.0:0.8986	8.630	0.33072	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	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	748.43	34	chr9	92729208	.	T	C	748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.228;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.411;SOR=0.643	GT:AD:DP:GQ:PL	0/1:47,33:80:99:760,0,1239	9	0	1	0
chr9	95082711	95082711	T	C	exonic	AOPEP	.	nonsynonymous SNV	AOPEP:NM_032823:exon14:c.T2159C:p.F720S,AOPEP:NM_001193329:exon15:c.T2456C:p.F819S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.039706490216	7.7e-05	.	0.0002	0	0	0	0	0.0002	0	0.0007	0.0001682	26	154602	rs150812918	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	2.987e-05	2.236e-05	3.826e-05	0	0	0.0017	0.0001	0.0001	0.0006	9.856e-05	9.85e-05	7.708e-05	0.0001	0.0002	6.007e-05	4.88e-05	0.0001	9.898e-05	0	0	0	0	0	0	0	0.0002	0	0.0002	0.004	0.68238	D	0.003	0.76473	D	.	.	.	.	.	.	0.000000	0.84330	D	0.051360	0.99014	0.41096	D	.	.	.	2.43	0.19020	T	-3.13	0.66549	D	0.718	0.74644	-1.0742	0.08514	T	0.084	0.32843	T	10	0.2406894	0.41232	T	0.039706	0.58963	D	0.315	0.63694	.	.	0.492749560936	0.48908	0.5234601828303128	0.52270	0.680876912155	0.60020	.	.	.	.	.	.	-0.22582	0.17205	T	-0.201357	0.54517	T	0.264972388744354	0.23531	T	0.787321	0.42620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.66957	A	.;.;.	.;.;.	4.488772	0.70096	25.5	0.99802167677656395	0.88728	0.93289	0.57819	D	AEDGBCI	0.821810	0.74229	D	0.251704143755447	0.53723	3.54	0.192727860382566	0.49446	3.147837	0.999999999931184	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	5.33	4.18	0.48473	5.859000	0.69288	6.196000	0.54830	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.169000	0.20946	0.1295:0.0:0.0:0.8705	12.003	0.52536	174	0.93268	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1538.43	34	chr9	95082711	.	T	C	1538.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.531;DP=415;ExcessHet=0;FS=3.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.512;SOR=1.143	GT:AD:DP:GQ:PL	0/1:45,57:102:99:1550,0,1239	9	0	1	0
chr9	98796299	98796299	C	A	exonic	ANKS6	.	nonsynonymous SNV	ANKS6:NM_173551:exon1:c.G193T:p.V65F	Nephronophthisis 16, Autosomal recessive	406	1113	3	0	0	3	0.0013459	.	.	YES	459517	Inborn_genetic_diseases|ANKS6-related_disorder|Nephronophthisis_16	MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0014158,MedGen:C3809320,OMIM:615382,Orphanet:655	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.067	0.00494710684115	.	.	0.0051	0	0	0	.	0	0	0.0063	0.0002393	37	154602	rs745881769	0.0030	0.0025	0.0030	0.0029	0.0032	0.0029	0.0029	0.0031	0.0030	0.0002	0.0005	0	0.0002	0.0057	0.0016	0.0032	0.0021	0.0028	0.0020	0.0020	0.0021	0.0019	0.0029	0.0018	0.0017	0.0026	0.0025	0.0006	0	0.0013	0	0.0004	0.0034	0.0034	0.0029	0.0043	0.0023	0.138	0.25873	T	0.105	0.38016	T	0.001	0.07471	B	0.001	0.04355	B	0.999686	0.07957	N	1.000160	1	0.23043	N	1.445	0.36358	L	0.54	0.54911	T	-0.62	0.18248	N	0.329	0.36989	-0.9530	0.40450	T	0.131	0.44208	T	9	0.005586326	0.00124	T	0.004947	0.12473	T	0.067	0.19503	.	.	0.571554507246	0.56821	0.4328128993169649	0.43198	0.171333639152	0.19303	0.899980485439	0.96439	D	0.011195	0.10021	T	-0.503984	0.00543	T	-0.494934	0.22875	T	0.0162056839692269	0.00394	T	0.412159	0.10706	T	0.13579895	0.31504	0.12058416	0.29100	0.13579895	0.31504	0.12058416	0.29099	-6.54	0.50594	T	.	.	0.12	0.24767	B	.	.	0.787368	0.11578	8.169	0.59802407720170625	0.06310	0.13411	0.17841	N	AEFDBHCI	0.065209	0.12706	N	-0.883072384657308	0.11245	0.5416249	-0.984378642685159	0.10136	0.5085917	0.999999999027009	0.74766	0.65757	0.49021	0	0.552344	0.17405	0	0.619478	0.44681	0	0.638787	0.57140	0	.	.	0.715	0.715	0.17341	-0.640000	0.05537	0.456000	0.18569	0.280000	0.18617	0.000000	0.06391	0.989000	0.31174	0.013000	0.09966	.	.	.	791	0.46100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	579.43	23	chr9	98796299	.	C	A	579.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.844;DP=317;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-1.959;SOR=0.674	GT:AD:DP:GQ:PL	0/1:17,23:40:99:591,0,441	9	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	.	.	.	.	.	.	.	.	0.2778	2408.23	143	chr9	106974250	.	T	C	2408.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-3.227;DP=1108;ExcessHet=2.8389;FS=252.583;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.41;ReadPosRankSum=2.05;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,37:130:99:0|1:106974250_T_C:448,0,2700:106974250	4	0	5	1
chr9	114323218	114323218	G	A	exonic	ORM1	.	nonsynonymous SNV	ORM1:NM_000607:exon1:c.G85A:p.V29M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00303013056261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868794879	6.204e-06	8.893e-06	5.48e-06	6.936e-06	0.0002	2.92e-06	2.11e-06	2.64e-06	1.7e-06	3.002e-05	0	0	0	0	0.0002	6.338e-06	0	0	6.814e-06	1.319e-05	1.321e-05	0	1.515e-05	0	0	.	.	0	0	0	0	0	0	0	1.515e-05	0	0	0.116	0.28395	T	0.107	0.37730	T	.	.	.	.	.	.	0.000162	0.00496	N	4.216950	1	0.08975	N	.	.	.	3.05	0.08721	T	-0.37	0.13226	N	0.154	0.15888	-1.0229	0.22769	T	0.077	0.30798	T	10	0.08373502	0.13961	T	0.00303	0.06517	T	0.024	0.04979	0.265	0.21103	0.0482279557977	0.04254	0.4548616612830644	0.45404	1.76827272956	0.91258	0.261044919491	0.05016	T	.	.	.	-0.334351	0.05789	T	-0.718049	0.04891	T	0.0664085424174388	0.08138	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.30076	B	.	.	0.097240	0.04995	1.553	0.65740218776160819	0.07858	0.00697	0.02968	N	AEFDGBI	0.449416	0.50424	N	-1.38189862050674	0.02808	0.1245167	-1.50954157385283	0.02270	0.1041514	0.999993491371753	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.02	-7.53	0.01194	-0.751000	0.04908	0.438000	0.18395	-0.137000	0.12594	0.000000	0.06391	0.004000	0.18990	0.026000	0.12556	0.6625:0.0:0.2293:0.1082	8.422	0.31866	595	0.68488	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	914.43	33	chr9	114323218	.	G	A	914.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.674;DP=676;ExcessHet=0;FS=2.355;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.42;MQRankSum=-0.238;QD=2.66;ReadPosRankSum=0.273;SOR=0.886	GT:AD:DP:GQ:PL	0/1:276,68:344:99:926,0,7363	9	0	1	0
chr9	114329923	114329923	C	T	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon1:c.C19T:p.L7F	.	456	1055	10	1	0	12	0.00565504	.	.	.	2826335	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.054	.	0.0045	0.00419329	0.0106	0.0093	0.0128	0	0.0047	0.0137	0.0055	0.0028	0.0010373	27	26028	rs143336597	0.0030	0.0031	0.0031	0.0030	0.0100	0.0030	0.0029	0.0075	0.0067	0.0059	0.0049	0.0312	0	0.0019	0.0100	0.0024	0.0059	0.0014	0.0042	0.0043	0.0041	0.0043	0.0046	0.0038	0.0037	0.0039	0.0037	0.0046	0	0.0046	0.0292	0.0003	0.0027	0.0207	0.0030	0.0079	0.0011	0.103	0.30097	T	0.011	0.64786	D	1.0	0.90584	D	0.994	0.82059	D	0.007475	0.31378	N	0.203527	1	0.08975	N	2.14	0.59869	M	2.54	0.13916	T	-2.82	0.59545	D	0.33	0.37093	-0.9558	0.39952	T	0.166	0.50372	T	10	0.0045836866	0.00095	T	.	.	.	0.054	0.15330	.	.	0.31501682445	0.31101	0.3073696957865565	0.30649	1.63474285478	0.89300	.	.	.	0.090214	0.38538	T	-0.506014	0.00529	T	-0.498539	0.22499	T	0.0358126079362016	0.02948	T	0.660634	0.26999	T	0.100625806	0.23761	0.111952335	0.27009	0.100625806	0.23761	0.111952335	0.27008	-5.25	0.39445	T	.	.	0.13	0.27910	B	.	.	2.835497	0.37390	20.5	0.9739253131024681	0.33731	0.02043	0.06114	N	AEFDGBI	0.214987	0.34039	N	-0.153741131430986	0.35076	2.010137	-0.40007336570999	0.24996	1.371993	0.999993289566918	0.74766	0.497415	0.19182	0	0.550933	0.16991	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	2.77	1.87	0.24559	0.953000	0.28759	3.431000	0.38316	0.291000	0.18778	0.133000	0.23395	0.998000	0.33993	0.492000	0.28837	0.0:0.8448:0.0:0.1552	5.554	0.16392	620	0.66037	.	.	.	.	.	.	Likely benign	0	0	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	0.017610	0.010417	0.029086	0.008929	0.100000	0.008621	0.004000	0.004348	0.1	841.14	20	chr9	114329923	.	C	T	841.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.36;DP=231;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=36.69;MQRankSum=0.565;QD=19.56;ReadPosRankSum=1.06;SOR=0.36	GT:AD:DP:GQ:PL	0/1:9,14:23:99:473,0,271	8	0	2	0
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	.	.	.	.	.	.	.	.	0.3333	1608.71	231	chr9	114406374	.	C	G	1608.71	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-3.344;DP=1986;ExcessHet=4.5998;FS=133.457;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=0.598;SOR=11.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:179,45:235:99:.:.:187,0,3470:.	3	0	6	1
chr9	116698964	116698964	C	T	exonic	TRIM32	.	nonsynonymous SNV	TRIM32:NM_001099679:exon2:c.C1222T:p.R408C,TRIM32:NM_001379049:exon2:c.C1222T:p.R408C,TRIM32:NM_001379050:exon2:c.C1222T:p.R408C,TRIM32:NM_012210:exon2:c.C1222T:p.R408C,TRIM32:NM_001379048:exon3:c.C1222T:p.R408C	Muscular dystrophy, limb-girdle, type 2H, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	106460	not_specified|not_provided|Bardet-Biedl_syndrome|Sarcotubular_myopathy|Bardet-Biedl_syndrome_11	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0009683,MedGen:C0270968,OMIM:254110,Orphanet:1878|MONDO:MONDO:0014439,MedGen:C1859569,OMIM:615988,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.519	0.15380590215	0.0015	0.000798722	0.0014	0.0004	0.0004	0.0002	0	0.0021	0	0.0015	0.0013842	214	154602	rs3747835	0.0017	0.0017	0.0018	0.0017	0.0019	0.0017	0.0016	0.0018	0.0018	0.0004	0.0006	0.0058	0.0007	3.747e-05	0.0002	0.0019	0.0015	0.0013	0.0011	0.0011	0.0012	0.0010	0.0018	0.0010	0.0010	0.0015	0.0014	0.0003	0	0.0009	0.0040	0.0002	0	0	0.0018	0.0024	0.0012	0.001	0.78490	D	0.0	0.92824	D	0.996	0.68779	D	0.703	0.54270	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	-2.68	0.90391	D	-2.51	0.54546	D	0.721	0.72299	0.201	0.85918	D	0.634	0.87179	D	9	0.024597973	0.00682	T	0.153806	0.83502	D	0.519	0.79522	.	.	0.974609669287	0.97433	0.754966640632985	0.75443	0.91729132677	0.71283	0.771461009979	0.77643	T	0.553567	0.84927	D	0.00608991	0.52491	T	0.229187	0.84631	D	0.0537024562211095	0.06139	T	0.949105	0.80429	D	0.38659096	0.59789	0.26819614	0.52686	0.33348995	0.55755	0.22271717	0.47125	-3.536	0.16940	T	.	.	0.252	0.49383	B	.;.	.;.	5.217261	0.87555	29.3	0.99908777165075024	0.97875	0.97181	0.73167	D	AEFDBI	0.761866	0.69945	D	0.4590343015275	0.64716	4.732678	0.525650914663359	0.69722	5.401061	0.999999999494442	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.476000	0.59950	7.705000	0.66497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1495:0.8505:0.0:0.0	14.202	0.65251	895	0.25842	.;.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	4198.14	148	chr9	116698964	.	C	T	4198.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.49;DP=586;ExcessHet=0.2348;FS=3.151;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.884;SOR=0.659	GT:AD:DP:GQ:PL	0/1:68,78:146:99:2197,0,1676	8	0	2	0
chr9	121107948	121107948	C	G	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001369893:exon7:c.C955G:p.Q319E,CNTRL:NM_001369894:exon7:c.C955G:p.Q319E,CNTRL:NM_001369895:exon7:c.C454G:p.Q152E,CNTRL:NM_001369896:exon7:c.C955G:p.Q319E,CNTRL:NM_007018:exon8:c.C955G:p.Q319E	.	.	.	.	.	.	.	.	.	.	.	3304949	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.0107474332903	.	.	2.529e-05	0	0	0	0.0002	1.536e-05	0	6.182e-05	1.94e-05	3	154602	rs1174581971	4.345e-05	4.446e-05	3.844e-05	4.852e-05	0.0002	3.471e-05	3.155e-05	3.642e-05	3.298e-05	0	0	0	0	0.0001	0.0002	4.691e-05	1.671e-05	2.381e-05	3.945e-05	3.941e-05	3.856e-05	4.039e-05	5.882e-05	1.716e-05	1.13e-05	1.972e-05	1.125e-05	2.415e-05	0	0	0	0	9.439e-05	0	5.882e-05	0	0	0.435	0.21550	T	0.62	0.57587	T	0.044	0.21686	B	0.014	0.16862	B	.	.	.	.	0.930045	0.29103	N	1.21	0.30464	L	1.9	0.23486	T	0.31	0.04022	N	0.302	0.34552	-1.0430	0.16413	T	0.044	0.18906	T	9	0.064575344	0.08585	T	0.010747	0.27641	T	0.085	0.24743	.	.	0.207176502487	0.20327	0.17562610627883982	0.17481	0.0720572644519	0.08078	0.306818664074	0.11426	T	0.01129	0.11764	T	-0.36416	0.03900	T	-0.576224	0.14883	T	0.0955178562064553	0.11857	T	0.868713	0.57175	D	0.13095072	0.30540	0.14275065	0.33949	0.13095072	0.30540	0.14275065	0.33948	-4.604	0.32222	T	.	.	0.076	0.08176	B	.;.;.	.;.;.	2.951608	0.39279	20.9	0.97714817121095399	0.35519	0.94044	0.59944	D	AEFDGBI	0.403973	0.47744	N	-0.165913787867927	0.34561	1.974105	0.064393942992836	0.42772	2.593072	0.999999971909924	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.98	5.98	0.97147	3.253000	0.51170	5.998000	0.52441	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.1484:0.8516:0.0:0.0	14.301	0.65906	933	0.16026	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	552.43	34	chr9	121107948	.	C	G	552.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.565;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=0.814;SOR=0.874	GT:AD:DP:GQ:PL	0/1:16,22:38:99:564,0,426	9	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.5	6507.37	305	chr9	122724732	.	T	C	6507.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=7.17;DP=3293;ExcessHet=7.0302;FS=29.826;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=58.43;MQRankSum=-15.33;QD=2.86;ReadPosRankSum=-7.039;SOR=4.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,39:331:99:0|1:122724732_T_C:667,0,11975:122724732	0	0	7	3
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	4321.95	292	chr9	122724738	.	T	C	4321.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.576;DP=2474;ExcessHet=7.0302;FS=34.706;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.47;MQRankSum=-16.72;QD=1.99;ReadPosRankSum=-5.814;SOR=6.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,32:319:99:0|1:122724732_T_C:480,0,11907:122724732	3	0	7	0
chr9	123381490	123381490	A	C	exonic	DENND1A	.	nonsynonymous SNV	DENND1A:NM_001352965:exon21:c.T3005G:p.L1002R,DENND1A:NM_020946:exon22:c.T2972G:p.L991R,DENND1A:NM_001352964:exon24:c.T3155G:p.L1052R	.	418	1095	8	1	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00580822536864	.	.	0.0003	0	8.684e-05	0	0	6.105e-05	0	0.0017	0.0002135	33	154602	rs761567995	0.0001	0.0001	6.809e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0009	2.788e-05	9.936e-05	0.0016	6.58e-05	6.57e-05	1.287e-05	0.0001	0.0015	3.521e-05	2.619e-05	0.0007	0.0005	0	0	0	0	0	0	0	4.412e-05	0	0.0015	0.264	0.16358	T	0.611	0.07666	T	0.032	0.20242	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	3.4	0.05642	T	-0.13	0.08971	N	0.167	0.17691	-1.0029	0.29080	T	0.023	0.09650	T	9	0.009923577	0.00222	T	0.005808	0.15101	T	0.035	0.08770	0.314	0.28935	0.0934897674506	0.08844	0.1352859953289202	0.13452	0.437939336455	0.43833	0.435364663601	0.29943	T	0.015486	0.12979	T	-0.607878	0.00130	T	-0.670579	0.07571	T	0.0343726402714769	0.02701	T	0.336666	0.07200	T	0.08632154	0.20061	0.07434975	0.16256	0.08632154	0.20060	0.07434975	0.16256	-3.857	0.21659	T	.	.	0.059	0.00730	B	.	.	1.566889	0.20063	14.57	0.7530031508259345	0.11022	0.50479	0.28672	D	AEFBI	0.161629	0.28771	N	-1.0805233358307	0.07003	0.3240166	-1.07647465512032	0.08165	0.4002653	0.987480657549588	0.31276	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	1.48	0.358	0.15319	-0.559000	0.06062	5.605000	0.49037	-0.534000	0.04951	0.958000	0.33488	1.000000	0.68203	0.112000	0.18829	0.2498:0.0:0.7502:0.0	3.898	0.08652	379	0.83778	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.000000	0.1	1320.14	69	chr9	123381490	.	A	C	1320.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.34;DP=436;ExcessHet=0.2348;FS=1.317;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=-0.257;SOR=0.823	GT:AD:DP:GQ:PL	0/1:57,32:89:99:703,0,1345	8	0	2	0
chr9	124809919	124809919	A	G	exonic	OLFML2A	.	nonsynonymous SNV	OLFML2A:NM_001282715:exon5:c.A824G:p.Y275C,OLFML2A:NM_182487:exon8:c.A1466G:p.Y489C	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.834	0.453220146344	.	.	8.246e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs755296510	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.043	0.49942	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.735	0.94896	H	1.34	0.90792	T	-7.78	0.96946	D	0.958	0.96758	0.930	0.96097	D	0.866	0.95540	D	10	0.97341084	0.97017	D	0.45322	0.94380	D	0.834	0.94765	0.879	0.96784	0.831291030339	0.82968	0.9413621503062691	0.94117	0.589731283567	0.54461	0.902047157288	0.96664	D	0.845578	0.96437	D	0.423078	0.91181	D	0.467	0.93948	D	0.998443901538849	0.94168	D	0.973203	0.90384	D	0.9276174	0.93999	0.917786	0.96242	0.9276174	0.93999	0.917786	0.96243	-11.519	0.82653	D	.	.	0.988	0.93122	P	.;.	.;.	5.157570	0.86402	28.9	0.99816671914816302	0.89973	0.92238	0.55254	D	AEFDGBCI	0.837495	0.75512	D	0.836839570401464	0.88347	9.544126	0.814102783278942	0.90757	10.55431	1.0	0.98316	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	6.07	6.07	0.98675	7.488000	0.80254	11.301000	0.92311	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.81	0.78327	828	0.39726	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2049.43	36	chr9	124809919	.	A	G	2049.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.67;DP=537;ExcessHet=0;FS=0.516;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=1.32;SOR=0.621	GT:AD:DP:GQ:PL	0/1:132,83:215:99:2061,0,3238	9	0	1	0
chr9	128471451	128471451	G	C	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001242354:exon5:c.G321C:p.E107D,ODF2:NM_001351581:exon5:c.G696C:p.E232D,ODF2:NM_001351587:exon5:c.G378C:p.E126D,ODF2:NM_001351588:exon5:c.G321C:p.E107D,ODF2:NM_153432:exon5:c.G696C:p.E232D,ODF2:NM_153436:exon5:c.G564C:p.E188D,ODF2:NM_153439:exon5:c.G639C:p.E213D,ODF2:NM_153440:exon5:c.G507C:p.E169D,ODF2:NM_001242352:exon6:c.G549C:p.E183D,ODF2:NM_001242353:exon6:c.G564C:p.E188D,ODF2:NM_001351577:exon6:c.G813C:p.E271D,ODF2:NM_001351578:exon6:c.G813C:p.E271D,ODF2:NM_001351579:exon6:c.G549C:p.E183D,ODF2:NM_001351583:exon6:c.G492C:p.E164D,ODF2:NM_001351584:exon6:c.G549C:p.E183D,ODF2:NM_001351586:exon6:c.G492C:p.E164D,ODF2:NM_153433:exon6:c.G564C:p.E188D,ODF2:NM_153435:exon6:c.G756C:p.E252D,ODF2:NM_153437:exon6:c.G507C:p.E169D,ODF2:NM_001351580:exon7:c.G549C:p.E183D,ODF2:NM_001351582:exon7:c.G681C:p.E227D,ODF2:NM_001351585:exon7:c.G549C:p.E183D,ODF2:NM_002540:exon8:c.G492C:p.E164D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0166346059729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.28900	T	0.139	0.48080	T	0.226	0.44333	B	0.103	0.36167	B	0.000008	0.62929	D	0.143248	0.901159	0.81001	D	1.575	0.39704	L	1.02	0.40749	T	-0.91	0.32185	N	0.579	0.61511	-1.1024	0.03813	T	0.068	0.27743	T	10	0.1288071	0.24505	T	0.016635	0.37992	T	0.094	0.27141	0.121	0.02793	0.401042353794	0.39719	0.12333671724372855	0.12259	0.502098271632	0.48579	0.731422185898	0.71714	T	0.213179	0.57442	T	-0.117402	0.33549	T	-0.406416	0.32640	T	0.383795946836472	0.28328	T	0.927907	0.73422	D	0.06773043	0.14695	0.0892156	0.20851	0.06773043	0.14695	0.0892156	0.20850	-4.915	0.36764	T	.	.	0.248	0.48397	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.656305	0.34597	19.67	0.99272225022966964	0.57593	0.76153	0.37328	D	AEFDGBI	0.205794	0.33212	N	-0.194956062371926	0.33343	1.890656	-0.0827227240559959	0.36103	2.096917	0.989390783988164	0.31812	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.76	2.92	0.32998	0.653000	0.24588	2.984000	0.35852	-0.216000	0.08207	1.000000	0.71638	1.000000	0.68203	0.825000	0.38878	0.3786:0.0:0.6214:0.0	8.115	0.30098	478	0.77585	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	169.73	38	chr9	128471451	.	G	C	169.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-3.93;DP=518;ExcessHet=0;FS=47.041;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=2.75;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,15:108:99:0|1:128471451_G_C:180,0,3620:128471451	7	0	1	2
chr9	128471452	128471452	G	C	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001242354:exon5:c.G322C:p.E108Q,ODF2:NM_001351581:exon5:c.G697C:p.E233Q,ODF2:NM_001351587:exon5:c.G379C:p.E127Q,ODF2:NM_001351588:exon5:c.G322C:p.E108Q,ODF2:NM_153432:exon5:c.G697C:p.E233Q,ODF2:NM_153436:exon5:c.G565C:p.E189Q,ODF2:NM_153439:exon5:c.G640C:p.E214Q,ODF2:NM_153440:exon5:c.G508C:p.E170Q,ODF2:NM_001242352:exon6:c.G550C:p.E184Q,ODF2:NM_001242353:exon6:c.G565C:p.E189Q,ODF2:NM_001351577:exon6:c.G814C:p.E272Q,ODF2:NM_001351578:exon6:c.G814C:p.E272Q,ODF2:NM_001351579:exon6:c.G550C:p.E184Q,ODF2:NM_001351583:exon6:c.G493C:p.E165Q,ODF2:NM_001351584:exon6:c.G550C:p.E184Q,ODF2:NM_001351586:exon6:c.G493C:p.E165Q,ODF2:NM_153433:exon6:c.G565C:p.E189Q,ODF2:NM_153435:exon6:c.G757C:p.E253Q,ODF2:NM_153437:exon6:c.G508C:p.E170Q,ODF2:NM_001351580:exon7:c.G550C:p.E184Q,ODF2:NM_001351582:exon7:c.G682C:p.E228Q,ODF2:NM_001351585:exon7:c.G550C:p.E184Q,ODF2:NM_002540:exon8:c.G493C:p.E165Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0230031762802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.91255	T	0.031	0.60337	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.045985	0.999935	0.81001	D	2.095	0.58118	M	0.97	0.42502	T	-1.92	0.47008	N	0.638	0.73465	-0.7974	0.55298	T	0.238	0.60499	T	10	0.32650283	0.49946	T	0.023003	0.45934	T	0.192	0.47115	0.12	0.02719	0.616667881983	0.61357	0.3266749509537722	0.32580	1.23280134682	0.81395	0.741498470306	0.73194	T	0.343793	0.71239	T	-0.0112261	0.50094	T	-0.253902	0.49432	T	0.868653256777238	0.51861	D	0.971703	0.89869	D	0.24482176	0.47435	0.27271095	0.53184	0.24482176	0.47435	0.27271095	0.53183	-6.05	0.48349	T	.	.	0.381	0.59677	A	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.723906	0.76021	26.4	0.99785871404756998	0.87219	0.95343	0.64351	D	AEFDGBI	0.704226	0.66001	D	0.710562824417323	0.80326	7.269384	0.719590889231748	0.83868	8.135616	0.999999990881799	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	6.626000	0.74117	11.752000	0.95431	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:0.0:1.0:0.0	18.514	0.90880	478	0.77585	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	169.73	38	chr9	128471452	.	G	C	169.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.718;DP=521;ExcessHet=0;FS=47.041;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=2.68;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,15:108:99:0|1:128471451_G_C:180,0,3620:128471451	7	0	1	2
chr9	128471454	128471454	G	C	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001242354:exon5:c.G324C:p.E108D,ODF2:NM_001351581:exon5:c.G699C:p.E233D,ODF2:NM_001351587:exon5:c.G381C:p.E127D,ODF2:NM_001351588:exon5:c.G324C:p.E108D,ODF2:NM_153432:exon5:c.G699C:p.E233D,ODF2:NM_153436:exon5:c.G567C:p.E189D,ODF2:NM_153439:exon5:c.G642C:p.E214D,ODF2:NM_153440:exon5:c.G510C:p.E170D,ODF2:NM_001242352:exon6:c.G552C:p.E184D,ODF2:NM_001242353:exon6:c.G567C:p.E189D,ODF2:NM_001351577:exon6:c.G816C:p.E272D,ODF2:NM_001351578:exon6:c.G816C:p.E272D,ODF2:NM_001351579:exon6:c.G552C:p.E184D,ODF2:NM_001351583:exon6:c.G495C:p.E165D,ODF2:NM_001351584:exon6:c.G552C:p.E184D,ODF2:NM_001351586:exon6:c.G495C:p.E165D,ODF2:NM_153433:exon6:c.G567C:p.E189D,ODF2:NM_153435:exon6:c.G759C:p.E253D,ODF2:NM_153437:exon6:c.G510C:p.E170D,ODF2:NM_001351580:exon7:c.G552C:p.E184D,ODF2:NM_001351582:exon7:c.G684C:p.E228D,ODF2:NM_001351585:exon7:c.G552C:p.E184D,ODF2:NM_002540:exon8:c.G495C:p.E165D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0233334582555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.91255	D	0.056	0.52727	T	0.947	0.53479	P	0.58	0.56524	P	0.000000	0.84330	D	0.045985	0.987477	0.81001	D	1.745	0.45235	L	1.01	0.41058	T	-1.61	0.52776	N	0.572	0.65159	-1.0311	0.20099	T	0.130	0.43989	T	10	0.22031954	0.38726	T	0.023333	0.46285	T	0.168	0.42943	0.088	0.00943	0.463758542814	0.46003	0.23630502984554985	0.23545	1.0971431111	0.77615	0.749033868313	0.74304	T	0.219152	0.58208	T	-0.0509196	0.44307	T	-0.310919	0.43559	T	0.798595607280731	0.46258	D	0.959604	0.84924	D	0.23264228	0.46055	0.22669865	0.47656	0.23264228	0.46055	0.22669865	0.47655	-4.984	0.37218	T	.	.	0.268	0.51445	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.735369	0.35818	20.0	0.99757545569604689	0.84772	0.83147	0.42289	D	AEFDGBI	0.245836	0.36670	N	0.0983866176571002	0.46386	2.879856	0.117416914727211	0.45440	2.807099	0.984940412026	0.30801	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.57	2.36	0.28258	2.334000	0.43579	2.891000	0.35390	-0.201000	0.08892	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	0.3051:0.0:0.6949:0.0	9.439	0.37821	478	0.77585	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	171.44	38	chr9	128471454	.	G	C	171.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.654;DP=550;ExcessHet=0;FS=50.815;InbreedingCoeff=-0.0536;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.6;ReadPosRankSum=2.51;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,15:107:99:0|1:128471451_G_C:183,0,3588:128471451	9	0	1	0
chr9	128471457	128471457	G	C	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001242354:exon5:c.G327C:p.K109N,ODF2:NM_001351581:exon5:c.G702C:p.K234N,ODF2:NM_001351587:exon5:c.G384C:p.K128N,ODF2:NM_001351588:exon5:c.G327C:p.K109N,ODF2:NM_153432:exon5:c.G702C:p.K234N,ODF2:NM_153436:exon5:c.G570C:p.K190N,ODF2:NM_153439:exon5:c.G645C:p.K215N,ODF2:NM_153440:exon5:c.G513C:p.K171N,ODF2:NM_001242352:exon6:c.G555C:p.K185N,ODF2:NM_001242353:exon6:c.G570C:p.K190N,ODF2:NM_001351577:exon6:c.G819C:p.K273N,ODF2:NM_001351578:exon6:c.G819C:p.K273N,ODF2:NM_001351579:exon6:c.G555C:p.K185N,ODF2:NM_001351583:exon6:c.G498C:p.K166N,ODF2:NM_001351584:exon6:c.G555C:p.K185N,ODF2:NM_001351586:exon6:c.G498C:p.K166N,ODF2:NM_153433:exon6:c.G570C:p.K190N,ODF2:NM_153435:exon6:c.G762C:p.K254N,ODF2:NM_153437:exon6:c.G513C:p.K171N,ODF2:NM_001351580:exon7:c.G555C:p.K185N,ODF2:NM_001351582:exon7:c.G687C:p.K229N,ODF2:NM_001351585:exon7:c.G555C:p.K185N,ODF2:NM_002540:exon8:c.G498C:p.K166N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0167309592781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.803e-06	0.0002	2.731e-06	6.895e-06	6.002e-05	2e-06	1.28e-06	9.94e-06	3.72e-06	6.002e-05	0	0	0	0	0	3.608e-06	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.28395	T	0.171	0.67890	T	0.115	0.35330	B	0.03	0.26820	B	0.000027	0.55875	D	0.155966	0.986513	0.81001	D	1.24	0.30952	L	0.93	0.44065	T	-1.13	0.41239	N	0.631	0.66443	-1.0823	0.06908	T	0.071	0.28936	T	10	0.16474134	0.30812	T	0.016731	0.38123	T	0.040	0.10527	0.427	0.47350	0.641141256235	0.63818	0.22022778778274033	0.21938	0.516649995381	0.49549	0.776209056377	0.78356	T	0.195828	0.55203	T	-0.140142	0.29869	T	-0.439081	0.28912	T	0.510702610015869	0.33023	D	0.920508	0.71260	D	0.10514248	0.24859	0.112948	0.27256	0.10514248	0.24858	0.112948	0.27255	-4.839	0.35202	T	.	.	0.677	0.74532	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.289654	0.29282	18.07	0.99115970012995813	0.52854	0.84272	0.43354	D	AEFDGBI	0.231935	0.35509	N	-0.20543102583687	0.32910	1.861282	-0.0511924639671241	0.37439	2.192077	0.999662616212298	0.41534	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.76	4.86	0.62624	2.236000	0.42700	3.029000	0.36034	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.730000	0.35099	0.1531:0.0:0.8469:0.0	10.899	0.46252	478	0.77585	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	182.53	70	chr9	128471457	.	G	C	182.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.97;DP=541;ExcessHet=0;FS=45.491;InbreedingCoeff=-0.143;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=2.33;SOR=5.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,15:104:99:0|1:128471451_G_C:192,0,3488:128471451	6	0	1	3
chr9	128471458	128471458	G	C	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001242354:exon5:c.G328C:p.D110H,ODF2:NM_001351581:exon5:c.G703C:p.D235H,ODF2:NM_001351587:exon5:c.G385C:p.D129H,ODF2:NM_001351588:exon5:c.G328C:p.D110H,ODF2:NM_153432:exon5:c.G703C:p.D235H,ODF2:NM_153436:exon5:c.G571C:p.D191H,ODF2:NM_153439:exon5:c.G646C:p.D216H,ODF2:NM_153440:exon5:c.G514C:p.D172H,ODF2:NM_001242352:exon6:c.G556C:p.D186H,ODF2:NM_001242353:exon6:c.G571C:p.D191H,ODF2:NM_001351577:exon6:c.G820C:p.D274H,ODF2:NM_001351578:exon6:c.G820C:p.D274H,ODF2:NM_001351579:exon6:c.G556C:p.D186H,ODF2:NM_001351583:exon6:c.G499C:p.D167H,ODF2:NM_001351584:exon6:c.G556C:p.D186H,ODF2:NM_001351586:exon6:c.G499C:p.D167H,ODF2:NM_153433:exon6:c.G571C:p.D191H,ODF2:NM_153435:exon6:c.G763C:p.D255H,ODF2:NM_153437:exon6:c.G514C:p.D172H,ODF2:NM_001351580:exon7:c.G556C:p.D186H,ODF2:NM_001351582:exon7:c.G688C:p.D230H,ODF2:NM_001351585:exon7:c.G556C:p.D186H,ODF2:NM_002540:exon8:c.G499C:p.D167H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0242294585437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.501e-06	0.0002	5.475e-06	5.527e-06	3.006e-05	2.37e-06	1.71e-06	2.63e-06	1.69e-06	3.006e-05	0	0	0	0	0	6.331e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.68238	D	0.016	0.70582	D	1.0	0.90584	D	0.986	0.76916	D	0.000044	0.53742	D	0.191960	0.999801	0.81001	D	1.7	0.43825	L	0.87	0.46412	T	-1.36	0.61129	N	0.344	0.42443	-0.8397	0.52666	T	0.225	0.58881	T	10	0.30612516	0.48125	T	0.024229	0.47216	T	0.168	0.42943	0.462	0.53079	0.762248554271	0.76008	0.45467430635919104	0.45385	0.641388026801	0.57735	0.739772558212	0.72940	T	0.32598	0.69665	T	2.67742e-05	0.51657	T	-0.237738	0.51019	T	0.713379740715027	0.41366	D	0.971303	0.90384	D	0.10107114	0.23872	0.16460241	0.38122	0.10107114	0.23871	0.16460241	0.38121	-5.77	0.45707	T	.	.	0.610	0.72778	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.659415	0.74356	26.1	0.99474712445572377	0.66525	0.95343	0.64351	D	AEFDGBI	0.677414	0.64212	D	0.641967477441165	0.75848	6.379389	0.63928169438349	0.77817	6.752567	0.999999990881799	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	4.944000	0.63262	11.752000	0.95431	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.686000	0.33718	0.0:0.0:1.0:0.0	18.514	0.90880	478	0.77585	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	177.43	39	chr9	128471458	.	G	C	177.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.184;DP=474;ExcessHet=0;FS=44.944;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=2.3;SOR=5.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,15:105:99:0|1:128471451_G_C:189,0,3530:128471451	9	0	1	0
chr9	128471461	128471461	T	C	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001242354:exon5:c.T331C:p.F111L,ODF2:NM_001351581:exon5:c.T706C:p.F236L,ODF2:NM_001351587:exon5:c.T388C:p.F130L,ODF2:NM_001351588:exon5:c.T331C:p.F111L,ODF2:NM_153432:exon5:c.T706C:p.F236L,ODF2:NM_153436:exon5:c.T574C:p.F192L,ODF2:NM_153439:exon5:c.T649C:p.F217L,ODF2:NM_153440:exon5:c.T517C:p.F173L,ODF2:NM_001242352:exon6:c.T559C:p.F187L,ODF2:NM_001242353:exon6:c.T574C:p.F192L,ODF2:NM_001351577:exon6:c.T823C:p.F275L,ODF2:NM_001351578:exon6:c.T823C:p.F275L,ODF2:NM_001351579:exon6:c.T559C:p.F187L,ODF2:NM_001351583:exon6:c.T502C:p.F168L,ODF2:NM_001351584:exon6:c.T559C:p.F187L,ODF2:NM_001351586:exon6:c.T502C:p.F168L,ODF2:NM_153433:exon6:c.T574C:p.F192L,ODF2:NM_153435:exon6:c.T766C:p.F256L,ODF2:NM_153437:exon6:c.T517C:p.F173L,ODF2:NM_001351580:exon7:c.T559C:p.F187L,ODF2:NM_001351582:exon7:c.T691C:p.F231L,ODF2:NM_001351585:exon7:c.T559C:p.F187L,ODF2:NM_002540:exon8:c.T502C:p.F168L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00351134207786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.157e-06	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	0.09128	T	0.814	0.05747	T	0.001	0.07471	B	0.001	0.04355	B	0.528505	0.11664	N	0.817357	1	0.08975	N	-0.84	0.01504	N	0.98	0.42122	T	0.31	0.12661	N	0.145	0.19728	-1.0137	0.25752	T	0.046	0.19720	T	10	0.048041523	0.04201	T	0.003511	0.07969	T	0.030	0.07022	0.219	0.14078	0.277317399466	0.27352	0.06315480408183377	0.06254	0.477435573675	0.46858	0.641730904579	0.58811	T	0.055381	0.29991	T	-0.226563	0.17105	T	-0.563219	0.16076	T	0.0153747806325555	0.00343	T	0.824917	0.48720	T	0.046132233	0.07671	0.040154662	0.04276	0.046132233	0.07670	0.040154662	0.04276	-2.129	0.04199	T	.	.	0.404	0.65194	A	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.625186	0.20752	14.89	0.74901446670973149	0.10870	0.23441	0.22077	N	AEFDGBI	0.074471	0.14928	N	-0.81960896987103	0.12810	0.6268263	-0.718259045074697	0.16506	0.8735139	0.982019283789759	0.30340	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.76	2.06	0.25932	2.008000	0.40513	4.187000	0.42377	0.577000	0.29297	0.843000	0.30332	1.000000	0.68203	0.461000	0.28141	0.1341:0.2242:0.0:0.6417	4.559	0.11548	478	0.77585	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	183.43	39	chr9	128471461	.	T	C	183.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.153;DP=474;ExcessHet=0;FS=44.973;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=2.03;SOR=5.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,15:103:99:0|1:128471451_G_C:195,0,3446:128471451	9	0	1	0
chr9	128471462	128471462	T	C	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001242354:exon5:c.T332C:p.F111S,ODF2:NM_001351581:exon5:c.T707C:p.F236S,ODF2:NM_001351587:exon5:c.T389C:p.F130S,ODF2:NM_001351588:exon5:c.T332C:p.F111S,ODF2:NM_153432:exon5:c.T707C:p.F236S,ODF2:NM_153436:exon5:c.T575C:p.F192S,ODF2:NM_153439:exon5:c.T650C:p.F217S,ODF2:NM_153440:exon5:c.T518C:p.F173S,ODF2:NM_001242352:exon6:c.T560C:p.F187S,ODF2:NM_001242353:exon6:c.T575C:p.F192S,ODF2:NM_001351577:exon6:c.T824C:p.F275S,ODF2:NM_001351578:exon6:c.T824C:p.F275S,ODF2:NM_001351579:exon6:c.T560C:p.F187S,ODF2:NM_001351583:exon6:c.T503C:p.F168S,ODF2:NM_001351584:exon6:c.T560C:p.F187S,ODF2:NM_001351586:exon6:c.T503C:p.F168S,ODF2:NM_153433:exon6:c.T575C:p.F192S,ODF2:NM_153435:exon6:c.T767C:p.F256S,ODF2:NM_153437:exon6:c.T518C:p.F173S,ODF2:NM_001351580:exon7:c.T560C:p.F187S,ODF2:NM_001351582:exon7:c.T692C:p.F231S,ODF2:NM_001351585:exon7:c.T560C:p.F187S,ODF2:NM_002540:exon8:c.T503C:p.F168S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00868394040172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.43085	T	0.402	0.59732	T	0.037	0.37095	B	0.029	0.30674	B	0.528505	0.11664	N	0.817357	1	0.08975	N	0.55	0.14455	N	0.98	0.42122	T	-1.02	0.37759	N	0.393	0.49237	-1.0348	0.18920	T	0.057	0.23828	T	10	0.048764348	0.04372	T	0.008684	0.22927	T	0.098	0.28162	0.269	0.21735	0.322230723748	0.31824	0.22923499452312188	0.22838	0.737364546988	0.63054	0.613394737244	0.54796	T	0.153986	0.49507	T	-0.197851	0.21114	T	-0.521976	0.20094	T	0.102360391826658	0.12615	T	0.915608	0.70013	D	0.09602146	0.22609	0.11241231	0.27124	0.09602146	0.22609	0.11241231	0.27123	-1.473	0.01854	T	.	.	0.360	0.63679	A	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.687439	0.10558	7.269	0.68009979535922627	0.08527	0.11537	0.16699	N	AEFDGBI	0.078621	0.15866	N	-1.84555714039798	0.00443	0.01905359	-1.86605650147063	0.00570	0.02529639	0.999674649997793	0.41644	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.76	-6.03	0.02001	0.352000	0.19851	0.348000	0.17448	-1.125000	0.01466	0.335000	0.25632	0.122000	0.22912	0.389000	0.26536	0.6232:0.0:0.0:0.3767	14.930	0.70556	478	0.77585	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	189.43	39	chr9	128471462	.	T	C	189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.452;DP=480;ExcessHet=0;FS=43.797;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=1.87;SOR=5.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,15:101:99:0|1:128471451_G_C:201,0,3362:128471451	9	0	1	0
chr9	128634837	128634837	C	T	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1066A:p.G356S	.	415	1082	24	1	0	26	0.0118721	.	.	.	458911	Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|DYNC2I2-related_disorder|not_provided	MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.111733181486	0.0028	0.00339457	0.0044	0.0005	0.0064	0	0.0006	0.0046	0.0050	0.0077	0.0036998	572	154602	rs17849504	0.0029	0.0030	0.0026	0.0033	0.0083	0.0029	0.0028	0.0078	0.0076	0.0004	0.0043	0.0083	5.039e-05	0.0015	0.0080	0.0025	0.0039	0.0083	0.0027	0.0027	0.0027	0.0026	0.0079	0.0024	0.0024	0.0059	0.0052	0.0005	0	0.0020	0.0101	0.0004	0.0019	0.0102	0.0037	0.0024	0.0079	0.164	0.23360	T	0.187	0.28764	T	0.402	0.34891	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	1.65	0.27650	T	-2.12	0.48184	N	0.635	0.64818	-1.0853	0.06353	T	0.061	0.25635	T	10	0.014472216	0.00304	T	0.111733	0.78962	D	0.183	0.45592	.	.	0.350524144436	0.34660	0.663641422864043	0.66301	0.353134030552	0.37127	0.622149705887	0.56032	T	0.057986	0.30717	T	-0.169954	0.25242	T	-0.012058	0.69550	D	0.0169857053249468	0.00448	T	0.785321	0.42297	T	0.29473332	0.52428	0.22070257	0.46855	0.29473332	0.52428	0.22070257	0.46854	-6.276	0.48532	T	.	.	0.150	0.33203	B	.	.	3.101871	0.41810	21.4	0.99747808364856505	0.84002	0.95916	0.66708	D	AEFDGBCI	0.831345	0.74990	D	0.0751261407202568	0.45305	2.789209	0.149914993195619	0.47136	2.948535	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	5.24	0.72863	5.642000	0.67561	7.528000	0.59870	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	17.824	0.88570	389	0.83303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.009537	0.002924	0.000000	0.000000	0.009146	0.026515	0.05	2402.43	34	chr9	128634837	.	C	T	2402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.012;DP=488;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-1.132;SOR=0.714	GT:AD:DP:GQ:PL	0/1:72,93:165:99:2414,0,1861	9	0	1	0
chr9	128792561	128792561	G	A	exonic	TBC1D13	.	nonsynonymous SNV	TBC1D13:NM_001286772:exon6:c.G370A:p.D124N,TBC1D13:NM_018201:exon6:c.G370A:p.D124N	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0189618039206	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs148490755	0.0001	0.0001	9.938e-05	0.0001	0.0019	9.092e-05	8.599e-05	0.0011	0.0008	0	0	3.827e-05	0	0	0.0019	0.0001	8.28e-05	3.479e-05	5.256e-05	5.253e-05	6.422e-05	4.035e-05	0.0001	2.557e-05	1.83e-05	5.841e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0	0.139	0.32610	T	0.141	0.37730	T	0.975	0.67487	D	0.691	0.68276	P	0.000006	0.62929	D	0.105878	1	0.81001	D	1.855	0.49169	L	3.55	0.04746	T	-3.94	0.73378	D	0.611	0.64393	-1.0141	0.25625	T	0.033	0.13986	T	10	0.46248522	0.59370	T	0.018962	0.41188	T	0.259	0.57090	.	.	0.525901189516	0.52236	0.67083721527319	0.67021	1.49269912333	0.86905	0.825783371925	0.85916	D	0.210932	0.57156	T	-0.329069	0.06182	T	-0.473793	0.25110	T	0.657600879669189	0.38790	D	0.940106	0.84976	D	0.3585236	0.57723	0.28389445	0.54385	0.3585236	0.57723	0.28389445	0.54384	-11.469	0.82168	D	.	.	0.810	0.79245	P	.;.	.;.	5.680525	0.92996	33	0.99933476637191954	0.99488	0.99634	0.98193	D	AEFGBI	0.888410	0.82150	D	0.591472173110278	0.72644	5.837971	0.622593676124259	0.76585	6.518066	0.999999999990058	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	10.003000	0.99689	11.833000	0.97585	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.775	0.85409	776	0.48302	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.012195	0.000000	0.05	1646.43	34	chr9	128792561	.	G	A	1646.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.109;DP=444;ExcessHet=0;FS=2.2;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.132;SOR=0.894	GT:AD:DP:GQ:PL	0/1:61,70:131:99:1658,0,1439	9	0	1	0
chr9	129012238	129012238	C	T	exonic	SH3GLB2	.	nonsynonymous SNV	SH3GLB2:NM_001287046:exon6:c.G622A:p.A208T,SH3GLB2:NM_020145:exon6:c.G622A:p.A208T,SH3GLB2:NM_001287045:exon7:c.G634A:p.A212T,SH3GLB2:NM_001369913:exon7:c.G667A:p.A223T,SH3GLB2:NM_001369914:exon7:c.G634A:p.A212T	.	.	.	.	.	.	.	.	0.0789	0.45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0465020681768	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453504798	1.756e-05	2.189e-05	1.509e-05	2.028e-05	2.118e-05	1.147e-05	9.32e-06	1.383e-05	1.124e-05	0	0	0	0	0	0	2.118e-05	0	0	6.583e-06	6.57e-06	1.287e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.086	0.39575	T	0.152	0.32249	T	0.911	0.63424	P	0.425	0.55126	B	0.000000	0.84330	D	0.046708	1	0.81001	D	2.285	0.65182	M	2.2	0.18570	T	-0.56	0.18670	N	0.645	0.66529	-1.0225	0.22899	T	0.103	0.37894	T	10	0.52795655	0.63018	D	0.046502	0.62489	D	0.191	0.46948	0.302	0.27003	0.434384183301	0.43057	0.3415088200859241	0.34063	0.918288061537	0.71338	0.833063840866	0.87031	D	0.051908	0.29011	T	-0.0711754	0.41140	T	-0.340015	0.40343	T	0.727578341960907	0.42085	D	0.937306	0.76420	D	0.104804724	0.24778	0.15982275	0.37254	0.104804724	0.24778	0.15982275	0.37253	-3.406	0.15670	T	.	.	0.214	0.58269	B	.;.;.;.	.;.;.;.	4.085643	0.60807	24.3	0.99885891433823804	0.96126	0.99439	0.96043	D	AEFDGBI	0.855564	0.77269	D	0.370299403183482	0.59818	4.164598	0.396229481475707	0.61332	4.331837	0.999999999917713	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.81	4.9	0.63643	6.132000	0.71419	2.141000	0.30844	-0.223000	0.07921	1.000000	0.71638	0.986000	0.30841	0.995000	0.73285	0.1404:0.8596:0.0:0.0	15.375	0.74312	917	0.20147	BAR domain|BAR domain|BAR domain;BAR domain|BAR domain|BAR domain;.;BAR domain|BAR domain|BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	848.43	35	chr9	129012238	.	C	T	848.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.82;DP=434;ExcessHet=0;FS=0.926;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-1.33;SOR=0.526	GT:AD:DP:GQ:PL	0/1:36,37:73:99:860,0,846	9	0	1	0
chr9	135486914	135486914	G	A	exonic	PPP1R26	.	nonsynonymous SNV	PPP1R26:NM_014811:exon4:c.G2404A:p.A802T	.	410	1110	2	0	0	2	0.00090009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00143992912446	0.0002	0.000199681	8.713e-05	0.0002	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs199797793	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0002	0.0001	6.708e-05	0.0003	0	0	0.0002	0.0003	9.939e-05	8.115e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	7.214e-05	0	0.0003	0	0	0	0.0068	0.0002	0.0005	0	0.627	0.05198	T	0.562	0.09052	T	0.988	0.62325	D	0.279	0.40265	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.89	0.10196	T	-0.23	0.10656	N	0.021	0.00372	-0.9799	0.35025	T	0.010	0.03673	T	9	0.039170116	0.02388	T	0.00144	0.02164	T	0.100	0.28662	.	.	0.110392049598	0.10638	0.08722801828231519	0.08655	0.601578476994	0.55202	0.320187449455	0.13449	T	0.001584	0.01021	T	-0.613357	0.00121	T	-0.849521	0.00965	T	0.0206588157064693	0.00766	T	0.290771	0.05306	T	0.029842451	0.02545	0.043997847	0.05603	0.029842451	0.02545	0.043997847	0.05602	-4.516	0.31097	T	.	.	0.080	0.09288	B	.;.;.;.;.	.;.;.;.;.	0.153731	0.05455	1.924	0.96123520734843249	0.28781	0.01024	0.03847	N	AEFDBI	0.034233	0.04204	N	-1.23564309440329	0.04492	0.2028688	-1.41110918923427	0.03140	0.1458995	0.999945910462671	0.47345	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	1.03	-0.559	0.11202	-1.587000	0.02211	-0.165000	0.11284	-1.437000	0.01108	0.000000	0.06391	0.002000	0.18203	0.001000	0.02609	0.3082:0.0:0.6918:0.0	4.082	0.09405	510	0.75209	Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, 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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2427.43	34	chr9	135486914	.	G	A	2427.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.33;DP=638;ExcessHet=0;FS=1.089;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.615;SOR=0.779	GT:AD:DP:GQ:PL	0/1:101,99:200:99:2439,0,2242	9	0	1	0
chr9	136672057	136672057	G	C	exonic	EGFL7	.	nonsynonymous SNV	EGFL7:NM_201446:exon8:c.G768C:p.Q256H,EGFL7:NM_016215:exon10:c.G768C:p.Q256H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	0.569121305798	0.0002	0.000199681	0.0003	0	0	0	0	0.0007	0	0	8.41e-05	13	154602	rs201378205	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0006	0.0008	0.0008	6.318e-05	0.0005	0	0	0	0.0007	0.0008	0.0006	0.0003	0.0005	0.0005	0.0005	0.0006	0.0029	0.0004	0.0004	0.0022	0.0020	9.618e-05	0	0.0029	0	0	0	0	0.0005	0	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999959	0.52396	D	2.545	0.74286	M	-2.63	0.90083	D	-3.71	0.70674	D	0.805	0.81162	0.642	0.92438	D	0.798	0.93146	D	10	0.63508695	0.68735	D	0.569121	0.96097	D	0.725	0.90324	0.221	0.14371	0.981343182552	0.98114	0.8137633805223535	0.81332	0.516632788444	0.49541	0.76279515028	0.76347	T	0.628084	0.88437	D	-0.00447707	0.51034	T	0.11217	0.77716	D	0.159316837787628	0.17821	T	0.905909	0.66829	D	0.63945407	0.74802	0.58889145	0.76151	0.63945407	0.74803	0.58889145	0.76152	-9.264	0.69381	D	.	.	0.866	0.80671	P	.;.;.;.	.;.;.;.	3.981192	0.58523	24.0	0.99682343565892306	0.79373	0.99998	0.99999	D	AEFDGBHCI	0.749220	0.69072	D	0.45136281822088	0.64279	4.679032	0.360150212465656	0.59122	4.087428	0.99999999718253	0.74766	0.712529	0.81865	0	0.600433	0.49495	0	0.635938	0.45252	0	0.756233	0.99697	0	.	.	4.45	2.53	0.29594	2.489000	0.44944	5.400000	0.48508	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1725:0.0:0.8275:0.0	10.193	0.42213	952	0.10565	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1037.43	33	chr9	136672057	.	G	C	1037.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.82;DP=383;ExcessHet=0;FS=1.814;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.612;SOR=0.777	GT:AD:DP:GQ:PL	0/1:42,39:81:99:1049,0,1066	9	0	1	0
chr9	136855010	136855010	G	C	exonic	MAMDC4	.	nonsynonymous SNV	MAMDC4:NM_206920:exon10:c.G1097C:p.G366A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00839692218544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.33254	T	0.317	0.19480	T	0.0	0.02946	B	0.001	0.04355	B	0.168465	0.03092	N	1.766790	1	0.08975	N	1.73	0.44655	L	4.49	0.02049	T	-0.8	0.26200	N	0.173	0.18512	-0.9292	0.44256	T	0.006	0.01907	T	10	0.09069127	0.15821	T	0.008397	0.22231	T	0.063	0.18251	0.346	0.34112	0.159798565429	0.15598	0.2268546161320012	0.22600	0.0238469498928	0.02421	0.50073826313	0.38931	T	0.004319	0.03729	T	-0.230877	0.16532	T	-0.569416	0.15504	T	0.149861774640813	0.17092	T	0.351965	0.07883	T	0.04884103	0.08576	0.058955293	0.10984	0.04884103	0.08575	0.058955293	0.10984	-6.371	0.49283	T	.	.	0.083	0.08997	B	.;.	.;.	0.269793	0.06474	2.951	0.27351294700278067	0.01354	0.10799	0.16200	N	AEFGBCI	0.095398	0.19274	N	-1.18906055216592	0.05165	0.2347983	-1.26026185948216	0.04981	0.236276	0.998669337287796	0.37413	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.562822	0.20929	0	.	.	4.65	-3.16	0.04897	-0.477000	0.06663	0.829000	0.21929	0.590000	0.31872	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.3564:0.2989:0.1936:0.1511	0.930	0.01250	964	0.07719	.;MAM domain|MAM domain|MAM domain|MAM 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	.	.	.	.	.	.	.	.	0.05	570.43	37	chr9	136855010	.	G	C	570.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.736;DP=276;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=1.46;SOR=0.573	GT:AD:DP:GQ:PL	0/1:16,21:37:99:582,0,473	9	0	1	0
chr9	137107359	137107359	T	C	exonic	MAN1B1	.	nonsynonymous SNV	MAN1B1:NM_016219:exon11:c.T1676C:p.M559T	Mental retardation, autosomal recessive 15, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1900055	Rafiq_syndrome	MONDO:MONDO:0013624,MedGen:C3280127,OMIM:614202,Orphanet:88616	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.718	0.371399420341	.	.	8.309e-06	0	0	0	0	1.517e-05	0	0	6.5e-06	1	154602	rs748308268	2.053e-06	2.052e-06	2.724e-06	1.376e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	0.343	0.21678	T	0.928	0.51611	P	0.968	0.71741	D	.	.	.	.	1	0.81001	D	0.945	0.23706	L	-0.55	0.71068	T	-2.74	0.58248	D	0.912	0.91391	-0.5795	0.65637	T	0.299	0.67036	T	8	0.9328561	0.92621	D	0.371399	0.92755	D	0.718	0.90011	0.781	0.90541	0.813912271764	0.81216	0.78428641239847	0.78379	0.45569561793	0.45240	0.760856568813	0.76057	T	0.444342	0.78778	T	0.264428	0.79938	D	0.142056	0.79678	D	0.722466647624969	0.41824	D	0.937606	0.76517	D	0.52696174	0.68657	0.5374729	0.73271	0.52696174	0.68658	0.5374729	0.73271	-9.466	0.70647	D	0.1970848218258877	0.26054	0.666	0.79959	P	.;.	.;.	4.584364	0.72457	25.8	0.9260622560900037	0.22070	0.96671	0.70321	D	AEFDGBHCI	0.940868	0.94340	D	0.40262581928981	0.61566	4.359528	0.427589881712492	0.63288	4.55982	0.999999966729209	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.25	4.25	0.49658	7.306000	0.78218	7.598000	0.61467	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	11.214	0.48043	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	.	.	.	.	.	.	.	.	0.05	1181.43	34	chr9	137107359	.	T	C	1181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.866;DP=444;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=2.09;SOR=0.6	GT:AD:DP:GQ:PL	0/1:68,52:120:99:1193,0,1803	9	0	1	0
chr9	137216285	137216285	A	G	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144026:exon14:c.A1690G:p.M564V,NDOR1:NM_001144028:exon14:c.A1642G:p.M548V,NDOR1:NM_014434:exon14:c.A1663G:p.M555V	.	417	1093	12	0	0	12	0.00545951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	.	0.0080	0.00698882	0.0031	0.0241	0.0017	0	0	0.0009	0.0011	0.0028	0.0030013	464	154602	rs75647712	0.0014	0.0014	0.0015	0.0014	0.0276	0.0014	0.0014	0.0262	0.0256	0.0276	0.0019	0.0013	0	0	0.0035	0.0005	0.0027	0.0031	0.0082	0.0082	0.0086	0.0078	0.0260	0.0078	0.0077	0.0247	0.0242	0.0260	0.0044	0.0048	0.0020	0	0	0.0068	0.0007	0.0095	0.0037	0.003	0.68238	D	0.005	0.72224	D	0.996	0.68779	D	0.933	0.66815	D	0.000000	0.84330	D	0.086182	0.999832	0.81001	D	.	.	.	-3.49	0.94621	D	-3.13	0.63901	D	0.548	0.68690	0.453	0.89873	D	0.764	0.91953	D	9	0.011333287	0.00248	T	.	.	.	0.506	0.78724	.	.	0.87308272854	0.87184	0.7487532325093471	0.74821	0.629133186474	0.56967	0.480909883976	0.36182	T	0.44837	0.79028	T	-0.253177	0.13712	T	-0.116176	0.62115	T	0.0496555705096417	0.05439	T	0.837416	0.50983	T	0.49214098	0.66630	0.42788908	0.66520	0.49214098	0.66631	0.42788908	0.66520	-10.636	0.79201	D	.	.	0.298	0.58814	B	.;.;.	.;.;.	2.731068	0.35751	19.98	0.97089143432021052	0.32315	0.96122	0.67633	D	AEFGBI	0.255713	0.37478	N	0.0240550685196933	0.42950	2.597686	-0.143379270227046	0.33663	1.928039	0.999947320098647	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.91	1.32	0.20897	0.574000	0.23416	3.917000	0.40446	0.756000	0.94297	0.049000	0.21372	1.000000	0.68203	0.060000	0.15972	0.6442:0.1812:0.0:0.1746	5.332	0.15244	988	0.01987	.;.;Oxidoreductase FAD/NAD(P)-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.005051	0.004076	0.005848	0.000000	0.000000	0.006135	0.007576	0.05	1426.43	42	chr9	137216285	.	A	G	1426.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.416;DP=466;ExcessHet=0;FS=0.735;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.598;SOR=0.588	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1438,0,1312	9	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	.	.	.	.	.	.	.	.	0.35	1822.95	95	chr10	825249	.	T	C	1822.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.251;DP=1130;ExcessHet=7.0302;FS=212.087;InbreedingCoeff=-0.5384;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=1.58;SOR=11.374	GT:AD:DP:GQ:PL	0/1:110,48:158:99:362,0,1876	3	0	7	0
chr10	4995393	4995393	G	A	exonic	AKR1C2	.	nonsynonymous SNV	AKR1C2:NM_001321027:exon6:c.C694T:p.R232C,AKR1C2:NM_205845:exon8:c.C772T:p.R258C,AKR1C2:NM_001354:exon9:c.C772T:p.R258C	Obesity, hyperphagia, and developmental delay (3);46XY sex reversal 8, Autosomal recessive	15	1496	11	0	0	11	0.003663	.	.	.	3210744	AKR1C2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.302	.	.	.	0.0329	0.0020	0.2198	0.1815	0.0541	0.0045	0.0526	0.0076	.	.	.	rs782195517	0.0011	0.0024	0.0013	0.0010	0.0305	0.0011	0.0011	0.0290	0.0285	0.0001	0.0305	0.0009	0.0061	0.0010	0.0002	5.796e-05	0.0006	0.0002	0.0001	0.0005	0.0001	0.0002	0.0015	9.986e-05	8.465e-05	0.0007	0.0005	4.925e-05	0	0.0006	0	0.0015	0.0002	0	1.483e-05	0.0005	0	0.033	0.47745	D	0.005	0.72224	D	0.99	0.67487	D	0.889	0.65394	P	0.000028	0.55875	D	0.000000	0.999987	0.54805	D	3.885	0.96017	H	1.58	0.29085	T	-7.24	0.94326	D	0.514	0.59901	-0.7784	0.56392	T	0.200	0.55569	T	10	0.010300577	0.00230	T	.	.	.	0.302	0.62290	.	.	0.436780212511	0.43300	0.6688045968153712	0.66818	3.04366087562	0.99282	0.628849744797	0.56981	T	0.216026	0.57807	T	0.0372078	0.56679	T	-0.18433	0.56121	T	0.0948500042171205	0.11781	T	0.933207	0.74971	D	0.7929122	0.83456	0.4514657	0.68086	0.6794278	0.76939	0.49598137	0.70853	-8.384	0.63659	D	0.6385013502958297	0.70887	0.248	0.48293	B	.;.	.;.	4.674500	0.74743	26.2	0.99619437250814058	0.75353	0.62385	0.31766	D	AEFI	0.310900	0.41679	N	0.0517040901841735	0.44221	2.700128	-0.178337949298164	0.32335	1.838572	0.995910845455949	0.34405	0.638212	0.43195	0	0.59043	0.45803	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	3.0	-0.0781	0.13049	1.604000	0.36415	0.148000	0.15257	0.342000	0.19800	0.903000	0.31499	0.000000	0.08366	0.857000	0.40602	0.3581:0.0:0.6419:0.0	6.769	0.22767	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	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002880	0.000000	0.000000	0.000000	0.000000	0.000000	0.003448	0.016667	0.05	39.43	47	chr10	4995393	.	G	A	39.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.6;DP=380;ExcessHet=0;FS=10.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=30.05;MQRankSum=-0.632;QD=0.69;ReadPosRankSum=-0.474;SOR=3.101	GT:AD:DP:GQ:PL	0/1:50,7:57:51:51,0,1409	9	0	1	0
chr10	5730957	5730957	A	T	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_017782:exon11:c.A958T:p.T320S,TASOR2:NM_001321783:exon12:c.A958T:p.T320S,TASOR2:NM_001321784:exon12:c.A958T:p.T320S,TASOR2:NM_001321785:exon12:c.A958T:p.T320S	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0041	0.0181709	0.0108	0.0012	0.0032	0.0285	0.0026	0.0049	0.0167	0.0393	0.0101357	1567	154602	rs75514089	0.0077	0.0077	0.0069	0.0085	0.0354	0.0076	0.0075	0.0344	0.0339	0.0010	0.0032	0.0021	0.0269	0.0040	0.0239	0.0055	0.0077	0.0354	0.0061	0.0061	0.0054	0.0069	0.0447	0.0058	0.0057	0.0399	0.0380	0.0009	0	0.0071	0.0017	0.0297	0.0034	0.0408	0.0049	0.0137	0.0447	0.025	0.47320	D	0.233	0.24913	T	0.908	0.50127	P	0.265	0.39681	B	0.053535	0.22801	N	0.412660	0.995455	0.23286	N	2.05	0.56469	M	3.37	0.05847	T	-1.63	0.39119	N	0.042	0.01498	-0.9833	0.34234	T	0.007	0.02244	T	10	0.002374202	0.00035	T	.	.	.	0.048	0.13305	0.17	0.07536	.	.	0.18643416496702264	0.18561	0.112515022476	0.12700	0.331965386868	0.15231	T	0.043159	0.26414	T	-0.582292	0.00187	T	-0.581335	0.14426	T	0.0185138360721952	0.00567	T	0.689931	0.29934	T	0.069741756	0.15305	0.07706346	0.17132	0.069741756	0.15304	0.07706346	0.17132	-3.456	0.15821	T	.	.	0.164	0.36174	B	.;.	.;.	0.972512	0.13494	10.02	0.98068335027966003	0.38007	0.44859	0.27411	N	AEFBI	0.100182	0.20150	N	-0.0319300939089918	0.40413	2.399544	-0.0686356647124625	0.36694	2.138806	0.300915206058487	0.19188	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.68	3.25	0.36363	0.227000	0.17575	3.239000	0.36954	0.756000	0.94297	0.001000	0.13787	0.985000	0.30750	0.965000	0.52897	0.6742:0.1604:0.1654:0.0	4.811	0.12710	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	0.018630	0.005051	0.014946	0.035088	0.050000	0.068966	0.006098	0.018939	0.05	1682.43	38	chr10	5730957	.	A	T	1682.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=475;ExcessHet=0;FS=1.345;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.247;SOR=0.87	GT:AD:DP:GQ:PL	0/1:85,64:149:99:1694,0,2353	9	0	1	0
chr10	5747455	5747455	T	G	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.T3791G:p.V1264G,TASOR2:NM_017782:exon15:c.T4034G:p.V1345G,TASOR2:NM_001321783:exon16:c.T4034G:p.V1345G,TASOR2:NM_001321784:exon16:c.T4034G:p.V1345G	.	437	1066	19	0	0	19	0.0088331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0041	0.0181709	0.0108	0.0012	0.0032	0.0285	0.0026	0.0049	0.0167	0.0394	0.0101486	1569	154602	rs76183460	0.0077	0.0077	0.0069	0.0086	0.0355	0.0076	0.0075	0.0344	0.0340	0.0010	0.0032	0.0021	0.0270	0.0040	0.0238	0.0055	0.0077	0.0355	0.0061	0.0061	0.0054	0.0069	0.0449	0.0058	0.0057	0.0400	0.0382	0.0009	0	0.0072	0.0017	0.0297	0.0034	0.0408	0.0049	0.0142	0.0449	0.0	0.91255	D	0.002	0.79402	D	0.099	0.25639	B	0.025	0.20508	B	0.593460	0.11027	N	0.776677	0.999996	0.08975	N	1.59	0.40313	L	3.27	0.06602	T	-2.18	0.49187	N	0.089	0.06720	-0.9771	0.35660	T	0.007	0.02244	T	10	0.002009362	0.00028	T	.	.	.	0.026	0.05648	.	.	.	.	0.25456966302251127	0.25370	0.100852803616	0.11398	0.278777122498	0.07323	T	0.003533	0.02940	T	-0.566507	0.00232	T	-0.558662	0.16503	T	0.0173739857580772	0.00475	T	0.256074	0.03980	T	0.13050285	0.30450	0.11904356	0.28735	0.13050285	0.30449	0.11904356	0.28734	-3.872	0.21884	T	.	.	0.158	0.35013	B	.;.	.;.	0.958982	0.13353	9.858	0.96301975793306172	0.29351	0.24839	0.22517	N	AEFBCI	0.044183	0.07077	N	-0.875814062018446	0.11420	0.5510038	-0.931147095918016	0.11361	0.5783042	0.992903656263109	0.33012	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.34	1.87	0.24559	0.021000	0.13381	0.249000	0.16404	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.2623:0.0:0.7377	5.724	0.17272	548	0.72362	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.005051	0.014946	0.035088	0.050000	0.068966	0.006098	0.018939	0.05	1234.43	107	chr10	5747455	.	T	G	1234.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=797;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.047;SOR=0.698	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1246,0,1313	9	0	1	0
chr10	5748766	5748766	C	T	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.C5102T:p.T1701I,TASOR2:NM_017782:exon15:c.C5345T:p.T1782I,TASOR2:NM_001321783:exon16:c.C5345T:p.T1782I,TASOR2:NM_001321784:exon16:c.C5345T:p.T1782I	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0043	0.0179712	0.0107	0.0012	0.0032	0.0280	0.0026	0.0049	0.0167	0.0388	0.010181	1574	154602	rs11593253	0.0077	0.0077	0.0068	0.0085	0.0351	0.0075	0.0075	0.0341	0.0336	0.0010	0.0032	0.0021	0.0266	0.0040	0.0239	0.0055	0.0077	0.0351	0.0061	0.0061	0.0054	0.0068	0.0446	0.0057	0.0056	0.0397	0.0378	0.0009	0	0.0071	0.0017	0.0288	0.0034	0.0408	0.0049	0.0137	0.0446	0.018	0.50676	D	0.063	0.45110	T	0.244	0.31025	B	0.047	0.24832	B	0.098691	0.02526	N	1.815620	1	0.08975	N	1.245	0.31408	L	3.62	0.04399	T	-1.22	0.30964	N	0.077	0.05162	-0.9686	0.37489	T	0.004	0.01400	T	10	0.0025873482	0.00039	T	.	.	.	0.031	0.07369	.	.	.	.	0.13360966107473615	0.13284	0.0466299950202	0.05070	0.256282418966	0.04458	T	0.003556	0.02960	T	-0.663613	0.00060	T	-0.69885	0.05888	T	0.00554423586375245	0.00060	T	0.506949	0.16072	T	0.0592729	0.12027	0.057171863	0.10345	0.0592729	0.12027	0.057171863	0.10345	-4.004	0.23864	T	.	.	0.125	0.38281	B	.;.	.;.	1.089395	0.14728	11.28	0.97467160101788519	0.34115	0.15034	0.18711	N	ALL	0.049726	0.08621	N	-0.824205188460949	0.12693	0.6203526	-0.840277522186012	0.13521	0.7018809	0.999999224801115	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.83	2.88	0.32617	0.209000	0.17231	1.134000	0.24350	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.1787:0.6488:0.1725:0.0	8.255	0.30908	543	0.72751	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.014946	0.035088	0.050000	0.068966	0.006098	0.018939	0.05	1315.43	79	chr10	5748766	.	C	T	1315.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.991;DP=525;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.784;SOR=0.75	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1327,0,1513	9	0	1	0
chr10	14837871	14837871	C	A	exonic	CDNF	.	nonsynonymous SNV	CDNF:NM_001029954:exon1:c.G76T:p.G26C	.	396	1125	1	0	0	1	0.000444247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	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	.	.	.	.	.	.	.	.	0.05	1085.43	33	chr10	14837871	.	C	A	1085.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.152;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.259;SOR=0.606	GT:AD:DP:GQ:PL	0/1:31,45:76:99:1097,0,777	9	0	1	0
chr10	18506518	18506518	G	C	exonic	CACNB2	.	nonsynonymous SNV	CACNB2:NM_000724:exon5:c.G476C:p.S159T,CACNB2:NM_001330060:exon5:c.G476C:p.S159T,CACNB2:NM_201570:exon5:c.G497C:p.S166T,CACNB2:NM_201590:exon5:c.G479C:p.S160T,CACNB2:NM_001167945:exon6:c.G557C:p.S186T,CACNB2:NM_201571:exon6:c.G557C:p.S186T,CACNB2:NM_201572:exon6:c.G557C:p.S186T,CACNB2:NM_201593:exon6:c.G641C:p.S214T,CACNB2:NM_201596:exon6:c.G641C:p.S214T,CACNB2:NM_201597:exon6:c.G641C:p.S214T	Brugada syndrome 4	3	1504	14	1	0	16	0.00529101	.	.	.	171120	Early_repolarization_associated_with_ventricular_fibrillation|not_specified|Brugada_syndrome_4|Cardiovascular_phenotype|not_provided|Brugada_syndrome|Long_QT_syndrome	MONDO:MONDO:0013318,MedGen:C3150852,OMIM:613601|MedGen:CN169374|MONDO:MONDO:0012743,MedGen:C2678477,OMIM:611876,Orphanet:130|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.364	0.0586144080112	0.0008	0.00179712	0.0010	0.0004	0.0003	0	0.0006	0.0013	0	0.0014	0.0009508	147	154602	rs149253719	0.0011	0.0011	0.0011	0.0011	0.0043	0.0010	0.0010	0.0030	0.0026	0.0002	0.0007	0.0002	0	0.0005	0.0043	0.0012	0.0010	0.0011	0.0009	0.0009	0.0009	0.0009	0.0025	0.0008	0.0007	0.0014	0.0011	0.0003	0	0.0016	0.0003	0	0.0008	0	0.0011	0	0.0025	0.01	0.56456	D	0.14	0.37310	T	0.001	0.29111	B	0.005	0.23121	B	0.000000	0.84330	D	0.036871	0.999943	0.81001	D	0.69	0.16971	N	-1.67	0.82806	D	-1.02	0.32991	N	0.385	0.71587	-0.1607	0.78653	T	0.389	0.74386	T	10	0.01582411	0.00332	T	0.058614	0.67379	D	0.364	0.68407	.	.	0.844391916565	0.84290	0.28888373454370075	0.28801	0.29405852682	0.31822	0.541484892368	0.44656	T	0.122134	0.44559	T	-0.105444	0.35522	T	0.0403822	0.72953	D	0.0248195910384765	0.01249	T	0.80342	0.48145	T	0.3400598	0.56285	0.35522628	0.61054	0.3202374	0.54660	0.42763343	0.66502	-4.12	0.30876	T	0.18382160391911886	0.23814	0.089	0.12084	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.142977	0.42517	21.6	0.97678366813792883	0.35300	0.93233	0.57673	D	AEFBHCI	0.850907	0.76775	D	0.191224740741525	0.50776	3.264613	0.392406405374736	0.61097	4.305077	0.606758711883347	0.21771	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	7.026000	0.76192	8.623000	0.77819	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.263	0.98454	957	0.09725	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.008152	0.000000	0.000000	0.008621	0.003049	0.000000	0.1	1498.14	85	chr10	18506518	.	G	C	1498.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.734;DP=420;ExcessHet=0.2348;FS=2.151;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.057;SOR=0.898	GT:AD:DP:GQ:PL	0/1:35,19:54:99:443,0,897	8	0	2	0
chr10	24473904	24473904	G	A	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282769:exon2:c.G677A:p.R226H,KIAA1217:NM_001282770:exon2:c.G677A:p.R226H,KIAA1217:NM_001321681:exon2:c.G677A:p.R226H,KIAA1217:NM_001282767:exon6:c.G1523A:p.R508H,KIAA1217:NM_001282768:exon6:c.G1523A:p.R508H,KIAA1217:NM_019590:exon6:c.G1523A:p.R508H,KIAA1217:NM_001098500:exon7:c.G1283A:p.R428H	.	435	1062	23	2	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	.	0.0042	0.00279553	0.0057	0.0011	0.0034	0.0003	0.0032	0.0069	0.0044	0.0098	0.0056532	874	154602	rs41279868	0.0067	0.0067	0.0066	0.0067	0.0102	0.0066	0.0065	0.0097	0.0095	0.0011	0.0023	0.0024	5.038e-05	0.0042	0.0080	0.0072	0.0061	0.0102	0.0039	0.0039	0.0042	0.0037	0.0108	0.0037	0.0036	0.0085	0.0076	0.0007	0.0088	0.0024	0.0023	0.0002	0.0030	0.0068	0.0061	0.0061	0.0108	0.0	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.047397	0.999999	0.81001	D	2.485	0.72352	M	0.67	0.52187	T	-4.21	0.78046	D	0.783	0.81261	-0.4162	0.71513	T	0.263	0.63361	T	10	0.007798493	0.00177	T	.	.	.	0.531	0.80247	.	.	0.731578513301	0.72918	0.4624375204723641	0.46161	0.633570060492	0.57251	0.573865771294	0.49224	T	0.261078	0.89468	T	-0.0933595	0.37521	T	0.100938	0.76970	D	0.0433894866553355	0.04310	T	0.973903	0.93484	D	0.6997425	0.78042	0.53233963	0.72977	0.6997425	0.78044	0.53233963	0.72978	-8.704	0.76230	D	.	.	0.378	0.65221	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.210104	0.87424	29.2	0.99955902370276051	0.99975	0.99064	0.90698	D	AEFBCI	0.930736	0.91849	D	0.866259133105656	0.90014	10.21514	0.827265161731744	0.91621	10.98079	0.999999999319612	0.74766	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.37	5.37	0.76949	9.211000	0.94222	9.905000	0.82381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.0:1.0:0.0	19.094	0.93225	943	0.12886	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.018939	0.1	4153.12	49	chr10	24473904	.	G	A	4153.12	.	AC=2;AF=0.1;AN=20;DP=454;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.46;SOR=1.341	GT:AD:DP:GQ:PL	1/1:0,132:132:99:4176,396,0	9	1	0	0
chr10	31363188	31363188	T	C	exonic	LOC100505502	.	nonsynonymous SNV	LOC100505502:NM_001368169:exon2:c.A637G:p.S213G	.	489	1028	5	0	0	5	0.00242601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	.	0.0033	0	0	0	0.0027	0.0008	0	0.0053	0.0003428	53	154602	rs765561325	0.0012	0.0012	0.0011	0.0013	0.0039	0.0012	0.0012	0.0035	0.0034	0.0002	0.0004	0	0	0.0019	0.0002	0.0012	0.0009	0.0039	0.0008	0.0008	0.0005	0.0011	0.0021	0.0007	0.0007	0.0011	0.0009	9.622e-05	0	0.0003	0	0.0004	0.0027	0	0.0011	0.0009	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	591.43	33	chr10	31363188	.	T	C	591.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=384;ExcessHet=0;FS=7.793;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.96;MQRankSum=-3.248;QD=10.95;ReadPosRankSum=-0.767;SOR=1.567	GT:AD:DP:GQ:PL	0/1:32,22:54:99:603,0,853	9	0	1	0
chr10	31521854	31521854	A	C	exonic	ZEB1	.	nonsynonymous SNV	ZEB1:NM_001323674:exon5:c.A2297C:p.Q766P,ZEB1:NM_001323675:exon5:c.A2255C:p.Q752P,ZEB1:NM_001323678:exon5:c.A2246C:p.Q749P,ZEB1:NM_001174093:exon6:c.A2459C:p.Q820P,ZEB1:NM_001174095:exon6:c.A2318C:p.Q773P,ZEB1:NM_001323644:exon6:c.A1865C:p.Q622P,ZEB1:NM_001128128:exon7:c.A2471C:p.Q824P,ZEB1:NM_001174094:exon7:c.A2468C:p.Q823P,ZEB1:NM_001174096:exon7:c.A2522C:p.Q841P,ZEB1:NM_001323641:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323648:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323656:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323657:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323658:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323659:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323660:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323666:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323676:exon7:c.A2480C:p.Q827P,ZEB1:NM_001323677:exon7:c.A2477C:p.Q826P,ZEB1:NM_030751:exon7:c.A2519C:p.Q840P,ZEB1:NM_001323645:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323647:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323649:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323651:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323661:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323665:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323671:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323673:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323642:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323643:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323652:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323653:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323654:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323655:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323662:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323664:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323672:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323646:exon10:c.A1865C:p.Q622P,ZEB1:NM_001323650:exon10:c.A1865C:p.Q622P,ZEB1:NM_001323663:exon10:c.A1865C:p.Q622P,ZEB1:NM_001323638:exon11:c.A1865C:p.Q622P	Corneal dystrophy, Fuchs endothelial, 6;Corneal dystrophy, posterior polymorphous, 3	1	1514	7	0	0	7	0.00230643	.	.	.	27673	Corneal_dystrophy,_Fuchs_endothelial,_6|not_provided|not_specified	MONDO:MONDO:0013206,MedGen:C2750448,OMIM:613270,Orphanet:98974|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.326	.	0.0042	0.00299521	0.0073	0.0010	0.0027	0	0.0357	0.0080	0.0133	0.0036	0.0067528	1044	154602	rs118020901	0.0072	0.0072	0.0073	0.0071	0.0072	0.0071	0.0070	0.0070	0.0070	0.0009	0.0026	0.0002	0	0.0324	0.0003	0.0072	0.0054	0.0039	0.0065	0.0065	0.0052	0.0079	0.0074	0.0062	0.0060	0.0069	0.0067	0.0010	0.0033	0.0029	0	0.0004	0.0351	0	0.0074	0.0052	0.0021	0.037	0.43393	D	0.149	0.33219	T	0.996	0.68779	D	0.979	0.74454	D	0.000051	0.53742	D	0.000000	1	0.81001	A	1.4	0.35362	L	2.55	0.13916	T	-1.35	0.33598	N	0.87	0.88137	-1.1381	0.01431	T	0.045	0.19397	T	10	0.008486122	0.00192	T	.	.	.	0.326	0.64826	.	.	0.585156580728	0.58189	0.5262441764705186	0.52548	0.492389837339	0.47886	0.62894320488	0.56994	T	0.219356	0.58233	T	-0.153488	0.27767	T	0.0130049	0.71176	D	0.0117752482725393	0.00182	T	0.927407	0.75038	D	0.2841804	0.51447	0.39151987	0.63920	0.2841804	0.51446	0.3682634	0.62119	-6.197	0.47963	T	0.6644075545165191	0.73840	0.232	0.55152	B	.;.;.;.;.	.;.;.;.;.	4.373441	0.67350	25.1	0.99586012029110649	0.73277	0.96131	0.67674	D	AEFGBCI	0.905103	0.85622	D	0.568385057455099	0.71208	5.61612	0.624828674845685	0.76748	6.548462	0.999999999789682	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.68	5.68	0.88021	7.006000	0.76078	11.304000	0.92346	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.232	0.82175	796	0.45353	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.100000	0.000000	0.000000	0.000000	0.05	2217.43	34	chr10	31521854	.	A	C	2217.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.57;DP=503;ExcessHet=0;FS=1.159;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-1.113;SOR=0.591	GT:AD:DP:GQ:PL	0/1:87,95:182:99:2229,0,2221	9	0	1	0
chr10	45826877	45826877	T	C	exonic	AGAP4	.	nonsynonymous SNV	AGAP4:NM_133446:exon7:c.A1030G:p.M344V,AGAP4:NM_001276343:exon8:c.A1099G:p.M367V,AGAP4:NM_001291379:exon10:c.A775G:p.M259V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.00943947346228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.429e-06	4.025e-06	3.426e-06	3.431e-06	6.117e-05	8e-07	5.4e-07	2.027e-05	1.162e-05	0	0	0	0	0	0	0	0	6.117e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.399	0.17115	T	0.0	0.02946	B	0.002	0.06944	B	0.006603	0.01132	N	3.778880	0.999887	0.19853	N	0.77	0.19370	N	-1.05	0.76690	T	-2.0	0.46146	N	0.062	0.04547	-0.9011	0.47878	T	0.239	0.60643	T	8	0.071650684	0.10590	T	0.009439	0.24739	T	0.184	0.45763	.	.	0.0666544352282	0.05500	0.02741566460127774	0.02691	.	.	0.425742506981	0.28626	T	0.020873	0.16353	T	-0.193915	0.21685	T	-0.516322	0.20669	T	0.0973491370677948	0.12063	T	0.311569	0.06236	T	0.14492618	0.33244	0.14004065	0.33393	0.14492618	0.33244	0.14004065	0.33393	-5.016	0.37013	T	.	.	0.073	0.08802	B	.;.;.;.	.;.;.;.	0.596677	0.09652	6.423	0.26646773665428941	0.01286	0.06537	0.12550	N	AEFI	0.049838	0.08651	N	-0.968987982192874	0.09271	0.4381026	-0.991973621973942	0.09964	0.4989322	1.09754072625086E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	.	.	.	0.088000	0.14821	-1.155000	0.06169	0.182000	0.17807	0.003000	0.16062	0.000000	0.08366	0.029000	0.12982	.	.	.	751	0.51694	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology 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	.	.	.	.	.	.	.	.	0.05	104.43	9	chr10	45826877	.	T	C	104.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=374;ExcessHet=0;FS=2.808;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=24.24;MQRankSum=0.18;QD=10.44;ReadPosRankSum=-0.1;SOR=1.919	GT:AD:DP:GQ:PL	0/1:5,5:10:99:116,0,104	9	0	1	0
chr10	46550328	46550328	G	A	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.C409T:p.R137W,GPRIN2:NM_001385276:exon3:c.C409T:p.R137W,GPRIN2:NM_001385282:exon3:c.C409T:p.R137W,GPRIN2:NM_014696:exon3:c.C409T:p.R137W,GPRIN2:NM_001385277:exon4:c.C409T:p.R137W,GPRIN2:NM_001385278:exon4:c.C409T:p.R137W,GPRIN2:NM_001385279:exon4:c.C409T:p.R137W,GPRIN2:NM_001385280:exon4:c.C409T:p.R137W,GPRIN2:NM_001385281:exon4:c.C409T:p.R137W,GPRIN2:NM_001385283:exon4:c.C409T:p.R137W,GPRIN2:NM_001385287:exon4:c.C481T:p.R161W,GPRIN2:NM_001385289:exon4:c.C481T:p.R161W,GPRIN2:NM_001385300:exon4:c.C481T:p.R161W,GPRIN2:NM_001385291:exon5:c.C481T:p.R161W,GPRIN2:NM_001385293:exon5:c.C481T:p.R161W,GPRIN2:NM_001385294:exon5:c.C481T:p.R161W,GPRIN2:NM_001385295:exon5:c.C481T:p.R161W,GPRIN2:NM_001385296:exon5:c.C481T:p.R161W,GPRIN2:NM_001385301:exon5:c.C481T:p.R161W,GPRIN2:NM_001385297:exon6:c.C481T:p.R161W,GPRIN2:NM_001385298:exon6:c.C481T:p.R161W,GPRIN2:NM_001385299:exon6:c.C481T:p.R161W	.	394	1109	19	0	0	19	0.00849352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs140859626	0.0019	0.0025	0.0018	0.0020	0.0086	0.0018	0.0018	0.0066	0.0060	0.0003	0.0014	0.0100	0	3.814e-05	0.0086	0.0017	0.0028	0.0033	0.0014	0.0020	0.0016	0.0013	0.0025	0.0013	0.0012	0.0016	0.0015	0.0003	0.0034	0.0013	0.0104	0	0	0.0103	0.0019	0.0028	0.0025	0.073	0.34800	T	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8	0.03781	T	-2.59	0.55821	D	0.166	0.17553	.	.	.	.	.	.	.	0.016067445	0.00338	T	.	.	.	.	.	.	.	.	.	0.18825813848168782	0.18743	.	.	.	.	.	0.028429	0.20594	T	.	.	.	.	.	.	.	.	.	0.683432	0.29175	T	.	.	.	.	.	.	.	.	-4.077	0.24950	T	.	.	0.093	0.14015	B	.;.	.;.	2.289579	0.29282	18.07	.	.	.	.	.	.	0.085239	0.17279	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.130000	0.10477	3.199000	0.36741	0.676000	0.76740	0.000000	0.06391	0.883000	0.27730	0.895000	0.43227	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	643.43	126	chr10	46550328	.	G	A	643.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.625;DP=1244;ExcessHet=0;FS=0.754;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.36;ReadPosRankSum=2.19;SOR=0.811	GT:AD:DP:GQ:PL	0/1:86,34:120:99:655,0,2200	9	0	1	0
chr10	47502957	47502957	G	A	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.C1172T:p.P391L	.	440	1073	8	1	0	10	0.00463822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.747455093348	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181170818	0.0006	0.0006	0.0006	0.0006	0.0035	0.0006	0.0006	0.0023	0.0019	0.0002	9.179e-05	3.858e-05	2.553e-05	3.767e-05	0.0035	0.0007	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0003	0	0.0003	0	0	0.0003	0	0.0007	0	0.0002	0.205	0.20002	T	0.107	0.37730	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.68	0.12371	T	-5.11	0.83092	D	0.221	0.24758	.	.	.	.	.	.	.	0.17645505	0.32630	T	.	.	.	.	.	.	.	.	.	0.03470515512891299	0.03417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.754325	0.37688	T	.	.	.	.	.	.	.	.	-3.704	0.19377	T	.	.	0.076	0.05890	B	.	.	2.631763	0.34221	19.57	.	.	.	.	.	.	0.173174	0.30025	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.293000	0.43219	-0.011000	0.13060	0.164000	0.17730	0.995000	0.38783	0.012000	0.20211	0.029000	0.12982	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	4770.45	34	chr10	47502957	.	G	A	4770.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.72;DP=792;ExcessHet=0.7463;FS=1.303;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=46.62;MQRankSum=-3.829;QD=13.99;ReadPosRankSum=0.261;SOR=0.779	GT:AD:DP:GQ:PL	0/1:72,60:132:99:1641,0,1800	7	0	3	0
chr10	50009224	50009224	A	G	exonic	AGAP6	.	nonsynonymous SNV	AGAP6:NM_001077665:exon8:c.A1099G:p.M367V,AGAP6:NM_001365867:exon9:c.A496G:p.M166V	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0223904563001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.121e-05	2.326e-05	2.314e-05	1.925e-05	2.519e-05	1.52e-05	1.324e-05	2.62e-06	1.68e-06	0	0	0	2.519e-05	0.0004	0	6.295e-06	3.312e-05	1.159e-05	5.911e-05	5.909e-05	3.852e-05	8.067e-05	0.0002	3.076e-05	2.209e-05	.	.	2.411e-05	0	0	0	0.0002	0.0007	0	0	0	0	.	.	.	0.394	0.17910	T	.	.	.	.	.	.	0.006603	0.01132	N	3.778880	0.999826	0.20203	N	0.965	0.23975	L	-1.05	0.76690	T	.	.	.	0.091	0.08227	-1.0842	0.06553	T	0.048	0.20632	T	8	0.04379469	0.03266	T	0.02239	0.45274	T	0.150	0.39571	.	.	0.0297737177859	0.01360	.	.	.	.	0.43659979105	0.30112	T	0.008067	0.07427	T	-0.400296	0.02305	T	-0.576105	0.14894	T	0.0162337195253797	0.00396	T	0.367963	0.09138	T	0.081580974	0.18751	0.15397315	0.36157	0.081580974	0.18751	0.15397315	0.36156	-5.173	0.38666	T	.	.	0.081	0.09191	B	.;.;.	.;.;.	0.286865	0.06634	3.131	0.2106358670371257	0.00786	0.06436	0.12442	N	AEFI	0.057375	0.10682	N	-1.5253233107696	0.01684	0.07370686	-1.57359766427702	0.01818	0.08282113	3.43645982690171E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	0.046	-0.093	0.12988	0.518000	0.22554	-0.992000	0.06676	-1.413000	0.01131	0.444000	0.26519	0.000000	0.08366	0.013000	0.09966	.	.	.	715	0.56137	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology 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	.	.	.	.	.	.	.	.	0.05	223.43	99	chr10	50009224	.	A	G	223.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.106;DP=685;ExcessHet=0;FS=1.302;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.8;MQRankSum=-4.689;QD=0.78;ReadPosRankSum=1.16;SOR=0.587	GT:AD:DP:GQ:PL	0/1:245,42:287:99:235,0,6915	9	0	1	0
chr10	50132857	50132857	G	A	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001330102:exon29:c.G3752A:p.R1251Q,WASHC2A:NM_001291398:exon30:c.G3875A:p.R1292Q,WASHC2A:NM_001005751:exon31:c.G3938A:p.R1313Q	.	551	940	31	0	0	31	0.0162219	.	.	.	2813160	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00279264873764	0.0038	0.000599042	0.0043	0.0010	0.0042	0	0.0036	0.0060	0.0026	0.0028	0.0029819	461	154602	rs200743948	0.0033	0.0034	0.0032	0.0033	0.0121	0.0032	0.0032	0.0094	0.0085	0.0006	0.0021	0.0011	0	0.0031	0.0121	0.0036	0.0037	0.0020	0.0029	0.0031	0.0029	0.0028	0.0040	0.0026	0.0025	0.0034	0.0032	0.0006	0	0.0040	0.0003	0	0.0058	0.0102	0.0038	0.0071	0.0025	0.844	0.03674	T	0.724	0.07037	T	0.055	0.23455	B	0.005	0.11217	B	0.284917	0.14876	N	0.637003	1	0.08975	N	.	.	.	.	.	.	-0.28	0.11547	N	0.065	0.06720	-1.0101	0.26886	T	0.040	0.17106	T	9	0.0024327934	0.00036	T	0.003769	0.08775	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.050815902118571746	0.05023	.	.	0.212326720357	0.00914	T	0.009172	0.08364	T	-0.612009	0.00123	T	-0.650243	0.08937	T	0.00062144657100325	0.00006	T	0.835616	0.50934	T	0.033233922	0.03503	0.035245817	0.02741	0.033233922	0.03502	0.035245817	0.02740	-2.199	0.04060	T	.	.	0.094	0.14614	B	.;.;.;.;.	.;.;.;.;.	1.311533	0.17144	12.99	0.25709633295541157	0.01198	0.02374	0.06752	N	AEFI	0.039162	0.05648	N	-1.16942063521423	0.05468	0.2493362	-1.18235086116027	0.06204	0.297914	1.47346817215427E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.72	-1.64	0.07874	0.404000	0.20722	-0.020000	0.12938	0.484000	0.22197	0.000000	0.06391	0.000000	0.08366	0.976000	0.56436	0.7745:0.0:0.2255:0.0	8.312	0.31238	888	0.27761	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.009818	0.017544	0.005988	0.013699	0.000000	0.010204	0.026316	0.000000	0.05	2093.43	73	chr10	50132857	.	G	A	2093.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.13;DP=716;ExcessHet=0;FS=0.479;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.33;MQRankSum=1.65;QD=8.58;ReadPosRankSum=0.229;SOR=0.737	GT:AD:DP:GQ:PL	0/1:152,92:244:99:2105,0,3786	9	0	1	0
chr10	70435896	70435896	C	T	exonic	NODAL	.	nonsynonymous SNV	NODAL:NM_018055:exon2:c.G281A:p.R94Q	Heterotaxy, visceral, 5, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	322578	Holoprosencephaly_sequence|not_provided|NODAL-related_disorder|Heterotaxy,_visceral,_5,_autosomal	Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162|MedGen:C3661900|MedGen:CN239298|MONDO:MONDO:0700112,MedGen:C3495537,OMIM:270100,Orphanet:450	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.552	0.0427670936147	7.7e-05	.	0.0002	9.831e-05	0	0	0	0.0002	0.0022	0.0007	0.0001746	27	154602	rs146018217	0.0001	0.0001	8.576e-05	0.0002	0.0012	0.0001	0.0001	0.0008	0.0008	8.961e-05	4.472e-05	7.652e-05	0	0	0.0012	6.385e-05	0.0003	0.0010	8.536e-05	8.531e-05	7.708e-05	9.402e-05	0.0006	4.954e-05	3.96e-05	0.0002	9e-05	9.623e-05	0	6.535e-05	0	0	0	0	7.351e-05	0	0.0006	0.032	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.766	0.56676	P	0.000000	0.84330	D	0.000000	0.991713	0.41456	D	2.295	0.65404	M	-0.75	0.73311	T	-3.12	0.63782	D	0.714	0.71676	0.019	0.82627	D	0.486	0.80421	T	10	0.3004281	0.47590	T	0.042767	0.60635	D	0.552	0.81485	.	.	0.814056549599	0.81230	0.6621781402840408	0.66154	1.1300589259	0.78586	0.451749324799	0.32182	T	0.859461	0.96869	D	-0.0584999	0.43141	T	0.0614091	0.74338	D	0.480959892272949	0.31932	T	0.756024	0.37907	T	0.31654987	0.54347	0.23613045	0.48875	0.31654987	0.54347	0.23613045	0.48874	-4.346	0.28816	T	0.4259781357468628	0.51394	0.147	0.32396	B	.;.	.;.	4.982890	0.82549	27.8	0.99958989719086966	0.99990	0.83571	0.42679	D	AEFDBI	0.374939	0.45966	N	0.721578434132989	0.81047	7.431669	0.710230283775999	0.83157	7.948176	0.999999989859341	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	5.194000	0.64964	5.925000	0.51226	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.9187:0.0:0.0813	11.624	0.50394	476	0.77720	.;.	.	.	.	.	.	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	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1625.43	34	chr10	70435896	.	C	T	1625.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=508;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.796;SOR=0.706	GT:AD:DP:GQ:PL	0/1:72,64:136:99:1637,0,1698	9	0	1	0
chr10	92653698	92653698	A	G	exonic	KIF11	.	nonsynonymous SNV	KIF11:NM_004523:exon22:c.A3073G:p.R1025G	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1423260	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.0401397508432	.	0.000199681	8.239e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs202027907	5.477e-06	5.472e-06	2.725e-06	8.256e-06	0.0002	2.36e-06	1.7e-06	8.201e-05	5.786e-05	0	0	0	0.0002	0	0	8.998e-07	0	0	6.563e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.004	0.65419	D	0.168	0.30631	T	0.324	0.33106	B	0.185	0.36047	B	0.004880	0.33312	N	0.331135	0.774195	0.29404	N	2.52	0.73523	M	-0.16	0.65378	T	-1.22	0.30964	N	0.715	0.71765	-0.7243	0.59249	T	0.208	0.56676	T	10	0.3986612	0.55410	T	0.04014	0.59207	D	0.126	0.34673	.	.	0.635134566476	0.63214	0.3281732257323457	0.32730	0.640815093969	0.57705	0.421881914139	0.28096	T	0.154952	0.49646	T	-0.108411	0.35030	T	-0.224373	0.52315	T	0.632126450538635	0.37706	D	0.821218	0.48050	T	0.16946702	0.37464	0.1458485	0.34575	0.16946702	0.37464	0.1458485	0.34574	-3.176	0.12190	T	.	.	0.146	0.32251	B	.	.	3.165734	0.42909	21.6	0.9947233016082071	0.66419	0.84145	0.43229	D	AEFBI	0.300698	0.40942	N	-0.0690786495804465	0.38755	2.274708	-0.00269148644967909	0.39594	2.349997	0.108762470296269	0.16591	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.73	1.89	0.24700	2.322000	0.43474	5.252000	0.48096	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.5592:0.4408:0.0:0.0	11.195	0.47939	517	0.74620	Kinesin-associated microtubule-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	915.43	34	chr10	92653698	.	A	G	915.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.509;DP=381;ExcessHet=0;FS=1.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.36;SOR=0.495	GT:AD:DP:GQ:PL	0/1:34,42:76:99:927,0,863	9	0	1	0
chr10	93579178	93579178	A	G	exonic	FFAR4	.	nonsynonymous SNV	FFAR4:NM_181745:exon3:c.A716G:p.D239G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0137919787355	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021673956	9.577e-06	9.577e-06	1.089e-05	8.251e-06	0.0005	5.56e-06	4.35e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	9.893e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509	0.07521	T	0.253	0.23501	T	0.0	0.02946	B	0.0	0.01387	B	0.015602	0.01421	N	2.957200	1	0.08975	N	-0.69	0.01958	N	-0.6	0.71662	T	0.21	0.04776	N	0.174	0.18649	-1.0483	0.14875	T	0.150	0.47804	T	10	0.051296085	0.04988	T	0.013792	0.33457	T	0.061	0.17616	0.408	0.44230	0.195762928549	0.19159	0.5709901508735257	0.57027	0.689680565843	0.60497	0.306136578321	0.11324	T	0.018028	0.14606	T	-0.210242	0.19345	T	-0.539775	0.18318	T	0.055655882618731	0.06466	T	0.355164	0.08047	T	0.0209105	0.00668	0.033022486	0.02131	0.0209105	0.00668	0.033022486	0.02130	.	.	.	.	.	0.109	0.20663	B	.	.	-0.341394	0.02441	0.278	0.56357177541158499	0.05535	0.01269	0.04444	N	AEFDGBHCI	0.036514	0.04877	N	-1.46947084342636	0.02068	0.09094408	-1.55181083327868	0.01964	0.08965596	0.999999970804544	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.39	-3.95	0.03844	-0.963000	0.03947	-1.139000	0.06214	-0.677000	0.04263	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2579:0.3444:0.2286:0.169	0.876	0.01147	237	0.90758	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	.	.	.	.	.	.	.	.	0.05	1047.43	34	chr10	93579178	.	A	G	1047.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.482;DP=440;ExcessHet=0;FS=4.336;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=-0.334;SOR=0.738	GT:AD:DP:GQ:PL	0/1:81,48:129:99:1059,0,2051	9	0	1	0
chr10	94357327	94357327	G	C	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon4:c.C355G:p.P119A	.	435	1074	12	1	0	14	0.00647549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0293336462056	0.0018	0.000798722	0.0015	0.0006	0.0007	0	0.0006	0.0023	0	0.0009	0.0015459	239	154602	rs45484894	0.0021	0.0021	0.0022	0.0021	0.0025	0.0021	0.0021	0.0024	0.0024	0.0004	0.0013	0.0009	0	0.0004	0.0016	0.0025	0.0022	0.0008	0.0018	0.0018	0.0018	0.0018	0.0035	0.0016	0.0016	0.0027	0.0025	0.0004	0.0241	0.0035	0.0014	0	0.0002	0	0.0026	0.0028	0	0.172	0.22660	T	0.05	0.48080	T	0.997	0.70673	D	0.931	0.66596	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	2.76	0.11515	T	-2.13	0.48354	N	0.464	0.50056	-1.0564	0.12672	T	0.044	0.19111	T	10	0.007900178	0.00179	T	0.029334	0.51865	D	0.186	0.46104	.	.	0.570615151236	0.56727	0.1157346242337762	0.11501	0.381205266977	0.39485	0.527722239494	0.42714	T	0.008842	0.08085	T	-0.408779	0.02025	T	-0.363637	0.37630	T	0.0362242572009563	0.03020	T	0.914509	0.69499	D	0.12627068	0.29579	0.13693327	0.32746	0.12627068	0.29578	0.13693327	0.32745	-4.003	0.23849	T	.	.	0.099	0.16494	B	.	.	3.663444	0.52058	23.2	0.98909315754772842	0.48345	0.99663	0.98459	D	AEFDGBI	0.823444	0.74356	D	0.344724101682489	0.58461	4.018535	0.333513068192767	0.57519	3.918014	0.999999999996242	0.74766	0.732398	0.92422	0	0.688494	0.66719	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.16	5.16	0.70563	7.514000	0.80644	8.584000	0.77658	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	19.023	0.92900	411	0.82069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.000000	0.001359	0.008824	0.000000	0.000000	0.000000	0.000000	0.05	749.43	40	chr10	94357327	.	G	C	749.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.369;DP=333;ExcessHet=0;FS=7.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.29;ReadPosRankSum=-0.307;SOR=0.164	GT:AD:DP:GQ:PL	0/1:17,29:46:99:761,0,493	9	0	1	0
chr10	95394667	95394667	T	C	exonic	SORBS1	.	nonsynonymous SNV	SORBS1:NM_001034954:exon13:c.A1304G:p.N435S,SORBS1:NM_001290298:exon13:c.A908G:p.N303S,SORBS1:NM_001384465:exon13:c.A908G:p.N303S,SORBS1:NM_001384459:exon14:c.A935G:p.N312S	.	414	1096	12	0	0	12	0.00544465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00659679840932	0.0033	0.00139776	0.0030	0.0007	0.0026	0	0.0012	0.0043	0.0033	0.0019	0.0029236	452	154602	rs147078270	0.0035	0.0036	0.0035	0.0035	0.0113	0.0034	0.0034	0.0091	0.0083	0.0003	0.0018	0.0117	0	0.0008	0.0113	0.0038	0.0032	0.0021	0.0026	0.0026	0.0028	0.0025	0.0040	0.0024	0.0023	0.0036	0.0034	0.0008	0	0.0022	0.0101	0	0.0004	0.0034	0.0040	0.0043	0.0023	0.173	0.22573	T	0.701	0.05707	T	0.002	0.09854	B	0.004	0.10090	B	0.000382	0.44960	D	0.000000	1	0.81001	D	1.39	0.34934	L	3.16	0.07711	T	-1.21	0.30762	N	0.125	0.21580	-0.9336	0.43605	T	0.011	0.03996	T	10	0.0046735406	0.00098	T	0.006597	0.17415	T	0.104	0.29647	.	.	0.374076547971	0.37021	0.19694114752873415	0.19611	0.149610788951	0.16869	0.348650872707	0.17724	T	0.115101	0.43343	T	-0.651914	0.00070	T	-0.706871	0.05458	T	0.0113779871061898	0.00170	T	0.838016	0.51077	T	0.05432028	0.10405	0.107875235	0.25976	0.05432028	0.10404	0.107875235	0.25975	-6.346	0.49086	T	.	.	0.111	0.22428	B	.;.	.;.	1.467754	0.18910	13.99	0.9284714388823081	0.22385	0.74518	0.36455	D	AEFDGBCIJ	0.315370	0.41996	N	-0.655626110128228	0.17297	0.888821	-0.454672349549036	0.23416	1.27689	0.999988455012172	0.51787	0.428477	0.06694	0	0.587068	0.34093	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	6.06	0.67	0.17092	1.404000	0.34232	.	.	0.665000	0.62972	1.000000	0.71638	0.909000	0.28100	1.000000	0.97212	0.0:0.2113:0.1197:0.669	6.401	0.20839	803	0.44167	SoHo domain;SoHo 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	0.009073	0.005051	0.009511	0.014620	0.000000	0.025862	0.003067	0.007576	0.05	1235.43	35	chr10	95394667	.	T	C	1235.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=470;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=-1.044;SOR=0.77	GT:AD:DP:GQ:PL	0/1:90,52:142:99:1247,0,2350	9	0	1	0
chr10	97319541	97319541	C	A	exonic	FRAT1	.	nonsynonymous SNV	FRAT1:NM_005479:exon1:c.C88A:p.Q30K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.819805603404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.048	0.48594	D	0.945	0.53279	P	0.579	0.50152	P	0.000018	0.62929	U	0.000000	0.694501	0.33360	D	2.61	0.76335	M	.	.	.	-2.78	0.58896	D	0.325	0.36569	-0.4599	0.70071	T	0.191	0.54301	T	9	0.7288216	0.74157	D	0.819806	0.98598	D	0.209	0.49871	0.75	0.88071	0.192905019026	0.18896	0.17102459773913214	0.17022	2.57827802418	0.98043	0.8554007411	0.90428	D	0.623109	0.88216	D	0.0553173	0.59023	T	-0.158317	0.58503	T	0.964189529418945	0.66881	D	0.827917	0.49191	T	0.6315065	0.74379	0.58353186	0.75853	0.6315065	0.74380	0.58353186	0.75854	-4.544	0.31460	T	.	.	0.311	0.53861	B	.	.	3.388143	0.46898	22.4	0.99254202524820223	0.56989	0.94544	0.61510	D	AEFDGBHCI	0.556391	0.56644	D	0.337963303014677	0.58108	3.981163	0.276407321845783	0.54163	3.582339	0.999999999990073	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	3.01	3.01	0.33872	5.238000	0.65190	3.989000	0.40972	0.442000	0.21104	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:1.0:0.0:0.0	11.801	0.51400	734	0.53889	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	995.43	35	chr10	97319541	.	C	A	995.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.43;ReadPosRankSum=-0.832;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,26:54:99:0|1:97319540_G_A:1007,0,1097:97319540	9	0	1	0
chr10	99799228	99799228	A	G	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon8:c.A889G:p.K297E	Dubin-Johnson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.129997596501	.	.	8.256e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs778413437	1.368e-05	1.368e-05	1.361e-05	1.375e-05	1.799e-05	8.94e-06	7.26e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	0	0	1.314e-05	1.313e-05	0	2.691e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.6	0.05635	T	0.56	0.09113	T	0.004	0.12183	B	0.004	0.10090	B	0.142678	0.18236	N	0.618692	0.984012	0.40089	D	0	0.06538	N	-2.49	0.89145	D	-0.32	0.12283	N	0.162	0.17002	-0.2710	0.75785	T	0.551	0.83574	D	10	0.117411345	0.22172	T	0.129998	0.81211	D	0.179	0.44899	0.354	0.35408	0.790494687022	0.78854	0.23666682246296988	0.23581	0.0460822907336	0.05005	0.335156857967	0.15711	T	0.040592	0.25579	T	-0.0324767	0.47055	T	-0.284427	0.46348	T	0.0670932461778452	0.08237	T	0.318368	0.06377	T	0.106953725	0.25289	0.10164308	0.24337	0.106953725	0.25289	0.10164308	0.24337	-4.277	0.27853	T	.	.	0.078	0.06990	B	.;.	.;.	2.018348	0.25648	16.84	0.75215336559167556	0.10989	0.74029	0.36210	D	AEBHCI	0.568460	0.57363	D	-0.484017650881209	0.22604	1.208138	-0.397192464555749	0.25081	1.377164	0.99999967776722	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.85	4.73	0.59485	2.044000	0.40863	3.576000	0.39140	0.754000	0.88378	0.995000	0.38783	0.994000	0.32194	0.545000	0.30055	0.9176:0.0:0.0824:0.0	10.182	0.42148	811	0.42639	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	979.43	34	chr10	99799228	.	A	G	979.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.635;DP=407;ExcessHet=0;FS=0.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-1.445;SOR=0.83	GT:AD:DP:GQ:PL	0/1:52,42:94:99:991,0,1332	9	0	1	0
chr10	100329878	100329878	C	A	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon1:c.G63T:p.K21N,PKD2L1:NM_016112:exon1:c.G226T:p.G76C	.	371	1121	29	1	0	31	0.0136384	.	.	.	701136	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.0190395566659	0.0041	0.00319489	0.0048	0.0009	0.0036	0.0001	0.0011	0.0058	0.0046	0.0090	0.0047153	729	154602	rs117403721	0.0054	0.0054	0.0052	0.0055	0.0082	0.0053	0.0052	0.0077	0.0075	0.0009	0.0044	0.0145	0	0.0008	0.0047	0.0055	0.0061	0.0082	0.0036	0.0036	0.0036	0.0036	0.0072	0.0033	0.0033	0.0054	0.0047	0.0007	0	0.0043	0.0153	0	0.0007	0.0034	0.0051	0.0024	0.0072	0.004	0.65419	D	0.026	0.55759	D	0.019	0.17989	B	0.019	0.18783	B	0.385893	0.13323	N	0.731827	1	0.08975	N	2.175	0.60977	M	0.24	0.59583	T	-4.23	0.75935	D	0.216	0.24135	-1.0067	0.27943	T	0.068	0.27811	T	10	0.008423835	0.00191	T	0.01904	0.41292	T	0.108	0.30607	.	.	0.594169782683	0.59095	0.5379647314443091	0.53721	0.0728802315948	0.08163	0.318361461163	0.13173	T	0.244	0.61351	T	-0.374388	0.03378	T	-0.306414	0.44044	T	0.0347109965057643	0.02759	T	0.60444	0.22695	T	0.34537587	0.56705	0.23732647	0.49026	0.34537587	0.56705	0.23732647	0.49025	-6.936	0.53566	T	.	.	0.090	0.12465	B	.	.	0.834622	0.12059	8.616	0.47285426592381663	0.03854	0.10713	0.16140	N	AEFBI	0.091783	0.18588	N	-0.741407035168357	0.14869	0.7443333	-0.88933998396654	0.12346	0.6345305	0.0154833805528523	0.12719	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.95	-0.397	0.11804	0.194000	0.16941	-1.528000	0.05238	-0.176000	0.10722	0.057000	0.21666	0.000000	0.08366	0.022000	0.11911	0.1392:0.5447:0.0:0.316	5.054	0.13859	736	0.53558	.	.	.	.	.	.	Likely benign	0	0	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	0.010101	0.012228	0.005848	0.000000	0.000000	0.009146	0.011364	0.05	748.43	35	chr10	100329878	.	C	A	748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.952;DP=353;ExcessHet=0;FS=2.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=1.59;SOR=0.34	GT:AD:DP:GQ:PL	0/1:22,30:52:99:760,0,580	9	0	1	0
chr10	113849814	113849814	C	T	exonic	DCLRE1A	.	nonsynonymous SNV	DCLRE1A:NM_014881:exon2:c.G1291A:p.D431N,DCLRE1A:NM_001271816:exon3:c.G1291A:p.D431N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00887842971606	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1009125468	5.473e-06	5.472e-06	4.084e-06	6.876e-06	0.0003	2.35e-06	1.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	8.279e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.239	0.24477	T	0.0	0.02946	B	0.001	0.04355	B	0.042187	0.01902	N	1.926380	1	0.08975	N	1.01	0.25309	L	-0.26	0.67187	T	-0.79	0.21860	N	0.106	0.09207	-1.0172	0.24625	T	0.181	0.52813	T	10	0.072292775	0.10773	T	0.008878	0.23415	T	0.082	0.23913	0.179	0.08626	0.539388553722	0.53591	0.13601418008927102	0.13525	0.110930127955	0.12519	0.201636061072	0.00506	T	0.093899	0.39306	T	-0.298556	0.08796	T	-0.666632	0.07826	T	0.0826666536775539	0.10325	T	0.576042	0.20701	T	0.02727979	0.01897	0.02421465	0.00438	0.02727979	0.01897	0.02421465	0.00437	-3.221	0.12739	T	.	.	0.073	0.05231	B	.;.	.;.	0.161434	0.05518	1.981	0.89235558252107627	0.18624	0.09751	0.15436	N	AEFDBI	0.063705	0.12327	N	-1.25490880754145	0.04235	0.1907473	-1.27298463520273	0.04799	0.2272386	0.999941663288518	0.47345	0.651	0.46895	0	0.627608	0.54475	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.93	-0.38	0.11868	-0.086000	0.11198	-0.891000	0.07028	-0.956000	0.02005	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2208:0.3803:0.2144:0.1844	1.462	0.02253	932	0.16191	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2908.43	33	chr10	113849814	.	C	T	2908.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.468;DP=478;ExcessHet=0;FS=4.685;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.31;ReadPosRankSum=-1.251;SOR=0.483	GT:AD:DP:GQ:PL	0/1:64,104:168:99:2920,0,1657	9	0	1	0
chr10	119898750	119898750	C	G	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon2:c.C487G:p.L163V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.120769286184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03e-05	0.0002	1.093e-05	9.654e-06	1.174e-05	6.18e-06	4.9e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	3.32e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.06461	T	0.821	0.12246	T	0.104	0.25941	B	0.062	0.26930	B	0.000005	0.62929	D	0.107180	1	0.81001	D	1.78	0.46185	L	-4.25	0.97054	D	0.01	0.06868	N	0.207	0.22998	0.479	0.90252	D	0.815	0.93762	D	10	0.15099514	0.28548	T	0.120769	0.80138	D	0.336	0.65816	0.186	0.09517	0.849074084723	0.84762	0.11778504863915601	0.11705	0.144110295782	0.16271	0.353825509548	0.18484	T	0.091547	0.38818	T	0.043976	0.57564	T	-0.174608	0.57021	T	0.556831955909729	0.34735	D	0.738826	0.35731	T	0.14919165	0.34025	0.09147891	0.21510	0.14919165	0.34024	0.09147891	0.21510	-3.167	0.12082	T	.	.	0.071	0.05274	B	.;.	.;.	1.155811	0.15440	11.85	0.95415677836796886	0.26887	0.98451	0.82913	D	AEFGBI	0.532298	0.55222	D	-0.292483383673774	0.29436	1.632456	-0.16913862766753	0.32679	1.861587	0.999999898467037	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.65	0.57626	2.670000	0.46499	2.509000	0.33065	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.518000	0.29429	0.0:0.9277:0.0:0.0723	14.037	0.64172	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	42.71	153	chr10	119898750	.	C	G	42.71	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-6.062;DP=1386;ExcessHet=0;FS=256.542;InbreedingCoeff=-0.1958;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.24;ReadPosRankSum=1.65;SOR=8.155	GT:AD:DP:GQ:PL	0/1:135,44:193:51:51,0,2960	5	0	1	4
chr10	122631872	122631872	C	T	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon34:c.C4093T:p.P1365S,DMBT1:NM_017579:exon46:c.C5947T:p.P1983S,DMBT1:NM_001320644:exon47:c.C5977T:p.P1993S,DMBT1:NM_007329:exon47:c.C5977T:p.P1993S,DMBT1:NM_001377530:exon50:c.C6364T:p.P2122S	.	411	1106	5	0	0	5	0.0022553	.	.	.	737389	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.006	0.00133183655001	0.0008	0.000998403	0.0012	0.0002	0.0007	0	0	0.0019	0.0022	0.0004	0.0011061	171	154602	rs189862352	0.0008	0.0008	0.0007	0.0008	0.0177	0.0007	0.0007	0.0149	0.0139	0.0003	0.0012	0.0083	0	9.363e-05	0.0177	0.0005	0.0016	0.0006	0.0006	0.0006	0.0006	0.0007	0.0009	0.0005	0.0005	0.0005	0.0004	0.0002	0	0.0009	0.0081	0	0	0.0068	0.0006	0.0009	0.0008	0.336	0.28520	T	0.253	0.23501	T	0.097	0.25541	B	0.099	0.30579	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	1.89	0.24656	T	-1.67	0.39887	N	0.204	0.22614	-0.9772	0.35638	T	0.032	0.13592	T	9	0.0036647618	0.00067	T	0.001332	0.01885	T	0.006	0.00375	.	.	0.143124449307	0.13826	0.3593714767669015	0.35851	0.151937623519	0.17149	0.22824755311	0.01841	T	0.029273	0.21013	T	-0.658882	0.00064	T	-0.775562	0.02590	T	0.00140085972303628	0.00014	T	0.315568	0.06252	T	0.020081563	0.00554	0.040454477	0.04376	0.020081563	0.00554	0.040454477	0.04375	-3.937	0.22858	T	.	.	0.073	0.06710	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.731160	0.01250	0.064	0.32069138688701071	0.01839	0.00269	0.01464	N	AEFBI	0.041563	0.06335	N	-1.72593763727459	0.00753	0.03254914	-1.83717699914581	0.00647	0.02877756	0.999717407815277	0.42101	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.07	-5.86	0.02114	-1.375000	0.02670	.	.	-1.105000	0.01501	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5678:0.1788:0.0:0.2533	4.085	0.09417	571	0.70397	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.016113	0.025253	0.009511	0.038012	0.000000	0.034483	0.006098	0.000000	0.1	2350.12	34	chr10	122631872	.	C	T	2350.12	.	AC=2;AF=0.1;AN=20;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.01;SOR=0.718	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2373,243,0	9	1	0	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	483.18	158	chr10	122983003	.	G	C	483.18	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.281;DP=1155;ExcessHet=1.5895;FS=162.564;InbreedingCoeff=-0.2647;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.937;SOR=10.312	GT:AD:DP:GQ:PL	0/1:91,33:124:44:44,0,1244	6	0	4	0
chr10	124021237	124021239	GGG	-	exonic	CHST15	.	nonframeshift deletion	CHST15:NM_001270765:exon6:c.1364_1366del:p.P455del,CHST15:NM_014863:exon6:c.1364_1366del:p.P455del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0133	0.0104	0.0092	0.0019	0.0091	0.0170	0.0140	0.0133	3.84e-05	1	26028	rs761349367	0.0018	0.0036	0.0015	0.0020	0.0026	0.0017	0.0017	0.0022	0.0020	0.0018	0.0026	0.0039	0.0001	0.0031	0.0021	0.0016	0.0015	0.0024	8.706e-05	9.761e-05	8.234e-05	9.235e-05	0.0002	4.235e-05	3.096e-05	4.429e-05	2.914e-05	4.115e-05	0	0.0002	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	27267.9	65	chr10	124021236	.	CGGG	C	27267.9	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.519;DP=1175;ExcessHet=0;FS=20.291;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=33.66;ReadPosRankSum=0.563;SOR=0.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,16:90:99:.:.:3238,2056,1892:.	9	0	1	0
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	.	.	.	.	.	.	.	.	0.45	8292.02	133	chr10	124989543	.	T	C	8292.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.997;DP=1182;ExcessHet=15.1594;FS=11.175;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=50.01;MQRankSum=-8.13;QD=7.76;ReadPosRankSum=0.874;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,24:118:99:0|1:124989533_G_A:664,0,3804:124989533	1	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4284.98	127	chr10	124989564	.	TG	T	4284.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.961;DP=1243;ExcessHet=15.1594;FS=12.6;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=52;MQRankSum=-7.935;QD=3.92;ReadPosRankSum=-1.956;SOR=0.21	GT:AD:DP:GQ:PL	0/1:101,21:122:99:362,0,3384	1	0	9	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4849.02	142	chr10	124994489	.	T	G	4849.02	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.87;DP=1577;ExcessHet=22.563;FS=32.626;InbreedingCoeff=-0.998;MLEAC=10;MLEAF=0.5;MQ=58.54;MQRankSum=-5.718;QD=3.23;ReadPosRankSum=-4.421;SOR=3.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,14:177:97:0|1:124994489_T_G:97,0,6717:124994489	0	0	10	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	.	.	.	.	.	.	.	.	0.5	6034.04	150	chr10	124994501	.	G	A	6034.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.21;DP=1649;ExcessHet=22.563;FS=38.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.03;MQRankSum=-5.929;QD=3.89;ReadPosRankSum=-3.325;SOR=3.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,18:181:99:0|1:124994489_T_G:242,0,6775:124994489	0	0	10	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	.	.	.	.	.	.	.	.	0.5	6176.04	150	chr10	124994505	.	A	T	6176.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.17;DP=1668;ExcessHet=22.563;FS=40.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.93;MQRankSum=-5.733;QD=4.01;ReadPosRankSum=-2.482;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,18:180:99:0|1:124994489_T_G:245,0,6643:124994489	0	0	10	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	.	.	.	.	.	.	.	.	0.5	8820.04	174	chr10	124994530	.	G	A	8820.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.599;DP=1823;ExcessHet=22.563;FS=63.896;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.45;MQRankSum=-4.587;QD=5.36;ReadPosRankSum=1.32;SOR=4.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,25:192:99:0|1:124994523_G_A:304,0,6809:124994523	0	0	10	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12161.0	190	chr10	124994577	.	C	A	12161.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.833;DP=1897;ExcessHet=22.563;FS=80.112;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.03;MQRankSum=-5.452;QD=7.18;ReadPosRankSum=2.73;SOR=4.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,33:193:99:0|1:124994577_C_A:506,0,6458:124994577	0	0	10	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	.	.	.	.	.	.	.	.	0.3571	1004.29	183	chr10	124998077	.	C	G	1004.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.613;DP=1900;ExcessHet=2.8389;FS=16.906;InbreedingCoeff=-0.4814;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-8.775;QD=1.13;ReadPosRankSum=0.514;SOR=2.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,20:169:99:0|1:124998077_C_G:391,0,6123:124998077	2	0	5	3
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	.	.	.	.	.	.	.	.	0.3571	971.29	186	chr10	124998080	.	G	C	971.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.672;DP=1891;ExcessHet=2.8389;FS=14.731;InbreedingCoeff=-0.4812;MLEAC=6;MLEAF=0.429;MQ=58.72;MQRankSum=-8.749;QD=1.08;ReadPosRankSum=0.762;SOR=2.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,20:167:99:0|1:124998077_C_G:397,0,6080:124998077	2	0	5	3
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	.	.	.	.	.	.	.	.	0.3571	995.27	187	chr10	124998087	.	T	C	995.27	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.122;DP=1868;ExcessHet=2.8389;FS=17.019;InbreedingCoeff=-0.4808;MLEAC=6;MLEAF=0.429;MQ=58.66;MQRankSum=-8.749;QD=1.12;ReadPosRankSum=2.66;SOR=2.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,20:161:99:0|1:124998077_C_G:415,0,5860:124998077	2	0	5	3
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	.	.	.	.	.	.	.	.	0.3571	949.91	192	chr10	124998090	.	G	A	949.91	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.555;DP=1882;ExcessHet=2.8389;FS=14.717;InbreedingCoeff=-0.4625;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-8.697;QD=1.05;ReadPosRankSum=2.21;SOR=2.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,20:160:99:0|1:124998077_C_G:418,0,5809:124998077	2	0	5	3
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	1004.3	197	chr10	124998111	.	A	C	1004.3	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.527;DP=1890;ExcessHet=1.5895;FS=14.586;InbreedingCoeff=-0.3924;MLEAC=5;MLEAF=0.357;MQ=58.74;MQRankSum=-8.929;QD=1.45;ReadPosRankSum=3.72;SOR=2.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,20:160:99:0|1:124998111_A_C:418,0,5813:124998111	3	0	4	3
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	991.72	201	chr10	124998113	.	A	G	991.72	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.497;DP=1880;ExcessHet=1.5895;FS=14.586;InbreedingCoeff=-0.3802;MLEAC=5;MLEAF=0.357;MQ=58.73;MQRankSum=-9.005;QD=1.42;ReadPosRankSum=3.57;SOR=2.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,20:163:99:0|1:124998111_A_C:409,0,5893:124998111	3	0	4	3
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M,CTBP2:NM_022802:exon3:c.A1932G:p.I644M,CTBP2:NM_001321013:exon4:c.A312G:p.I104M,CTBP2:NM_001083914:exon5:c.A312G:p.I104M,CTBP2:NM_001290214:exon5:c.A312G:p.I104M,CTBP2:NM_001290215:exon5:c.A312G:p.I104M,CTBP2:NM_001321012:exon5:c.A312G:p.I104M,CTBP2:NM_001321014:exon5:c.A312G:p.I104M,CTBP2:NM_001329:exon5:c.A312G:p.I104M	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	391.26	71	chr10	125003006	.	T	C	391.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.859;DP=1251;ExcessHet=0.7463;FS=1.556;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.143;MQ=57.75;MQRankSum=-7.525;QD=1.15;ReadPosRankSum=0.028;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,11:135:89:0|1:125003006_T_C:89,0,5072:125003006	5	0	2	3
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V,CTBP2:NM_022802:exon3:c.A1930G:p.I644V,CTBP2:NM_001321013:exon4:c.A310G:p.I104V,CTBP2:NM_001083914:exon5:c.A310G:p.I104V,CTBP2:NM_001290214:exon5:c.A310G:p.I104V,CTBP2:NM_001290215:exon5:c.A310G:p.I104V,CTBP2:NM_001321012:exon5:c.A310G:p.I104V,CTBP2:NM_001321014:exon5:c.A310G:p.I104V,CTBP2:NM_001329:exon5:c.A310G:p.I104V	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	345.43	71	chr10	125003008	.	T	C	345.43	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.162;DP=1245;ExcessHet=0.7463;FS=1.552;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.143;MQ=57.72;MQRankSum=-7.525;QD=1.01;ReadPosRankSum=0.105;SOR=0.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,11:136:86:0|1:125003006_T_C:86,0,5105:125003006	5	0	2	3
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q,CTBP2:NM_022802:exon3:c.G1928A:p.R643Q,CTBP2:NM_001321013:exon4:c.G308A:p.R103Q,CTBP2:NM_001083914:exon5:c.G308A:p.R103Q,CTBP2:NM_001290214:exon5:c.G308A:p.R103Q,CTBP2:NM_001290215:exon5:c.G308A:p.R103Q,CTBP2:NM_001321012:exon5:c.G308A:p.R103Q,CTBP2:NM_001321014:exon5:c.G308A:p.R103Q,CTBP2:NM_001329:exon5:c.G308A:p.R103Q	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	366.43	71	chr10	125003010	.	C	T	366.43	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.846;DP=1243;ExcessHet=0.7463;FS=1.56;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.143;MQ=57.67;MQRankSum=-7.424;QD=1.1;ReadPosRankSum=0.244;SOR=0.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,11:131:99:0|1:125003006_T_C:101,0,4997:125003006	5	0	2	3
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S,CTBP2:NM_022802:exon3:c.A1876T:p.T626S,CTBP2:NM_001321013:exon4:c.A256T:p.T86S,CTBP2:NM_001083914:exon5:c.A256T:p.T86S,CTBP2:NM_001290214:exon5:c.A256T:p.T86S,CTBP2:NM_001290215:exon5:c.A256T:p.T86S,CTBP2:NM_001321012:exon5:c.A256T:p.T86S,CTBP2:NM_001321014:exon5:c.A256T:p.T86S,CTBP2:NM_001329:exon5:c.A256T:p.T86S	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	467.54	71	chr10	125003062	.	T	A	467.54	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.847;DP=1240;ExcessHet=0.7463;FS=10.427;InbreedingCoeff=-0.2903;MLEAC=4;MLEAF=0.286;MQ=57.77;MQRankSum=-6.885;QD=1.42;ReadPosRankSum=1.84;SOR=1.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,11:112:99:0|1:125003062_T_A:158,0,4149:125003062	4	0	3	3
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F,CTBP2:NM_022802:exon3:c.A1873T:p.I625F,CTBP2:NM_001321013:exon4:c.A253T:p.I85F,CTBP2:NM_001083914:exon5:c.A253T:p.I85F,CTBP2:NM_001290214:exon5:c.A253T:p.I85F,CTBP2:NM_001290215:exon5:c.A253T:p.I85F,CTBP2:NM_001321012:exon5:c.A253T:p.I85F,CTBP2:NM_001321014:exon5:c.A253T:p.I85F,CTBP2:NM_001329:exon5:c.A253T:p.I85F	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	455.54	71	chr10	125003065	.	T	A	455.54	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.948;DP=1249;ExcessHet=0.7463;FS=10.458;InbreedingCoeff=-0.2903;MLEAC=4;MLEAF=0.286;MQ=57.8;MQRankSum=-6.885;QD=1.36;ReadPosRankSum=1.85;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,11:112:99:0|1:125003062_T_A:158,0,4136:125003062	4	0	3	3
chr10	125003091	125003091	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.C431T:p.A144V,CTBP2:NM_022802:exon3:c.C1847T:p.A616V,CTBP2:NM_001321013:exon4:c.C227T:p.A76V,CTBP2:NM_001083914:exon5:c.C227T:p.A76V,CTBP2:NM_001290214:exon5:c.C227T:p.A76V,CTBP2:NM_001290215:exon5:c.C227T:p.A76V,CTBP2:NM_001321012:exon5:c.C227T:p.A76V,CTBP2:NM_001321014:exon5:c.C227T:p.A76V,CTBP2:NM_001329:exon5:c.C227T:p.A76V	.	423	874	217	8	0	233	0.117617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.0396646121041	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3198935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.04	0.53788	D	0.997	0.70673	D	0.9	0.67350	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.63	0.41750	L	0.64	0.52867	T	-3.59	0.72353	D	0.83	0.86404	-0.7342	0.58751	T	0.234	0.60063	T	10	0.85133255	0.84313	D	0.039665	0.58940	D	0.428	0.73517	0.615	0.74884	0.805301142055	0.80348	0.9739020719154817	0.97380	1.79913636405	0.91619	0.833252906799	0.87062	D	0.558733	0.85191	D	0.278003	0.81145	D	0.161556	0.80903	D	0.981222689151764	0.73791	D	0.836316	0.50742	T	0.71443444	0.78852	0.29747087	0.55780	0.71443444	0.78854	0.29747087	0.55779	-11.965	0.84680	D	.	.	0.991	0.94980	P	.;.;.;.;.;.	.;.;.;.;.;.	4.805965	0.78137	26.8	0.99882348519737318	0.95813	0.98748	0.86347	D	AEFDGBCI	0.955612	0.97357	D	0.457477404135832	0.64629	4.721769	0.367611348405123	0.59576	4.136584	1.0	0.98316	0.645754	0.44609	0	0.633656	0.55848	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	10.003000	0.99689	11.683000	0.94248	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.222000	0.22517	0.0:0.0:1.0:0.0	17.956	0.88988	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	39.52	71	chr10	125003091	.	G	A	39.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.358;DP=1120;ExcessHet=0;FS=4.623;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.071;MQ=56.9;MQRankSum=-5.513;QD=0.41;ReadPosRankSum=-1.246;SOR=0.691	GT:AD:DP:GQ:PL	0/1:86,11:97:49:49,0,2704	6	0	1	3
chr10	132850429	132850429	A	G	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon41:c.T5767C:p.W1923R	.	422	990	104	6	0	116	0.0553435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	.	0.0049	0.00698882	0.0251	0.0032	0.0181	0	0.0076	0.0216	0.0670	0.0544	0.0075549	1168	154602	rs151247898	0.0098	0.0098	0.0090	0.0106	0.0394	0.0097	0.0096	0.0352	0.0335	0.0016	0.0064	0.0063	0.0001	0.0023	0.0394	0.0092	0.0105	0.0306	0.0077	0.0077	0.0078	0.0076	0.0319	0.0073	0.0072	0.0278	0.0263	0.0018	0.0242	0.0105	0.0066	0.0002	0.0020	0.0136	0.0101	0.0109	0.0319	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000100	0.51296	D	0.000000	0.972875	0.25577	N	.	.	.	0.18	0.60361	T	-6.82	0.92980	D	0.862	0.85872	-0.5380	0.67239	T	0.235	0.60234	T	10	0.008827597	0.00200	T	.	.	.	0.399	0.71321	.	.	0.468420198123	0.46471	0.5736029430132835	0.57289	0.719680404555	0.62146	0.545271277428	0.45189	T	0.201223	0.55904	T	-0.258478	0.13079	T	-0.122432	0.61602	T	0.0439943876900533	0.04419	T	0.339966	0.07337	T	0.86401325	0.88393	0.6436816	0.79174	0.86401325	0.88395	0.6436816	0.79174	-9.648	0.71778	D	.	.	0.911	0.83497	P	.	.	3.258967	0.44559	22.0	0.97795370841995799	0.36027	0.21783	0.21522	N	AEFDBI	0.078318	0.15800	N	0.24639609896864	0.53461	3.514831	0.110938199862891	0.45107	2.779827	0.00201962742530028	0.09087	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.14	4.14	0.47821	2.663000	0.46440	3.858000	0.40123	0.756000	0.94297	0.983000	0.35670	0.996000	0.32793	0.049000	0.15107	1.0:0.0:0.0:0.0	9.858	0.40267	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	0.032760	0.016484	0.031335	0.032847	0.000000	0.034483	0.039735	0.030534	0.1	2189.14	33	chr10	132850429	.	A	G	2189.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.624;DP=486;ExcessHet=0.2348;FS=4.853;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.703;SOR=1.03	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1151,0,1580	8	0	2	0
chr10	132877923	132877923	-	TCCTTCTCTTTACTCCTCTCATTC	exonic	CFAP46	.	nonframeshift insertion	CFAP46:NM_001200049:exon30:c.4169_4170insGAATGAGAGGAGTAAAGAGAAGGA:p.K1389_D1390insENERSKEK	.	435	1033	46	8	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0229	0.0011	0.0102	0.0020	0	0.0170	0.0617	0.0319	0.0008837	23	26028	rs752660068	0.0053	0.0051	0.0041	0.0065	0.0285	0.0052	0.0051	0.0265	0.0261	0.0011	0.0060	0.0189	0.0003	0.0019	0.0285	0.0035	0.0080	0.0275	0.0066	0.0068	0.0069	0.0062	0.0248	0.0062	0.0061	0.0211	0.0198	0.0014	0.0157	0.0080	0.0237	0.0004	0.0011	0.0171	0.0084	0.0086	0.0248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1399.41	31	chr10	132877923	.	G	GTCCTTCTCTTTACTCCTCTCATTC	1399.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.537;DP=358;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-2.813;SOR=0.639	GT:AD:DP:GQ:PL	0/1:16,16:32:99:580,0,586	7	0	3	0
chr10	132922556	132922556	G	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon12:c.C1409A:p.T470N	.	416	1065	39	2	0	43	0.0197883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.00978435	0.0177	0.0037	0.0146	0	0	0.0107	0.0195	0.0251	0.0033311	515	154602	rs41301115	0.0105	0.0100	0.0099	0.0111	0.0279	0.0103	0.0103	0.0269	0.0266	0.0013	0.0072	0.0096	5.598e-05	0.0070	0.0101	0.0101	0.0106	0.0279	0.0079	0.0079	0.0072	0.0087	0.0296	0.0076	0.0074	0.0256	0.0241	0.0015	0	0.0092	0.0104	0	0.0090	0.0068	0.0105	0.0066	0.0296	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.752325	0.09690	N	0.860345	1	0.08975	N	.	.	.	3.04	0.08810	T	1.45	0.00785	N	0.025	0.00485	-1.0095	0.27074	T	0.027	0.11441	T	7	0.0035613477	0.00064	T	.	.	.	0.029	0.06676	.	.	.	.	0.09840789490100733	0.09771	0.124680466888	0.14042	0.364000618458	0.19967	T	0.003978	0.03393	T	-0.770917	0.00013	T	-0.859196	0.00851	T	0.00565307856650111	0.00062	T	0.393561	0.09813	T	0.03946856	0.05456	0.04422583	0.05683	0.03946856	0.05456	0.04422583	0.05683	-4.835	0.34997	T	.	.	0.065	0.02038	B	.	.	-0.983138	0.00795	0.026	0.20066372410375613	0.00705	0.03741	0.09041	N	AEFDBI	0.044977	0.07303	N	-0.843404712010184	0.12212	0.593932	-0.952104417135243	0.10874	0.5505145	0.0965582444146482	0.16256	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.28	-0.649	0.10885	-0.188000	0.09638	-1.355000	0.05637	-0.854000	0.02687	0.027000	0.20232	0.000000	0.08366	0.001000	0.02609	0.0:0.1079:0.5276:0.3645	6.353	0.20592	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	.	.	.	.	.	.	.	.	0.15	3498.43	34	chr10	132922556	.	G	T	3498.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.34;DP=650;ExcessHet=0;FS=1.351;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=19.44;ReadPosRankSum=-0.672;SOR=0.556	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1220,0,1107	8	1	1	0
chr11	403658	403658	G	C	exonic	PKP3	.	nonsynonymous SNV	PKP3:NM_007183:exon10:c.G1964C:p.R655P,PKP3:NM_001303029:exon11:c.G2009C:p.R670P	.	.	.	.	.	.	.	.	.	.	.	2226793	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.442	0.234823050066	0.0012	0.000199681	0.0007	0.0003	8.74e-05	0	0.0014	0.0011	0	6.066e-05	0.0006921	107	154602	rs147657735	0.0014	0.0014	0.0014	0.0013	0.0017	0.0013	0.0013	0.0016	0.0016	0.0004	0.0004	0	0	0.0007	0.0002	0.0017	0.0014	3.478e-05	0.0009	0.0009	0.0011	0.0008	0.0015	0.0008	0.0008	0.0013	0.0012	0.0003	0	0.0012	0	0	0.0002	0.0034	0.0015	0.0019	0	0.017	0.51248	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000102	0.50451	D	0.088251	0.999996	0.58761	D	1.83	0.48079	L	0.82	0.48142	T	-3.41	0.67129	D	0.758	0.75650	-0.4254	0.71216	T	0.282	0.65428	T	10	0.45453444	0.58907	T	0.234823	0.88427	D	0.442	0.74518	.	.	0.719764416955	0.71729	0.849706703130897	0.84932	0.488356790436	0.47638	0.740916252136	0.73109	T	0.600057	0.87168	D	-0.23596	0.15868	T	-0.147095	0.59500	T	0.134772643446922	0.15816	T	0.926307	0.72903	D	0.76697844	0.81867	0.6506326	0.79559	0.76697844	0.81869	0.6506326	0.79560	-10.313	0.75764	D	.	.	0.982	0.91448	P	.	.	5.840032	0.93776	33	0.99680214468223149	0.79174	0.99320	0.94451	D	AEFBI	0.981503	0.99876	D	0.57138288761622	0.71394	5.644104	0.482751126166689	0.66846	5.005693	0.999750246963523	0.42595	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.85	3.85	0.43556	6.173000	0.71852	11.414000	0.92699	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.0:1.0:0.0	16.335	0.82888	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1843.43	42	chr11	403658	.	G	C	1843.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.602;DP=488;ExcessHet=0;FS=1.385;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.211;SOR=0.558	GT:AD:DP:GQ:PL	0/1:67,74:141:99:1855,0,1499	9	0	1	0
chr11	865826	865829	GTGA	-	splicing	TSPAN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.422e-05	0	0.0002	0.0002	0	1.607e-05	0	0	3.23e-05	5	154602	rs776268263	3.425e-05	3.42e-05	2.453e-05	4.407e-05	0.0001	2.635e-05	2.378e-05	4.369e-05	2.774e-05	0	0.0001	0	5.045e-05	0	0	3.868e-05	0	0	5.251e-05	5.249e-05	7.708e-05	2.685e-05	0.0002	2.555e-05	1.829e-05	2.257e-05	9.06e-06	2.405e-05	0	0.0001	0	0.0002	0	0.0034	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2694.39	36	chr11	865825	.	GGTGA	G	2694.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.061;DP=526;ExcessHet=0;FS=0.614;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.71;ReadPosRankSum=-0.364;SOR=0.76	GT:AD:DP:GQ:PL	0/1:74,70:144:99:2706,0,2896	9	0	1	0
chr11	1017891	1017891	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4910A:p.A1637E	.	342	893	161	0	126	287	0.0826913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00160847877757	.	.	3.335e-05	0	0	0	0.0002	4.536e-05	0	0	.	.	.	.	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.113	0.36901	T	0.985	0.61118	D	0.885	0.62825	P	.	.	.	.	1	0.08975	N	1.3	0.32576	L	2.22	0.18248	T	-0.18	0.09796	N	0.053	0.02462	-1.0932	0.05020	T	0.035	0.15074	T	9	0.102692544	0.18837	T	0.001608	0.02600	T	0.060	0.17295	.	.	0.281780670237	0.27795	0.09278683405377418	0.09210	0.103695909574	0.11733	0.165941432118	0.00020	T	0.020064	0.15863	T	-0.330459	0.06077	T	-0.712458	0.05169	T	0.0870277977061818	0.10862	T	.	.	.	0.080301575	0.18392	0.11164214	0.26933	0.080301575	0.18391	0.11164214	0.26932	-9.307	0.69651	D	.	.	0.118	0.23986	B	.	.	1.309505	0.17126	12.97	0.3105354391461434	0.01730	0.01241	0.04378	N	AEFDGBCI	0.027707	0.02312	N	-0.93578728676145	0.10013	0.4765682	-1.16165150961472	0.06561	0.3162101	0.999990071190048	0.74766	0.675202	0.55065	0	0.606735	0.50208	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.39	-1.75	0.07598	-0.994000	0.03827	-3.104000	0.03058	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.4593:0.5407	9.313	0.37079	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3736.16	416	chr11	1017891	.	G	T	3736.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.622;DP=4792;ExcessHet=0.7463;FS=3.94;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=55.73;MQRankSum=-8.448;QD=2.27;ReadPosRankSum=0.23;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:441,58:499:99:0|1:1017891_G_T:1042,0,18342:1017891	8	0	2	0
chr11	1017980	1017980	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4821G:p.H1607Q	.	377	1113	31	0	1	32	0.013735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00294131736266	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77536353	0	1.71e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.071	0.35165	T	0.546	0.09555	T	0.963	0.55692	D	0.828	0.59497	P	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.29	0.17113	T	-0.52	0.16187	N	0.064	0.03613	-1.0438	0.16177	T	0.055	0.23072	T	9	0.11826384	0.22355	T	0.002941	0.06250	T	0.018	0.03083	0.176	0.08257	0.338834610459	0.33488	0.12495968873936728	0.12421	0.089077498397	0.10066	0.168520405889	0.00027	T	0.028716	0.20737	T	-0.37366	0.03413	T	-0.774513	0.02623	T	0.0780681323622793	0.09738	T	.	.	.	0.03696404	0.04647	0.047161993	0.06733	0.03696404	0.04647	0.047161993	0.06733	-7.978	0.60920	D	.	.	0.096	0.15475	B	.	.	0.227088	0.06087	2.531	0.53594529813230063	0.04970	0.02502	0.06989	N	AEFDGBCI	0.045586	0.07473	N	-0.61535458523796	0.18482	0.9599189	-0.889736591911147	0.12336	0.6339777	0.98217000833971	0.30362	0.660377	0.49826	0	0.694456	0.67091	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.39	-0.544	0.11254	-0.991000	0.03839	-20.000000	0.00162	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2309:0.2258:0.5434:0.0	3.857	0.08487	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	97.14	342	chr11	1017980	.	G	C	97.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.8;DP=3777;ExcessHet=0.2348;FS=17.339;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=54.62;MQRankSum=-4.684;QD=0.18;ReadPosRankSum=-2.834;SOR=3.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:238,19:257:81:0|1:1017955_C_T:81,0,9896:1017955	8	0	2	0
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	7445.87	286	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	7445.87	.	AC=4;AF=0.222;AN=18;BaseQRankSum=3.63;DP=5381;ExcessHet=8.3924;FS=0;InbreedingCoeff=-0.5278;MLEAC=4;MLEAF=0.222;MQ=57.39;MQRankSum=-5.608;QD=2.82;ReadPosRankSum=-0.805;SOR=0.713	GT:AD:DP:GQ:PL	0/1:185,72:290:99:1569,0,13882	5	0	4	1
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	582.16	190	chr11	1096155	.	C	*	582.16	.	AC=6;AF=0.333;AN=18;BaseQRankSum=0.891;DP=5240;ExcessHet=8.3924;FS=0.551;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.333;MQ=55.84;MQRankSum=-3.048;QD=0.26;ReadPosRankSum=-4.847;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:185,33:290:99:.:.:470,0,7387:.	3	0	6	1
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1293.0	252	chr11	1096180	.	C	*	1293.0	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.242;DP=4319;ExcessHet=5.3821;FS=0.539;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.429;MQ=55.92;MQRankSum=-4.469;QD=0.74;ReadPosRankSum=-1.534;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,33:290:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:470,0,7387:1096141	2	0	5	3
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1288.98	254	chr11	1096181	.	C	*	1288.98	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.144;DP=4320;ExcessHet=5.3821;FS=0.539;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.429;MQ=55.94;MQRankSum=-4.522;QD=0.73;ReadPosRankSum=-1.305;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,33:290:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:470,0,7387:1096141	2	0	5	3
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1269.43	263	chr11	1096211	.	A	*	1269.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.64;DP=4341;ExcessHet=5.3821;FS=0;InbreedingCoeff=-0.6027;MLEAC=6;MLEAF=0.5;MQ=56.43;MQRankSum=-4.857;QD=0.68;ReadPosRankSum=6.96;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,128:313:99:0|1:1096193_GGC_G:4285,0,7044:1096193	1	0	5	4
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1268.43	261	chr11	1096212	.	C	*	1268.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.89;DP=4341;ExcessHet=5.3821;FS=0;InbreedingCoeff=-0.6027;MLEAC=6;MLEAF=0.5;MQ=56.5;MQRankSum=-4.926;QD=0.68;ReadPosRankSum=7.08;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,128:313:99:0|1:1096193_GGC_G:4285,0,7044:1096193	1	0	5	4
chr11	1097253	1097253	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	638	875	8	0	1	9	0.00455063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0298371299834	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179715210	0.0027	0.0052	0.0027	0.0027	0.0097	0.0026	0.0025	0.0086	0.0082	0.0097	0.0029	0.0052	0.0069	0.0056	0.0037	0.0021	0.0053	0.0006	0.0033	0.0072	0.0031	0.0035	0.0093	0.0030	0.0029	0.0064	0.0054	0.0054	0.0016	0.0015	0.0033	0.0093	0.0024	0	0.0023	0.0023	0.0055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015856	0.005319	0.027523	0.015152	0.000000	0.075000	0.019231	0.009804	0.15	876.45	74	chr11	1097253	.	C	A	876.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.965;DP=2442;ExcessHet=0.7463;FS=4.605;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=38.84;MQRankSum=-1.552;QD=0.89;ReadPosRankSum=-2.798;SOR=1.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:332,37:369:99:0|1:1097198_G_A:281,0,11149:1097198	7	0	3	0
chr11	1097584	1097584	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	640	870	3	3	6	15	0.0051458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409182406	0.0007	0.0023	0.0006	0.0007	0.0014	0.0006	0.0006	0.0010	0.0009	0.0014	0.0009	0.0007	0.0011	0.0021	0.0003	0.0006	0.0007	0.0009	0.0004	0.0014	0.0002	0.0005	0.0016	0.0002	0.0001	0.0001	6.105e-05	0.0004	0	0.0004	0.0015	0	0.0008	0	0.0002	0	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1097.9	48	chr11	1097584	.	C	T	1097.9	.	AC=2;AF=0.25;AN=8;BaseQRankSum=3.8;DP=1813;ExcessHet=0.2348;FS=1.703;InbreedingCoeff=-0.3319;MLEAC=3;MLEAF=0.375;MQ=54.37;MQRankSum=-4.057;QD=2.68;ReadPosRankSum=2.64;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,13:137:18:0|1:1097561_A_T:18,0,5082:1097561	2	0	2	6
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	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	.	.	.	.	.	.	.	.	0.15	303.45	69	chr11	1097805	.	C	A	303.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.576;DP=903;ExcessHet=0.7463;FS=33.983;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=35.9;MQRankSum=0.114;QD=1.21;ReadPosRankSum=-0.617;SOR=4.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,6:73:49:0|1:1097750_G_A:49,0,2780:1097750	7	0	3	0
chr11	1250829	1250829	G	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G13949C:p.R4650T	.	412	1091	19	0	0	19	0.00863244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0022	0.00998403	0.0078	0.0013	0.0019	0.0008	0.0003	0.0046	0.0076	0.0333	0.0063453	981	154602	rs199704716	0.0072	0.0081	0.0063	0.0081	0.0330	0.0071	0.0070	0.0319	0.0315	0.0013	0.0025	0.0089	0.0013	0.0011	0.0084	0.0059	0.0083	0.0330	0.0050	0.0050	0.0047	0.0052	0.0340	0.0047	0.0045	0.0297	0.0281	0.0018	0.0011	0.0038	0.0084	0.0014	0.0007	0.0071	0.0059	0.0044	0.0340	0.431	0.09514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-2.175	0.00131	N	2.35	0.16217	T	0.04	0.06488	N	0.026	0.00527	-0.9827	0.34375	T	0.015	0.06042	T	8	0.0036625862	0.00067	T	.	.	.	0.011	0.01250	.	.	0.043077524339	0.03247	0.2217473112674907	0.22089	.	.	0.260108709335	0.04903	T	0.015076	0.12713	T	-0.76032	0.00015	T	-0.841238	0.01080	T	0.00187877007298295	0.00019	T	0.210079	0.02530	T	0.060935345	0.12560	0.072975256	0.15807	0.060935345	0.12560	0.072975256	0.15806	0.131	0.00306	T	.	.	0.045	0.00051	B	.	.	-0.635716	0.01477	0.091	0.487978647465171	0.04102	0.00039	0.00329	N	AEFBI	.	.	.	-1.63730307468543	0.01090	0.04729457	-1.6896799995214	0.01183	0.05326659	9.02248078799318E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.418	0.418	0.15647	-1.258000	0.02973	-2.843000	0.03305	-1.908000	0.00517	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008529	0.000000	0.001362	0.008403	0.000000	0.008621	0.018405	0.022727	0.05	2102.43	211	chr11	1250829	.	G	C	2102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.391;DP=1869;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.72;MQRankSum=-3.368;QD=11.24;ReadPosRankSum=-0.684;SOR=0.727	GT:AD:DP:GQ:PL	0/1:109,78:187:99:2114,0,3153	9	0	1	0
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4786.48	40	chr11	1630364	.	AGTCC	*	4786.48	.	AC=6;AF=0.3;AN=20;DP=1478;ExcessHet=0.3701;FS=2.566;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=57.54;QD=4.74;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,82:203:99:.:.:1973,0,4200:.	4	0	6	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4769.48	40	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*	4769.48	.	AC=6;AF=0.3;AN=20;DP=1478;ExcessHet=0.3701;FS=1.818;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=57.7;QD=4.76;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,82:189:99:0|1:1630366_TCCAGC_*:2080,0,3699:1630366	4	0	6	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	17335.9	40	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	17335.9	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.85;DP=1824;ExcessHet=0.6204;FS=1.237;InbreedingCoeff=0.0476;MLEAC=8;MLEAF=0.4;MQ=59.01;MQRankSum=-4.506;QD=12.68;ReadPosRankSum=0.914;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,85:167:99:.:.:6251,2871,3512:.	4	2	4	0
chr11	1747855	1747855	G	A	exonic	IFITM10	.	nonsynonymous SNV	IFITM10:NM_001170820:exon2:c.C349T:p.R117W	.	403	1063	53	3	0	59	0.0270023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0059	0.00479233	0.0135	0.0010	0.0091	0	0.0013	0.0118	0.0060	0.0327	0.0031759	491	154602	rs190833491	0.0086	0.0083	0.0082	0.0091	0.0270	0.0085	0.0084	0.0235	0.0222	0.0016	0.0058	0.0158	0	0.0026	0.0270	0.0085	0.0095	0.0180	0.0058	0.0058	0.0059	0.0056	0.0133	0.0055	0.0053	0.0106	0.0097	0.0015	0.0011	0.0059	0.0173	0.0002	0.0014	0.0340	0.0081	0.0119	0.0133	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.304973	0.14532	U	0.585427	0.949505	0.37655	D	0.895	0.22405	L	0.7	0.51474	T	-3.29	0.65742	D	0.496	0.52918	-0.8802	0.49746	T	0.099	0.37034	T	8	0.007443428	0.00169	T	.	.	.	0.113	0.31778	.	.	0.483670899158	0.47999	0.4080566555781379	0.40721	.	.	0.858771443367	0.90929	D	0.079636	0.36175	T	-0.403777	0.02186	T	-0.337838	0.40590	T	0.0390152272993604	0.03513	T	0.90231	0.65919	D	0.23435475	0.46254	0.26971132	0.52854	0.23435475	0.46254	0.26971132	0.52853	-5.023	0.37089	T	.	.	0.217	0.57230	B	.;.;.	.;.;.	3.162821	0.42862	21.6	0.99864039732502885	0.94184	0.79864	0.39661	D	AEFDBHCIJ	0.464640	0.51305	N	-0.075401472781962	0.38473	2.25391	-0.103824497521162	0.35235	2.036153	0.999999223515479	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.620976	0.48614	0	.	.	2.6	2.6	0.30173	2.462000	0.44706	4.026000	0.41295	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.094000	0.17991	0.0:0.0:0.7973:0.2027	10.006	0.41129	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	0.025194	0.005155	0.004167	0.009709	0.166667	0.068182	0.051402	0.062500	0.05	2685.43	37	chr11	1747855	.	G	A	2685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.453;DP=562;ExcessHet=0;FS=0.476;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.272;SOR=0.73	GT:AD:DP:GQ:PL	0/1:117,115:232:99:2697,0,2666	9	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	0.2	8215.57	39	chr11	1956322	.	G	A	8215.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.86;DP=958;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.45;SOR=0.706	GT:AD:DP:GQ:PL	0/1:104,100:204:99:2403,0,2597	6	0	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	0.15	7130.45	125	chr11	4653052	.	A	G	7130.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.26;DP=1515;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.512;SOR=0.705	GT:AD:DP:GQ:PL	0/1:79,66:145:99:1704,0,2284	7	0	3	0
chr11	5342819	5342819	G	C	exonic	OR51B5	.	nonsynonymous SNV	OR51B5:NM_001005567:exon5:c.C706G:p.L236V	.	436	1059	23	4	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00581998553089	0.0019	0.000599042	0.0025	0.0006	0.0012	0	0.0012	0.0026	0.0033	0.0063	0.002348	363	154602	rs140543559	0.0029	0.0029	0.0028	0.0029	0.0068	0.0028	0.0028	0.0064	0.0062	0.0003	0.0009	0.0007	2.519e-05	0.0012	0.0066	0.0030	0.0027	0.0068	0.0019	0.0019	0.0017	0.0021	0.0068	0.0017	0.0016	0.0050	0.0044	0.0005	0	0.0016	0.0009	0	0.0015	0.0068	0.0027	0.0024	0.0068	0.02	0.49613	D	0.018	0.59732	D	0.997	0.70673	D	0.968	0.71741	D	0.177258	0.17202	N	0.415917	1	0.81001	D	2.785	0.81254	M	8.65	0.00144	T	-2.53	0.54864	D	0.11	0.09631	-0.9521	0.40608	T	0.001	0.00438	T	10	0.005307317	0.00116	T	0.00582	0.15131	T	0.130	0.35528	.	.	0.274366138417	0.27033	0.022311389364349156	0.02183	0.0136984243272	0.01312	0.18676237762	0.00173	T	0.009763	0.08869	T	-0.56003	0.00254	T	-0.573635	0.15117	T	0.0331144742684216	0.02490	T	0.961004	0.85375	D	0.092088416	0.21594	0.17780884	0.40407	0.092088416	0.21594	0.17780884	0.40407	-6.222	0.48101	T	.	.	0.124	0.26010	B	.	.	1.331477	0.17365	13.12	0.99798359245562285	0.88372	0.44720	0.27380	N	AEFGBI	0.307269	0.41419	N	0.166970966708866	0.49619	3.16022	-0.00928002046424085	0.39294	2.327644	0.0308478271183786	0.13968	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.92	2.06	0.25932	-1.192000	0.03161	.	.	-0.742000	0.03659	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.4306:0.0:0.5694:0.0	7.043	0.24212	870	0.31527	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	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.003788	0.05	3126.43	36	chr11	5342819	.	G	C	3126.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.758;DP=546;ExcessHet=0;FS=0.488;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.535;SOR=0.656	GT:AD:DP:GQ:PL	0/1:111,121:232:99:3138,0,2826	9	0	1	0
chr11	6630130	6630130	G	T	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon10:c.C4664A:p.P1555Q	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0057983207862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.185	0.28958	T	0.021	0.18474	B	0.026	0.20792	B	0.000393	0.44960	D	0.000000	0.535504	0.32010	D	1.81	0.47622	L	4.67	0.01735	T	-1.3	0.32590	N	0.269	0.30461	-1.1317	0.01703	T	0.010	0.03856	T	10	0.11152524	0.20886	T	0.005798	0.15072	T	0.102	0.29158	0.457	0.52265	0.295226631146	0.29124	0.6586779977676052	0.65804	0.768272729556	0.64638	0.502455472946	0.39170	T	0.132169	0.46209	T	-0.224116	0.17434	T	-0.559704	0.16404	T	0.691428303718567	0.40314	D	0.751525	0.37371	T	0.04905398	0.08650	0.06823634	0.14223	0.04905398	0.08649	0.06823634	0.14223	-5.635	0.43111	T	.	.	0.131	0.28145	B	.	.	4.118113	0.61526	24.3	0.9881281280720281	0.46655	0.43753	0.27168	N	AEFDGBCI	0.162262	0.28842	N	-0.247320425823186	0.31210	1.747782	-0.18580808398558	0.32056	1.820101	0.999999977142135	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.64067	0.45733	0	0.714379	0.83352	0	.	.	4.92	4.0	0.45673	1.730000	0.37748	8.446000	0.77207	0.652000	0.53365	0.279000	0.25131	1.000000	0.68203	0.983000	0.59808	0.0787:0.1416:0.7797:0.0	9.87	0.40337	238	0.90711	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	0.001008	0.005102	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	962.43	33	chr11	6630130	.	G	T	962.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.365;DP=384;ExcessHet=0;FS=11.19;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=2.41;SOR=0.142	GT:AD:DP:GQ:PL	0/1:31,38:69:99:974,0,876	9	0	1	0
chr11	7043303	7043303	G	T	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon4:c.G1277T:p.R426I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	.	.	0.00259585	0.0014	0.0002	0	0.0001	0	0	0.0022	0.0097	0.0011902	184	154602	rs202085594	0.0005	0.0005	0.0003	0.0008	0.0083	0.0005	0.0005	0.0078	0.0076	0.0001	0	0	0	0	0.0002	1.799e-06	0.0011	0.0083	0.0003	0.0003	0.0002	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	4.809e-05	0	0.0001	0	0	0	0	0	0	0.0081	0.024	0.47745	D	0.029	0.54541	D	0.022	0.18677	B	0.027	0.21085	B	0.372254	0.13510	N	0.700768	0.999998	0.08975	N	1.665	0.42610	L	-1.79	0.83815	D	-2.37	0.52289	N	0.301	0.34012	-0.6426	0.63035	T	0.374	0.73257	T	10	0.016143084	0.00340	T	.	.	.	0.169	0.43123	0.541	0.65304	0.630428069638	0.62740	0.2934849814337536	0.29261	0.0234266952015	0.02374	0.251926898956	0.03973	T	0.041407	0.25847	T	-0.374765	0.03360	T	-0.304844	0.44210	T	0.0105440160050438	0.00146	T	0.788521	0.42806	T	0.17480965	0.38305	0.13406786	0.32135	0.17480965	0.38304	0.13406786	0.32135	-6.145	0.47477	T	.	.	0.115	0.22933	B	.	.	1.165163	0.15545	11.93	0.94709113028767133	0.25370	0.17599	0.19906	N	AEFBI	0.190302	0.31753	N	-0.838306274238912	0.12339	0.600862	-0.901906912291123	0.12050	0.6175664	1.29454748261518E-4	0.05386	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.48	1.27	0.20595	0.171000	0.16497	0.912000	0.22635	0.676000	0.76740	0.003000	0.16062	0.087000	0.22477	0.002000	0.04165	0.4532:0.0:0.5468:0.0	6.613	0.21958	687	0.59234	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2406.43	55	chr11	7043303	.	G	T	2406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.146;DP=610;ExcessHet=0;FS=2.45;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-1.091;SOR=0.686	GT:AD:DP:GQ:PL	0/1:106,92:198:99:2418,0,2880	9	0	1	0
chr11	7648505	7648505	T	A	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon14:c.T1336A:p.L446I,PPFIBP2:NM_001256568:exon15:c.T1429A:p.L477I,PPFIBP2:NM_001351858:exon16:c.T1534A:p.L512I,PPFIBP2:NM_001351860:exon16:c.T1558A:p.L520I,PPFIBP2:NM_001351861:exon16:c.T1534A:p.L512I,PPFIBP2:NM_001351857:exon17:c.T1567A:p.L523I,PPFIBP2:NM_001351859:exon17:c.T1567A:p.L523I,PPFIBP2:NM_001351854:exon18:c.T1765A:p.L589I,PPFIBP2:NM_001351856:exon18:c.T1771A:p.L591I,PPFIBP2:NM_003621:exon18:c.T1765A:p.L589I,PPFIBP2:NM_001351853:exon19:c.T1798A:p.L600I,PPFIBP2:NM_001351855:exon19:c.T1798A:p.L600I,PPFIBP2:NM_001351862:exon19:c.T1765A:p.L589I	.	430	1058	34	0	0	34	0.015814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	.	0.0016	0.0061901	0.0050	0.0008	0.0048	0.0002	0.0005	0.0024	0.0077	0.0228	0.0045019	696	154602	rs149157151	0.0039	0.0039	0.0032	0.0045	0.0245	0.0038	0.0037	0.0237	0.0233	0.0004	0.0035	0.0001	5.038e-05	0.0004	0.0052	0.0027	0.0043	0.0245	0.0026	0.0026	0.0021	0.0031	0.0262	0.0024	0.0023	0.0225	0.0211	0.0004	0	0.0037	0	0	0.0005	0	0.0026	0.0038	0.0262	0.0	0.91255	D	0.063	0.92824	T	0.985	0.61118	D	0.987	0.77487	D	0.000023	0.55875	D	0.000000	0.788904	0.34361	D	2.79	0.81396	M	0.61	0.53516	T	-1.85	0.43334	N	0.769	0.79118	-0.4659	0.69868	T	0.212	0.57307	T	10	0.0106392205	0.00236	T	.	.	.	0.262	0.57482	.	.	0.574091456918	0.57077	0.49773145617975584	0.49694	0.231808938952	0.25732	0.570495069027	0.48747	T	0.120955	0.44357	T	-0.29851	0.08801	T	-0.183312	0.56215	T	0.0556828833515985	0.06471	T	0.889011	0.61998	D	0.3305879	0.55519	0.30209062	0.56241	0.3305879	0.55519	0.30209062	0.56240	-11.804	0.83883	D	.	.	0.282	0.51497	B	.;.;.;.	.;.;.;.	3.173236	0.43041	21.7	0.99424277596642729	0.63935	0.72408	0.35442	D	AEDBI	0.298969	0.40814	N	0.323836889841474	0.57374	3.904504	0.225831262289025	0.51286	3.312396	0.504164713094992	0.20967	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.87	0.919	0.18518	1.289000	0.32913	1.482000	0.26828	0.665000	0.62972	0.690000	0.28531	0.951000	0.29025	0.847000	0.40026	0.0:0.3758:0.0:0.6242	8.367	0.31555	770	0.49152	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 1;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 1;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007560	0.000000	0.002717	0.008772	0.000000	0.008621	0.003049	0.034351	0.05	971.43	35	chr11	7648505	.	T	A	971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.678;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.217;SOR=0.66	GT:AD:DP:GQ:PL	0/1:30,35:65:99:983,0,780	9	0	1	0
chr11	7928005	7928005	G	A	exonic	OR10A6	.	stopgain	OR10A6:NM_001004461:exon1:c.C658T:p.R220X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.255e-06	0	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs267603211	4.994e-05	4.994e-05	5.718e-05	4.263e-05	8.964e-05	4.059e-05	3.734e-05	4.265e-05	3.837e-05	8.964e-05	2.24e-05	0	0	0	0	5.396e-05	0.0001	1.159e-05	3.945e-05	4.597e-05	3.856e-05	4.038e-05	0.0003	1.716e-05	1.13e-05	8.891e-05	5.395e-05	0	0	0.0003	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.287139	0.14836	N	0.503989	0.999978	0.53665	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261863	0.79701	D	0.202017	0.83240	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	8.081407	0.97159	37	0.91818852933635653	0.21127	0.02338	0.06684	N	AEFGBI	0.047871	0.08110	N	-0.220879592952697	0.32278	1.818621	-0.5762032245944	0.20113	1.082241	3.36458786771513E-4	0.06583	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.43	0.33	0.15169	-0.213000	0.09309	-1.581000	0.05125	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.2689:0.0:0.3631:0.368	2.687	0.04793	862	0.33134	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1475.43	66	chr11	7928005	.	G	A	1475.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.864;DP=727;ExcessHet=0;FS=2.373;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.722;SOR=0.477	GT:AD:DP:GQ:PL	0/1:62,56:118:99:1487,0,1553	9	0	1	0
chr11	8621239	8621239	T	C	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon15:c.A2810G:p.Q937R	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0279840144915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.181	0.29346	T	0.761	0.43566	P	0.332	0.42135	B	0.000132	0.49741	D	0.000000	0.963017	0.26042	N	2.47	0.71715	M	0.99	0.41750	T	-1.5	0.36980	N	0.165	0.19728	-1.0052	0.28397	T	0.106	0.38685	T	10	0.13149083	0.25026	T	0.027984	0.50729	D	0.128	0.35103	0.078	0.00601	0.597678041844	0.59447	0.4648957740633748	0.46408	.	.	0.525457262993	0.42395	T	0.005709	0.05159	T	-0.225475	0.17253	T	-0.561656	0.16222	T	0.921543419361115	0.58124	D	0.616838	0.23625	T	0.22723497	0.45420	0.15218635	0.35816	0.22723497	0.45420	0.15218635	0.35815	-3.897	0.22258	T	.	.	0.084	0.26762	B	.;.;.	.;.;.	3.567113	0.50221	22.9	0.9779040921773261	0.35995	0.86879	0.46259	D	AEFDBI	0.142844	0.26539	N	0.135467023779215	0.48123	3.028765	0.179644416757533	0.48733	3.085274	0.0174139578012526	0.12948	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	5.15	3.97	0.45241	0.492000	0.22144	3.580000	0.39154	0.654000	0.53741	0.100000	0.22794	1.000000	0.68203	0.784000	0.37066	0.0:0.0:0.1563:0.8437	10.92	0.46369	503	0.75780	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1737.43	36	chr11	8621239	.	T	C	1737.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=450;ExcessHet=0;FS=1.385;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.183;SOR=0.835	GT:AD:DP:GQ:PL	0/1:60,72:132:99:1749,0,1330	9	0	1	0
chr11	17645856	17645856	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon55:c.G8690A:p.R2897H,OTOG:NM_001292063:exon56:c.G8654A:p.R2885H	Deafness, autosomal recessive 18B, Autosomal recessive	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.047195144698	.	.	0.0002	0	0	0	0	0.0002	0	0.0004	3.88e-05	6	154602	rs767373345	8.152e-05	7.798e-05	7.761e-05	8.554e-05	0.0004	6.899e-05	6.42e-05	0.0002	0.0001	9.494e-05	0	0	2.798e-05	0	0.0004	7.414e-05	0.0001	0.0003	3.942e-05	3.94e-05	3.854e-05	4.034e-05	0.0002	1.715e-05	1.129e-05	1.171e-05	6.25e-06	2.412e-05	0	0	0	0.0002	0	0	4.41e-05	0	0.0002	0.014	0.53172	D	0.0	0.92824	D	.	.	.	.	.	.	0.000026	0.55875	U	0.000000	1	0.81001	D	1.905	0.50856	L	2.14	0.19450	T	-2.41	0.52938	N	0.73	0.82358	-1.0766	0.08023	T	0.111	0.39888	T	8	0.6784022	0.71131	D	0.047195	0.62810	D	0.227	0.52620	0.656	0.79379	0.223847106136	0.22009	0.4447327900146119	0.44391	.	.	0.760700702667	0.76033	T	0.29957	0.67210	T	-0.12825	0.31778	T	-0.103926	0.63091	T	0.375277131795883	0.28001	T	0.952005	0.82399	D	0.17419085	0.38209	0.14289273	0.33979	0.17419085	0.38209	0.14289273	0.33978	-7.684	0.58896	D	.	.	0.242	0.47589	B	.;.	.;.	5.388667	0.90281	31	0.99939740096929097	0.99767	0.98528	0.83745	D	AEFBI	0.880594	0.80735	D	0.485651550680925	0.66251	4.926178	0.530382205215658	0.70045	5.447695	0.999999999819551	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.28	5.28	0.74118	9.163000	0.93904	9.827000	0.81838	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.452000	0.27939	0.0:0.0:1.0:0.0	18.949	0.92607	686	0.59327	Cystine knot, C-terminal|Cystine knot, C-terminal;Cystine knot, C-terminal|Cystine knot, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4090.14	172	chr11	17645856	.	G	A	4090.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.994;DP=611;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.11;SOR=0.718	GT:AD:DP:GQ:PL	0/1:82,73:155:99:1786,0,1995	8	0	2	0
chr11	35206198	35206198	A	G	exonic	CD44	.	nonsynonymous SNV	CD44:NM_001001389:exon10:c.A1240G:p.I414V,CD44:NM_000610:exon11:c.A1369G:p.I457V	.	428	1048	42	4	0	50	0.0232992	.	.	.	724415	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.018	.	0.0012	0.00419329	0.0051	9.612e-05	0.0025	0	0	0.0019	0.0132	0.0271	0.0043984	680	154602	rs140510483	0.0027	0.0027	0.0018	0.0035	0.0261	0.0026	0.0026	0.0252	0.0248	0.0003	0.0015	0.0031	5.056e-05	3.745e-05	0.0172	0.0011	0.0036	0.0261	0.0018	0.0018	0.0013	0.0023	0.0207	0.0016	0.0015	0.0175	0.0162	0.0002	0	0.0014	0.0040	0	0	0.0306	0.0017	0.0014	0.0207	0.212	0.19854	T	1.0	0.12211	T	0.0	0.02946	B	0.001	0.06944	B	0.086558	0.20581	N	0.455727	0.950778	0.37710	D	0.255	0.09829	N	2.84	0.20387	T	-0.42	0.14193	N	0.113	0.10769	-1.0358	0.18606	T	0.094	0.35604	T	10	0.0032230914	0.00055	T	.	.	.	0.028	0.06331	.	.	0.146414634003	0.14194	0.10272548602318497	0.10202	0.0387608282298	0.04121	0.248365327716	0.03598	T	0.24548	0.61479	T	-0.628595	0.00098	T	-0.656113	0.08531	T	0.00108250113076798	0.00010	T	0.714029	0.32905	T	0.032998156	0.03432	0.046259083	0.06409	0.032998156	0.03432	0.046259083	0.06409	-3.36	0.14523	T	.	.	0.073	0.06433	B	.;.;.;.	.;.;.;.	-0.171630	0.03238	0.545	0.5231850831793089	0.04725	0.06643	0.12660	N	AEFGBHCI	0.089151	0.18071	N	-1.09676346202009	0.06702	0.3092912	-1.20747916356194	0.05789	0.2768153	0.999463579887593	0.39843	0.614807	0.35715	0	0.577304	0.33150	0	0.602189	0.34648	0	0.645948	0.59608	0	.	.	4.76	-3.36	0.04606	-0.931000	0.04076	0.078000	0.14353	-0.635000	0.04468	0.175000	0.24000	0.001000	0.17328	0.002000	0.04165	0.445:0.0:0.555:0.0	10.890	0.46198	883	0.28872	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021652	0.020202	0.010870	0.020468	0.000000	0.017241	0.024390	0.053030	0.05	1128.43	35	chr11	35206198	.	A	G	1128.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.029;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.376;SOR=0.675	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1140,0,1033	9	0	1	0
chr11	55994391	55994391	G	A	exonic	OR5F1	.	nonsynonymous SNV	OR5F1:NM_003697:exon1:c.C235T:p.P79S	.	430	1052	40	0	0	40	0.0186567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	.	0.0025	0.00339457	0.0045	0.0010	0.0032	0	0.0006	0.0044	0.0088	0.0115	0.0041461	641	154602	rs144123172	0.0036	0.0036	0.0033	0.0039	0.0125	0.0035	0.0035	0.0114	0.0111	0.0006	0.0028	0.0146	0	0.0005	0.0125	0.0030	0.0044	0.0120	0.0031	0.0031	0.0032	0.0030	0.0098	0.0029	0.0028	0.0075	0.0067	0.0008	0	0.0046	0.0115	0.0002	0.0003	0	0.0040	0.0038	0.0098	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999765	0.48888	D	3.415	0.91848	M	4.6	0.01868	T	-7.33	0.94566	D	0.434	0.47301	-1.0590	0.12007	T	0.024	0.10013	T	9	0.008101344	0.00184	T	.	.	.	0.341	0.66297	.	.	0.553913597673	0.55050	0.32035287559718434	0.31948	0.0793572366355	0.08926	0.259348064661	0.04813	T	0.044532	0.26845	T	-0.320121	0.06888	T	-0.22222	0.52522	T	0.0579174086102847	0.06836	T	0.908909	0.67748	D	0.80138326	0.83994	0.58413935	0.75887	0.80138326	0.83995	0.58413935	0.75888	-8.388	0.63686	D	.	.	0.386	0.58785	A	.	.	3.739859	0.53550	23.4	0.99841104463419506	0.92143	0.99097	0.91181	D	AEFI	0.600502	0.59311	D	0.645069260386401	0.76049	6.415539	0.446268625743228	0.64478	4.703868	0.893234601683298	0.25901	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.03	3.03	0.34070	6.955000	0.75805	3.671000	0.39437	0.312000	0.19173	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:0.0:1.0:0.0	12.892	0.57469	161	0.93754	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	0.013105	0.000000	0.014946	0.002924	0.000000	0.008621	0.012270	0.034091	0.1	3974.14	70	chr11	55994391	.	G	A	3974.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.65;DP=631;ExcessHet=0.2348;FS=3.366;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.01;MQRankSum=-0.456;QD=14.83;ReadPosRankSum=-0.727;SOR=0.778	GT:AD:DP:GQ:PL	0/1:61,97:158:99:2531,0,1360	8	0	2	0
chr11	56701016	56701016	C	T	exonic	OR9G1;OR9G9	.	nonsynonymous SNV	OR9G9:NM_001013358:exon1:c.C629T:p.A210V,OR9G1:NM_001005213:exon2:c.C629T:p.A210V	.	400	1119	3	0	0	3	0.00133869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00348474336047	.	.	0.0014	0.0004	0.0016	0	0.0003	0.0021	0.0022	0.0002	0.0010867	168	154602	rs138263863	0.0010	0.0018	0.0010	0.0010	0.0019	0.0009	0.0009	0.0011	0.0010	0.0002	0.0011	0.0028	5.038e-05	0.0003	0.0019	0.0011	0.0011	0.0001	0.0012	0.0015	0.0013	0.0011	0.0025	0.0011	0.0010	0.0019	0.0016	0.0004	0	0.0025	0.0029	0	0.0003	0	0.0017	0.0005	0	0.476	0.08335	T	0.738	0.05018	T	0.032	0.20242	B	0.152	0.34249	B	0.669861	0.10351	N	0.837278	1	0.08975	N	0.11	0.08516	N	1.31	0.35405	T	1.82	0.00501	N	0.08	0.05542	-0.9396	0.42679	T	0.026	0.10998	T	10	0.005960077	0.00134	T	0.003485	0.07878	T	0.065	0.18881	.	.	0.1749357433	0.17121	0.055413513455526295	0.05482	0.0021997615759	0.00188	0.167352437973	0.00023	T	0.001596	0.01030	T	-0.377805	0.03216	T	-0.780467	0.02439	T	0.0234454499978936	0.01076	T	0.522448	0.17034	T	0.022995716	0.01004	0.036214836	0.03024	0.022995716	0.01004	0.036214836	0.03024	-2.978	0.09946	T	.	.	0.100	0.17016	B	.;.	.;.	-0.703329	0.01314	0.071	0.58917946813618272	0.06103	0.00161	0.00961	N	AEFBI	0.027132	0.02161	N	-1.32334929055803	0.03409	0.1522477	-1.27514634275585	0.04769	0.2257362	0.997535004055587	0.35727	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.52	0.014	0.13419	-3.398000	0.00538	.	.	-0.286000	0.06345	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3207:0.0:0.6793	9.272	0.36835	438	0.80235	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	0.003109	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	245.43	223	chr11	56701016	.	C	T	245.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.448;DP=2185;ExcessHet=0;FS=2.69;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.473;SOR=0.858	GT:AD:DP:GQ:PL	0/1:186,27:213:99:257,0,6345	9	0	1	0
chr11	57494049	57494049	G	A	exonic	SLC43A1	.	nonsynonymous SNV	SLC43A1:NM_001198810:exon8:c.C815T:p.S272L,SLC43A1:NM_003627:exon8:c.C815T:p.S272L	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0126954476438	0.0012	0.000199681	0.0013	0.0002	0.0007	0	0	0.0019	0.0033	0.0013	0.0011772	182	154602	rs141990229	0.0012	0.0012	0.0011	0.0013	0.0050	0.0012	0.0012	0.0036	0.0031	0.0003	0.0005	7.685e-05	2.544e-05	7.494e-05	0.0050	0.0014	0.0009	0.0012	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0005	0.0010	0.0009	0.0002	0	0.0005	0	0	0	0.0034	0.0012	0.0009	0.0006	0.31	0.14843	T	0.328	0.18675	T	0.371	0.34093	B	0.067	0.27542	B	0.161907	0.03045	N	1.609460	1	0.08975	N	-0.14	0.04484	N	1.9	0.30669	T	-1.53	0.37178	N	0.09	0.06854	-1.0628	0.11069	T	0.032	0.13548	T	10	0.006629914	0.00150	T	0.012695	0.31483	T	0.008	0.00669	.	.	0.139678290688	0.13603	0.25561401696310515	0.25475	0.233796027641	0.25916	0.287250071764	0.08523	T	0.410513	0.76523	T	-0.59587	0.00154	T	-0.635966	0.09967	T	0.000961220960894041	0.00009	T	0.760024	0.40643	T	0.040809218	0.05896	0.038986206	0.03888	0.040809218	0.05895	0.038986206	0.03888	-4.199	0.26737	T	.	.	0.070	0.03849	B	.;.;.	.;.;.	0.657047	0.10255	6.990	0.70767765664971805	0.09404	0.07936	0.13922	N	AEFDGBHCI	0.160504	0.28644	N	-1.19770406255005	0.05035	0.228595	-1.23845956227133	0.05304	0.2524006	0.999673704608104	0.41644	0.562547	0.31514	0	0.653731	0.59785	0	0.601644	0.32324	0	0.635551	0.53088	0	.	.	5.28	-2.25	0.06498	0.056000	0.14136	0.575000	0.19646	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.0817:0.3581:0.2288:0.3314	3.276	0.06494	71	0.96981	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.007576	0.05	1306.43	34	chr11	57494049	.	G	A	1306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.73;DP=436;ExcessHet=0;FS=3.304;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.5;SOR=1	GT:AD:DP:GQ:PL	0/1:69,52:121:99:1318,0,1496	9	0	1	0
chr11	57546586	57546586	T	C	exonic	SMTNL1	.	nonsynonymous SNV	SMTNL1:NM_001105565:exon7:c.T1274C:p.F425S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.950	0.654611149581	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410688382	2.736e-06	2.736e-06	1.361e-06	4.126e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	5.618e-05	0.0002	0	0	0	6.571e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	9.407e-05	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.006300	0.32136	U	0.000000	0.999997	0.58761	D	3.235	0.89610	M	-3.54	0.94799	D	-8.0	0.96495	D	0.931	0.98167	1.042	0.97957	D	0.914	0.97167	D	10	0.97522545	0.97264	D	0.654611	0.97085	D	0.950	0.99058	.	.	0.704652368328	0.70208	0.773031221992298	0.77253	.	.	0.742881834507	0.73397	T	0.838524	0.98762	D	0.539013	0.95377	D	0.536479	0.95308	D	0.998911261558533	0.95567	D	0.970403	0.89535	D	0.848136	0.87198	0.8023758	0.88419	0.848136	0.87200	0.8023758	0.88420	.	.	.	.	.	0.998	0.97401	P	.;.	.;.	4.666541	0.74536	26.2	0.99887352159742837	0.96204	0.97760	0.76934	D	AEFDBI	0.917280	0.88467	D	0.819649663298548	0.87319	9.176865	0.739133014595694	0.85343	8.552227	0.999998211664295	0.74766	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	4.74	4.74	0.59717	7.961000	0.87447	7.877000	0.72286	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.809000	0.38129	0.0:0.0:0.0:1.0	13.342	0.59992	0	0.99858	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2673.14	124	chr11	57546586	.	T	C	2673.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.139;DP=542;ExcessHet=0.2348;FS=2.102;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.079;SOR=0.835	GT:AD:DP:GQ:PL	0/1:65,69:134:99:1504,0,1431	8	0	2	0
chr11	58191155	58191155	T	G	exonic	OR9Q2	.	nonsynonymous SNV	OR9Q2:NM_001005283:exon1:c.T665G:p.I222S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0102389242837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.034	0.52727	D	0.993	0.65571	D	0.936	0.67150	D	0.152163	0.17931	N	0.463064	1	0.08975	N	2.59	0.75718	M	8.56	0.00185	T	-4.32	0.76655	D	0.408	0.44857	-0.9036	0.47606	T	0.002	0.00646	T	10	0.37605628	0.53840	T	0.010239	0.26544	T	0.144	0.38394	0.552	0.66856	0.433269665224	0.42948	0.41074728160468243	0.40990	0.726015332404	0.62491	0.312070131302	0.12220	T	0.077652	0.35704	T	-0.155771	0.27412	T	-0.46153	0.26431	T	0.929652810096741	0.59385	D	0.761424	0.38629	T	0.48890394	0.66437	0.42564547	0.66367	0.48890394	0.66438	0.42564547	0.66367	-6.351	0.49125	T	.	.	0.207	0.43380	B	.;.	.;.	3.441457	0.47879	22.5	0.98544507221884159	0.42757	0.33250	0.24783	N	AEFBI	0.194653	0.32173	N	0.204356690405035	0.51409	3.322455	0.00741311531832586	0.40058	2.384693	4.55941433130536E-4	0.07036	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.96	4.96	0.65153	1.174000	0.31541	1.115000	0.24192	0.665000	0.62972	0.002000	0.15269	0.002000	0.18203	0.103000	0.18424	0.0:0.0:0.0:1.0	14.255	0.65591	360	0.84920	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	.	.	.	.	.	.	.	.	0.05	2480.43	159	chr11	58191155	.	T	G	2480.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.496;DP=895;ExcessHet=0;FS=1.772;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.064;SOR=0.835	GT:AD:DP:GQ:PL	0/1:98,94:192:99:2492,0,2717	9	0	1	0
chr11	59212195	59212195	G	A	exonic	MPEG1	.	nonsynonymous SNV	MPEG1:NM_001039396:exon1:c.C671T:p.S224F	.	432	1067	23	0	0	23	0.010663	.	.	.	2816654	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.581	0.109063054341	0.0005	0.00159744	0.0014	0.0001	0.0007	0.0001	0	0.0006	0.0056	0.0068	0.0012031	186	154602	rs199564440	0.0008	0.0008	0.0005	0.0010	0.0118	0.0007	0.0007	0.0095	0.0087	0.0001	0.0004	0	0	0	0.0118	0.0003	0.0012	0.0074	0.0005	0.0005	0.0003	0.0006	0.0056	0.0004	0.0003	0.0040	0.0034	7.215e-05	0	0.0010	0	0.0004	0	0.0068	0.0003	0.0009	0.0056	0.002	0.72154	D	0.008	0.67890	D	0.997	0.70673	D	0.924	0.65913	D	0.000919	0.41128	D	0.209762	0.992239	0.41590	D	3.025	0.86340	M	-2.02	0.85542	D	-4.77	0.80425	D	0.307	0.34659	0.592	0.91798	D	0.722	0.90481	D	10	0.00936386	0.00211	T	0.109063	0.78587	D	0.581	0.83137	.	.	0.526842377483	0.52331	0.7044099644671507	0.70382	0.435791415156	0.43679	0.440109074116	0.30591	T	0.173415	0.52228	T	-0.215622	0.18594	T	-0.0780778	0.65045	T	0.110150559866975	0.13439	T	0.816918	0.47330	T	0.69930744	0.78018	0.5693405	0.75065	0.69930744	0.78020	0.5693405	0.75066	-7.736	0.59257	D	.	.	0.187	0.40295	B	.	.	4.098738	0.61106	24.3	0.99752504692820532	0.84382	0.89856	0.50597	D	AEFDGBCI	0.855345	0.77245	D	0.55146161098157	0.70172	5.462542	0.450143075056292	0.64725	4.734498	0.999999999403566	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.21	5.21	0.72005	5.908000	0.69653	11.798000	0.96570	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.111000	0.18785	0.0:0.0:1.0:0.0	15.741	0.77655	559	0.71409	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	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.006793	0.026316	0.000000	0.017241	0.006098	0.003788	0.1	3444.14	129	chr11	59212195	.	G	A	3444.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.419;DP=554;ExcessHet=0.2348;FS=2.193;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.306;SOR=0.851	GT:AD:DP:GQ:PL	0/1:54,58:112:99:1547,0,1330	8	0	2	0
chr11	61482774	61482774	G	A	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon4:c.G347A:p.R116Q,PPP1R32:NM_145017:exon4:c.G347A:p.R116Q	.	418	1053	47	4	0	55	0.0254512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0052	0.00319489	0.0082	0.0028	0.0042	0	0.0043	0.0102	0.0119	0.0114	0.0073673	1139	154602	rs140046775	0.0074	0.0074	0.0071	0.0078	0.0127	0.0073	0.0073	0.0119	0.0116	0.0033	0.0043	0.0025	0	0.0046	0.0127	0.0078	0.0071	0.0125	0.0063	0.0063	0.0064	0.0062	0.0114	0.0060	0.0058	0.0090	0.0081	0.0033	0.0164	0.0046	0.0035	0.0002	0.0048	0.0238	0.0087	0.0090	0.0114	0.041	0.42487	D	0.072	0.43344	T	0.454	0.36182	P	0.071	0.27960	B	0.018228	0.27531	N	0.249758	0.790906	0.34385	D	2.035	0.55589	M	0.8	0.48769	T	-2.27	0.50666	N	0.24	0.27077	-0.9881	0.33077	T	0.085	0.33185	T	10	0.0055578053	0.00123	T	.	.	.	0.098	0.28162	.	.	0.400756358115	0.39691	0.2824901324341105	0.28162	0.173007313036	0.19485	0.270249664783	0.06173	T	0.014843	0.12562	T	-0.447336	0.01171	T	-0.404956	0.32807	T	0.0144965262439168	0.00295	T	0.70443	0.31478	T	0.050360326	0.09085	0.0727772	0.15741	0.050360326	0.09084	0.0727772	0.15740	-3.792	0.20685	T	.	.	0.078	0.06756	B	.;.	.;.	1.455047	0.18768	13.91	0.9974269381755424	0.83629	0.19156	0.20550	N	AEFDGBHCI	0.132172	0.25138	N	-0.362726907490392	0.26808	1.465919	-0.395163743188018	0.25140	1.380801	0.99999999999439	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.298653	0.05632	1	0.691587	0.68394	0	.	.	5.06	4.15	0.47978	0.448000	0.21443	-0.747000	0.07594	0.586000	0.30580	0.103000	0.22855	0.000000	0.08366	0.141000	0.19983	0.0919:0.0:0.9081:0.0	10.523	0.44121	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008577	0.005051	0.010899	0.008824	0.000000	0.008621	0.012270	0.003788	0.1	1596.12	36	chr11	61482774	.	G	A	1596.12	.	AC=2;AF=0.1;AN=20;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.3;SOR=1.201	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1619,153,0	9	1	0	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	.	.	.	.	.	.	.	.	0.375	1996.68	82	chr11	61740527	.	G	C	1996.68	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.572;DP=871;ExcessHet=4.5998;FS=250.847;InbreedingCoeff=-0.5345;MLEAC=7;MLEAF=0.438;MQ=59.99;MQRankSum=0;QD=3.38;ReadPosRankSum=2.09;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,29:93:99:0|1:61740527_G_C:595,0,2028:61740527	2	0	6	2
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	.	.	.	.	.	.	.	.	0.5	4287.03	85	chr11	61740531	.	T	C	4287.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.113;DP=1125;ExcessHet=22.563;FS=268.204;InbreedingCoeff=-0.9992;MLEAC=10;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=3.99;ReadPosRankSum=1.35;SOR=10.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,29:92:99:0|1:61740527_G_C:597,0,2021:61740527	0	0	10	0
chr11	62523343	62523343	A	G	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.T11074C:p.S3692P,AHNAK:NM_001346446:exon5:c.T11074C:p.S3692P,AHNAK:NM_001620:exon5:c.T11074C:p.S3692P	.	421	1100	1	0	0	1	0.000454339	.	.	.	3961296	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.0164100229253	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs757953310	8.898e-06	8.893e-06	4.086e-06	1.376e-05	0.0003	4.97e-06	3.83e-06	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	7.196e-06	4.971e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.58089	D	0.979	0.59044	D	0.839	0.60107	P	0.906810	0.08581	N	0.940197	1	0.08975	N	2.83	0.82355	M	4.56	0.01933	T	-2.51	0.54546	D	0.374	0.41557	-1.0280	0.21103	T	0.030	0.12892	T	10	0.27191812	0.44732	T	0.01641	0.37653	T	0.185	0.45933	0.134	0.03833	0.373897652646	0.36997	0.013129249173180205	0.01270	0.211705828522	0.23670	0.348933517933	0.17766	T	0.276943	0.64954	T	-0.103618	0.35826	T	-0.386617	0.34949	T	0.461362903906816	0.31215	T	0.667533	0.27667	T	0.2771566	0.50774	0.29142228	0.55167	0.2771566	0.50774	0.29142228	0.55166	-10.788	0.78482	D	.	.	0.304	0.53293	B	.	.	1.742658	0.22170	15.51	0.94360529945793536	0.24717	0.76688	0.37632	D	AEFBI	.	.	.	-7.52462584216462e-05	0.41853	2.510837	-0.219452678172296	0.30838	1.739877	0.328903048248652	0.19464	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.32	2.89	0.32713	1.395000	0.34129	.	.	0.677000	0.82338	0.885000	0.31090	0.000000	0.08366	0.123000	0.19290	0.5825:0.2821:0.0:0.1354	7.366	0.25948	235	0.90838	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	6390.12	33	chr11	62523343	.	A	G	6390.12	.	AC=2;AF=0.1;AN=20;DP=618;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.77;SOR=1.325	GT:AD:DP:GQ:PL	1/1:0,195:195:99:6413,585,0	9	1	0	0
chr11	65021808	65021808	G	A	exonic	ARL2	.	nonsynonymous SNV	ARL2:NM_001199745:exon4:c.G427A:p.D143N,ARL2:NM_001667:exon5:c.G508A:p.D170N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0779550836376	.	0.000199681	1.661e-05	9.722e-05	8.678e-05	0	0	0	0	0	3.84e-05	1	26028	rs200574613	3.217e-05	3.283e-05	3.541e-05	2.889e-05	5.974e-05	2.479e-05	2.221e-05	2.626e-05	2.305e-05	5.974e-05	4.473e-05	3.827e-05	0	0	0	3.507e-05	3.312e-05	1.159e-05	6.567e-05	6.562e-05	7.709e-05	5.372e-05	0.0002	3.514e-05	2.615e-05	6.269e-05	4.29e-05	0.0001	0	0.0002	0	0	0	0	1.47e-05	0	0	0.299	0.14546	T	0.217	0.26145	T	0.014	0.16867	B	0.022	0.19653	B	0.000259	0.46924	U	0.149281	1	0.81001	D	1.72	0.44442	L	-0.1	0.82347	T	-3.16	0.65512	D	0.639	0.69737	-0.2170	0.77231	T	0.473	0.79774	T	10	0.48319083	0.60553	T	0.077955	0.72891	D	0.262	0.57482	.	.	0.799559620043	0.79768	0.6369421274755466	0.63628	0.286882814568	0.31084	0.50641477108	0.39722	T	0.13651	0.46893	T	-0.114668	0.33998	T	-0.226642	0.52096	T	0.281321250294405	0.24227	T	0.982102	0.93912	D	0.3746632	0.58927	0.2454198	0.50030	0.3746632	0.58927	0.2454198	0.50029	-5.452	0.42250	T	.	.	0.155	0.38871	B	.;.;.	.;.;.	3.909159	0.56999	23.8	0.99704584085810866	0.80867	0.98449	0.82893	D	AEFDBI	0.907581	0.86178	D	0.138899073187791	0.48286	3.042871	0.265694956357251	0.53548	3.52311	0.999999999970995	0.74766	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	4.5	4.5	0.54382	9.486000	0.96912	11.547000	0.93161	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	14.747	0.69114	329	0.86514	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	3423.12	36	chr11	65021808	.	G	A	3423.12	.	AC=2;AF=0.1;AN=20;DP=466;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.01;SOR=1.085	GT:AD:DP:GQ:PL	1/1:0,118:118:99:3446,354,0	9	1	0	0
chr11	77590426	77590426	A	C	exonic	AQP11	.	nonsynonymous SNV	AQP11:NM_001363477:exon1:c.A434C:p.Q145P,AQP11:NM_173039:exon1:c.A434C:p.Q145P	.	430	1070	22	0	0	22	0.0101758	.	.	.	2813577	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.261	0.083264955827	0.0042	0.00239617	0.0037	0.0012	0.0048	0	0.0003	0.0053	0.0044	0.0012	0.0036545	565	154602	rs145893530	0.0059	0.0059	0.0060	0.0058	0.0078	0.0058	0.0058	0.0068	0.0068	0.0012	0.0053	0.0025	5.038e-05	0.0003	0.0078	0.0070	0.0062	0.0014	0.0043	0.0043	0.0045	0.0041	0.0089	0.0040	0.0039	0.0077	0.0072	0.0017	0	0.0089	0.0012	0	9.427e-05	0.0170	0.0062	0.0066	0.0006	0.202	0.20230	T	0.152	0.32249	T	0.11	0.26188	B	0.072	0.28043	B	0.122917	0.18937	N	0.580480	1	0.08975	N	1.245	0.31408	L	-1.95	0.85003	D	-1.12	0.28906	N	0.214	0.23884	-0.8907	0.48873	T	0.133	0.44642	T	10	0.006157875	0.00139	T	0.083265	0.74077	D	0.261	0.57352	.	.	0.77023634194	0.76813	0.6218066726886482	0.62113	0.724929908737	0.62421	0.25926721096	0.04804	T	0.290695	0.66346	T	-0.30452	0.08240	T	-0.200804	0.54570	T	0.00296987028726989	0.00031	T	0.60234	0.22547	T	0.27303013	0.50372	0.26322335	0.52126	0.27303013	0.50371	0.26322335	0.52125	-4.334	0.28651	T	.	.	0.063	0.01534	B	.	.	1.644318	0.20984	15.00	0.86587087383490335	0.16636	0.43664	0.27148	N	ALL	0.468235	0.51512	N	-0.944095465145088	0.09826	0.4667635	-0.818460089257118	0.14048	0.7320476	0.999999073711257	0.74766	0.685219	0.55550	0	0.516746	0.08562	0	0.674405	0.61402	0	0.618803	0.45993	0	.	.	5.54	1.79	0.23992	1.704000	0.37476	2.655000	0.33841	0.691000	0.84096	0.021000	0.19753	0.999000	0.35428	0.191000	0.21631	0.7482:0.0:0.2518:0.0	8.037	0.29657	371	0.84287	.	.	.	.	.	.	Likely benign	0	0	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	0.020202	0.012228	0.000000	0.000000	0.008621	0.012195	0.003788	0.1	8088.14	42	chr11	77590426	.	A	C	8088.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.539;DP=765;ExcessHet=0.2348;FS=10.49;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=0.03;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,116:205:99:0|1:77590426_A_C:4530,0,3310:77590426	8	0	2	0
chr11	77590427	77590427	G	T	exonic	AQP11	.	nonsynonymous SNV	AQP11:NM_001363477:exon1:c.G435T:p.Q145H,AQP11:NM_173039:exon1:c.G435T:p.Q145H	.	432	1068	22	0	0	22	0.0101946	.	.	.	2813578	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.093	0.0857217094285	0.0042	0.00239617	0.0037	0.0012	0.0048	0	0.0003	0.0053	0.0044	0.0011	0.0036481	564	154602	rs117458417	0.0059	0.0059	0.0060	0.0058	0.0078	0.0058	0.0058	0.0068	0.0068	0.0012	0.0053	0.0025	5.038e-05	0.0003	0.0078	0.0070	0.0062	0.0013	0.0043	0.0043	0.0045	0.0041	0.0089	0.0040	0.0039	0.0077	0.0072	0.0017	0	0.0089	0.0012	0	9.427e-05	0.0170	0.0062	0.0066	0.0006	0.067	0.35918	T	0.042	0.50226	D	0.0	0.02946	B	0.002	0.06944	B	0.122917	0.18937	N	0.580480	1	0.08975	N	1.245	0.31408	L	-1.98	0.85247	D	-1.42	0.34992	N	0.021	0.00339	-0.8529	0.51767	T	0.185	0.53361	T	10	0.0056094825	0.00124	T	0.085722	0.74590	D	0.093	0.26882	0.379	0.39482	0.786729234469	0.78475	0.23597778875359826	0.23512	0.82945304597	0.67562	0.260296195745	0.04926	T	0.375488	0.73908	T	-0.479925	0.00740	T	-0.45276	0.27391	T	0.00589196671451376	0.00065	T	0.448855	0.12628	T	0.06446556	0.13681	0.06976676	0.14741	0.06446556	0.13680	0.06976676	0.14740	-3.127	0.11609	T	.	.	0.102	0.18037	B	.	.	2.034810	0.25866	16.91	0.94974682886674278	0.25906	0.30284	0.24043	N	ALL	0.199495	0.32629	N	-0.915129244643713	0.10488	0.5014076	-0.811395508365201	0.14219	0.7418653	0.999999237364034	0.74766	0.685219	0.55550	0	0.516746	0.08562	0	0.674405	0.61402	0	0.618803	0.45993	0	.	.	5.54	2.52	0.29514	0.305000	0.19006	0.775000	0.21430	-0.182000	0.10109	0.002000	0.15269	0.998000	0.33993	0.204000	0.22012	0.0698:0.1263:0.5426:0.2612	5.224	0.14706	371	0.84287	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.020202	0.012228	0.000000	0.000000	0.008621	0.012195	0.003788	0.1	8088.14	42	chr11	77590427	.	G	T	8088.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.78;DP=766;ExcessHet=0.2348;FS=10.49;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=0.152;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,116:205:99:0|1:77590426_A_C:4530,0,3310:77590426	8	0	2	0
chr11	86559793	86559793	G	C	exonic	ME3	.	nonsynonymous SNV	ME3:NM_001014811:exon2:c.C214G:p.Q72E,ME3:NM_001161586:exon3:c.C214G:p.Q72E,ME3:NM_001351934:exon3:c.C214G:p.Q72E,ME3:NM_006680:exon3:c.C214G:p.Q72E	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0064101620372	.	.	8.24e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs746132526	2.805e-05	2.805e-05	1.089e-05	4.538e-05	0.0004	2.087e-05	1.878e-05	0.0003	0.0003	0	0	0	0	0	0.0002	0	3.312e-05	0.0004	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.325	0.16412	T	1.0	0.02742	T	0.609	0.39586	P	0.325	0.41883	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.86	0.21358	L	0.42	0.56937	T	-0.86	0.33998	N	0.621	0.63713	-0.9982	0.30423	T	0.129	0.43706	T	9	0.24570104	0.41823	T	0.00641	0.16870	T	0.201	0.48592	0.329	0.31357	0.841177199884	0.83966	0.5732259609448505	0.57251	0.808738844197	0.66634	0.632923007011	0.57560	T	0.092663	0.39051	T	-0.197482	0.21168	T	-0.205289	0.54144	T	0.260725905450905	0.23346	T	0.963304	0.87589	D	0.34151047	0.56400	0.24894981	0.50456	0.34151047	0.56400	0.24894981	0.50455	-10.626	0.77568	D	.	.	0.178	0.38782	B	.;.;.;.;.	.;.;.;.;.	3.867160	0.56123	23.7	0.98468658759565908	0.41826	0.77403	0.38053	D	ALL	0.942204	0.94649	D	0.344597127463434	0.58455	4.01784	0.47233710561335	0.66163	4.916495	1.0	0.98316	0.730579	0.87903	0	0.59043	0.45803	0	0.550215	0.18615	0	0.648885	0.59868	0	.	.	5.1	5.1	0.68917	9.743000	0.98064	11.465000	0.92840	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.518	0.90892	829	0.39537	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1162.43	42	chr11	86559793	.	G	C	1162.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.85;DP=413;ExcessHet=0;FS=1.01;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.35;ReadPosRankSum=0.31;SOR=0.494	GT:AD:DP:GQ:PL	0/1:23,44:67:99:1174,0,548	9	0	1	0
chr11	94110942	94110942	C	T	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon18:c.C3085T:p.P1029S	.	428	1088	6	0	0	6	0.00274977	.	.	.	2840002	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.882	0.138820305924	.	.	0.0006	0	0.0001	0	0.0003	0.0008	0	0.0009	0.0004851	75	154602	rs201995404	0.0005	0.0005	0.0004	0.0005	0.0016	0.0004	0.0004	0.0008	0.0006	5.977e-05	0.0001	0.0002	0	0.0002	0.0016	0.0005	0.0006	0.0006	0.0004	0.0004	0.0004	0.0005	0.0008	0.0004	0.0003	0.0006	0.0006	7.25e-05	0	0.0001	0	0	0.0004	0	0.0008	0	0.0008	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999984	0.54805	D	2.72	0.79541	M	-8.65	0.99946	D	-7.19	0.94196	D	0.784	0.78072	0.915	0.95894	D	0.998	0.99947	D	10	0.7619735	0.76415	D	0.13882	0.82131	D	0.882	0.96539	.	.	0.84021819409	0.83868	0.8615189594231787	0.86115	0.284960885881	0.30907	0.650515675545	0.60059	T	0.764882	0.93660	D	0.248508	0.78461	D	0.503661	0.94716	D	0.506450653076172	0.32866	D	1.000	0.99895	D	0.7246431	0.79421	0.82221925	0.89681	0.7246431	0.79423	0.82221925	0.89681	-8.78	0.66270	D	.	.	0.831	0.78781	P	.	.	4.916401	0.80938	27.4	0.99911103323694272	0.98022	0.99185	0.92484	D	AEFDGBI	0.860757	0.77868	D	0.950015314780965	0.93986	12.419	0.910972367952244	0.96034	14.22896	0.999999999998802	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.97	5.97	0.96935	7.251000	0.77723	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:1.0:0.0:0.0	20.436	0.99091	712	0.56465	Multicopper oxidase, type 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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1340.43	35	chr11	94110942	.	C	T	1340.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.647;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.44;SOR=0.674	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1352,0,1497	9	0	1	0
chr11	95786216	95786216	C	T	exonic	FAM76B	.	nonsynonymous SNV	FAM76B:NM_001330357:exon4:c.G266A:p.R89H,FAM76B:NM_144664:exon4:c.G266A:p.R89H	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0184063697764	0.0017	0.000399361	0.0012	0.0004	0.0014	0	0.0014	0.0018	0.0011	0	0.0012031	186	154602	rs200608990	0.0018	0.0018	0.0018	0.0017	0.0021	0.0017	0.0017	0.0020	0.0020	0.0005	0.0010	0.0012	0.0002	0.0016	0	0.0021	0.0014	2.319e-05	0.0015	0.0015	0.0014	0.0016	0.0020	0.0013	0.0013	0.0017	0.0016	0.0005	0.0230	0.0012	0.0012	0	0.0025	0	0.0020	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	.	.	.	-4.71	0.79915	D	0.928	0.93252	0.113	0.84404	D	0.549	0.83451	D	9	0.058609843	0.06918	T	0.018406	0.40464	T	0.557	0.81774	.	.	0.760279501416	0.75809	0.6703553667773188	0.66973	1.04418234195	0.75899	0.896573245525	0.96050	D	0.345062	0.71349	T	0.151959	0.69451	D	0.439644	0.93311	D	0.0635901489118956	0.07721	T	0.969703	0.89491	D	0.7999959	0.83905	0.7218437	0.83574	0.7999959	0.83907	0.7218437	0.83575	-12.893	0.88917	D	.	.	0.970	0.89434	P	.;.	.;.	5.984437	0.94261	34	0.9994265991635074	0.99824	0.98688	0.85598	D	AEFDBI	0.918308	0.88719	D	0.947119074555468	0.93869	12.33482	0.926661326983008	0.96633	14.941	1.0	0.98316	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.96	5.96	0.96695	7.842000	0.85116	7.637000	0.63009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.401	0.98992	945	0.12563	.;.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2111.43	42	chr11	95786216	.	C	T	2111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=530;ExcessHet=0;FS=2.613;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-1.105;SOR=0.914	GT:AD:DP:GQ:PL	0/1:94,88:182:99:2123,0,2016	9	0	1	0
chr11	102611773	102611773	T	G	exonic	MMP20	.	nonsynonymous SNV	MMP20:NM_004771:exon3:c.A505C:p.I169L	Amelogenesis imperfecta, type IIA2, Autosomal recessive	0	1484	35	3	0	41	0.0136258	.	.	.	324470	Amelogenesis_imperfecta_hypomaturation_type_2A2|not_provided	MONDO:MONDO:0012926,MedGen:C2675858,OMIM:612529,Orphanet:88661|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0066	0.0273562	0.0132	0.0103	0.0032	0.0905	0	0.0028	0.0121	0.0291	0.0124966	1932	154602	rs17099008	0.0075	0.0075	0.0069	0.0081	0.0832	0.0073	0.0073	0.0808	0.0798	0.0120	0.0028	0.0002	0.0832	0.0001	0.0078	0.0036	0.0082	0.0288	0.0095	0.0095	0.0089	0.0100	0.0821	0.0091	0.0089	0.0756	0.0731	0.0124	0.0373	0.0046	0.0003	0.0821	0.0003	0.0068	0.0035	0.0080	0.0284	0.003	0.68238	D	0.051	0.47828	T	0.003	0.11197	B	0.424	0.45210	B	0.000848	0.41440	D	0.267929	0.998964	0.45775	D	1.965	0.53209	M	1.51	0.30937	T	-1.85	0.43334	N	0.145	0.14622	-1.0405	0.17162	T	0.010	0.03673	T	10	0.0022335649	0.00032	T	.	.	.	0.101	0.28911	0.739	0.87147	.	.	0.7443420672079913	0.74380	0.0959658060652	0.10830	0.469243943691	0.34576	T	0.09987	0.40511	T	-0.570989	0.00218	T	-0.521782	0.20114	T	0.0378741418454267	0.03310	T	0.882612	0.60317	D	0.6179698	0.73655	0.4395777	0.67305	0.74831414	0.80771	0.4293998	0.66623	-6.117	0.47248	T	0.2241891874147531	0.30273	0.317	0.54265	B	.	.	3.215316	0.43783	21.8	0.99052178842528649	0.51275	0.70799	0.34741	D	AEFGBCI	0.293574	0.40416	N	-0.228406973005845	0.31971	1.798246	-0.173602641907642	0.32511	1.850358	0.996210304616188	0.34598	0.559995	0.30671	0	0.624146	0.53433	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.35	1.82	0.24209	1.731000	0.37758	3.423000	0.38265	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.2124:0.0:0.7876	9.067	0.35630	809	0.43032	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic 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	0.008560	0.005051	0.005435	0.000000	0.000000	0.000000	0.015244	0.022727	0.05	857.43	34	chr11	102611773	.	T	G	857.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=374;ExcessHet=0;FS=3.367;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.245;SOR=0.356	GT:AD:DP:GQ:PL	0/1:32,35:67:99:869,0,727	9	0	1	0
chr11	113739299	113739299	C	T	exonic	ZW10	.	nonsynonymous SNV	ZW10:NM_004724:exon12:c.G1667A:p.G556E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.642	0.0580666640547	.	.	8.239e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs773919044	8.895e-06	8.893e-06	6.808e-06	1.1e-05	2.237e-05	4.96e-06	3.82e-06	5.31e-06	3.88e-06	0	2.237e-05	0	0	0	0	9.894e-06	1.656e-05	0	6.575e-06	6.568e-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	0.007	0.69154	D	0.992	0.64738	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.22	0.62911	M	0.77	0.49642	T	-6.01	0.89648	D	0.963	0.97317	-0.5783	0.65684	T	0.318	0.68709	T	10	0.9644962	0.95907	D	0.058067	0.67187	D	0.642	0.86384	0.889	0.97273	0.597317120074	0.59411	0.8338130151864489	0.83340	0.67672764986	0.59792	0.852499604225	0.89990	D	0.290818	0.66359	T	0.25108	0.78701	D	0.186529	0.82371	D	0.943235754966736	0.61820	D	0.947205	0.79675	D	0.93473005	0.94712	0.91661686	0.96159	0.93473005	0.94713	0.91661686	0.96159	-15.479	0.96874	D	.	.	0.954	0.87371	P	.	.	4.640523	0.73874	26.1	0.99785118829781849	0.87131	0.98796	0.86965	D	AEFDBI	0.904939	0.85584	D	0.771735502524725	0.84311	8.252533	0.741833091269514	0.85548	8.612834	0.999999999998476	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	7.568000	0.81546	7.613000	0.61989	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:1.0:0.0:0.0	19.813	0.96550	538	0.73119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	837.43	33	chr11	113739299	.	C	T	837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=416;ExcessHet=0;FS=1.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=-0.432;SOR=0.913	GT:AD:DP:GQ:PL	0/1:72,37:109:99:849,0,1830	9	0	1	0
chr11	118117386	118117386	G	T	exonic	TMPRSS4	.	nonsynonymous SNV	TMPRSS4:NM_001173552:exon11:c.G1114T:p.G372C,TMPRSS4:NM_001083947:exon12:c.G1219T:p.G407C,TMPRSS4:NM_001173551:exon12:c.G1228T:p.G410C,TMPRSS4:NM_001290094:exon12:c.G1159T:p.G387C,TMPRSS4:NM_001290096:exon12:c.G793T:p.G265C,TMPRSS4:NM_019894:exon12:c.G1234T:p.G412C	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.083272478285	.	0.000199681	0.0001	0	8.637e-05	0	0	0.0002	0	0.0002	6.5e-06	1	154602	rs190228222	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.987e-05	4.472e-05	3.826e-05	0	0	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	9.406e-05	0.0008	8.167e-05	6.723e-05	0.0003	0.0002	0	0	6.536e-05	0	0	0	0	0.0002	0	0.0008	0.04	0.44694	D	0.052	0.49390	T	0.985	0.73220	D	0.866	0.64423	P	0.534183	0.05275	N	1.278110	1	0.08975	N	1.24	0.30952	L	-2.46	0.88924	D	-3.36	0.69236	D	0.361	0.45992	-0.3330	0.74046	T	0.645	0.87622	D	10	0.19043824	0.34687	T	0.083272	0.74079	D	0.302	0.62290	.	.	0.693329335937	0.69069	0.7699028836353372	0.76939	0.543461005332	0.51422	0.269273340702	0.06046	T	0.32161	0.69269	T	-0.206842	0.19826	T	-0.228914	0.51878	T	0.110080569982529	0.13432	T	0.744825	0.36507	T	0.22098392	0.44666	0.16762085	0.38661	0.22098392	0.44666	0.16762085	0.38660	-4.198	0.28610	T	.	.	0.218	0.47654	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.832958	0.37356	20.5	0.98737567352764966	0.45452	0.05651	0.11564	N	AEFBI	0.152411	0.27709	N	-0.494196940401602	0.22269	1.187974	-0.672898364916662	0.17640	0.9388595	5.73794794813383E-4	0.07363	0.554377	0.28877	0	0.573078	0.20572	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.06	0.436	0.15762	0.211000	0.17268	0.445000	0.18464	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3181:0.1375:0.4202:0.1243	1.993	0.03240	378	0.83833	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	2359.43	101	chr11	118117386	.	G	T	2359.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.043;DP=1003;ExcessHet=0;FS=1.308;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.211;SOR=0.553	GT:AD:DP:GQ:PL	0/1:60,92:152:99:2371,0,1442	9	0	1	0
chr11	118647951	118647951	C	T	exonic	PHLDB1	.	nonsynonymous SNV	PHLDB1:NM_001144759:exon17:c.C3388T:p.R1130W,PHLDB1:NM_001144758:exon18:c.C3529T:p.R1177W,PHLDB1:NM_015157:exon19:c.C3529T:p.R1177W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0398644724163	0.0007	0.000199681	0.0009	0	0.0028	0	0	0.0014	0	0.0004	0.0003493	54	154602	rs148770039	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0005	0.0005	0	0.0002	0.0010	2.658e-05	0.0002	0.0005	0.0006	0.0005	0.0004	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0004	0.0004	0.0001	0	0.0001	0.0009	0	0	0	0.0006	0	0.0004	0.0	0.91255	D	0.002	0.79402	D	0.995	0.90584	D	0.884	0.74104	P	0.000065	0.52346	D	0.119151	0.887907	0.38146	D	2.395	0.69210	M	0.85	0.47130	T	-5.46	0.87063	D	0.479	0.52119	-0.6653	0.62041	T	0.219	0.58137	T	10	0.026146144	0.00788	T	0.039864	0.59054	D	0.206	0.49396	.	.	0.196089822672	0.19227	0.4010178116487693	0.40016	0.519949084408	0.49808	0.738123238087	0.72697	T	0.257883	0.62898	T	-0.302797	0.08398	T	-0.329992	0.41470	T	0.214027166366577	0.21161	T	0.988539	0.96067	D	0.6914993	0.77592	0.56058764	0.74577	0.6914993	0.77594	0.56058764	0.74577	-11.504	0.83647	D	.	.	0.245	0.54997	B	.;.;.;.	.;.;.;.	3.601221	0.50864	23.0	0.99896932309951414	0.96971	0.53405	0.29364	D	AEFBI	0.572152	0.57585	D	-0.0503114853990451	0.39587	2.337005	-0.188797638231183	0.31946	1.812792	0.00512461451207038	0.10836	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.05	-1.07	0.09459	-0.790000	0.04709	0.305000	0.17021	0.599000	0.40250	0.000000	0.06391	0.948000	0.28948	0.997000	0.79791	0.7823:0.2177:0.0:0.0	16.995	0.86239	315	0.87208	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002053	0.000000	0.001366	0.005882	0.000000	0.008772	0.000000	0.000000	0.05	689.43	36	chr11	118647951	.	C	T	689.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.534;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.742;SOR=0.693	GT:AD:DP:GQ:PL	0/1:26,26:52:99:701,0,735	9	0	1	0
chr11	120451539	120451539	C	T	exonic	ARHGEF12	.	nonsynonymous SNV	ARHGEF12:NM_001198665:exon21:c.C1814T:p.A605V,ARHGEF12:NM_001301084:exon22:c.C1562T:p.A521V,ARHGEF12:NM_015313:exon22:c.C1871T:p.A624V	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0138054211661	0.0002	0.00139776	0.0014	0.0002	0.0004	0	0	0.0002	0.0011	0.0086	0.0011902	184	154602	rs201274468	0.0007	0.0007	0.0004	0.0010	0.0086	0.0007	0.0006	0.0081	0.0079	8.961e-05	6.709e-05	0	0	1.872e-05	0.0005	0.0002	0.0009	0.0086	0.0004	0.0004	0.0003	0.0005	0.0085	0.0003	0.0003	0.0064	0.0057	0.0001	0	0	0	0	0	0	0.0002	0	0.0085	0.272	0.15930	T	0.651	0.15456	T	0.001	0.07471	B	0.001	0.04355	B	0.409676	0.04583	N	1.540210	0.999422	0.21681	N	0	0.06538	N	-0.2	0.66113	T	0.17	0.05125	N	0.073	0.07673	-1.0316	0.19937	T	0.111	0.39888	T	10	0.0042149425	0.00084	T	0.013805	0.33474	T	0.048	0.13305	.	.	0.318725805183	0.31479	0.16656245206819317	0.16576	0.533151611291	0.50754	0.346510648727	0.17407	T	0.024795	0.18667	T	-0.590381	0.00167	T	-0.61442	0.11628	T	0.0219358343950319	0.00901	T	0.79652	0.44234	T	0.016213274	0.00183	0.029784847	0.01355	0.016213274	0.00183	0.029784847	0.01355	-4.909	0.35836	T	.	.	0.081	0.08754	B	.;.;.	.;.;.	1.965970	0.24975	16.59	0.98595527475020373	0.43427	0.75589	0.37017	D	AEFBI	0.137643	0.25869	N	-0.636765583194839	0.17847	0.9218916	-0.48913636416502	0.22452	1.219547	0.80262754398883	0.24213	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	1.2	0.20181	0.962000	0.28877	1.803000	0.28899	0.549000	0.26987	0.961000	0.33663	0.877000	0.27660	0.989000	0.64315	0.3639:0.3732:0.0:0.2629	5.408	0.15630	894	0.26265	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	4178.43	35	chr11	120451539	.	C	T	4178.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.958;DP=618;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=1.17;QD=14.82;ReadPosRankSum=-0.433;SOR=0.76	GT:AD:DP:GQ:PL	0/1:120,162:282:99:4190,0,2866	9	0	1	0
chr11	125367939	125367939	A	C	exonic	PKNOX2	.	nonsynonymous SNV	PKNOX2:NM_001382329:exon3:c.A94C:p.I32L,PKNOX2:NM_001382330:exon3:c.A94C:p.I32L,PKNOX2:NM_001382337:exon3:c.A94C:p.I32L,PKNOX2:NM_001382338:exon3:c.A94C:p.I32L,PKNOX2:NM_001382325:exon4:c.A181C:p.I61L,PKNOX2:NM_001382327:exon4:c.A181C:p.I61L,PKNOX2:NM_001382332:exon4:c.A94C:p.I32L,PKNOX2:NM_001382335:exon4:c.A181C:p.I61L,PKNOX2:NM_001382336:exon4:c.A94C:p.I32L,PKNOX2:NM_001382323:exon5:c.A181C:p.I61L,PKNOX2:NM_001382326:exon5:c.A181C:p.I61L,PKNOX2:NM_001382331:exon5:c.A94C:p.I32L,PKNOX2:NM_001382333:exon5:c.A94C:p.I32L,PKNOX2:NM_001382334:exon5:c.A181C:p.I61L,PKNOX2:NM_001382339:exon5:c.A181C:p.I61L,PKNOX2:NM_001382341:exon5:c.A181C:p.I61L,PKNOX2:NM_001382324:exon6:c.A181C:p.I61L,PKNOX2:NM_001382328:exon6:c.A181C:p.I61L	.	411	1109	2	0	0	2	0.000900901	.	.	.	2284655	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.00593658084169	0.0002	0.000599042	0.0003	0	0.0002	0.0009	0	0.0001	0.0022	0.0012	0.0002717	42	154602	rs201213983	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	0.0001	0.0011	0.0008	0.0002	0	0	0.0004	0	0.0019	5.847e-05	0.0002	0.0009	0.0001	0.0001	9.001e-05	0.0002	0.0012	9.746e-05	8.26e-05	0.0005	0.0004	9.629e-05	0	0.0001	0	0.0002	0	0	0.0001	0	0.0012	0.904	0.16903	T	0.785	0.18286	T	0.0	0.02946	B	0.0	0.01387	B	0.000427	0.44522	D	0.193513	0.993964	0.81001	D	-1.735	0.00332	N	0.75	0.50192	T	0.12	0.12099	N	0.197	0.21710	-1.0300	0.20454	T	0.046	0.19599	T	10	0.009838104	0.00221	T	0.005937	0.15490	T	0.082	0.23913	.	.	0.357212565759	0.35331	0.125135820270153	0.12439	0.300224283399	0.32383	0.471903681755	0.34942	T	0.008627	0.07910	T	-0.483177	0.00709	T	-0.517268	0.20572	T	0.0265109460307045	0.01476	T	0.724128	0.33779	T	0.06952641	0.15238	0.08300574	0.18989	0.06952641	0.15238	0.08300574	0.18989	-2.626	0.06703	T	.	.	0.058	0.00658	B	.;.	.;.	1.381102	0.17928	13.45	0.91099125109790624	0.20352	0.70997	0.34825	D	AEFBI	0.357145	0.44828	N	-0.46722235497948	0.23160	1.241773	-0.172991726160788	0.32534	1.851885	0.999993482060888	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	2.618000	0.46058	3.516000	0.38871	0.756000	0.94297	0.999000	0.42656	0.997000	0.33255	0.996000	0.76049	1.0:0.0:0.0:0.0	14.576	0.67840	548	0.72362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	779.43	35	chr11	125367939	.	A	C	779.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.683;DP=381;ExcessHet=0;FS=0.927;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.288;SOR=0.501	GT:AD:DP:GQ:PL	0/1:35,33:68:99:791,0,838	9	0	1	0
chr11	125789425	125789425	C	A	exonic	PATE3	.	nonsynonymous SNV	PATE3:NM_001129883:exon2:c.C89A:p.T30K	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0018	.	0.0016	0.0005	0	0	0	0.0030	0.0105	0.0005	0.0004786	74	154602	rs1025165	0.0020	0.0019	0.0020	0.0020	0.0022	0.0019	0.0019	0.0021	0.0021	0.0003	0.0013	0.0066	2.798e-05	0.0003	0.0014	0.0022	0.0025	0.0004	0.0014	0.0014	0.0013	0.0014	0.0020	0.0012	0.0011	0.0016	0.0015	0.0005	0	0.0020	0.0063	0	0.0002	0	0.0018	0.0019	0.0002	0.143	0.25355	T	0.017	0.60337	D	0.815	0.45525	P	0.413	0.44885	B	.	.	.	.	1	0.08975	N	.	.	.	2.0	0.21473	T	-1.76	0.41618	N	0.386	0.42737	-1.0332	0.19427	T	0.039	0.16978	T	8	0.005534947	0.00122	T	.	.	.	0.063	0.18251	.	.	0.0138822411134	0.00435	0.5782459023667258	0.57753	.	.	0.32882463932	0.14757	T	0.027932	0.20347	T	-0.600508	0.00145	T	-0.639043	0.09738	T	0.0422714662416675	0.04105	T	0.392661	0.09777	T	0.065341525	0.13955	0.09317297	0.21994	0.065341525	0.13954	0.09317297	0.21993	-4.715	0.33585	T	.	.	0.36	0.57211	A	.	.	0.388653	0.07604	4.263	0.82566643154995101	0.14259	0.02329	0.06667	N	AEFI	0.029359	0.02755	N	-0.773703332468578	0.13998	0.6937829	-0.958579960447684	0.10725	0.5419908	1.79852864752148E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.98	-0.804	0.10333	-0.409000	0.07223	-0.184000	0.11104	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.4835:0.0:0.5165	7.049	0.24242	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1429.43	64	chr11	125789425	.	C	A	1429.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.385;DP=479;ExcessHet=0;FS=4.073;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.122;SOR=0.567	GT:AD:DP:GQ:PL	0/1:75,60:135:99:1441,0,1887	9	0	1	0
chr11	125951954	125951954	G	A	exonic	VSIG10L2	.	nonsynonymous SNV	VSIG10L2:NM_001365077:exon6:c.G1376A:p.S459N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08784044	0.15067	T	.	.	.	.	.	.	.	.	.	0.08319747060249075	0.08253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375962	0.08979	T	0.025755102	0.01550	0.06863302	0.14357	0.025755102	0.01550	0.06863302	0.14357	-4.718	0.33622	T	.	.	0.111	0.21691	B	.;.	.;.	-0.077322	0.03778	0.793	0.82676063120352972	0.14316	0.07089	0.13115	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999884037004788	0.44867	0.053691	0.00478	0	0.063388	0.01293	0	0.044551	0.00207	1	0.062806	0.01542	0	0.212334	0.31030	4.64	-4.61	0.03139	-0.348000	0.07789	0.865000	0.22263	0.676000	0.76740	0.000000	0.06391	0.002000	0.18203	0.189000	0.21571	0.2528:0.2397:0.2504:0.2571	0.211	0.00145	852	0.35056	Immunoglobulin-like domain;Immunoglobulin-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	.	.	.	.	.	.	.	.	0.1429	35.6	2	chr11	125951954	.	G	A	35.6	.	AC=2;AF=0.143;AN=14;DP=20;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=17.8;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	3
chr11	126267701	126267701	C	G	exonic	SRPRA	.	nonsynonymous SNV	SRPRA:NM_001177842:exon2:c.G129C:p.Q43H,SRPRA:NM_003139:exon3:c.G213C:p.Q71H	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0554000598591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.996	0.84481	D	0.000009	0.62929	D	0.113557	1	0.81001	D	.	.	.	.	.	.	-4.83	0.80943	D	0.895	0.89465	-0.5566	0.66534	T	0.341	0.70688	T	9	0.88804483	0.88138	D	0.055	0.66222	D	0.359	0.67962	0.826	0.93721	0.248133497653	0.24425	0.9319651819774726	0.93175	1.17131033113	0.79773	0.878252387047	0.93724	D	0.529664	0.83701	D	0.207965	0.74639	D	0.0609504	0.74308	D	0.986816585063934	0.77442	D	0.959404	0.84692	D	0.81731313	0.85039	0.49502134	0.70795	0.81731313	0.85041	0.49502134	0.70795	-9.462	0.70622	D	.	.	0.963	0.92555	P	.;.	.;.	3.617126	0.51171	23.1	0.97650591795001196	0.35137	0.88304	0.48171	D	AEFDGBHCI	0.515932	0.54268	D	-0.208986728233915	0.32765	1.851475	-0.382737499028826	0.25512	1.403422	0.999999746284059	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	4.24	0.115	0.13949	0.903000	0.28101	2.653000	0.33829	-0.266000	0.06809	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1437:0.5409:0.0:0.3154	4.479	0.11169	804	0.43891	Signal recognition particle receptor, alpha subunit, N-terminal;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	509.43	36	chr11	126267701	.	C	G	509.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.886;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.793;SOR=0.641	GT:AD:DP:GQ:PL	0/1:27,24:51:99:521,0,727	9	0	1	0
chr11	130188656	130188656	C	T	exonic	ST14	.	nonsynonymous SNV	ST14:NM_021978:exon3:c.C368T:p.A123V	Ichthyosis, congenital, autosomal recessive 11, Autosomal recessive	.	.	.	.	.	.	.	0.0136	0.164	.	3475059	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.00775508372525	.	.	4.124e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs776989571	1.915e-05	1.915e-05	1.225e-05	2.613e-05	0.0002	1.328e-05	1.144e-05	0.0001	0.0001	0	0	0	0	0	0	8.093e-06	0	0.0002	1.971e-05	1.97e-05	1.285e-05	2.689e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.1	0.25713	B	0.067	0.27542	B	0.067817	0.21715	N	0.234967	0.941304	0.81001	D	1.74	0.45129	L	1.17	0.37910	T	0.73	0.02068	N	0.307	0.34659	-1.1034	0.03704	T	0.053	0.22346	T	10	0.06505656	0.08720	T	0.007755	0.20563	T	0.085	0.24743	.	.	0.377493895363	0.37364	0.33160912637301	0.33073	0.435905703178	0.43696	0.349786221981	0.17890	T	0.097345	0.40007	T	-0.411526	0.01942	T	-0.524357	0.19854	T	0.185696497559547	0.19587	T	0.728627	0.34357	T	0.09703544	0.22865	0.08590457	0.19865	0.09703544	0.22865	0.08590457	0.19865	-3.718	0.19584	T	0.22198290532755727	0.29945	0.139	0.30344	B	.	.	3.914019	0.57101	23.8	0.54915530247236333	0.05234	0.65227	0.32667	D	AEFDBCI	0.451819	0.50564	N	-0.237833825618283	0.31591	1.772991	-0.0210485894655903	0.38766	2.288657	0.999896330291601	0.45129	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	5.54	4.62	0.56946	3.427000	0.52552	4.678000	0.44308	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.9212:0.0:0.0788	12.645	0.56089	707	0.57054	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	.	.	.	.	.	.	.	.	0.05	949.43	37	chr11	130188656	.	C	T	949.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.842;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-0.839;SOR=0.747	GT:AD:DP:GQ:PL	0/1:61,43:104:99:961,0,1402	9	0	1	0
chr12	566073	566073	C	T	exonic	NINJ2	.	nonsynonymous SNV	NINJ2:NM_001294345:exon2:c.G118A:p.A40T,NINJ2:NM_001294346:exon2:c.G31A:p.A11T,NINJ2:NM_016533:exon2:c.G139A:p.A47T,NINJ2:NM_001367996:exon3:c.G31A:p.A11T	.	415	1101	4	2	0	8	0.00361991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0322200083881	.	0.00159744	0.0007	0	0	0	0	7.509e-05	0	0.0047	0.0005951	92	154602	rs536237414	0.0003	0.0003	0.0002	0.0005	0.0045	0.0003	0.0003	0.0042	0.0040	0	0	0	7.557e-05	1.872e-05	0.0007	3.597e-05	0.0003	0.0045	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0	0	0	5.881e-05	0	0.0077	0.035	0.63226	D	0.012	0.64786	D	.	.	.	.	.	.	0.008142	0.30992	N	0.317552	0.997166	0.43677	D	.	.	.	0.7	0.51474	T	-3.3	0.67824	D	0.23	0.25867	-0.8550	0.51620	T	0.135	0.45010	T	10	0.00632143	0.00143	T	0.03222	0.54103	D	0.218	0.51265	.	.	0.67247961064	0.66970	0.6568067482916274	0.65616	0.24590413445	0.27115	0.396976739168	0.24648	T	0.219495	0.58251	T	-0.394666	0.02509	T	-0.339008	0.40457	T	0.107985896915773	0.13213	T	0.887511	0.61998	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.38569	B	.;.;.;.	.;.;.;.	3.911351	0.57044	23.8	0.99834712861672226	0.91628	0.78749	0.38900	D	AEFBI	0.271195	0.38710	N	-0.0374657803670209	0.40165	2.380609	-0.0331010458790965	0.38229	2.249395	0.999908251943474	0.45458	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.59522	0.37078	0	.	.	4.83	3.0	0.33773	2.613000	0.46015	0.331000	0.17284	0.549000	0.26987	0.987000	0.36337	0.020000	0.20764	0.994000	0.71098	0.0:0.8448:0.0:0.1552	10.743	0.45361	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1645.43	35	chr12	566073	.	C	T	1645.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=447;ExcessHet=0;FS=1.419;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.71;SOR=0.895	GT:AD:DP:GQ:PL	0/1:65,65:130:99:1657,0,1550	9	0	1	0
chr12	3673464	3673464	A	T	exonic	CRACR2A	.	nonsynonymous SNV	CRACR2A:NM_001144958:exon7:c.T653A:p.L218Q,CRACR2A:NM_032680:exon7:c.T653A:p.L218Q	.	428	1082	10	2	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.031340989727	0.0019	0.000599042	0.0018	9.61e-05	0.0020	0	0	0.0027	0.0022	0.0004	0.0016817	260	154602	rs144274217	0.0013	0.0013	0.0013	0.0013	0.0130	0.0013	0.0013	0.0106	0.0098	0.0004	0.0021	0.0310	0	1.872e-05	0.0130	0.0006	0.0032	0.0006	0.0016	0.0016	0.0015	0.0017	0.0029	0.0014	0.0014	0.0022	0.0020	0.0003	0	0.0029	0.0285	0	0	0.0340	0.0010	0.0028	0.0008	0.002	0.78490	D	0.0	0.92824	D	0.999	0.90584	D	0.987	0.77487	D	0.000001	0.62929	D	0.052067	0.779664	0.34251	D	3.07	0.87108	M	1.97	0.26588	T	-3.72	0.76980	D	0.84	0.83576	-0.6812	0.61316	T	0.151	0.47979	T	10	0.010391712	0.00231	T	0.031341	0.53444	D	0.324	0.64624	.	.	0.842805522677	0.84130	0.5434982360544246	0.54275	0.467350245832	0.46119	0.532252430916	0.43352	T	0.330346	0.70054	T	-0.227509	0.16981	T	-0.105125	0.62997	T	0.100992852795639	0.12466	T	0.928457	0.74652	D	0.7320854	0.79841	0.6412755	0.79040	0.7320854	0.79843	0.6412755	0.79041	-11.59	0.82796	D	.	.	0.372	0.57927	A	.;.	.;.	5.055976	0.84244	28.3	0.99109044399682489	0.52674	0.98326	0.81656	D	AEFDGBI	0.897588	0.83993	D	0.568687741954592	0.71225	5.618916	0.501084574439941	0.68063	5.168736	0.999652754657121	0.41424	0.732398	0.92422	0	0.724815	0.89359	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	4.55	4.55	0.55429	8.632000	0.90760	10.961000	0.84462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	1.0:0.0:0.0:0.0	11.865	0.51768	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	0.014099	0.025253	0.017663	0.023392	0.000000	0.017241	0.000000	0.003788	0.05	946.43	35	chr12	3673464	.	A	T	946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=397;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.65;SOR=0.793	GT:AD:DP:GQ:PL	0/1:43,36:79:99:958,0,1051	9	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	.	.	.	.	.	.	.	.	0.2222	1238.83	54	chr12	4591261	.	G	C	1238.83	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.278;DP=748;ExcessHet=4.5998;FS=280.048;InbreedingCoeff=-0.4825;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=1.18;SOR=10.841	GT:AD:DP:GQ:PL	0/1:33,24:62:99:313,0,520	5	0	4	1
chr12	6849373	6849373	G	A	exonic	CDCA3	.	nonsynonymous SNV	CDCA3:NM_001297602:exon5:c.C526T:p.L176F,CDCA3:NM_031299:exon5:c.C601T:p.L201F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0074109188078	7.7e-05	.	2.584e-05	0	0	0	0.0002	3.062e-05	0	0	1.94e-05	3	154602	rs142590132	5.642e-05	5.815e-05	7.113e-05	4.153e-05	0.0002	4.636e-05	4.261e-05	5.818e-05	5.385e-05	0	0	0	0	1.882e-05	0.0002	7.131e-05	1.666e-05	0	3.944e-05	4.597e-05	5.141e-05	2.691e-05	7.351e-05	1.716e-05	1.13e-05	2.847e-05	1.858e-05	2.415e-05	0	0	0	0	0	0	7.351e-05	0	0	0.127	0.27080	T	0.161	0.31326	T	0.987	0.61912	D	0.871	0.61869	P	0.003366	0.35041	N	0.244844	0.967443	0.81001	D	2.455	0.71248	M	.	.	.	-1.88	0.43906	N	0.396	0.48872	-0.6504	0.62697	T	0.261	0.63242	T	9	0.270786	0.44612	T	0.007411	0.19657	T	0.109	0.30843	.	.	0.357630699053	0.35373	0.3162373606347213	0.31536	0.746265164616	0.63538	0.460998803377	0.33447	T	0.058302	0.30805	T	-0.00233416	0.51332	T	-0.171291	0.57324	T	0.82810652256012	0.48384	D	0.713829	0.33984	T	0.10994616	0.25992	0.11020066	0.26570	0.10994616	0.25992	0.11020066	0.26569	-4.879	0.35498	T	.	.	0.453	0.62917	A	.;.;.	.;.;.	4.631608	0.73641	26.0	0.99855734775487026	0.93458	0.78649	0.38835	D	AEFDBCI	0.448986	0.50399	N	0.478464808803987	0.65833	4.872613	0.456200439219941	0.65115	4.783263	0.999973521840527	0.50053	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.08	4.19	0.48645	3.858000	0.55690	8.624000	0.77824	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.1682:0.0:0.8318:0.0	9.427	0.37751	560	0.71333	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2548.43	42	chr12	6849373	.	G	A	2548.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=532;ExcessHet=0;FS=1.73;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.677;SOR=0.559	GT:AD:DP:GQ:PL	0/1:111,97:208:99:2560,0,2938	9	0	1	0
chr12	7097014	7097014	-	A	exonic	C1RL	.	frameshift insertion	C1RL:NM_001297640:exon5:c.714dupT:p.A239Cfs*30,C1RL:NM_001297642:exon6:c.887dupT:p.L297Afs*208,C1RL:NM_016546:exon6:c.840dupT:p.A281Cfs*30	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.257e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs748303307	6.841e-06	6.84e-06	1.089e-05	2.75e-06	0.0002	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.093e-06	0	0	6.571e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2354.39	39	chr12	7097014	.	C	CA	2354.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.559;DP=507;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.858;SOR=0.647	GT:AD:DP:GQ:PL	0/1:78,76:154:99:2366,0,2429	9	0	1	0
chr12	7814398	7814398	T	C	exonic	SLC2A14	.	nonsynonymous SNV	SLC2A14:NM_001286236:exon10:c.A1154G:p.H385R,SLC2A14:NM_001286237:exon10:c.A1526G:p.H509R,SLC2A14:NM_001286234:exon11:c.A1412G:p.H471R,SLC2A14:NM_153449:exon12:c.A1481G:p.H494R,SLC2A14:NM_001286235:exon13:c.A1412G:p.H471R,SLC2A14:NM_001286233:exon16:c.A1481G:p.H494R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0100856411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.06164	T	0.553	0.09760	T	0.0	0.02946	B	0.0	0.01387	B	0.026169	0.01644	N	2.494860	1	0.08975	N	0	0.06538	N	-1.55	0.83578	D	-0.48	0.15986	N	0.042	0.02179	-0.8595	0.51298	T	0.268	0.63971	T	10	0.06708786	0.09297	T	0.010086	0.26213	T	0.077	0.22490	0.319	0.29741	0.202312658747	0.19855	0.07857841776487683	0.07792	1.16999158292	0.79730	0.388437628746	0.23449	T	0.005013	0.04439	T	-0.208721	0.19558	T	-0.53759	0.18533	T	0.0435560609636722	0.04339	T	0.0860914	0.00768	T	0.04276032	0.06543	0.033469383	0.02247	0.04276032	0.06543	0.033469383	0.02247	-1.329	0.01530	T	.	.	0.055	0.00405	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-0.461996	0.01991	0.175	0.63114570802014691	0.07138	0.03655	0.08911	N	AEFDBI	0.091977	0.18625	N	-1.27061638253395	0.04034	0.1813253	-1.30483756309973	0.04367	0.2058388	1.3302885362267E-5	0.02871	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.616125	0.45549	0	.	.	2.92	0.253	0.14809	-0.404000	0.07267	-0.323000	0.09949	0.341000	0.19778	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.228:0.0:0.2349:0.5371	3.388	0.06854	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	.	.	.	.	.	.	.	.	0.05	661.43	77	chr12	7814398	.	T	C	661.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.193;DP=560;ExcessHet=0;FS=3.978;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=43.63;MQRankSum=1.07;QD=9.59;ReadPosRankSum=-2.261;SOR=0.323	GT:AD:DP:GQ:PL	0/1:41,28:69:99:673,0,1165	9	0	1	0
chr12	7921495	7921495	T	C	exonic	SLC2A3	.	nonsynonymous SNV	SLC2A3:NM_006931:exon10:c.A1409G:p.H470R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0102898342588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.06204	T	0.555	0.09267	T	0.0	0.02946	B	0.0	0.01387	B	0.026169	0.01644	N	2.494860	1	0.08975	N	0	0.06538	N	-1.63	0.82440	D	-0.38	0.13418	N	0.032	0.00825	-0.8139	0.54312	T	0.252	0.62189	T	10	0.056134492	0.06246	T	0.01029	0.26654	T	0.105	0.29889	0.319	0.29741	0.364535869594	0.36064	0.19283129246143552	0.19201	0.956021407312	0.72823	0.304946601391	0.11144	T	0.069218	0.33653	T	-0.202211	0.20486	T	-0.528239	0.19463	T	0.0452185911149184	0.04643	T	0.0912909	0.00675	T	0.13377987	0.31105	0.09623372	0.22857	0.13377987	0.31105	0.09623372	0.22857	-1.285	0.01377	T	.	.	0.051	0.00191	B	.	.	-0.600511	0.01570	0.104	0.73098621743762038	0.10206	0.11740	0.16831	N	AEFDGBHCI	0.055956	0.10305	N	-1.33322431735497	0.03302	0.1472643	-1.35651975377665	0.03729	0.1745705	0.949699655601946	0.27859	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.3	-3.4	0.04549	-0.539000	0.06202	-0.143000	0.11497	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.1136:0.5364:0.3501	5.915	0.18289	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	87.43	40	chr12	7921495	.	T	C	87.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.872;DP=546;ExcessHet=0;FS=11.754;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.57;MQRankSum=-8.924;QD=0.55;ReadPosRankSum=-2.36;SOR=1.554	GT:AD:DP:GQ:PL	0/1:137,22:159:99:99,0,3518	9	0	1	0
chr12	10172034	10172034	G	A	exonic	OLR1	.	nonsynonymous SNV	OLR1:NM_001172632:exon1:c.C44T:p.P15L,OLR1:NM_001172633:exon1:c.C44T:p.P15L,OLR1:NM_002543:exon1:c.C44T:p.P15L	.	.	.	.	.	.	.	.	.	.	.	2258939	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00500827571714	.	.	5.778e-05	9.632e-05	0	0	0	9.008e-05	0	0	5.17e-05	8	154602	rs751951658	6.158e-05	6.156e-05	5.446e-05	6.877e-05	0.0005	5.096e-05	4.716e-05	0.0001	7.546e-05	2.988e-05	2.236e-05	0	0	0	0.0005	6.746e-05	0.0002	0	7.231e-05	7.225e-05	6.426e-05	8.075e-05	0.0001	3.973e-05	3.129e-05	5.842e-05	4.239e-05	2.414e-05	0	0.0001	0	0	0	0	0.0001	0	0	0.165	0.28646	T	0.262	0.29056	T	0.009	0.15093	B	0.005	0.11217	B	0.229712	0.15948	N	0.570173	0.85765	0.35331	D	1.79	0.46772	L	5.04	0.04746	T	-3.43	0.95366	D	0.06	0.15749	-0.9691	0.37386	T	0.011	0.04369	T	10	0.05858639	0.06910	T	0.005008	0.12660	T	0.035	0.08770	.	.	0.32580497728	0.32196	0.06424406536581252	0.06363	0.124429324764	0.14008	0.295825242996	0.09780	T	0.393024	0.75254	T	-0.47868	0.00753	T	-0.688698	0.06464	T	0.0592162497341633	0.07044	T	0.760924	0.38541	T	0.066117555	0.14195	0.101224735	0.24226	0.066117555	0.14195	0.101224735	0.24225	-3.801	0.21839	T	.	.	0.080	0.22208	B	.;.;.;.	.;.;.;.	1.871150	0.23769	16.14	0.99348493637508273	0.60493	0.19994	0.20874	N	AEFDGBHCI	0.081923	0.16582	N	-0.687722583500404	0.16371	0.8334583	-0.667632381305258	0.17772	0.946489	0.999899835283221	0.45129	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.09	1.06	0.19341	1.009000	0.29487	4.429000	0.43344	0.618000	0.50648	0.164000	0.23853	1.000000	0.68203	0.940000	0.48062	0.3363:0.0:0.6637:0.0	6.225	0.19913	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	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1155.43	34	chr12	10172034	.	G	A	1155.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.375;DP=413;ExcessHet=0;FS=0.742;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.972;SOR=0.816	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1167,0,1245	9	0	1	0
chr12	18346677	18346677	C	T	exonic	PIK3C2G	.	nonsynonymous SNV	PIK3C2G:NM_001288772:exon11:c.C1466T:p.S489F,PIK3C2G:NM_001288774:exon11:c.C800T:p.S267F,PIK3C2G:NM_004570:exon11:c.C1466T:p.S489F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.0477704245826	.	0.000798722	0.0006	0	8.687e-05	0	0	4.513e-05	0.0011	0.0041	0.0004916	76	154602	rs573282420	0.0004	0.0004	0.0003	0.0005	0.0050	0.0004	0.0004	0.0046	0.0045	8.972e-05	2.238e-05	0	2.52e-05	0	0.0007	9.449e-05	0.0005	0.0050	0.0002	0.0002	0.0002	0.0003	0.0044	0.0002	0.0001	0.0029	0.0024	2.406e-05	0	0.0002	0	0	0	0	8.823e-05	0.0005	0.0044	0.001	0.78490	D	0.003	0.79402	D	0.984	0.60733	D	0.794	0.57880	P	0.839060	0.09048	N	0.914393	0.995026	0.23389	N	2.635	0.77114	M	1.37	0.61798	T	-3.33	0.66206	D	0.74	0.74007	-0.6540	0.62539	T	0.357	0.71975	T	10	0.0188331	0.00414	T	0.04777	0.63070	D	0.269	0.58381	0.529	0.63560	0.763199611837	0.76104	0.6579579241465532	0.65732	0.0719583658917	0.08067	0.423232913017	0.28281	T	0.149752	0.68802	T	-0.312144	0.07561	T	-0.22102	0.52639	T	0.122827725374073	0.14704	T	0.853715	0.59112	D	0.2671747	0.49789	0.32160664	0.58107	0.2671747	0.49788	0.32160664	0.58106	-5.805	0.44618	T	.	.	0.445	0.61978	A	.;.;.;.	.;.;.;.	3.248018	0.44367	21.9	0.99807912996199022	0.89174	0.81738	0.41082	D	AEFI	0.526914	0.54907	D	0.286629229915266	0.55468	3.711056	0.177200091899726	0.48600	3.073796	0.0537141419193694	0.14948	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.98	3.98	0.45383	4.462000	0.59857	4.209000	0.42519	0.599000	0.40250	0.770000	0.29357	0.984000	0.30665	0.551000	0.30197	0.0:1.0:0.0:0.0	14.417	0.66727	932	0.16191	.;.;Phosphatidylinositol 3-kinase, C2 domain;Phosphatidylinositol 3-kinase, C2 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	0.003021	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.015152	0.05	1378.43	35	chr12	18346677	.	C	T	1378.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.069;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.616;SOR=0.653	GT:AD:DP:GQ:PL	0/1:98,59:157:99:1390,0,2611	9	0	1	0
chr12	30726042	30726042	G	C	exonic	CAPRIN2	.	nonsynonymous SNV	CAPRIN2:NM_001385538:exon7:c.C761G:p.P254R,CAPRIN2:NM_001385543:exon7:c.C761G:p.P254R,CAPRIN2:NM_001319842:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385528:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385531:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385537:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385541:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385544:exon8:c.C761G:p.P254R,CAPRIN2:NM_001385546:exon8:c.C761G:p.P254R,CAPRIN2:NM_001385547:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385548:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385550:exon8:c.C830G:p.P277R,CAPRIN2:NM_001002259:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001206856:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001319843:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385498:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385499:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385500:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385516:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385518:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385529:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385532:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385533:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385534:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385539:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385540:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385542:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385545:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385549:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385551:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385552:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385553:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385554:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385557:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385559:exon9:c.C830G:p.P277R,CAPRIN2:NM_023925:exon9:c.C1829G:p.P610R,CAPRIN2:NM_032156:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001319844:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001319845:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001319846:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385501:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385502:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385503:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385504:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385505:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385506:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385507:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385508:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385509:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385510:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385511:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385512:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385513:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385514:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385515:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385519:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385520:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385521:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385522:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385523:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385524:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385525:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385526:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385527:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385535:exon10:c.C1586G:p.P529R	.	436	1007	74	5	0	84	0.0400381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	0.0062	0.0111821	0.0092	0.0008	0.0064	0	0.0041	0.0086	0.0188	0.0251	0.0086092	1331	154602	rs73079976	0.0075	0.0076	0.0068	0.0082	0.0250	0.0074	0.0073	0.0228	0.0225	0.0009	0.0059	0.0069	2.561e-05	0.0043	0.0250	0.0068	0.0083	0.0237	0.0062	0.0062	0.0061	0.0064	0.0255	0.0059	0.0058	0.0218	0.0204	0.0012	0	0.0109	0.0101	0.0002	0.0027	0.0340	0.0075	0.0142	0.0255	0.007	0.72154	D	0.012	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000820	0.41658	D	0.244148	0.870816	0.39633	D	2.175	0.60977	M	1.72	0.80301	T	-4.19	0.76822	D	0.718	0.76481	0.305	0.87642	D	0.569	0.84399	D	10	0.0067775548	0.00154	T	.	.	.	0.205	0.49236	.	.	0.648614416266	0.64569	0.5195242696993202	0.51875	0.359186557532	0.37614	0.546116471291	0.45309	T	0.181502	0.53319	T	-0.0767919	0.40235	T	0.135171	0.79231	D	0.0256440277215045	0.01358	T	0.950705	0.86917	D	.	.	.	.	.	.	.	.	-13.034	0.89503	D	.	.	0.856	0.83681	P	.;.;.;.;.	.;.;.;.;.	4.065732	0.60367	24.2	0.99821863177600145	0.90502	0.62678	0.31854	D	ALL	0.618364	0.60420	D	0.593248100385037	0.72752	5.855505	0.574672674676995	0.73129	5.920273	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.62	4.72	0.59248	3.892000	0.55947	7.436000	0.58833	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.864:0.136	15.950	0.79616	917	0.20147	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	466.43	36	chr12	30726042	.	G	C	466.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.038;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=1.27;SOR=0.598	GT:AD:DP:GQ:PL	0/1:38,24:62:99:478,0,911	9	0	1	0
chr12	31087937	31087937	G	C	splicing	DDX11	NM_152438:exon6:c.639-1G>C;NM_030653:exon6:c.639-1G>C;NM_001257144:exon6:c.639-1G>C;NM_001257145:exon6:c.561-1G>C;NM_004399:exon6:c.639-1G>C	.	.	Warsaw breakage syndrome, Autosomal recessive	2	1519	1	0	0	1	0.000329056	0.9998	0.788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.774e-05	0.0001	0	0	0	1.635e-05	0	7.121e-05	3.84e-05	1	26028	rs757533407	3.638e-05	3.694e-05	3.412e-05	3.865e-05	0.0001	2.837e-05	2.573e-05	3.36e-05	2.391e-05	2.995e-05	0	0	0.0001	0	0	3.603e-05	3.318e-05	7.049e-05	5.259e-05	5.253e-05	3.855e-05	6.729e-05	0.0002	2.558e-05	1.831e-05	3.251e-05	1.916e-05	9.657e-05	0	0	0	0.0002	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.825704	0.28825	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461053	0.92972	D	0.63	0.97656	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	6.256819	0.94891	34	0.94510436291454913	0.24992	0.89439	0.49904	D	AEFBI	.	.	.	0.528312152357673	0.68770	5.263276	0.187832813805461	0.49178	3.124295	3.55579399123242E-4	0.06668	0.256867	0.04430	0	0.271743	0.05004	0	0.17184	0.04098	0	0.117559	0.03655	0	0.093092	0.20959	2.79	1.89	0.24700	4.013000	0.56850	9.021000	0.78571	0.558000	0.28311	0.980000	0.35271	1.000000	0.68203	0.161000	0.20682	0.1558:0.0:0.8442:0.0	5.591	0.16581	976	0.04745	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1026.43	68	chr12	31087937	.	G	C	1026.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.227;DP=656;ExcessHet=0;FS=5.612;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.32;MQRankSum=-1.035;QD=12.37;ReadPosRankSum=1.35;SOR=0.754	GT:AD:DP:GQ:PL	0/1:40,43:83:99:1038,0,1492	9	0	1	0
chr12	32850772	32850772	T	C	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon5:c.A1372G:p.I458V,PKP2:NM_004572:exon5:c.A1372G:p.I458V	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	2	1502	18	0	0	18	0.00595632	.	.	YES	54188	Primary_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_dysplasia_9|Cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided|PKP2-related_disorder	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:0012180,MedGen:C1836906,OMIM:609040|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.238	0.131746136054	.	0.00159744	0.0013	0	8.654e-05	0	0	6.005e-05	0.0022	0.0091	0.0010737	166	154602	rs199571473	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	8.977e-05	2.236e-05	0	2.519e-05	0	0.0031	2.609e-05	0.0006	0.0095	0.0004	0.0004	0.0003	0.0005	0.0095	0.0003	0.0003	0.0073	0.0066	2.407e-05	0	0	0	0	0	0.0034	0.0001	0	0.0095	0.329	0.13175	T	0.105	0.39190	T	0.783	0.54666	P	0.588	0.54017	P	0.004144	0.34057	N	0.315671	0.95626	0.37965	D	0.73	0.18813	N	-0.36	0.68754	T	-0.57	0.19297	N	0.359	0.40063	-0.8034	0.54944	T	0.193	0.54667	T	10	0.009797215	0.00220	T	0.131746	0.81402	D	0.238	0.54217	.	.	0.561255953167	0.55787	0.12082017086383469	0.12009	0.528918376042	0.50453	0.590106010437	0.51509	T	0.141046	0.47591	T	-0.366006	0.03801	T	-0.292545	0.45508	T	0.0578029969033374	0.06818	T	0.766723	0.39447	T	0.10640072	0.25160	0.06553663	0.13298	0.10064365	0.23766	0.092574775	0.21824	-3.903	0.22348	T	0.2217153081542665	0.29907	0.138	0.58617	B	.;.	.;.	3.147412	0.42591	21.6	0.99848325046109443	0.92750	0.86419	0.45695	D	AEFDBI	0.532488	0.55233	D	0.054228577332818	0.44337	2.709635	0.133071421694827	0.46251	2.87414	0.0284775564298479	0.13834	0.553676	0.25195	0	0.573888	0.26702	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	4.7	4.7	0.58776	3.398000	0.52325	4.908000	0.45924	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1612:0.8388	10.608	0.44594	666	0.61362	.;.	.	.	.	.	.	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	0.005482	0.000000	0.000000	0.020548	0.000000	0.008621	0.000000	0.011811	0.05	1556.43	44	chr12	32850772	.	T	C	1556.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.026;DP=453;ExcessHet=0;FS=6.849;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.253;SOR=1.27	GT:AD:DP:GQ:PL	0/1:60,63:123:99:1568,0,1481	9	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	.	.	.	.	.	.	.	.	0.35	1393.03	83	chr12	39764776	.	G	C	1393.03	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.279;DP=513;ExcessHet=10.3881;FS=336.368;InbreedingCoeff=-0.6794;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=3.51;ReadPosRankSum=1.11;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,22:56:99:.:.:121,0,485:.	3	0	7	0
chr12	40436636	40436636	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.806	0.0341914588969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1224.43	34	chr12	40436636	.	G	T	1224.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.824;DP=440;ExcessHet=0;FS=3.554;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.418;SOR=1.085	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1236,0,1374	9	0	1	0
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	7725.97	1277	chr12	40482890	.	T	*	7725.97	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.523;DP=11121;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.6667;MLEAC=4;MLEAF=0.333;MQ=58.41;MQRankSum=-21.94;QD=1.15;ReadPosRankSum=2.7;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:478,871:1349:99:.:.:32026,0,16813:.	3	0	3	4
chr12	40487422	40487422	-	CC	exonic	MUC19	.	unknown	UNKNOWN	.	529	936	57	0	0	57	0.029549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289899653	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0042	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0	0.0003	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	729.39	901	chr12	40487422	.	A	ACC	729.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.477;DP=9735;ExcessHet=0;FS=9.74;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.85;MQRankSum=-27.61;QD=0.78;ReadPosRankSum=1.55;SOR=1.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:856,79:935:99:0|1:40487405_G_C:741,0,35543:40487405	9	0	1	0
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	31329.3	901	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	31329.3	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.48;DP=10334;ExcessHet=15.1594;FS=3.513;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=56.49;MQRankSum=-24.25;QD=5.99;ReadPosRankSum=4.67;SOR=1.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:858,99:957:99:0|1:40487405_G_C:1574,0,35643:40487405	2	0	8	0
chr12	40487442	40487442	-	GCT	exonic	MUC19	.	unknown	UNKNOWN	.	529	895	98	0	0	98	0.0519068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210301375	1.2e-06	8.209e-06	2.23e-06	0	0.0009	0	0	.	.	0	0.0009	0	0	0	0	0	0	0	0.0006	0.0058	0.0005	0.0008	0.0009	0.0005	0.0005	0.0005	0.0005	0.0004	0	0.0009	0	0.0006	0.0011	0	0.0007	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1779.1	901	chr12	40487442	.	G	GGCT	1779.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.419;DP=9879;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.6;MQRankSum=-26.6;QD=0.96;ReadPosRankSum=1.37;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:836,91:927:99:0|1:40487405_G_C:1222,0,34257:40487405	8	0	2	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	30359.1	877	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	30359.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.166;DP=10267;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=6;MLEAF=0.3;MQ=56.51;MQRankSum=-21.55;QD=5.08;ReadPosRankSum=-1.513;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:828,90:918:99:0|1:40487405_G_C:1203,0,33926:40487405	4	0	6	0
chr12	45923022	45923022	T	C	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon13:c.A4039G:p.K1347E	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0140460157348	0.0005	0.000399361	0.0006	0.0007	0.0002	0	0.0002	0.0008	0	0.0003	0.0005886	91	154602	rs146172345	0.0011	0.0011	0.0011	0.0011	0.0013	0.0010	0.0010	0.0013	0.0012	8.961e-05	0.0003	3.826e-05	2.519e-05	1.872e-05	0.0003	0.0013	0.0012	0.0003	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0010	0.0009	0.0003	0	0.0002	0	0	0	0	0.0012	0.0005	0.0002	0.085	0.34982	T	0.183	0.29153	T	0.717	0.42239	P	0.18	0.35854	B	0.002173	0.37095	N	0.236663	0.732442	0.33733	D	1.845	0.48678	L	0.66	0.52416	T	-0.02	0.08653	N	0.202	0.27673	-0.9022	0.47760	T	0.096	0.36238	T	10	0.019759417	0.00446	T	0.014046	0.33902	T	0.078	0.22779	.	.	0.102598925029	0.09809	0.28772282256740944	0.28685	0.0884800177472	0.10002	0.354233920574	0.18543	T	0.086423	0.37720	T	-0.411205	0.01951	T	-0.419792	0.31100	T	0.0170265194643678	0.00451	T	0.871813	0.57812	D	0.07265105	0.16177	0.09037593	0.21189	0.07265105	0.16177	0.09037593	0.21189	-5.414	0.41054	T	.	.	0.142	0.31228	B	.;.;.	.;.;.	3.804134	0.54833	23.5	0.9958651360441354	0.73336	0.92382	0.55582	D	AEFGBI	0.451551	0.50548	N	0.123390694922054	0.47556	2.979629	0.235867578019921	0.51848	3.364023	0.680072360629302	0.22469	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.02	0.66742	3.674000	0.54333	6.696000	0.56356	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1475:0.8525	12.191	0.53582	849	0.35778	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1253.43	35	chr12	45923022	.	T	C	1253.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.38;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.822;SOR=0.653	GT:AD:DP:GQ:PL	0/1:47,53:100:99:1265,0,1086	9	0	1	0
chr12	47795970	47795970	G	A	exonic	HDAC7	.	nonsynonymous SNV	HDAC7:NM_001308090:exon8:c.C791T:p.P264L,HDAC7:NM_001368046:exon9:c.C884T:p.P295L,HDAC7:NM_015401:exon9:c.C842T:p.P281L	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	.	0.00339457	0.0059	0	0	0	0	0	0	0.0112	0.0008085	125	154602	rs566486430	0.0006	0.0006	0.0003	0.0009	0.0100	0.0006	0.0006	0.0095	0.0092	3.161e-05	2.797e-05	0	0.0002	0	0.0002	1.112e-05	0.0008	0.0100	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	2.407e-05	0	0	0	0	0	0	1.471e-05	0.0009	0.0114	0.164	0.24564	T	0.437	0.13872	T	0.048	0.33710	B	0.009	0.23121	B	0.688423	0.06131	N	1.147010	0.670117	0.81001	D	0.47	0.13106	N	0.61	0.53731	T	-0.99	0.29933	N	0.444	0.51315	-0.9950	0.31299	T	0.063	0.26101	T	10	0.007281482	0.00166	T	.	.	.	0.075	0.21907	.	.	0.378526890672	0.37469	0.2780134307797438	0.27714	0.946704540343	0.72437	0.611856937408	0.54579	T	0.151197	0.49102	T	-0.450608	0.01120	T	-0.410648	0.32150	T	0.0517027588641298	0.05796	T	0.833717	0.51273	T	0.03181217	0.03091	0.030325234	0.01475	0.03181217	0.03090	0.030325234	0.01475	-3.284	0.18364	T	.	.	0.110	0.30791	B	.;.;.;.	.;.;.;.	3.404764	0.47205	22.4	0.97072488000075352	0.32243	0.80662	0.40242	D	AEFGBI	0.248457	0.36886	N	-0.56610178279728	0.19982	1.050008	-0.407223476273194	0.24785	1.359189	0.998468056854402	0.37014	0.732398	0.92422	0	0.643519	0.57511	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	3.97	2.07	0.26004	2.994000	0.49121	8.486000	0.77314	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1038:0.1809:0.5293:0.186	2.804	0.05090	888	0.27761	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001615	0.000000	0.001453	0.000000	0.000000	0.000000	0.000000	0.008065	0.05	1247.43	33	chr12	47795970	.	G	A	1247.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.11;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=0.729;SOR=0.75	GT:AD:DP:GQ:PL	0/1:36,43:79:99:1259,0,901	9	0	1	0
chr12	49040626	49040626	G	A	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon32:c.C7144T:p.P2382S	Kabuki syndrome 1, Autosomal dominant	1	1515	5	1	0	7	0.00230491	.	.	.	100147	not_specified|Kabuki_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.451	.	0.0037	0.0259585	0.0121	0.0016	0.0006	0.0812	0.0132	0.0052	0.0080	0.0175	0.0117463	1816	154602	rs3741626	0.0095	0.0095	0.0094	0.0095	0.0791	0.0093	0.0093	0.0768	0.0758	0.0011	0.0009	0.0030	0.0791	0.0122	0.0007	0.0069	0.0136	0.0163	0.0080	0.0080	0.0070	0.0090	0.0847	0.0076	0.0075	0.0782	0.0756	0.0011	0	0.0013	0.0035	0.0847	0.0121	0	0.0064	0.0085	0.0247	0.003	0.68238	D	.	.	.	0.835	0.46254	P	0.291	0.40706	B	0.002281	0.36846	N	0.000000	0.99726	0.43752	D	0.55	0.14455	N	-2.21	0.86963	D	-3.85	0.72353	D	0.537	0.56489	-0.4536	0.70281	T	0.080	0.31765	T	10	0.0025892258	0.00039	T	.	.	.	0.451	0.75143	.	.	.	.	0.15121423479883672	0.15043	0.647694144754	0.58144	0.640919685364	0.58695	T	0.235589	0.60288	T	-0.352605	0.04565	T	-0.209851	0.53710	T	0.050093358919277	0.05516	T	0.847115	0.52772	T	0.27476606	0.50542	0.35242093	0.60820	0.27476606	0.50542	0.35242093	0.60819	-6.892	0.53240	T	.	.	0.184	0.39865	B	.	.	3.398589	0.47086	22.4	0.9076651582377856	0.20016	0.97777	0.77057	D	AEFDBCI	0.855480	0.77260	D	0.48273183170353	0.66082	4.904329	0.528124942371798	0.69889	5.425394	0.999951441315682	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	6.613000	0.74063	8.606000	0.77748	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	17.912	0.88853	383	0.83590	.	.	.	.	.	.	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	0.002018	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.015267	0.05	3678.43	33	chr12	49040626	.	G	A	3678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.52;DP=636;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=1.19;SOR=0.68	GT:AD:DP:GQ:PL	0/1:112,139:251:99:3690,0,2991	9	0	1	0
chr12	49043419	49043419	C	A	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon25:c.G5477T:p.G1826V	Kabuki syndrome 1, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	138418	not_specified|not_provided|Kabuki_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.379	.	.	0.00319489	0.0011	0	0	0	0	0	0.0011	0.0079	0.0009832	152	154602	rs574989512	0.0004	0.0004	0.0003	0.0006	0.0072	0.0004	0.0004	0.0068	0.0066	2.987e-05	0	0	0	0	0.0002	1.799e-06	0.0003	0.0072	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	7.221e-05	0	0	0	0	0	0	0	0	0.0114	0.018	0.50676	D	.	.	.	0.878	0.48285	P	0.276	0.40142	B	0.001985	0.37503	N	0.000000	0.999573	0.47641	D	1.1	0.28011	L	-1.25	0.79072	T	-0.81	0.22294	N	0.508	0.53972	-0.4525	0.70318	T	0.284	0.65547	T	10	0.0063448846	0.00143	T	.	.	.	0.379	0.69696	.	.	0.408804729114	0.40494	0.11605427748573852	0.11533	0.808941171003	0.66648	0.388146966696	0.23409	T	0.040638	0.25592	T	-0.290712	0.09565	T	-0.185518	0.56010	T	0.0393218724258198	0.03568	T	0.783822	0.42110	T	0.21467668	0.43880	0.16593054	0.38361	0.21467668	0.43880	0.16593054	0.38360	-4.183	0.26505	T	.	.	0.076	0.05935	B	.	.	4.193853	0.63231	24.6	0.94033623616603645	0.24149	0.41429	0.26655	N	AEFGBCI	0.162398	0.28856	N	-0.033678975006049	0.40334	2.393556	-0.00347880036737395	0.39559	2.347311	0.99187671659277	0.32639	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.54	4.65	0.57626	0.715000	0.25493	4.914000	0.45980	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.998000	0.85391	0.0:0.8458:0.1542:0.0	13.746	0.62356	377	0.83897	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1291.43	33	chr12	49043419	.	C	A	1291.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.183;DP=471;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-1.794;SOR=0.594	GT:AD:DP:GQ:PL	0/1:77,55:132:99:1303,0,2090	9	0	1	0
chr12	49330881	49330881	C	T	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon13:c.C2036T:p.P679L	.	414	1068	39	1	0	41	0.0188333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	.	0.0012	0.00279553	0.0033	9.705e-05	0.0003	0	0	0.0016	0.0077	0.0171	0.0029042	449	154602	rs151202383	0.0023	0.0023	0.0018	0.0027	0.0164	0.0022	0.0022	0.0157	0.0154	0.0002	0.0005	7.66e-05	0	7.651e-05	0.0132	0.0015	0.0024	0.0164	0.0012	0.0012	0.0011	0.0013	0.0112	0.0011	0.0010	0.0088	0.0080	0.0003	0	0.0003	0	0.0002	0	0.0204	0.0015	0.0024	0.0112	0.002	0.72154	D	0.002	0.92824	D	0.993	0.65571	D	0.608	0.51027	P	0.002031	0.37411	N	0.119814	0.792242	0.34401	D	2.255	0.64187	M	.	.	.	-5.07	0.82830	D	0.491	0.57518	-0.6156	0.64172	T	0.171	0.51293	T	9	0.0036646128	0.00067	T	.	.	.	0.171	0.43483	.	.	0.358540694251	0.35469	0.5002058081100541	0.49941	0.724235548467	0.62377	0.354177832603	0.18535	T	0.13271	0.46296	T	-0.302781	0.08399	T	-0.194727	0.55145	T	0.0593209418376601	0.07061	T	0.845915	0.52533	T	0.16959953	0.37486	0.17775902	0.40399	0.16959953	0.37486	0.17775902	0.40398	-4.074	0.24905	T	.	.	0.287	0.51951	B	.;.;.	.;.;.	3.944180	0.57739	23.9	0.99772410723977034	0.86003	0.22307	0.21702	N	AEFDGBCI	0.122227	0.23727	N	0.0927473183184727	0.46124	2.857777	0.0424489785806869	0.41708	2.510312	0.999999947508023	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.67	4.78	0.60666	2.432000	0.44442	3.939000	0.40590	0.599000	0.40250	0.027000	0.20232	0.992000	0.31684	0.990000	0.65344	0.0:0.91:0.0:0.09	10.245	0.42516	201	0.92177	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.005848	0.000000	0.008621	0.015244	0.007576	0.05	2194.43	36	chr12	49330881	.	C	T	2194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=647;ExcessHet=0;FS=0.523;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.199;SOR=0.627	GT:AD:DP:GQ:PL	0/1:109,89:198:99:2206,0,2573	9	0	1	0
chr12	51342684	51342684	C	T	exonic	CELA1	.	nonsynonymous SNV	CELA1:NM_001971:exon4:c.G217A:p.V73M	.	428	1093	1	0	0	1	0.000457247	.	.	.	3303790	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.893	0.325534727345	0.0002	.	7.421e-05	9.625e-05	8.651e-05	0	0	0.0001	0	0	5.82e-05	9	154602	rs145791288	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	2.236e-05	0	0	0	0.0003	0.0003	4.967e-05	1.159e-05	2.629e-05	2.627e-05	3.855e-05	1.346e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.41e-05	0	0	0.041	0.41915	D	0.016	0.60972	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.06	0.86941	M	-4.05	0.96496	D	-2.94	0.61435	D	0.846	0.84194	1.067	0.98520	D	0.929	0.97655	D	10	0.9299174	0.92333	D	0.325535	0.91601	D	0.893	0.96947	.	.	0.916288729468	0.91545	0.7135993069093439	0.71302	0.591077175418	0.54556	0.565438807011	0.48034	T	0.762551	0.93579	D	0.331359	0.85255	D	0.474866	0.94099	D	0.913032472133636	0.56916	D	0.918808	0.70803	D	0.7423358	0.80426	0.6428985	0.79130	0.7423358	0.80427	0.6428985	0.79131	-9.547	0.71151	D	.	.	0.656	0.71160	P	.	.	4.819463	0.78483	26.9	0.99771218298202502	0.85918	0.98640	0.85021	D	AEFDGBI	0.807879	0.73180	D	0.664872476260137	0.77336	6.654911	0.589770642658605	0.74202	6.097613	0.99999999999871	0.74766	0.428477	0.06694	0	0.491513	0.07743	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	7.349000	0.78620	7.363000	0.58355	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.373000	0.26178	0.0:1.0:0.0:0.0	17.770	0.88399	303	0.87825	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1986.43	35	chr12	51342684	.	C	T	1986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=472;ExcessHet=0;FS=0.614;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.204;SOR=0.608	GT:AD:DP:GQ:PL	0/1:81,82:163:99:1998,0,1768	9	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N,SCN8A:NM_001330260:exon11:c.G1581C:p.K527N,SCN8A:NM_001369788:exon11:c.G1581C:p.K527N,SCN8A:NM_014191:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	285.81	41	chr12	51706661	.	G	C	285.81	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.243;DP=517;ExcessHet=1.5895;FS=243.364;InbreedingCoeff=-0.4255;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.824;SOR=9.15	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,20:90:99:.:.:116,0,859:.	2	0	4	4
chr12	55492412	55492412	T	C	exonic	OR6C68	.	nonsynonymous SNV	OR6C68:NM_001005519:exon1:c.T35C:p.L12P	.	429	1063	28	2	0	32	0.0148285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	.	0.0022	0.00339457	0.0025	0.0002	0.0024	0	0.0032	0.0031	0.0033	0.0027	0.0024515	379	154602	rs117985155	0.0026	0.0026	0.0026	0.0027	0.0136	0.0025	0.0025	0.0111	0.0103	0.0004	0.0023	3.836e-05	0	0.0024	0.0136	0.0028	0.0030	0.0021	0.0024	0.0024	0.0023	0.0024	0.0039	0.0022	0.0021	0.0031	0.0028	0.0004	0	0.0039	0	0	0.0046	0.0068	0.0032	0.0052	0.0014	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.071944	0.21440	N	0.188860	0.991601	0.24010	N	3.865	0.95877	H	6.57	0.00522	T	-6.21	0.90411	D	0.789	0.78546	-1.0266	0.21560	T	0.010	0.03673	T	10	0.025379002	0.00734	T	.	.	.	0.203	0.48915	.	.	0.177238962908	0.17366	0.38092511495990716	0.38007	0.0215845920009	0.02143	0.269143164158	0.06029	T	0.051137	0.28794	T	-0.20296	0.20379	T	-0.0648343	0.65993	T	0.118353866398319	0.14268	T	0.852615	0.53799	D	0.8558097	0.87768	0.7081278	0.82788	0.8558097	0.87769	0.7081278	0.82789	-12.4	0.86745	D	.	.	0.215	0.44371	B	.	.	3.080598	0.41440	21.4	0.99791937209125881	0.87750	0.80020	0.39772	D	AEFI	0.543391	0.55874	D	0.576986557413594	0.71740	5.697058	0.34508044901819	0.58213	3.990421	0.900635547758469	0.26081	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	6.322000	0.72847	.	.	0.650000	0.52971	0.772000	0.29380	0.366000	0.24545	0.004000	0.06068	0.0:0.0:0.0:1.0	14.430	0.66817	747	0.52260	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.020380	0.008772	0.000000	0.017241	0.006098	0.000000	0.05	1099.43	33	chr12	55492412	.	T	C	1099.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.471;DP=410;ExcessHet=0;FS=1.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.686;SOR=0.501	GT:AD:DP:GQ:PL	0/1:56,47:103:99:1111,0,1322	9	0	1	0
chr12	57455589	57455589	G	A	exonic	INHBE	.	nonsynonymous SNV	INHBE:NM_031479:exon1:c.G53A:p.R18Q	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.0303304231464	0.0020	0.000399361	0.0015	0.0002	0.0022	0.0002	0	0.0020	0.0011	0.0007	0.0014553	225	154602	rs147161070	0.0017	0.0017	0.0016	0.0017	0.0049	0.0016	0.0016	0.0035	0.0030	0.0004	0.0025	0.0045	5.038e-05	5.634e-05	0.0049	0.0017	0.0022	0.0013	0.0015	0.0015	0.0015	0.0015	0.0044	0.0013	0.0012	0.0035	0.0032	0.0003	0	0.0044	0.0061	0.0004	0	0.0136	0.0015	0.0043	0.0017	0.358	0.11994	T	0.678	0.06147	T	0.001	0.07471	B	0.001	0.04355	B	0.002931	0.35704	N	0.292317	1	0.08975	N	0	0.06538	N	-1.26	0.79176	T	-0.05	0.07736	N	0.119	0.10911	-0.9783	0.35390	T	0.188	0.53886	T	10	0.006094575	0.00137	T	0.03033	0.52661	D	0.195	0.47612	.	.	0.910326776307	0.90943	0.20174336889574454	0.20091	0.285324388294	0.30943	0.320555984974	0.13505	T	0.337684	0.70704	T	-0.46638	0.00896	T	-0.447315	0.27992	T	0.00731476303273553	0.00084	T	0.537046	0.18049	T	0.029543165	0.02466	0.058391027	0.10783	0.029543165	0.02466	0.058391027	0.10783	-3.735	0.19835	T	.	.	0.073	0.04477	B	.	.	1.827354	0.23222	15.93	0.80157496373283865	0.13071	0.31456	0.24342	N	AEFBHCI	0.374710	0.45951	N	-0.973940288681426	0.09163	0.4325344	-0.893354785708029	0.12251	0.6290712	0.99999993705105	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.52208	0.10781	0	0.530356	0.10902	0	.	.	4.95	4.07	0.46726	1.551000	0.35841	4.249000	0.42748	-0.737000	0.03687	0.179000	0.24051	1.000000	0.68203	0.004000	0.06068	0.0952:0.0:0.9048:0.0	9.615	0.38850	268	0.89479	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002026	0.000000	0.004087	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1201.43	33	chr12	57455589	.	G	A	1201.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.844;DP=417;ExcessHet=0;FS=0.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.296;SOR=0.8	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1213,0,1223	9	0	1	0
chr12	57546597	57546597	C	T	exonic	DCTN2	.	nonsynonymous SNV	DCTN2:NM_001348065:exon1:c.G64A:p.G22R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs954982075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.582e-06	6.569e-06	0	1.348e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-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	.	.	.	.	.	.	.	.	0.05	687.43	35	chr12	57546597	.	C	T	687.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.851;DP=360;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-0.647;SOR=0.608	GT:AD:DP:GQ:PL	0/1:16,28:44:99:699,0,393	9	0	1	0
chr12	66456330	66456330	C	T	exonic	GRIP1	.	nonsynonymous SNV	GRIP1:NM_001366722:exon10:c.G1055A:p.R352K,GRIP1:NM_001379345:exon10:c.G1133A:p.R378K,GRIP1:NM_001379346:exon10:c.G1055A:p.R352K	Fraser syndrome, Autosomal recessive	8	1513	1	0	0	1	0.00033036	.	.	.	3190090	GRIP1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.0326676850449	.	.	0.0004	0.0036	0	0	0	0.0010	0	0	5.82e-05	9	154602	rs760742394	7.213e-05	5.746e-05	5.354e-05	9.143e-05	0.0011	5.927e-05	5.447e-05	0.0006	0.0005	0.0009	0.0004	6.277e-05	0	0	0.0011	3.913e-05	0.0002	1.313e-05	0.0004	0.0004	0.0002	0.0005	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	0.0008	0	0	0	0.0034	5.882e-05	0	0	0.758	0.03502	T	0.624	0.07342	T	.	.	.	.	.	.	0.000000	0.84330	D	0.048135	0.992612	0.81001	D	0.73	0.18813	N	2.26	0.17596	T	0.1	0.05810	N	0.193	0.21188	-1.0596	0.11855	T	0.036	0.15726	T	8	0.015716791	0.00330	T	0.032668	0.54431	D	0.151	0.39764	0.464	0.53404	0.591650888875	0.58842	.	.	.	.	.	.	.	0.190169	0.54462	T	-0.449238	0.01141	T	-0.448155	0.27902	T	0.0119732031854035	0.00188	T	0.839116	0.51273	T	0.2823339	0.51271	0.24372092	0.49822	0.2823339	0.51271	0.24372092	0.49821	-3.665	0.18803	T	0.07123860655258589	0.02819	0.102	0.17869	B	.	.	4.389001	0.67717	25.1	0.89728049701911639	0.19048	0.95280	0.64110	D	AEFBI	0.430575	0.49323	N	0.0624591842248355	0.44717	2.740744	0.251537370516267	0.52736	3.446546	0.991999269332924	0.32682	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.71	5.71	0.89031	3.892000	0.55947	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.247	0.98400	892	0.26670	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05	804.43	34	chr12	66456330	.	C	T	804.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.013;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.49;ReadPosRankSum=0.369;SOR=0.754	GT:AD:DP:GQ:PL	0/1:16,30:46:99:816,0,390	9	0	1	0
chr12	71584429	71584429	G	C	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon17:c.G2347C:p.V783L,LGR5:NM_001277227:exon17:c.G2203C:p.V735L,LGR5:NM_003667:exon18:c.G2419C:p.V807L	.	419	1102	0	1	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00691056198974	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1197841979	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	1.973e-05	1.971e-05	1.286e-05	2.694e-05	4.411e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.229	0.18956	T	0.406	0.14961	T	0.018	0.17786	B	0.028	0.21332	B	0.004786	0.33389	N	0.207336	0.939625	0.37267	D	0.955	0.23872	L	-0.56	0.71187	T	-0.88	0.25118	N	0.223	0.30347	-0.8205	0.53902	T	0.204	0.56155	T	10	0.22058952	0.38760	T	0.006911	0.18289	T	0.045	0.12272	0.456	0.52102	0.874189278319	0.87295	0.5358408385700676	0.53509	0.0571578602382	0.06324	0.463468670845	0.33785	T	0.093357	0.39194	T	-0.109036	0.34928	T	-0.394399	0.34036	T	0.569681823253632	0.35222	D	0.889511	0.72788	D	0.12282577	0.28855	0.1372447	0.32810	0.12282577	0.28855	0.1372447	0.32809	-6.622	0.52959	T	.	.	0.180	0.42022	B	.;.;.	.;.;.	2.577022	0.33407	19.33	0.98549142193313599	0.42820	0.81674	0.41031	D	AEFBHCI	.	.	.	-0.170340255596332	0.34374	1.961174	0.0389806947868419	0.41542	2.497545	0.929367184938469	0.26965	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	6.06	5.16	0.70563	3.572000	0.53593	8.670000	0.78005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7289:0.2711	14.247	0.65540	880	0.29376	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	.	.	.	.	.	.	.	.	0.05	3065.43	34	chr12	71584429	.	G	C	3065.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=542;ExcessHet=0;FS=1.69;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-0.692;SOR=0.577	GT:AD:DP:GQ:PL	0/1:97,112:209:99:3077,0,2449	9	0	1	0
chr12	82896304	82896304	G	A	exonic	TMTC2	.	nonsynonymous SNV	TMTC2:NM_001320321:exon2:c.G406A:p.V136I,TMTC2:NM_001320322:exon3:c.G1141A:p.V381I,TMTC2:NM_152588:exon3:c.G1141A:p.V381I	.	429	1014	75	4	0	83	0.0393179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0055	0.0115815	0.0112	0.0010	0.0031	0	0.0056	0.0089	0.0132	0.0408	0.0102715	1588	154602	rs35725509	0.0081	0.0081	0.0070	0.0093	0.0393	0.0080	0.0080	0.0382	0.0378	0.0012	0.0033	0.0130	7.557e-05	0.0046	0.0355	0.0063	0.0085	0.0393	0.0066	0.0066	0.0061	0.0071	0.0455	0.0062	0.0061	0.0405	0.0386	0.0013	0	0.0056	0.0130	0	0.0050	0.0272	0.0076	0.0071	0.0455	0.445	0.09600	T	0.397	0.15157	T	0.0	0.02946	B	0.0	0.04355	B	0.893502	0.07310	N	1.043000	1	0.08975	N	-0.14	0.04484	N	0.77	0.61089	T	-0.11	0.09135	N	0.031	0.03392	-1.0100	0.26917	T	0.067	0.27674	T	10	0.0032096207	0.00054	T	.	.	.	0.089	0.25827	.	.	.	.	0.4571219011695271	0.45630	0.120313219127	0.13549	0.259975850582	0.04888	T	0.001475	0.07715	T	-0.57472	0.00207	T	-0.569046	0.15538	T	0.00167859473731369	0.00017	T	0.385361	0.09439	T	0.029437745	0.02440	0.030641649	0.01546	0.029437745	0.02440	0.030641649	0.01546	-3.77	0.20357	T	.	.	0.063	0.01470	B	.;.;.	.;.;.	0.634495	0.10029	6.781	0.79113060385662604	0.12596	0.32747	0.24661	N	AEFBCI	0.178763	0.30603	N	-0.971895891915682	0.09207	0.434826	-0.862844228796074	0.12979	0.6707715	0.0213079614217698	0.13337	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.86	4.98	0.65679	1.657000	0.36981	2.077000	0.30474	-0.667000	0.04321	0.023000	0.19925	0.033000	0.21346	0.102000	0.18378	0.1418:0.0:0.7159:0.1423	6.911	0.23515	793	0.45818	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028701	0.005051	0.024457	0.043860	0.000000	0.068966	0.024390	0.018939	0.1	4198.14	34	chr12	82896304	.	G	A	4198.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.248;DP=673;ExcessHet=0.2348;FS=0.364;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.461;SOR=0.727	GT:AD:DP:GQ:PL	0/1:105,93:198:99:2284,0,2649	8	0	2	0
chr12	85027922	85027922	C	T	exonic	TSPAN19	.	nonsynonymous SNV	TSPAN19:NM_001100917:exon4:c.G241A:p.E81K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0649512470713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191865318	8.391e-06	1.094e-05	9.705e-06	7.054e-06	0.0001	4.48e-06	3.53e-06	3.501e-05	2.117e-05	3.068e-05	0.0001	3.928e-05	2.578e-05	0	0	2.735e-06	1.688e-05	1.237e-05	2.63e-05	2.627e-05	5.141e-05	0	5.881e-05	8.15e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.03	0.45393	D	0.193	0.28669	T	0.008	0.14655	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	2.265	0.64440	M	-1.46	0.80983	T	-3.68	0.70314	D	0.327	0.36779	-0.8159	0.54189	T	0.289	0.66104	T	9	0.3865534	0.54583	T	0.064951	0.69433	D	0.208	0.49714	0.772	0.89846	0.0666544352282	0.05500	0.3709435937602121	0.37008	0.0138822183601	0.01324	0.30561208725	0.11244	T	0.332344	0.70232	T	-0.0986282	0.36653	T	-0.379449	0.35787	T	0.0739902442990522	0.09201	T	0.578142	0.20837	T	0.14972763	0.34121	0.14735267	0.34874	0.14972763	0.34121	0.14735267	0.34873	-4.801	0.34603	T	.	.	0.174	0.38099	B	.;.	.;.	1.340411	0.17468	13.18	0.82526502845506489	0.14238	0.01874	0.05772	N	AEFBI	0.041113	0.06207	N	-1.35854494510219	0.03037	0.1350582	-1.41155050362419	0.03136	0.1456902	0.0269019477866073	0.13741	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	-1.66	0.07824	0.262000	0.18229	1.248000	0.25151	-0.991000	0.01849	0.166000	0.23880	0.820000	0.27118	0.024000	0.12247	0.0:0.7083:0.1457:0.146	6.565	0.21705	933	0.16026	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	541.43	34	chr12	85027922	.	C	T	541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.453;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=-0.249;SOR=0.76	GT:AD:DP:GQ:PL	0/1:43,24:67:99:553,0,1084	9	0	1	0
chr12	103985730	103985730	-	GGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTA	splicing	TDG	NM_001363612:exon8:c.661+2->GGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTA;NM_003211:exon9:c.1090+2->GGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTA	.	.	.	0	196	14	0	16	30	0.0344828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0004	0.0002	0	0.0002	0.0011	0.0004	3.84e-05	1	26028	rs749286024	7.58e-05	8.345e-05	8.224e-05	6.928e-05	0.0007	6.429e-05	5.982e-05	0.0005	0.0004	6.026e-05	0.0007	7.714e-05	0.0003	5.659e-05	0	3.166e-05	8.344e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2318.2	100	chr12	103985730	.	T	TGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTA	2318.2	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.83;DP=881;ExcessHet=2.8389;FS=11.598;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=56.62;MQRankSum=-8.876;QD=4.93;ReadPosRankSum=-4.107;SOR=1.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,17:101:99:0|1:103985728_A_ATTGAGAGC:458,0,3474:103985728	9	0	1	0
chr12	106321520	106321520	G	A	exonic	TCP11L2	.	nonsynonymous SNV	TCP11L2:NM_001286262:exon5:c.G449A:p.R150Q,TCP11L2:NM_152772:exon5:c.G449A:p.R150Q	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0266167698494	0.0021	0.000399361	0.0014	0.0009	0.0008	0.0002	0.0002	0.0022	0.0023	0.0002	0.0015718	243	154602	rs138066544	0.0025	0.0025	0.0026	0.0024	0.0030	0.0024	0.0024	0.0029	0.0029	0.0005	0.0013	0.0011	2.519e-05	9.36e-05	0.0024	0.0030	0.0028	0.0003	0.0017	0.0017	0.0020	0.0015	0.0028	0.0015	0.0015	0.0025	0.0023	0.0006	0	0.0020	0.0009	0	0.0002	0.0068	0.0028	0.0038	0.0004	0.064	0.68238	T	0.055	0.60972	T	0.996	0.68779	D	0.954	0.69447	D	0.000019	0.62929	D	0.113050	1	0.81001	D	2.725	0.79712	M	2.55	0.13795	T	-3.3	0.67129	D	0.433	0.48689	-1.0902	0.05499	T	0.112	0.40052	T	10	0.022249341	0.00551	T	0.026617	0.49512	D	0.271	0.58633	.	.	0.472982741448	0.46926	0.599964848057429	0.59927	0.13347774739	0.15028	0.351426035166	0.18132	T	0.100132	0.40562	T	-0.396211	0.02451	T	-0.34205	0.40113	T	0.0246036288702697	0.01221	T	0.937406	0.82717	D	0.5663731	0.70860	0.41167554	0.65392	0.5663731	0.70862	0.41167554	0.65392	-8.716	0.65850	D	.	.	0.201	0.42462	B	.;.;.;.	.;.;.;.	5.138356	0.86020	28.8	0.99960205834434734	0.99994	0.98773	0.86667	D	AEFBI	0.798578	0.72508	D	0.772792629799758	0.84378	8.271391	0.800262199471699	0.89812	10.13136	0.999999471590173	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.98	5.98	0.97147	7.714000	0.83668	9.822000	0.81809	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.0:1.0:0.0	20.437	0.99095	937	0.14592	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.005848	0.000000	0.008621	0.009146	0.003788	0.05	716.43	33	chr12	106321520	.	G	A	716.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.974;DP=372;ExcessHet=0;FS=2.392;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.01;SOR=1.219	GT:AD:DP:GQ:PL	0/1:29,29:58:99:728,0,656	9	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5962.79	39	chr12	111598993	.	C	*	5962.79	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.778;DP=328;ExcessHet=1.4371;FS=2.976;InbreedingCoeff=-0.0989;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.67;ReadPosRankSum=-0.77;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:38:66:1|0:111598949_GGCT_G:2052,1360,1414:111598949	9	0	1	0
chr12	113320378	113320378	G	A	exonic	SLC8B1	.	nonsynonymous SNV	SLC8B1:NM_001358345:exon7:c.C647T:p.T216I,SLC8B1:NM_024959:exon7:c.C647T:p.T216I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0321174087055	.	.	8.248e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs778437458	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.467	0.12351	T	0.01	0.15535	B	0.038	0.23361	B	0.000013	0.62929	N	0.065985	0.999998	0.81001	D	.	.	.	0.08	0.61559	T	-1.61	0.67359	N	0.286	0.32370	-0.9639	0.38428	T	0.151	0.47926	T	10	0.25349304	0.42717	T	0.032117	0.54029	D	0.125	0.34456	0.454	0.51775	0.664842147104	0.66202	0.5137012566316826	0.51292	0.201059955912	0.22505	0.455856740475	0.32744	T	0.17264	0.52121	T	-0.137677	0.30261	T	-0.266412	0.48183	T	0.309987246990204	0.25414	T	0.794021	0.43594	T	0.15868358	0.35686	0.16947533	0.38984	0.15868358	0.35686	0.16947533	0.38983	-9.091	0.68280	D	.	.	0.306	0.56357	B	.;.;.	.;.;.	2.854133	0.37691	20.6	0.98446388400926776	0.41575	0.96361	0.68762	D	AEFBI	0.615588	0.60247	D	-0.194453626945825	0.33364	1.892067	-0.0663699527351454	0.36790	2.145591	0.999988642996037	0.51787	0.706548	0.73137	0	0.708844	0.79440	0	0.67347	0.61138	0	0.714379	0.83352	0	.	.	4.47	3.55	0.39770	5.467000	0.66468	4.188000	0.42384	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0901:0.0:0.9099:0.0	11.604	0.50277	828	0.39726	Sodium/calcium exchanger membrane region;Sodium/calcium exchanger membrane region;Sodium/calcium exchanger membrane region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1946.43	36	chr12	113320378	.	G	A	1946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.232;DP=487;ExcessHet=0;FS=0.571;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.063;SOR=0.608	GT:AD:DP:GQ:PL	0/1:90,79:169:99:1958,0,2265	9	0	1	0
chr12	128705439	128705439	G	A	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon9:c.G2471A:p.R824H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.00738254727242	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs367776856	2.431e-05	2.394e-05	2.68e-05	2.174e-05	5.602e-05	1.75e-05	1.544e-05	1.714e-05	1.469e-05	0	5.602e-05	0	0	0	0	2.502e-05	1.724e-05	5.048e-05	3.944e-05	3.94e-05	5.14e-05	2.691e-05	7.242e-05	1.716e-05	1.13e-05	1.92e-05	1.032e-05	7.242e-05	0	6.546e-05	0	0	0	0	2.94e-05	0	0	0.03	0.45393	D	0.084	0.41239	T	1.0	0.90584	D	0.991	0.79672	D	0.000018	0.62929	D	0.000000	0.997443	0.43893	D	2.965	0.85198	M	2.55	0.13795	T	-2.34	0.51811	N	0.43	0.46928	-1.0501	0.14369	T	0.101	0.37543	T	10	0.3798304	0.54110	T	0.007383	0.19576	T	0.118	0.32913	.	.	0.226560886239	0.22246	0.3593221764635229	0.35846	0.248680489468	0.27433	0.365058600903	0.20120	T	0.012984	0.11314	T	-0.232125	0.16369	T	-0.377559	0.36008	T	0.699554860591888	0.40698	D	0.894311	0.63332	D	0.18035516	0.39153	0.13868202	0.33113	0.18035516	0.39153	0.13868202	0.33113	-4.225	0.27112	T	.	.	0.147	0.32469	B	.	.	4.748763	0.76661	26.6	0.9994895738873103	0.99931	0.82876	0.42046	D	AEFBI	0.396132	0.47272	N	0.551449365628274	0.70172	5.462434	0.48650533606385	0.67094	5.038376	0.0052915203296192	0.10891	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.78	4.78	0.60666	5.540000	0.66915	7.419000	0.58701	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.477000	0.28498	0.0:0.0:1.0:0.0	17.825	0.88573	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	.	.	.	.	.	.	.	.	0.05	2566.43	144	chr12	128705439	.	G	A	2566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.153;DP=1186;ExcessHet=0;FS=1.41;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=0.513;SOR=0.562	GT:AD:DP:GQ:PL	0/1:48,97:145:99:2578,0,1051	9	0	1	0
chr13	19993526	19993526	G	C	exonic	ZMYM2	.	nonsynonymous SNV	ZMYM2:NM_001190965:exon3:c.G454C:p.D152H,ZMYM2:NM_001353157:exon3:c.G454C:p.D152H,ZMYM2:NM_001353159:exon3:c.G454C:p.D152H,ZMYM2:NM_001353163:exon3:c.G454C:p.D152H,ZMYM2:NM_001353164:exon3:c.G454C:p.D152H,ZMYM2:NM_001353165:exon3:c.G454C:p.D152H,ZMYM2:NM_197968:exon3:c.G454C:p.D152H,ZMYM2:NM_001190964:exon4:c.G454C:p.D152H,ZMYM2:NM_001353161:exon4:c.G520C:p.D174H,ZMYM2:NM_003453:exon4:c.G454C:p.D152H,ZMYM2:NM_001353162:exon5:c.G454C:p.D152H	.	.	.	.	.	.	.	.	.	.	.	725413	Neurodevelopmental-craniofacial_syndrome_with_variable_renal_and_cardiac_abnormalities|not_provided	MONDO:MONDO:0859190,MedGen:C5561984,OMIM:619522|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.098	0.00794021349125	0.0030	0.00159744	0.0034	0.0008	0.0015	0	0.0045	0.0053	0.0033	0.0001	0.0032729	506	154602	rs35516773	0.0037	0.0037	0.0037	0.0037	0.0042	0.0036	0.0036	0.0041	0.0041	0.0004	0.0021	0.0015	0	0.0063	0.0014	0.0042	0.0033	4.64e-05	0.0031	0.0031	0.0034	0.0029	0.0052	0.0029	0.0028	0.0047	0.0045	0.0006	0	0.0025	0.0014	0	0.0038	0.0034	0.0052	0.0066	0	0.006	0.61437	D	0.025	0.56192	D	0.731	0.42679	P	0.45	0.46092	P	0.002056	0.37364	N	0.231865	0.733961	0.33749	D	2.05	0.56469	M	1.4	0.33630	T	-2.06	0.47175	N	0.347	0.41360	-0.9577	0.39608	T	0.123	0.42526	T	10	0.006703675	0.00152	T	0.00794	0.21059	T	0.098	0.28162	.	.	0.31316556289	0.30919	0.3907668601597996	0.38991	.	.	0.591616928577	0.51722	T	0.360109	0.72731	T	-0.406934	0.02083	T	-0.352322	0.38938	T	0.0350671209595358	0.02819	T	0.953905	0.82456	D	0.12434709	0.29178	0.14997244	0.35388	0.12434709	0.29178	0.14997244	0.35387	-4.101	0.25305	T	.	.	0.174	0.51729	B	.;.;.;.	.;.;.;.	4.355564	0.66934	25.0	0.99369017556632866	0.61368	0.95549	0.65164	D	AEFGBI	0.508799	0.53853	D	0.551434083007148	0.70168	5.462291	0.586248499678422	0.73954	6.055483	0.999999402215224	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	4.093000	0.57440	9.934000	0.82603	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0753:0.0:0.9247:0.0	12.825	0.57097	862	0.33134	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002717	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	2509.43	33	chr13	19993526	.	G	C	2509.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.586;DP=493;ExcessHet=0;FS=4.275;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=0.995;QD=13.86;ReadPosRankSum=-0.817;SOR=0.759	GT:AD:DP:GQ:PL	0/1:92,89:181:99:2521,0,2528	9	0	1	0
chr13	29024778	29024778	A	G	exonic	MTUS2	.	nonsynonymous SNV	MTUS2:NM_001384606:exon2:c.A80G:p.E27G,MTUS2:NM_001033602:exon3:c.A80G:p.E27G,MTUS2:NM_001366650:exon3:c.A80G:p.E27G,MTUS2:NM_001366651:exon3:c.A80G:p.E27G,MTUS2:NM_001384605:exon3:c.A80G:p.E27G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0148036944229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	0.001028	0.40562	N	0.105878	0.824755	0.34829	D	.	.	.	.	.	.	.	.	.	0.198	0.21839	-0.9881	0.33077	T	0.139	0.45791	T	9	0.19592467	0.35464	T	0.014804	0.35150	T	.	.	.	.	0.192905019026	0.18896	.	.	.	.	0.366098850965	0.20271	T	.	.	.	-0.00414676	0.51081	T	-0.243733	0.50432	T	0.949207365512848	0.63062	D	0.692631	0.30204	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.054026	0.40991	21.3	0.99766286777257285	0.85500	0.96485	0.69373	D	AEFBI	0.475333	0.51921	N	0.332922874543639	0.57846	3.953624	0.276625233724147	0.54176	3.583555	0.983750713254557	0.30609	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.84	5.84	0.93373	5.011000	0.63768	6.718000	0.56421	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.843000	0.39806	1.0:0.0:0.0:0.0	15.395	0.74501	844	0.36711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1047.43	34	chr13	29024778	.	A	G	1047.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.344;DP=390;ExcessHet=0;FS=0.857;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.165;SOR=0.707	GT:AD:DP:GQ:PL	0/1:38,40:78:99:1059,0,982	9	0	1	0
chr13	32339553	32339553	C	T	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.C5198T:p.S1733F	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	4	1516	2	0	0	2	0.000659196	.	.	YES	46506	BRCA2-related_cancer_predisposition|Fanconi_anemia_complementation_group_D1|Breast-ovarian_cancer,_familial,_susceptibility_to,_2|Familial_cancer_of_breast|Malignant_tumor_of_breast|not_specified|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided|BRCA2-related_disorder|Glioma_susceptibility_3|Medulloblastoma|Pancreatic_cancer,_susceptibility_to,_2|Prostate_cancer|Wilms_tumor_1|Hereditary_breast_ovarian_cancer_syndrome	MONDO:MONDO:0700269,MedGen:CN377758|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN221562|MedGen:C3661900|MedGen:CN239275|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029,Orphanet:182067,Orphanet:360|Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347,Orphanet:1333|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.159	0.0353782625712	0.0011	0.00179712	0.0005	0.0027	0	0	0	9.083e-05	0	0.0014	0.0004398	68	154602	rs55639415	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0034	0.0032	0.0039	9.109e-05	0.0016	0	0	0.0009	1.624e-05	0.0005	0.0013	0.0007	0.0007	0.0006	0.0008	0.0021	0.0006	0.0005	0.0018	0.0016	0.0021	0	6.543e-05	0.0026	0	0	0	1.471e-05	0.0005	0.0010	0.024	0.47745	D	0.022	0.57587	D	.	.	.	.	.	.	0.187354	0.16940	N	0.569164	1	0.08975	N	.	.	.	5.49	0.00930	T	-4.48	0.77965	D	0.509	0.54059	-0.9454	0.41748	T	0.003	0.00994	T	10	0.011440545	0.00250	T	0.035378	0.56304	D	0.159	0.41286	.	.	0.853585747351	0.85217	0.2286752432852918	0.22782	0.0291235366317	0.02998	0.301238834858	0.10586	T	.	.	.	-0.341536	0.05281	T	-0.268917	0.47930	T	0.00688320541989984	0.00078	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.32827	B	.;.	.;.	2.062811	0.26232	17.04	0.98291295127214995	0.39954	0.06867	0.12892	N	AEFBI	0.061044	0.11644	N	-0.550432485399389	0.20470	1.07932	-0.607327656014665	0.19304	1.035134	0.877128552663188	0.25539	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.62	2.52	0.29514	0.540000	0.22900	0.851000	0.22138	0.599000	0.40250	0.001000	0.13787	0.381000	0.24616	0.018000	0.11154	0.1181:0.4916:0.3007:0.0896	4.745	0.12408	748	0.52143	.;.	.	.	.	.	.	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	0.002016	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2449.43	123	chr13	32339553	.	C	T	2449.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.05;DP=908;ExcessHet=0;FS=7.074;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.16;SOR=0.676	GT:AD:DP:GQ:PL	0/1:100,93:193:99:2461,0,2694	9	0	1	0
chr13	33060769	33060769	G	A	exonic	KL	.	nonsynonymous SNV	KL:NM_004795:exon4:c.G1690A:p.V564M	Tumoral calcinosis, hyperphosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1362031	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.00480746888493	.	.	3.295e-05	0	0	0	0	2.997e-05	0	0.0001	2.59e-05	4	154602	rs766985910	5.472e-06	5.472e-06	1.361e-06	9.625e-06	3.478e-05	2.35e-06	1.7e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	3.597e-06	1.656e-05	3.478e-05	1.314e-05	1.313e-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	0.221	0.18889	T	0.257	0.23231	T	0.01	0.15535	B	0.027	0.21085	B	0.698174	0.10116	N	0.877606	1	0.08975	N	3.04	0.86592	M	1.46	0.32238	T	-0.77	0.21429	N	0.109	0.09490	-0.9727	0.36627	T	0.074	0.29865	T	10	0.07883197	0.12610	T	0.004807	0.12035	T	0.049	0.13647	0.484	0.56621	0.509053020717	0.50544	0.5139850776519714	0.51320	0.126778985042	0.14284	0.36135071516	0.19583	T	0.086102	0.37650	T	-0.349239	0.04775	T	-0.557906	0.16575	T	0.0865864604426829	0.10807	T	0.725427	0.33942	T	0.09201672	0.21576	0.09818602	0.23400	0.09201672	0.21576	0.09818602	0.23399	-6.818	0.52693	T	0.142693373029224	0.16158	0.088	0.11510	B	.	.	1.080287	0.14631	11.19	0.98742245129115291	0.45527	0.11782	0.16858	N	AEFDBI	0.116423	0.22849	N	-0.630676829400182	0.18026	0.9326459	-0.637540469184433	0.18532	0.990383	0.999257434616117	0.38906	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.44	2.71	0.31092	0.189000	0.16845	2.331000	0.32195	0.672000	0.70159	0.000000	0.06391	0.995000	0.32472	0.876000	0.41813	0.1432:0.2431:0.4723:0.1413	3.054	0.05806	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	.	.	.	.	.	.	.	.	0.05	2459.43	34	chr13	33060769	.	G	A	2459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.423;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.298;SOR=0.674	GT:AD:DP:GQ:PL	0/1:96,89:185:99:2471,0,2568	9	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	.	.	.	.	.	.	.	.	0.375	829.52	139	chr13	38859428	.	G	C	829.52	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-3.772;DP=1447;ExcessHet=4.5998;FS=263.084;InbreedingCoeff=-0.5678;MLEAC=7;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.69;SOR=11.973	GT:AD:DP:GQ:PL	0/1:77,35:121:71:71,0,1280	2	0	6	2
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	.	.	.	.	.	.	.	.	0.35	1521.44	33	chr13	42303097	.	G	C	1521.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.533;DP=1112;ExcessHet=7.0302;FS=278.586;InbreedingCoeff=-0.5475;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=0.958;SOR=11.075	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:95,43:138:99:.:.:391,0,2313:.	3	0	7	0
chr13	51751363	51751363	G	A	exonic	WDFY2	.	nonsynonymous SNV	WDFY2:NM_052950:exon8:c.G779A:p.C260Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622	0.200464271272	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs373800955	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.3	0.20357	T	0.997	0.70673	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.74	0.94936	H	0.12	0.61089	T	-3.82	0.71997	D	0.902	0.90251	0.012	0.82500	D	0.481	0.80159	T	10	0.8903177	0.88372	D	0.200464	0.86710	D	0.622	0.85354	.	.	0.878855509881	0.87767	0.7883419958189487	0.78786	1.50980411817	0.87210	0.851484298706	0.89838	D	0.130939	0.46013	T	0.367309	0.87818	D	0.289837	0.87664	D	0.998342275619507	0.93889	D	0.948305	0.80045	D	0.5883091	0.72059	0.5585368	0.74461	0.5883091	0.72060	0.5585368	0.74461	-16.338	0.98224	D	.	.	0.945	0.86393	P	.	.	5.170906	0.86670	29.0	0.99799741227191752	0.88461	0.99226	0.93090	D	AEFDBI	0.917020	0.88403	D	1.01279026352488	0.96125	14.329	0.974045118244774	0.98059	17.33525	0.999999999998976	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.644132	0.48003	0	0.567892	0.33627	0	.	.	6.01	6.01	0.97420	9.533000	0.97129	11.802000	0.96681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0:1.0:0.0	19.509	0.95127	894	0.26265	WD40 repeat, conserved site|WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1742.43	34	chr13	51751363	.	G	A	1742.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.061;DP=450;ExcessHet=0;FS=2.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.803;SOR=0.633	GT:AD:DP:GQ:PL	0/1:60,74:134:99:1754,0,1314	9	0	1	0
chr13	60008567	60008567	G	A	exonic	DIAPH3	.	nonsynonymous SNV	DIAPH3:NM_001258370:exon3:c.C202T:p.R68W,DIAPH3:NM_030932:exon3:c.C202T:p.R68W,DIAPH3:NM_001258367:exon7:c.C853T:p.R285W,DIAPH3:NM_001258368:exon7:c.C781T:p.R261W,DIAPH3:NM_001258366:exon8:c.C958T:p.R320W,DIAPH3:NM_001042517:exon9:c.C991T:p.R331W,DIAPH3:NM_001258369:exon9:c.C991T:p.R331W	Auditory neuropathy, autosomal dominant, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.22984629181	.	.	2.489e-05	0	0	0	0	1.502e-05	0	0.0001	2.59e-05	4	154602	rs751399426	6.845e-06	6.841e-06	5.449e-06	8.256e-06	0.0002	3.46e-06	2.52e-06	1.583e-05	9.3e-06	2.99e-05	0	0	0	0	0.0002	2.699e-06	1.658e-05	4.64e-05	1.316e-05	1.314e-05	0	2.695e-05	2.417e-05	2.19e-06	8.2e-07	.	.	2.417e-05	0	0	0	0	0	0	1.471e-05	0	0	0.013	0.58626	D	0.004	0.74150	D	0.995	0.73220	D	0.745	0.57495	P	0.019217	0.27308	N	0.407810	0.98136	0.25045	N	2.095	0.58118	M	-2.24	0.87194	D	-4.5	0.78135	D	0.436	0.48596	-0.0751	0.80662	T	0.665	0.88381	D	10	0.6597771	0.70085	D	0.229846	0.88203	D	0.434	0.73951	0.63	0.76588	0.958088355825	0.95763	0.4302385008212907	0.42940	0.53220533833	0.50693	0.251112222672	0.03886	T	0.643405	0.89092	D	-0.0902887	0.38027	T	-0.185942	0.55969	T	0.976059317588806	0.71208	D	0.963304	0.92911	D	0.24700128	0.47674	0.25952715	0.51703	0.24700128	0.47674	0.25952715	0.51702	-11.031	0.79828	D	.	.	0.115	0.25396	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.645271	0.73998	26.1	0.99877971989277192	0.95491	0.87858	0.47544	D	AEFI	0.549674	0.56246	D	0.309291820193332	0.56624	3.827443	0.27565909459495	0.54123	3.578	0.994827798798356	0.33818	0.706298	0.61202	0	0.708844	0.79440	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.72	2.95	0.33285	3.178000	0.50579	3.890000	0.40289	0.618000	0.50648	0.996000	0.39380	1.000000	0.68203	0.900000	0.43643	0.0:0.1275:0.6077:0.2647	10.8	0.45685	935	0.14827	Formin, FH3 domain|Rho GTPase-binding/formin homology 3 (GBD/FH3) domain|Formin, FH3 domain;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1912.43	33	chr13	60008567	.	G	A	1912.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=497;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.453;SOR=0.734	GT:AD:DP:GQ:PL	0/1:81,78:159:99:1924,0,1771	9	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1754.69	104	chr13	69882456	.	G	A	1754.69	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.531;DP=1331;ExcessHet=22.563;FS=222.247;InbreedingCoeff=-0.9152;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=0.573;SOR=12.405	GT:AD:DP:GQ:PL	0/1:78,35:126:99:105,0,1283	0	0	10	0
chr13	77243862	77243862	C	T	exonic	MYCBP2	.	nonsynonymous SNV	MYCBP2:NM_015057:exon16:c.G2471A:p.R824K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00400880951867	.	.	8.317e-06	0	0	0	0	0	0	6.101e-05	3.84e-05	1	26028	rs760601740	1.368e-06	1.368e-06	0	2.751e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.623	0.05262	T	0.699	0.05747	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	.	.	.	1.68	0.27184	T	-0.67	0.19297	N	0.285	0.32259	-1.1419	0.01289	T	0.085	0.33128	T	10	0.25152257	0.42493	T	0.004009	0.09525	T	0.194	0.47447	0.491	0.57732	0.400080326499	0.39624	.	.	1.04435630329	0.75902	0.873933553696	0.93126	D	.	.	.	-0.194134	0.21653	T	-0.335108	0.40897	T	0.8101966381073	0.47061	D	0.779122	0.41282	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.994088	0.39986	21.1	0.95382130971154211	0.26809	0.96937	0.71758	D	AEFBI	0.760727	0.69866	D	0.375761463476672	0.60111	4.196589	0.463932536686375	0.65615	4.846386	0.999999999999943	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.57	5.57	0.84021	6.179000	0.71907	7.675000	0.64997	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.490000	0.28791	0.0:1.0:0.0:0.0	19.555	0.95331	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5403.12	33	chr13	77243862	.	C	T	5403.12	.	AC=2;AF=0.1;AN=20;DP=500;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.53;SOR=0.947	GT:AD:DP:GQ:PL	1/1:0,183:183:99:5426,548,0	9	1	0	0
chr13	91693274	91693274	C	A	exonic	GPC5	.	nonsynonymous SNV	GPC5:NM_004466:exon3:c.C413A:p.A138D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0258491574561	.	0.000199681	1.648e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs555388978	6.841e-06	6.84e-06	6.806e-06	6.876e-06	0.0002	3.46e-06	2.52e-06	5.395e-05	4.042e-05	0	0	0	0	0	0.0002	0	0	0.0001	6.569e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.567	0.06243	T	0.47	0.12246	T	0.888	0.48822	P	0.763	0.56556	P	0.011654	0.29451	N	0.378243	0.935872	0.37136	D	2.395	0.69210	M	0.68	0.51952	T	-2.92	0.61129	D	0.588	0.60833	-0.8132	0.54356	T	0.182	0.52965	T	10	0.3228818	0.49632	T	0.025849	0.48797	D	0.198	0.48105	0.565	0.68633	0.445811967706	0.44203	0.6879609044738317	0.68736	0.264006674649	0.28951	0.39762955904	0.24739	T	0.42947	0.77826	T	-0.180521	0.23658	T	-0.315554	0.43059	T	0.921611368656158	0.58135	D	0.79622	0.43953	T	0.25783396	0.48830	0.27059624	0.52952	0.25783396	0.48830	0.27059624	0.52951	-10.7	0.77987	D	.	.	0.208	0.43558	B	.;.	.;.	3.680824	0.52392	23.2	0.9908290354770094	0.52002	0.69151	0.34075	D	AEFBI	0.512801	0.54086	D	0.173353806693738	0.49922	3.187429	0.109257727088831	0.45020	2.772789	0.957429374784137	0.28303	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.07	3.32	0.37134	2.798000	0.47578	3.240000	0.36960	0.549000	0.26987	0.133000	0.23395	0.991000	0.31484	0.974000	0.55675	0.0:0.7424:0.0:0.2576	7.597	0.27224	935	0.14827	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.017241	0.000000	0.000000	0.1	2977.12	36	chr13	91693274	.	C	A	2977.12	.	AC=2;AF=0.1;AN=20;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=34.62;SOR=1.721	GT:AD:DP:GQ:PL	1/1:0,86:86:99:3000,258,0	9	1	0	0
chr13	110719251	110719251	G	C	exonic	ING1	.	nonsynonymous SNV	ING1:NM_001267728:exon2:c.G108C:p.E36D,ING1:NM_005537:exon2:c.G588C:p.E196D,ING1:NM_198217:exon2:c.G27C:p.E9D,ING1:NM_198219:exon2:c.G159C:p.E53D	Squamous cell carcinoma, head and neck, somatic	8	1509	4	1	0	6	0.00198413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00633789217804	0.0005	0.000599042	0.0009	0	0.0003	0	0	0.0010	0	0.0020	0.0007115	110	154602	rs138276642	0.0005	0.0005	0.0004	0.0005	0.0020	0.0005	0.0004	0.0017	0.0016	0	6.708e-05	0.0134	0	0	0.0012	9.083e-05	0.0013	0.0020	0.0005	0.0005	0.0005	0.0006	0.0021	0.0004	0.0004	0.0011	0.0009	0	0	0	0.0182	0	0	0	0.0001	0	0.0021	1.0	0.16738	T	0.895	0.15602	T	0.0	0.02946	B	0.002	0.06944	B	0.003665	0.34636	N	0.332010	1	0.81001	D	.	.	.	0.84	0.47477	T	0.04	0.10308	N	0.111	0.09772	-0.9697	0.37262	T	0.045	0.19275	T	10	0.003244102	0.00055	T	0.006338	0.16668	T	0.024	0.04979	0.338	0.32816	0.254244900254	0.25046	0.05736288601001435	0.05677	1.03796569451	0.75674	0.530464112759	0.43100	T	0.025902	0.19278	T	-0.645014	0.00078	T	-0.706558	0.05475	T	0.0160968410488355	0.00387	T	0.806819	0.45805	T	.	.	.	.	.	.	.	.	-3.995	0.23729	T	.	.	0.056	0.09288	B	.;.;.;.	.;.;.;.	-0.505994	0.01848	0.148	0.1955308789083853	0.00665	0.09699	0.15396	N	AEFDBCI	0.044636	0.07205	N	-1.41968783469531	0.02466	0.1089312	-1.4647385711663	0.02639	0.1217504	0.999999890866248	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.13	-6.52	0.01703	-1.070000	0.03551	-3.663000	0.02622	0.526000	0.24426	0.017000	0.19353	0.000000	0.08366	0.351000	0.25682	0.1068:0.6016:0.1721:0.1195	8.676	0.33343	982	0.03397	.;.;Inhibitor of growth protein, N-terminal histone-binding|Inhibitor of growth protein, N-terminal histone-binding;Inhibitor of growth protein, N-terminal histone-binding|Inhibitor of growth protein, N-terminal histone-binding	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1227.43	41	chr13	110719251	.	G	C	1227.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.371;DP=446;ExcessHet=0;FS=2.325;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=3.22;SOR=0.933	GT:AD:DP:GQ:PL	0/1:71,52:123:99:1239,0,1812	9	0	1	0
chr13	113406766	113406766	T	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.A1424T:p.E475V,LOC101928841:NM_001375393:exon2:c.A1424T:p.E475V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.07398	.	.	.	.	.	.	.	0.10832843	0.20162	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022783	0.17502	T	.	.	.	.	.	.	.	.	.	0.368163	0.08622	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.42185	B	.	.	1.140841	0.15283	11.73	0.55507533220384642	0.05357	0.28062	0.23450	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999992368171359	0.74766	0.056701	0.00814	0	0.059962	0.00310	0	0.074216	0.02223	0	0.062806	0.01542	0	0.0530651	0.11583	4.96	3.74	0.42108	0.073000	0.14504	0.316000	0.17134	0.607000	0.46521	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1542:0.0:0.1611:0.6847	6.585	0.21810	976	0.04745	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3056.43	40	chr13	113406766	.	T	A	3056.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.998;DP=1079;ExcessHet=0;FS=0.498;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.431;SOR=0.711	GT:AD:DP:GQ:PL	0/1:103,112:215:99:3068,0,2669	9	0	1	0
chr13	113534162	113534162	G	A	exonic	TMCO3	.	nonsynonymous SNV	TMCO3:NM_001349743:exon6:c.G964A:p.E322K,TMCO3:NM_001349746:exon7:c.G1156A:p.E386K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1518.43	36	chr13	113534162	.	G	A	1518.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.404;DP=474;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.756;SOR=0.669	GT:AD:DP:GQ:PL	0/1:90,65:155:99:1530,0,2431	9	0	1	0
chr14	19781253	19781253	G	A	exonic	OR4M1	.	nonsynonymous SNV	OR4M1:NM_001005500:exon1:c.G931A:p.E311K	.	424	1079	19	0	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00318015179772	0.0002	0.000399361	0.0005	0.0001	0.0004	0	0	0.0003	0	0.0025	0.000401	62	154602	rs2318549	0.0004	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	3.02e-05	0.0002	0.0002	0	0	0.0035	0.0002	0.0004	0.0023	0.0002	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	2.404e-05	0	0.0007	0.0003	0	0	0	0.0002	0.0009	0.0021	1.0	0.00964	T	0.951	0.02610	T	0.0	0.02946	B	0.0	0.01387	B	0.013227	0.28908	N	0.244803	0.999986	0.18198	N	-0.205	0.04094	N	9.91	0.00000	T	0.41	0.03407	N	0.149	0.15187	-1.1481	0.01083	T	0.000	0.00039	T	10	0.0059630275	0.00134	T	0.00318	0.06966	T	0.080	0.23350	.	.	0.33835085245	0.33439	0.1229335702098152	0.12219	0.00235242544378	0.00204	0.417993187904	0.27561	T	0.001081	0.00603	T	-0.654698	0.00068	T	-0.719372	0.04826	T	0.0086430702238138	0.00106	T	0.344066	0.07525	T	0.03778965	0.04913	0.051260136	0.08214	0.03778965	0.04913	0.051260136	0.08214	-1.404	0.01579	T	.	.	0.060	0.00919	B	.;.	.;.	0.744457	0.11139	7.782	0.55914138705577587	0.05442	0.00847	0.03386	N	AEFGI	0.026292	0.01947	N	-0.857016938671583	0.11878	0.5757078	-0.693444924623671	0.17123	0.9091206	4.45107030509885E-4	0.07004	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.07	2.88	0.32617	0.679000	0.24971	2.853000	0.35153	-0.067000	0.16409	0.001000	0.13787	0.999000	0.35428	0.266000	0.23669	0.7275:0.1747:0.0977:0.0	5.457	0.15894	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.000000	0.05	3758.43	131	chr14	19781253	.	G	A	3758.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.564;DP=1715;ExcessHet=0;FS=7.618;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.66;MQRankSum=-2.118;QD=14.13;ReadPosRankSum=1.33;SOR=0.381	GT:AD:DP:GQ:PL	0/1:125,141:266:99:3770,0,3422	9	0	1	0
chr14	20060808	20060808	T	C	exonic	OR4L1	.	nonsynonymous SNV	OR4L1:NM_001004717:exon1:c.T764C:p.I255T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.00371577921331	.	.	8.299e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs760541211	4.109e-06	4.104e-06	1.363e-06	6.884e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.499e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.022	0.57587	D	0.825	0.45873	P	0.58	0.50189	P	0.000053	0.53742	D	0.000000	0.983656	0.24866	N	2.055	0.56616	M	1.02	0.40749	T	-4.61	0.79060	D	0.339	0.38027	-0.8747	0.50173	T	0.166	0.50421	T	10	0.22765094	0.39650	T	0.003716	0.08589	T	0.120	0.33359	0.43	0.47843	0.59966951432	0.59648	0.05115297572913014	0.05057	0.0165124899938	0.01591	0.412249177694	0.26769	T	0.017046	0.13973	T	-0.122124	0.32777	T	-0.413199	0.31857	T	0.860836923122406	0.51127	D	0.536146	0.17993	T	0.40331995	0.60962	0.42221037	0.66129	0.40331995	0.60962	0.42221037	0.66129	-6.218	0.48069	T	.	.	0.251	0.48561	B	.	.	3.699682	0.52758	23.3	0.99425659063515881	0.63984	0.16910	0.19604	N	AEI	0.055308	0.10129	N	0.138253175572168	0.48255	3.040225	0.0648770028408068	0.42796	2.594954	0.00120752694076626	0.08334	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.13	4.13	0.47661	0.303000	0.18965	4.581000	0.43919	0.642000	0.52262	0.000000	0.06391	0.864000	0.27519	0.990000	0.65344	0.0:0.0:0.0:1.0	11.420	0.49219	988	0.01987	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	.	.	.	.	.	.	.	.	0.05	1650.43	101	chr14	20060808	.	T	C	1650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.711;DP=822;ExcessHet=0;FS=5.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-0.525;SOR=0.346	GT:AD:DP:GQ:PL	0/1:58,62:120:99:1662,0,1671	9	0	1	0
chr14	20429556	20429556	T	C	exonic	KLHL33	.	nonsynonymous SNV	KLHL33:NM_001109997:exon3:c.A995G:p.N332S,KLHL33:NM_001365790:exon4:c.A1787G:p.N596S	.	430	1089	3	0	0	3	0.00137552	.	.	.	2399010	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.00463190631276	.	0.000199681	0.0003	0	0	0	0	0	0	0.0009	5.17e-05	8	154602	rs565567891	8.714e-05	8.345e-05	5.356e-05	0.0001	0.0012	7.451e-05	6.979e-05	0.0010	0.0009	0.0001	2.8e-05	0	0	2.017e-05	0.0005	1.39e-05	0.0001	0.0012	7.228e-05	7.219e-05	3.856e-05	0.0001	0.0010	3.971e-05	3.127e-05	0.0004	0.0003	0.0001	0	0	0	0	0	0	0	0	0.0010	0.511	0.07473	T	0.788	0.04220	T	0.0	0.02946	B	0.003	0.08700	B	0.012285	0.29224	N	0.377447	0.999998	0.08975	N	-0.275	0.03743	N	-0.25	0.67011	T	0.34	0.03824	N	0.063	0.03502	-0.9857	0.33663	T	0.122	0.42357	T	10	0.013245553	0.00282	T	0.004632	0.11472	T	0.099	0.28413	0.29	0.25081	0.0611884634855	0.05136	0.4300276249705541	0.42919	.	.	0.353757679462	0.18473	T	0.00273	0.21238	T	-0.528711	0.00391	T	-0.599709	0.12835	T	0.0448037596092088	0.04566	T	0.693131	0.30283	T	0.07011081	0.15415	0.06786531	0.14095	0.07011081	0.15415	0.06786531	0.14095	-2.914	0.09284	T	.	.	0.067	0.04436	B	.;.;.	.;.;.	0.825580	0.11971	8.529	0.57850169091255788	0.05861	0.02321	0.06652	N	AEFBI	0.056378	0.10419	N	-0.728364715407435	0.15227	0.7655741	-0.642200111249892	0.18413	0.983561	0.999692239505212	0.41870	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.34	1.64	0.22949	1.058000	0.30114	0.595000	0.19862	0.665000	0.62972	0.449000	0.26558	0.450000	0.24948	0.983000	0.59808	0.0:0.2727:0.0:0.7273	7.395	0.26107	946	0.12043	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3339.43	82	chr14	20429556	.	T	C	3339.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=1225;ExcessHet=0;FS=5.874;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.419;SOR=0.599	GT:AD:DP:GQ:PL	0/1:128,125:253:99:3351,0,3313	9	0	1	0
chr14	23182829	23182829	G	A	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_012244:exon1:c.C86T:p.S29F	.	422	1048	49	3	0	55	0.0255695	.	.	.	702816	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.487	.	0.0028	0.0081869	0.0080	0.0003	0.0014	0	0.0006	0.0045	0.0067	0.0400	0.0070762	1094	154602	rs149980964	0.0047	0.0047	0.0036	0.0058	0.0380	0.0046	0.0046	0.0369	0.0365	0.0007	0.0019	0.0038	2.519e-05	0.0004	0.0196	0.0027	0.0050	0.0380	0.0032	0.0032	0.0028	0.0035	0.0345	0.0029	0.0028	0.0302	0.0286	0.0004	0	0.0016	0.0055	0	0.0002	0.0238	0.0035	0.0033	0.0345	0.017	0.57480	D	0.013	0.63109	D	0.832	0.46138	P	0.372	0.43610	B	0.341355	0.04190	N	1.418020	0.992952	0.41792	D	0.805	0.20218	L	-2.77	0.94729	D	-1.63	0.55181	N	0.273	0.30914	-0.1033	0.80023	T	0.687	0.89202	D	10	0.0052812696	0.00115	T	.	.	.	0.487	0.77528	.	.	0.909297500959	0.90839	0.3522502682804079	0.35139	0.297628983758	0.32147	0.453847408295	0.32470	T	0.361478	0.72755	T	-0.122026	0.32792	T	0.0805097	0.75612	D	0.0209146189981329	0.00792	T	0.665033	0.27384	T	0.2062962	0.42800	0.25939348	0.51687	0.16817287	0.37258	0.25939348	0.51686	-8.313	0.63183	D	.	.	0.099	0.35726	B	.;.;.;.	.;.;.;.	4.600120	0.72850	25.9	0.99476875340855098	0.66633	0.76768	0.37677	D	ALL	0.757503	0.69644	D	0.289633842244921	0.55621	3.726227	0.403552687569752	0.61787	4.383672	0.999999999999875	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.504199	0.09095	0	0.56751	0.32155	0	.	.	5.45	5.45	0.79688	5.488000	0.66589	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.0:1.0:0.0	16.771	0.85399	851	0.35303	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.005051	0.008152	0.005848	0.000000	0.008621	0.003049	0.045455	0.05	2478.43	33	chr14	23182829	.	G	A	2478.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.452;DP=523;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.298;SOR=0.68	GT:AD:DP:GQ:PL	0/1:88,103:191:99:2490,0,2089	9	0	1	0
chr14	24050918	24050918	C	A	exonic	DHRS4;DHRS4L1	.	nonsynonymous SNV	DHRS4L1:NM_001277864:exon5:c.C403A:p.L135I	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0002	0.000199681	0.0003	0.0002	0.0015	0.0005	0	0.0002	0	0.0002	0.0003169	49	154602	rs2759413	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0006	0.0005	0.0001	0.0008	0	0.0005	0	0.0009	0.0001	0.0003	0.0003	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.694e-05	0.0001	8.876e-05	0.0001	0	0.0003	0	0	0	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5487.14	224	chr14	24050918	.	C	A	5487.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.71;DP=1041;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.64;MQRankSum=-4.16;QD=11.75;ReadPosRankSum=-0.666;SOR=0.709	GT:AD:DP:GQ:PL	0/1:129,114:243:99:2907,0,3380	8	0	2	0
chr14	24050936	24050936	A	G	exonic	DHRS4;DHRS4L1	.	nonsynonymous SNV	DHRS4L1:NM_001277864:exon5:c.A421G:p.M141V	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0003	.	0.0002	0.0002	8.663e-05	0	0	0.0001	0	0.0009	0.0001746	27	154602	rs201276410	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0007	0.0006	0.0005	4.49e-05	0	2.526e-05	1.88e-05	0	0.0001	0.0002	0.0008	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4517.14	191	chr14	24050936	.	A	G	4517.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.08;DP=963;ExcessHet=0.2348;FS=0.39;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.05;MQRankSum=-4.803;QD=11.61;ReadPosRankSum=0.885;SOR=0.648	GT:AD:DP:GQ:PL	0/1:112,86:198:99:2320,0,2957	8	0	2	0
chr14	24149570	24149570	C	A	exonic	RNF31	.	nonsynonymous SNV	RNF31:NM_001310332:exon6:c.C343A:p.H115N,RNF31:NM_017999:exon6:c.C796A:p.H266N	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00655531646369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.06067	T	0.878	0.10281	T	0.0	0.02946	B	0.0	0.01387	B	0.414412	0.04610	N	1.309680	1	0.08975	N	0.92	0.23413	L	1.05	0.39990	T	0.55	0.05810	N	0.111	0.22998	-1.0252	0.22017	T	0.059	0.24686	T	10	0.06604561	0.09000	T	0.006555	0.17272	T	0.084	0.24469	0.347	0.34274	0.244449712813	0.24043	0.20266360450272064	0.20183	0.252073141098	0.27777	0.294397741556	0.09568	T	0.00753	0.34196	T	-0.289613	0.09675	T	-0.653785	0.08691	T	0.0179717298597097	0.00522	T	.	.	.	0.023374422	0.01072	0.029758358	0.01349	0.023374422	0.01072	0.029758358	0.01349	-4.624	0.32472	T	.	.	0.071	0.06990	B	.;.;.	.;.;.	0.323424	0.06979	3.530	0.71044425411811074	0.09496	0.02876	0.07652	N	AEFBI	0.055604	0.10210	N	-1.05838494714626	0.07424	0.3448295	-1.03619927359785	0.08996	0.4452201	0.999588634556469	0.40607	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	0.041	0.13529	0.015000	0.13250	0.549000	0.19403	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.235000	0.22869	0.6337:0.2868:0.0:0.0795	8.964	0.35026	894	0.26265	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	2137.14	98	chr14	24149570	.	C	A	2137.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.253;DP=483;ExcessHet=0.2348;FS=1.175;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=1.42;SOR=0.568	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1233,0,1189	8	0	2	0
chr14	52038828	52038828	C	T	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon9:c.G2176A:p.V726M	.	425	1095	2	0	0	2	0.000912409	.	.	.	2810421	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.080	.	0.0042	0.000998403	0.0043	0.0009	0.0004	0	0.0133	0.0060	0.0077	0.0005	0.0042755	661	154602	rs35147930	0.0051	0.0051	0.0051	0.0051	0.0057	0.0050	0.0049	0.0056	0.0055	0.0006	0.0005	0.0020	0	0.0132	0.0009	0.0057	0.0038	0.0008	0.0042	0.0042	0.0040	0.0045	0.0065	0.0040	0.0039	0.0060	0.0058	0.0008	0.0022	0.0008	0.0032	0.0002	0.0128	0.0034	0.0065	0.0033	0.0004	0.117	0.28271	T	0.173	0.31326	T	1.0	0.90584	D	0.913	0.64886	D	0.000000	0.84330	D	0.050316	0.975929	0.39231	D	2.045	0.56016	M	1.58	0.29085	T	-1.94	0.45042	N	0.271	0.38848	-0.7799	0.56308	T	0.144	0.46750	T	10	0.007125318	0.00162	T	.	.	.	0.172	0.43662	.	.	0.618703310563	0.61561	0.3708556932472328	0.36999	0.451365656779	0.44884	0.610292315483	0.54357	T	0.208649	0.56864	T	-0.302387	0.08436	T	-0.196747	0.54955	T	0.0161752719416806	0.00392	T	0.907309	0.67223	D	0.10030298	0.23683	0.11063015	0.26677	0.10030298	0.23683	0.11063015	0.26676	-8.821	0.66538	D	.	.	0.321	0.54573	B	.;.	.;.	3.208029	0.43659	21.8	0.99815902589045236	0.89885	0.90301	0.51368	D	AEFBI	0.228973	0.35257	N	0.44057203458871	0.63670	4.605323	0.388323099863335	0.60845	4.276747	0.999969143106219	0.48965	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	5.29	0.74430	2.768000	0.47329	4.867000	0.45528	0.594000	0.32500	0.987000	0.36337	0.986000	0.30841	0.531000	0.29730	0.0:0.9331:0.0:0.0669	15.444	0.74935	899	0.25060	G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F;G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Likely benign	0	0	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	740.43	43	chr14	52038828	.	C	T	740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.923;DP=432;ExcessHet=0;FS=3.877;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.92;ReadPosRankSum=0.246;SOR=1.091	GT:AD:DP:GQ:PL	0/1:72,35:107:99:752,0,1734	9	0	1	0
chr14	52042883	52042883	C	T	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon6:c.G1478A:p.R493K	.	424	1077	20	1	0	22	0.0101103	.	.	.	702896	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.0304468616573	0.0063	0.00259585	0.0055	0.0011	0.0013	0	0.0024	0.0086	0.0033	0.0030	0.0057761	893	154602	rs111989036	0.0076	0.0076	0.0077	0.0076	0.0088	0.0075	0.0074	0.0086	0.0086	0.0010	0.0017	0.0135	0	0.0031	0.0073	0.0088	0.0068	0.0032	0.0049	0.0049	0.0053	0.0045	0.0083	0.0046	0.0045	0.0078	0.0076	0.0012	0	0.0014	0.0130	0	0.0041	0.0034	0.0083	0.0038	0.0029	0.713	0.04008	T	0.41	0.14544	T	0.036	0.20732	B	0.028	0.21332	B	0.398379	0.13159	N	0.766255	1	0.08975	N	0.665	0.16292	N	-2.2	0.86888	D	-0.55	0.16799	N	0.156	0.16168	-0.7743	0.56620	T	0.294	0.66517	T	10	0.005351484	0.00117	T	0.030447	0.52756	D	0.109	0.30843	.	.	0.543561272632	0.54008	0.16438596761333624	0.16358	0.0968026728174	0.10928	0.219821214676	0.01300	T	0.067525	0.33224	T	-0.384962	0.02898	T	-0.319209	0.42661	T	0.000374597644603621	0.00003	T	0.364964	0.08484	T	0.08498389	0.19694	0.062388107	0.12198	0.08498389	0.19694	0.062388107	0.12198	-5.213	0.39074	T	.	.	0.093	0.14015	B	.	.	1.516089	0.19470	14.28	0.4565946494951153	0.03600	0.01789	0.05595	N	AEFDGBIJ	0.097982	0.19752	N	-0.876788700375661	0.11397	0.5497405	-0.858368721566801	0.13086	0.6769452	0.999961118433219	0.48965	0.693126	0.56070	0	0.59043	0.45803	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.77	1.77	0.23848	1.354000	0.33660	1.330000	0.25662	0.594000	0.32500	0.001000	0.13787	0.001000	0.17328	0.719000	0.34739	0.1283:0.6585:0.0:0.2132	6.318	0.20409	914	0.21048	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	0	0	0	1	0	1	0	0.004032	0.000000	0.002717	0.000000	0.000000	0.000000	0.006135	0.015152	0.05	585.43	36	chr14	52042883	.	C	T	585.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.34;DP=406;ExcessHet=0;FS=0.911;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=0.4;SOR=0.69	GT:AD:DP:GQ:PL	0/1:46,27:73:99:597,0,1147	9	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	805.9	81	chr14	58213644	.	T	C	805.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.332;DP=628;ExcessHet=7.0302;FS=229.252;InbreedingCoeff=-0.531;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=1.73;SOR=10.236	GT:AD:DP:GQ:PL	0/1:53,20:73:99:127,0,1078	3	0	7	0
chr14	59521609	59521609	G	C	exonic	CCDC175	.	stopgain	CCDC175:NM_001164399:exon17:c.C2063G:p.S688X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713156	0.06269	N	1.174230	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338445	0.85730	D	0.248377	0.85542	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	6.550978	0.95390	35	0.95735350039966061	0.27682	0.04672	0.10351	N	AEFBI	0.043714	0.06945	N	0.0116059101182662	0.42383	2.552587	-0.386857324372951	0.25388	1.395867	0.127470692962769	0.17020	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.46	-0.691	0.10737	-0.050000	0.11859	1.774000	0.28659	0.676000	0.76740	0.000000	0.06391	0.096000	0.22607	0.012000	0.09680	0.3783:0.0:0.4495:0.1722	3.570	0.07465	781	0.47532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	500.43	36	chr14	59521609	.	G	C	500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.023;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.178;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,24:58:99:1|0:59521606_C_T:512,0,1275:59521606	9	0	1	0
chr14	69054144	69054144	C	T	exonic	DCAF5	.	nonsynonymous SNV	DCAF5:NM_001284206:exon9:c.G2539A:p.G847R,DCAF5:NM_001284207:exon9:c.G2296A:p.G766R,DCAF5:NM_003861:exon9:c.G2542A:p.G848R	.	.	.	.	.	.	.	.	.	.	.	2195961	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.277	0.0770020904721	.	.	2.472e-05	0	0	0	0	2.998e-05	0	6.056e-05	1.94e-05	3	154602	rs772864002	2.941e-05	2.941e-05	2.722e-05	3.163e-05	3.687e-05	2.216e-05	1.97e-05	2.743e-05	2.468e-05	0	0	0	0	0	0	3.687e-05	1.656e-05	1.159e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.205	0.27145	T	0.998	0.73220	D	0.871	0.61869	P	0.000363	0.45194	D	0.097482	0.999823	0.49512	D	1.04	0.26193	L	-0.84	0.74265	T	-1.77	0.41809	N	0.64	0.83371	-0.0608	0.80976	T	0.448	0.78366	T	10	0.45510146	0.58940	T	0.077002	0.72666	D	0.277	0.59375	0.217	0.13788	0.45509904304	0.45135	0.18738953048291465	0.18656	0.878634295547	0.69672	0.649935722351	0.59977	T	0.047153	0.27638	T	0.0658027	0.60335	T	-0.0464013	0.67268	D	0.765022873878479	0.44144	D	0.873013	0.58094	D	0.3914975	0.60138	0.42509642	0.66329	0.3914975	0.60138	0.42509642	0.66329	-3.803	0.23938	T	.	.	0.137	0.57098	B	.;.;.;.	.;.;.;.	4.379325	0.67488	25.1	0.99875856960532605	0.95328	0.96710	0.70526	D	AEFGBI	0.681467	0.64481	D	0.475924646045749	0.65688	4.854004	0.4646799999077	0.65664	4.852574	0.999999999922022	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	5.09	5.09	0.68647	5.250000	0.65252	7.737000	0.67919	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:1.0:0.0:0.0	18.689	0.91535	876	0.30350	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2248.43	33	chr14	69054144	.	C	T	2248.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.36;DP=479;ExcessHet=0;FS=2.042;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=0.112;SOR=0.568	GT:AD:DP:GQ:PL	0/1:70,81:151:99:2260,0,1618	9	0	1	0
chr14	70978397	70978397	G	A	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon6:c.G2060A:p.R687H,PCNX1:NM_014982:exon6:c.G2060A:p.R687H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0109355228331	7.7e-05	.	3.295e-05	0	0	0.0002	0	2.998e-05	0	0	2.59e-05	4	154602	rs144058686	8.209e-06	8.209e-06	6.806e-06	9.625e-06	8.961e-05	4.38e-06	3.46e-06	2.374e-05	1.258e-05	8.961e-05	0	0	7.557e-05	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03412	T	1.0	0.06386	T	0.038	0.21002	B	0.011	0.15521	B	0.005243	0.32962	N	0.360744	0.999979	0.58761	D	0.895	0.22405	L	5.62	0.00808	T	2.2	0.01387	N	0.097	0.16725	-0.4397	0.70740	T	0.002	0.00615	T	10	0.06983194	0.10075	T	0.010936	0.28041	T	0.155	0.40530	.	.	0.043077524339	0.03247	0.2589462354852953	0.25808	0.133933729564	0.15087	0.4812464118	0.36228	T	0.017891	0.14518	T	-0.396748	0.02432	T	-0.543249	0.17979	T	0.13301440237095	0.15658	T	0.927007	0.82069	D	0.04056355	0.05814	0.045513406	0.06140	0.04056355	0.05813	0.045513406	0.06140	-4.023	0.24147	T	.	.	0.089	0.13597	B	.;.	.;.	3.668784	0.52162	23.2	0.89444814098725922	0.18802	0.95856	0.66447	D	AEFGBI	0.617801	0.60385	D	-0.10009611534597	0.37387	2.174514	0.16141639929341	0.47750	3.000567	0.999999996918441	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	6.781000	0.74843	11.762000	0.95653	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	20.207	0.98282	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1714.43	41	chr14	70978397	.	G	A	1714.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.22;DP=478;ExcessHet=0;FS=3.826;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=-1.403;SOR=0.408	GT:AD:DP:GQ:PL	0/1:38,62:100:99:1726,0,918	9	0	1	0
chr14	73612782	73612782	A	G	exonic	ACOT6	.	nonsynonymous SNV	ACOT6:NM_001365788:exon1:c.A211G:p.S71G	.	460	214	444	380	24	1228	0.737745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	.	.	.	.	.	.	.	.	0.0083756	218	26028	rs12587206	0.0091	0.0085	0.0090	0.0092	0.0153	0.0089	0.0089	0.0122	0.0115	0.0013	0.0140	0.0183	0	0.0010	0.0153	0.0098	0.0088	0.0035	0.0078	0.0078	0.0079	0.0076	0.0164	0.0074	0.0073	0.0148	0.0141	0.0019	0.0110	0.0164	0.0161	0.0002	0.0006	0.0103	0.0111	0.0100	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008038133	0.00182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.924308	0.72323	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33319	B	.	.	4.117408	0.61514	24.3	0.709540416775163	0.09466	0.63410	0.32081	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999999872	0.74766	0.166803	0.03914	0	0.160126	0.03863	0	0.064036	0.01829	0	0.054758	0.00131	0	0.314155	0.35256	3.55	3.55	0.39770	1.853000	0.38998	5.725000	0.49491	0.680000	0.82399	0.955000	0.33325	1.000000	0.68203	0.491000	0.28814	0.7994:0.0:0.2005:0.0	6.141	0.19474	269	0.89438	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2673.91	31	chr14	73612782	.	A	G	2673.91	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.254;DP=293;ExcessHet=2.8549;FS=1.115;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.08;SOR=0.793	GT:AD:DP:GQ:PL	0/1:23,15:38:99:298,0,534	9	0	1	0
chr14	73713405	73713405	T	C	exonic	PNMA1	.	nonsynonymous SNV	PNMA1:NM_006029:exon1:c.A235G:p.R79G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00665737938702	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs757929953	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0002	2.9e-06	2.1e-06	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	4.496e-06	0	3.478e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.025	0.47320	D	0.058	0.46182	T	0.73	0.42641	P	0.467	0.46683	P	0.016486	0.27965	N	0.161453	0.682202	0.33245	D	1.545	0.39105	L	2.71	0.12055	T	-3.53	0.68532	D	0.668	0.67650	-1.0378	0.17985	T	0.036	0.15640	T	10	0.6473247	0.69401	D	0.006657	0.17585	T	0.158	0.41098	0.404	0.43573	0.280987212366	0.27714	0.34368446450767876	0.34282	0.414455218523	0.42127	0.709614574909	0.68538	T	0.110506	0.42525	T	-0.0331171	0.46962	T	-0.103819	0.63100	T	0.67763489484787	0.39681	D	0.767423	0.39577	T	0.29310188	0.52279	0.22056599	0.46837	0.29310188	0.52279	0.22056599	0.46836	-5.511	0.41971	T	.	.	0.156	0.34536	B	.	.	3.020584	0.40428	21.2	0.99750575950391096	0.84228	0.25832	0.22816	N	AEFDGBHCI	0.237886	0.36010	N	-0.000893265236178553	0.41815	2.507927	-0.0192564522351309	0.38846	2.294538	0.999989491104894	0.51787	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.97	1.42	0.21524	0.534000	0.22807	0.922000	0.22712	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.4188:0.5812	7.949	0.29163	416	0.81733	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1438.43	33	chr14	73713405	.	T	C	1438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.155;DP=480;ExcessHet=0;FS=0.594;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=0.92;SOR=0.628	GT:AD:DP:GQ:PL	0/1:89,67:156:99:1450,0,2553	9	0	1	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	0.05	1540.43	38	chr14	74809473	.	G	C	1540.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.239;DP=454;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=1.25;SOR=0.762	GT:AD:DP:GQ:PL	0/1:52,65:117:99:1552,0,1365	9	0	1	0
chr14	76154637	76154637	A	G	exonic	GPATCH2L	.	nonsynonymous SNV	GPATCH2L:NM_017972:exon1:c.A274G:p.M92V,GPATCH2L:NM_001322026:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322027:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322028:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322029:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322030:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322031:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322032:exon2:c.A274G:p.M92V,GPATCH2L:NM_017926:exon2:c.A274G:p.M92V	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00344021711396	0.0026	0.000399361	0.0033	0.0004	0.0008	0	0.0094	0.0048	0.0011	0.0006	0.003247	502	154602	rs149688470	0.0034	0.0034	0.0035	0.0032	0.0038	0.0033	0.0032	0.0037	0.0036	0.0004	0.0007	0.0011	0	0.0082	0.0012	0.0038	0.0023	0.0008	0.0027	0.0027	0.0025	0.0028	0.0038	0.0024	0.0024	0.0034	0.0033	0.0007	0	0.0010	0.0014	0	0.0087	0	0.0038	0.0009	0.0006	0.283	0.15354	T	0.168	0.30631	T	0.0	0.02946	B	0.0	0.01387	B	0.063322	0.22033	N	0.495587	1	0.08975	N	0.345	0.11182	N	0.99	0.42122	T	-2.53	0.54864	D	0.036	0.01274	-1.0031	0.29021	T	0.042	0.18035	T	10	0.003522098	0.00063	T	0.00344	0.07755	T	0.068	0.19811	.	.	0.209943299407	0.20609	0.09267352598221008	0.09199	0.266040754253	0.29149	0.266507744789	0.05690	T	0.091796	0.38871	T	-0.648783	0.00074	T	-0.700982	0.05773	T	0.00775653519711406	0.00091	T	0.782022	0.41734	T	0.044192888	0.07020	0.052467126	0.08650	0.044192888	0.07020	0.052467126	0.08650	-0.944	0.00992	T	.	.	0.050	0.00191	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.462952	0.08328	5.076	0.79342636390797827	0.12699	0.10129	0.15720	N	AEFDGBCI	0.047115	0.07899	N	-0.912280551624826	0.10554	0.5048776	-0.793050357247157	0.14666	0.7674522	0.999925499537747	0.46280	0.722319	0.85440	0	0.672317	0.65289	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.37	1.56	0.22423	-0.045000	0.11957	0.231000	0.16190	0.756000	0.94297	0.002000	0.15269	0.000000	0.08366	0.997000	0.79791	0.4464:0.2621:0.2915:0.0	5.206	0.14614	626	0.65439	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	2592.43	33	chr14	76154637	.	A	G	2592.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.179;DP=500;ExcessHet=0;FS=1.131;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.488;SOR=0.604	GT:AD:DP:GQ:PL	0/1:88,101:189:99:2604,0,2279	9	0	1	0
chr14	77027451	77027451	T	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	467.86	24	chr14	77027451	.	T	*	467.86	.	AC=11;AF=0.611;AN=18;DP=359;ExcessHet=5.3821;FS=3.352;InbreedingCoeff=-0.3867;MLEAC=12;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.339;SOR=0.49	GT:AD:DP:GQ:PL	1/1:0,26:26:78:1089,78,0	0	2	7	1
chr14	91294279	91294279	G	C	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon23:c.C4006G:p.H1336D	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.110703166252	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455945019	1.368e-06	1.368e-06	1.361e-06	1.375e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.027	0.55341	D	0.03	0.20002	B	0.045	0.24526	B	0.003960	0.34294	U	0.128775	1	0.81001	D	2.875	0.83380	M	0.32	0.58468	T	-4.66	0.79482	D	0.726	0.72746	-0.6888	0.60964	T	0.226	0.59121	T	10	0.52896744	0.63073	D	0.110703	0.78820	D	0.305	0.62620	0.201	0.11522	0.706536499594	0.70398	0.26293940857758624	0.26206	0.522592563707	0.49982	0.65956056118	0.61346	T	0.155347	0.49704	T	-0.0463826	0.44995	T	-0.122874	0.61566	T	0.971281170845032	0.69260	D	0.865513	0.56452	D	0.48181796	0.66010	0.6728796	0.80800	0.48181796	0.66011	0.6728796	0.80801	-15.984	0.97737	D	.	.	0.695	0.72737	P	.	.	4.201172	0.63402	24.6	0.98732710379387323	0.45378	0.97251	0.73587	D	AEFDGBCI	0.821377	0.74195	D	0.159423136233478	0.49259	3.12829	0.257915364937592	0.53102	3.480787	0.999999999999995	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	9.982000	0.99168	6.696000	0.56356	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	18.218	0.89828	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1924.43	34	chr14	91294279	.	G	C	1924.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.149;DP=442;ExcessHet=0;FS=4.407;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=1.59;SOR=0.386	GT:AD:DP:GQ:PL	0/1:52,76:128:99:1936,0,1287	9	0	1	0
chr14	94208473	94208473	A	C	exonic	PPP4R4	.	nonsynonymous SNV	PPP4R4:NM_001348145:exon3:c.A201C:p.Q67H,PPP4R4:NM_020958:exon3:c.A201C:p.Q67H,PPP4R4:NM_058237:exon3:c.A201C:p.Q67H	.	442	1076	4	0	0	4	0.00185529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.010076433821	.	0.000399361	0.0005	0	9.096e-05	0	0	7.696e-05	0	0.0031	0.0003881	60	154602	rs143912585	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0	0	0	0	0.0007	4.517e-05	0.0002	0.0027	7.227e-05	7.218e-05	6.427e-05	8.064e-05	0.0015	3.971e-05	3.127e-05	0.0007	0.0005	0	0	0	0	0	0	0	5.887e-05	0	0.0015	0.018	0.72154	D	0.014	0.92824	D	0.307	0.70673	B	0.077	0.69102	B	0.000001	0.84330	D	0.055986	0.901289	0.36178	D	2.045	0.56016	M	.	.	.	-1.94	0.51157	N	0.524	0.61596	-0.5878	0.65308	T	0.234	0.60063	T	9	0.014137387	0.00298	T	0.010076	0.26191	T	0.392	0.70764	0.351	0.34922	0.236278675362	0.23226	0.6647364679824963	0.66410	0.921292065219	0.71464	0.566585123539	0.48195	T	0.050815	0.28703	T	-0.325006	0.06495	T	-0.243928	0.50413	T	0.106766890816218	0.13085	T	0.933507	0.75104	D	0.16534679	0.36800	0.11476845	0.27704	0.16534679	0.36800	0.11476845	0.27704	-7.487	0.57519	T	.	.	0.609	0.73830	P	.;.	.;.	1.822798	0.23161	15.91	0.99690058079012467	0.79842	0.82456	0.41681	D	AEFI	0.187481	0.31477	N	0.0328206784815014	0.43352	2.629882	0.0405610413214541	0.41617	2.503369	0.102296844634711	0.16410	0.693126	0.56070	0	0.59043	0.45803	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.51	1.88	0.24630	0.556000	0.23144	0.992000	0.23199	-0.648000	0.04400	0.998000	0.41325	0.989000	0.31174	0.579000	0.30870	0.7574:0.0:0.2426:0.0	8.051	0.29736	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	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1296.43	33	chr14	94208473	.	A	C	1296.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.503;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.499;SOR=0.772	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1308,0,1317	9	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4095.04	116	chr14	94497802	.	C	T	4095.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.987;DP=1206;ExcessHet=22.563;FS=233.998;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.59;ReadPosRankSum=0.204;SOR=12.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,45:148:99:.:.:536,0,2012:.	0	0	10	0
chr14	96264403	96264403	G	A	exonic	BDKRB1	.	nonsynonymous SNV	BDKRB1:NM_000710:exon3:c.G721A:p.G241R	.	434	1052	36	0	0	36	0.0168224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	0.0025	0.00359425	0.0062	0.0003	0.0017	0	0.0029	0.0052	0.0155	0.0213	0.0053363	825	154602	rs45528332	0.0038	0.0038	0.0031	0.0044	0.0195	0.0037	0.0036	0.0188	0.0184	0.0003	0.0021	0.0120	2.519e-05	0.0018	0.0052	0.0027	0.0040	0.0195	0.0036	0.0036	0.0035	0.0037	0.0207	0.0034	0.0033	0.0174	0.0162	0.0004	0	0.0011	0.0153	0.0002	0.0018	0.0068	0.0049	0.0043	0.0207	0.1	0.30515	T	0.693	0.05863	T	0.926	0.51467	P	0.297	0.40924	B	0.254390	0.15442	N	0.633849	1	0.25321	N	0.895	0.22405	L	-0.53	0.70833	T	-0.78	0.21644	N	0.103	0.08646	-0.9401	0.42600	T	0.150	0.47717	T	10	0.004887551	0.00104	T	.	.	.	0.172	0.43662	0.523	0.62668	0.671674792424	0.66890	0.17369235007743314	0.17289	0.406064420184	0.41486	0.302673399448	0.10801	T	0.073267	0.34657	T	-0.46555	0.00907	T	-0.425251	0.30476	T	0.00979771209445082	0.00129	T	0.586341	0.21412	T	0.07508437	0.16893	0.07595928	0.16776	0.07508437	0.16893	0.07595928	0.16776	-2.949	0.09642	T	.	.	0.120	0.24733	B	.;.	.;.	2.631070	0.34213	19.56	0.99684065869996952	0.79440	0.12662	0.17404	N	AEFGBCI	.	.	.	-0.344884559445541	0.27461	1.506785	-0.347014161319572	0.26601	1.470419	0.999995329122686	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	1.354000	0.33660	1.443000	0.26543	0.676000	0.76740	0.098000	0.22752	0.949000	0.28973	0.002000	0.04165	0.1869:0.0:0.8131:0.0	7.426	0.26275	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.006793	0.000000	0.000000	0.000000	0.015244	0.030303	0.1	2292.12	34	chr14	96264403	.	G	A	2292.12	.	AC=2;AF=0.1;AN=20;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.71;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2315,204,0	9	1	0	0
chr14	104943978	104943978	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T11173A:p.S3725T,AHNAK2:NM_138420:exon7:c.T11473A:p.S3825T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00507041691968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	1.368e-06	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	0.17	0.30436	T	0.531	0.37720	P	0.215	0.37512	B	.	.	.	.	1	0.08975	N	2.36	0.67893	M	5.76	0.00695	T	-1.39	0.34397	N	0.049	0.02088	-0.9811	0.34748	T	0.004	0.01192	T	9	0.084768325	0.14240	T	0.00507	0.12846	T	0.044	0.11924	0.279	0.23323	0.0138822411134	0.00435	0.007114887581674972	0.00678	.	.	0.22748067975	0.01786	T	0.03128	0.21970	T	-0.343869	0.05124	T	-0.731721	0.04250	T	0.132090462540271	0.15574	T	0.305069	0.05837	T	0.03729235	0.04752	0.04531492	0.06070	0.03729235	0.04751	0.04531492	0.06069	-8.683	0.65635	D	.	.	0.091	0.12985	B	.	.	-0.108022	0.03593	0.702	0.44763095369072292	0.03465	0.01063	0.03945	N	AEFBI	.	.	.	-1.09147846896646	0.06799	0.3140354	-1.31031036830696	0.04296	0.2023314	0.00307342311266003	0.09909	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.53	-5.26	0.02559	-0.611000	0.05718	-11.807000	0.00574	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1879:0.4713:0.2339:0.1069	3.966	0.08924	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	158.43	320	chr14	104943978	.	A	T	158.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=3294;ExcessHet=0;FS=27.139;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.87;MQRankSum=-22.93;QD=0.3;ReadPosRankSum=-6.28;SOR=4.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:488,40:528:99:0|1:104943978_A_T:170,0,20275:104943978	9	0	1	0
chr14	104944175	104944175	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10976T:p.A3659V,AHNAK2:NM_138420:exon7:c.C11276T:p.A3759V	.	433	1058	31	0	0	31	0.0144388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.024738690492	.	.	4.977e-05	0.0001	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs762470858	3.971e-05	7.868e-05	3.542e-05	4.404e-05	0.0002	3.115e-05	2.849e-05	3.767e-05	2.755e-05	2.992e-05	0	0	0	0	0.0002	4.049e-05	6.632e-05	8.12e-05	4.058e-05	0.0014	5.287e-05	2.77e-05	0.0001	1.757e-05	1.157e-05	4.944e-05	3.19e-05	0.0001	0	0	0	0	0	0	1.489e-05	0	0	0.028	0.46129	D	0.063	0.45110	T	0.012	0.16265	B	0.01	0.14941	B	0.299966	0.03948	U	1.840710	1	0.08975	N	0.205	0.09354	N	5.83	0.00652	T	-2.56	0.55339	D	0.069	0.04188	-0.9045	0.47504	T	0.003	0.00929	T	10	0.06377372	0.08357	T	0.024739	0.47726	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.004746779182261101	0.00447	.	.	0.167820572853	0.00025	T	0.024804	0.18673	T	-0.539558	0.00337	T	-0.738514	0.03953	T	0.0586531829207644	0.06954	T	0.236476	0.03296	T	0.04050458	0.05794	0.058473505	0.10811	0.04050458	0.05794	0.058473505	0.10811	-1.868	0.02720	T	.	.	0.092	0.13362	B	.	.	-0.717969	0.01279	0.067	0.97329653179763331	0.33418	0.02806	0.07531	N	AEFBI	.	.	.	-1.08578588282399	0.06905	0.319191	-1.17118712972313	0.06395	0.3077083	1.61262701251638E-4	0.05721	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.13	-1.91	0.07225	-0.804000	0.04641	-20.000000	0.00162	-1.927000	0.00502	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5597:0.1748:0.2655:0.0	4.779	0.12563	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	.	.	.	.	.	.	.	.	0.1	1421.14	294	chr14	104944175	.	G	A	1421.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.27;DP=2826;ExcessHet=0.2348;FS=24.688;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.77;MQRankSum=-16.74;QD=1.79;ReadPosRankSum=-2.156;SOR=3.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:403,57:460:99:0|1:104944080_G_A:1180,0,16750:104944080	8	0	2	0
chr14	104944178	104944178	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10973G:p.T3658R,AHNAK2:NM_138420:exon7:c.C11273G:p.T3758R	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00946792399026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183612492	2.053e-06	3.215e-05	1.362e-06	2.752e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.996e-07	0	2.32e-05	6.766e-06	0.0012	1.322e-05	0	2.543e-05	0	0	.	.	2.543e-05	0	0	0	0	0	0	0	0	0	0.556	0.06461	T	0.654	0.06643	T	0.017	0.17573	B	0.008	0.13708	B	0.045649	0.01949	U	4.017220	1	0.08975	N	1.095	0.27400	L	4.71	0.01655	T	-0.41	0.14000	N	0.087	0.06454	-0.8847	0.49382	T	0.008	0.02679	T	10	0.055714905	0.06134	T	0.009468	0.24809	T	0.032	0.07718	0.229	0.15556	0.0138822411134	0.00435	0.004878085995868745	0.00459	.	.	0.215819358826	0.01082	T	0.020774	0.16293	T	-0.314783	0.07334	T	-0.689941	0.06392	T	0.0369846471797902	0.03153	T	0.308469	0.05950	T	0.026394365	0.01691	0.034579005	0.02549	0.026394365	0.01691	0.034579005	0.02549	-6.347	0.49094	T	.	.	0.087	0.11172	B	.	.	-0.339081	0.02450	0.281	0.62540945077157595	0.06989	0.01830	0.05681	N	AEFBI	.	.	.	-1.28187589143296	0.03893	0.1747631	-1.36185924592355	0.03668	0.1715764	1.3216691354537E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.4	-1.33	0.08693	-1.086000	0.03497	-20.000000	0.00162	-1.018000	0.01743	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0856:0.3845:0.4154:0.1145	5.487	0.16046	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	.	.	.	.	.	.	.	.	0.1	1160.14	294	chr14	104944178	.	G	C	1160.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=6.3;DP=2808;ExcessHet=0.2348;FS=24.572;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.78;MQRankSum=-16.36;QD=1.5;ReadPosRankSum=-2.416;SOR=3.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:401,52:453:99:0|1:104944080_G_A:976,0,16681:104944080	8	0	2	0
chr14	104944187	104944187	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10964T:p.A3655V,AHNAK2:NM_138420:exon7:c.C11264T:p.A3755V	.	432	1078	12	0	0	12	0.00553506	.	.	.	2371904	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00404983418982	.	0.000199681	0.0003	0.0002	0.0009	0	0	0.0004	0	6.056e-05	0.0002846	44	154602	rs201313753	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0005	0.0007	0.0006	8.969e-05	0.0008	3.827e-05	0	0	0	0.0007	0.0004	6.957e-05	0.0004	0.0012	0.0004	0.0004	0.0014	0.0003	0.0003	0.0009	0.0008	0.0003	0	0.0014	0	0.0002	0	0	0.0004	0	0	0.181	0.21884	T	0.199	0.27679	T	0.012	0.16265	B	0.005	0.11217	B	0.002864	0.35804	U	0.000000	1	0.08975	N	-0.345	0.03330	N	5.63	0.00800	T	0.37	0.03639	N	0.06	0.03175	-0.9647	0.38270	T	0.003	0.00800	T	10	0.008428931	0.00191	T	0.00405	0.09650	T	0.057	0.16321	.	.	0.0138822411134	0.00435	0.0037587487726221257	0.00351	.	.	0.184906214476	0.00148	T	0.015985	0.13301	T	-0.680879	0.00047	T	-0.801253	0.01872	T	0.0283894649983659	0.01745	T	0.533547	0.17787	T	0.014713073	0.00105	0.038435727	0.03713	0.014713073	0.00105	0.038435727	0.03713	-4.635	0.32608	T	.	.	0.108	0.20508	B	.	.	-0.017385	0.04162	1.002	0.26437583856384472	0.01266	0.01340	0.04609	N	AEFBI	.	.	.	-2.26900927051647	0.00054	0.002296346	-2.36564161484216	0.00047	0.002074123	0.925817267205096	0.26829	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.42	-6.83	0.01532	-0.839000	0.04475	0.000000	0.13247	-1.245000	0.01309	0.000000	0.06391	0.134000	0.23028	0.000000	0.00833	0.3732:0.0958:0.531:0.0	14.090	0.64511	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	0.001067	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.1	627.14	294	chr14	104944187	.	G	A	627.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.84;DP=2761;ExcessHet=0.2348;FS=36.254;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.83;MQRankSum=-15.93;QD=0.86;ReadPosRankSum=-4.47;SOR=4.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:382,38:420:99:0|1:104944080_G_A:446,0,15909:104944080	8	0	2	0
chr14	104944194	104944194	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T10957C:p.S3653P,AHNAK2:NM_138420:exon7:c.T11257C:p.S3753P	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00731332278662	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1197318890	5.481e-06	2.599e-05	4.09e-06	6.886e-06	5.814e-05	2.36e-06	1.7e-06	2.199e-05	1.433e-05	0	0	0	0	0	0	9e-07	3.318e-05	5.814e-05	1.386e-05	0.0008	2.705e-05	0	5.181e-05	2.3e-06	8.6e-07	8.58e-06	3.21e-06	5.181e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.151689	0.17947	N	0.300593	1	0.08975	N	-2.085	0.00160	N	7.46	0.00389	T	4.96	0.00024	N	0.043	0.01577	-0.9481	0.41296	T	0.000	0.00039	T	10	0.0270347	0.00857	T	0.007313	0.19388	T	0.043	0.11576	0.215	0.13498	0.0138822411134	0.00435	0.004113931293499772	0.00386	.	.	0.184603542089	0.00144	T	0.017789	0.14454	T	-0.39485	0.02502	T	-0.804951	0.01781	T	0.0168109536798652	0.00435	T	0.190581	0.02032	T	0.02428034	0.01244	0.05186767	0.08432	0.02428034	0.01243	0.05186767	0.08432	0.987	0.00134	T	.	.	0.050	0.00133	B	.	.	-1.145865	0.00588	0.015	0.11174815064700661	0.00161	0.00041	0.00340	N	AEFBI	.	.	.	-2.60678688412028	0.00009	0.0003891529	-2.53885583523578	0.00019	0.0008278324	0.0578460759033399	0.15106	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.95	-5.91	0.02080	-2.790000	0.00837	0.000000	0.13247	-1.089000	0.01541	0.000000	0.06391	0.122000	0.22912	0.001000	0.02609	0.3701:0.4332:0.1967:0.0	7.868	0.28710	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	131.43	294	chr14	104944194	.	A	G	131.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.84;DP=2725;ExcessHet=0;FS=31.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.96;MQRankSum=-15.45;QD=0.33;ReadPosRankSum=-3.803;SOR=5.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:371,30:401:99:0|1:104944080_G_A:143,0,15452:104944080	9	0	1	0
chr14	104944874	104944874	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10277T:p.P3426L,AHNAK2:NM_138420:exon7:c.C10577T:p.P3526L	.	420	1093	5	0	4	9	0.00228206	.	.	.	3398032	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.089	0.00717773312292	.	0.000399361	0.0003	0	8.639e-05	0	0	0.0001	0	0.0014	0.0002523	39	154602	rs145215748	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0017	0.0014	0	0.0003	0	2.519e-05	0.0001	0.0028	0.0002	0.0004	0.0012	0.0004	0.0004	0.0003	0.0005	0.0017	0.0003	0.0003	0.0011	0.0010	4.83e-05	0	0.0016	0	0	9.432e-05	0.0170	0.0002	0.0014	0.0017	0.007	0.59928	D	0.003	0.76473	D	0.452	0.36118	B	0.485	0.47209	P	.	.	.	.	1	0.22374	N	2.785	0.81254	M	4.06	0.03063	T	-6.65	0.92260	D	0.213	0.23758	-1.1144	0.02718	T	0.040	0.17020	T	9	0.026627868	0.00825	T	0.007178	0.19034	T	0.089	0.25827	0.386	0.40624	0.168933306366	0.16529	0.01345587056858095	0.01303	.	.	0.242528811097	0.03022	T	0.074956	0.35064	T	-0.496136	0.00601	T	-0.51552	0.20750	T	0.109174804049841	0.13337	T	0.70163	0.31127	T	0.13324913	0.30999	0.12588571	0.30325	0.13324913	0.30999	0.12588571	0.30324	-7.383	0.56785	T	.	.	0.096	0.15251	B	.	.	2.331505	0.29866	18.26	0.9854428778979144	0.42757	0.05069	0.10862	N	AEFDBI	.	.	.	-0.587738883261028	0.19315	1.009982	-0.78553642721825	0.14850	0.7780467	6.54726971967449E-4	0.07551	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.56	2.67	0.30756	2.914000	0.48495	0.814000	0.21781	0.612000	0.49041	0.468000	0.26706	0.002000	0.18203	0.001000	0.02609	0.0:0.0:0.7939:0.2061	9.800	0.39925	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	0	0	1	0	.	.	.	.	.	.	.	.	0.05	4929.43	307	chr14	104944874	.	G	A	4929.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.45;DP=2728;ExcessHet=0;FS=1.264;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.9;MQRankSum=-1.023;QD=13.85;ReadPosRankSum=-0.225;SOR=0.625	GT:AD:DP:GQ:PL	0/1:183,173:356:99:4941,0,6773	9	0	1	0
chr14	104944899	104944899	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G10252A:p.A3418T,AHNAK2:NM_138420:exon7:c.G10552A:p.A3518T	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0008	0.00339457	0.0010	0.0025	0.0022	0.0001	0.0003	0.0006	0.0011	0.0020	0.0009832	152	154602	rs193275879	0.0007	0.0010	0.0006	0.0008	0.0038	0.0007	0.0007	0.0026	0.0022	0.0019	0.0020	0	0.0002	0.0005	0.0038	0.0005	0.0011	0.0021	0.0017	0.0030	0.0017	0.0018	0.0056	0.0016	0.0015	0.0046	0.0042	0.0020	0	0.0056	0	0.0011	0.0004	0.0188	0.0008	0.0040	0.0033	0.272	0.15930	T	0.58	0.08505	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.62	0.02180	N	5.76	0.00695	T	0.33	0.03889	N	0.038	0.01203	-0.9338	0.43575	T	0.001	0.00348	T	9	0.0041909516	0.00083	T	.	.	.	0.007	0.00512	.	.	0.0138822411134	0.00435	0.004001890157106296	0.00375	.	.	0.215279042721	0.01055	T	0.018741	0.15056	T	-0.773442	0.00012	T	-0.88994	0.00576	T	0.00284316309725517	0.00030	T	0.40156	0.10241	T	0.012512493	0.00035	0.04563651	0.06183	0.012512493	0.00035	0.04563651	0.06182	-0.23	0.00441	T	.	.	0.066	0.02257	B	.	.	-1.858813	0.00138	0.002	0.58479526046595143	0.06003	0.00558	0.02546	N	AEFGBI	.	.	.	-1.79531529085884	0.00556	0.02397756	-1.83141658487462	0.00664	0.02952255	0.00534024057733337	0.10904	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.08	-4.86	0.02902	-2.659000	0.00924	-20.000000	0.00162	-0.859000	0.02647	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7193:0.1422:0.1384	10.467	0.43800	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	0.007198	0.017442	0.012295	0.004167	0.000000	0.000000	0.000000	0.000000	0.05	7114.43	307	chr14	104944899	.	C	T	7114.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.719;DP=2763;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=-0.974;QD=18.43;ReadPosRankSum=-1.37;SOR=0.702	GT:AD:DP:GQ:PL	0/1:189,197:386:99:7126,0,5044	9	0	1	0
chr14	104949915	104949915	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5236C:p.V1746L,AHNAK2:NM_138420:exon7:c.G5536C:p.V1846L	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00319830884034	0.0004	0.00119808	0.0003	0.0027	0.0004	0.0001	0	3.035e-05	0	0.0002	0.0002975	46	154602	rs372488743	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0022	0.0020	0.0026	0.0003	0	5.039e-05	0	0	6.379e-05	0.0003	7.019e-05	0.0009	0.0009	0.0009	0.0009	0.0028	0.0007	0.0007	0.0024	0.0022	0.0028	0	6.859e-05	0	0.0008	0	0	9.047e-05	0.0015	0.0006	1.0	0.00964	T	0.958	0.02562	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.675	0.16386	N	5.44	0.00979	T	0.62	0.02442	N	0.032	0.00825	-0.9251	0.44844	T	0.002	0.00676	T	9	0.0060581565	0.00136	T	0.003198	0.07026	T	0.011	0.01250	0.208	0.12497	0.0138822411134	0.00435	0.005942077431607328	0.00563	.	.	0.232460722327	0.02155	T	0.015697	0.13114	T	-0.696352	0.00038	T	-0.775143	0.02603	T	0.00209278565339374	0.00022	T	0.492651	0.15191	T	0.027752869	0.02013	0.0362239	0.03027	0.027752869	0.02012	0.0362239	0.03027	-8.084	0.61641	D	.	.	0.178	0.38782	B	.	.	-0.943069	0.00856	0.030	0.12012696699281185	0.00197	0.03849	0.09203	N	AEFBI	.	.	.	-1.46246045480056	0.02121	0.0933042	-1.47044462695258	0.02590	0.1193756	9.56943912249564E-5	0.04910	0.67177	0.52595	0	0.588015	0.36545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.12	-0.408	0.11764	-1.409000	0.02589	-13.697000	0.00444	-1.897000	0.00527	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4046:0.5061:0.0893	9.335	0.37204	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	2354.43	669	chr14	104949915	.	C	G	2354.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.5;DP=3588;ExcessHet=0;FS=5.96;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.91;MQRankSum=-6.129;QD=6.12;ReadPosRankSum=0.897;SOR=0.46	GT:AD:DP:GQ:PL	0/1:278,107:385:99:2366,0,7559	9	0	1	0
chr14	104950410	104950410	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G4741C:p.V1581L,AHNAK2:NM_138420:exon7:c.G5041C:p.V1681L	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00973767702888	.	0.000199681	2.521e-05	0.0001	0	0	0	1.517e-05	0	6.125e-05	2.59e-05	4	154602	rs201340294	8.33e-06	1.103e-05	9.673e-06	6.974e-06	6.03e-05	4.44e-06	3.51e-06	1.596e-05	9.39e-06	6.03e-05	0	0	0	0	0	3.647e-06	3.359e-05	4.696e-05	4.092e-05	4.672e-05	6.647e-05	1.4e-05	0.0001	1.769e-05	1.165e-05	3.347e-05	1.98e-05	0.0001	0	6.879e-05	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.12	0.32230	B	.	.	.	.	1	0.18198	N	0.245	0.09735	N	4.99	0.01332	T	0.25	0.04456	N	0.038	0.01203	-0.8922	0.48740	T	0.003	0.01026	T	9	0.023446828	0.00613	T	0.009738	0.25427	T	0.027	0.05988	0.16	0.06396	0.0138822411134	0.00435	0.002769478969881453	0.00257	.	.	0.222423136234	0.01454	T	0.015279	0.12850	T	-0.507211	0.00521	T	-0.784203	0.02329	T	0.0432517694809705	0.04284	T	0.516048	0.16641	T	0.03305123	0.03447	0.030471666	0.01508	0.03305123	0.03447	0.030471666	0.01508	-8.401	0.63772	D	.	.	0.142	0.31253	B	.	.	-1.057321	0.00693	0.020	0.14622675033592111	0.00329	0.02512	0.07007	N	AEFBI	.	.	.	-1.64159329193304	0.01071	0.04647693	-1.73696083434686	0.00983	0.04405563	0.00475530842986958	0.10700	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.97	-5.81	0.02148	-2.686000	0.00905	-13.511000	0.00454	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1196:0.2724:0.3702:0.2378	2.251	0.03797	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	3543.43	326	chr14	104950410	.	C	G	3543.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.26;DP=2820;ExcessHet=0;FS=25.048;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.92;MQRankSum=-10.34;QD=10.58;ReadPosRankSum=-5.143;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,107:335:99:0|1:104950378_A_G:3555,0,8982:104950378	9	0	1	0
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	.	.	.	.	.	.	.	.	0.05	34.43	85	chr14	104952240	.	G	C	34.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.155;DP=1305;ExcessHet=0;FS=54.784;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.08;MQRankSum=-14.49;QD=0.15;ReadPosRankSum=-5.373;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,16:224:46:0|1:104952198_C_G:46,0,8627:104952198	9	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	330.53	38	chr15	20534613	.	C	*	330.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.318;DP=776;ExcessHet=7.0302;FS=3.819;InbreedingCoeff=-0.538;MLEAC=4;MLEAF=0.2;MQ=53.59;MQRankSum=0.13;QD=0.56;ReadPosRankSum=1.28;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,13:56:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:369,0,1715:20534604	6	0	4	0
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	492.44	26	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	492.44	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.2;DP=732;ExcessHet=4.5998;FS=5.412;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=51.5;MQRankSum=2.32;QD=1.26;ReadPosRankSum=0.05;SOR=0.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,13:35:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:400,0,1413:20534604	6	0	4	0
chr15	20534636	20534636	C	0	exonic	GOLGA6L6	.	.	.	.	491	642	369	8	12	397	0.230677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	140.44	26	chr15	20534636	.	C	*	140.44	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.554;DP=697;ExcessHet=7.0302;FS=2.644;InbreedingCoeff=-0.5385;MLEAC=6;MLEAF=0.3;MQ=52.8;MQRankSum=1.45;QD=0.34;ReadPosRankSum=-2.568;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,5:35:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:145,0,1044:20534604	4	0	6	0
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	439.07	23	chr15	20534647	.	C	*	439.07	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.7;DP=659;ExcessHet=2.8389;FS=2.002;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.2;MQ=54.15;MQRankSum=-0.327;QD=1.44;ReadPosRankSum=-1.348;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,5:35:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:145,0,1044:20534604	6	0	4	0
chr15	20534648	20534648	G	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	46.66	22	chr15	20534648	.	G	*	46.66	.	AC=4;AF=0.222;AN=18;BaseQRankSum=2.85;DP=628;ExcessHet=2.8389;FS=1.057;InbreedingCoeff=-0.3798;MLEAC=4;MLEAF=0.222;MQ=52.47;MQRankSum=-0.616;QD=0.15;ReadPosRankSum=-1.461;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,5:35:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:145,0,1044:20534604	5	0	4	1
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	325.26	19	chr15	20534663	.	G	*	325.26	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.61;DP=602;ExcessHet=2.8389;FS=4.134;InbreedingCoeff=-0.355;MLEAC=4;MLEAF=0.2;MQ=51.5;MQRankSum=1.19;QD=1.05;ReadPosRankSum=-3.135;SOR=0.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,5:35:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:145,0,1044:20534604	6	0	4	0
chr15	20534667	20534667	C	0	exonic	GOLGA6L6	.	.	.	.	584	671	32	1	234	268	0.0247093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	294.26	18	chr15	20534667	.	C	*	294.26	.	AC=4;AF=0.2;AN=20;BaseQRankSum=3.06;DP=595;ExcessHet=2.8389;FS=4.186;InbreedingCoeff=-0.355;MLEAC=4;MLEAF=0.2;MQ=51.27;MQRankSum=0.972;QD=0.95;ReadPosRankSum=-3.043;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,5:35:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:145,0,1044:20534604	6	0	4	0
chr15	20534668	20534670	CTT	0	exonic	GOLGA6L6	.	.	.	.	594	661	33	1	233	268	0.0257922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	260.88	18	chr15	20534668	.	CTT	*	260.88	.	AC=4;AF=0.222;AN=18;BaseQRankSum=3.11;DP=585;ExcessHet=2.8389;FS=3.461;InbreedingCoeff=-0.4026;MLEAC=4;MLEAF=0.222;MQ=51.13;MQRankSum=0.72;QD=0.84;ReadPosRankSum=-2.27;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,5:35:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:145,0,1044:20534604	5	0	4	1
chr15	20534672	20534672	T	0	exonic	GOLGA6L6	.	.	.	.	554	704	31	1	232	265	0.0229008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	160.14	18	chr15	20534672	.	T	*	160.14	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.99;DP=547;ExcessHet=2.8389;FS=2.258;InbreedingCoeff=-0.341;MLEAC=4;MLEAF=0.2;MQ=48.12;MQRankSum=-0.202;QD=0.53;ReadPosRankSum=-2.418;SOR=0.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,5:35:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:145,0,1044:20534604	6	0	4	0
chr15	20534676	20534676	C	0	exonic	GOLGA6L6	.	.	.	.	520	770	224	4	4	236	0.130926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	122.3	13	chr15	20534676	.	C	*	122.3	.	AC=4;AF=0.25;AN=16;BaseQRankSum=1.18;DP=520;ExcessHet=2.8389;FS=2.964;InbreedingCoeff=-0.4288;MLEAC=5;MLEAF=0.313;MQ=48.9;MQRankSum=-0.109;QD=0.4;ReadPosRankSum=1.75;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,5:35:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:145,0,1044:20534604	4	0	4	2
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	258.08	13	chr15	20534684	.	G	*	258.08	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.265;DP=508;ExcessHet=2.8389;FS=5.277;InbreedingCoeff=-0.3337;MLEAC=4;MLEAF=0.2;MQ=46.37;MQRankSum=-1.226;QD=0.84;ReadPosRankSum=0.041;SOR=0.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,5:35:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:145,0,1044:20534604	6	0	4	0
chr15	21652117	21652117	A	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.A234C:p.L78F	.	465	768	265	24	0	313	0.169281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.738e-06	0.0002	4.777e-06	8.48e-06	8.749e-05	1.79e-06	5e-07	.	.	8.749e-05	0	7.657e-05	0	0	0	3.89e-06	0	0	8.705e-06	0.0001	0	1.8e-05	3.488e-05	0	0	.	.	3.488e-05	0	0	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000108	0.50451	N	0.000000	0.99988	0.19925	P	.	.	.	.	.	.	.	.	.	0.182	0.19728	-1.0434	0.16294	T	0.000	0.00011	T	9	0.0018065572	0.00024	T	.	.	.	.	.	0.381	0.39807	.	.	0.040043207446890695	0.03950	.	.	0.311506986618	0.12134	T	.	.	.	-0.674746	0.00051	T	-0.598182	0.12964	T	0.00326191471079691	0.00034	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	-0.124	0.00396	T	.	.	0.073	0.04599	B	.;.	.;.	0.850845	0.12232	8.774	0.66924304402247636	0.08201	0.00687	0.02939	N	AEI	.	.	.	-1.62473285776486	0.01146	0.04979641	-1.44264627457213	0.02837	0.1312614	5.3174549639366E-4	0.07248	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.24	2.28	0.27583	-1.083000	0.03507	-0.079000	0.12201	-0.781000	0.03322	0.002000	0.15269	0.160000	0.23254	0.175000	0.21139	0.3717:0.6283:0.0:0.0	9.685	0.39261	.	.	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	.	.	.	.	.	.	.	.	0.15	2693.45	44	chr15	21652117	.	A	C	2693.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.257;DP=512;ExcessHet=0.7463;FS=1.551;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=27.93;MQRankSum=0.588;QD=10.48;ReadPosRankSum=-0.645;SOR=0.587	GT:AD:DP:GQ:PL	0/1:88,51:139:99:1134,0,2146	7	0	3	0
chr15	21652190	21652190	C	T	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C307T:p.L103F	.	442	748	311	21	0	353	0.190914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.129e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	0.261126	0.15312	N	0.485335	0.999366	0.21303	P	.	.	.	.	.	.	.	.	.	0.103	0.08646	-0.9711	0.36967	T	0.000	0.00011	T	9	0.0015220642	0.00017	T	.	.	.	.	.	.	.	.	.	0.030007910357616414	0.02949	.	.	0.290178626776	0.08949	T	.	.	.	-0.66378	0.00060	T	-0.582431	0.14328	T	0.000522953042824942	0.00004	T	0.540346	0.18307	T	.	.	.	.	.	.	.	.	-5.352	0.40455	T	.	.	0.093	0.14062	B	.;.	.;.	1.025571	0.14055	10.62	0.93500601886041435	0.23307	0.07624	0.13632	N	AEFCI	.	.	.	-0.844437362999696	0.12186	0.5925257	-0.887036193530605	0.12400	0.6376486	3.35547801273524E-4	0.06583	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	0.085	0.13749	-0.579000	0.05927	-1.581000	0.05125	0.268000	0.18485	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.0:0.3722:0.2141:0.4137	3.269	0.06470	.	.	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	.	.	.	.	.	.	.	.	0.15	4672.45	45	chr15	21652190	.	C	T	4672.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=5.18;DP=794;ExcessHet=0.7463;FS=3.219;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=32.36;MQRankSum=-0.274;QD=9.94;ReadPosRankSum=0.342;SOR=0.671	GT:AD:DP:GQ:PL	0/1:148,85:233:99:1832,0,3659	7	0	3	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	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	.	.	.	.	.	.	.	.	0.15	7009.45	45	chr15	21652283	.	G	C	7009.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.403;DP=748;ExcessHet=0.7463;FS=1.126;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=32.75;MQRankSum=-0.654;QD=16.26;ReadPosRankSum=0.351;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,73:206:99:0|1:21652283_G_C:2566,0,5167:21652283	7	0	3	0
chr15	21652290	21652290	C	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C407A:p.A136D	.	445	758	303	16	0	335	0.180983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325108497	7.359e-05	0.0001	5.407e-05	9.171e-05	0.0002	5.914e-05	5.388e-05	9.719e-05	7.073e-05	4.42e-05	0.0002	0	0	0	0	7.582e-05	0.0001	6.801e-05	8.658e-05	0.0002	7.449e-05	9.95e-05	0.0003	4.464e-05	3.34e-05	7.618e-05	4.051e-05	7.641e-05	0	0.0003	0	0	0	0	2.089e-05	0.0021	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000167	0.48594	D	0.000000	0.0199557	0.39625	P	.	.	.	.	.	.	.	.	.	0.631	0.64478	-0.9692	0.37366	T	0.000	0.00114	T	9	0.002110511	0.00030	T	.	.	.	.	.	.	.	.	.	0.4398908667552438	0.43906	.	.	0.395352125168	0.24421	T	.	.	.	-0.179371	0.23830	T	0.113389	0.77796	D	0.0805372903841944	0.10055	T	0.976052	0.91638	D	.	.	.	.	.	.	.	.	-13.572	0.91582	D	.	.	0.411	0.60193	A	.;.	.;.	4.705929	0.75548	26.4	0.99729135027837246	0.82619	0.93345	0.57969	D	AEFHCI	.	.	.	0.668177313905204	0.77549	6.696248	0.481736136598001	0.66782	4.996887	0.99991764154766	0.45857	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.696000	0.61460	5.281000	0.48180	0.268000	0.18485	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	12.276	0.54051	.	.	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	.	.	.	.	.	.	.	.	0.15	6840.45	45	chr15	21652290	.	C	A	6840.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.047;DP=731;ExcessHet=0.7463;FS=2.52;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=32.6;MQRankSum=-0.426;QD=16.36;ReadPosRankSum=0.36;SOR=0.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,70:199:99:0|1:21652283_G_C:2511,0,5089:21652283	7	0	3	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	0.95	18756.2	63	chr15	22081297	.	T	C	18756.2	.	AC=19;AF=0.95;AN=20;BaseQRankSum=7.91;DP=859;ExcessHet=0;FS=81.645;InbreedingCoeff=-0.0526;MLEAC=19;MLEAF=0.95;MQ=36.89;MQRankSum=-2.175;QD=23.98;ReadPosRankSum=1.65;SOR=5.13	GT:AD:DP:GQ:PL	1/1:0,91:91:99:2981,274,0	0	9	1	0
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	48.17	3	chr15	22768302	.	T	*	48.17	.	AC=3;AF=0.188;AN=16;BaseQRankSum=0.967;DP=23;ExcessHet=0.0673;FS=0;MLEAC=3;MLEAF=0.188;MQ=49.73;MQRankSum=-1.383;QD=6.88;ReadPosRankSum=-1.383;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,1:2:21:0|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:21,0,38:22768260	6	1	1	2
chr15	22769365	22769366	CT	0	exonic	GOLGA6L7	.	.	.	.	712	800	2	7	1	17	0.00990099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	118.81	2	chr15	22769365	.	CT	*	118.81	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-0.674;DP=50;ExcessHet=0;FS=3.31;MLEAC=5;MLEAF=0.278;MQ=52.79;MQRankSum=-0.831;QD=6.99;ReadPosRankSum=-0.475;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,4:4:13:.:.:149,13,0:.	6	2	1	1
chr15	22769368	22769388	CCGCATCTGCTCCTCCTGCTT	0	exonic	GOLGA6L7	.	.	.	.	718	794	2	7	1	17	0.00997506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	119.3	5	chr15	22769368	.	CCGCATCTGCTCCTCCTGCTT	*	119.3	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.674;DP=50;ExcessHet=0;FS=3.31;MLEAC=3;MLEAF=0.188;MQ=49.16;MQRankSum=-0.831;QD=7.95;ReadPosRankSum=-0.475;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,4:4:13:.:.:149,13,0:.	6	1	1	2
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14334.1	129	chr15	23440492	.	C	*	14334.1	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.467;DP=1215;ExcessHet=0;FS=0.964;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=58.42;MQRankSum=-0.924;QD=12.2;ReadPosRankSum=0.063;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:33,32:98:15:.:.:1130,15,1700:.	0	0	10	0
chr15	28384419	28384419	G	A	exonic	GOLGA8F;GOLGA8G	.	stopgain	GOLGA8G:NM_001368078:exon9:c.G140A:p.W47X,GOLGA8G:NM_001368080:exon9:c.G140A:p.W47X,GOLGA8G:NM_001350919:exon10:c.G794A:p.W265X,GOLGA8F:NM_001350920:exon10:c.G758A:p.W253X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.195e-05	4.667e-06	2.659e-05	0	4.702e-05	1.99e-06	7.4e-07	7.79e-06	2.92e-06	0	0	0	0	0	0	4.702e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.179	0.19325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483052	0.93807	D	0.456094	0.93729	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	6.102117	0.94564	34	0.982066805175278	0.39175	0.76357	0.37442	D	AEFI	0.025613	0.01785	N	.	.	.	.	.	.	3.27029727892107E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.647	0.647	0.16968	6.013000	0.70431	8.388000	0.77079	0.222000	0.18087	1.000000	0.71638	1.000000	0.68203	0.035000	0.13729	1.0E-4:0.0:0.9999:0.0	7.119	0.24609	423	0.81269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	629.94	22	chr15	28384419	.	G	A	629.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.16;DP=110;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=36.54;MQRankSum=-0.555;QD=33.15;ReadPosRankSum=-1.553;SOR=4.514	GT:AD:DP:GQ:PL	1/1:1,18:19:15:647,15,0	5	1	0	4
chr15	33153747	33153747	G	A	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon4:c.C1168T:p.R390W,FMN1:NM_001277314:exon4:c.C1168T:p.R390W	.	425	1081	14	2	0	18	0.00825688	.	.	.	1457925	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0150364903957	.	0.000399361	0.0006	0	0	0	0	0.0013	0	0.0004	0.0001294	20	154602	rs144328486	0.0005	0.0005	0.0005	0.0006	0.0146	0.0005	0.0005	0.0120	0.0111	0.0005	0.0012	0.0003	2.798e-05	2.947e-05	0.0146	0.0004	0.0012	0.0008	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0005	0.0004	0.0003	0	0.0008	0.0003	0	0	0.0068	0.0005	0.0038	0.0006	0.002	0.72154	D	0.018	0.65728	D	.	.	.	.	.	.	0.061616	0.22159	N	0.336013	.	.	.	0.345	0.11182	N	0.88	0.46028	T	-2.39	0.52612	N	0.189	0.24883	-0.8788	0.49856	T	0.081	0.31943	T	8	0.023217082	0.00601	T	0.015036	0.35538	T	0.074	0.21613	.	.	0.548571244948	0.54512	0.06263845914463202	0.06203	.	.	0.210625976324	0.00838	T	0.274527	0.64702	T	-0.452316	0.01095	T	-0.488617	0.23535	T	0.0337495431303978	0.02596	T	.	.	.	0.10736155	0.25386	0.15047814	0.35488	0.10736155	0.25386	0.15047814	0.35487	-5.954	0.46869	T	.	.	0.081	0.17911	B	.;.;.;.	.;.;.;.	3.919247	0.57202	23.8	0.99894743611932291	0.96819	0.94694	0.62009	D	AEFBI	0.439958	0.49871	N	0.155373536887906	0.49066	3.111252	0.188358737837696	0.49208	3.126835	0.999992957311888	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.46	4.53	0.55009	2.462000	0.44706	4.808000	0.45020	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.240000	0.23001	0.0:0.1326:0.7299:0.1375	11.790	0.51339	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2846.43	33	chr15	33153747	.	G	A	2846.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.056;DP=584;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.233;SOR=0.688	GT:AD:DP:GQ:PL	0/1:110,118:228:99:2858,0,2561	9	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	.	.	.	.	.	.	.	.	0.15	142.46	33	chr15	41096253	.	G	C	142.46	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.87;DP=572;ExcessHet=0.7463;FS=231.403;InbreedingCoeff=-0.1538;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.13;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,21:92:97:0|1:41096253_G_C:97,0,1928:41096253	7	0	3	0
chr15	41505926	41505926	C	T	exonic	LTK	.	nonsynonymous SNV	LTK:NM_206961:exon11:c.G1438A:p.V480I,LTK:NM_002344:exon12:c.G1621A:p.V541I	.	397	1119	6	0	0	6	0.0026738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.684	0.0471927391127	0.0012	0.000399361	0.0013	0.0002	0.0004	0	0.0018	0.0020	0	0	0.001229	190	154602	rs144319704	0.0013	0.0013	0.0013	0.0012	0.0014	0.0012	0.0012	0.0012	0.0011	2.987e-05	0.0008	0.0119	0	0.0008	0.0014	0.0012	0.0016	3.479e-05	0.0012	0.0012	0.0012	0.0012	0.0016	0.0010	0.0010	0.0013	0.0012	0.0002	0	0.0003	0.0130	0	0.0009	0	0.0016	0.0019	0	0.019	0.53900	D	0.005	0.72224	D	0.996	0.68779	D	0.922	0.70672	D	0.007448	0.31390	U	0.000000	1	0.81001	D	2.735	0.79925	M	-2.42	0.88611	D	-0.93	0.24898	N	0.449	0.55626	0.874	0.95333	D	0.837	0.94560	D	10	0.012692004	0.00272	T	0.047193	0.62810	D	0.684	0.88443	.	.	0.833424145843	0.83183	0.13691158332110695	0.13615	0.488308427124	0.47636	0.365865945816	0.20237	T	0.309446	0.72750	T	-0.153811	0.27718	T	-0.0290935	0.68428	D	0.0592762273416298	0.07053	T	0.908809	0.73814	D	0.2503465	0.48036	0.19271381	0.42801	0.2503465	0.48036	0.19271381	0.42800	-8.573	0.66270	D	.	.	0.306	0.56218	B	.;.;.	.;.;.	4.017165	0.59304	24.1	0.9988953304992908	0.96359	0.90939	0.52548	D	AEFDGBHCI	0.797683	0.72445	D	0.808156823627318	0.86614	8.942	0.74728906597532	0.85955	8.73721	0.999999999999928	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.596491	0.31596	0	0.586402	0.36253	0	.	.	4.9	4.9	0.63643	7.644000	0.82556	2.813000	0.34919	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	17.901	0.88819	200	0.92234	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Tyrosine-protein kinase, 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	.	.	.	.	.	.	.	.	0.1	2615.14	103	chr15	41505926	.	C	T	2615.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.828;DP=510;ExcessHet=0.2348;FS=0.502;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.225;SOR=0.754	GT:AD:DP:GQ:PL	0/1:67,51:118:99:1194,0,1697	8	0	2	0
chr15	42417393	42417393	G	C	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	0.0001	0	5.513e-06	3.606e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.606e-06	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	.	.	.	.	.	.	.	.	0.1111	444.47	69	chr15	42417393	.	G	C	444.47	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.36;DP=504;ExcessHet=1.5895;FS=199.83;InbreedingCoeff=-0.3005;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=1.27;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,12:62:18:0|1:42417393_G_C:18,0,1752:42417393	7	0	2	1
chr15	43203222	43203222	C	T	exonic	EPB42	.	nonsynonymous SNV	EPB42:NM_000119:exon11:c.G1762A:p.E588K,EPB42:NM_001114134:exon11:c.G1672A:p.E558K	Spherocytosis, type 5	.	.	.	.	.	.	.	.	.	.	703214	not_provided|Hereditary_spherocytosis_type_5	MedGen:C3661900|MONDO:MONDO:0012985,MedGen:C2675192,OMIM:612690,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	0.00733692983321	0.0025	0.000998403	0.0005	0.0054	8.639e-05	0.0001	0	4.495e-05	0	0	0.0004592	71	154602	rs75424023	0.0002	0.0002	0.0002	0.0002	0.0060	0.0002	0.0002	0.0053	0.0050	0.0060	0.0002	0	7.557e-05	1.872e-05	0	4.227e-05	0.0002	5.797e-05	0.0012	0.0012	0.0013	0.0011	0.0041	0.0010	0.0010	0.0036	0.0034	0.0041	0	0.0002	0	0	0	0	7.354e-05	0.0014	0	0.08	0.33585	T	0.06	0.45744	T	0.676	0.42412	P	0.076	0.32546	B	0.041881	0.23902	N	0.476023	0.99938	0.21275	N	2.215	0.62545	M	1.31	0.35405	T	-2.79	0.59059	D	0.36	0.41459	-1.0545	0.13172	T	0.040	0.17191	T	10	0.0074884295	0.00170	T	0.007337	0.19469	T	0.024	0.04979	.	.	0.279370189704	0.27548	0.7350089276239322	0.73445	.	.	0.382435381413	0.22602	T	0.389626	0.75001	T	-0.481845	0.00721	T	-0.464098	0.26153	T	0.0100504414322711	0.00135	T	0.865813	0.56549	D	0.13628484	0.31599	0.16645329	0.38454	0.13628484	0.31599	0.16645329	0.38453	-5.408	0.40996	T	0.33819964212153153	0.43606	0.104	0.18663	B	.;.;.;.;.	.;.;.;.;.	1.788566	0.22740	15.74	0.99219969507383554	0.55870	0.04874	0.10615	N	AEFBCI	0.091686	0.18569	N	-0.544844751481857	0.20646	1.089876	-0.61093982256212	0.19212	1.029776	0.769757097374112	0.23652	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.94	1.97	0.25278	0.147000	0.16021	2.115000	0.30684	0.599000	0.40250	0.025000	0.20085	0.972000	0.29809	0.776000	0.36750	0.0:0.6224:0.182:0.1956	4.621	0.11837	17	0.98681	.;.;Transglutaminase, C-terminal;Transglutaminase, 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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	4268.14	172	chr15	43203222	.	C	T	4268.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.98;DP=598;ExcessHet=0.2348;FS=4.348;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.367;SOR=0.505	GT:AD:DP:GQ:PL	0/1:77,71:148:99:1814,0,1759	8	0	2	0
chr15	43276517	43276517	T	C	exonic	TGM7	.	nonsynonymous SNV	TGM7:NM_052955:exon13:c.A2071G:p.N691D	.	427	1060	32	3	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0110741932648	0.0013	0.000599042	0.0018	0.0003	0.0007	0	0	0.0013	0.0033	0.0070	0.0015912	246	154602	rs148274809	0.0012	0.0012	0.0009	0.0015	0.0074	0.0012	0.0011	0.0069	0.0067	0.0001	0.0006	0.0072	0	1.872e-05	0.0049	0.0007	0.0016	0.0074	0.0009	0.0009	0.0007	0.0012	0.0066	0.0008	0.0008	0.0048	0.0042	4.812e-05	0	0.0005	0.0075	0	0	0	0.0010	0.0024	0.0066	0.186	0.21467	T	0.79	0.04194	T	0.003	0.11197	B	0.007	0.12992	B	0.336328	0.14033	N	0.687321	0.950522	0.26502	N	0.94	0.23649	L	-0.19	0.65931	T	-0.05	0.07736	N	0.125	0.11769	-0.9927	0.31906	T	0.122	0.42441	T	10	0.008257538	0.00187	T	0.011074	0.28311	T	0.057	0.16321	.	.	0.504541157375	0.50091	0.20277597614394124	0.20194	0.125134286109	0.14108	0.292968094349	0.09356	T	0.002334	0.01729	T	-0.513387	0.00480	T	-0.505936	0.21734	T	0.00804675839246853	0.00095	T	0.50325	0.15827	T	0.06925533	0.15157	0.11332693	0.27349	0.06925533	0.15157	0.11332693	0.27348	-4.53	0.31279	T	.	.	0.066	0.02145	B	.	.	2.028569	0.25781	16.89	0.99122840336513984	0.53037	0.75492	0.36965	D	AEFGBI	0.186831	0.31413	N	-0.556584102761625	0.20277	1.067798	-0.392685172500893	0.25214	1.385265	0.996622662179455	0.34876	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.47	3.3	0.36912	1.317000	0.33237	0.629000	0.20209	0.609000	0.47794	0.957000	0.33433	0.428000	0.24841	0.993000	0.69303	0.0:0.0963:0.0:0.9037	8.539	0.32540	15	0.98792	Transglutaminase, 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	0.006546	0.000000	0.002717	0.005848	0.000000	0.025862	0.009146	0.007576	0.1	2844.14	106	chr15	43276517	.	T	C	2844.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.589;DP=487;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.227;SOR=0.686	GT:AD:DP:GQ:PL	0/1:41,65:106:99:1616,0,983	8	0	2	0
chr15	43328770	43328770	A	G	exonic	LCMT2	.	nonsynonymous SNV	LCMT2:NM_014793:exon1:c.T1720C:p.W574R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.119139338333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.023	0.57104	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999987	0.81001	D	2.995	0.85803	M	-1.56	0.81815	D	-4.07	0.74661	D	0.74	0.74007	0.112	0.84384	D	0.639	0.87360	D	10	0.8170707	0.80937	D	0.119139	0.79936	D	0.798	0.93385	0.611	0.74418	0.811391519615	0.80961	0.8167274304381671	0.81628	0.888851575013	0.70127	0.669919312	0.62826	T	0.313041	0.68482	T	0.398537	0.89830	D	0.334695	0.89702	D	0.992910087108612	0.83527	D	0.381762	0.09261	T	0.7278842	0.79604	0.6344337	0.78663	0.7278842	0.79606	0.6344337	0.78663	-8.643	0.65372	D	.	.	0.965	0.88679	P	.	.	4.964063	0.82096	27.7	0.9957431335035144	0.72621	0.95960	0.66903	D	AEFBCI	0.739003	0.68370	D	0.630056224660624	0.75084	6.243875	0.629511176830476	0.77093	6.613429	0.999999998511047	0.74766	0.631515	0.41029	0	0.672317	0.65289	0	0.697927	0.64325	0	0.592323	0.36904	0	.	.	5.46	5.46	0.80021	5.499000	0.66654	11.235000	0.90242	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	13.494	0.60866	15	0.98792	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3840.14	130	chr15	43328770	.	A	G	3840.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.08;DP=651;ExcessHet=0.2348;FS=2.607;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=1.79;SOR=0.637	GT:AD:DP:GQ:PL	0/1:79,67:146:99:1812,0,2182	8	0	2	0
chr15	43469880	43469885	GGGATA	-	exonic	TP53BP1	.	nonframeshift deletion	TP53BP1:NM_001141979:exon11:c.1362_1367del:p.I455_P456del,TP53BP1:NM_001141980:exon11:c.1362_1367del:p.I455_P456del,TP53BP1:NM_005657:exon11:c.1347_1352del:p.I450_P451del	.	419	1088	15	0	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.00179712	0.0061	0.0016	0.0034	0	0.0041	0.0092	0.0067	0.0023	0.0010758	28	26028	rs540564502	0.0091	0.0091	0.0092	0.0089	0.0132	0.0089	0.0089	0.0108	0.0104	0.0016	0.0035	0.0015	5.039e-05	0.0064	0.0132	0.0107	0.0085	0.0023	0.0063	0.0063	0.0067	0.0059	0.0104	0.0060	0.0058	0.0098	0.0095	0.0021	0.0197	0.0031	0.0020	0	0.0054	0.0170	0.0104	0.0061	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1128.39	41	chr15	43469879	.	TGGGATA	T	1128.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.711;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=1.95;SOR=0.678	GT:AD:DP:GQ:PL	0/1:33,30:63:99:1140,0,1290	9	0	1	0
chr15	45690983	45690983	G	A	exonic	SQOR	.	nonsynonymous SNV	SQOR:NM_021199:exon10:c.G1306A:p.G436R,SQOR:NM_001271213:exon11:c.G1306A:p.G436R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.0248532987108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.343	0.17857	T	0.599	0.39298	P	0.133	0.33073	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.21	0.37230	T	-1.64	0.39314	N	0.642	0.65587	-0.9431	0.42121	T	0.112	0.40145	T	10	0.59271455	0.66470	D	0.024853	0.47835	T	0.301	0.62179	0.777	0.90235	0.430808444494	0.42699	0.9138744494237139	0.91362	0.377217779885	0.39159	0.598961949348	0.52757	T	0.147863	0.48615	T	0.242441	0.77892	D	0.110473	0.77605	D	0.894370079040527	0.54574	D	0.963304	0.86380	D	0.5792838	0.71569	0.43236914	0.66825	0.5792838	0.71570	0.43236914	0.66825	-3.148	0.11855	T	.	.	0.318	0.54876	B	.;.	.;.	3.790633	0.54561	23.5	0.99805217725303152	0.88995	0.99170	0.92261	D	AEFDBIJ	0.940090	0.94158	D	0.483111622167409	0.66104	4.907173	0.572869370219555	0.73002	5.899665	0.999999999999994	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	8.478000	0.90271	6.671000	0.56279	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.135	0.89547	338	0.86082	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	764.43	35	chr15	45690983	.	G	A	764.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=383;ExcessHet=0;FS=6.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.64;SOR=0.623	GT:AD:DP:GQ:PL	0/1:37,29:66:99:776,0,995	9	0	1	0
chr15	48227171	48227171	G	A	exonic	SLC12A1	.	nonsynonymous SNV	SLC12A1:NM_001184832:exon5:c.G721A:p.G241R	Bartter syndrome, type 1, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.961	0.456431658102	.	.	0.0004	0	0	0	0	9.99e-05	0	0.0010	5.82e-05	9	154602	rs758055353	4.168e-05	4.105e-05	2.696e-05	5.677e-05	0.0012	3.27e-05	2.99e-05	0.0006	0.0004	0	0	3.976e-05	0	0	0.0012	9.332e-06	8.636e-05	0.0004	1.971e-05	1.97e-05	2.57e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-5.19	0.98838	D	-6.11	0.90023	D	0.961	0.97095	1.042	0.97959	D	0.983	0.99495	D	10	0.90726304	0.90091	D	0.456432	0.94435	D	0.961	0.99405	0.762	0.89053	0.99167746351	0.99159	.	.	0.686208846331	0.60320	0.882082104683	0.94240	D	.	.	.	0.311419	0.83850	D	0.554493	0.95764	D	0.73804247379303	0.42632	D	0.975102	0.91204	D	.	.	.	.	.	.	.	.	-13.846	0.92546	D	.	.	0.986	0.92454	P	.;.	.;.	4.205822	0.63499	24.6	0.99941032274401731	0.99797	0.99707	0.98841	D	AEFBI	0.915550	0.88049	D	1.12684913061899	0.98601	18.75929	1.04526638909803	0.99327	21.93895	0.999999997033295	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.77	5.77	0.91077	9.006000	0.93125	11.914000	0.99653	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	20.347	0.98800	793	0.45818	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2355.43	35	chr15	48227171	.	G	A	2355.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.013;DP=461;ExcessHet=0;FS=0.63;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-2.048;SOR=0.773	GT:AD:DP:GQ:PL	0/1:59,90:149:99:2367,0,1459	9	0	1	0
chr15	49292454	49292454	A	G	exonic	GALK2	.	nonsynonymous SNV	GALK2:NM_001001556:exon8:c.A851G:p.Y284C,GALK2:NM_001289031:exon8:c.A812G:p.Y271C,GALK2:NM_002044:exon8:c.A884G:p.Y295C,GALK2:NM_001289030:exon9:c.A812G:p.Y271C,GALK2:NM_001352047:exon9:c.A497G:p.Y166C,GALK2:NM_001352048:exon9:c.A497G:p.Y166C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.789	0.595862871601	7.7e-05	.	8.249e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs371808630	1.231e-05	1.231e-05	1.089e-05	1.375e-05	2.988e-05	7.7e-06	6.35e-06	8.52e-06	6.89e-06	2.988e-05	0	0	0	0	0	1.439e-05	0	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	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	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.94	0.96382	H	-2.38	0.88455	D	-8.99	0.98054	D	0.877	0.88027	0.987	0.96965	D	0.871	0.95701	D	10	0.96387285	0.95835	D	0.595863	0.96426	D	0.789	0.93028	.	.	0.970858928983	0.97054	0.7260136465993959	0.72545	0.311513822233	0.33456	0.518230557442	0.41377	T	0.567667	0.85633	D	0.408311	0.90385	D	0.36422	0.90862	D	0.99952232837677	0.97759	D	0.982502	0.94093	D	0.89739376	0.91151	0.7776711	0.86886	0.89739376	0.91152	0.7776711	0.86887	-10.796	0.79866	D	.	.	0.296	0.53261	B	.;.;.;.;.	.;.;.;.;.	4.771841	0.77261	26.7	0.99767866393083859	0.85666	0.99121	0.91534	D	AEFBI	.	.	.	0.864239819162334	0.89903	10.16721	0.756891099945002	0.86669	8.964583	0.999999999965128	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	8.797000	0.91506	9.317000	0.80010	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	1.0:0.0:0.0:0.0	15.526	0.75641	426	0.81110	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2151.43	35	chr15	49292454	.	A	G	2151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.565;DP=511;ExcessHet=0;FS=1.751;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=1.19;SOR=0.573	GT:AD:DP:GQ:PL	0/1:107,88:195:99:2163,0,2704	9	0	1	0
chr15	49508322	49508322	T	C	exonic	FAM227B	.	nonsynonymous SNV	FAM227B:NM_001330293:exon10:c.A799G:p.I267V,FAM227B:NM_152647:exon11:c.A901G:p.I301V	.	443	1077	1	1	0	3	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00160615039508	7.7e-05	0.000399361	0.0004	0	0	0	0	9.013e-05	0.0011	0.0024	0.0003234	50	154602	rs374653018	0.0002	0.0002	8.502e-05	0.0003	0.0027	0.0002	0.0001	0.0024	0.0023	0	0	0	0	0	0.0004	1.353e-05	0.0002	0.0027	9.193e-05	9.186e-05	0.0001	8.057e-05	0.0021	5.524e-05	4.362e-05	0.0011	0.0009	0	0	0	0	0	0	0	5.882e-05	0	0.0021	0.238	0.19927	T	0.094	0.40267	T	0.002	0.09854	B	0.001	0.04355	B	0.266999	0.03747	N	1.582980	1	0.08975	N	0	0.06538	N	.	.	.	0.31	0.04022	N	0.146	0.20262	-1.0444	0.16000	T	0.082	0.32237	T	9	0.0064932704	0.00147	T	0.001606	0.02574	T	0.026	0.05648	.	.	0.0138822411134	0.00435	0.1726369379961652	0.17183	0.0359130976242	0.03790	0.357009142637	0.18949	T	0.015194	0.12791	T	-0.641865	0.00081	T	-0.699698	0.05842	T	0.0135602873197731	0.00250	T	0.362864	0.08399	T	0.03834151	0.05089	0.05182665	0.08418	0.03834151	0.05089	0.05182665	0.08417	-3.572	0.19791	T	.	.	0.085	0.09965	B	.;.	.;.	1.861075	0.23640	16.10	0.96418287551075077	0.29747	0.10806	0.16205	N	AEFI	0.061696	0.11813	N	-0.789687944992597	0.13578	0.6699069	-0.69237384908206	0.17151	0.9106774	1.06808841709094E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.86	1.53	0.22224	0.138000	0.15838	0.181000	0.15632	0.665000	0.62972	0.302000	0.25342	0.040000	0.21562	0.888000	0.42677	0.0:0.2468:0.0:0.7532	5.223	0.14701	297	0.88113	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	767.43	41	chr15	49508322	.	T	C	767.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=373;ExcessHet=0;FS=7.06;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.037;SOR=1.591	GT:AD:DP:GQ:PL	0/1:31,29:60:99:779,0,683	9	0	1	0
chr15	49897369	49897369	A	G	exonic	ATP8B4	.	nonsynonymous SNV	ATP8B4:NM_024837:exon23:c.T2620C:p.C874R	.	434	1062	26	0	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	.	0.0063	0.00459265	0.0057	0.0107	0.0036	0	0.0009	0.0048	0.0066	0.0123	0.0053233	823	154602	rs74012834	0.0051	0.0051	0.0048	0.0053	0.0172	0.0050	0.0049	0.0144	0.0134	0.0113	0.0033	0.0141	2.519e-05	0.0011	0.0172	0.0044	0.0066	0.0126	0.0062	0.0062	0.0063	0.0061	0.0122	0.0058	0.0057	0.0098	0.0095	0.0107	0.0033	0.0033	0.0173	0	0.0006	0.0204	0.0044	0.0057	0.0122	0.743	0.03663	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.002321	0.36806	N	0.297818	0.999992	0.58761	D	-0.24	0.03895	N	-0.46	0.70014	T	-2.3	0.51157	N	0.494	0.54147	-1.0498	0.14453	T	0.093	0.35498	T	10	0.0073461235	0.00167	T	.	.	.	0.251	0.56024	.	.	0.474876406573	0.47116	0.7498061658044117	0.74927	0.0839836201128	0.09469	0.611285686493	0.54498	T	0.002077	0.01480	T	-0.441836	0.01261	T	-0.397056	0.33727	T	0.00396578209425917	0.00042	T	0.541546	0.18382	T	0.32305837	0.54897	0.31807154	0.57777	0.32305837	0.54897	0.31807154	0.57776	-4.519	0.31136	T	.	.	0.160	0.37024	B	.;.	.;.	1.190218	0.15813	12.12	0.54972148563145007	0.05246	0.18959	0.20471	N	AEFGI	0.226863	0.35075	N	-0.800004472418187	0.13311	0.6547919	-0.688715170324367	0.17242	0.9159305	0.997071151456392	0.35252	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	0.616	0.16789	0.137000	0.15816	1.461000	0.26681	0.756000	0.94297	0.005000	0.17040	0.877000	0.27660	0.997000	0.79791	0.6935:0.0:0.3065:0.0	8.820	0.34182	386	0.83455	P-type ATPase, C-terminal;P-type ATPase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.050505	0.020380	0.040936	0.000000	0.000000	0.006098	0.007576	0.05	672.43	33	chr15	49897369	.	A	G	672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.162;DP=380;ExcessHet=0;FS=2.015;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-1.292;SOR=1.071	GT:AD:DP:GQ:PL	0/1:38,33:71:99:684,0,923	9	0	1	0
chr15	70853953	70853953	G	A	exonic	LARP6	.	nonsynonymous SNV	LARP6:NM_018357:exon1:c.C136T:p.P46S,LARP6:NM_197958:exon1:c.C136T:p.P46S	.	400	1114	8	0	0	8	0.00357782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0891261160965	.	0.000399361	0.0025	0	0	0	.	0.0009	0	0.0034	0.000194	30	154602	rs550545328	0.0005	0.0005	0.0003	0.0006	0.0037	0.0004	0.0004	0.0033	0.0032	0.0001	0.0003	0.0001	0	0	0.0017	0.0003	0.0006	0.0037	0.0003	0.0003	0.0002	0.0004	0.0043	0.0002	0.0002	0.0029	0.0024	9.64e-05	0	0.0001	0.0003	0	0	0	0.0002	0.0010	0.0043	0.72	0.42487	T	0.659	0.20164	T	0.0	0.02946	B	0.0	0.01387	B	0.149363	0.02950	U	1.843720	1	0.18198	N	0.345	0.11182	N	1.02	0.40749	T	-0.11	0.90450	N	0.047	0.11626	-1.0665	0.10200	T	0.047	0.20116	T	10	0.004551798	0.00094	T	0.089126	0.75267	D	0.034	0.08419	0.177	0.08379	0.221890330934	0.21812	0.1984404551348924	0.19761	0.472386944088	0.46475	0.804862380028	0.82705	D	0.015969	0.13294	T	-0.557468	0.00263	T	-0.576277	0.14879	T	0.022757309517818	0.00994	T	0.531147	0.17633	T	0.066149004	0.14204	0.035109177	0.02701	0.066149004	0.14204	0.035109177	0.02701	-3.209	0.12640	T	.	.	0.069	0.31253	B	.;.	.;.	0.409846	0.07807	4.499	0.94994155415353054	0.25948	0.02761	0.07453	N	AEFDBHCI	0.046105	0.07619	N	-1.50616555196686	0.01809	0.07928242	-1.52758906322502	0.02134	0.09769164	0.999999959839904	0.74766	0.72623	0.87236	0	0.552344	0.17405	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	3.17	-1.62	0.07926	-1.111000	0.03414	0.035000	0.13787	-0.340000	0.05703	0.000000	0.06391	0.010000	0.20010	0.435000	0.27561	0.1221:0.1842:0.318:0.3757	1.395	0.02124	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	0.001792	0.000000	0.000000	0.000000	0.000000	0.015625	0.004808	0.000000	0.05	325.43	40	chr15	70853953	.	G	A	325.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.797;DP=277;ExcessHet=0;FS=1.569;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.87;SOR=0.412	GT:AD:DP:GQ:PL	0/1:11,13:24:99:337,0,250	9	0	1	0
chr15	78766678	78766678	-	A	exonic	ADAMTS7	.	frameshift insertion	ADAMTS7:NM_014272:exon19:c.3232dupT:p.Y1078Lfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0192	.	0.0159	0.0060	0.0379	0.0011	0.0039	0.0204	0.0094	0.0018	0.0009605	25	26028	rs778557910	0.0001	0.0010	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	0.0003	8.984e-05	0.0001	7.673e-05	0.0004	0.0001	0	0.0001	0.0001	0.0004	0.0003	0.0021	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	9.64e-05	0	0.0005	0.0003	0.0002	0.0002	0	0.0003	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006834	0.025316	0.004121	0.021368	0.000000	0.000000	0.003448	0.004132	0.1	300.1	90	chr15	78766678	.	T	TA	300.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.77;DP=495;ExcessHet=0.2348;FS=23.736;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.97;MQRankSum=-8.458;QD=1.66;ReadPosRankSum=0.281;SOR=2.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,13:91:99:0|1:78766678_T_TA:281,0,3138:78766678	8	0	2	0
chr15	78766699	78766699	T	C	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon19:c.A3212G:p.N1071S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0678939093032	.	.	0.0052	0.0025	0.0044	0.0001	0.0012	0.0079	0.0035	0.0011	3.84e-05	1	26028	rs772401605	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	4.477e-05	7.669e-05	0.0003	0.0001	0.0002	0.0002	6.654e-05	0.0002	0.0004	0.0035	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0007	0	0.0002	0	0	0.0002	0	0.0004	0.0005	0.0004	0.01	0.56456	D	0.082	0.41573	T	0.911	0.50336	P	0.505	0.47795	P	0.000002	0.62929	D	0.056036	0.774007	0.34185	D	2.535	0.73915	M	0.08	0.61559	T	-2.71	0.57762	D	0.362	0.40364	-0.5890	0.65260	T	0.218	0.58046	T	10	0.016785592	0.00355	T	0.067894	0.70296	D	0.237	0.54074	.	.	0.546824882953	0.54336	0.5624284233269976	0.56169	0.323247963156	0.34489	0.496368527412	0.38321	T	0.016713	0.13762	T	-0.143449	0.29343	T	-0.443831	0.28381	T	0.0633423924446106	0.07684	T	0.894311	0.63332	D	0.1469743	0.33619	0.16823867	0.38768	0.1469743	0.33619	0.16823867	0.38767	-7.788	0.59616	D	.	.	0.110	0.21011	B	.	.	2.196717	0.28013	17.66	0.99767293509876787	0.85583	0.89112	0.49384	D	AEFBI	0.452223	0.50587	N	0.106411927005936	0.46762	2.911622	0.038612124538652	0.41526	2.49619	0.010572981451808	0.12047	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.66	2.13	0.26445	3.072000	0.49747	0.035000	0.13787	0.502000	0.22824	1.000000	0.71638	0.850000	0.27382	0.108000	0.18652	0.0:0.0:0.3202:0.6798	10.187	0.42180	499	0.76092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001697	0.006173	0.000000	0.004274	0.000000	0.008621	0.000000	0.000000	0.05	143.67	91	chr15	78766699	.	T	C	143.67	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.88;DP=481;ExcessHet=0;FS=38.191;InbreedingCoeff=-0.0686;MLEAC=1;MLEAF=0.05;MQ=58.43;MQRankSum=-7.975;QD=1.73;ReadPosRankSum=-1.004;SOR=5.376	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,9:83:99:0|1:78766678_T_TA:155,0,3080:78766678	9	0	1	0
chr15	84512229	84512231	CTC	-	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234003760	0.0009	0.0007	0.0010	0.0009	0.0013	0.0009	0.0008	0.0012	0.0011	0.0003	0.0001	0	3.151e-05	0.0003	0	0.0013	0.0009	0.0007	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	9.356e-05	0	0.0004	0	0	0	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	258.39	33	chr15	84512228	.	TCTC	T	258.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.147;DP=338;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37.3;MQRankSum=0.289;QD=5.74;ReadPosRankSum=-0.44;SOR=0.382	GT:AD:DP:GQ:PL	0/1:36,9:45:99:270,0,1484	9	0	1	0
chr15	85243973	85243973	A	G	exonic	GOLGA6L3	.	nonsynonymous SNV	GOLGA6L3:NM_001310153:exon5:c.A367G:p.K123E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260654771	0.0006	0.0006	0.0005	0.0006	0.0013	0.0005	0.0005	0.0006	0.0006	0	4.492e-05	0	0	0.0002	0.0013	0.0007	0.0004	0.0007	0.0004	0.0003	0.0004	0.0004	0.0007	0.0003	0.0002	0.0005	0.0004	0	0	0	0	0	0.0002	0	0.0007	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	182.79	12	chr15	85243973	.	A	G	182.79	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.64;DP=88;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=21.95;MQRankSum=-1.683;QD=12.19;ReadPosRankSum=0.749;SOR=1.112	GT:AD:DP:GQ:PL	0/1:6,9:15:99:193,0,117	8	0	1	1
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	14490.1	52	chr15	89776903	.	AGGGCAGGGGCAG	*	14490.1	.	AC=4;AF=0.2;AN=20;DP=496;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=4;MLEAF=0.2;MQ=60;QD=33.86;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,29:56:99:0|1:89776888_G_A:2253,1065,981:89776888	6	0	4	0
chr15	100484599	100484599	G	A	exonic	CERS3	.	nonsynonymous SNV	CERS3:NM_001378789:exon5:c.C358T:p.R120W,CERS3:NM_001290342:exon6:c.C358T:p.R120W,CERS3:NM_001290343:exon6:c.C358T:p.R120W,CERS3:NM_178842:exon6:c.C358T:p.R120W,CERS3:NM_001290341:exon7:c.C391T:p.R131W	Ichthyosis, congenital, autosomal recessive 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.854	0.399069372656	.	.	8.252e-06	0	8.661e-05	0	0	0	0	0	1.94e-05	3	154602	rs563311139	2.394e-05	2.531e-05	2.722e-05	2.063e-05	0.0005	1.739e-05	1.539e-05	0.0001	7.541e-05	5.974e-05	0.0002	0	2.519e-05	0	0.0005	1.709e-05	3.312e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.053581	1	0.81001	D	4.385	0.98597	H	-4.56	0.97772	D	-7.6	0.96495	D	0.636	0.65074	1.093	0.99378	D	0.964	0.98844	D	10	0.88943315	0.88281	D	0.399069	0.93357	D	0.854	0.95507	0.648	0.78542	0.724913443104	0.72248	0.900951311323346	0.90067	0.156298676317	0.17638	0.46867197752	0.34497	T	0.797286	0.98379	D	0.30813	0.83602	D	0.489545	0.94392	D	0.999014616012573	0.95890	D	0.981102	0.93484	D	0.7810853	0.82720	0.67464453	0.80898	0.7810853	0.82722	0.67464453	0.80899	-11.409	0.81853	D	0.8042003436476581	0.88037	0.427	0.63481	A	.;.;.;.	.;.;.;.	5.133109	0.85909	28.7	0.99929179830329429	0.99279	0.90837	0.52354	D	AEFBIJ	0.563277	0.57053	D	0.825079361680227	0.87647	9.291011	0.742426190282262	0.85588	8.626232	0.25740386821912	0.18750	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	2.593000	0.45845	6.602000	0.56060	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.8351:0.1649	12.705	0.56425	969	0.06854	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1184.43	38	chr15	100484599	.	G	A	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.791;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-1.569;SOR=0.773	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1196,0,1210	9	0	1	0
chr16	1221910	1221910	G	T	exonic	TPSG1	.	nonsynonymous SNV	TPSG1:NM_012467:exon6:c.C844A:p.L282I	.	402	1117	3	0	0	3	0.00134108	.	.	.	726420	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.02628828882	0.0029	0.000998403	0.0025	0.0008	0.0008	0	0.0003	0.0040	0.0012	0.0005	0.0025485	394	154602	rs117001332	0.0042	0.0042	0.0044	0.0041	0.0052	0.0042	0.0041	0.0051	0.0051	0.0004	0.0014	3.842e-05	0	0.0004	0.0014	0.0052	0.0033	0.0010	0.0027	0.0027	0.0029	0.0025	0.0050	0.0025	0.0024	0.0045	0.0044	0.0007	0.0066	0.0015	0	0	0.0008	0	0.0050	0.0019	0.0002	0.555	0.06482	T	0.442	0.13252	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.29	0.87591	D	-0.16	0.09460	N	0.087	0.06454	-0.8749	0.50158	T	0.243	0.61201	T	9	0.0046982765	0.00099	T	0.026288	0.49208	D	0.086	0.25016	.	.	0.298056030225	0.29408	0.1617490073080952	0.16095	0.0053799110228	0.00472	0.293233036995	0.09395	T	.	.	.	-0.432883	0.01424	T	-0.389456	0.34615	T	0.000594509451174845	0.00005	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11124	B	.	.	0.878579	0.12517	9.047	0.96908087731935455	0.31566	0.07852	0.13844	N	AEFDBCI	0.088148	0.17870	N	-1.12049972051623	0.06279	0.2886243	-1.14347386445851	0.06885	0.3329891	0.968831800704342	0.29082	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.05	-0.997	0.09693	-0.175000	0.09816	-0.064000	0.12386	0.612000	0.49041	0.000000	0.06391	0.000000	0.08366	0.179000	0.21265	0.098:0.1529:0.4369:0.3122	2.791	0.05058	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	3148.14	125	chr16	1221910	.	G	T	3148.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.14;DP=710;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-1.189;SOR=0.717	GT:AD:DP:GQ:PL	0/1:42,41:83:99:1114,0,1120	8	0	2	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3512.36	45	chr16	1397277	.	A	*	3512.36	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.056;DP=806;ExcessHet=5.3821;FS=3.421;InbreedingCoeff=-0.3919;MLEAC=9;MLEAF=0.5;MQ=59.91;MQRankSum=0;QD=6.39;ReadPosRankSum=-0.022;SOR=0.464	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,8:24:99:1|0:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:2073,605,525:1397263	2	1	6	1
chr16	1519928	1519928	C	G	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon29:c.G3993C:p.Q1331H	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	YES	342012	Saldino-Mainzer_syndrome|IFT140-related_disorder|not_specified|not_provided	MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.039	0.00752693143321	0.0018	0.00119808	0.0023	0.0003	0.0008	0	0.0007	0.0025	0.0038	0.0068	0.0022057	341	154602	rs35823417	0.0023	0.0024	0.0022	0.0025	0.0062	0.0023	0.0022	0.0057	0.0056	0.0002	0.0004	0.0049	5.053e-05	0.0010	0.0028	0.0022	0.0024	0.0062	0.0018	0.0018	0.0017	0.0018	0.0052	0.0016	0.0015	0.0036	0.0031	0.0003	0.0066	0.0005	0.0046	0	0.0009	0.0068	0.0027	0.0019	0.0052	0.148	0.24857	T	0.143	0.45961	T	0.0	0.02946	B	0.002	0.06944	B	0.066896	0.21779	N	0.497841	0.686778	0.30228	N	1.575	0.39704	L	0.98	0.42122	T	-1.24	0.31375	N	0.273	0.30914	-1.0313	0.20034	T	0.072	0.29387	T	10	0.011028826	0.00243	T	0.007527	0.19979	T	0.039	0.10176	0.396	0.42262	0.424194796918	0.42034	0.26771063134601975	0.26684	0.0652125274148	0.07282	0.32082092762	0.13546	T	0.01702	0.22775	T	-0.56915	0.00224	T	-0.588816	0.13769	T	0.00680652011326848	0.00077	T	0.779722	0.42065	T	0.08465561	0.19604	0.08424639	0.19367	0.10612093	0.25091	0.0798851	0.18023	-4.574	0.31843	T	0.16601343189898216	0.20616	0.126	0.38006	B	.;.;.	.;.;.	1.711284	0.21790	15.35	0.93911997235334244	0.23947	0.75277	0.36850	D	AEFBI	0.124043	0.23992	N	-0.269522248979812	0.30332	1.690251	-0.112300519175589	0.34894	2.012354	0.906481647171222	0.26233	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.42	5.42	0.78666	0.438000	0.21277	3.315000	0.37496	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.232000	0.22788	0.1277:0.5707:0.3016:0.0	10.066	0.41479	814	0.42100	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.002717	0.002924	0.000000	0.000000	0.003067	0.007576	0.1	1676.14	75	chr16	1519928	.	C	G	1676.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.766;DP=447;ExcessHet=0.2348;FS=0.645;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=1.35;SOR=0.809	GT:AD:DP:GQ:PL	0/1:46,21:67:99:468,0,1156	8	0	2	0
chr16	1571518	1571518	A	T	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon14:c.T1541A:p.L514H	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	6	1481	32	3	0	38	0.0126667	.	.	YES	272286	not_specified|Saldino-Mainzer_syndrome|IFT140-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.455	.	0.0017	0.00199681	0.0043	0.0005	0.0008	0	0.0153	0.0049	0.0044	0.0046	0.0037516	580	154602	rs150903791	0.0029	0.0029	0.0029	0.0030	0.0231	0.0029	0.0028	0.0199	0.0187	0.0011	0.0010	0.0031	2.519e-05	0.0150	0.0231	0.0024	0.0030	0.0040	0.0030	0.0030	0.0022	0.0038	0.0044	0.0028	0.0027	0.0029	0.0024	0.0003	0	0.0014	0.0029	0	0.0195	0.0340	0.0025	0.0028	0.0044	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.979	0.74454	D	0.000077	0.52346	D	0.081002	0.999981	0.54805	D	2.505	0.72935	M	0.26	0.59314	T	-2.9	0.60827	D	0.597	0.61596	-0.1682	0.78472	T	0.402	0.75288	T	10	0.011529267	0.00251	T	.	.	.	0.455	0.75415	.	.	0.908992176636	0.90808	0.4920386895560723	0.49124	0.152153152439	0.17166	0.756964325905	0.75478	T	0.179384	0.53035	T	-0.291607	0.09475	T	-0.191383	0.55460	T	0.0393382414440502	0.03572	T	0.817118	0.47377	T	0.58520865	0.71892	0.6023714	0.76894	0.58520865	0.71893	0.6023714	0.76895	-10.822	0.78672	D	0.4651949327611722	0.54666	0.201	0.42520	B	.	.	4.586692	0.72512	25.8	0.98270478578074383	0.39759	0.90525	0.51773	D	AEFBI	0.496167	0.53122	N	0.771636998223519	0.84304	8.250805	0.73884982458984	0.85323	8.545912	0.891748504960808	0.25867	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.77	5.77	0.91077	5.826000	0.68980	10.948000	0.84382	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	1.0:0.0:0.0:0.0	15.749	0.77734	616	0.66398	.	.	.	.	.	.	Likely benign	0	0	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	0.023162	0.005051	0.023098	0.043860	0.050000	0.025862	0.018293	0.011364	0.05	1668.43	38	chr16	1571518	.	A	T	1668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.771;DP=403;ExcessHet=0;FS=0.774;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.94;ReadPosRankSum=-0.591;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,44:93:99:0|1:1571517_G_T:1680,0,1925:1571517	9	0	1	0
chr16	2464630	2464630	C	T	exonic	TEDC2	.	nonsynonymous SNV	TEDC2:NM_025108:exon10:c.C1264T:p.R422C	.	409	1076	34	3	0	40	0.0182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0054	0.00519169	0.0088	0.0014	0.0028	0	0.0239	0.0100	0.0060	0.0119	0.0079688	1232	154602	rs72768723	0.0071	0.0071	0.0069	0.0073	0.0161	0.0070	0.0070	0.0135	0.0125	0.0014	0.0032	0.0080	0	0.0193	0.0161	0.0068	0.0081	0.0101	0.0059	0.0059	0.0052	0.0066	0.0073	0.0056	0.0055	0.0061	0.0059	0.0013	0	0.0057	0.0104	0.0002	0.0202	0.0137	0.0066	0.0080	0.0073	0.003	0.68238	D	0.001	0.83351	D	0.049	0.22227	B	0.008	0.13708	B	0.464993	0.12346	N	0.722332	1	0.08975	N	.	.	.	0.71	0.51228	T	-4.08	0.74742	D	0.221	0.24758	-0.9751	0.36104	T	0.074	0.29739	T	10	0.0042487085	0.00085	T	.	.	.	0.040	0.10527	.	.	0.582293646009	0.57902	0.29318303773211113	0.29231	0.553608707389	0.52127	.	.	.	0.077173	0.35591	T	-0.479382	0.00745	T	-0.451981	0.27477	T	0.0354814574228661	0.02890	T	0.784022	0.42156	T	0.28052235	0.51099	0.16465454	0.38132	0.28052235	0.51098	0.16465454	0.38131	-5.717	0.43845	T	.	.	0.158	0.35204	B	.;.	.;.	2.178234	0.27765	17.57	0.99691153425546586	0.79977	0.10164	0.15745	N	AEFDGBHCI	0.120056	0.23405	N	-0.800832403474442	0.13289	0.6535961	-0.876775266829197	0.12646	0.6516711	0.999789446195623	0.43007	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.44	1.15	0.19876	0.159000	0.16258	-0.008000	0.13101	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.1996:0.5832:0.0:0.2172	3.475	0.07147	709	0.56835	.;.	.	.	.	.	rs72768723	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012097	0.010204	0.009537	0.005848	0.000000	0.017241	0.024390	0.026515	0.1	1019.14	68	chr16	2464630	.	C	T	1019.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.57;DP=416;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=0.758;SOR=0.65	GT:AD:DP:GQ:PL	0/1:48,22:70:99:436,0,1170	8	0	2	0
chr16	2933538	2933538	A	G	exonic	FLYWCH1	.	nonsynonymous SNV	FLYWCH1:NM_001308068:exon5:c.A1205G:p.Q402R,FLYWCH1:NM_020912:exon5:c.A1202G:p.Q401R,FLYWCH1:NM_032296:exon5:c.A1202G:p.Q401R	.	414	1103	4	1	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00465213204227	0.0006	0.000399361	0.0012	0.0001	9.258e-05	0.0001	0.0004	0.0017	0.0026	0.0014	0.001009	156	154602	rs199772403	0.0010	0.0010	0.0010	0.0011	0.0030	0.0010	0.0010	0.0019	0.0015	0.0002	0.0003	0.0060	7.573e-05	0.0004	0.0030	0.0010	0.0011	0.0011	0.0009	0.0009	0.0010	0.0008	0.0021	0.0008	0.0007	0.0011	0.0009	0.0003	0	6.531e-05	0.0063	0	0.0004	0.0034	0.0012	0.0014	0.0021	0.239	0.17761	T	0.146	0.33000	T	0.054	0.30888	B	0.006	0.26451	B	.	.	.	.	0.999819	0.20249	N	1.935	0.51832	L	.	.	.	-1.03	0.27052	N	0.3	0.33904	-1.0732	0.08724	T	0.047	0.19958	T	8	0.0095255375	0.00215	T	0.004652	0.11534	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.28624064612812355	0.28537	.	.	0.372117161751	0.21135	T	0.011361	0.10143	T	-0.495811	0.00604	T	-0.530526	0.19234	T	0.0173618824402728	0.00475	T	0.390461	0.09684	T	0.021661319	0.00780	0.03994408	0.04203	0.021661319	0.00780	0.03994408	0.04203	-4.034	0.24311	T	.	.	0.077	0.06479	B	.;.	.;.	0.440021	0.08101	4.830	0.62950412539720701	0.07095	0.08896	0.14755	N	AEFDBI	0.066948	0.13137	N	-0.750563989585521	0.14617	0.7296731	-0.743219928541112	0.15888	0.8379034	0.0774458580637721	0.15759	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.28	3.2	0.35826	0.087000	0.14801	0.367000	0.17636	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.8805:0.0:0.1195:0.0	5.674	0.17010	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	0.002014	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.1	1547.14	59	chr16	2933538	.	A	G	1547.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.988;DP=408;ExcessHet=0.2348;FS=0.721;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.357;SOR=0.781	GT:AD:DP:GQ:PL	0/1:19,34:53:99:819,0,515	8	0	2	0
chr16	2966796	2966796	G	A	splicing	KREMEN2	NM_024507:exon5:c.640+1G>A;NM_001253726:exon5:c.523+1G>A;NM_001253725:exon5:c.523+1G>A;NM_172229:exon5:c.640+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1445963984	2.761e-06	2.748e-06	1.374e-06	4.161e-06	4.664e-05	6.5e-07	4.4e-07	1.589e-05	9.34e-06	0	0	0	0	0	0	0	0	4.664e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127134	0.67081	D	-0.0551568	0.66669	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	5.868233	0.93883	33	0.98910529971911676	0.48363	0.87187	0.46651	D	AEFDBCI	.	.	.	0.970808478804533	0.94775	13.02903	0.778385864154196	0.88251	9.513424	0.999999998892591	0.74766	0.079558	0.02119	0	0.079893	0.02001	0	0.068936	0.01964	0	0.085113	0.02366	1	0.95871	0.64713	4.79	4.79	0.60909	7.350000	0.78633	8.402000	0.77108	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0:0.0:1.0:0.0	15.390	0.74451	867	0.32089	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	879.43	34	chr16	2966796	.	G	A	879.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.755;DP=401;ExcessHet=0;FS=1.814;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.083;SOR=0.895	GT:AD:DP:GQ:PL	0/1:47,36:83:99:891,0,1267	9	0	1	0
chr16	3068238	3068238	C	T	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001012636:exon4:c.C173T:p.P58L,IL32:NM_001012634:exon5:c.C140T:p.P47L,IL32:NM_001012635:exon5:c.C140T:p.P47L,IL32:NM_001308078:exon5:c.C338T:p.P113L,IL32:NM_001369587:exon5:c.C338T:p.P113L,IL32:NM_001369588:exon5:c.C338T:p.P113L,IL32:NM_001369591:exon5:c.C140T:p.P47L,IL32:NM_001369592:exon5:c.C140T:p.P47L,IL32:NM_001369593:exon5:c.C170T:p.P57L,IL32:NM_001369595:exon5:c.C140T:p.P47L,IL32:NM_001369596:exon5:c.C200T:p.P67L,IL32:NM_001012632:exon6:c.C200T:p.P67L,IL32:NM_001012633:exon6:c.C200T:p.P67L,IL32:NM_001012718:exon6:c.C200T:p.P67L,IL32:NM_001376923:exon6:c.C200T:p.P67L,IL32:NM_004221:exon6:c.C200T:p.P67L,IL32:NM_001012631:exon7:c.C200T:p.P67L,IL32:NM_001369589:exon7:c.C200T:p.P67L	.	417	1081	24	0	0	24	0.010979	0.0002	0.042	.	703639	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.089	.	0.0035	0.00299521	0.0060	0.0008	0.0120	0	0.0007	0.0073	0.0182	0.0051	0.0032341	500	154602	rs141583132	0.0036	0.0036	0.0036	0.0036	0.0118	0.0035	0.0035	0.0096	0.0088	0.0011	0.0030	0.0095	0	0.0013	0.0118	0.0037	0.0045	0.0033	0.0029	0.0029	0.0029	0.0029	0.0040	0.0027	0.0026	0.0036	0.0035	0.0012	0.0011	0.0031	0.0069	0	0.0012	0.0034	0.0040	0.0052	0.0037	0.007	0.63226	D	1.0	0.12246	T	0.002	0.14655	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.75	0.73311	T	-3.69	0.84601	D	0.09	0.20262	-1.0508	0.14175	T	0.096	0.36159	T	9	0.0057647824	0.00137	T	.	.	.	0.089	0.25827	.	.	0.371157983038	0.36729	0.00396477721922768	0.00371	0.110558448003	0.12480	0.552215576172	0.46171	T	0.04808	0.33969	T	-0.45423	0.01066	T	-0.424293	0.30584	T	0.0166208605860135	0.00422	T	0.642236	0.25428	T	0.03586808	0.04304	0.062980935	0.12406	0.03586808	0.04303	0.062980935	0.12406	-4.723	0.39456	T	.	.	0.194	0.56231	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-0.570557	0.01654	0.116	0.36303562391683897	0.02328	0.00216	0.01224	N	AEFBI	0.041015	0.06178	N	-1.77802557302646	0.00601	0.025904	-1.86218700591529	0.00580	0.02575188	0.999983698407311	0.51787	0.706548	0.73137	0	0.581341	0.33841	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	1.9	-3.8	0.04025	-2.506000	0.01038	.	.	-2.318000	0.00317	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.3022:0.0:0.5119	3.824	0.08362	748	0.52143	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.009202	0.005495	0.008152	0.011765	0.000000	0.000000	0.015528	0.003846	0.05	335.43	35	chr16	3068238	.	C	T	335.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.028;DP=377;ExcessHet=0;FS=1.721;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.953;SOR=1.329	GT:AD:DP:GQ:PL	0/1:13,12:25:99:347,0,353	9	0	1	0
chr16	3664410	3664410	-	CGG	exonic	TRAP1	.	nonframeshift insertion	TRAP1:NM_001272049:exon12:c.1273_1274insCCG:p.S424_G425insA,TRAP1:NM_016292:exon13:c.1432_1433insCCG:p.S477_G478insA	.	436	1057	29	0	0	29	0.0135324	.	.	.	714907	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0036	0.00499201	0.0071	0.0008	0.0046	0	0.0007	0.0059	0.0116	0.0222	0.004111	107	26028	rs201472428	0.0061	0.0061	0.0055	0.0066	0.0210	0.0059	0.0059	0.0202	0.0198	0.0009	0.0029	0.0068	0	0.0008	0.0123	0.0056	0.0059	0.0210	0.0041	0.0041	0.0038	0.0045	0.0203	0.0039	0.0037	0.0170	0.0158	0.0009	0.0110	0.0039	0.0055	0	0.0004	0.0034	0.0057	0.0052	0.0203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010101	0.000000	0.005450	0.017544	0.000000	0.000000	0.009317	0.026515	0.1	3994.1	34	chr16	3664410	.	C	CCGG	3994.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.415;DP=496;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.58;ReadPosRankSum=1.63;SOR=0.704	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1814,0,2289	8	0	2	0
chr16	3729202	3729202	C	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon30:c.G5731A:p.A1911T,CREBBP:NM_004380:exon31:c.G5845A:p.A1949T	Rubinstein-Taybi syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1887520	Rubinstein-Taybi_syndrome	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.198	0.172642801517	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380660032	5.857e-06	6.868e-06	4.335e-06	7.42e-06	5.628e-05	2.52e-06	1.82e-06	9.32e-06	3.49e-06	0	0	0	5.628e-05	0	0	3.754e-06	3.502e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.13392	T	0.51	0.10821	T	0.02	0.18235	B	0.007	0.12992	B	0.000386	0.44960	D	0.094982	0.898445	0.36113	D	-0.895	0.01383	N	-1.72	0.83241	D	-0.67	0.19297	N	0.199	0.28146	-0.6849	0.61146	T	0.287	0.65928	T	10	0.12058872	0.22844	T	0.172643	0.84957	D	0.198	0.48105	.	.	0.751862622022	0.74961	0.12719092682725033	0.12645	1.29775370337	0.82942	0.604816734791	0.53584	T	0.450002	0.79128	T	-0.0598217	0.42934	T	-0.293486	0.45409	T	0.0950286865737261	0.11802	T	0.858314	0.54891	D	0.06739857	0.14591	0.0825872	0.18862	0.06739857	0.14591	0.0825872	0.18861	-3.536	0.16940	T	0.11939617187872592	0.11119	0.074	0.08705	B	.;.	.;.	3.515194	0.49250	22.7	0.91873579883660106	0.21190	0.74680	0.36539	D	AEFDBCI	0.082486	0.16703	N	-0.444697634286659	0.23919	1.287946	-0.255500478846907	0.29581	1.658514	0.0179025254400094	0.13002	0.646311	0.45356	0	0.379588	0.06130	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	5.16	4.17	0.48303	1.925000	0.39705	.	.	0.594000	0.32500	0.916000	0.31843	0.999000	0.35428	0.682000	0.33600	0.29:0.71:0.0:0.0	13.178	0.59061	641	0.64016	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05	534.43	33	chr16	3729202	.	C	T	534.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.102;DP=423;ExcessHet=0;FS=4.885;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=-2.44;SOR=0.319	GT:AD:DP:GQ:PL	0/1:48,24:72:99:546,0,1267	9	0	1	0
chr16	4657283	4657283	G	A	exonic	MGRN1	.	nonsynonymous SNV	MGRN1:NM_001142289:exon5:c.G481A:p.V161I,MGRN1:NM_001142290:exon5:c.G481A:p.V161I,MGRN1:NM_001142291:exon5:c.G481A:p.V161I,MGRN1:NM_015246:exon5:c.G481A:p.V161I	.	.	.	.	.	.	.	.	.	.	.	2257426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0184728257181	.	.	3.313e-05	0	0	0.0005	0	0	0	0	2.59e-05	4	154602	rs758611746	2.805e-05	2.805e-05	2.995e-05	2.613e-05	0.0004	2.087e-05	1.878e-05	0.0002	0.0002	2.987e-05	0	0	0.0004	0	0	1.709e-05	8.279e-05	1.159e-05	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	0.116	0.28395	T	0.062	0.45318	T	0.011	0.29916	B	0.013	0.31460	B	0.000009	0.62929	N	0.110740	0.999998	0.58761	D	2.485	0.72352	M	1.36	0.34452	T	-0.38	0.14000	N	0.331	0.38129	-1.0868	0.06084	T	0.079	0.31344	T	10	0.090881646	0.15871	T	0.018473	0.40544	T	0.075	0.21907	0.259	0.20159	0.107399877778	0.10242	0.20479051323350966	0.20396	0.0361065396824	0.03815	0.47914275527	0.35938	T	0.074661	0.48354	T	-0.434202	0.01399	T	-0.498444	0.22508	T	0.205844144489699	0.20734	T	0.854015	0.53996	D	0.023515321	0.01098	0.04303731	0.05262	0.023515321	0.01097	0.04303731	0.05262	-10.068	0.74318	D	.	.	0.070	0.24532	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.885665	0.38196	20.7	0.99035561202151601	0.50895	0.93336	0.57944	D	AEFBCI	0.667228	0.63542	D	-0.0699038112688235	0.38719	2.271977	0.0457503998348309	0.41867	2.522507	0.749363671898335	0.23335	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.22	3.26	0.36471	6.828000	0.75100	1.736000	0.28364	-0.109000	0.15193	1.000000	0.71638	0.939000	0.28734	0.585000	0.31016	0.1591:0.0:0.8409:0.0	10.556	0.44306	659	0.61982	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1667.14	60	chr16	4657283	.	G	A	1667.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.67;DP=397;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.62;SOR=0.631	GT:AD:DP:GQ:PL	0/1:30,30:60:99:768,0,714	8	0	2	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	.	.	.	.	.	.	.	.	0.5	1673.04	150	chr16	14582206	.	G	C	1673.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.707;DP=1877;ExcessHet=22.563;FS=418.632;InbreedingCoeff=-0.9999;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=2.08;SOR=13.119	GT:AD:DP:GQ:PL	0/1:103,75:181:99:320,0,1588	0	0	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	139.1	97	chr16	14667707	.	GCCCC	G	139.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.012;DP=465;ExcessHet=0.2348;FS=59.818;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.935;SOR=6.202	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,11:91:55:0|1:14667707_GCCCC_G:55,0,3253:14667707	8	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	140.33	97	chr16	14667711	.	C	CGGGG	140.33	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.377;DP=490;ExcessHet=0.2348;FS=59.818;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=0.95;SOR=6.202	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,11:91:55:0|1:14667707_GCCCC_G:55,0,3253:14667707	7	0	2	1
chr16	18533147	18533147	C	T	exonic	NOMO2	.	nonsynonymous SNV	NOMO2:NM_001004060:exon12:c.G1253A:p.R418H,NOMO2:NM_173614:exon12:c.G1253A:p.R418H	.	544	965	13	0	0	13	0.00669068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00559288308923	0.0010	0.000998403	0.0013	0.0002	0.0006	0	0	0.0018	0.0022	0.0016	0.0011255	174	154602	rs140359200	0.0017	0.0017	0.0017	0.0018	0.0075	0.0017	0.0017	0.0054	0.0047	0.0003	0.0007	0.0024	2.52e-05	0	0.0075	0.0019	0.0018	0.0020	0.0011	0.0011	0.0012	0.0010	0.0023	0.0010	0.0009	0.0015	0.0014	0.0002	0.0132	0.0003	0.0023	0	0	0	0.0018	0.0010	0.0023	0.211	0.21066	T	0.202	0.39492	T	0.014	0.16867	B	0.005	0.11217	B	0.000002	0.62929	D	0.060274	0.999995	0.58761	D	1.43	0.35840	L	3.68	0.04228	T	-1.19	0.30346	N	0.256	0.32148	-0.9780	0.35458	T	0.012	0.04558	T	10	0.0067940354	0.00154	T	0.005593	0.14439	T	0.074	0.21613	.	.	0.229264304666	0.22521	0.41393095197811686	0.41309	.	.	0.525905013084	0.42458	T	0.013152	0.11431	T	-0.516583	0.00460	T	-0.521288	0.20164	T	0.0300199047512515	0.01993	T	0.919208	0.70896	D	0.07670785	0.17367	0.046924885	0.06647	0.07670785	0.17366	0.046924885	0.06647	-7.14	0.57017	T	.	.	0.071	0.04517	B	.;.;.;.;.	.;.;.;.;.	3.429104	0.47650	22.5	0.98519515028065607	0.42447	0.92172	0.55105	D	AEFI	0.648077	0.62302	D	-0.251513117481904	0.31044	1.736803	-0.156545236330313	0.33157	1.893783	3.23886481115548E-4	0.06540	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	2.75	2.75	0.31439	4.178000	0.58079	4.843000	0.45303	0.291000	0.18778	1.000000	0.71638	1.000000	0.68203	0.788000	0.37229	0.0:0.8713:0.0:0.1287	7.249	0.25310	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	0.003567	0.000000	0.005479	0.004310	0.000000	0.000000	0.000000	0.008264	0.05	4317.43	33	chr16	18533147	.	C	T	4317.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.054;DP=661;ExcessHet=0;FS=1.81;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.51;MQRankSum=1.46;QD=13.04;ReadPosRankSum=2.31;SOR=0.82	GT:AD:DP:GQ:PL	0/1:155,176:331:99:4329,0,3622	9	0	1	0
chr16	19521765	19521765	G	C	exonic	GDE1	.	nonsynonymous SNV	GDE1:NM_001324067:exon1:c.C200G:p.A67G,GDE1:NM_016641:exon1:c.C200G:p.A67G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00654517435627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	0	2.755e-06	0.0003	2.3e-07	9e-08	6.109e-05	2.528e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.17643	T	0.275	0.22016	T	0.22	0.30288	B	0.092	0.30031	B	0.000001	0.84330	D	0.000000	0.564521	0.32241	D	1.525	0.38595	L	2.77	0.11407	T	-0.42	0.14193	N	0.497	0.53006	-1.0602	0.11706	T	0.025	0.10688	T	10	0.13661453	0.25992	T	0.006545	0.17243	T	0.071	0.20720	0.403	0.43408	0.17258766438	0.16869	0.7976531017478665	0.79718	0.216946985338	0.24212	0.409071028233	0.26328	T	0.031281	0.21970	T	-0.175941	0.24341	T	-0.490503	0.23338	T	0.318900674581528	0.25777	T	0.932807	0.74830	D	0.15973319	0.35866	0.24822491	0.50369	0.15973319	0.35865	0.24822491	0.50368	-4.064	0.24757	T	.	.	0.162	0.35746	B	.	.	2.088700	0.26572	17.16	0.98652851427256771	0.44220	0.34932	0.25184	N	ALL	0.201081	0.32776	N	-0.337791809291124	0.27723	1.523366	-0.276746366106922	0.28866	1.612787	0.999999999814558	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.02	3.06	0.34374	0.132000	0.15716	3.029000	0.36034	0.676000	0.76740	0.311000	0.25423	1.000000	0.68203	0.983000	0.59808	0.172:0.193:0.635:0.0	6.099	0.19262	463	0.78548	Glycerophosphodiester phosphodiesterase 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	.	.	.	.	.	.	.	.	0.05	934.43	36	chr16	19521765	.	G	C	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.226;DP=387;ExcessHet=0;FS=1.974;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.236;SOR=0.446	GT:AD:DP:GQ:PL	0/1:33,38:71:99:946,0,872	9	0	1	0
chr16	22534661	22534661	C	T	exonic	NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon7:c.C1678T:p.L560F	.	632	886	4	0	0	4	0.00225225	.	.	.	2199782	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.0197464083347	.	.	0.0007	0.0001	0.0006	0	0.0003	0.0009	0	0.0010	3.84e-05	1	26028	rs773814768	1.189e-05	0.0002	8.359e-06	1.544e-05	1.177e-05	7.24e-06	5.92e-06	5.4e-06	3.94e-06	0	0	0	0	0.0001	0	1.006e-05	0	1.177e-05	8.27e-05	0.0002	6.504e-05	0.0001	0.0003	4.473e-05	3.339e-05	3.436e-05	2.187e-05	3.112e-05	0	0	0	0	0.0004	0	8.906e-05	0	0.0003	0.009	0.58626	D	0.444	0.35455	T	0.91	0.50240	P	0.849	0.60615	P	.	.	.	.	1	0.08975	N	.	.	.	2.12	0.21473	T	-1.08	0.28084	N	0.099	0.08088	-1.0348	0.18920	T	0.076	0.30397	T	6	0.055642992	0.06113	T	0.019746	0.42191	T	0.049	0.13647	0.129	0.03412	0.0297737177859	0.01360	0.014279047924659663	0.01384	.	.	.	.	.	0.020743	0.16275	T	-0.235913	0.15875	T	-0.576649	0.14846	T	0.264548602178463	0.23513	T	0.744226	0.37818	T	0.10656078	0.25197	0.11276917	0.27212	0.10656078	0.25197	0.11276917	0.27212	-10.283	0.75589	D	.	.	0.621	0.69755	P	.;.;.;.;.	.;.;.;.;.	1.429654	0.18479	13.76	0.98444086571496048	0.41542	0.00150	0.00907	N	AEFI	0.033295	0.03920	N	-0.356110278731193	0.27049	1.480956	-0.565728645102572	0.20389	1.098287	1.64775418838586E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.105000	0.15169	-4.061000	0.02365	0.116000	0.17634	0.008000	0.17931	0.000000	0.08366	0.008000	0.08271	.	.	.	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	0.006046	0.000000	0.006887	0.000000	0.000000	0.008621	0.007692	0.008475	0.05	80.43	50	chr16	22534661	.	C	T	80.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.15;DP=1010;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.48;MQRankSum=1.72;QD=0.26;ReadPosRankSum=-1.736;SOR=0.722	GT:AD:DP:GQ:PL	0/1:280,31:311:92:92,0,8867	9	0	1	0
chr16	23102333	23102333	A	G	exonic	USP31	.	nonsynonymous SNV	USP31:NM_020718:exon6:c.T1220C:p.I407T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0256117430824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.21385	T	0.18	0.29442	T	0.997	0.70673	D	0.932	0.66722	D	.	.	.	.	1	0.81001	D	1.67	0.42885	L	2.99	0.09262	T	0.51	0.02898	N	0.843	0.83885	-1.1154	0.02644	T	0.049	0.20868	T	9	0.7785554	0.77661	D	0.025612	0.48570	D	0.237	0.54074	0.546	0.66015	0.724231701982	0.72178	0.5290314476169267	0.52827	0.946334139909	0.72422	0.814740777016	0.84220	D	0.004558	0.03968	T	0.00952393	0.52960	T	-0.224096	0.52342	T	0.77726674079895	0.44880	D	0.809419	0.45992	T	0.14993371	0.34157	0.27048472	0.52940	0.14993371	0.34157	0.27048472	0.52939	-2.252	0.04300	T	.	.	0.936	0.85539	P	.	.	4.681449	0.74923	26.2	0.99688086119308827	0.79708	0.99133	0.91711	D	AEFBI	0.891293	0.82713	D	0.624988359746946	0.74757	6.187558	0.664192848206461	0.79670	7.132084	0.999999992010536	0.74766	0.706548	0.73137	0	0.601575	0.49859	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	8.911000	0.92272	11.212000	0.89433	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.878	0.70147	388	0.83355	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	.	.	.	.	.	.	.	.	0.05	102.43	34	chr16	23102333	.	A	G	102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.016;DP=473;ExcessHet=0;FS=78.1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.49;SOR=6.932	GT:AD:DP:GQ:PL	0/1:50,22:72:99:114,0,802	9	0	1	0
chr16	29382896	29382896	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C2036G:p.P679R	.	689	831	2	0	0	2	0.00120192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00338371275204	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1319138889	0.0026	0.0026	0.0025	0.0026	0.0038	0.0025	0.0024	0.0034	0.0033	0.0013	0.0013	0.0021	0.0023	0.0044	0.0025	0.0024	0.0026	0.0038	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	1.0	0.00964	T	0.722	0.05309	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.975	0.01213	N	2.62	0.12988	T	0.99	0.01428	N	0.092	0.07125	-0.9788	0.35277	T	0.009	0.03315	T	5	0.016945839	0.00359	T	0.003384	0.07572	T	0.014	0.01968	0.225	0.14960	0.0920862733494	0.08535	8.989731297647607E-4	0.00082	.	.	.	.	.	0.002448	0.01836	T	-0.746762	0.00019	T	-0.858678	0.00857	T	0.00483012331644523	0.00052	T	0.392661	0.09777	T	0.13408391	0.31165	0.1301983	0.31290	0.13408391	0.31164	0.1301983	0.31289	-4.69	0.33283	T	.	.	0.113	0.22428	B	.	.	-0.188395	0.03150	0.510	0.36059330440144027	0.02298	0.00081	0.00551	N	AEFI	0.027544	0.02270	N	-1.58447936351063	0.01344	0.0585523	-1.68840555836015	0.01189	0.05353436	3.42973070349647E-5	0.03775	0.722319	0.85440	0	0.698795	0.70079	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	.	.	.	-1.293000	0.02878	-7.379000	0.01169	-1.143000	0.01438	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	210.43	21	chr16	29382896	.	G	C	210.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.54;DP=314;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=42.58;MQRankSum=-0.631;QD=6.19;ReadPosRankSum=0.783;SOR=0.941	GT:AD:DP:GQ:PL	0/1:25,9:34:99:222,0,623	9	0	1	0
chr16	29807125	29807125	C	A	exonic	MAZ	.	nonsynonymous SNV	MAZ:NM_001042539:exon2:c.C340A:p.P114T,MAZ:NM_002383:exon2:c.C340A:p.P114T,MAZ:NM_001276275:exon3:c.C271A:p.P91T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0503178052601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.029e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.049	0.50226	D	0.007	0.14184	B	0.004	0.10090	B	0.880915	0.08756	N	0.902838	1	0.21372	N	0	0.06538	N	2.99	0.09915	T	-0.13	0.08971	N	0.277	0.31702	-0.9533	0.40398	T	0.015	0.05897	T	10	0.10561094	0.19529	T	0.050318	0.64189	D	0.021	0.04004	0.312	0.28612	0.255117706274	0.25116	0.5748603486280593	0.57415	1.06235581536	0.76527	0.908433318138	0.97320	D	0.10302	0.41128	T	-0.13279	0.31044	T	-0.42852	0.30104	T	0.141565995737493	0.16409	T	0.578142	0.20837	T	0.07058305	0.15560	0.1166431	0.28159	0.07058305	0.15559	0.1166431	0.28158	-4.972	0.37346	T	.	.	0.121	0.25232	B	.;.;.	.;.;.	1.705730	0.21725	15.32	0.93604252434651758	0.23463	0.28318	0.23521	N	AEFDBHCI	0.084877	0.17204	N	-1.05354154043279	0.07518	0.3495141	-1.06885490035928	0.08319	0.4084994	0.99999862011807	0.74766	0.242642	0.04205	2	0.166054	0.03914	2	0.391439	0.06340	0	0.621717	0.48901	0	.	.	2.43	1.45	0.21708	0.723000	0.25609	2.466000	0.32876	0.175000	0.17779	0.003000	0.16062	1.000000	0.68203	0.223000	0.22544	0.0:0.8227:0.0:0.1773	5.545	0.16346	280	0.88949	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	45.65	2	chr16	29807125	.	C	A	45.65	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.66;DP=90;ExcessHet=0;FS=0;InbreedingCoeff=-0.0696;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=1.6;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:29807118_C_T:57,0,372:29807118	9	0	1	0
chr16	29813701	29813701	C	T	exonic	PRRT2	.	nonsynonymous SNV	PRRT2:NM_001256442:exon2:c.C647T:p.P216L,PRRT2:NM_001256443:exon2:c.C647T:p.P216L,PRRT2:NM_145239:exon2:c.C647T:p.P216L	Convulsions, familial infantile, with paroxysmal choreoathetosis, Autosomal dominant;Episodic kinesigenic dyskinesia 1, Autosomal dominant;Seizures, benign familial infantile, 2, Autosomal dominant	0	1502	15	0	5	20	0.00496853	.	.	YES	102388	Seizure|Infantile_convulsions_and_choreoathetosis|Seizures,_benign_familial_infantile,_2|Episodic_kinesigenic_dyskinesia_1|Episodic_kinesigenic_dyskinesia|not_provided|Inborn_genetic_diseases|not_specified	Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066,Orphanet:31709|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751,Orphanet:306|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200,Orphanet:98809|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200,Orphanet:98809|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.341	.	0.0057	0.00239617	0.0077	0.0015	0.0013	0.0001	0.0137	0.0111	0.0043	0.0036	0.006507	1006	154602	rs76335820	0.0096	0.0095	0.0097	0.0095	0.0112	0.0095	0.0094	0.0110	0.0109	0.0011	0.0027	0.0007	0	0.0128	0.0027	0.0112	0.0063	0.0035	0.0063	0.0063	0.0066	0.0060	0.0097	0.0060	0.0059	0.0091	0.0089	0.0017	0	0.0041	0.0012	0	0.0130	0.0034	0.0097	0.0047	0.0039	0.0	0.91255	D	0.015	0.66756	D	0.991	0.67487	D	0.831	0.65474	P	0.007550	0.31331	N	0.303702	0.999938	0.51612	D	0.895	0.22405	L	-2.78	0.92667	D	0.38	0.06612	N	0.323	0.36464	0.402	0.89119	D	0.622	0.86676	D	10	0.008844793	0.00200	T	.	.	.	0.341	0.66297	.	.	0.976547370802	0.97629	0.3560511839605567	0.35519	0.863688015342	0.69086	0.577106118202	0.49677	T	0.021672	0.16835	T	-0.235469	0.15931	T	-0.100624	0.63350	T	0.0210694334475294	0.00809	T	0.838216	0.51127	T	0.22146279	0.44724	0.3419317	0.59926	0.19322316	0.41023	0.3408161	0.59829	-3.693	0.22152	T	0.4533608968774695	0.53679	0.181	0.62888	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.490871	0.70148	25.5	0.99884238346807741	0.95970	0.74011	0.36201	D	AEFBI	0.507554	0.53780	D	0.233231505349053	0.52814	3.453444	0.190139361039524	0.49306	3.135342	0.999999995407312	0.74766	0.766844	0.99359	0	0.514364	0.08380	0	0.851219	0.99655	0	0.613276	0.41899	0	.	.	3.9	3.9	0.44240	2.276000	0.43067	7.643000	0.63297	0.599000	0.40250	0.144000	0.23566	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.795	0.62654	258	0.89879	.;.;.;.;.;.;.;.;.	.	.	.	.	rs76335820	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	.	.	.	.	.	.	.	.	0.05	871.43	34	chr16	29813701	.	C	T	871.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.806;DP=415;ExcessHet=0;FS=4.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=1;SOR=0.662	GT:AD:DP:GQ:PL	0/1:36,33:69:99:883,0,988	9	0	1	0
chr16	31508226	31508226	C	T	exonic	RUSF1	.	nonsynonymous SNV	RUSF1:NM_022744:exon1:c.G148A:p.V50I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	.	0.00139776	0.0030	0	0	0.0254	0.0510	0.0030	0.0056	0.0002	0.0011384	176	154602	rs181629545	0.0009	0.0009	0.0010	0.0008	0.0102	0.0008	0.0008	0.0093	0.0090	3.118e-05	0	0.0011	0.0102	0.0083	0.0011	0.0003	0.0012	0.0003	0.0011	0.0011	0.0010	0.0013	0.0060	0.0010	0.0009	0.0043	0.0038	0	0	0	0.0023	0.0060	0.0059	0	0.0010	0.0014	0.0004	0.052	0.39097	T	0.767	0.04523	T	0.039	0.21116	B	0.018	0.18489	B	0.324342	0.04093	N	1.414190	1	0.19694	N	.	.	.	0.92	0.44461	T	-0.21	0.10308	N	0.134	0.13484	-1.0534	0.13466	T	0.047	0.20116	T	10	0.003571093	0.00064	T	.	.	.	0.041	0.10877	.	.	0.101711395817	0.09552	0.1551200169064236	0.15433	0.0826006569222	0.09321	.	.	.	0.011833	0.11608	T	-0.621778	0.00107	T	-0.660791	0.08212	T	0.0102453667879436	0.00139	T	0.585341	0.21331	T	0.024682693	0.01325	0.03027782	0.01464	0.024682693	0.01325	0.03027782	0.01464	-5.179	0.38728	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	1.086255	0.14694	11.25	0.9898733147692732	0.49861	0.07952	0.13936	N	AEFDGBHCI	0.047239	0.07931	N	-1.01712099735147	0.08248	0.3860756	-1.03380154731602	0.09047	0.4480008	0.99999999999805	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.99	0.714	0.17336	0.067000	0.14378	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.0:0.5649:0.1618:0.2733	4.516	0.11344	342	0.85871	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002060	0.000000	0.000000	0.005952	0.000000	0.000000	0.003165	0.003788	0.05	695.43	33	chr16	31508226	.	C	T	695.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.388;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.711;SOR=0.756	GT:AD:DP:GQ:PL	0/1:28,29:57:99:707,0,707	9	0	1	0
chr16	57061497	57061497	G	A	exonic	NLRC5	.	nonsynonymous SNV	NLRC5:NM_001384958:exon29:c.G3862A:p.G1288S,NLRC5:NM_001384959:exon29:c.G3859A:p.G1287S,NLRC5:NM_001384960:exon29:c.G3859A:p.G1287S,NLRC5:NM_001330552:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384951:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384954:exon30:c.G3952A:p.G1318S,NLRC5:NM_001384956:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384965:exon30:c.G3952A:p.G1318S,NLRC5:NM_001384966:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384967:exon30:c.G3946A:p.G1316S,NLRC5:NM_001384968:exon30:c.G3943A:p.G1315S,NLRC5:NM_001384971:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384972:exon30:c.G3709A:p.G1237S,NLRC5:NM_001384950:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384952:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384953:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384955:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384957:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384961:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384962:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384963:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384964:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384969:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384970:exon31:c.G4033A:p.G1345S,NLRC5:NM_032206:exon31:c.G4036A:p.G1346S	.	417	1085	19	1	0	21	0.00958466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0006	0.00519169	0.0024	0.0002	0.0008	0	0.0002	0.0013	0.0022	0.0114	0.0022251	344	154602	rs140644178	0.0014	0.0014	0.0010	0.0017	0.0097	0.0013	0.0013	0.0092	0.0090	0.0003	0.0013	0.0013	2.519e-05	0	0.0043	0.0008	0.0019	0.0097	0.0012	0.0012	0.0011	0.0014	0.0149	0.0011	0.0010	0.0121	0.0111	0.0001	0	0.0024	0.0006	0	0	0.0034	0.0009	0.0038	0.0149	0.581	0.09430	T	0.763	0.14961	T	0.009	0.15093	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	0.59	0.53943	T	-0.55	0.16799	N	0.108	0.09349	-1.0114	0.26478	T	0.031	0.13418	T	9	0.0045095086	0.00093	T	.	.	.	0.027	0.05988	.	.	0.178374595973	0.17440	0.1994328234203873	0.19860	0.244945792748	0.27014	0.247742697597	0.03533	T	0.002731	0.11287	T	-0.495399	0.00607	T	-0.476421	0.24828	T	0.00213010454997645	0.00022	T	0.740526	0.36808	T	0.032330096	0.03238	0.03416993	0.02437	0.032330096	0.03238	0.03416993	0.02437	-4.083	0.25039	T	.	.	0.091	0.16275	B	.;.;.;.;.	.;.;.;.;.	0.390010	0.07614	4.278	0.93016140442936501	0.22612	0.03277	0.08320	N	ALL	0.039478	0.05739	N	-0.919301168992132	0.10392	0.4963277	-1.11312710605194	0.07449	0.362362	0.999999999999988	0.74766	0.740787	0.97801	0	0.697927	0.68747	0	0.767554	0.98243	0	0.669	0.65921	0	.	.	4.55	-6.84	0.01527	-0.443000	0.06935	-0.487000	0.08883	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.3196:0.3866:0.1737:0.1202	2.167	0.03605	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	0	0	0	1	0	0	0	0.003033	0.000000	0.004076	0.002924	0.000000	0.000000	0.003086	0.003788	0.1	2024.12	34	chr16	57061497	.	G	A	2024.12	.	AC=2;AF=0.1;AN=20;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.18;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,61:61:99:2047,183,0	9	1	0	0
chr16	66549982	66549982	G	A	exonic	TK2	.	nonsynonymous SNV	TK2:NM_001172644:exon1:c.C80T:p.S27L,TK2:NM_001172645:exon1:c.C80T:p.S27L,TK2:NM_004614:exon1:c.C80T:p.S27L	Mitochondrial DNA depletion syndrome 2 (myopathic type), Autosomal recessive	14	1502	6	0	0	6	0.00199336	.	.	.	1188389	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.311	0.566043445151	.	0.000798722	0.0010	0	0	0	0	0.0007	0	0.0013	0.0001294	20	154602	rs191573607	0.0003	0.0003	0.0002	0.0003	0.0027	0.0002	0.0002	0.0015	0.0012	0.0001	0.0012	0	0	0	0.0027	0.0002	0.0004	0.0010	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0008	0.0007	7.215e-05	0	0.0012	0	0	0	0.0034	0.0004	0	0.0012	0.084	0.32929	T	0.165	0.33219	T	0.967	0.56408	D	0.879	0.62418	P	0.023304	0.01590	N	3.064230	1	0.19486	N	1.935	0.51832	L	-5.07	0.98648	D	-1.34	0.33401	N	0.11	0.20660	0.657	0.92635	D	0.879	0.95999	D	10	0.028015554	0.00938	T	0.566043	0.96057	D	0.311	0.63269	.	.	0.913854725395	0.91299	0.30178548622754714	0.30091	0.314377265389	0.33721	0.726078927517	0.70934	T	0.201278	0.55911	T	-0.150958	0.28163	T	-0.019696	0.69048	D	0.0696706625261224	0.08605	T	0.767723	0.39623	T	0.08148918	0.18726	0.09696795	0.23061	0.08148918	0.18726	0.09696795	0.23060	-2.793	0.09946	T	.	.	0.102	0.30022	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.736398	0.22098	15.48	0.9968671887541859	0.79641	0.06241	0.12231	N	ALL	0.074689	0.14978	N	-0.714856336112954	0.15603	0.7878187	-0.897867471572601	0.12145	0.6230019	0.999999999821988	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	3.08	-0.0795	0.13044	0.075000	0.14547	0.021000	0.13590	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.2606:0.2211:0.5183:0.0	3.326	0.06651	298	0.88068	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004844	0.000000	0.001497	0.000000	0.000000	0.018182	0.009740	0.004000	0.05	643.43	33	chr16	66549982	.	G	A	643.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.65;DP=310;ExcessHet=0;FS=1.271;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=1.26;SOR=0.442	GT:AD:DP:GQ:PL	0/1:21,26:47:99:655,0,573	9	0	1	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G,NAE1:NM_001286500:exon6:c.A356G:p.D119G,NAE1:NM_003905:exon6:c.A347G:p.D116G,NAE1:NM_001018159:exon7:c.A329G:p.D110G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	71.05	71	chr16	66823281	.	T	C	71.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.852;DP=619;ExcessHet=0;FS=277.236;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=1.23;SOR=8.379	GT:AD:DP:GQ:PL	0/1:107,38:145:82:82,0,2126	8	0	1	1
chr16	66884964	66884964	T	C	exonic	PDP2	.	nonsynonymous SNV	PDP2:NM_001329929:exon2:c.T680C:p.I227T,PDP2:NM_001329930:exon2:c.T680C:p.I227T,PDP2:NM_001329931:exon2:c.T680C:p.I227T,PDP2:NM_001329934:exon2:c.T680C:p.I227T,PDP2:NM_020786:exon2:c.T680C:p.I227T,PDP2:NM_001329928:exon3:c.T680C:p.I227T,PDP2:NM_001329932:exon3:c.T680C:p.I227T,PDP2:NM_001329933:exon3:c.T680C:p.I227T	.	422	1098	2	0	0	2	0.000909918	.	.	.	2431016	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.0027241257486	.	.	8.27e-05	0	0	0	0	9.038e-05	0	0.0002	6.47e-05	10	154602	rs765928014	6.158e-05	6.156e-05	5.038e-05	7.29e-05	0.0012	5.095e-05	4.716e-05	0.0006	0.0004	0	0.0002	0.0007	0	0	0.0012	2.428e-05	9.936e-05	0.0003	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	9.233e-05	0.0005	0.0004	2.405e-05	0	0.0008	0.0009	0	0	0.0034	5.88e-05	0.0005	0.0002	0.256	0.16793	T	0.396	0.17640	T	0.0	0.02946	B	0.002	0.06944	B	0.021138	0.26895	N	0.343617	1	0.08975	N	1.315	0.32790	L	2.87	0.10386	T	-0.76	0.21215	N	0.166	0.17553	-0.9966	0.30865	T	0.019	0.08173	T	10	0.03699884	0.02028	T	0.002724	0.05608	T	0.132	0.35948	.	.	0.371157983038	0.36729	0.4896858394628437	0.48888	0.313891519587	0.33679	0.370409578085	0.20890	T	0.055971	0.30157	T	-0.365557	0.03825	T	-0.466682	0.25875	T	0.0100019275533726	0.00134	T	0.720928	0.33404	T	0.04128912	0.06054	0.057942133	0.10622	0.04128912	0.06053	0.057942133	0.10621	-3.038	0.10596	T	.	.	0.055	0.00368	B	.;.	.;.	0.880098	0.12533	9.062	0.78938773671222995	0.12519	0.30225	0.24027	N	AEFGBI	0.063216	0.12200	N	-0.6682467462043	0.16930	0.8669184	-0.607250935938494	0.19307	1.035249	0.997880027282597	0.36150	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.72	0.397	0.15537	0.816000	0.26924	0.438000	0.18395	0.654000	0.53741	0.232000	0.24664	0.017000	0.20586	0.997000	0.79791	0.0:0.3041:0.0:0.6959	9.635	0.38969	87	0.96348	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase 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	.	.	.	.	.	.	.	.	0.05	3318.43	34	chr16	66884964	.	T	C	3318.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.71;DP=574;ExcessHet=0;FS=5.478;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.278;SOR=0.445	GT:AD:DP:GQ:PL	0/1:97,127:224:99:3330,0,2525	9	0	1	0
chr16	67193474	67193474	T	C	exonic	E2F4	.	nonsynonymous SNV	E2F4:NM_001950:exon4:c.T410C:p.L137S	.	429	1083	9	1	0	11	0.00505282	0.4131	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00950207212434	.	0.000399361	0.0002	0	0.0002	0	0	0.0001	0	0.0005	0.0001358	21	154602	rs202020885	0.0001	0.0001	8.712e-05	0.0001	0.0014	9.333e-05	8.817e-05	0.0007	0.0005	8.961e-05	0.0003	0.0007	0	0	0.0014	4.586e-05	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0006	0.0005	0	0	0.0010	0.0009	0	0	0.0034	0.0002	0.0009	0.0004	0.098	0.30800	T	0.206	0.27056	T	0.917	0.50750	P	0.421	0.45113	B	0.336219	0.14035	N	0.703399	0.999231	0.46406	D	2.27	0.64531	M	2.08	0.20255	T	-2.53	0.54864	D	0.687	0.69300	-1.1134	0.02793	T	0.053	0.22655	T	10	0.19820952	0.35782	T	0.009502	0.24878	T	0.189	0.46613	.	.	0.591791014774	0.58856	0.5366381676944586	0.53588	0.285334489928	0.30943	0.730908751488	0.71639	T	0.235799	0.60314	T	-0.32195	0.06739	T	-0.336072	0.40790	T	0.165641661766972	0.18279	T	0.672333	0.28093	T	0.37023276	0.58602	0.26471442	0.52295	0.37023276	0.58603	0.26471442	0.52294	-11.386	0.81732	D	.	.	0.576	0.67894	P	.	.	5.492211	0.91494	32	0.94090689682085182	0.24246	0.90731	0.52154	D	AEFBCI	0.662610	0.63242	D	0.371654984131442	0.59891	4.172489	0.393942220486383	0.61191	4.315774	0.99999754418992	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	4.81	3.72	0.41857	5.673000	0.67781	5.100000	0.47427	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0914:0.0:0.9086	8.813	0.34137	39	0.97975	E2F transcription factor, CC-MB domain|E2F transcription factor, CC-MB 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	.	.	.	.	.	.	.	.	0.05	2206.43	38	chr16	67193474	.	T	C	2206.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=557;ExcessHet=0;FS=3.046;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.094;SOR=0.513	GT:AD:DP:GQ:PL	0/1:123,96:219:99:2218,0,3016	9	0	1	0
chr16	68867197	68867197	G	A	exonic	TANGO6	.	nonsynonymous SNV	TANGO6:NM_024562:exon4:c.G971A:p.R324Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0370404740952	0.0002	.	0.0003	0	0	0	0	0.0003	0	0.0012	0.0002587	40	154602	rs374162312	0.0002	0.0002	0.0001	0.0002	0.0012	0.0002	0.0002	0.0010	0.0009	0	0.0002	0.0006	5.038e-05	0	0.0012	0.0001	0.0002	0.0012	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	0	0	0.0010	0.0020	0	0	0	5.882e-05	0.0014	0.0004	0.005	0.63226	D	0.016	0.60972	D	0.963	0.55692	D	0.368	0.43478	B	.	.	.	.	0.996995	0.43556	D	2.22	0.62911	M	-0.52	0.70717	T	-1.52	0.36980	N	0.74	0.74007	-0.4870	0.69115	T	0.331	0.69851	T	9	0.21896958	0.38554	T	0.03704	0.57367	D	0.299	0.61955	.	.	0.735056284187	0.73269	0.4900717176195401	0.48927	0.396799894133	0.40792	0.802903413773	0.82407	T	0.04199	0.26039	T	-0.11216	0.34413	T	0.0156724	0.71349	D	0.145185843681111	0.16713	T	0.842116	0.51841	T	0.23003134	0.45751	0.19030544	0.42426	0.23003134	0.45751	0.19030544	0.42425	-7.269	0.55975	T	.	.	0.149	0.32851	B	.	.	4.445512	0.69058	25.3	0.99950671697176829	0.99944	0.94433	0.61150	D	AEFDGBI	0.644734	0.62088	D	0.565766331806595	0.71047	5.591937	0.626015288159323	0.76836	6.564787	0.99974998911823	0.42466	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.83	5.83	0.93059	6.869000	0.75317	5.550000	0.48891	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.879	0.92319	331	0.86429	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2048.43	34	chr16	68867197	.	G	A	2048.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.64;DP=538;ExcessHet=0;FS=3.717;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.98;MQRankSum=0.875;QD=11.51;ReadPosRankSum=0.185;SOR=0.44	GT:AD:DP:GQ:PL	0/1:102,76:178:99:2060,0,2690	9	0	1	0
chr16	69692514	69692516	CAA	-	exonic	NFAT5	.	nonframeshift deletion	NFAT5:NM_001367709:exon12:c.2014_2016del:p.Q681del,NFAT5:NM_006599:exon12:c.2635_2637del:p.Q888del,NFAT5:NM_001113178:exon13:c.2686_2688del:p.Q905del,NFAT5:NM_138713:exon13:c.2689_2691del:p.Q906del,NFAT5:NM_173214:exon13:c.2407_2409del:p.Q812del,NFAT5:NM_173215:exon13:c.2407_2409del:p.Q812del,NFAT5:NM_138714:exon14:c.2407_2409del:p.Q812del	.	399	1117	6	0	0	6	0.00267857	.	.	.	466617	NFAT5-related_disorder|Immunodeficiency	.|Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0014	0.000998403	0.0014	0.0005	0.0002	0	0.0036	0.0020	0.0011	6.058e-05	0.0008068	21	26028	rs542353221	0.0014	0.0014	0.0014	0.0014	0.0017	0.0013	0.0013	0.0014	0.0014	0.0002	0.0002	0.0044	0	0.0026	0.0017	0.0015	0.0017	0.0001	0.0011	0.0011	0.0010	0.0013	0.0013	0.0010	0.0010	0.0011	0.0010	0.0003	0.0011	0.0002	0.0043	0	0.0043	0	0.0013	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.1	4364.1	160	chr16	69692513	.	TCAA	T	4364.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.18;DP=580;ExcessHet=0.2348;FS=8.259;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=1.23;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,53:118:99:.:.:1952,0,2420:.	8	0	2	0
chr16	70156667	70156667	C	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.C2128T:p.R710C,PDPR:NM_001322119:exon17:c.C1222T:p.R408C,PDPR:NM_001322117:exon19:c.C2428T:p.R810C,PDPR:NM_017990:exon19:c.C2428T:p.R810C	.	411	1064	47	0	0	47	0.0216092	.	.	.	3214454	not_provided|PDPR-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.593	.	0.0056	0.00419329	0.0061	0.0051	0.0043	0.0002	0.0018	0.0076	0.0156	0.0065	0.0056209	869	154602	rs141395281	0.0049	0.0062	0.0048	0.0050	0.0207	0.0048	0.0048	0.0177	0.0165	0.0054	0.0050	0.0219	7.557e-05	0.0009	0.0207	0.0046	0.0071	0.0057	0.0054	0.0063	0.0056	0.0052	0.0062	0.0051	0.0050	0.0051	0.0049	0.0048	0	0.0062	0.0196	0.0006	0.0006	0.0377	0.0056	0.0171	0.0058	0.0	0.91255	D	0.0	0.92824	D	0.344	0.33532	B	0.108	0.31289	B	0.000002	0.62929	D	0.060606	1	0.81001	D	1.425	0.35738	L	-1.17	0.78199	T	-4.37	0.81835	D	0.76	0.91162	-0.2061	0.77514	T	0.364	0.72506	T	10	0.008982539	0.00203	T	.	.	.	0.593	0.83802	.	.	0.843224510663	0.84172	0.8173182629007808	0.81688	0.371021257662	0.38606	0.767588675022	0.77064	T	0.34377	0.86264	T	0.037008	0.56652	T	0.282856	0.87274	D	0.0339612259325702	0.02631	T	0.961904	0.90356	D	0.41766918	0.61936	0.32478216	0.58399	0.43338367	0.62974	0.32478216	0.58399	-7.755	0.59389	D	.	.	0.195	0.44358	B	.;.;.;.;.	.;.;.;.;.	4.635750	0.73751	26.0	0.98498878817887714	0.42192	0.95003	0.63085	D	AEFDGBCI	0.788991	0.71831	D	0.280073968342618	0.55139	3.678235	0.379189621332959	0.60284	4.214227	0.999999999993714	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.756000	0.61902	7.546000	0.60178	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.1473:0.8526:0.0:0.0	14.406	0.66651	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.033736	0.030303	0.047554	0.043860	0.000000	0.034483	0.030488	0.007576	0.1	3976.14	399	chr16	70156667	.	C	T	3976.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.25;DP=1210;ExcessHet=0.2348;FS=0.618;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0.903;SOR=0.755	GT:AD:DP:GQ:PL	0/1:342,107:449:99:1994,0,8832	8	0	2	0
chr16	72101588	72101588	C	T	exonic	DHX38	.	nonsynonymous SNV	DHX38:NM_014003:exon11:c.C1475T:p.T492M	.	426	1091	5	0	0	5	0.00228624	.	.	.	703801	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.077	.	0.0043	0.00199681	0.0041	0.0018	0.0123	0	0	0.0079	0	0.0006	0.0016817	260	154602	rs36064538	0.0051	0.0049	0.0052	0.0050	0.0069	0.0050	0.0049	0.0055	0.0053	0.0012	0.0062	0.0222	0	0.0003	0.0069	0.0055	0.0055	0.0004	0.0037	0.0037	0.0040	0.0035	0.0063	0.0035	0.0034	0.0053	0.0049	0.0010	0	0.0063	0.0210	0	0	0.0034	0.0050	0.0066	0	0.101	0.30375	T	0.099	0.38891	T	0.939	0.52645	P	0.432	0.45448	B	0.000025	0.55875	D	0.123692	0.972126	0.81001	D	1.15	0.29295	L	0.7	0.51474	T	-1.22	0.30964	N	0.113	0.10056	-0.9634	0.38527	T	0.096	0.36081	T	10	0.008020043	0.00182	T	.	.	.	0.077	0.22490	.	.	0.67851396091	0.67578	0.40572891008073597	0.40488	0.983265258305	0.73816	0.552991390228	0.46280	T	0.080021	0.36266	T	-0.44033	0.01288	T	-0.402668	0.33073	T	0.0155193529123096	0.00352	T	0.952405	0.81824	D	0.073301844	0.16371	0.07847335	0.17579	0.073301844	0.16371	0.07847335	0.17578	-8.732	0.65955	D	0.16751472676943546	0.20893	0.082	0.08851	B	.	.	2.904567	0.38512	20.8	0.99771067097371058	0.85918	0.89709	0.50349	D	AEFDBCI	0.536296	0.55457	D	0.272447451035953	0.54755	3.640533	0.286340007784796	0.54740	3.638229	0.999999506482787	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	4.633000	0.61016	5.840000	0.50240	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.826000	0.38927	0.0:1.0:0.0:0.0	18.460	0.90682	159	0.93837	.	.	.	.	.	.	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	0	0	1	0	0.003863	0.015625	0.003021	0.002994	0.050000	0.000000	0.003401	0.000000	0.05	519.43	35	chr16	72101588	.	C	T	519.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.263;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=1.05;SOR=0.77	GT:AD:DP:GQ:PL	0/1:48,25:73:99:531,0,1187	9	0	1	0
chr16	87411584	87411584	T	A	exonic	ZCCHC14	.	nonsynonymous SNV	ZCCHC14:NM_015144:exon12:c.A3137T:p.Y1046F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.0534924208049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.26	0.23029	T	0.957	0.54824	D	0.751	0.56062	P	0.000000	0.84330	D	0.000000	0.988096	0.40703	D	2.085	0.57729	M	-0.87	0.74583	T	-1.91	0.44471	N	0.516	0.54671	-0.0352	0.81521	T	0.454	0.78691	T	10	0.61476713	0.67643	D	0.053492	0.65491	D	0.563	0.82118	0.779	0.90388	0.411668409108	0.40782	0.6206324303509964	0.61996	0.227799887911	0.25335	0.765096545219	0.76690	T	0.082898	0.36931	T	0.057685	0.59322	T	-0.154916	0.58806	T	0.757155134658669	0.43689	D	.	.	.	0.5891468	0.72104	0.47041318	0.69290	0.5891468	0.72105	0.47041318	0.69290	-7.37	0.56693	T	.	.	0.325	0.54833	B	.	.	3.941169	0.57670	23.9	0.96658128542518373	0.30614	0.98225	0.80702	D	AEFBI	0.526089	0.54859	D	0.578193645553997	0.71815	5.708612	0.60355971946258	0.75198	6.268334	0.999155814938064	0.38592	0.706548	0.73137	0	0.610034	0.51514	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	5.449000	0.66364	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.0:0.0:1.0	15.975	0.79848	840	0.37365	Zinc finger, CCHC-type|Zinc finger, CCHC-type|Zinc finger, CCHC-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	.	.	.	.	.	.	.	.	0.05	1788.43	34	chr16	87411584	.	T	A	1788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.36;DP=467;ExcessHet=0;FS=1.44;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=2.5;SOR=0.565	GT:AD:DP:GQ:PL	0/1:58,62:120:99:1800,0,1503	9	0	1	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T,ANKRD11:NM_013275:exon9:c.T2381C:p.I794T,ANKRD11:NM_001256182:exon10:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3802387	KBG_syndrome	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	511.05	100	chr16	89284161	.	A	G	511.05	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.69;DP=875;ExcessHet=1.5895;FS=276.627;InbreedingCoeff=-0.4635;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=0.605;SOR=9.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,35:136:99:.:.:234,0,2111:.	2	0	4	4
chr16	89635963	89635963	G	A	exonic	DPEP1	.	nonsynonymous SNV	DPEP1:NM_001128141:exon3:c.G160A:p.E54K,DPEP1:NM_004413:exon3:c.G160A:p.E54K	.	10	1511	1	0	0	1	0.000330797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00427051365759	.	0.000199681	8.647e-06	0	0	0	0	1.567e-05	0	0	1.29e-05	2	154602	rs543287105	6.165e-06	6.156e-06	1.363e-06	1.102e-05	2.987e-05	2.9e-06	2.1e-06	3.85e-06	1.44e-06	2.987e-05	0	0	0	0	0	2.699e-06	4.971e-05	2.32e-05	2.627e-05	2.625e-05	2.571e-05	2.686e-05	4.412e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.406e-05	0	0	0	0	0	0	4.412e-05	0	0	0.922	0.02401	T	0.919	0.02891	T	0.002	0.09854	B	0.001	0.04355	B	0.003095	0.00938	N	3.785520	1	0.08975	N	0.58	0.15352	N	1.98	0.21865	T	0.11	0.05706	N	0.239	0.26957	-1.0048	0.28517	T	0.019	0.07753	T	10	0.02837187	0.00970	T	0.004271	0.10341	T	0.055	0.15663	0.426	0.47185	0.0138822411134	0.00435	0.5320848440043381	0.53133	0.0177054203931	0.01731	0.278299212456	0.07256	T	0.008936	0.20067	T	-0.320303	0.06872	T	-0.59724	0.13045	T	0.0264043073295191	0.01461	T	0.491551	0.15238	T	0.12942885	0.30229	0.055125687	0.09611	0.12942885	0.30229	0.055125687	0.09610	-3.591	0.17727	T	.	.	0.083	0.10642	B	.;.;.;.;.	.;.;.;.;.	-1.437322	0.00334	0.006	0.51216746964292315	0.04523	0.01529	0.05035	N	AEFDGBI	0.139843	0.26157	N	-2.08727219272989	0.00137	0.005847158	-2.17738951095074	0.00126	0.005529028	0.999999998915971	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.25	-10.5	0.00234	-4.847000	0.00208	-8.449000	0.00968	-1.777000	0.00657	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3515:0.3746:0.0956:0.1783	2.740	0.04929	814	0.42100	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2245.43	35	chr16	89635963	.	G	A	2245.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.422;DP=521;ExcessHet=0;FS=3.174;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.692;SOR=0.496	GT:AD:DP:GQ:PL	0/1:110,95:205:99:2257,0,2554	9	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	0.05	1318.43	36	chr16	89746685	.	G	C	1318.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.334;DP=445;ExcessHet=0;FS=1.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.224;SOR=0.516	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1330,0,1369	9	0	1	0
chr17	413822	413825	CCCG	-	exonic	C17orf97	.	frameshift deletion	C17orf97:NM_001013672:exon2:c.979_982del:p.P327Tfs*90	.	468	989	60	4	1	69	0.0332356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0027	0.0034	0.0011	0.0004	0.0018	0.0016	0.0059	0.0013907	215	154602	.	0.0007	0.0008	0.0006	0.0008	0.0023	0.0007	0.0007	0.0019	0.0017	0.0021	0.0007	0.0035	0.0023	0.0008	0.0011	0.0005	0.0011	0.0007	0.0005	0.0010	0.0006	0.0005	0.0015	0.0004	0.0004	0.0007	0.0006	0.0006	0	0.0011	0.0006	0.0002	0.0003	0	0.0004	0.0005	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	101.87	27	chr17	413821	.	CCCCG	C	101.87	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=368;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=57.01;MQRankSum=-3.309;QD=0.8;ReadPosRankSum=0.705;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,4:25:99:0|1:413815_C_T:113,0,707:413815	9	0	1	0
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1471.33	24	chr17	413822	.	C	*	1471.33	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.409;DP=372;ExcessHet=4.5998;FS=1.22;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=45.38;MQRankSum=1.5;QD=8.36;ReadPosRankSum=-0.803;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,4:25:99:0|1:413815_C_T:113,0,707:413815	6	0	4	0
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1474.36	25	chr17	413824	.	C	*	1474.36	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.338;DP=372;ExcessHet=4.5998;FS=1.203;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=44.73;MQRankSum=1.75;QD=8.19;ReadPosRankSum=-0.836;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,4:25:99:0|1:413815_C_T:113,0,707:413815	6	0	4	0
chr17	413827	413836	CCCCAAGGCC	-	exonic	C17orf97	.	frameshift deletion	C17orf97:NM_001013672:exon2:c.984_993del:p.P329Sfs*86	.	483	974	60	4	1	69	0.0337302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0028	0.0034	0.0011	0.0004	0.0018	0.0016	0.0060	.	.	.	.	0.0006	0.0007	0.0005	0.0007	0.0021	0.0006	0.0005	0.0017	0.0015	0.0018	0.0007	0.0032	0.0021	0.0007	0.0007	0.0004	0.0009	0.0006	0.0006	0.0010	0.0006	0.0006	0.0014	0.0005	0.0005	0.0008	0.0007	0.0007	0	0.0013	0.0007	0.0003	0.0004	0	0.0004	0.0012	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	89.87	25	chr17	413826	.	ACCCCAAGGCC	A	89.87	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.198;DP=374;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=57.43;MQRankSum=-3.639;QD=0.69;ReadPosRankSum=0.62;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,4:29:99:0|1:413815_C_T:101,0,875:413815	9	0	1	0
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	1428.57	27	chr17	413831	.	A	*	1428.57	.	AC=4;AF=0.222;AN=18;BaseQRankSum=0.855;DP=385;ExcessHet=5.3821;FS=0.556;InbreedingCoeff=-0.4815;MLEAC=4;MLEAF=0.222;MQ=45.68;MQRankSum=0.554;QD=7.64;ReadPosRankSum=-1.636;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,4:29:99:0|1:413815_C_T:101,0,875:413815	5	0	4	1
chr17	413839	413854	CAAGGGCTTCCACCCC	-	exonic	C17orf97	.	frameshift deletion	C17orf97:NM_001013672:exon2:c.996_1011del:p.K333Tfs*80	.	529	930	58	4	1	67	0.0342679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0025	0.0035	0.0011	0.0004	0.0018	0.0016	0.0060	0.0013389	207	154602	.	0.0004	0.0006	0.0003	0.0004	0.0015	0.0004	0.0004	0.0011	0.0010	0.0013	0.0005	0.0026	0.0015	0.0006	0.0002	0.0003	0.0008	0.0004	0.0007	0.0010	0.0007	0.0007	0.0022	0.0005	0.0005	0.0009	0.0006	0.0008	0	0.0012	0.0004	0.0007	0.0007	0	0.0004	0.0006	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	71.87	38	chr17	413838	.	TCAAGGGCTTCCACCCC	T	71.87	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.84;DP=387;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=57.25;MQRankSum=-3.407;QD=0.52;ReadPosRankSum=0.427;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,4:35:83:0|1:413815_C_T:83,0,1126:413815	9	0	1	0
chr17	3092169	3092169	C	T	exonic	OR1D2	.	nonsynonymous SNV	OR1D2:NM_002548:exon1:c.G828A:p.M276I	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00129143392044	0.0004	0.000998403	0.0010	0.0002	0	0	0	0.0003	0	0.0060	0.000925	143	154602	rs140897582	0.0005	0.0005	0.0004	0.0007	0.0056	0.0005	0.0005	0.0052	0.0050	2.989e-05	2.236e-05	0	0	0	0.0014	0.0002	0.0005	0.0056	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0018	0.0014	4.812e-05	0	0	0	0	0	0.0034	0.0004	0.0009	0.0029	0.144	0.25255	T	0.108	0.37589	T	0.343	0.33512	B	0.345	0.42592	B	.	.	.	.	0.976449	0.25374	N	1.625	0.41611	L	8.74	0.00084	T	-2.5	0.54382	D	0.151	0.15469	-1.0214	0.23259	T	0.000	0.00152	T	9	0.0083501935	0.00189	T	0.001291	0.01784	T	0.079	0.23065	0.559	0.67821	0.389596023526	0.38570	0.13124644139255676	0.13049	0.0867180676216	0.09781	0.277855277061	0.07195	T	0.013744	0.11830	T	-0.573931	0.00210	T	-0.594021	0.13320	T	0.0425831661824	0.04161	T	0.740526	0.35940	T	0.15199827	0.34525	0.25827968	0.51558	0.15199827	0.34525	0.25827968	0.51557	-5.981	0.46121	T	.	.	0.456	0.63038	A	.;.;.	.;.;.	2.320165	0.29709	18.21	0.98322250183813209	0.40251	0.32965	0.24714	N	AEFBI	0.121623	0.23638	N	-0.283688715723594	0.29778	1.654415	-0.279147623740696	0.28786	1.607708	2.792504398158E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.21	2.14	0.26518	-0.196000	0.09533	0.188000	0.15711	0.526000	0.24426	0.094000	0.22667	0.956000	0.29165	0.920000	0.45560	0.206:0.4723:0.2008:0.1209	1.958	0.03176	793	0.45818	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	2421.43	34	chr17	3092169	.	C	T	2421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.826;DP=534;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-1.802;SOR=0.602	GT:AD:DP:GQ:PL	0/1:103,96:199:99:2433,0,2859	9	0	1	0
chr17	3278793	3278793	G	A	exonic	OR3A2	.	nonsynonymous SNV	OR3A2:NM_002551:exon1:c.C143T:p.T48I	.	446	1060	15	1	0	17	0.00795508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	.	.	0.0061901	0.0115	0.0030	0.0062	0.0253	0.0023	0.0078	0.0032	0.0376	0.0024973	65	26028	rs62089500	0.0045	0.0045	0.0042	0.0048	0.0165	0.0044	0.0044	0.0154	0.0150	0.0012	0.0023	0.0046	0.0165	0.0005	0.0050	0.0037	0.0041	0.0149	0.0028	0.0030	0.0027	0.0028	0.0128	0.0025	0.0024	0.0099	0.0089	0.0006	0	0.0017	0.0036	0.0118	0.0005	0.0104	0.0032	0.0021	0.0128	0.298	0.14595	T	0.141	0.33442	T	0.0	0.02946	B	0.0	0.01387	B	0.071925	0.21441	N	0.332811	1	0.08975	N	-1.48	0.00527	N	7.89	0.00329	T	1.86	0.00478	N	0.042	0.01498	-0.9619	0.38819	T	0.000	0.00011	T	10	0.0030370057	0.00050	T	.	.	.	0.140	0.37593	.	.	0.0675242888579	0.06100	0.08274056145003264	0.08209	0.794837845557	0.65999	0.19403898716	0.00305	T	0.002841	0.02237	T	-0.684027	0.00045	T	-0.741708	0.03819	T	0.00969862139160002	0.00127	T	0.030097	0.15191	T	0.023716258	0.01135	0.0437675	0.05519	0.023716258	0.01135	0.0437675	0.05519	-1.229	0.01292	T	.	.	0.075	0.07697	B	.;.;.;.	.;.;.;.	0.620741	0.09894	6.652	0.98459852083566546	0.41722	0.00144	0.00877	N	AEFGI	0.040899	0.06148	N	-0.979664583794467	0.09038	0.4261493	-0.775832922645994	0.15089	0.7918076	0.0014842991609455	0.08576	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.89	4.89	0.63387	5.070000	0.64205	1.372000	0.25964	-1.669000	0.00802	0.417000	0.26305	0.000000	0.08366	0.102000	0.18378	0.9186:0.0:0.0814:0.0	9.970	0.40916	641	0.64016	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005166	0.000000	0.002747	0.000000	0.000000	0.008772	0.018657	0.012000	0.05556	472.05	38	chr17	3278793	.	G	A	472.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=2.15;DP=339;ExcessHet=0;FS=0;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=36.78;MQRankSum=0.496;QD=10.49;ReadPosRankSum=-1.068;SOR=0.714	GT:AD:DP:GQ:PL	0/1:29,16:45:99:483,0,940	8	0	1	1
chr17	4206366	4206366	C	T	exonic	ANKFY1	.	nonsynonymous SNV	ANKFY1:NM_001257999:exon7:c.G979A:p.V327M,ANKFY1:NM_001330063:exon7:c.G853A:p.V285M,ANKFY1:NM_016376:exon7:c.G853A:p.V285M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0173610553966	.	.	2.485e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs748604686	4.788e-06	4.788e-06	0	9.626e-06	8.115e-05	1.99e-06	1.28e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	0	8.115e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.222	0.25748	T	0.008	0.20732	B	0.013	0.24114	B	0.000746	0.42006	D	0.205089	0.999702	0.48980	D	1.33	0.33268	L	0.57	0.54347	T	-0.07	0.08033	N	0.2	0.24260	-1.0237	0.22508	T	0.107	0.38931	T	10	0.08554861	0.14454	T	0.017361	0.39027	T	0.034	0.08419	0.296	0.26041	0.456980322645	0.45321	0.28500353901814673	0.28413	0.453607085894	0.45050	0.59866476059	0.52715	T	0.040656	0.25599	T	-0.308533	0.07878	T	-0.499435	0.22405	T	0.244089230895042	0.22606	T	0.90471	0.66491	D	0.047101624	0.07995	0.09980401	0.23841	0.047101624	0.07994	0.09980401	0.23841	-4.289	0.29051	T	.	.	0.099	0.23430	B	.;.;.	.;.;.	2.481359	0.31997	18.91	0.97301398699932007	0.33280	0.92908	0.56842	D	AEFDGBI	0.214706	0.34015	N	-0.177151114940266	0.34087	1.941502	-0.0199216524034826	0.38817	2.292365	0.997145836749804	0.35316	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	3.46	0.38718	2.738000	0.47075	2.276000	0.31865	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.971000	0.54645	0.0:0.6873:0.1579:0.1548	6.306	0.20349	351	0.85421	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	.	.	.	.	.	.	.	.	0.05	1639.43	34	chr17	4206366	.	C	T	1639.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.466;DP=434;ExcessHet=0;FS=2.457;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.257;SOR=0.466	GT:AD:DP:GQ:PL	0/1:50,65:115:99:1651,0,1133	9	0	1	0
chr17	4558172	4558172	G	A	exonic	GGT6	.	nonsynonymous SNV	GGT6:NM_153338:exon3:c.C1229T:p.P410L,GGT6:NM_001122890:exon4:c.C1325T:p.P442L,GGT6:NM_001288702:exon4:c.C1343T:p.P448L	.	425	1070	27	0	0	27	0.0124596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0097	0.00459265	0.0076	0.0016	0.0054	0	0.0048	0.0114	0.0133	0.0024	0.007626	1179	154602	rs77762950	0.0091	0.0091	0.0090	0.0092	0.0160	0.0090	0.0089	0.0133	0.0123	0.0017	0.0076	0.0195	2.519e-05	0.0034	0.0160	0.0102	0.0092	0.0026	0.0086	0.0086	0.0084	0.0087	0.0134	0.0082	0.0080	0.0119	0.0113	0.0017	0.1316	0.0134	0.0196	0.0002	0.0044	0.0102	0.0111	0.0137	0.0019	0.018	0.50676	D	0.966	0.02509	T	0.979	0.59044	D	0.747	0.55931	P	0.541062	0.11536	N	0.774976	0.997841	0.22480	N	2.085	0.57729	M	1.92	0.44461	T	-2.82	0.59545	D	0.3	0.41952	-1.0912	0.05335	T	0.054	0.22846	T	10	0.0035294294	0.00063	T	.	.	.	0.097	0.27909	.	.	0.603641259496	0.60047	0.3289904677725707	0.32812	0.217854078565	0.24320	0.282811880112	0.07887	T	0.005573	0.05022	T	-0.549481	0.00294	T	-0.55168	0.17165	T	0.024875988888992	0.01256	T	0.615039	0.23503	T	0.05866649	0.11831	0.10704525	0.25763	0.05866649	0.11830	0.10704525	0.25762	-3.931	0.22768	T	.	.	0.098	0.16407	B	.;.;.;.	.;.;.;.	2.262537	0.28910	17.95	0.9475073979397578	0.25451	0.70330	0.34546	D	AEFDBI	0.233775	0.35664	N	0.186513178198232	0.50551	3.244076	0.167432526251457	0.48072	3.028262	0.999948598767882	0.47345	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.06	4.02	0.45968	1.881000	0.39273	3.783000	0.39798	0.676000	0.76740	0.485000	0.26840	0.998000	0.33993	0.023000	0.12082	0.0:0.0:0.8031:0.1969	10.277	0.42694	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	0.016113	0.010101	0.017663	0.011696	0.050000	0.025862	0.033537	0.007576	0.05	914.43	33	chr17	4558172	.	G	A	914.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.338;DP=401;ExcessHet=0;FS=0.784;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=0.192;SOR=0.574	GT:AD:DP:GQ:PL	0/1:55,39:94:99:926,0,1379	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	2999.71	129	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	2999.71	.	AC=12;AF=0.6;AN=20;BaseQRankSum=-2.686;DP=1317;ExcessHet=0.0952;FS=1.935;InbreedingCoeff=0.3407;MLEAC=12;MLEAF=0.6;MQ=59.44;MQRankSum=0.207;QD=3.86;ReadPosRankSum=-0.518;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,107:107:99:.:.:3714,341,0:.	3	5	2	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1204.92	129	chr17	4933915	.	A	*	1204.92	.	AC=13;AF=0.722;AN=18;BaseQRankSum=-3.635;DP=1346;ExcessHet=1.8123;FS=4.609;InbreedingCoeff=-0.1556;MLEAC=14;MLEAF=0.778;MQ=59.67;MQRankSum=1.23;QD=1.34;ReadPosRankSum=-3.271;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,107:107:99:.:.:3714,341,0:.	1	5	3	1
chr17	7384513	7384513	C	A	exonic	TNK1	.	nonsynonymous SNV	TNK1:NM_001251902:exon7:c.C896A:p.A299D,TNK1:NM_003985:exon7:c.C896A:p.A299D	.	418	1062	39	3	0	45	0.0207469	.	.	.	3217119	TNK1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.354	.	0.0066	0.00299521	0.0114	0.0023	0.0117	0	0.0014	0.0156	0.0215	0.0078	0.005912	914	154602	rs61730812	0.0083	0.0083	0.0084	0.0082	0.0250	0.0082	0.0081	0.0216	0.0203	0.0016	0.0067	0.0095	0	0.0006	0.0250	0.0094	0.0100	0.0036	0.0058	0.0058	0.0066	0.0051	0.0092	0.0055	0.0054	0.0086	0.0084	0.0018	0	0.0065	0.0072	0	0.0004	0.0408	0.0092	0.0142	0.0037	.	.	.	0.216	0.30143	T	0.853	0.48338	P	0.529	0.52771	P	0.028213	0.25637	N	0.280839	0.967537	0.38600	D	0.445	0.12748	N	-1.65	0.82625	D	.	.	.	0.451	0.55019	-0.3939	0.72219	T	0.246	0.61542	T	10	0.0139044225	0.00294	T	.	.	.	.	.	.	.	0.919329187289	0.91851	0.49443603386165175	0.49364	0.812905501583	0.66818	0.624475359917	0.56361	T	0.160806	0.50480	T	-0.29015	0.09621	T	-0.18245	0.56297	T	0.0225062001981507	0.00965	T	.	.	.	0.3468623	0.56822	0.3383932	0.59617	0.3468623	0.56822	0.3383932	0.59617	-7.8	0.59699	D	.	.	0.187	0.44847	B	.;.	.;.	4.194530	0.63243	24.6	0.99758617379124681	0.84851	0.77145	0.37899	D	AEFDGBHCI	0.501372	0.53423	D	-0.0255679916352551	0.40700	2.421557	-0.00384026937174498	0.39541	2.346067	0.999999999639966	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	5.0	4.03	0.46115	2.279000	0.43094	3.265000	0.37119	0.599000	0.40250	0.073000	0.22155	0.996000	0.32793	0.997000	0.79791	0.0:0.9126:0.0:0.0874	11.511	0.49744	192	0.92531	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021277	0.025510	0.015027	0.032164	0.050000	0.034483	0.027607	0.000000	0.1	1039.14	35	chr17	7384513	.	C	A	1039.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.572;DP=381;ExcessHet=0.2348;FS=3.847;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.149;SOR=1.127	GT:AD:DP:GQ:PL	0/1:24,27:51:99:754,0,578	8	0	2	0
chr17	11669184	11669184	G	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon16:c.G2852T:p.G951V	.	.	.	.	.	.	.	.	.	.	.	2126387	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0172393003449	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs540227110	2.189e-05	2.189e-05	2.314e-05	2.063e-05	0.0003	1.584e-05	1.356e-05	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.608e-05	1.656e-05	0	1.314e-05	1.313e-05	1.286e-05	1.344e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0068	0	0	0	0.228	0.19927	T	.	.	.	0.015	0.17086	B	0.027	0.21085	B	0.054734	0.22700	N	0.456028	0.968386	0.38656	D	2.85	0.82803	M	1.81	0.25841	T	-4.32	0.76655	D	0.45	0.49055	-1.0801	0.07330	T	0.076	0.30492	T	10	0.43321574	0.57626	T	0.017239	0.38857	T	0.166	0.42578	0.621	0.75576	0.472344434578	0.46863	0.3050621110836088	0.30419	0.117544897482	0.13241	0.282599121332	0.07857	T	0.105556	0.41613	T	-0.165828	0.25869	T	-0.412331	0.31956	T	0.786688506603241	0.45474	D	0.762524	0.38803	T	0.23088816	0.45851	0.2397623	0.49334	0.23088816	0.45851	0.2397623	0.49333	-6.59	0.50976	T	.	.	0.127	0.26947	B	.;.	.;.	2.243860	0.28652	17.87	0.95039061239198808	0.26044	0.97305	0.73917	D	AEFBI	0.710831	0.66447	D	-0.151638742359047	0.35164	2.016398	-0.0848956892061214	0.36013	2.090538	0.394184133582189	0.20073	0.487112	0.14033	0	0.573888	0.26702	0	0.232529	0.04895	2	0.564101	0.26826	0	.	.	5.6	4.63	0.57175	4.553000	0.60463	2.146000	0.30877	0.676000	0.76740	0.948000	0.32982	0.699000	0.26222	0.867000	0.41218	0.0717:0.1328:0.7955:0.0	10.645	0.44807	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1482.43	34	chr17	11669184	.	G	T	1482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.421;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=2.4;SOR=0.723	GT:AD:DP:GQ:PL	0/1:73,63:136:99:1494,0,1919	9	0	1	0
chr17	14069646	14069646	C	T	exonic	COX10	.	nonsynonymous SNV	COX10:NM_001303:exon1:c.C41T:p.T14I	Leigh syndrome due to mitochondrial COX4 deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial	1	1517	4	0	0	4	0.00131666	0.6031	0.574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0107264595998	.	0.000199681	2.524e-05	0	8.792e-05	0	0	1.53e-05	0	6.136e-05	2.59e-05	4	154602	rs576862251	1.026e-05	1.026e-05	8.168e-06	1.238e-05	0.0005	6.16e-06	4.89e-06	0.0001	7.541e-05	0	2.236e-05	0	0	0	0.0005	5.396e-06	6.623e-05	1.16e-05	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	2.257e-05	9.06e-06	0	0	0.0001	0	0.0002	0	0	0	0	0	0.04	0.42199	D	0.217	0.26145	T	0.003	0.11197	B	0.003	0.08700	B	0.187499	0.16936	N	0.617866	1	0.81001	D	1.7	0.43825	L	1.11	0.38883	T	-0.65	0.18877	N	0.456	0.51405	-0.9933	0.31749	T	0.101	0.37518	T	10	0.13806897	0.26260	T	0.010726	0.27599	T	0.136	0.36778	0.396	0.42262	0.471127988307	0.46741	0.24658202236068966	0.24572	0.271397861311	0.29662	0.524778306484	0.42300	T	0.309629	0.68164	T	-0.216784	0.18435	T	-0.373325	0.36501	T	0.529577195644379	0.33719	D	0.721828	0.33531	T	0.11836129	0.27888	0.23438649	0.48654	0.11836129	0.27888	0.23438649	0.48653	-4.239	0.27313	T	.	.	0.359	0.57167	A	.;.	.;.	4.976475	0.82395	27.8	0.88952674449121938	0.18389	0.49752	0.28505	N	AEFDGBHCI	0.412554	0.48258	N	-0.408937708228879	0.25155	1.363454	-0.328530380839874	0.27181	1.506485	0.99999999998887	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.32	3.34	0.37357	3.533000	0.53317	7.229000	0.57868	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.454000	0.27984	0.0:0.8272:0.1727:0.0	12.2	0.53629	926	0.17793	.;.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	754.14	56	chr17	14069646	.	C	T	754.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.42;DP=389;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=6.67;ReadPosRankSum=0.364;SOR=0.704	GT:AD:DP:GQ:PL	0/1:38,19:57:99:343,0,1039	8	0	2	0
chr17	27647035	27647035	G	T	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_001330163:exon8:c.G579T:p.M193I,LGALS9:NM_002308:exon8:c.G579T:p.M193I,LGALS9:NM_009587:exon9:c.G675T:p.M225I	.	434	1034	53	1	0	55	0.0259067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0028	0.00858626	0.0070	0.0003	0.0029	0.0001	0.0024	0.0043	0.0077	0.0308	0.00641	991	154602	rs61736863	0.0047	0.0047	0.0036	0.0057	0.0307	0.0046	0.0045	0.0298	0.0294	0.0006	0.0030	0.0015	5.038e-05	0.0026	0.0243	0.0030	0.0052	0.0307	0.0037	0.0037	0.0032	0.0042	0.0338	0.0035	0.0034	0.0296	0.0280	0.0006	0	0.0033	0.0014	0	0.0028	0.0204	0.0041	0.0057	0.0338	1.0	0.03787	T	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.705616	0.10057	N	0.874683	1	0.08975	N	0.805	0.20218	L	2.88	0.10291	T	-0.92	0.30555	N	0.087	0.10198	-0.9379	0.42947	T	0.014	0.05561	T	10	0.007870913	0.00179	T	.	.	.	0.025	0.05312	0.396	0.42262	0.117506650769	0.11410	0.21356275858387824	0.21272	0.428623133953	0.43178	0.377718806267	0.21933	T	0.057428	0.30565	T	-0.608484	0.00129	T	-0.623824	0.10888	T	0.00143451320405818	0.00014	T	0.717128	0.38135	T	0.24168785	0.47088	0.09407839	0.22253	0.24168785	0.47088	0.09407839	0.22252	-3.734	0.19821	T	.	.	0.213	0.49903	B	.;.;.;.;.	.;.;.;.;.	0.027789	0.04477	1.192	0.7052755038938161	0.09325	0.04884	0.10627	N	AEFDBI	0.042672	0.06650	N	-1.07995783123573	0.07013	0.324544	-1.1025804986439	0.07651	0.3729923	0.189229202955983	0.17978	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.31	-2.32	0.06360	-0.410000	0.07214	-2.454000	0.03734	0.612000	0.49041	0.191000	0.24200	0.000000	0.08366	0.026000	0.12556	0.5182:0.0:0.299:0.1828	3.724	0.07996	253	0.90069	Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition 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	0.016060	0.005208	0.008152	0.033058	0.062500	0.000000	0.031646	0.026718	0.1	7116.14	33	chr17	27647035	.	G	T	7116.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.86;DP=932;ExcessHet=0.2348;FS=1.107;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.623;SOR=0.791	GT:AD:DP:GQ:PL	0/1:163,149:312:99:3734,0,4114	8	0	2	0
chr17	28683349	28683349	C	A	exonic	SUPT6H	.	nonsynonymous SNV	SUPT6H:NM_003170:exon16:c.C1960A:p.L654I,SUPT6H:NM_001320755:exon17:c.C1960A:p.L654I	.	427	1079	15	1	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0168656344412	0.0004	0.000798722	0.0007	0.0002	0.0003	0	0	0.0006	0.0011	0.0027	0.0006986	108	154602	rs141330818	0.0005	0.0005	0.0004	0.0006	0.0057	0.0005	0.0005	0.0042	0.0037	8.961e-05	8.944e-05	0.0003	0	5.616e-05	0.0057	0.0003	0.0010	0.0029	0.0006	0.0007	0.0006	0.0007	0.0033	0.0005	0.0005	0.0021	0.0017	9.625e-05	0.0307	0.0003	0.0003	0	0	0	0.0006	0.0009	0.0033	0.218	0.19090	T	0.246	0.23984	T	0.988	0.62325	D	0.695	0.53983	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	-0.17	0.65563	T	-1.42	0.34992	N	0.85	0.84609	-0.5180	0.67989	T	0.307	0.67795	T	10	0.024487287	0.00675	T	0.016866	0.38326	T	0.254	0.56428	.	.	0.518009022472	0.51444	0.5230107651206027	0.52224	1.61380097712	0.88956	0.765939176083	0.76815	T	0.353115	0.72045	T	-0.172335	0.24881	T	-0.0236881	0.68787	D	0.127058178186417	0.15108	T	0.90061	0.65471	D	0.2382516	0.46701	0.21226041	0.45688	0.2382516	0.46701	0.21226041	0.45687	-10.15	0.74805	D	.	.	0.291	0.52227	B	.;.	.;.	3.760351	0.53956	23.4	0.99350505468094485	0.60574	0.93490	0.58359	D	AEFBCI	0.602556	0.59437	D	0.519913176184342	0.68268	5.193882	0.528584493479893	0.69923	5.429898	0.934179830466613	0.27159	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	2.791000	0.47520	5.996000	0.52409	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.934	0.92551	252	0.90114	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.017241	0.000000	0.003788	0.05	1717.43	76	chr17	28683349	.	C	A	1717.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.184;DP=589;ExcessHet=0;FS=2.14;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.377;SOR=0.494	GT:AD:DP:GQ:PL	0/1:70,70:140:99:1729,0,1858	9	0	1	0
chr17	31937457	31937457	G	A	exonic	SUZ12	.	nonsynonymous SNV	SUZ12:NM_001321207:exon1:c.G211A:p.V71M,SUZ12:NM_015355:exon1:c.G211A:p.V71M	.	367	1147	6	2	0	10	0.00434028	.	.	.	715362	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.334	.	.	0.00319489	0.0048	0	0.0125	0	0.0208	0.0061	0.0049	0.0014	0.0010414	161	154602	rs149833913	0.0044	0.0043	0.0045	0.0043	0.0044	0.0043	0.0043	0.0043	0.0043	0.0005	0.0037	0.0004	2.856e-05	0.0184	0.0033	0.0044	0.0037	0.0020	0.0046	0.0046	0.0041	0.0052	0.0057	0.0043	0.0042	0.0047	0.0044	0.0010	0	0.0057	0.0003	0	0.0190	0	0.0050	0.0071	0.0025	0.02	0.49613	D	0.004	0.74150	D	0.971	0.57185	D	0.543	0.48966	P	0.000121	0.49741	D	0.131460	0.999776	0.48980	D	1.24	0.30952	L	-1.94	0.84919	D	-0.55	0.16799	N	0.257	0.31814	0.037	0.82990	D	0.446	0.78209	T	10	0.006335616	0.00143	T	.	.	.	0.334	0.65620	.	.	0.44480088601	0.44098	0.2840232617009106	0.28315	1.37602116957	0.84662	0.937947750092	0.99375	D	0.14189	0.47719	T	-0.265505	0.12264	T	-0.151821	0.59083	T	0.0172748898418403	0.00468	T	0.927507	0.73308	D	0.15112306	0.34370	0.096347	0.22888	0.15112306	0.34370	0.096347	0.22887	-4.805	0.34650	T	0.2244740095278941	0.30315	0.231	0.46413	B	.;.	.;.	4.487225	0.70057	25.5	0.98600551987052076	0.43493	0.61070	0.31377	D	AEFDGBHCI	0.474341	0.51864	N	0.410107093658854	0.61977	4.406428	0.485971367434512	0.67061	5.033685	0.999999999987799	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	5.13	5.13	0.69729	6.272000	0.72589	11.456000	0.92812	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.573	0.91100	955	0.09969	.;.	.	.	.	.	.	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	0.004860	0.005155	0.000000	0.000000	0.000000	0.000000	0.017241	0.004717	0.05	1738.43	34	chr17	31937457	.	G	A	1738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.429;DP=458;ExcessHet=0;FS=3.918;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=0.14;QD=12.16;ReadPosRankSum=-1.92;SOR=0.954	GT:AD:DP:GQ:PL	0/1:65,78:143:99:1750,0,1424	9	0	1	0
chr17	32772809	32772809	T	C	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon5:c.A598G:p.S200G,MYO1D:NM_001303280:exon5:c.A598G:p.S200G,MYO1D:NM_015194:exon5:c.A598G:p.S200G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.032246938522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.012	0.79402	D	0.238	0.30817	B	0.186	0.36104	B	0.000235	0.47286	U	0.000000	0.999956	0.52396	D	0.88	0.21560	L	-0.67	0.95458	T	-1.36	0.33798	N	0.868	0.86833	-0.5632	0.66282	T	0.262	0.63285	T	10	0.94663495	0.93990	D	0.032247	0.54125	D	0.466	0.76156	0.891	0.97367	0.918392079262	0.91757	0.6648944906029628	0.66426	0.298669409922	0.32248	0.602323949337	0.53232	T	0.463674	0.79953	T	0.292466	0.82359	D	0.18233	0.82130	D	0.773878216743469	0.44673	D	0.892511	0.80045	D	0.2297747	0.45720	0.18961799	0.42318	0.2297747	0.45720	0.18961799	0.42317	-7.313	0.56288	T	.	.	0.142	0.40666	B	.;.;.;.	.;.;.;.	4.253572	0.64587	24.7	0.99747483139176962	0.84002	0.96942	0.71786	D	ALL	0.878137	0.80321	D	0.232848962952929	0.52795	3.45168	0.377921116790731	0.60204	4.20566	0.999999998871527	0.74766	0.722319	0.85440	0	0.623229	0.53319	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.49	5.49	0.81022	7.209000	0.77424	7.870000	0.71911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.537	0.61111	940	0.13648	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, 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	.	.	.	.	.	.	.	.	0.05	90.43	33	chr17	32772809	.	T	C	90.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=499;ExcessHet=0;FS=62.056;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.836;SOR=6.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,17:66:99:0|1:32772809_T_C:102,0,1029:32772809	9	0	1	0
chr17	35129437	35129437	G	C	exonic	FNDC8	.	nonsynonymous SNV	FNDC8:NM_017559:exon3:c.G601C:p.A201P	.	427	1093	1	0	1	2	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00499171307736	.	.	2.475e-05	0	0	0	0	3.001e-05	0	6.08e-05	1.94e-05	3	154602	rs889890231	9.578e-06	9.577e-06	5.445e-06	1.375e-05	3.478e-05	5.56e-06	4.35e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	9.894e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.0	0.92824	D	0.137	0.27402	B	0.066	0.27432	B	0.497884	0.11983	N	0.739630	1	0.08975	N	0.975	0.24501	L	0.96	0.42888	T	-3.08	0.63323	D	0.392	0.43320	-1.0381	0.17893	T	0.050	0.21261	T	10	0.10966945	0.20467	T	0.004992	0.12598	T	0.060	0.17295	0.615	0.74884	0.0138822411134	0.00435	0.34983940081898546	0.34897	0.152324165258	0.17189	0.383623242378	0.22769	T	0.053402	0.29434	T	-0.276282	0.11067	T	-0.504186	0.21915	T	0.14050920794274	0.16319	T	0.539746	0.18256	T	0.28245053	0.51281	0.33366433	0.59201	0.28245053	0.51281	0.33366433	0.59200	-2.217	0.04124	T	.	.	0.376	0.58191	A	.	.	2.010724	0.25550	16.80	0.97358282640090299	0.33558	0.07919	0.13906	N	AEFDBHCI	0.071574	0.14253	N	-0.819087064099475	0.12822	0.6275609	-0.822016559868045	0.13962	0.7271137	0.999577279624649	0.40495	0.660377	0.49826	0	0.694456	0.67091	0	0.489635	0.07774	0	0.592323	0.36904	0	.	.	5.24	-2.38	0.06243	0.373000	0.20215	0.820000	0.21843	0.676000	0.76740	0.020000	0.19661	0.056000	0.21938	0.980000	0.58198	0.1734:0.1374:0.2686:0.4206	1.296	0.01943	925	0.17918	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	.	.	.	.	.	.	.	.	0.1	2047.14	75	chr17	35129437	.	G	C	2047.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.065;DP=455;ExcessHet=0.2348;FS=6.877;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.599;SOR=0.352	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1203,0,1090	8	0	2	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	.	.	.	.	.	.	.	.	0.5	5690.04	86	chr17	37257713	.	C	T	5690.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.669;DP=834;ExcessHet=22.563;FS=449.684;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.076;SOR=12.223	GT:AD:DP:GQ:PL	0/1:41,56:97:99:713,0,413	0	0	10	0
chr17	38330673	38330673	G	C	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.C2896G:p.P966A	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00381030949237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	0.002555	0.36353	N	0.193137	0.999934	0.19363	N	.	.	.	.	.	.	.	.	.	0.251	0.28381	-0.9818	0.34585	T	0.091	0.34792	T	10	0.08269641	0.13678	T	0.00381	0.08899	T	.	.	0.276	0.22845	0.0297737177859	0.01360	0.28297629126376866	0.28210	.	.	0.402156144381	0.25369	T	.	.	.	-0.116101	0.33764	T	-0.404548	0.32855	T	0.275387406349182	0.23977	T	0.582942	0.22396	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.19919	B	.;.	.;.	1.090247	0.14740	11.28	0.82111547911609106	0.14024	0.15139	0.18763	N	AEFDBI	.	.	.	-0.868956875188118	0.11586	0.559946	-0.907134807790512	0.11926	0.6105168	0.99716723041476	0.35335	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.56	3.58	0.40133	0.835000	0.27184	3.101000	0.36319	-0.120000	0.14102	0.024000	0.20007	0.999000	0.35428	0.471000	0.28363	0.0:0.0:0.8222:0.1778	11.665	0.50632	131	0.94738	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2062.43	113	chr17	38330673	.	G	C	2062.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.012;DP=755;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-2.728;SOR=0.78	GT:AD:DP:GQ:PL	0/1:90,76:166:99:2074,0,2511	9	0	1	0
chr17	38673379	38673379	C	A	exonic	EPOP	.	nonsynonymous SNV	EPOP:NM_001130677:exon1:c.G1117T:p.G373W	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0439047214354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.453e-06	1.368e-06	1.433e-06	1.474e-06	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.755e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.30828	T	0.061	0.23190	B	0.045	0.24526	B	.	.	.	.	0.953309	0.26409	N	.	.	.	.	.	.	.	.	.	0.228	0.25622	-1.0285	0.20940	T	0.043	0.18576	T	8	0.0779323	0.12359	T	0.043905	0.61221	D	.	.	0.358	0.36060	0.298403945805	0.29456	0.06849474303153294	0.06787	.	.	.	.	.	0.008645	0.07927	T	-0.163652	0.26199	T	-0.472851	0.25209	T	0.57660037279129	0.35487	D	.	.	.	0.07489867	0.16839	0.11364822	0.27430	0.07489867	0.16838	0.11364822	0.27429	-5.069	0.37579	T	.	.	0.271	0.50481	B	.	.	2.931488	0.38943	20.9	0.93378066088259004	0.23125	0.71730	0.35140	D	AEFDBI	0.333682	0.43269	N	-0.456720031843281	0.23513	1.263197	-0.313873458849024	0.27649	1.535783	0.99820445499228	0.36574	0.608746	0.35421	0	0.627608	0.54475	0	0.619478	0.44681	0	0.620976	0.48614	0	.	.	4.19	2.12	0.26372	2.420000	0.44334	4.161000	0.42211	0.577000	0.29297	0.997000	0.40164	1.000000	0.68203	0.984000	0.60418	0.2177:0.5599:0.0:0.2224	3.276	0.06494	538	0.73119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1443.14	65	chr17	38673379	.	C	A	1443.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.088;DP=437;ExcessHet=0.2348;FS=3.171;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=1.43;SOR=0.474	GT:AD:DP:GQ:PL	0/1:45,38:83:99:844,0,1141	8	0	2	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	.	.	.	.	.	.	.	.	0.1	173.14	149	chr17	41382308	.	A	G	173.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.02;DP=575;ExcessHet=0.2348;FS=186.238;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=2.38;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,19:145:36:0|1:41382308_A_G:36,0,4885:41382308	8	0	2	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	173.14	149	chr17	41382311	.	C	G	173.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.123;DP=571;ExcessHet=0.2348;FS=186.238;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=2.24;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,19:145:36:0|1:41382308_A_G:36,0,4885:41382308	8	0	2	0
chr17	41382313	41382313	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G60C:p.E20D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0112921981246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.07059	T	0.682	0.41464	P	0.142	0.33681	B	.	.	.	.	0.995951	0.23155	N	1.1	0.28011	L	-1.61	0.82254	D	.	.	.	0.319	0.35938	-1.0787	0.07602	T	0.031	0.13330	T	8	0.1758697	0.32541	T	0.011292	0.28764	T	.	.	0.215	0.13498	0.749038299637	0.74677	0.027389334383383892	0.02688	0.0406601577266	0.04362	0.292538791895	0.09292	T	0.021114	0.16497	T	-0.035849	0.46564	T	-0.289271	0.45849	T	0.188235579082126	0.19740	T	0.391661	0.09743	T	0.077502705	0.17596	0.08187276	0.18640	0.077502705	0.17595	0.08187276	0.18640	-4.176	0.26403	T	.	.	0.107	0.19919	B	.	.	1.323781	0.17281	13.07	0.98311074385310038	0.40144	0.83088	0.42236	D	AEFDBCI	0.178885	0.30617	N	-0.267547482617439	0.30410	1.695319	-0.155453402914047	0.33199	1.896604	0.828972100147742	0.24658	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	4.2	0.48814	1.950000	0.39948	0.265000	0.16590	0.596000	0.33519	0.898000	0.31380	0.000000	0.08366	0.407000	0.26939	0.0:0.8322:0.0:0.1678	9.384	0.37494	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	.	.	.	.	.	.	.	.	0.1	172.14	147	chr17	41382313	.	C	G	172.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.711;DP=570;ExcessHet=0.2348;FS=182.992;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=2.09;SOR=7.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,19:144:39:0|1:41382308_A_G:39,0,4863:41382308	8	0	2	0
chr17	42027715	42027715	C	T	exonic	ZNF385C	.	nonsynonymous SNV	ZNF385C:NM_001378270:exon8:c.G1175A:p.R392K	.	414	1100	6	2	0	10	0.00452489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	0.0017	0.00179712	0.0017	0.0005	0.0009	0	0.0015	0.0017	0.0022	0.0041	0.0016753	259	154602	rs151041175	0.0017	0.0017	0.0016	0.0018	0.0049	0.0017	0.0016	0.0046	0.0044	0.0004	0.0012	0.0003	0	0.0015	0.0028	0.0017	0.0013	0.0049	0.0015	0.0015	0.0017	0.0013	0.0046	0.0013	0.0013	0.0031	0.0026	0.0003	0	0.0029	0.0003	0	0.0008	0	0.0019	0.0024	0.0046	0.027	0.46513	D	0.043	0.49942	D	.	.	.	.	.	.	0.000001	0.62929	N	0.093378	0.99958	0.47691	D	.	.	.	2.93	0.09822	T	-2.49	0.54217	N	0.342	0.38335	-1.0839	0.06609	T	0.022	0.09513	T	10	0.010290474	0.00230	T	.	.	.	0.104	0.29647	.	.	0.0920862733494	0.08535	0.34173564279456925	0.34086	.	.	0.588570713997	0.51293	T	.	.	.	-0.425054	0.01589	T	-0.383208	0.35346	T	0.0901751338472701	0.11239	T	0.89861	0.64536	D	0.5295049	0.68802	0.63403386	0.78640	0.5295049	0.68803	0.63403386	0.78641	.	.	.	.	.	0.343	0.56138	A	.;.;.	.;.;.	3.836771	0.55490	23.6	0.98206162371127925	0.39167	0.96124	0.67642	D	AEFDBI	0.725255	0.67430	D	-0.142888475265299	0.35538	2.042532	-0.0226006809192264	0.38695	2.283541	0.999998742448566	0.74766	0.0	0.00013	3	0.514364	0.08380	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	5.14	3.16	0.35406	4.561000	0.60519	4.859000	0.45451	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8575:0.0:0.1425	11.774	0.51245	496	0.76301	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Matrin/U1-C-like, C2H2-type zinc finger;Zinc finger C2H2-type|Zinc finger C2H2-type|Matrin/U1-C-like, C2H2-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000519	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	649.43	38	chr17	42027715	.	C	T	649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.277;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.991;SOR=0.634	GT:AD:DP:GQ:PL	0/1:29,28:57:99:661,0,681	9	0	1	0
chr17	42121297	42121297	T	G	exonic	KAT2A	.	nonsynonymous SNV	KAT2A:NM_001376227:exon1:c.A8C:p.E3A,KAT2A:NM_021078:exon1:c.A8C:p.E3A	.	448	1068	3	3	0	9	0.0041958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0164156692786	0.0002	0.00159744	0	0	0	0	0	0	0	0	0.0011142	29	26028	rs374471583	0.0015	0.0014	0.0015	0.0016	0.0045	0.0015	0.0015	0.0040	0.0038	0.0004	0.0016	0.0001	0	0.0015	0.0015	0.0015	0.0013	0.0045	0.0014	0.0014	0.0015	0.0012	0.0046	0.0012	0.0011	0.0031	0.0026	0.0002	0	0.0020	0.0003	0	0.0008	0	0.0019	0.0033	0.0046	0.0	0.91255	D	0.296	0.20615	T	0.092	0.25296	B	0.099	0.30579	B	0.310131	0.14448	N	0.598796	0.897129	0.36084	D	0	0.06538	N	3.51	0.04959	T	-0.82	0.22508	N	0.313	0.35301	-1.0171	0.24657	T	0.018	0.07234	T	10	0.010338813	0.00230	T	0.016416	0.37668	T	0.075	0.21907	.	.	0.435371449458	0.43157	0.20599664928697853	0.20516	1.00142673807	0.74423	0.768750190735	0.77237	T	0.205754	0.56490	T	-0.453232	0.01081	T	-0.429671	0.29971	T	0.176087815687351	0.18985	T	0.772323	0.40326	T	0.13840745	0.32012	0.1484923	0.35100	0.13840745	0.32012	0.1484923	0.35099	-4.008	0.23923	T	.	.	0.064	0.01738	B	.	.	4.327760	0.66282	24.9	0.99014349262818402	0.50441	0.94867	0.62605	D	ALL	0.567286	0.57293	D	-0.0801240121782653	0.38265	2.238467	0.0762542482059105	0.43356	2.639158	1.0	0.98316	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.71	0.69187	0	.	.	4.51	4.51	0.54589	3.833000	0.55492	6.024000	0.52834	0.566000	0.28629	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	11.832	0.51574	319	0.87030	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001153	0.000000	0.000000	0.007463	0.000000	0.000000	0.003676	0.000000	0.05	134.43	28	chr17	42121297	.	T	G	134.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.16;DP=223;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.72;ReadPosRankSum=-1.791;SOR=0.943	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,5:20:99:0|1:42121297_T_G:146,0,477:42121297	9	0	1	0
chr17	42676460	42676460	-	CGTCCC	exonic	PLEKHH3	.	nonframeshift insertion	PLEKHH3:NM_024927:exon1:c.103_104insGGGACG:p.D34_E35insGD	.	414	1075	28	2	3	35	0.0146654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0059	0.00339457	0.0051	0.0011	0.0022	0	0.0030	0.0062	0.0090	0.0082	0.0024973	65	26028	rs575311542	0.0071	0.0071	0.0070	0.0071	0.0088	0.0069	0.0069	0.0083	0.0080	0.0014	0.0023	0.0048	0	0.0028	0.0087	0.0078	0.0073	0.0088	0.0047	0.0047	0.0051	0.0043	0.0083	0.0044	0.0043	0.0069	0.0067	0.0013	0.0186	0.0027	0.0063	0	0.0022	0	0.0075	0.0062	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1058.39	37	chr17	42676460	.	T	TCGTCCC	1058.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.118;DP=386;ExcessHet=0;FS=0.961;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=0.814;SOR=0.906	GT:AD:DP:GQ:PL	0/1:34,29:63:99:1070,0,1220	9	0	1	0
chr17	44398604	44398604	T	G	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.A3239C:p.N1080T,GPATCH8:NM_001304939:exon7:c.A3398C:p.N1133T,GPATCH8:NM_001304942:exon7:c.A3239C:p.N1080T,GPATCH8:NM_001002909:exon8:c.A3473C:p.N1158T,GPATCH8:NM_001304941:exon9:c.A3239C:p.N1080T,GPATCH8:NM_001304940:exon10:c.A3239C:p.N1080T	.	415	1105	2	0	0	2	0.000904159	.	.	.	2331834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00459363609935	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	9.06e-05	14	154602	rs140497485	8.226e-05	8.345e-05	8.189e-05	8.264e-05	0.0011	6.971e-05	6.484e-05	0.0005	0.0003	6.423e-05	0	0.0006	0	1.974e-05	0.0011	7.285e-05	0.0002	5.432e-05	8.544e-05	8.536e-05	0.0001	6.727e-05	0.0002	4.958e-05	3.964e-05	7.911e-05	5.996e-05	0	0	0	0.0003	0	0	0	0.0001	0.0005	0.0002	.	.	.	0.217	0.26145	T	0.1	0.25713	B	0.024	0.20255	B	0.002811	0.35900	N	0.266108	0.902306	0.27676	N	0.625	0.15840	N	2.75	0.11622	T	.	.	.	0.144	0.14480	-0.9580	0.39552	T	0.014	0.05608	T	10	0.010875344	0.00240	T	0.004594	0.11346	T	.	.	0.175	0.08135	0.043077524339	0.03247	0.04341589903936844	0.04286	0.143264612886	0.16165	0.376223146915	0.21721	T	0.023974	0.18205	T	-0.528606	0.00391	T	-0.748773	0.03534	T	0.0120021630221989	0.00189	T	0.473153	0.14076	T	0.032152113	0.03187	0.0422596	0.04993	0.032152113	0.03187	0.0422596	0.04993	-1.509	0.01783	T	.	.	0.064	0.01600	B	.	.	1.222093	0.16158	12.36	0.9836800896449911	0.40719	0.61437	0.31484	D	AEFBCI	0.268530	0.38500	N	-0.720801976129419	0.15438	0.7779972	-0.627021979716169	0.18799	1.005894	0.114723861173872	0.16739	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	1.5	0.22029	-0.325000	0.08019	-0.545000	0.08561	-0.109000	0.15193	0.229000	0.24633	0.000000	0.08366	0.886000	0.42526	0.0:0.2225:0.1433:0.6341	5.076	0.13968	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	0.002014	0.000000	0.001359	0.005848	0.050000	0.000000	0.000000	0.000000	0.05	1092.43	33	chr17	44398604	.	T	G	1092.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.57;DP=478;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=2.67;SOR=0.608	GT:AD:DP:GQ:PL	0/1:48,41:89:99:1104,0,1314	9	0	1	0
chr17	44904956	44904956	C	T	exonic	FAM187A	.	nonsynonymous SNV	FAM187A:NM_001258400:exon1:c.C1127T:p.S376L	.	425	1033	62	2	0	66	0.0309568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.00259585	0.0091	0.0011	0.0068	0	0	0.0013	0.0146	0.0181	0.0013713	212	154602	rs555402721	0.0023	0.0022	0.0017	0.0028	0.0176	0.0022	0.0022	0.0168	0.0165	0.0002	0.0009	0.0004	2.798e-05	0.0007	0.0114	0.0013	0.0028	0.0176	0.0016	0.0016	0.0014	0.0019	0.0172	0.0015	0.0014	0.0142	0.0131	0.0002	0	0.0023	0	0.0002	0.0004	0.0170	0.0016	0.0043	0.0172	0.465	0.08609	T	0.62	0.07444	T	0.103	0.25884	B	0.01	0.14941	B	0.369594	0.04354	N	1.395560	1	0.08975	N	1.7	0.43825	L	0.97	0.42502	T	-1.04	0.27259	N	0.175	0.18784	-1.0236	0.22541	T	0.051	0.21883	T	9	0.004670471	0.00098	T	.	.	.	0.069	0.20116	.	.	0.447609009685	0.44385	0.5473808828241131	0.54664	.	.	0.285807311535	0.08314	T	0.008464	0.07774	T	-0.616405	0.00116	T	-0.64392	0.09385	T	0.0016297578096169	0.00017	T	0.733627	0.34942	T	0.042301055	0.06391	0.033432566	0.02237	0.042301055	0.06391	0.033432566	0.02236	-2.481	0.05653	T	.	.	0.094	0.14523	B	.	.	1.401737	0.18160	13.58	0.63598281148254254	0.07266	0.13302	0.17779	N	AEFDGBHCI	.	.	.	-0.809649728053484	0.13063	0.6409545	-0.827799331297762	0.13823	0.7191289	0.999999166461778	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.54	2.32	0.27895	0.358000	0.19952	2.301000	0.32018	0.599000	0.40250	0.000000	0.06391	0.011000	0.20116	0.043000	0.14563	0.2172:0.4511:0.0:0.3317	4.057	0.09301	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1947.43	34	chr17	44904956	.	C	T	1947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.582;DP=517;ExcessHet=0;FS=1.96;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.612;SOR=0.523	GT:AD:DP:GQ:PL	0/1:83,79:162:99:1959,0,2178	9	0	1	0
chr17	44928506	44928506	C	T	exonic	KIF18B	.	nonsynonymous SNV	KIF18B:NM_001264573:exon13:c.G1832A:p.R611Q,KIF18B:NM_001265577:exon13:c.G1796A:p.R599Q	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0289116741516	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs199951508	9.761e-05	9.85e-05	0.0001	8.811e-05	0.0024	8.374e-05	7.878e-05	0.0014	0.0011	9.95e-05	0	0.0005	0.0001	3.026e-05	0.0024	7.364e-05	0.0003	5.583e-05	0.0001	0.0001	0.0002	9.405e-05	0.0002	8.167e-05	6.724e-05	0.0001	7.898e-05	4.816e-05	0	0	0.0006	0.0002	0	0	0.0002	0.0005	0.0002	.	.	.	0.885	0.03507	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	-0.76	0.73845	T	.	.	.	0.106	0.13198	-0.9215	0.45348	T	0.110	0.39747	T	9	0.015760124	0.00331	T	0.028912	0.51509	D	.	.	0.178	0.08503	0.281381271821	0.27740	0.10233159312443096	0.10163	0.254992952433	0.28080	0.19669085741	0.00367	T	0.002456	0.01964	T	-0.392814	0.02579	T	-0.542347	0.18067	T	0.042464941740036	0.04139	T	0.650635	0.26150	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.03231	B	.;.;.	.;.;.	-0.522220	0.01798	0.139	0.47454771626938702	0.03881	0.01351	0.04634	N	AEFDBCI	0.034148	0.04181	N	-1.69247472992781	0.00869	0.03759355	-1.67334032044824	0.01260	0.0567933	0.595013648115011	0.21678	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	-5.52	0.02358	-0.723000	0.05056	-0.857000	0.07156	-1.680000	0.00787	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.0:0.5906:0.0:0.4094	13.152	0.58912	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	0.003941	0.000000	0.004747	0.009202	0.050000	0.000000	0.000000	0.000000	0.05	1190.43	34	chr17	44928506	.	C	T	1190.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.316;DP=413;ExcessHet=0;FS=1.587;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.291;SOR=0.909	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1202,0,1286	9	0	1	0
chr17	48121356	48121356	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C637A:p.P213T,SNX11:NM_013323:exon7:c.C661A:p.P221T,SNX11:NM_152244:exon8:c.C661A:p.P221T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0159330116532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.72154	D	0.047	0.48855	D	0.0	0.02946	B	0.001	0.04355	B	0.519184	0.11761	N	0.791293	1	0.08975	N	0.83	0.20963	L	-0.12	0.64630	T	-2.48	0.54059	N	0.051	0.07535	-0.9422	0.42266	T	0.149	0.47646	T	10	0.05349794	0.05550	T	0.015933	0.36930	T	0.043	0.11576	0.245	0.17984	0.484037581386	0.48037	0.20804343813926002	0.20720	0.119574652239	0.13463	0.277193725109	0.07105	T	0.018771	0.15074	T	-0.154878	0.27551	T	-0.460248	0.26572	T	0.0746949621828903	0.09294	T	0.636336	0.25296	T	0.056769192	0.11213	0.04533935	0.06077	0.056769192	0.11213	0.04533935	0.06077	-4.775	0.34298	T	.	.	0.086	0.10449	B	.;.;.;.;.;.	.;.;.;.;.;.	1.571688	0.20120	14.60	0.88267484273534103	0.17844	0.12360	0.17221	N	AEFBCI	0.058696	0.11030	N	-0.874749041110592	0.11446	0.5523798	-0.865441052805161	0.12917	0.6672158	1.15678767451762E-4	0.05269	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	1.38	0.21262	0.184000	0.16748	-0.242000	0.10582	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.702000	0.34203	0.1396:0.5611:0.1359:0.1634	3.471	0.07134	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	139.14	34	chr17	48121356	.	C	A	139.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.563;DP=696;ExcessHet=0.2348;FS=63.638;InbreedingCoeff=-0.1112;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=-0.031;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,18:173:83:0|1:48121356_C_A:83,0,6384:48121356	8	0	2	0
chr17	48121357	48121357	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C638A:p.P213H,SNX11:NM_013323:exon7:c.C662A:p.P221H,SNX11:NM_152244:exon8:c.C662A:p.P221H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0380915237209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.006	0.70582	D	0.003	0.11197	B	0.006	0.12133	B	0.519184	0.11761	N	0.791293	1	0.08975	N	1.525	0.38595	L	-0.16	0.65378	T	-1.8	0.42384	N	0.072	0.07811	-0.8604	0.51234	T	0.190	0.54108	T	10	0.08495718	0.14292	T	0.038092	0.58018	D	0.103	0.29403	0.238	0.16912	0.628906646486	0.62587	0.19977760881024514	0.19894	0.348915321359	0.36754	0.285802483559	0.08314	T	0.020125	0.15899	T	-0.0926007	0.37648	T	-0.370791	0.36796	T	0.627367913722992	0.37509	D	0.654835	0.26791	T	0.122885406	0.28868	0.19311786	0.42863	0.122885406	0.28867	0.19311786	0.42862	-5.551	0.42342	T	.	.	0.126	0.26731	B	.;.;.;.;.;.	.;.;.;.;.;.	2.348791	0.30108	18.34	0.98115172472137657	0.38383	0.09630	0.15343	N	AEFBCI	0.042106	0.06491	N	-0.555678256585635	0.20306	1.069478	-0.525915723664836	0.21451	1.160465	0.00168031574263526	0.08770	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	4.07	0.46726	0.201000	0.17074	1.213000	0.24921	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.687000	0.33748	0.3268:0.6732:0.0:0.0	11.497	0.49664	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	139.14	34	chr17	48121357	.	C	A	139.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.435;DP=694;ExcessHet=0.2348;FS=63.638;InbreedingCoeff=-0.1112;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.045;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,18:173:83:0|1:48121356_C_A:83,0,6384:48121356	8	0	2	0
chr17	50482128	50482128	C	T	exonic	RSAD1	.	nonsynonymous SNV	RSAD1:NM_018346:exon4:c.C512T:p.T171M	.	435	1085	2	0	0	2	0.00092081	.	.	.	2385690	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.316	0.119770241664	7.7e-05	.	0.0001	0	0	0	0	0.0002	0.0012	9.297e-05	0.0001035	16	154602	rs201488851	0.0001	0.0001	0.0001	0.0001	0.0014	9.777e-05	9.247e-05	0.0007	0.0005	0	0	0	0	1.895e-05	0.0014	0.0001	0.0002	4.781e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.16e-05	6.718e-05	0.0001	0.0001	2.405e-05	0	0	0	0	0	0.0034	0.0002	0.0005	0	0.105	0.29823	T	0.109	0.37449	T	0.996	0.68779	D	0.867	0.61644	P	0.000264	0.46590	N	0.186648	0.982559	0.24954	N	1.295	0.32453	L	-1.35	0.80035	T	-0.59	0.17624	N	0.317	0.35727	-0.5238	0.67774	T	0.471	0.79668	T	10	0.5140582	0.62264	D	0.11977	0.80016	D	0.316	0.63799	.	.	0.695963169682	0.69334	0.5726103130781338	0.57189	0.766586742155	0.64541	0.478727638721	0.35881	T	0.17637	0.52630	T	-0.250187	0.14076	T	-0.317717	0.42824	T	0.142543411340752	0.16492	T	0.724428	0.33821	T	0.0306423	0.02764	0.05636043	0.10056	0.0306423	0.02763	0.05636043	0.10056	-7.42	0.57045	T	.	.	0.161	0.35643	B	.	.	3.681786	0.52413	23.2	0.85655620992598125	0.16029	0.94134	0.60215	D	AEFDBI	0.503880	0.53568	D	0.0948587413054502	0.46223	2.865999	0.0490180805206099	0.42025	2.53473	0.999973773259	0.50053	0.712529	0.81865	0	0.723109	0.82256	0	0.719019	0.79029	0	0.691587	0.68394	0	.	.	5.07	3.08	0.34576	4.241000	0.58503	1.818000	0.29017	-0.173000	0.11020	0.999000	0.42656	0.933000	0.28592	0.151000	0.20341	0.1774:0.6662:0.0:0.1564	6.646	0.22128	896	0.25515	Radical SAM|Radical SAM|Radical SAM|Elp3/MiaB/NifB	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	888.43	35	chr17	50482128	.	C	T	888.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.951;DP=376;ExcessHet=0;FS=2.124;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.557;SOR=0.428	GT:AD:DP:GQ:PL	0/1:31,32:63:99:900,0,769	9	0	1	0
chr17	50548440	50548440	A	G	exonic	SPATA20	.	nonsynonymous SNV	SPATA20:NM_001258372:exon2:c.A235G:p.N79D,SPATA20:NM_001258373:exon3:c.A103G:p.N35D,SPATA20:NM_022827:exon3:c.A283G:p.N95D	.	414	1083	25	0	0	25	0.0114103	.	.	.	2811471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.470	0.0361846041077	0.0039	0.00359425	0.0042	0.0007	0.0029	0	0.0008	0.0059	0.0056	0.0040	0.0042432	656	154602	rs145670888	0.0049	0.0049	0.0049	0.0049	0.0184	0.0048	0.0047	0.0155	0.0145	0.0011	0.0033	0.0133	7.557e-05	0.0009	0.0184	0.0051	0.0057	0.0043	0.0040	0.0040	0.0043	0.0037	0.0052	0.0037	0.0036	0.0048	0.0046	0.0010	0.0504	0.0043	0.0161	0	0.0005	0.0272	0.0052	0.0057	0.0039	0.0	0.91255	D	0.0	0.92824	D	0.998	0.77913	D	0.988	0.78936	D	0.000000	0.84330	D	0.000000	0.999889	0.50402	D	3.015	0.86134	M	0.83	0.47815	T	-4.6	0.78976	D	0.709	0.71676	-0.3887	0.72383	T	0.253	0.62337	T	10	0.017895311	0.00385	T	0.036185	0.56830	D	0.470	0.76421	.	.	0.690399711728	0.68774	0.6965168757279541	0.69592	0.839685681929	0.67980	0.645402669907	0.59331	T	0.312235	0.68407	T	-0.303972	0.08289	T	-0.207077	0.53973	T	0.0526040994866846	0.05951	T	0.988539	0.96067	D	0.8381297	0.86475	0.7514801	0.85310	0.8381297	0.86477	0.7514801	0.85311	-12.059	0.86042	D	.	.	0.740	0.75209	P	.;.;.;.	.;.;.;.	4.294546	0.65523	24.8	0.99748116948115517	0.84002	0.93535	0.58482	D	AEFDBI	0.598197	0.59169	D	0.70968945048669	0.80268	7.256726	0.626845165808188	0.76896	6.576254	0.999999816269473	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.59	4.59	0.56297	5.788000	0.68670	8.006000	0.76170	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.9195:0.0:0.0805:0.0	10.322	0.42957	944	0.12746	.;.;Domain of unknown function DUF255;Domain of unknown function DUF255	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.010101	0.023098	0.014620	0.000000	0.034483	0.003049	0.011364	0.05	2290.43	37	chr17	50548440	.	A	G	2290.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.229;DP=652;ExcessHet=0;FS=5.961;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-0.041;SOR=0.975	GT:AD:DP:GQ:PL	0/1:150,104:254:99:2302,0,3760	9	0	1	0
chr17	58756283	58756285	GAG	-	exonic	PPM1E	.	nonframeshift deletion	PPM1E:NM_014906:exon1:c.286_288del:p.E100del	.	247	1258	17	0	0	17	0.00671141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0577	.	0.0331	0.0130	0.0424	0.0312	0	0.0246	0.03	0.0411	0.0012679	33	26028	rs544816257	0.0010	0.0080	0.0009	0.0012	0.0035	0.0010	0.0009	0.0030	0.0028	0.0015	0.0035	0.0019	0.0027	0.0010	0.0020	0.0007	0.0012	0.0032	3.333e-05	0.0003	3.905e-05	2.732e-05	2.445e-05	1.275e-05	8.08e-06	.	.	2.445e-05	0	0	0	0	0.0003	0	1.486e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081796	0.098765	0.086572	0.043919	0.250000	0.106383	0.100746	0.068182	0.05	41.39	37	chr17	58756282	.	TGAG	T	41.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.599;DP=261;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=-0.856;SOR=0.61	GT:AD:DP:GQ:PL	0/1:33,4:37:53:53,0,1373	9	0	1	0
chr17	67109406	67109406	T	C	exonic	HELZ	.	nonsynonymous SNV	HELZ:NM_001330447:exon29:c.A4202G:p.Q1401R,HELZ:NM_014877:exon29:c.A4199G:p.Q1400R	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.0235666447607	7.9e-05	.	4.14e-05	0	0	0	0	5.993e-05	0	6.056e-05	3.23e-05	5	154602	rs374438335	3.147e-05	3.147e-05	3.675e-05	2.613e-05	0.0002	2.412e-05	2.157e-05	2.54e-05	2.224e-05	0	4.472e-05	0	0	0	0.0002	3.417e-05	6.623e-05	1.159e-05	2.626e-05	2.625e-05	3.854e-05	1.343e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0.0005	0	0.162	0.23541	T	0.777	0.04372	T	0.281	0.32101	B	0.06	0.26717	B	0.000000	0.84330	D	0.000000	0.99923	0.46406	D	1.65	0.42232	L	-1.75	0.83495	D	-0.6	0.17834	N	0.362	0.42443	-0.4222	0.71319	T	0.386	0.74121	T	10	0.13737032	0.26131	T	0.023567	0.46536	T	0.356	0.67691	.	.	0.418638904736	0.41481	0.5081724066312158	0.50739	0.175126151092	0.19720	0.36485004425	0.20089	T	0.090076	0.38509	T	-0.0514423	0.44228	T	-0.125766	0.61326	T	0.0502128453772337	0.05538	T	0.761124	0.38584	T	0.22795604	0.45506	0.16237104	0.37720	0.22795604	0.45506	0.16237104	0.37719	-7.11	0.54832	T	.	.	0.114	0.28348	B	.;.	.;.	2.246091	0.28689	17.88	0.95780011122263609	0.27802	0.93035	0.57162	D	AEFGBI	0.343513	0.43930	N	-0.00615416198436297	0.41577	2.489312	0.170950299768431	0.48262	3.044582	0.999999999773283	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	2.855000	0.48032	3.357000	0.37830	0.568000	0.28809	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	16.330	0.82837	550	0.72197	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	905.43	43	chr17	67109406	.	T	C	905.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.328;DP=437;ExcessHet=0;FS=0.715;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=-0.392;SOR=0.78	GT:AD:DP:GQ:PL	0/1:80,41:121:99:917,0,2285	9	0	1	0
chr17	68903472	68903472	G	A	exonic	ABCA8	.	nonsynonymous SNV	ABCA8:NM_001375771:exon18:c.C2243T:p.A748V,ABCA8:NM_001375772:exon18:c.C1004T:p.A335V,ABCA8:NM_007168:exon18:c.C2306T:p.A769V,ABCA8:NM_001288986:exon19:c.C2426T:p.A809V,ABCA8:NM_001288985:exon20:c.C2426T:p.A809V	.	437	1049	35	1	0	37	0.0173302	.	.	.	3886771	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.052	.	0.0003	0.00199681	0.0017	0	0	0	0	0.0004	0.0044	0.0107	0.0014683	227	154602	rs184161214	0.0010	0.0010	0.0007	0.0014	0.0115	0.0010	0.0010	0.0109	0.0107	2.987e-05	0.0005	0.0002	0	0	0.0066	0.0003	0.0016	0.0115	0.0008	0.0008	0.0006	0.0010	0.0148	0.0007	0.0006	0.0120	0.0110	4.822e-05	0	0.0003	0.0003	0.0002	0	0	0.0005	0.0014	0.0148	0.568	0.06381	T	0.491	0.14412	T	0.002	0.09854	B	0.002	0.06944	B	0.440630	0.04758	N	1.409270	1	0.08975	N	0.695	0.17993	N	-0.97	0.75670	T	0.58	0.03041	N	0.069	0.04188	-1.0025	0.29197	T	0.193	0.54667	T	10	0.0037364364	0.00069	T	.	.	.	0.052	0.14661	.	.	0.469578130381	0.46583	0.14823423802511468	0.14745	0.0573251470501	0.06345	0.262227773666	0.05158	T	0.037209	0.37060	T	-0.61317	0.00121	T	-0.644158	0.09368	T	0.00532305861954774	0.00058	T	0.275172	0.06971	T	0.019498836	0.00482	0.031217244	0.01680	0.019498836	0.00482	0.031217244	0.01680	.	.	.	.	.	0.067	0.03266	B	.;.;.	.;.;.	-0.368211	0.02333	0.251	0.70904960446772303	0.09450	0.05502	0.11389	N	AEFBHCI	0.136810	0.25760	N	-1.48736639363359	0.01938	0.08510498	-1.53869890657539	0.02055	0.09393695	9.66251316486085E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.43	-4.32	0.03433	-0.756000	0.04882	-6.269000	0.01447	-0.546000	0.04920	0.000000	0.06391	0.000000	0.08366	0.103000	0.18424	0.1687:0.2995:0.4231:0.1087	3.460	0.07097	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	0.006042	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.026515	0.1	2308.14	37	chr17	68903472	.	G	A	2308.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.206;DP=474;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.072;SOR=0.689	GT:AD:DP:GQ:PL	0/1:35,58:93:99:1489,0,843	8	0	2	0
chr17	69201536	69201536	G	A	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon10:c.C1139T:p.P380L,ABCA10:NM_080282:exon11:c.C1139T:p.P380L	.	.	.	.	.	.	.	.	.	.	.	3654616	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.296	0.0488937626971	.	.	2.513e-05	0	0	0.0001	0	3.018e-05	0	0	2.59e-05	4	154602	rs754390363	1.515e-05	1.779e-05	8.221e-06	2.216e-05	0.0001	9.92e-06	8.47e-06	3.474e-05	1.999e-05	3.033e-05	0	0	0.0001	0	0	1.263e-05	1.669e-05	2.386e-05	6.578e-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	0.056	0.38185	T	0.004	0.74150	D	0.416	0.35222	B	0.059	0.26602	B	0.004631	0.33547	U	0.000000	0.978462	0.39464	D	2.405	0.69568	M	-2.42	0.88611	D	-8.76	0.97728	D	0.313	0.35301	0.258	0.86883	D	0.634	0.87195	D	10	0.21374503	0.37876	T	0.048894	0.63575	D	0.296	0.61616	0.297	0.26202	0.760363118371	0.75817	0.2896127180240505	0.28874	0.044890219653	0.04851	0.459521412849	0.33245	T	0.057139	0.30484	T	-0.123666	0.32526	T	-0.189712	0.55616	T	0.766408383846283	0.44225	D	0.884611	0.60805	D	0.20670599	0.42853	0.28325626	0.54317	0.20670599	0.42853	0.28325626	0.54316	-6.806	0.52603	T	.	.	0.088	0.11510	B	.	.	3.071715	0.41293	21.3	0.99189506371971659	0.54935	0.95188	0.63763	D	AEFI	0.394292	0.47160	N	-0.0237721558886285	0.40781	2.427737	-0.00611033897366024	0.39437	2.338393	1.73813684249877E-4	0.05786	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	2.78	2.78	0.31702	4.342000	0.59122	7.384000	0.58471	0.527000	0.24520	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	0.0:0.208:0.792:0.0	9.966	0.40894	916	0.20744	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	489.43	36	chr17	69201536	.	G	A	489.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.481;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-0.216;SOR=0.628	GT:AD:DP:GQ:PL	0/1:29,21:50:99:501,0,701	9	0	1	0
chr17	73196607	73196607	A	G	exonic	COG1	.	nonsynonymous SNV	COG1:NM_018714:exon2:c.A416G:p.Q139R	Congenital disorder of glycosylation, type IIg	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00375586574043	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs751246825	3.42e-06	3.42e-06	1.361e-06	5.5e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.15823	T	0.826	0.04636	T	0.002	0.09854	B	0.004	0.10090	B	0.000323	0.45700	N	0.192145	0.995773	0.42850	D	1.69	0.43327	L	1.93	0.22881	T	-1.67	0.39887	N	0.078	0.05287	-1.0488	0.14733	T	0.038	0.16246	T	10	0.069664806	0.10027	T	0.003756	0.08713	T	0.066	0.19193	0.409	0.44395	0.18995819373	0.18626	.	.	0.11206063664	0.12641	0.32307934761	0.13887	T	0.023954	0.22746	T	-0.307302	0.07988	T	-0.58234	0.14336	T	0.158192068338394	0.17737	T	0.729327	0.34443	T	0.068919614	0.15055	0.08269268	0.18892	0.068919614	0.15055	0.08269268	0.18892	-3.902	0.22333	T	0.17596894045100178	0.22429	0.063	0.01387	B	.;.	.;.	1.750119	0.22263	15.55	0.80178556987178384	0.13081	0.87059	0.46487	D	AEFDBHCI	0.179040	0.30632	N	-0.59113664408779	0.19212	1.00376	-0.500853710675711	0.22130	1.200523	0.999843352585562	0.43971	0.712529	0.81865	0	0.702456	0.74545	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	4.9	1.42	0.21524	3.739000	0.54795	1.321000	0.25603	0.756000	0.94297	1.000000	0.71638	0.585000	0.25641	0.931000	0.46843	0.6809:0.0:0.3191:0.0	9.075	0.35676	476	0.77720	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	804.43	35	chr17	73196607	.	A	G	804.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.374;DP=661;ExcessHet=0;FS=0.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=0.576;SOR=0.783	GT:AD:DP:GQ:PL	0/1:72,41:113:99:816,0,1874	9	0	1	0
chr17	74931085	74931085	C	T	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon6:c.C1450T:p.P484S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00751464351678	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210880166	2.052e-06	2.052e-06	0	4.126e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	1.872e-05	0	0	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.425	0.13912	T	0.57	0.38545	P	0.133	0.33073	B	0.495406	0.12010	N	0.765925	0.620569	0.32701	D	1.12	0.28775	L	3.01	0.09075	T	0.15	0.05310	N	0.089	0.07262	-1.0394	0.17495	T	0.014	0.05417	T	10	0.084610164	0.14200	T	0.007515	0.19926	T	0.082	0.23913	0.382	0.39970	0.0611884634855	0.05136	0.3528539628892104	0.35199	0.188836824056	0.21202	0.382409214973	0.22598	T	0.005991	0.05431	T	-0.388954	0.02732	T	-0.695852	0.06055	T	0.0713237078918236	0.08835	T	0.423358	0.11306	T	0.02680129	0.01785	0.05504888	0.09583	0.02680129	0.01784	0.05504888	0.09582	-3.188	0.12334	T	.	.	0.081	0.08272	B	.;.	.;.	1.268098	0.16667	12.69	0.48984956677338404	0.04133	0.79884	0.39675	D	AEFBI	0.234497	0.35725	N	-0.822414885101916	0.12739	0.6228641	-0.778821866394629	0.15014	0.7875259	0.999288450485403	0.39007	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.96	2.98	0.33575	1.647000	0.36876	2.622000	0.33640	-0.175000	0.10903	0.648000	0.28154	0.288000	0.24148	0.005000	0.06747	0.0:0.8526:0.0:0.1474	11.429	0.49275	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	.	.	.	.	.	.	.	.	0.05	1170.43	38	chr17	74931085	.	C	T	1170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.853;DP=443;ExcessHet=0;FS=2.019;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.961;SOR=0.453	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1182,0,1337	9	0	1	0
chr17	75613752	75613752	C	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon28:c.C5080A:p.L1694M	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0169728	0.0134	0.0217	0	0.0051	0	0	0	0.0199	0.0017723	274	154602	rs139523993	0.0031	0.0028	0.0023	0.0037	0.0201	0.0030	0.0029	0.0183	0.0176	0.0201	0.0015	0	0.0009	0	0.0015	0.0004	0.0032	0.0170	0.0064	0.0064	0.0063	0.0065	0.0197	0.0061	0.0059	0.0180	0.0176	0.0191	0	0.0028	0	0.0033	0	0	0.0003	0.0033	0.0197	.	.	.	0.066	0.54541	T	0.93	0.51791	P	0.365	0.43339	B	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.309	0.34874	.	.	.	.	.	.	.	0.0048088133	0.00102	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02609	0.19376	T	.	.	.	.	.	.	.	.	.	0.735926	0.36642	T	0.07234507	0.16086	0.16689095	0.38532	0.07234507	0.16085	0.16689095	0.38531	-8.746	0.66047	D	.	.	0.189	0.40666	B	.;.;.	.;.;.	0.612993	0.09813	6.579	0.87455459359359344	0.17240	0.18351	0.20225	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999528953865247	0.40175	0.262962	0.04601	0	0.304816	0.05638	0	0.117705	0.03188	2	0.24566	0.04862	0	0.206682	0.30772	5.42	-6.25	0.01863	-0.483000	0.06616	-2.720000	0.03431	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.831000	0.39176	0.092:0.1001:0.0:0.8079	12.267	0.54000	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	.	.	.	.	.	.	.	.	0.05	986.43	36	chr17	75613752	.	C	A	986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.099;DP=434;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.904;SOR=0.848	GT:AD:DP:GQ:PL	0/1:51,42:93:99:998,0,1258	9	0	1	0
chr17	75925371	75925371	C	T	exonic	FBF1	.	nonsynonymous SNV	FBF1:NM_001319193:exon12:c.G944A:p.R315Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0244943281272	.	.	8.57e-06	0	0	0	0	0	0	6.171e-05	1.29e-05	2	154602	rs768348404	6.161e-06	6.84e-06	6.811e-06	5.504e-06	2.239e-05	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	2.239e-05	0	0	0	0	6.297e-06	0	1.16e-05	6.569e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.092	0.39954	T	0.605	0.66517	P	0.072	0.52604	B	.	.	.	.	0.819881	0.34760	D	2.325	0.66631	M	1.44	0.32722	T	.	.	.	0.17	0.18103	-0.5265	0.67673	T	0.180	0.52644	T	9	0.19739434	0.35668	T	0.024494	0.47488	T	.	.	0.451	0.51285	0.258779203287	0.25495	0.12326812372106681	0.12252	.	.	0.282617986202	0.07860	T	0.102051	0.40940	T	-0.245941	0.14600	T	-0.490424	0.23347	T	0.783793091773987	0.45289	D	0.80082	0.44919	T	0.064274356	0.13619	0.11520228	0.27809	0.064274356	0.13618	0.11520228	0.27808	-6.491	0.50217	T	.	.	0.081	0.10014	B	.;.;.	.;.;.	2.375054	0.30480	18.45	0.99871595868142371	0.94902	0.85886	0.45072	D	AEFBI	0.279311	0.39338	N	0.182800740424742	0.50375	3.227974	0.183128379493449	0.48923	3.101882	0.00439047250466468	0.10527	0.638212	0.43195	0	0.670034	0.63936	0	0.616094	0.41390	0	0.655142	0.61905	0	.	.	5.33	4.35	0.51454	1.719000	0.37633	1.630000	0.27734	-0.171000	0.11205	0.853000	0.30494	0.897000	0.27914	0.673000	0.33338	0.0:0.8614:0.1386:0.0	15.576	0.76122	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	915.43	34	chr17	75925371	.	C	T	915.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.427;DP=361;ExcessHet=0;FS=8.267;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.6;ReadPosRankSum=0.494;SOR=0.165	GT:AD:DP:GQ:PL	0/1:19,33:52:99:927,0,454	9	0	1	0
chr17	76007755	76007755	G	C	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.C5516G:p.S1839C,EVPL:NM_001988:exon22:c.C5450G:p.S1817C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0629709911113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.077	0.45110	T	0.993	0.65571	D	0.72	0.54860	P	0.046725	0.23411	N	0.472008	1	0.08975	N	1.645	0.42016	L	-0.43	0.69657	T	-1.9	0.44284	N	0.228	0.26717	-0.6923	0.60801	T	0.298	0.66942	T	10	0.22776076	0.39664	T	0.062971	0.68822	D	0.108	0.30607	0.375	0.38830	0.709025157765	0.70648	0.3181217063644736	0.31725	0.21898844824	0.24440	0.352479279041	0.18286	T	0.193369	0.54882	T	-0.070111	0.41310	T	-0.338486	0.40516	T	0.424216330051422	0.29846	T	0.673733	0.28234	T	0.14577644	0.33402	0.15694636	0.36721	0.14577644	0.33401	0.15694636	0.36720	-7.225	0.55660	T	.	.	0.073	0.04764	B	.;.	.;.	2.745551	0.35970	20.1	0.90825066418719336	0.20074	0.39012	0.26117	N	AEFGBHCI	0.365960	0.45395	N	-0.182434568784347	0.33867	1.926306	-0.243046490386023	0.30011	1.686156	0.998800898080147	0.37711	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.25	5.25	0.73169	2.364000	0.43840	3.887000	0.40272	0.665000	0.62972	0.487000	0.26855	1.000000	0.68203	0.183000	0.21389	0.0:0.0:0.807:0.193	13.71	0.62143	706	0.57215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1901.43	169	chr17	76007755	.	G	C	1901.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.064;DP=614;ExcessHet=0;FS=1.358;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-1.959;SOR=0.871	GT:AD:DP:GQ:PL	0/1:68,70:138:99:1913,0,1868	9	0	1	0
chr17	78131664	78131664	A	T	exonic	TMC8	.	nonsynonymous SNV	TMC8:NM_152468:exon2:c.A76T:p.M26L	Epidermodysplasia verruciformis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3620251	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0436377313524	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224236608	2.825e-06	2.736e-06	1.397e-06	4.284e-06	3.67e-06	6.6e-07	4.5e-07	8.6e-07	5.8e-07	0	0	0	0	0	0	3.67e-06	0	0	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.654	0.04786	T	0.145	0.36901	T	0.0	0.02946	B	0.0	0.01387	B	0.975995	0.07810	N	1.015750	1	0.81001	D	1.68	0.43186	L	-0.75	0.73311	T	-1.04	0.27259	N	0.238	0.26837	-0.8668	0.50768	T	0.137	0.45260	T	10	0.066233516	0.09054	T	0.043638	0.61084	D	0.074	0.21613	0.368	0.37687	0.311079019809	0.30711	0.5793361551651859	0.57862	1.12626040767	0.78466	0.67870080471	0.64083	T	0.008449	0.07757	T	-0.164481	0.26074	T	-0.474042	0.25082	T	0.0419952609311506	0.04054	T	0.671133	0.28021	T	0.069977865	0.15376	0.057595946	0.10497	0.069977865	0.15376	0.057595946	0.10497	-1.507	0.01778	T	0.09813306485725724	0.06981	0.581	0.68102	P	.;.	.;.	1.456606	0.18786	13.92	0.86652507681483981	0.16681	0.53722	0.29441	D	AEFDBHCI	0.237686	0.35993	N	-0.918827945622379	0.10402	0.4969062	-0.806547885474798	0.14337	0.7486091	0.999998815022834	0.74766	0.525926	0.21836	0	0.52208	0.09955	0	0.503968	0.08637	0	0.584449	0.35598	0	.	.	3.13	-0.645	0.10899	1.213000	0.32011	-0.799000	0.07382	0.658000	0.54486	0.992000	0.37556	0.000000	0.08366	0.859000	0.40722	0.4873:0.2361:0.2766:0.0	2.974	0.05571	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	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1050.43	39	chr17	78131664	.	A	T	1050.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.249;DP=405;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=0.011;SOR=0.738	GT:AD:DP:GQ:PL	0/1:33,42:75:99:1062,0,784	9	0	1	0
chr17	78202555	78202555	G	A	exonic	AFMID	.	nonsynonymous SNV	AFMID:NM_001010982:exon3:c.G211A:p.G71S,AFMID:NM_001145526:exon3:c.G211A:p.G71S	.	440	1078	3	1	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0116076046691	0.0002	.	0.0004	0	0.0002	0	0.0002	0.0004	0.0011	0.0010	0.0003881	60	154602	rs144866146	0.0004	0.0004	0.0004	0.0005	0.0026	0.0004	0.0004	0.0016	0.0013	2.987e-05	0.0002	0.0008	0	0.0003	0.0026	0.0004	0.0005	0.0012	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.813e-05	0	0.0003	0.0014	0	0	0	0.0004	0	0.0010	0.275	0.15770	T	0.398	0.50514	T	0.899	0.52645	P	0.14	0.39956	B	0.005604	0.32654	N	0.326436	1	0.21260	N	2.24	0.63355	M	.	.	.	-1.47	0.35991	N	0.185	0.21319	-1.0531	0.13547	T	0.063	0.26279	T	9	0.035892487	0.01860	T	0.011608	0.29407	T	0.096	0.27654	.	.	0.285316908763	0.28143	0.5640927354680952	0.56336	0.586344282559	0.54236	0.283833146095	0.08032	T	0.080117	0.36288	T	-0.454157	0.01067	T	-0.485739	0.23840	T	0.0663336908877156	0.08126	T	0.761924	0.43550	T	0.049111012	0.08670	0.04001659	0.04230	0.049111012	0.08669	0.04001659	0.04229	-5.428	0.42176	T	.	.	0.093	0.47228	B	.;.;.;.	.;.;.;.	1.988751	0.25265	16.70	0.99137035648845961	0.53437	0.60296	0.31155	D	AEFBI	0.380182	0.46292	N	-0.556372519874784	0.20284	1.068194	-0.640015214047353	0.18470	0.9867571	0.015122759323441	0.12677	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.69	1.47	0.21832	2.040000	0.40824	0.750000	0.21229	-0.301000	0.06190	0.958000	0.33488	0.149000	0.23162	0.001000	0.02609	0.0828:0.1496:0.6125:0.155	4.745	0.12406	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1730.43	34	chr17	78202555	.	G	A	1730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.17;DP=670;ExcessHet=0;FS=1.885;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-1.515;SOR=0.537	GT:AD:DP:GQ:PL	0/1:103,75:178:99:1742,0,2492	9	0	1	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	39343.9	103	chr17	80090216	.	G	*	39343.9	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.578;DP=2135;ExcessHet=5.3821;FS=0.551;InbreedingCoeff=-0.3919;MLEAC=1;MLEAF=0.056;MQ=56.06;MQRankSum=-7.071;QD=20.96;ReadPosRankSum=-0.796;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,122:167:99:0|1:80090197_ACGCAGGCACGTGCACGAAGAACACGGGACGCG_A:2530,0,1370:80090197	8	0	1	1
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	24759.5	99	chr17	80090265	.	G	*	24759.5	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2.12;DP=1591;ExcessHet=3.8694;FS=4.222;InbreedingCoeff=-0.2454;MLEAC=1;MLEAF=0.063;MQ=54.37;MQRankSum=-8.045;QD=20;ReadPosRankSum=0.184;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,86:134:99:0|1:80090197_ACGCAGGCACGTGCACGAAGAACACGGGACGCG_A:2502,0,1536:80090197	7	0	1	2
chr17	81447639	81447639	C	T	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon11:c.C3767T:p.A1256V,BAHCC1:NM_001291324:exon12:c.C3860T:p.A1287V	.	390	1130	1	1	0	3	0.00132567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00939808467228	0.0026	0.00239617	0.0051	0.0015	0.0071	0	0	0.0085	0.004	0.0008	0.0026196	405	154602	rs142418298	0.0033	0.0033	0.0033	0.0033	0.0048	0.0032	0.0031	0.0046	0.0045	0.0013	0.0026	0.0037	2.964e-05	0.0004	0.0007	0.0048	0.0038	0.0005	0.0035	0.0035	0.0036	0.0033	0.0055	0.0032	0.0031	0.0051	0.0049	0.0011	0	0.0047	0.0040	0	0.0005	0.0034	0.0055	0.0057	0.0004	0.27	0.16038	T	0.205	0.27414	T	0.005	0.12996	B	0.005	0.11217	B	0.996062	0.07997	N	0.997282	1	0.08975	N	.	.	.	1.81	0.25182	T	-1.08	0.28084	N	0.014	0.00160	-0.9790	0.35231	T	0.022	0.09193	T	10	0.0049081445	0.00105	T	0.009398	0.24646	T	0.005	0.00259	.	.	0.0138822411134	0.00435	0.17422729968219483	0.17341	0.0837104849126	0.09440	0.3782081604	0.22001	T	0.012878	0.11238	T	-0.593334	0.00160	T	-0.623969	0.10876	T	0.00221729881763438	0.00023	T	0.649135	0.26722	T	0.014207058	0.00084	0.031005628	0.01631	0.014207058	0.00084	0.031005628	0.01631	-5.128	0.38201	T	.	.	0.079	0.12465	B	.;.	.;.	0.124521	0.05214	1.723	0.85662281518378458	0.16033	0.13069	0.17645	N	AEFBHCI	0.061524	0.11769	N	-1.22940982936709	0.04578	0.206923	-1.27530979844889	0.04766	0.225622	0.00436527991188606	0.10516	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.07	-1.83	0.07410	-1.140000	0.03321	-2.669000	0.03486	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1419:0.5308:0.0:0.3272	4.966	0.13438	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003543	0.005155	0.006831	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	845.43	38	chr17	81447639	.	C	T	845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.21;DP=507;ExcessHet=0;FS=6.933;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.407;SOR=1.418	GT:AD:DP:GQ:PL	0/1:64,34:98:99:857,0,1536	9	0	1	0
chr17	81902747	81902747	G	C	exonic	NPB	.	stoploss	NPB:NM_148896:exon2:c.G377C:p.X126S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	1.827e-05	0	0	0	0	3.354e-05	0	0	1.29e-05	2	154602	rs376467227	3.716e-05	3.694e-05	4.107e-05	3.32e-05	0.0003	2.911e-05	2.607e-05	6.123e-05	2.962e-05	0	0	3.856e-05	0	0	0.0003	4.326e-05	4.991e-05	0	3.285e-05	3.283e-05	1.285e-05	5.379e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	N	.	.	.	.	.	.	.	.	.	0.133	0.13198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.271604	0.11579	T	-0.545051	0.17804	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.379649	0.17910	13.44	0.82676046289539962	0.14316	0.88962	0.49151	D	AEFDBHCI	.	.	.	0.609770981423588	0.73793	6.024354	0.313754009456253	0.56347	3.797943	0.999999999740359	0.74766	0.184171	0.03992	0	0.221468	0.04790	0	0.132232	0.03703	1	0.082385	0.02281	0	0.669507	0.42170	3.61	3.61	0.40494	1.630000	0.36693	3.481000	0.38649	0.656000	0.54149	1.000000	0.71638	0.999000	0.35428	0.045000	0.14751	0.1008:0.0:0.8992:0.0	9.331	0.37185	.	.	.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	.	.	.	.	.	.	.	.	0.05	1078.43	33	chr17	81902747	.	G	C	1078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=389;ExcessHet=0;FS=3.054;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=1.08;SOR=1.077	GT:AD:DP:GQ:PL	0/1:34,44:78:99:1090,0,715	9	0	1	0
chr17	82080730	82080730	C	T	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon39:c.G6788A:p.R2263Q	.	.	.	.	.	.	.	.	.	.	.	572429	not_specified|Epileptic_encephalopathy	MedGen:CN169374|Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.0140364135198	0.0002	.	7.181e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs377735574	5.312e-05	5.541e-05	6.031e-05	4.583e-05	6.14e-05	4.313e-05	3.986e-05	4.919e-05	4.502e-05	2.996e-05	2.348e-05	3.87e-05	2.548e-05	0	0	6.14e-05	5.005e-05	2.376e-05	7.889e-05	7.881e-05	5.14e-05	0.0001	0.0001	4.499e-05	3.514e-05	5.843e-05	4.24e-05	7.243e-05	0	6.545e-05	0	0	0	0	0.0001	0	0	0.082	0.33254	T	0.122	0.35710	T	0.27	0.31762	B	0.029	0.21540	B	0.051212	0.23002	N	0.412013	0.984209	0.24820	N	1.275	0.32135	L	1.73	0.26445	T	-0.86	0.23372	N	0.201	0.22228	-1.0572	0.12465	T	0.030	0.12717	T	10	0.12364861	0.23476	T	0.014036	0.33885	T	0.032	0.07718	.	.	0.313793572803	0.30980	0.2850345100746547	0.28416	.	.	0.295706242323	0.09763	T	0.262409	0.63398	T	-0.357633	0.04266	T	-0.55452	0.16894	T	0.0975277184799988	0.12083	T	0.89621	0.63821	D	0.1377711	0.31888	0.10189956	0.24406	0.1377711	0.31888	0.10189956	0.24406	-4.743	0.33920	T	.	.	0.076	0.05935	B	.;.	.;.	2.661588	0.34679	19.69	0.98842124901420891	0.47135	0.80792	0.40340	D	AEFBCI	0.148037	0.27183	N	-0.818435208494087	0.12839	0.6284859	-0.782693345345308	0.14919	0.7820732	0.133995310268271	0.17146	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.47	-0.911	0.09973	0.669000	0.24823	0.165000	0.15451	-0.242000	0.07441	1.000000	0.71638	0.986000	0.30841	0.667000	0.33166	0.0:0.4968:0.0:0.5032	10.441	0.43652	.	.	Thioesterase;Thioesterase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000509	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1415.43	40	chr17	82080730	.	C	T	1415.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.443;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.161;SOR=0.737	GT:AD:DP:GQ:PL	0/1:70,59:129:99:1427,0,1668	9	0	1	0
chr18	2937817	2937817	G	A	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon7:c.C1043T:p.P348L,LPIN2:NM_001375809:exon7:c.C1043T:p.P348L,LPIN2:NM_014646:exon7:c.C1043T:p.P348L	Majeed syndrome	0	1501	21	0	0	21	0.00694674	.	.	YES	34370	not_provided|Autoinflammatory_syndrome|Majeed_syndrome	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.471	0.0472440006302	0.0005	0.00119808	0.0015	9.61e-05	0.0005	0	0.0002	0.0013	0.0055	0.0050	0.0013713	212	154602	rs34676691	0.0010	0.0010	0.0008	0.0012	0.0071	0.0010	0.0010	0.0054	0.0048	8.961e-05	0.0006	0.0008	2.519e-05	5.616e-05	0.0071	0.0008	0.0010	0.0047	0.0007	0.0007	0.0008	0.0007	0.0039	0.0006	0.0006	0.0026	0.0021	0.0001	0	0.0005	0.0003	0	0	0.0102	0.0011	0.0024	0.0039	0.041	0.41915	D	0.191	0.28391	T	0.0	0.02946	B	0.001	0.04355	B	0.018035	0.27579	N	0.468640	1	0.08975	N	1.155	0.29575	L	-1.37	0.80214	T	-2.84	0.59873	D	0.163	0.17140	-0.7457	0.58159	T	0.341	0.70705	T	10	0.004683107	0.00098	T	0.047244	0.62833	D	0.471	0.76487	.	.	0.85556397381	0.85417	0.17955191147053634	0.17874	0.241005714091	0.26633	0.281983017921	0.07770	T	0.110259	0.42481	T	-0.201526	0.20586	T	-0.0619887	0.66193	T	0.0102228690827515	0.00139	T	0.730127	0.34567	T	0.05918796	0.11998	0.071224615	0.15228	0.056861125	0.11242	0.0612654	0.11800	-3.842	0.21433	T	0.103693821679052	0.08027	0.065	0.02012	B	.	.	2.156294	0.27469	17.47	0.69125950093582156	0.08873	0.66719	0.33176	D	AEFBI	0.079139	0.15979	N	-0.473775513693229	0.22942	1.228571	-0.419826692497712	0.24416	1.336864	0.997207291581435	0.35373	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.74	2.87	0.32523	2.408000	0.44227	4.225000	0.42617	0.676000	0.76740	0.191000	0.24200	0.998000	0.33993	0.745000	0.35611	0.0715:0.2706:0.6579:0.0	9.471	0.38007	741	0.52966	.	.	.	.	.	.	Likely benign	0	0	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	0.007553	0.005051	0.005435	0.000000	0.000000	0.008621	0.015244	0.011364	0.05	1353.43	35	chr18	2937817	.	G	A	1353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=418;ExcessHet=0;FS=1.611;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=2.01;SOR=0.544	GT:AD:DP:GQ:PL	0/1:55,52:107:99:1365,0,1484	9	0	1	0
chr18	8798148	8798148	G	C	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon8:c.G3250C:p.G1084R,MTCL1:NM_001378207:exon8:c.G3250C:p.G1084R,MTCL1:NM_001378206:exon9:c.G3373C:p.G1125R,MTCL1:NM_015210:exon10:c.G2293C:p.G765R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0120197201985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23360	T	0.198	0.30926	T	0.002	0.09854	B	0.004	0.10090	B	0.529970	0.05252	N	1.263710	1	0.08975	N	1.355	0.33814	L	0.98	0.42122	T	0.05	0.06369	N	0.194	0.24883	-1.0713	0.09129	T	0.050	0.21143	T	10	0.058656007	0.06929	T	0.01202	0.30212	T	0.019	0.03383	.	.	0.136095386433	0.13204	0.019041360833795373	0.01858	0.130242658533	0.14695	0.261842608452	0.05112	T	0.024864	0.18706	T	-0.231649	0.16431	T	-0.570524	0.15401	T	0.0938409338886357	0.11666	T	0.749925	0.37107	T	0.03434858	0.03837	0.036096565	0.02989	0.03434858	0.03837	0.036096565	0.02988	-3.892	0.23774	T	.	.	0.130	0.28492	B	.;.;.;.;.	.;.;.;.;.	0.382915	0.07547	4.199	0.53638328546977176	0.04979	0.14580	0.18478	N	AEFGBI	0.098332	0.19816	N	-1.53370885454679	0.01632	0.07136795	-1.57006069004703	0.01841	0.083892	0.999933773517828	0.46732	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	4.85	-1.64	0.07874	0.570000	0.23357	0.009000	0.13411	-0.782000	0.03316	0.002000	0.15269	0.000000	0.08366	0.010000	0.09038	0.2733:0.1061:0.5123:0.1083	3.451	0.07066	872	0.31118	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	595.43	40	chr18	8798148	.	G	C	595.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.428;DP=411;ExcessHet=0;FS=3.191;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=-1.207;SOR=1.088	GT:AD:DP:GQ:PL	0/1:50,27:77:99:607,0,1323	9	0	1	0
chr18	10708372	10708372	T	C	exonic	PIEZO2	.	nonsynonymous SNV	PIEZO2:NM_001378183:exon40:c.A5491G:p.I1831V	Arthrogryposis, distal, type 3, Autosomal dominant;Arthrogryposis, distal, type 5, Autosomal dominant;Arthrogryposis, distal, with impaired proprioception and touch, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14222291	0.27016	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439156	0.12095	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	1.151794	0.15400	11.82	0.70872949506404204	0.09439	0.77982	0.38409	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.031128271045097	0.13984	0.106106	0.02776	0	0.105846	0.03286	0	0.078618	0.02440	0	0.057018	0.00518	0	0.462877	0.38843	5.79	2.16	0.26663	0.405000	0.20738	2.530000	0.33163	-0.201000	0.08892	0.998000	0.41325	1.000000	0.68203	0.962000	0.52141	0.1897:0.0686:0.3727:0.369	3.194	0.06232	827	0.39843	.	.	.	.	.	.	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	37.79	.	chr18	10708372	.	T	C	37.79	.	AC=2;AF=0.167;AN=12;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=18.9;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	5	1	0	4
chr18	14803765	14803765	T	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon24:c.T2225G:p.V742G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00706856498388	.	.	0.0004	0.0005	0.0002	0	0	1.837e-05	0	0.0019	0.0001035	16	154602	rs201930187	0.0003	0.0004	0.0002	0.0004	0.0026	0.0002	0.0002	0.0023	0.0022	0.0006	0.0003	7.697e-05	0.0008	3.752e-05	0.0014	6.846e-05	0.0002	0.0026	0.0008	0.0010	0.0007	0.0010	0.0044	0.0007	0.0007	0.0029	0.0025	0.0019	0	0.0004	0	0.0017	0	0	0.0002	0.0010	0.0044	0.004	0.65419	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.04	0.26193	L	3.32	0.06214	T	-1.0	0.26422	N	0.178	0.19190	-0.9816	0.34632	T	0.011	0.04042	T	9	0.006880611	0.00156	T	0.007069	0.18731	T	0.065	0.18881	0.187	0.09646	0.0666544352282	0.05500	0.0014772188668790728	0.00136	0.199299692912	0.22328	0.738695383072	0.72779	T	0.003147	0.02546	T	-0.367802	0.03706	T	-0.766098	0.02899	T	0.00386776699539857	0.00041	T	0.275372	0.04709	T	0.069399394	0.15202	0.07285497	0.15767	0.069399394	0.15202	0.07285497	0.15767	-8.23	0.62627	D	.	.	0.208	0.43462	B	.	.	0.173881	0.05623	2.076	0.29473459778856803	0.01565	0.00111	0.00708	N	AEFI	0.020952	0.00882	N	-1.99680460218068	0.00215	0.009214503	-2.1186660006152	0.00170	0.007463557	6.02251916974329E-4	0.07437	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.65	-3.3	0.04692	-0.444000	0.06926	.	.	-1.470000	0.01072	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.313:0.0:0.2907:0.3963	3.013	0.05682	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	409.43	34	chr18	14803765	.	T	G	409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.51;DP=382;ExcessHet=0;FS=3.945;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.09;MQRankSum=-3.917;QD=7.44;ReadPosRankSum=0.919;SOR=1.033	GT:AD:DP:GQ:PL	0/1:35,20:55:99:421,0,916	9	0	1	0
chr18	23953103	23953103	G	T	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127718:exon36:c.G4855T:p.A1619S,LAMA3:NM_000227:exon37:c.G5023T:p.A1675S,LAMA3:NM_001127717:exon73:c.G9682T:p.A3228S,LAMA3:NM_198129:exon74:c.G9850T:p.A3284S	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	772090	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.130	0.095383222299	.	0.000199681	0.0002	0	0	0	0	0	0	0.0012	0.0001358	21	154602	rs563708367	6.294e-05	6.293e-05	3.948e-05	8.664e-05	0.0011	5.228e-05	4.846e-05	0.0009	0.0008	2.988e-05	0	0	0	0	0	0	0	0.0011	3.282e-05	3.281e-05	2.569e-05	4.028e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.021	0.72154	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.16	0.78082	T	-1.12	0.31778	N	0.172	0.20660	-0.8954	0.48446	T	0.208	0.56676	T	9	0.038548917	0.02280	T	0.095383	0.76418	D	0.130	0.35528	0.602	0.73346	0.445210270852	0.44144	0.4709130688852207	0.47010	0.141034383321	0.15908	0.229263484478	0.01914	T	0.014607	0.12402	T	-0.455603	0.01046	T	-0.467752	0.25758	T	0.0601339120120926	0.07190	T	0.851815	0.53646	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.10111	B	.;.;.;.;.	.;.;.;.;.	1.514306	0.19452	14.27	0.98789918032329005	0.46269	0.09544	0.15276	N	AEFDBI	0.210825	0.33667	N	-0.745309108471153	0.14761	0.7380653	-0.678902243770895	0.17489	0.9301591	0.103805662601731	0.16457	0.638212	0.43195	0	0.627178	0.54094	0	0.527494	0.11647	0	0.668105	0.65232	0	.	.	6.07	0.456	0.15868	-0.392000	0.07375	-0.018000	0.12964	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.968000	0.53726	0.4912:0.1318:0.377:0.0	6.233	0.19955	528	0.73785	.;Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1486.43	33	chr18	23953103	.	G	T	1486.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.302;DP=426;ExcessHet=0;FS=2.374;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.356;SOR=0.481	GT:AD:DP:GQ:PL	0/1:58,64:122:99:1498,0,1400	9	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	.	.	.	.	.	.	.	.	0.4375	1362.11	52	chr18	31541297	.	G	A	1362.11	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-0.721;DP=562;ExcessHet=7.0302;FS=370.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.35;ReadPosRankSum=1.53;SOR=10.577	GT:AD:DP:GQ:PL	0/1:28,25:53:99:207,0,422	1	0	7	2
chr18	36355611	36355611	C	T	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281739:exon2:c.C238T:p.R80W,FHOD3:NM_001281740:exon2:c.C238T:p.R80W,FHOD3:NM_025135:exon2:c.C238T:p.R80W	.	.	.	.	.	.	.	.	.	.	.	1289924	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0129592782551	0.0002	.	0.0001	0	0	0	0	0.0003	0	6.066e-05	0.0001423	22	154602	rs199791578	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	5.974e-05	6.708e-05	0.0017	0	0	0	0.0002	0.0001	4.637e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.707e-05	0.0002	0.0001	0	0	6.546e-05	0.0020	0	0	0	0.0002	0	0	0.102	0.30515	T	0.004	0.74150	D	1.0	0.90584	D	0.923	0.67262	D	0.000086	0.51296	D	0.125561	0.809879	0.34626	D	1.545	0.39105	L	1.72	0.26588	T	-5.37	0.84882	D	0.726	0.72746	-0.8920	0.48758	T	0.112	0.40075	T	10	0.24238086	0.41433	T	0.012959	0.31981	T	0.201	0.48592	.	.	0.290620346082	0.28682	0.4230178241528686	0.42218	0.680399982641	0.59990	0.753525614738	0.74967	T	0.167645	0.51434	T	-0.167944	0.25545	T	-0.188873	0.55695	T	0.484872579574585	0.32076	T	0.985835	0.95907	D	0.39227214	0.60193	0.3274499	0.58643	0.39227214	0.60193	0.3274499	0.58642	-7.879	0.60352	D	.	.	0.223	0.57987	B	.;.;.	.;.;.	4.765186	0.77079	26.6	0.99931823290973243	0.99387	0.83211	0.42347	D	AEFDBIJ	0.533402	0.55287	D	0.616290011207627	0.74205	6.09318	0.641851382683528	0.78006	6.78997	0.999999999126531	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	6.06	5.16	0.70563	2.698000	0.46736	4.704000	0.44424	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1456:0.8544:0.0:0.0	14.625	0.68214	860	0.33753	.;.;Rho GTPase-binding/formin homology 3 (GBD/FH3) 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	.	.	.	.	.	.	.	.	0.05	1123.43	39	chr18	36355611	.	C	T	1123.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.383;DP=410;ExcessHet=0;FS=5.176;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-1.512;SOR=1.251	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1135,0,1211	9	0	1	0
chr18	46240073	46240073	G	A	exonic	C18orf25	.	nonsynonymous SNV	C18orf25:NM_145055:exon3:c.G784A:p.D262N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00601378408792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.37310	T	0.728	0.42542	P	0.346	0.42645	B	0.000003	0.62929	D	0.101468	0.997918	0.81001	D	1.79	0.46772	L	.	.	.	.	.	.	0.679	0.68603	-0.8202	0.53921	T	0.161	0.49581	T	9	0.4463662	0.58422	T	0.006014	0.15698	T	.	.	0.38	0.39645	0.134007934775	0.12933	0.2153016546476291	0.21446	.	.	.	.	.	0.029891	0.21315	T	-0.0775697	0.40108	T	-0.3492	0.39297	T	0.70624303817749	0.41018	D	0.891811	0.62701	D	0.2797932	0.51029	0.28083086	0.54061	0.2797932	0.51028	0.28083086	0.54060	-4.486	0.30705	T	.	.	0.104	0.18950	B	.	.	4.220875	0.63840	24.6	0.99714486759230658	0.81563	0.94905	0.62737	D	AEFGBI	0.637919	0.61652	D	0.414078563030535	0.62197	4.431631	0.532581244434388	0.70194	5.469631	0.999999984624883	0.74766	0.653281	0.48532	0	0.653731	0.59785	0	0.675528	0.61593	0	0.664235	0.64389	0	.	.	5.76	5.76	0.90726	5.325000	0.65649	9.910000	0.82419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.138:0.862:0.0	15.455	0.75037	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	.	.	.	.	.	.	.	.	0.05	1200.43	33	chr18	46240073	.	G	A	1200.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=399;ExcessHet=0;FS=2.756;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.478;SOR=1.075	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1212,0,1256	9	0	1	0
chr18	53157503	53157503	G	A	exonic	DCC	.	nonsynonymous SNV	DCC:NM_005215:exon8:c.G1409A:p.G470D	Colorectal cancer, somatic;Esophageal carcinoma, somatic;Mirror movements 1, Autosomal dominant	1	1516	5	0	0	5	0.00164636	.	.	.	185695	not_provided|Amenorrhea|Mirror_movements_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000141,MONDO:MONDO:0001836,MedGen:C0002453|MONDO:MONDO:0008002,MedGen:C1834870,OMIM:157600,Orphanet:238722	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.344	0.0186963007183	0.0046	0.000798722	0.0032	0.0008	0.0010	0.0001	0.0021	0.0052	0.0066	6.061e-05	0.0032276	499	154602	rs141813053	0.0043	0.0043	0.0045	0.0042	0.0052	0.0042	0.0042	0.0051	0.0051	0.0007	0.0012	0.0008	2.519e-05	0.0023	0.0031	0.0052	0.0041	0.0001	0.0029	0.0029	0.0032	0.0027	0.0052	0.0027	0.0026	0.0047	0.0046	0.0010	0	0.0014	0	0	0.0022	0.0034	0.0052	0.0024	0.0010	0.001	0.78490	D	0.003	0.76473	D	0.72	0.42342	P	0.775	0.57058	P	0.000001	0.84330	D	0.000000	0.999916	0.53665	D	1.74	0.45129	L	0.39	0.57419	T	-4.79	0.80595	D	0.662	0.69825	-0.6421	0.63056	T	0.230	0.59521	T	10	0.009430081	0.00213	T	0.018696	0.40848	T	0.344	0.66582	.	.	0.819190257506	0.81748	0.49064139777321825	0.48984	0.271221807874	0.29642	0.600528478622	0.52979	T	0.355735	0.72269	T	-0.116387	0.33715	T	0.0630708	0.74449	D	0.0460880255931831	0.04800	T	0.948305	0.80601	D	0.8650983	0.88477	0.88993573	0.94262	0.854984	0.87708	0.9052229	0.95349	-8.518	0.64548	D	.	.	0.245	0.47976	B	.;.;.	.;.;.	4.364282	0.67135	25.1	0.9731862044675279	0.33365	0.98425	0.82644	D	AEFI	0.866774	0.78631	D	0.380686620629782	0.60376	4.225858	0.484920809019952	0.66990	5.024568	0.999012098707405	0.38212	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	7.294000	0.78101	9.919000	0.82489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.966	0.89020	643	0.63827	Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|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	.	.	.	.	.	.	.	.	0.05	1661.43	33	chr18	53157503	.	G	A	1661.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.675;DP=457;ExcessHet=0;FS=4.32;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.65;SOR=0.414	GT:AD:DP:GQ:PL	0/1:65,67:132:99:1673,0,1723	9	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	.	.	.	.	.	.	.	.	0.4444	1077.5	85	chr18	65824683	.	C	G	1077.5	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.26;DP=852;ExcessHet=10.3881;FS=190.814;InbreedingCoeff=-0.7227;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=1.05;SOR=10.452	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,27:92:99:.:.:176,0,1410:.	1	0	8	1
chr18	80137253	80137253	A	G	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.A1840G:p.T614A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0122819648781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.788e-06	4.788e-06	4.084e-06	5.5e-06	2.519e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	2.519e-05	0	0	4.496e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.07	0.43721	T	0.946	0.53363	P	0.723	0.54990	P	0.000002	0.62929	D	0.000000	0.998345	0.44796	D	2.175	0.60977	M	.	.	.	-2.18	0.49187	N	0.649	0.66016	-0.6148	0.64205	T	0.264	0.63544	T	8	0.65507615	0.69826	D	0.012282	0.30711	T	0.155	0.40530	0.505	0.59924	0.715051379167	0.71254	0.8196360381692313	0.81920	0.620895996431	0.56390	0.64833521843	0.59749	T	0.203092	0.56146	T	0.0595897	0.59561	T	-0.15218	0.59050	T	0.915191531181335	0.57212	D	0.707729	0.31835	T	0.19208002	0.40862	0.19763075	0.43554	0.19208002	0.40862	0.19763075	0.43553	-4.338	0.28706	T	.	.	0.328	0.55067	B	.	.	3.603973	0.50915	23.0	0.99652084222060089	0.77380	0.89476	0.49965	D	AEFGBCI	0.245421	0.36636	N	0.387039851805356	0.60720	4.264019	0.355624480142265	0.58849	4.05799	0.999999284680407	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.86	4.86	0.62624	4.973000	0.63479	11.044000	0.85213	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	1.0:0.0:0.0:0.0	14.630	0.68251	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1904.43	98	chr18	80137253	.	A	G	1904.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=841;ExcessHet=0;FS=0.609;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.46;SOR=0.753	GT:AD:DP:GQ:PL	0/1:74,70:144:99:1916,0,1922	9	0	1	0
chr19	501786	501786	-	CTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.785_786insCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA:p.E263Sfs*46	.	504	981	36	0	1	37	0.018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0046	0.0044	0	0.0003	0	0	0	0.0015	7.713e-05	0.0005	0.0052	0.0015	0.0017	0.0008	0.0023	0.0439	0.0011	0.0009	0.0305	0.0261	0	0	0	0	0	0	0	0	0.0070	0.0439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	925.85	58	chr19	501786	.	C	CCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA	925.85	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.066;DP=539;ExcessHet=0;FS=3.907;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.333;MQ=59.22;MQRankSum=-1.266;QD=18.15;ReadPosRankSum=-1.782;SOR=1.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,28:51:99:0|1:501785_C_CAGGAG:931,0,729:501785	2	0	1	7
chr19	1041872	1041872	C	G	exonic	ABCA7	.	nonsynonymous SNV	ABCA7:NM_019112:exon4:c.C202G:p.P68A	.	410	1108	4	0	0	4	0.0018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.675	0.229377202545	.	0.000599042	0.0004	0	0	0	0.0003	0.0002	0	0.0021	0.0003299	51	154602	rs148580487	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0002	0.0016	0.0015	5.983e-05	0.0001	0	0	9.037e-05	0.0024	6.852e-05	0.0002	0.0018	0.0001	0.0001	6.422e-05	0.0002	0.0017	7.569e-05	6.275e-05	0.0008	0.0006	0	0	0.0002	0	0	0	0	0.0001	0	0.0017	0.068	0.44694	T	0.02	0.58613	D	0.673	0.41222	P	0.268	0.39801	B	.	.	.	.	0.838512	0.35029	D	2.945	0.84822	M	-7.43	0.99877	D	-5.77	0.94958	D	0.399	0.43995	1.068	0.98546	D	0.985	0.99551	D	9	0.085891426	0.14546	T	0.229377	0.88181	D	0.675	0.88013	.	.	0.953123744604	0.95262	0.5166572780344041	0.51588	0.145133145497	0.16409	0.38816139102	0.23411	T	0.637807	0.88855	D	-0.110784	0.34638	T	0.0548597	0.73904	D	0.211479053344443	0.21031	T	0.845915	0.67928	T	0.15308574	0.34718	0.20698264	0.44937	0.15308574	0.34718	0.20698264	0.44936	-8.418	0.63884	D	.	.	0.075	0.07841	B	.;.;.;.	.;.;.;.	0.979052	0.13562	10.09	0.99193043765300282	0.55053	0.80388	0.40039	D	ALL	0.364065	0.45274	N	0.0701313893029329	0.45072	2.770053	0.0660987616574241	0.42858	2.599657	0.999999886826082	0.74766	0.660377	0.49826	0	0.627608	0.54475	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	4.59	2.44	0.28875	1.481000	0.35083	-0.332000	0.09882	0.587000	0.30956	0.993000	0.37899	0.000000	0.08366	0.307000	0.24666	0.0:0.8079:0.0:0.1921	8.687	0.33404	988	0.01987	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002024	0.000000	0.001362	0.005882	0.000000	0.000000	0.000000	0.003788	0.05	732.43	35	chr19	1041872	.	C	G	732.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.61;DP=299;ExcessHet=0;FS=4.451;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=1.28;SOR=1.249	GT:AD:DP:GQ:PL	0/1:17,27:44:99:744,0,422	9	0	1	0
chr19	1053439	1053439	G	A	exonic	ABCA7	.	nonsynonymous SNV	ABCA7:NM_019112:exon24:c.G3331A:p.G1111S	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.101329137782	0.0003	0.000599042	0.0006	0	0	0.0002	0.0004	0.0003	0	0.0027	0.0003363	52	154602	rs150012110	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0017	0.0015	9.014e-05	0.0001	0	0	8.044e-05	0.0027	7.665e-05	0.0002	0.0018	0.0001	0.0001	7.708e-05	0.0002	0.0019	9.738e-05	8.253e-05	0.0010	0.0007	2.407e-05	0	0.0002	0	0	0	0	0.0001	0	0.0019	0.058	0.37750	T	0.199	0.27679	T	0.996	0.68779	D	0.781	0.57337	P	.	.	.	.	0.93646	0.27743	N	1.495	0.37439	L	-2.19	0.86815	D	-3.16	0.64246	D	0.414	0.45992	-0.2198	0.77156	T	0.583	0.85035	D	9	0.025553018	0.00746	T	0.101329	0.77414	D	0.314	0.63588	.	.	0.870678369749	0.86941	0.466299937592426	0.46548	0.352166808134	0.37058	0.485178291798	0.36770	T	0.479067	0.80863	T	-0.372922	0.03449	T	-0.315717	0.43042	T	0.0920561350070638	0.11459	T	0.806319	0.45525	T	0.10761576	0.25447	0.16194937	0.37644	0.10761576	0.25446	0.16194937	0.37643	-8.001	0.61077	D	.	.	0.137	0.30502	B	.;.;.	.;.;.	2.914408	0.38671	20.8	0.99599520203835112	0.74101	0.84661	0.43746	D	AEFDGBHCI	0.160229	0.28614	N	-0.0739297274613822	0.38539	2.25872	-0.194026871940787	0.31755	1.800126	0.239940124118795	0.18560	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.49	2.34	0.28071	3.823000	0.55415	4.988000	0.46508	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.1085:0.0:0.8915:0.0	11.527	0.49834	988	0.01987	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002049	0.000000	0.001362	0.005917	0.055556	0.000000	0.000000	0.003846	0.05	1670.43	34	chr19	1053439	.	G	A	1670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=643;ExcessHet=0;FS=2.31;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-1.766;SOR=0.925	GT:AD:DP:GQ:PL	0/1:57,64:121:99:1682,0,1338	9	0	1	0
chr19	1621909	1621911	GAG	-	exonic	TCF3	.	nonframeshift deletion	TCF3:NM_001136139:exon11:c.882_884del:p.S295del,TCF3:NM_001351778:exon11:c.882_884del:p.S295del,TCF3:NM_001351779:exon11:c.882_884del:p.S295del,TCF3:NM_003200:exon11:c.882_884del:p.S295del	Agammaglobulinemia 8, autosomal dominant, Autosomal dominant	338	1182	2	0	0	2	0.000845309	.	.	.	728000	not_provided|TCF3-related_disorder|Agammaglobulinemia_8,_autosomal_dominant	MedGen:C3661900|.|MONDO:MONDO:0014840,MedGen:C4310786,OMIM:616941	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0022	0.000998403	0.0036	0.0006	0.0019	0.0009	0	0.0057	0.0029	0.0006	0.0018111	280	154602	rs550914200	0.0031	0.0031	0.0032	0.0031	0.0038	0.0031	0.0030	0.0037	0.0037	0.0009	0.0012	0.0002	5.101e-05	0.0007	0.0030	0.0038	0.0023	0.0006	0.0020	0.0019	0.0020	0.0019	0.0035	0.0018	0.0017	0.0031	0.0030	0.0007	0	0.0010	0.0006	0.0004	0.0005	0.0034	0.0035	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003557	0.000000	0.010929	0.000000	0.000000	0.000000	0.003125	0.000000	0.05	1445.39	33	chr19	1621908	.	TGAG	T	1445.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.74;DP=405;ExcessHet=0;FS=7.108;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=-0.306;SOR=1.087	GT:AD:DP:GQ:PL	0/1:46,38:84:99:1457,0,1808	9	0	1	0
chr19	2120961	2120961	G	A	exonic	AP3D1	.	nonsynonymous SNV	AP3D1:NM_001261826:exon14:c.C1382T:p.A461V,AP3D1:NM_001374799:exon14:c.C1382T:p.A461V,AP3D1:NM_003938:exon14:c.C1382T:p.A461V	.	.	.	.	.	.	.	.	.	.	.	2240229	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00352789778742	0.0002	.	3.347e-05	0	0	0	0	6.075e-05	0	0	2.59e-05	4	154602	rs374029882	1.439e-05	1.505e-05	1.636e-05	1.239e-05	0.0003	9.24e-06	7.85e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.529e-05	0	2.319e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.291	0.14945	T	0.292	0.21210	T	0.513	0.37366	P	0.112	0.31615	B	0.070585	0.21529	N	0.503387	1	0.08975	N	0.83	0.20963	L	1.71	0.26737	T	0.05	0.06369	N	0.16	0.20660	-1.0373	0.18140	T	0.035	0.15030	T	10	0.15526417	0.29267	T	0.003528	0.08031	T	0.033	0.08068	.	.	0.442105453903	0.43831	0.11815798202345687	0.11742	0.832042045282	0.67660	0.292900800705	0.09346	T	0.071818	0.34303	T	-0.367211	0.03738	T	-0.634798	0.10053	T	0.0579557307064533	0.06843	T	0.838916	0.54589	T	0.033929966	0.03710	0.040078957	0.04250	0.033929966	0.03710	0.040078957	0.04249	-5.081	0.37706	T	.	.	0.072	0.04806	B	.;.;.;.;.	.;.;.;.;.	1.209614	0.16023	12.27	0.9761216598911816	0.34915	0.12558	0.17342	N	AEFDBHI	0.093464	0.18910	N	-0.83575019366947	0.12403	0.6043873	-0.923357880085977	0.11543	0.5887237	5.20928927127161E-4	0.07201	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.67	-0.774	0.10437	1.953000	0.39977	2.860000	0.35197	0.676000	0.76740	0.043000	0.21118	0.091000	0.22535	0.014000	0.10232	0.6174:0.0:0.3826:0.0	7.978	0.29330	946	0.12043	Clathrin/coatomer adaptor, adaptin-like, N-terminal;.;.;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3046.43	33	chr19	2120961	.	G	A	3046.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.691;DP=529;ExcessHet=0;FS=2.383;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=2.9;SOR=0.893	GT:AD:DP:GQ:PL	0/1:93,120:213:99:3058,0,2313	9	0	1	0
chr19	7631506	7631506	C	T	exonic	PET100	.	nonsynonymous SNV	PET100:NM_001171155:exon4:c.C172T:p.R58W	Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial	.	.	.	.	.	.	.	.	.	.	2013604	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.617	0.112943574383	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756201257	4.335e-06	4.104e-06	1.426e-06	7.321e-06	3.789e-05	1.56e-06	1.02e-06	1.006e-05	4.79e-06	0	0	0	2.801e-05	0	0	1.854e-06	0	3.789e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.92824	D	0.999	0.77913	D	0.855	0.60933	P	.	.	.	.	0.952959	0.37808	D	.	.	.	.	.	.	.	.	.	0.616	0.63204	-0.3924	0.72266	T	0.295	0.66669	T	7	0.6535407	0.69741	D	0.112944	0.79128	D	0.617	0.85091	0.557	0.67547	0.281381271821	0.27740	0.9524434676313074	0.95228	.	.	0.467569559813	0.34347	T	0.178755	0.52951	T	-0.0715108	0.41085	T	-0.212718	0.53435	T	0.875953316688538	0.52583	D	0.927707	0.73352	D	0.57235867	0.71190	0.6748621	0.80910	0.57235867	0.71191	0.6748621	0.80911	-10.48	0.76732	D	0.3999891913204591	0.49193	0.149	0.48039	B	.;.	.;.	4.892634	0.80347	27.3	0.9991533336835775	0.98379	0.91513	0.53688	D	AEFBI	0.711800	0.66513	D	0.42160677699456	0.62611	4.479925	0.378319711846455	0.60231	4.208351	0.999992279707028	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.17	4.17	0.48303	1.927000	0.39724	5.825000	0.50115	0.599000	0.40250	0.947000	0.32937	1.000000	0.68203	0.955000	0.50612	0.2142:0.7858:0.0:0.0	9.302	0.37010	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	940.43	33	chr19	7631506	.	C	T	940.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.149;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.746;SOR=0.828	GT:AD:DP:GQ:PL	0/1:27,38:65:99:952,0,643	9	0	1	0
chr19	7846639	7846639	G	A	exonic	EVI5L	.	nonsynonymous SNV	EVI5L:NM_001159944:exon2:c.G97A:p.D33N,EVI5L:NM_145245:exon2:c.G97A:p.D33N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.01411501964	.	.	8.437e-06	0	8.696e-05	0	0	0	0	0	6.5e-06	1	154602	rs752591195	8.211e-06	8.209e-06	6.808e-06	9.629e-06	5.8e-05	4.38e-06	3.46e-06	2.194e-05	1.43e-05	0	2.237e-05	0	2.52e-05	0	0	4.497e-06	0	5.8e-05	6.572e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.057	0.37966	T	0.114	0.36901	T	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	N	0.057490	0.999964	0.52935	D	1.91	0.51138	L	3.44	0.05375	T	-2.88	0.60507	D	0.329	0.44090	-1.1811	0.00354	T	0.051	0.21611	T	10	0.2734401	0.44893	T	0.014115	0.34021	T	0.192	0.47115	0.151	0.05441	0.401767401478	0.39795	0.773925030984139	0.77342	2.11594841372	0.94961	0.710477471352	0.68663	T	0.21438	0.57595	T	-0.379119	0.03155	T	-0.578755	0.14655	T	0.859674751758575	0.51021	D	0.90401	0.66351	D	0.2496083	0.47956	0.20666046	0.44889	0.2496083	0.47956	0.20666046	0.44888	-7.278	0.56038	T	.	.	0.527	0.65789	A	.;.	.;.	5.194908	0.87139	29.1	0.99847246983305293	0.92663	0.98330	0.81695	D	AEFDBI	0.844460	0.76142	D	0.594645945216863	0.72838	5.869409	0.517729503302975	0.69182	5.324245	0.316327309149483	0.19339	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.78	3.74	0.42108	8.057000	0.89250	9.744000	0.81446	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0939:0.0:0.9061:0.0	10.774	0.45540	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	.	.	.	.	.	.	.	.	0.05	1044.43	37	chr19	7846639	.	G	A	1044.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.37;DP=411;ExcessHet=0;FS=5.085;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.314;SOR=0.96	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1056,0,1120	9	0	1	0
chr19	8138221	8138221	G	C	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon10:c.C1121G:p.P374R,FBN3:NM_032447:exon10:c.C1121G:p.P374R	.	403	1112	7	0	0	7	0.00313761	.	.	.	757357	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.155	0.00874525464862	0.0005	0.000798722	0.0008	0	0.0003	0.0001	0	0.0012	0.0012	0.0006	0.0007438	115	154602	rs142847357	0.0007	0.0007	0.0006	0.0007	0.0021	0.0006	0.0006	0.0012	0.0009	2.997e-05	0.0003	0.0116	2.519e-05	0	0.0021	0.0005	0.0010	0.0007	0.0005	0.0005	0.0004	0.0005	0.0006	0.0004	0.0004	0.0004	0.0004	9.616e-05	0	0.0001	0.0063	0	0	0	0.0006	0.0005	0.0006	0.564	0.06302	T	0.631	0.07173	T	0.0	0.02946	B	0.0	0.01387	B	0.006873	0.31745	U	0.000000	1	0.08975	N	-0.345	0.03330	N	-2.16	0.86549	D	-1.96	0.45404	N	0.135	0.13198	-0.8284	0.53403	T	0.293	0.66450	T	10	0.0046862364	0.00098	T	0.008745	0.23074	T	0.155	0.40530	.	.	0.471052466308	0.46733	0.6606728285068566	0.66004	0.201026677279	0.22505	0.351193159819	0.18097	T	0.049061	0.28197	T	-0.41214	0.01924	T	-0.468993	0.25625	T	0.00987980011636055	0.00131	T	0.20258	0.02331	T	0.025027743	0.01394	0.040235918	0.04303	0.025027743	0.01394	0.040235918	0.04302	-3.828	0.21223	T	.	.	0.057	0.00514	B	.;.;.	.;.;.	-0.294046	0.02643	0.335	0.18974491837811952	0.00620	0.00373	0.01896	N	AEFDBI	0.020907	0.00875	N	-1.41721890646738	0.02487	0.1099057	-1.4378587572183	0.02882	0.1334057	1.28309282417661E-4	0.05386	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.562822	0.20929	0	.	.	3.85	-1.63	0.07900	-0.014000	0.12594	.	.	-1.915000	0.00511	0.068000	0.22015	0.090000	0.22521	0.000000	0.00833	0.1505:0.4119:0.4376:0.0	8.995	0.35211	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	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.05	981.43	34	chr19	8138221	.	G	C	981.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.764;DP=406;ExcessHet=0;FS=0.739;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.401;SOR=0.809	GT:AD:DP:GQ:PL	0/1:60,44:104:99:993,0,1421	9	0	1	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	74.97	385	chr19	8888826	.	T	*	74.97	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.96;DP=3805;ExcessHet=15.1594;FS=9.58;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=57.53;MQRankSum=-10.06;QD=0.02;ReadPosRankSum=1.04;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:320,94:462:99:0|1:8888826_T_*:3006,0,13142:8888826	2	0	8	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	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	.	.	.	.	.	.	.	.	0.35	1508.95	40	chr19	8900017	.	C	G	1508.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.689;DP=2342;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.88;MQRankSum=-15.15;QD=0.85;ReadPosRankSum=1.45;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,25:315:99:0|1:8900009_C_T:177,0,12082:8900009	3	0	7	0
chr19	11364166	11364166	C	T	exonic	PLPPR2	.	nonsynonymous SNV	PLPPR2:NM_022737:exon9:c.C953T:p.P318L	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0177260916207	.	.	8.411e-06	0	0	0	0	1.515e-05	0	0	6.5e-06	1	154602	rs750147684	6.168e-06	8.209e-06	4.089e-06	8.27e-06	2.993e-05	2.9e-06	2.1e-06	1.94e-06	1.28e-06	2.993e-05	0	0	0	0	0	5.404e-06	1.66e-05	1.163e-05	6.571e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.805	0.03077	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.366202	0.04333	N	1.422770	1	0.81001	D	.	.	.	1.55	0.29866	T	1.41	0.00825	N	0.409	0.44952	-1.0659	0.10339	T	0.058	0.24204	T	9	0.073316365	0.11060	T	0.017726	0.39542	T	0.072	0.21020	0.232	0.16005	0.486707162081	0.48303	.	.	.	.	.	.	.	0.011716	0.10413	T	-0.183172	0.23265	T	-0.40026	0.33354	T	0.331740647554398	0.26294	T	0.507449	0.16094	T	0.036405016	0.04471	0.03604941	0.02974	0.036405016	0.04471	0.03604941	0.02974	-4.029	0.24236	T	.	.	0.090	0.12750	B	.	.	1.282316	0.16821	12.79	0.89859793520718456	0.19165	0.54024	0.29514	D	AEFDGBI	0.074389	0.14909	N	-0.354070184586498	0.27123	1.485594	-0.249486611460038	0.29789	1.671847	0.988282708574113	0.31463	0.706548	0.73137	0	0.633656	0.55848	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.3	2.07	0.26004	0.492000	0.22144	.	.	0.549000	0.26987	1.000000	0.71638	0.985000	0.30750	0.998000	0.85391	0.0:0.7068:0.1882:0.1049	6.176	0.19659	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	.	.	.	.	.	.	.	.	0.05	1273.43	35	chr19	11364166	.	C	T	1273.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=467;ExcessHet=0;FS=1.338;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-1.194;SOR=0.864	GT:AD:DP:GQ:PL	0/1:98,55:153:99:1285,0,2394	9	0	1	0
chr19	11867712	11867712	A	C	exonic	ZNF439	.	nonsynonymous SNV	ZNF439:NM_001348724:exon3:c.A235C:p.K79Q,ZNF439:NM_001348725:exon3:c.A235C:p.K79Q,ZNF439:NM_152262:exon3:c.A643C:p.K215Q,ZNF439:NM_001348718:exon4:c.A667C:p.K223Q,ZNF439:NM_001348719:exon4:c.A658C:p.K220Q,ZNF439:NM_001348721:exon4:c.A604C:p.K202Q,ZNF439:NM_001348722:exon4:c.A502C:p.K168Q,ZNF439:NM_001348720:exon5:c.A604C:p.K202Q,ZNF439:NM_001348723:exon5:c.A502C:p.K168Q	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00157691329888	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs762134920	7.525e-06	7.524e-06	1.361e-06	1.375e-05	0.0001	4.04e-06	2.95e-06	7.124e-05	5.482e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.42487	D	0.049	0.48336	D	0.993	0.65571	D	0.892	0.63276	P	.	.	.	.	1	0.08975	N	1.345	0.33447	L	1.28	0.35960	T	-3.37	0.66665	D	0.155	0.16028	-1.0279	0.21136	T	0.103	0.37994	T	9	0.19453731	0.35269	T	0.001577	0.02523	T	0.037	0.09474	0.492	0.57890	0.452834868696	0.44909	0.00646029522949608	0.00614	0.270498781505	0.29572	0.214980989695	0.01040	T	0.039342	0.25157	T	-0.472571	0.00819	T	-0.679924	0.06988	T	0.363287270069122	0.27538	T	0.337066	0.07816	T	0.13422662	0.31194	0.112491064	0.27144	0.13422662	0.31194	0.112491064	0.27143	-5.679	0.43506	T	.	.	0.134	0.28920	B	.;.	.;.	1.105597	0.14901	11.42	0.95442497820137684	0.26950	0.01357	0.04648	N	AEBI	0.038122	0.05348	N	-0.620888928728691	0.18317	0.9500372	-0.917231524689483	0.11688	0.5969714	0.0118636514083672	0.12247	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.749	-0.398	0.11800	-0.460000	0.06797	.	.	0.504000	0.22967	0.000000	0.06391	0.000000	0.08366	0.200000	0.21896	0.4123:0.0:0.2607:0.327	1.407	0.02145	934	0.15400	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	.	.	.	.	.	.	.	.	0.1	9736.12	33	chr19	11867712	.	A	C	9736.12	.	AC=2;AF=0.1;AN=20;DP=588;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=59.97;QD=34.9;SOR=0.79	GT:AD:DP:GQ:PL	1/1:0,279:279:99:9759,838,0	9	1	0	0
chr19	16164746	16164746	T	C	exonic	CIB3	.	nonsynonymous SNV	CIB3:NM_001300922:exon3:c.A367G:p.M123V,CIB3:NM_054113:exon5:c.A514G:p.M172V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.0644180049562	.	.	8.243e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs760914092	6.157e-06	6.156e-06	5.445e-06	6.875e-06	0.0002	2.9e-06	2.1e-06	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	4.967e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.015	0.17086	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.595	0.15482	N	-0.57	0.71307	T	-0.07	0.08033	N	0.64	0.65245	-0.9150	0.46220	T	0.153	0.48326	T	10	0.31901783	0.49294	T	0.064418	0.69272	D	0.402	0.71558	0.536	0.64585	0.594339124078	0.59111	0.8646875505138758	0.86432	0.302698484363	0.32595	0.622470021248	0.56078	T	0.106514	0.41792	T	0.18397	0.72406	D	0.123338	0.78456	D	0.648940920829773	0.38417	D	0.940406	0.77539	D	0.27048913	0.50121	0.23100002	0.48219	0.27048913	0.50120	0.23100002	0.48218	-3.098	0.11273	T	.	.	0.192	0.41171	B	.;.	.;.	2.412780	0.31014	18.61	0.29451352984000628	0.01563	0.96008	0.67117	D	AEFI	0.745432	0.68811	D	-0.394328254209281	0.25670	1.395235	-0.185207648157864	0.32078	1.821561	0.999996831123112	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.78	4.78	0.60666	6.014000	0.70438	5.042000	0.46920	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	13.776	0.62538	976	0.04745	EF-hand domain|EF-hand domain|EF-hand domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	4309.12	90	chr19	16164746	.	T	C	4309.12	.	AC=2;AF=0.1;AN=20;DP=816;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.13;SOR=1.345	GT:AD:DP:GQ:PL	1/1:0,143:143:99:4332,428,0	9	1	0	0
chr19	17264280	17264280	C	T	exonic	USHBP1	.	nonsynonymous SNV	USHBP1:NM_001321417:exon2:c.G20A:p.R7Q,USHBP1:NM_031941:exon2:c.G20A:p.R7Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0624639857634	.	.	9.077e-06	0	0	0	0	1.632e-05	0	0	6.5e-06	1	154602	rs768803771	6.161e-06	6.156e-06	4.086e-06	8.257e-06	2.322e-05	2.9e-06	2.1e-06	3.86e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	0	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.016223	0.28032	N	0.167681	0.572476	0.81001	D	1.83	0.48079	L	1.15	0.38236	T	-1.2	0.30555	N	0.582	0.60325	-0.7231	0.59309	T	0.144	0.46750	T	10	0.294846	0.47055	T	0.062464	0.68660	D	0.153	0.40148	0.267	0.21418	0.512134464093	0.50855	0.27610450375347445	0.27523	0.16793613129	0.18938	0.778774380684	0.78742	T	0.007914	0.07283	T	-0.044808	0.45232	T	-0.286654	0.46118	T	0.93496710062027	0.60283	D	0.877212	0.59013	D	0.29538044	0.52488	0.34593177	0.60268	0.29538044	0.52488	0.34593177	0.60268	-6.28	0.48563	T	.	.	0.632	0.78128	P	.;.;.	.;.;.	4.133300	0.61874	24.4	0.9986194686778368	0.94002	0.61755	0.31578	D	AEFDBCI	0.414359	0.48366	N	0.331187807201236	0.57756	3.944243	0.262401081079184	0.53358	3.505159	0.999998682870298	0.74766	0.538715	0.22204	0	0.547309	0.14657	0	0.78367	0.99111	0	0.375	0.06713	1	.	.	3.75	3.75	0.42236	3.355000	0.51978	5.825000	0.50115	0.596000	0.33519	0.673000	0.28375	0.986000	0.30841	0.896000	0.43308	0.0:1.0:0.0:0.0	11.787	0.51320	873	0.30802	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3238.12	34	chr19	17264280	.	C	T	3238.12	.	AC=2;AF=0.1;AN=20;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.06;SOR=0.795	GT:AD:DP:GQ:PL	1/1:0,101:101:99:3261,303,0	9	1	0	0
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	361.99	58	chr19	17286686	.	GTGTGTT	*	361.99	.	AC=4;AF=0.2;AN=20;DP=541;ExcessHet=0.2065;FS=5.819;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;QD=2.46;SOR=0.337	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,8:23:99:.:.:1992,510,365:.	6	0	4	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	292.77	55	chr19	17286688	.	GTGTT	*	292.77	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.579;DP=553;ExcessHet=2.8549;FS=4.441;InbreedingCoeff=-0.2462;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=1.28;SOR=0.43	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,15:23:99:.:.:1817,123,0:.	6	1	3	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1361.57	55	chr19	17286690	.	GTT	*	1361.57	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.542;DP=552;ExcessHet=5.1594;FS=4.31;InbreedingCoeff=-0.4141;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=2;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,15:23:99:.:.:1817,123,0:.	6	1	3	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4100.81	50	chr19	17286692	.	T	*	4100.81	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.268;DP=564;ExcessHet=0.2348;FS=4.99;InbreedingCoeff=-0.1111;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.42;SOR=1.13	GT:AD:DP:GQ:PL	1/1:0,15:23:99:1817,123,0	2	1	7	0
chr19	18258063	18258063	C	T	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon4:c.G3221A:p.R1074H,IQCN:NM_001145305:exon4:c.G2522A:p.R841H,IQCN:NM_025249:exon4:c.G2660A:p.R887H	.	427	1059	34	2	0	38	0.0176252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	0.0038	0.00299521	0.0047	0.0012	0.0047	0.0001	0.0002	0.0066	0.0092	0.0034	0.0042884	663	154602	rs141048177	0.0041	0.0041	0.0040	0.0042	0.0265	0.0040	0.0040	0.0231	0.0218	0.0014	0.0049	0.0208	2.519e-05	0.0003	0.0265	0.0040	0.0053	0.0035	0.0036	0.0036	0.0038	0.0033	0.0054	0.0033	0.0032	0.0045	0.0041	0.0010	0	0.0054	0.0216	0	0.0003	0.0374	0.0043	0.0104	0.0037	0.163	0.23450	T	0.095	0.48336	T	0.092	0.25296	B	0.002	0.06944	B	0.157719	0.03014	N	1.971570	1	0.08975	N	.	.	.	3.94	0.03597	T	-0.59	0.17624	N	0.075	0.11626	-0.9618	0.38839	T	0.007	0.02518	T	10	0.0044397414	0.00091	T	.	.	.	0.073	0.21317	.	.	0.0138822411134	0.00435	0.45776120767345174	0.45694	0.222400704968	0.24772	0.377672582865	0.21925	T	0.021313	0.16617	T	-0.62893	0.00097	T	-0.674686	0.07311	T	0.00170340232547441	0.00017	T	0.509649	0.16214	T	0.028322374	0.02152	0.030063309	0.01416	0.028322374	0.02151	0.030063309	0.01415	-5.103	0.40376	T	.	.	0.105	0.19559	B	.;.;.;.	.;.;.;.	1.248499	0.16447	12.55	0.94216204161609229	0.24461	0.05184	0.11004	N	AEFDBCI	0.064026	0.12409	N	-1.13637647039827	0.06007	0.2754035	-1.18334913895505	0.06187	0.2970505	1.35823505308899E-4	0.05486	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.58	1.52	0.22158	0.373000	0.20215	0.117000	0.14863	-0.881000	0.02461	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3029:0.6971:0.0	7.229	0.25209	871	0.31377	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027190	0.030303	0.036685	0.055556	0.000000	0.008621	0.015244	0.007576	0.15	4012.43	38	chr19	18258063	.	C	T	4012.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.65;DP=510;ExcessHet=0;FS=4.525;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=22.42;ReadPosRankSum=-0.754;SOR=1.169	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2756,258,0	8	1	1	0
chr19	18612988	18612990	GCT	-	exonic	TMEM59L	.	nonframeshift deletion	TMEM59L:NM_012109:exon1:c.30_32del:p.L17del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	.	0.0303	0.0208	0.0333	0.0172	0	0.0203	0	0.0353	0.0003946	61	154602	rs748071337	0.0007	0.0035	0.0006	0.0009	0.0026	0.0007	0.0007	0.0023	0.0021	0.0002	0.0016	0.0013	0.0002	0.0013	0.0009	0.0006	0.0007	0.0026	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0001	0	0	0	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010458	0.005814	0.007843	0.021930	0.050000	0.000000	0.011111	0.005051	0.05	402.39	34	chr19	18612987	.	CGCT	C	402.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.387;DP=258;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=1.38;SOR=0.627	GT:AD:DP:GQ:PL	0/1:16,11:27:99:414,0,635	9	0	1	0
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2025.92	50	chr19	21383393	.	G	*	2025.92	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.512;DP=557;ExcessHet=10.3881;FS=1.769;InbreedingCoeff=-0.6667;MLEAC=3;MLEAF=0.15;MQ=59.92;MQRankSum=0;QD=4.73;ReadPosRankSum=-0.219;SOR=0.6	GT:AD:DP:GQ:PL	0/1:72,53:125:99:1936,0,2793	7	0	3	0
chr19	32354953	32354953	A	G	exonic	ZNF507	.	nonsynonymous SNV	ZNF507:NM_014910:exon2:c.A2123G:p.Y708C,ZNF507:NM_001136156:exon3:c.A2123G:p.Y708C	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0228515914963	0.0003	0.000399361	0.0006	0	0.0004	0	0	0.0004	0.0012	0.0025	0.0005239	81	154602	rs148274835	0.0003	0.0003	0.0003	0.0004	0.0028	0.0003	0.0003	0.0018	0.0014	3.008e-05	0.0002	0.0029	2.529e-05	0	0.0028	0.0002	0.0007	0.0018	0.0002	0.0002	0.0001	0.0003	0.0012	0.0002	0.0001	0.0005	0.0004	0	0	0.0005	0.0026	0	0	0.0034	0.0001	0.0009	0.0012	0.008	0.58626	D	0.03	0.54159	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.053600	0.997674	0.44089	D	0.725	0.18768	N	1.6	0.28604	T	-4.37	0.77061	D	0.436	0.51226	-1.0489	0.14705	T	0.118	0.41495	T	10	0.01825124	0.00395	T	0.022852	0.45774	T	0.327	0.64926	.	.	0.276254252017	0.27237	0.46156508412601016	0.46074	0.391633832925	0.40362	0.661580622196	0.61636	T	0.270718	0.64300	T	-0.359891	0.04136	T	-0.296999	0.45039	T	0.173527146085768	0.18817	T	0.852615	0.54939	D	0.45657945	0.64457	0.31779838	0.57752	0.45657945	0.64458	0.31779838	0.57752	-12.521	0.87296	D	.	.	0.213	0.45906	B	.;.;.	.;.;.	4.621103	0.73381	26.0	0.99804337238406182	0.88906	0.94500	0.61366	D	AEBCI	0.856164	0.77336	D	0.449697657612272	0.64186	4.667572	0.446656965763622	0.64503	4.706922	0.999999161387728	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.43	4.42	0.52775	7.152000	0.77009	8.159000	0.76731	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.9281:0.0:0.0719:0.0	11.263	0.48323	905	0.23532	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001014	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1425.43	33	chr19	32354953	.	A	G	1425.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.003;DP=448;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.51;SOR=0.576	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1437,0,1546	9	0	1	0
chr19	32468761	32468761	G	A	exonic	DPY19L3	.	nonsynonymous SNV	DPY19L3:NM_001172774:exon16:c.G1645A:p.E549K,DPY19L3:NM_207325:exon16:c.G1645A:p.E549K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.030554813726	.	.	1.649e-05	0	0	0.0001	0	1.5e-05	0	0	1.94e-05	3	154602	rs751146451	1.3e-05	1.3e-05	1.362e-05	1.238e-05	0.0002	8.31e-06	6.7e-06	8.207e-05	5.79e-05	0	0	0	0.0002	0	0	1.079e-05	0	0	6.575e-06	6.569e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.104	0.29959	T	0.128	0.35710	T	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.34	0.67151	M	0.51	0.55439	T	-2.2	0.49519	N	0.719	0.72120	-0.7258	0.59174	T	0.302	0.67307	T	10	0.7326218	0.74402	D	0.030555	0.52842	D	0.424	0.73226	0.543	0.65589	0.681492719615	0.67878	0.7669641861939706	0.76645	0.631884088958	0.57135	0.730714082718	0.71611	T	0.053632	0.29498	T	0.172558	0.71359	D	0.17922	0.81949	D	0.465784799326658	0.31377	T	0.974103	0.94055	D	0.40597588	0.61144	0.37846848	0.62924	0.40597588	0.61145	0.37846848	0.62923	-8.873	0.66875	D	.	.	0.326	0.57274	B	.;.;.	.;.;.	5.783656	0.93535	33	0.99922359057855836	0.98852	0.99072	0.90815	D	AEFGBI	0.932507	0.92296	D	0.741569157457809	0.82354	7.74206	0.764533751585273	0.87240	9.15391	0.999999999969854	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	9.353000	0.96486	11.842000	0.97836	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.825	0.96608	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	.	.	.	.	.	.	.	.	0.05	317.43	33	chr19	32468761	.	G	A	317.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.017;DP=320;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.062;SOR=0.721	GT:AD:DP:GQ:PL	0/1:15,15:30:99:329,0,388	9	0	1	0
chr19	34482606	34482606	G	T	exonic	WTIP	.	nonsynonymous SNV	WTIP:NM_001080436:exon1:c.G632T:p.R211L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.581402753589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.28e-07	9.577e-06	0	1.964e-06	5.104e-05	0	0	.	.	0	0	0	0	0	0	0	0	5.104e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	0.211888	0.16345	U	0.489229	0.945777	0.27464	N	0.895	0.22405	L	-0.09	0.64086	T	.	.	.	0.118	0.10769	-0.8676	0.50709	T	0.176	0.51990	T	10	0.18737546	0.34245	T	0.581403	0.96250	D	.	.	.	.	0.51891315781	0.51535	0.469580404567103	0.46877	1.05456718301	0.76280	0.923379063606	0.98570	D	0.094549	0.39438	T	-0.0917987	0.37780	T	-0.369639	0.36932	T	0.720017433166504	0.41700	D	0.790821	0.43180	T	0.18089464	0.39233	0.13434947	0.32195	0.18089464	0.39233	0.13434947	0.32194	-6.901	0.53306	T	.	.	0.158	0.34906	B	.	.	4.146609	0.62163	24.4	0.97806768242502018	0.36103	0.64071	0.32289	D	AEFDBHCIJ	0.207018	0.33322	N	-0.4929581522126	0.22311	1.190441	-0.50408156662455	0.22041	1.19528	0.99999936920084	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.581474	0.35302	0	.	.	3.17	2.1	0.26226	1.751000	0.37967	5.961000	0.51824	0.516000	0.23499	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.114:0.0:0.6818:0.2043	5.368	0.15425	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	33.43	27	chr19	34482606	.	G	T	33.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.669;DP=196;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.23;ReadPosRankSum=-0.693;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:34482606_G_T:45,0,499:34482606	9	0	1	0
chr19	34482617	34482617	G	T	exonic	WTIP	.	nonsynonymous SNV	WTIP:NM_001080436:exon1:c.G643T:p.A215S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.372909289735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.18789	T	.	.	.	.	.	.	0.582720	0.11128	U	0.765588	0.999361	0.21783	N	1.24	0.30952	L	0.02	0.62318	T	.	.	.	0.039	0.01274	-1.0309	0.20163	T	0.105	0.38489	T	10	0.08760473	0.15005	T	0.372909	0.92790	D	.	.	.	.	0.285316908763	0.28143	0.26319556358963825	0.26232	0.88397339587	0.69886	0.849152624607	0.89486	D	0.013872	0.11917	T	-0.181387	0.23530	T	-0.498327	0.22522	T	0.279888689517975	0.24167	T	0.546745	0.18722	T	0.09913007	0.23390	0.14552008	0.34510	0.09913007	0.23390	0.14552008	0.34509	-5.253	0.39476	T	.	.	0.096	0.15251	B	.	.	3.398596	0.47086	22.4	0.98439631819654994	0.41497	0.56428	0.30115	D	AEFDBHCIJ	0.162927	0.28915	N	-0.673831960745651	0.16769	0.8573175	-0.585302514790341	0.19876	1.068381	0.999998941336965	0.74766	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.581474	0.35302	0	.	.	3.7	1.09	0.19517	0.619000	0.24083	6.597000	0.56044	0.516000	0.23499	0.144000	0.23566	1.000000	0.68203	0.855000	0.40485	0.1092:0.2125:0.6783:0.0	8.890	0.34585	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	30.43	30	chr19	34482617	.	G	T	30.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.73;DP=208;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=0.398;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,2:16:42:0|1:34482606_G_T:42,0,532:34482606	9	0	1	0
chr19	35940216	35940216	C	T	exonic	LRFN3	.	nonsynonymous SNV	LRFN3:NM_024509:exon2:c.C791T:p.A264V	.	427	1039	54	2	0	58	0.0271536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0007	0.00239617	0.0025	0.0001	0.0007	0	0	0.0012	0.0075	0.0117	0.0020375	315	154602	rs150434674	0.0016	0.0016	0.0013	0.0019	0.0184	0.0016	0.0015	0.0155	0.0145	0.0002	0.0009	0.0025	0.0001	2.062e-05	0.0184	0.0009	0.0019	0.0114	0.0010	0.0010	0.0008	0.0012	0.0087	0.0009	0.0008	0.0066	0.0059	0.0003	0	0.0006	0.0020	0	9.413e-05	0.0306	0.0010	0.0028	0.0087	0.14	0.25664	T	0.232	0.24987	T	0.089	0.25085	B	0.018	0.18489	B	0.005369	0.32858	N	0.000000	0.90302	0.36218	D	-0.805	0.01590	N	0.74	0.50459	T	-0.73	0.20576	N	0.414	0.45426	-1.0263	0.21658	T	0.074	0.29928	T	10	0.009973824	0.00223	T	.	.	.	0.027	0.05988	.	.	0.278043722374	0.27408	0.3785036988860858	0.37765	0.772160025859	0.64823	0.664005935192	0.61982	T	0.010888	0.09781	T	-0.522562	0.00425	T	-0.513012	0.21006	T	0.0113585220233361	0.00169	T	0.838916	0.51225	T	0.10931355	0.25844	0.10662158	0.25653	0.10931355	0.25844	0.10662158	0.25652	-7.651	0.58666	D	.	.	0.270	0.50370	B	.;.	.;.	2.410331	0.30976	18.60	0.9962837130970269	0.75898	0.97765	0.76970	D	AEFDBI	0.512208	0.54052	D	-0.31305055587487	0.28652	1.582126	-0.128854334573934	0.34232	1.966829	0.999409230194575	0.39524	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.72	4.72	0.59248	3.092000	0.49904	5.921000	0.51166	0.549000	0.26987	0.988000	0.36536	1.000000	0.68203	0.640000	0.32422	0.0:1.0:0.0:0.0	15.170	0.72544	792	0.45996	Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, 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	0.013105	0.000000	0.005435	0.046784	0.000000	0.017544	0.018405	0.000000	0.05	1699.43	36	chr19	35940216	.	C	T	1699.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=1.09;SOR=0.743	GT:AD:DP:GQ:PL	0/1:65,64:129:99:1711,0,1574	9	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	1219.23	94	chr19	37887093	.	A	G	1219.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-4.045;DP=912;ExcessHet=2.8389;FS=220.707;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=0.746;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,16:88:99:0|1:37887093_A_G:225,0,2498:37887093	4	0	5	1
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1684.09	82	chr19	37887095	.	C	T	1684.09	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.008;DP=898;ExcessHet=4.5998;FS=234.958;InbreedingCoeff=-0.6664;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.77;ReadPosRankSum=0.853;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,16:89:99:0|1:37887093_A_G:223,0,2505:37887093	0	0	6	4
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	.	.	.	.	.	.	.	.	0.3571	1987.18	91	chr19	37887096	.	A	G	1987.18	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.166;DP=879;ExcessHet=2.8389;FS=279.749;InbreedingCoeff=-0.5261;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=0.833;SOR=9.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,16:89:99:0|1:37887093_A_G:223,0,2505:37887093	2	0	5	3
chr19	39734391	39734391	G	C	exonic	CLC	.	nonsynonymous SNV	CLC:NM_001828:exon3:c.C195G:p.N65K	.	432	1068	22	0	0	22	0.0101946	.	.	.	1226484	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.172	.	0.0048	0.0175719	0.0156	0.0016	0.0858	0.0001	0.0212	0.0082	0.0198	0.0108	0.0149545	2312	154602	rs146776010	0.0092	0.0092	0.0095	0.0089	0.0770	0.0091	0.0091	0.0749	0.0740	0.0014	0.0770	0.0080	0.0003	0.0197	0.0064	0.0064	0.0098	0.0114	0.0099	0.0099	0.0089	0.0109	0.0393	0.0095	0.0093	0.0367	0.0357	0.0017	0	0.0393	0.0069	0.0006	0.0275	0	0.0066	0.0104	0.0102	0.015	0.52492	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	3.525	0.93020	H	2.08	0.20255	T	-5.65	0.86988	D	0.274	0.31027	-1.0830	0.06776	T	0.049	0.20829	T	9	0.013160795	0.00280	T	.	.	.	0.172	0.43662	0.944	0.99279	.	.	0.7935249587468006	0.79305	0.572193134915	0.53323	0.513832569122	0.40758	T	0.242098	0.61076	T	-0.442899	0.01243	T	-0.350619	0.39134	T	0.117375244126459	0.14170	T	0.774523	0.40643	T	0.8447447	0.86950	0.6914708	0.81843	0.8447447	0.86952	0.6914708	0.81844	-9.506	0.70896	D	.	.	0.793	0.76947	P	.	.	2.256304	0.28829	17.92	0.98271926166454837	0.39768	0.18700	0.20367	N	AEFBI	0.057236	0.10646	N	0.0414603438479702	0.43750	2.661897	-0.295433822146976	0.28248	1.573534	2.66176801233615E-5	0.03498	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	1.3	1.3	0.20778	1.593000	0.36297	.	.	0.367000	0.20222	0.660000	0.28260	0.083000	0.22416	0.007000	0.07825	0.0:0.0:1.0:0.0	5.870	0.18043	862	0.33134	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition 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	0.007049	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.022727	0.05	2230.43	34	chr19	39734391	.	G	C	2230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.935;DP=629;ExcessHet=0;FS=4.226;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.109;SOR=0.491	GT:AD:DP:GQ:PL	0/1:97,89:186:99:2242,0,2433	9	0	1	0
chr19	39893102	39893102	C	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon14:c.G6265T:p.D2089Y	.	.	.	.	.	.	.	.	.	.	.	2341781	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.314	0.0218388449998	.	.	5.416e-05	0	0.0005	0	0	0	0	0	6.5e-06	1	154602	rs777205080	0.0018	0.0017	0.0019	0.0017	0.0064	0.0017	0.0017	0.0056	0.0052	0.0001	0.0064	0.0008	9.203e-05	0.0005	0	0.0019	0.0012	0.0003	0.0014	0.0019	0.0017	0.0011	0.0038	0.0012	0.0012	0.0030	0.0027	0.0002	0.0148	0.0038	0.0015	0.0002	0	0	0.0017	0.0016	0.0014	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.956106	0.26310	N	.	.	.	.	.	.	.	.	.	.	.	-0.7413	0.58386	T	0.314	0.68379	T	9	0.022603244	0.00569	T	0.021839	0.44662	T	.	.	.	.	0.231873229951	0.22792	.	.	.	.	0.855603575706	0.90458	D	0.210689	0.57125	T	0.0406017	0.57124	T	-0.179455	0.56573	T	0.259375568377271	0.23287	T	0.875013	0.58582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.643	0.70645	P	.	.	3.726654	0.53285	23.3	0.9944077615537259	0.64770	0.39781	0.26290	N	AEFI	0.239127	0.36114	N	0.0984551086942722	0.46391	2.880135	-0.0475550126627741	0.37597	2.203448	6.40343135156876E-5	0.04366	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	2.48	2.48	0.29194	1.046000	0.29964	.	.	0.299000	0.18918	0.440000	0.26487	0.086000	0.22461	0.938000	0.47775	0.0:1.0:0.0:0.0	12.116	0.53167	721	0.55360	von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D 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	.	.	.	.	.	.	.	.	0.05556	77.67	9	chr19	39893102	.	C	A	77.67	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.498;DP=52;ExcessHet=0;FS=7.404;MLEAC=1;MLEAF=0.056;MQ=35.26;MQRankSum=1.25;QD=7.06;ReadPosRankSum=-0.285;SOR=2.8	GT:AD:DP:GQ:PL	0/1:8,3:11:88:88,0,234	8	0	1	1
chr19	40744680	40744680	G	A	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353805:exon4:c.C4T:p.R2W	.	420	1058	41	3	0	47	0.0217291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	.	0.0037	0.00738818	0.0084	0.0005	0.0028	0.0001	0.0028	0.0053	0.0074	0.0413	0.0071603	1107	154602	rs73047039	0.0057	0.0057	0.0046	0.0067	0.0342	0.0056	0.0055	0.0332	0.0328	0.0005	0.0019	0.0123	5.043e-05	0.0021	0.0157	0.0039	0.0061	0.0342	0.0038	0.0038	0.0036	0.0039	0.0325	0.0035	0.0034	0.0284	0.0268	0.0007	0	0.0020	0.0121	0.0002	0.0029	0.0204	0.0040	0.0033	0.0325	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.32	0.36043	-0.9902	0.32551	T	0.090	0.34573	T	7	0.004359305	0.00089	T	.	.	.	.	.	.	.	0.0611884634855	0.05136	.	.	.	.	.	.	.	.	.	.	-0.685291	0.00045	T	-0.731387	0.04265	T	0.0130569372381809	0.00228	T	0.636336	0.25008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.29697	B	.	.	0.138148	0.05325	1.814	0.994728603804239	0.66419	0.01489	0.04946	N	ALL	0.047537	0.08015	N	-1.28611122526482	0.03842	0.1723511	-1.39020398705293	0.03355	0.1563541	0.999999999997689	0.74766	0.839682	0.99964	0	0.643519	0.57511	0	0.736553	0.94036	0	0.699908	0.69081	0	.	.	5.56	-9.34	0.00539	-1.494000	0.02401	.	.	-0.263000	0.06870	0.000000	0.06391	0.000000	0.08366	0.343000	0.25501	0.8088:0.0:0.1912:0.0	19.119	0.93338	493	0.76500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019737	0.015152	0.013587	0.017857	0.000000	0.008621	0.009202	0.049242	0.05	295.43	34	chr19	40744680	.	G	A	295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=354;ExcessHet=0;FS=2.687;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.42;ReadPosRankSum=1.83;SOR=1.074	GT:AD:DP:GQ:PL	0/1:31,15:46:99:307,0,694	9	0	1	0
chr19	40800650	40800650	G	C	exonic	EGLN2	.	nonsynonymous SNV	EGLN2:NM_053046:exon2:c.G78C:p.E26D,EGLN2:NM_080732:exon2:c.G78C:p.E26D	.	417	1085	20	0	0	20	0.00913242	.	.	.	741905	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.025	.	0.0006	0.00399361	0.0028	9.917e-05	0.0004	0.0001	0.0002	0.0008	0.0047	0.0163	0.0024515	379	154602	rs73047080	0.0014	0.0014	0.0010	0.0019	0.0152	0.0014	0.0014	0.0145	0.0142	0.0001	0.0002	0.0043	0	7.512e-05	0.0069	0.0005	0.0017	0.0152	0.0009	0.0009	0.0009	0.0009	0.0147	0.0008	0.0007	0.0120	0.0110	0.0001	0	0.0003	0.0020	0	0	0.0136	0.0006	0.0014	0.0147	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.005365	0.32858	N	0.200262	0.990905	0.24109	N	0.55	0.14455	N	1.94	0.22678	T	-0.13	0.08971	N	0.129	0.12341	-1.0206	0.23519	T	0.026	0.11264	T	7	0.003999889	0.00077	T	.	.	.	0.025	0.05312	0.117	0.02508	0.456647468687	0.45291	0.11087046075374986	0.11016	0.508924225675	0.49035	0.592218577862	0.51808	T	0.261926	0.63345	T	-0.550966	0.00288	T	-0.551227	0.17209	T	0.0171338292415777	0.00458	T	0.469553	0.13966	T	0.10713312	0.25332	0.10244342	0.24554	0.10713312	0.25331	0.10244342	0.24554	-4.025	0.24177	T	.	.	0.116	0.26762	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.216571	0.28284	17.75	0.97879448873417629	0.36594	0.20637	0.21114	N	AEFDBCI	0.101483	0.20381	N	-0.605174886077519	0.18788	0.97824	-0.699690217910423	0.16968	0.9001154	0.999998765061	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	0.046	0.046	0.13572	0.171000	0.16497	.	.	0.171000	0.17763	0.368000	0.25908	0.999000	0.35428	0.907000	0.44265	.	.	.	507	0.75469	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.007576	0.05	920.43	33	chr19	40800650	.	G	C	920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.364;DP=366;ExcessHet=0;FS=1.018;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-1.233;SOR=0.509	GT:AD:DP:GQ:PL	0/1:26,35:61:99:932,0,653	9	0	1	0
chr19	41439476	41439476	T	C	exonic	DMAC2	.	nonsynonymous SNV	DMAC2:NM_001167867:exon1:c.A34G:p.N12D,DMAC2:NM_001167868:exon1:c.A34G:p.N12D,DMAC2:NM_001320839:exon1:c.A34G:p.N12D,DMAC2:NM_001320840:exon1:c.A34G:p.N12D,DMAC2:NM_001320841:exon1:c.A34G:p.N12D	.	411	1100	10	1	0	12	0.00542495	0.0004	0.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00110049937574	0.0020	0.00119808	0.0026	0.0006	0.0098	0	0	0.0039	0	0.0019	0.0006792	105	154602	rs201128960	0.0027	0.0026	0.0026	0.0027	0.0088	0.0026	0.0026	0.0068	0.0062	0.0006	0.0028	0.0061	5.598e-05	0.0004	0.0088	0.0028	0.0035	0.0025	0.0021	0.0021	0.0022	0.0019	0.0031	0.0019	0.0018	0.0028	0.0026	0.0004	0	0.0026	0.0075	0	0	0.0136	0.0031	0.0038	0.0029	0.094	0.31383	T	0.255	0.23365	T	0.038	0.21002	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.23688	T	0.26	0.12099	N	0.102	0.09914	-1.0237	0.22508	T	0.021	0.08824	T	9	0.0041080415	0.00081	T	0.001	0.01312	T	0.015	0.02232	.	.	0.104622674875	0.10061	0.21388719038479934	0.21304	0.19170983959	0.21502	0.315076291561	0.12675	T	.	.	.	-0.618595	0.00112	T	-0.656218	0.08524	T	0.0133141045603256	0.00239	T	0.389061	0.10685	T	.	.	.	.	.	.	.	.	-2.981	0.27910	T	.	.	0.138	0.30157	B	.;.;.	.;.;.	0.274733	0.06519	3.003	0.96524717080362576	0.30129	0.01968	0.05963	N	AEFGBHCIJ	0.064140	0.12438	N	-1.47661935674408	0.02016	0.08858215	-1.58487868797724	0.01748	0.07948693	0.999999981194011	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.39	-4.78	0.02975	-0.503000	0.06464	-1.111000	0.06297	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.2913:0.1899:0.3133:0.2055	0.396	0.00389	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012788	0.029412	0.019231	0.005882	0.000000	0.000000	0.000000	0.012195	0.05	1677.43	38	chr19	41439476	.	T	C	1677.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=451;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.771;SOR=0.797	GT:AD:DP:GQ:PL	0/1:71,66:137:99:1689,0,1767	9	0	1	0
chr19	41715163	41715163	C	T	exonic	CEACAM5	.	nonsynonymous SNV	CEACAM5:NM_001291484:exon3:c.C617T:p.T206I,CEACAM5:NM_001308398:exon3:c.C617T:p.T206I,CEACAM5:NM_004363:exon3:c.C617T:p.T206I	.	7	1513	2	0	0	2	0.000660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00119498654094	.	.	4.942e-05	0	0	0	0	5.993e-05	0	0.0001	4.53e-05	7	154602	rs782198510	5.472e-05	5.472e-05	5.717e-05	5.225e-05	0.0012	4.476e-05	4.147e-05	0.0006	0.0004	2.987e-05	8.944e-05	0	0.0001	0	0.0012	4.406e-05	0.0001	9.275e-05	4.596e-05	4.593e-05	6.424e-05	2.685e-05	5.88e-05	2.108e-05	1.526e-05	1.972e-05	1.124e-05	2.407e-05	0	0	0	0	0	0.0034	5.88e-05	0.0005	0	0.006	0.61437	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.79	0.03809	T	-4.52	0.78302	D	0.376	0.43417	-1.0862	0.06191	T	0.058	0.24354	T	9	0.3596049	0.52625	T	0.001195	0.01533	T	0.021	0.04004	.	.	0.388970301349	0.38507	0.262803268130882	0.26193	0.801649802431	0.66281	0.387098252773	0.23260	T	0.102539	0.41036	T	-0.401326	0.02270	T	-0.577585	0.14760	T	0.140527382493019	0.16321	T	0.59464	0.22023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.46700	B	.;.;.;.	.;.;.;.	1.325098	0.17300	13.08	0.96606472345298833	0.30427	0.01019	0.03833	N	AEFDBI	0.045837	0.07542	N	-0.556884873533913	0.20269	1.067243	-0.798221193485567	0.14539	0.7601626	1.22992125199492E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.94	0.549	0.16403	0.575000	0.23431	-2.299000	0.03932	0.444000	0.21144	0.040000	0.20979	0.000000	0.08366	0.003000	0.05239	0.0:0.6319:0.2262:0.1419	4.563	0.11567	840	0.37365	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	4096.43	33	chr19	41715163	.	C	T	4096.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.169;DP=622;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.508;SOR=0.717	GT:AD:DP:GQ:PL	0/1:153,155:308:99:4108,0,3864	9	0	1	0
chr19	41838976	41838976	G	A	exonic	LYPD4	.	nonsynonymous SNV	LYPD4:NM_173506:exon3:c.C116T:p.A39V	.	431	1070	20	1	0	22	0.0101758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	7.7e-05	0.00419329	0.0045	0.0002	0.0002	0.0003	0	0.0002	0.0011	0.0321	0.0038292	592	154602	rs202011969	0.0020	0.0020	0.0012	0.0029	0.0306	0.0020	0.0020	0.0296	0.0292	5.974e-05	0.0001	0	7.557e-05	1.876e-05	0.0052	0.0002	0.0023	0.0306	0.0012	0.0012	0.0006	0.0018	0.0328	0.0010	0.0010	0.0286	0.0270	7.236e-05	0	6.549e-05	0	0.0004	0	0.0102	0.0001	0.0019	0.0328	.	.	.	0.0	0.92824	D	0.884	0.48618	P	0.268	0.39801	B	0.011196	0.29626	N	0.158192	0.999997	0.58761	D	2.35	0.67516	M	.	.	.	.	.	.	0.515	0.54584	-1.0003	0.29831	T	0.019	0.07753	T	10	0.008364201	0.00190	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.19926414201924622	0.19843	.	.	0.547485947609	0.45503	T	0.01609	0.13370	T	-0.389767	0.02700	T	-0.308965	0.43769	T	0.0276001529773976	0.01631	T	0.549145	0.18877	T	0.02735461	0.01916	0.098622054	0.23520	0.02735461	0.01916	0.098622054	0.23519	-4.139	0.25863	T	.	.	0.505	0.64803	A	.	.	2.269414	0.29007	17.98	0.98122709793049778	0.38448	0.47354	0.27964	N	AEFBCI	0.063194	0.12195	N	-0.2488027782671	0.31151	1.743895	-0.319272301007583	0.27476	1.524913	0.0271449519002789	0.13756	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.91	1.65	0.23015	2.281000	0.43113	2.360000	0.32366	-0.165000	0.11486	0.994000	0.38300	0.996000	0.32793	0.189000	0.21571	0.0:0.403:0.597:0.0	10.029	0.41260	754	0.51307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.005051	0.000000	0.005848	0.000000	0.000000	0.003049	0.018939	0.05	1790.43	33	chr19	41838976	.	G	A	1790.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.067;DP=694;ExcessHet=0;FS=1.5;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=1.27;SOR=0.52	GT:AD:DP:GQ:PL	0/1:49,69:118:99:1802,0,1180	9	0	1	0
chr19	43195052	43195052	C	A	exonic	PSG4	.	stopgain	PSG4:NM_001276495:exon3:c.G652T:p.E218X,PSG4:NM_001316339:exon3:c.G565T:p.E189X,PSG4:NM_002780:exon4:c.G931T:p.E311X	.	14	1445	63	0	0	63	0.0213342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00439297	0.0054	9.628e-05	0.0013	0.0001	0.0012	0.0033	0.0055	0.0246	0.0047606	736	154602	rs147584129	0.0038	0.0038	0.0031	0.0045	0.0246	0.0037	0.0037	0.0237	0.0234	0.0004	0.0017	0.0092	0.0001	0.0007	0.0154	0.0024	0.0042	0.0246	0.0024	0.0025	0.0020	0.0029	0.0235	0.0022	0.0021	0.0200	0.0187	0.0005	0	0.0016	0.0076	0.0004	0.0006	0.0034	0.0025	0.0033	0.0235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.053	0.02462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00454612	0.51026	T	0.238947	0.85101	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;.	High;.;.	6.631227	0.95511	35	0.98047665674102158	0.37843	0.02893	0.07682	N	AEFI	0.065985	0.12899	N	0.0948068697086606	0.46220	2.865795	-0.329135309425047	0.27162	1.505306	3.08458017946517E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.45	1.45	0.21708	0.768000	0.26252	.	.	-0.748000	0.03609	0.084000	0.22438	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	6.272	0.20167	814	0.42100	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018605	0.013699	0.010929	0.034483	0.000000	0.000000	0.025000	0.032787	0.15	7772.45	262	chr19	43195052	.	C	A	7772.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.64;DP=1055;ExcessHet=0.7463;FS=1.745;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=54.21;MQRankSum=-8.608;QD=10.09;ReadPosRankSum=1.2;SOR=0.591	GT:AD:DP:GQ:PL	0/1:143,106:249:99:2380,0,3691	7	0	3	0
chr19	43497792	43497792	G	A	exonic	PHLDB3	.	stopgain	PHLDB3:NM_198850:exon5:c.C619T:p.Q207X	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0003	0	0	0	0	0	0	0.0009	0.00011	17	154602	rs563015561	8.83e-05	8.824e-05	5.625e-05	0.0001	0.0012	7.504e-05	7.075e-05	0.0009	0.0008	0	2.772e-05	0	0	0	0.0012	2.588e-05	0.0001	0.0010	6.566e-05	6.562e-05	3.854e-05	9.399e-05	0.0010	3.514e-05	2.614e-05	0.0004	0.0003	0	0	6.54e-05	0	0	0	0	5.88e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000034	0.55875	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.132	0.12770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220907	0.75862	D	0.452991	0.93651	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.808236	0.98051	38	0.99773129263003846	0.86088	0.58017	0.30529	D	AEFBI	0.037392	0.05136	N	0.651246397598985	0.76450	6.488681	0.444715919746618	0.64377	4.691608	0.0297200218086353	0.13902	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.26	3.15	0.35301	2.612000	0.46007	.	.	0.607000	0.46521	0.992000	0.37556	1.000000	0.68203	0.848000	0.40082	0.0:0.0:0.7989:0.2011	9.982	0.40988	889	0.27310	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	826.43	40	chr19	43497792	.	G	A	826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.266;DP=448;ExcessHet=0;FS=2.646;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=1.49;SOR=0.906	GT:AD:DP:GQ:PL	0/1:60,41:101:99:838,0,1462	9	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	0.05	4649.43	39	chr19	44081096	.	T	C	4649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.51;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.842;SOR=0.674	GT:AD:DP:GQ:PL	0/1:154,168:322:99:4661,0,3826	9	0	1	0
chr19	46782545	46782545	G	C	exonic	SLC1A5	.	nonsynonymous SNV	SLC1A5:NM_001145145:exon3:c.C56G:p.P19R,SLC1A5:NM_005628:exon4:c.C662G:p.P221R	.	427	1092	3	0	0	3	0.00137174	.	.	.	3214267	SLC1A5-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.255	0.0768672815685	0.0022	0.000998403	0.0020	0.0006	0.0010	0	0.0002	0.0027	0.0022	0.0029	0.0021022	325	154602	rs140908383	0.0027	0.0027	0.0027	0.0027	0.0031	0.0026	0.0026	0.0031	0.0030	0.0002	0.0006	3.826e-05	0	0.0005	0.0026	0.0031	0.0019	0.0031	0.0018	0.0019	0.0019	0.0018	0.0031	0.0017	0.0016	0.0027	0.0026	0.0007	0	0.0015	0	0.0002	0.0003	0	0.0031	0.0024	0.0023	0.05	0.39575	D	0.057	0.46406	T	0.031	0.20130	B	0.114	0.31755	B	.	.	.	.	0.700633	0.81001	D	2.135	0.59519	M	0.58	0.71543	T	-5.12	0.86073	D	0.719	0.87157	-0.9299	0.44153	T	0.159	0.49296	T	9	0.050892085	0.04889	T	0.076867	0.72635	D	0.255	0.56562	.	.	0.866366014938	0.86506	0.8064361160471855	0.80598	0.685980076296	0.60309	0.549354553223	0.45767	T	0.395609	0.75445	T	-0.234837	0.16013	T	-0.107769	0.62789	T	0.133869610420539	0.15735	T	0.777022	0.40965	T	0.18600923	0.39990	0.23905762	0.49245	0.18600923	0.39989	0.23905762	0.49244	-4.254	0.40425	T	.	.	0.129	0.56933	B	.;.;.	.;.;.	2.537396	0.32816	19.16	0.95137448044191542	0.26256	0.98593	0.84474	D	AEFBHCI	0.892414	0.82932	D	-0.369517364913626	0.26561	1.450529	-0.3600786081502	0.26198	1.445537	0.999999989571933	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	4.77	2.6	0.30173	7.584000	0.81862	4.807000	0.45013	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0827:0.0:0.7642:0.1531	8.546	0.32580	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	.	.	.	.	.	.	.	.	0.1	1891.14	89	chr19	46782545	.	G	C	1891.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.348;DP=456;ExcessHet=0.2348;FS=4.732;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.127;SOR=1.101	GT:AD:DP:GQ:PL	0/1:43,39:82:99:848,0,1044	8	0	2	0
chr19	47041046	47041046	C	T	exonic	NPAS1	.	nonsynonymous SNV	NPAS1:NM_001321086:exon6:c.C563T:p.A188V	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0130399152142	.	.	0.0001	0	0	0	0.0009	0.0002	0	0	7.76e-05	12	154602	rs758940170	7.39e-05	7.867e-05	6.78e-05	8.01e-05	0.0009	6.231e-05	5.809e-05	0.0003	0.0002	0	0	0	0	0.0006	0.0009	5.723e-05	8.423e-05	6.131e-05	0.0001	0.0001	8.994e-05	0.0001	8.821e-05	6.514e-05	5.325e-05	3.762e-05	2.575e-05	0	0	0	0	0	0.0008	0.0032	8.821e-05	0.0005	0	0.538	0.06847	T	0.54	0.09760	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.92	0.44461	T	0.34	0.03824	N	0.27	0.30574	-1.0324	0.19681	T	0.057	0.23980	T	8	0.027771652	0.00918	T	0.01304	0.32127	T	0.063	0.18251	0.29	0.25081	0.425142668821	0.42132	.	.	.	.	.	.	.	.	.	.	-0.183067	0.23281	T	-0.375596	0.36237	T	0.0204383887940936	0.00744	T	0.305869	0.05863	T	.	.	.	.	.	.	.	.	-4.225	0.27112	T	.	.	0.138	0.32969	B	.;.	.;.	1.136714	0.15237	11.70	0.95869146670694583	0.28041	0.81866	0.41186	D	AEFBHCI	0.103743	0.20776	N	-0.61421798050443	0.18516	0.9619678	-0.490616327307722	0.22411	1.217114	0.996171598466527	0.34572	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.613276	0.41899	0	.	.	5.03	3.99	0.45527	1.104000	0.30687	2.587000	0.33447	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.9042:0.0:0.0958	9.901	0.40518	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	.	.	.	.	.	.	.	.	0.05	994.43	34	chr19	47041046	.	C	T	994.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.464;DP=388;ExcessHet=0;FS=1.81;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.866;SOR=0.929	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1006,0,928	9	0	1	0
chr19	48123309	48123309	G	A	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon20:c.C1810T:p.R604C,LIG1:NM_001289063:exon21:c.C1921T:p.R641C,LIG1:NM_001320971:exon21:c.C1924T:p.R642C,LIG1:NM_000234:exon22:c.C2014T:p.R672C,LIG1:NM_001320970:exon22:c.C2011T:p.R671C	DNA ligase I deficiency (3)	422	1099	1	0	0	1	0.000454752	.	.	.	1347348	not_provided|Immunodeficiency_96	MedGen:C3661900|MONDO:MONDO:0030693,MedGen:C5676930,OMIM:619774	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.598	0.0969984534884	0.0005	0.000199681	0.0002	9.897e-05	0	0	0.0002	0.0003	0	0.0001	0.0001876	29	154602	rs55950593	0.0003	0.0003	0.0003	0.0002	0.0007	0.0002	0.0002	0.0003	0.0003	5.974e-05	2.236e-05	0	5.038e-05	1.894e-05	0.0007	0.0003	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.535e-05	0	0	0	0.0034	0.0004	0.0014	0	0.002	0.72154	D	0.01	0.70582	D	0.999	0.90584	D	0.893	0.65739	P	0.000002	0.62929	D	0.060149	1	0.81001	D	3.555	0.93317	H	-1.53	0.81559	D	-5.92	0.88963	D	0.546	0.58629	0.482	0.90296	D	0.679	0.88903	D	10	0.50501317	0.61767	D	0.096998	0.76699	D	0.598	0.84074	.	.	0.846800510397	0.84533	0.3703831264285899	0.36952	1.08646876882	0.77298	0.604157567024	0.53492	T	0.748744	0.93098	D	0.0191525	0.54267	T	0.0986023	0.76816	D	0.913288116455078	0.56950	D	0.977202	0.93576	D	0.7803998	0.82678	0.5671814	0.74945	0.7803998	0.82680	0.5671814	0.74945	-10.951	0.81027	D	.	.	0.124	0.29200	B	.;.;.;.	.;.;.;.	5.628418	0.92656	32	0.99943225451266759	0.99848	0.89343	0.49750	D	AEFBI	0.403335	0.47706	N	0.696412663512058	0.79398	7.069019	0.60249595135458	0.75120	6.254853	0.999978676157658	0.50053	0.730579	0.87903	0	0.702456	0.74545	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	5.06	5.06	0.67838	3.495000	0.53043	9.619000	0.81102	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8196:0.1804	11.423	0.49239	846	0.36215	DNA ligase, ATP-dependent, central|DNA ligase, ATP-dependent, central;DNA ligase, ATP-dependent, central|DNA ligase, ATP-dependent, central;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	545.43	33	chr19	48123309	.	G	A	545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.854;DP=360;ExcessHet=0;FS=2.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.5;SOR=0.357	GT:AD:DP:GQ:PL	0/1:24,23:47:99:557,0,715	9	0	1	0
chr19	48922390	48922390	G	A	exonic	NUCB1	.	nonsynonymous SNV	NUCB1:NM_006184:exon13:c.G1352A:p.R451Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00227274376151	7.7e-05	.	8.243e-06	9.619e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs372475843	4.789e-06	4.788e-06	5.446e-06	4.126e-06	4.474e-05	1.99e-06	1.28e-06	7.42e-06	2.77e-06	2.987e-05	4.474e-05	0	0	0	0	2.698e-06	0	1.159e-05	1.315e-05	1.314e-05	0	2.693e-05	2.416e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	0	0	0	0	0	1.471e-05	0	0	1.0	0.00964	T	0.632	0.07150	T	0.0	0.02946	B	0.0	0.01387	B	0.637683	0.10628	N	0.826076	1	0.08975	N	-1.245	0.00777	N	2.37	0.15964	T	1.07	0.01280	N	0.082	0.17278	-0.9520	0.40625	T	0.013	0.05225	T	10	0.029623121	0.01089	T	0.002273	0.04342	T	0.016	0.02506	.	.	0.151104730317	0.14643	0.04406923822741117	0.04350	0.324208047398	0.34584	0.251807779074	0.03961	T	0.076325	0.35392	T	-0.579659	0.00194	T	-0.790982	0.02138	T	0.00585613073548723	0.00064	T	0.468753	0.13831	T	0.010430109	0.00007	0.020544218	0.00142	0.010430109	0.00007	0.020544218	0.00142	-2.975	0.09914	T	.	.	0.053	0.00274	B	.;.	.;.	-0.001793	0.04269	1.064	0.52787274488535774	0.04814	0.00311	0.01644	N	AEFDBI	0.081665	0.16527	N	-1.59171622418934	0.01306	0.05688611	-1.57356073326375	0.01819	0.08283093	0.021080060761488	0.13317	0.732398	0.92422	0	0.643519	0.57511	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	3.5	-0.419	0.11725	-0.183000	0.09707	2.528000	0.33154	-0.991000	0.01849	0.000000	0.06391	1.000000	0.68203	0.025000	0.12405	0.4842:0.3982:0.1176:0.0	4.418	0.10895	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1220.43	37	chr19	48922390	.	G	A	1220.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.264;DP=455;ExcessHet=0;FS=1.395;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0.387;SOR=0.839	GT:AD:DP:GQ:PL	0/1:69,59:128:99:1232,0,1566	9	0	1	0
chr19	49596837	49596837	-	CCACCT	exonic	PRR12	.	nonframeshift insertion	PRR12:NM_020719:exon4:c.2502_2503insCCACCT:p.P845_M846insPP	.	370	1149	2	0	1	3	0.000869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.112e-05	0	0	0	0	4.436e-05	0	0.0002	3.84e-05	1	26028	rs778541464	8.058e-05	8.218e-05	7.33e-05	8.794e-05	0.0004	6.838e-05	6.364e-05	0.0003	0.0002	0	0	0	0	0	0	7.044e-05	0.0001	0.0004	3.958e-05	3.944e-05	5.156e-05	2.702e-05	0.0004	1.721e-05	1.133e-05	7.327e-05	3.042e-05	0	0	0	0	0	0	0	5.894e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	822.39	37	chr19	49596837	.	G	GCCACCT	822.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.35;DP=356;ExcessHet=0;FS=1.172;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.69;ReadPosRankSum=-1.068;SOR=0.748	GT:AD:DP:GQ:PL	0/1:22,22:44:99:834,0,824	9	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC:p.K415Sfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779596445	0.0025	0.0048	0.0023	0.0026	0.0055	0.0024	0.0024	0.0049	0.0047	0.0026	0.0023	0.0064	0.0055	0.0054	0.0049	0.0021	0.0039	0.0011	0.0043	0.0060	0.0044	0.0042	0.0054	0.0040	0.0039	0.0044	0.0042	0.0032	0.0046	0.0037	0.0089	0.0041	0.0034	0.0118	0.0048	0.0042	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1305.48	61	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	1305.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=544;ExcessHet=2.8389;FS=106.465;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=59.07;MQRankSum=-3.021;QD=4.14;ReadPosRankSum=-1.312;SOR=7.297	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,8:73:99:1|0:52384795_G_A:140,0,2705:52384795	9	0	1	0
chr19	54155759	54155759	G	A	exonic	LENG1	.	nonsynonymous SNV	LENG1:NM_024316:exon4:c.C757T:p.R253W	.	417	1100	4	1	0	6	0.00271985	.	.	.	3984386	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.371	0.117704580639	.	.	0.0002	0	0.0001	0	0	0.0001	0.0015	0.0004	0.0001035	16	154602	rs777385300	6.039e-05	6.02e-05	6.006e-05	6.072e-05	0.0009	4.977e-05	4.641e-05	0.0004	0.0002	0	6.77e-05	0	0	0	0.0009	3.78e-05	0.0001	0.0004	5.916e-05	5.91e-05	5.14e-05	6.728e-05	0.0001	3.078e-05	2.211e-05	5.845e-05	4.241e-05	0	0	6.545e-05	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999949	0.51968	D	.	.	.	0.33	0.58323	T	-5.92	0.88963	D	0.367	0.40864	-0.7886	0.55811	T	0.198	0.55315	T	10	0.33208445	0.50420	T	0.117705	0.79755	D	0.371	0.69016	.	.	0.747070109847	0.74478	0.4820694658901529	0.48126	0.181823898196	0.20437	0.429835557938	0.29185	T	.	.	.	-0.0657476	0.42004	T	-0.0262417	0.68617	D	0.776181101799011	0.44814	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.45285	B	.	.	4.393390	0.67818	25.1	0.99897115577812612	0.96971	0.88645	0.48671	D	AEFBCI	0.567521	0.57307	D	0.105500638150517	0.46719	2.908028	0.0904711565519992	0.44068	2.695745	0.996197280061498	0.34585	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	4.81	1.34	0.21018	1.701000	0.37444	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0954:0.0:0.5453:0.3593	5.367	0.15423	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	.	.	.	.	.	.	.	.	0.05	817.43	34	chr19	54155759	.	G	A	817.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.827;DP=404;ExcessHet=0;FS=0.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.13;SOR=0.906	GT:AD:DP:GQ:PL	0/1:43,37:80:99:829,0,936	9	0	1	0
chr19	54422281	54422281	C	T	exonic	TTYH1	.	nonsynonymous SNV	TTYH1:NM_001005367:exon4:c.C509T:p.A170V,TTYH1:NM_001201461:exon4:c.C509T:p.A170V,TTYH1:NM_020659:exon4:c.C509T:p.A170V	.	.	.	.	.	.	.	.	.	.	.	4090302	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00613847517154	.	0.000399361	0.0002	0	0	0	0	0	0	0.0006	5.82e-05	9	154602	rs553843392	3.18e-05	3.283e-05	9.781e-06	5.434e-05	0.0005	2.425e-05	2.164e-05	0.0004	0.0003	0	0	0	2.635e-05	0	0	9.187e-07	3.409e-05	0.0005	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.325	0.13699	T	0.82	0.17064	T	0.893	0.77913	P	0.303	0.80445	B	0.000405	0.44736	D	0.147775	0.975241	0.40334	D	1.56	0.39490	L	2.77	0.11407	T	-1.35	0.34795	N	0.337	0.40364	-1.1233	0.02133	T	0.045	0.19194	T	10	0.06457007	0.08582	T	0.006138	0.16082	T	0.083	0.24192	.	.	0.0675242888579	0.06100	0.2429836235133583	0.24212	1.09937565494	0.77680	0.654090762138	0.60568	T	0.178974	0.52981	T	-0.36091	0.04079	T	-0.426198	0.30368	T	0.224110782146454	0.21667	T	0.850515	0.53399	D	0.08514667	0.19738	0.07747801	0.17261	0.08514667	0.19737	0.07747801	0.17261	-6.834	0.53358	T	.	.	0.101	0.32517	B	.;.;.;.	.;.;.;.	3.654389	0.51883	23.2	0.99888544740667817	0.96281	0.49273	0.28396	N	AEFDBHCI	0.306125	0.41336	N	0.171095858414237	0.49815	3.177785	0.2194880180494	0.50928	3.280026	0.999999051840413	0.74766	0.741868	0.97996	0	0.547309	0.14657	0	0.774882	0.98623	0	0.586402	0.36253	0	.	.	5.4	5.4	0.77957	1.872000	0.39185	.	.	0.599000	0.40250	0.941000	0.32681	1.000000	0.68203	0.428000	0.27405	0.0:0.9112:0.0:0.0888	10.495	0.43961	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	.	.	.	.	.	.	.	.	0.05	1350.43	34	chr19	54422281	.	C	T	1350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.87;DP=420;ExcessHet=0;FS=0.788;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.307;SOR=0.841	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1362,0,1105	9	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	5010.71	35	chr19	54739533	.	C	A	5010.71	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.5;DP=3120;ExcessHet=4.5998;FS=1.537;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=55.29;MQRankSum=0.189;QD=2;ReadPosRankSum=1.51;SOR=0.525	GT:AD:DP:GQ:PL	0/1:569,106:675:99:977,0,17372	3	0	6	1
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.35	13352.9	36	chr19	54752378	.	A	T	13352.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.661;DP=2061;ExcessHet=0.0952;FS=1.132;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=54.42;MQRankSum=-18.14;QD=9.48;ReadPosRankSum=2.33;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,176:176:99:5312,528,0	5	2	3	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	15224.9	36	chr19	54752434	.	G	C	15224.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.173;DP=2440;ExcessHet=0.0952;FS=14.799;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=55.51;MQRankSum=-21.06;QD=8.6;ReadPosRankSum=0.272;SOR=1.201	GT:AD:DP:GQ:PL	1/1:0,176:176:99:5223,526,0	5	2	3	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	20676.9	36	chr19	54752445	.	C	T	20676.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.537;DP=2468;ExcessHet=0.0952;FS=18.645;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=55.72;MQRankSum=-21.3;QD=11.38;ReadPosRankSum=-0.49;SOR=1.517	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,175:175:99:1|1:54752445_C_T:7854,527,0:54752445	5	2	3	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	11914.1	36	chr19	54752485	.	T	C	11914.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.66;DP=971;ExcessHet=0;FS=49.012;InbreedingCoeff=0.7333;MLEAC=5;MLEAF=0.25;MQ=50.72;MQRankSum=-17.83;QD=19.86;ReadPosRankSum=-4.048;SOR=2.792	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,121:121:99:1|1:54752482_T_C:5294,364,0:54752482	7	2	1	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	6625.53	36	chr19	54752511	.	G	A	6625.53	.	AC=4;AF=0.2;AN=20;DP=569;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=37.57;QD=24.49;SOR=5.339	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,73:73:99:1|1:54752511_G_A:3231,220,0:54752511	8	2	0	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	6634.15	40	chr19	54760643	.	A	G	6634.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.84;DP=2035;ExcessHet=2.8389;FS=3.768;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=52.78;MQRankSum=-8.43;QD=3.78;ReadPosRankSum=-0.638;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,59:230:99:0|1:54760643_A_G:1963,0,6915:54760643	5	0	5	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	7734.15	40	chr19	54760651	.	G	C	7734.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.862;DP=2076;ExcessHet=2.8389;FS=1.571;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=53.18;MQRankSum=-8.828;QD=4.28;ReadPosRankSum=0.57;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,68:240:99:0|1:54760643_A_G:2338,0,7018:54760643	5	0	5	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9106.15	40	chr19	54760665	.	T	C	9106.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.066;DP=2055;ExcessHet=2.8389;FS=1.509;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=53.84;MQRankSum=-9.565;QD=5.11;ReadPosRankSum=1.84;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,79:252:99:0|1:54760643_A_G:2796,0,7026:54760643	5	0	5	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9167.15	40	chr19	54760676	.	T	A	9167.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.168;DP=2031;ExcessHet=2.8389;FS=1.498;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=54.64;MQRankSum=-10.59;QD=5.2;ReadPosRankSum=3.64;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,79:244:99:0|1:54760643_A_G:2821,0,6691:54760643	5	0	5	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9455.15	40	chr19	54760692	.	A	G	9455.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.915;DP=1868;ExcessHet=2.8389;FS=2.358;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.24;MQRankSum=-11.98;QD=5.68;ReadPosRankSum=4.04;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,79:242:99:0|1:54760643_A_G:2827,0,6579:54760643	5	0	5	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9560.15	40	chr19	54760695	.	T	C	9560.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.898;DP=1846;ExcessHet=2.8389;FS=3.299;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.33;MQRankSum=-12.2;QD=5.86;ReadPosRankSum=3.72;SOR=0.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,79:237:99:0|1:54760643_A_G:2842,0,6369:54760643	5	0	5	0
chr19	54767313	54767313	G	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G992C:p.R331T	.	436	1047	27	12	0	51	0.0237762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4020182	1.906e-05	2.713e-05	2.388e-05	1.419e-05	4.618e-05	1.305e-05	1.119e-05	1.508e-05	1.267e-05	0	4.618e-05	0	0	1.907e-05	0	2.23e-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	.	.	.	.	.	.	.	.	0.05	357.43	39	chr19	54767313	.	G	C	357.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.648;DP=1794;ExcessHet=0;FS=3.495;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.84;MQRankSum=-18;QD=1.1;ReadPosRankSum=-1.492;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,30:326:99:0|1:54767313_G_C:369,0,12318:54767313	9	0	1	0
chr19	54767314	54767314	A	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.A993C:p.R331S	.	437	1046	27	12	0	51	0.0237984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4020183	9.31e-05	0.0054	7.637e-05	0.0001	0.0003	7.988e-05	7.514e-05	0.0002	0.0001	0.0003	0.0003	0.0002	0.0001	0.0001	0.0002	7.38e-05	5.179e-05	0.0001	0.0002	0.0045	0.0002	0.0003	0.0005	0.0002	0.0002	0.0001	9.824e-05	0.0002	0	0.0003	0	0.0002	0	0.0039	0.0002	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	438.43	39	chr19	54767314	.	A	C	438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.711;DP=1796;ExcessHet=0;FS=3.349;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.78;MQRankSum=-18.08;QD=1.33;ReadPosRankSum=-1.309;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,32:329:99:0|1:54767313_G_C:450,0,12350:54767313	9	0	1	0
chr19	54767315	54767315	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G994A:p.V332M	.	436	1047	27	12	0	51	0.0237762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339510286	2.758e-05	0.0016	1.97e-05	3.554e-05	0.0001	2.065e-05	1.813e-05	4.488e-05	2.953e-05	6.119e-05	0.0001	8.191e-05	5.081e-05	1.91e-05	0	1.767e-05	3.428e-05	7.226e-05	0.0001	0.0020	6.973e-05	0.0002	0.0005	7.182e-05	5.784e-05	0.0001	6.24e-05	2.598e-05	0	0.0003	0	0.0002	0	0	0.0001	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	432.43	39	chr19	54767315	.	G	A	432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.422;DP=1794;ExcessHet=0;FS=3.37;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.77;MQRankSum=-18.14;QD=1.31;ReadPosRankSum=-1.137;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,32:331:99:0|1:54767313_G_C:444,0,12402:54767313	9	0	1	0
chr19	54767322	54767322	C	T	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.C1001T:p.T334M	.	436	1034	40	12	0	64	0.0300188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274559595	3.256e-05	0.0020	3.239e-05	3.273e-05	0.0002	2.496e-05	2.232e-05	7.519e-05	5.313e-05	0.0001	0.0002	8.218e-05	0.0001	1.911e-05	0	1.768e-05	3.432e-05	8.472e-05	0.0001	0.0028	8.339e-05	0.0002	0.0004	9.419e-05	7.868e-05	0.0001	9.679e-05	2.591e-05	0	0.0004	0	0.0002	0	0	0.0002	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	.	.	.	.	.	.	.	.	0.1	614.52	39	chr19	54767322	.	C	T	614.52	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.44;DP=2009;ExcessHet=0.2348;FS=2.123;InbreedingCoeff=-0.1055;MLEAC=2;MLEAF=0.1;MQ=58.15;MQRankSum=-17.88;QD=0.75;ReadPosRankSum=-0.902;SOR=1.03	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,36:332:99:0|1:54767313_G_C:621,0,12087:54767313	8	0	2	0
chr19	54767339	54767339	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G1018A:p.E340K	.	437	984	91	10	0	111	0.0533911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372790026	1.835e-05	2.225e-05	2.247e-05	1.418e-05	2.535e-05	1.277e-05	1.085e-05	1.422e-05	1.188e-05	0	0	0	2.535e-05	1.906e-05	0	2.136e-05	1.709e-05	0	6.928e-06	6.727e-06	1.348e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-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	.	.	.	.	.	.	.	.	0.1	699.14	39	chr19	54767339	.	G	A	699.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.396;DP=1980;ExcessHet=0.2348;FS=2.063;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.12;MQRankSum=-17.15;QD=0.88;ReadPosRankSum=1.59;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,35:322:99:0|1:54767339_G_A:606,0,11885:54767339	8	0	2	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	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	.	.	.	.	.	.	.	.	0.1	696.14	39	chr19	54767342	.	T	C	696.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.281;DP=1973;ExcessHet=0.2348;FS=2.075;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.1;MQRankSum=-16.91;QD=0.87;ReadPosRankSum=2.38;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,34:322:99:0|1:54767339_G_A:561,0,11959:54767339	8	0	2	0
chr19	54767349	54767349	C	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon8:c.1028delC:p.S343fs	.	439	964	109	10	0	129	0.0627127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	3.477e-06	1.406e-06	0	2.535e-05	0	0	.	.	0	0	0	2.535e-05	0	0	0	0	0	0	6.726e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	689.1	39	chr19	54767348	.	TC	T	689.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.763;DP=1972;ExcessHet=0.2348;FS=0.992;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.06;MQRankSum=-17.02;QD=0.86;ReadPosRankSum=3.21;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,34:326:99:0|1:54767339_G_A:549,0,12151:54767339	8	0	2	0
chr19	54767352	54767354	AAG	-	exonic	KIR2DL1;LOC112267881	.	nonframeshift deletion	KIR2DL1:NM_014218:exon8:c.1031_1033del:p.344_345del	.	437	959	116	10	0	136	0.0662123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.118e-06	3.477e-06	2.811e-06	1.419e-06	2.535e-05	5.6e-07	1.6e-07	.	.	0	0	0	2.535e-05	0	0	0	1.709e-05	1.198e-05	0	6.715e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	775.1	39	chr19	54767351	.	AAAG	A	775.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.786;DP=1983;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.04;MQRankSum=-16.03;QD=0.97;ReadPosRankSum=3.42;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,37:327:99:0|1:54767339_G_A:620,0,12052:54767339	8	0	2	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	35164.4	39	chr19	54767353	.	A	*	35164.4	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.93;DP=2347;ExcessHet=0.0072;FS=0;InbreedingCoeff=0.5833;MLEAC=2;MLEAF=0.1;MQ=58.93;MQRankSum=-0.302;QD=17.01;ReadPosRankSum=-0.063;SOR=0.734	GT:AD:DP:GQ:PL	0/1:1,37:315:99:8662,7881,11916	8	0	2	0
chr19	54769866	54769866	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon1:c.G16A:p.V6I,KIR2DL1:NM_014218:exon1:c.G16A:p.V6I	.	423	1018	81	0	0	81	0.0382617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0082991101408	.	.	4.241e-05	0.0002	8.884e-05	0	0	3.095e-05	0	0	0.0005692	88	154602	rs375195215	0.0002	0.0019	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0006	0.0009	0.0007	2.545e-05	0.0004	0.0002	0.0002	0.0002	0.0004	0.0005	0.0063	0.0005	0.0005	0.0011	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0004	0	0	0.0005	0	0.0003	0	0.0010	0.112	0.30235	T	0.681	0.10245	T	0.013	0.16609	B	0.009	0.14300	B	.	.	.	.	0.999974	0.81001	N	.	.	.	7.18	0.00438	T	-0.52	0.16393	N	0.078	0.05287	-0.9611	0.38974	T	0.001	0.00287	T	8	0.042778373	0.03059	T	0.008299	0.21979	T	0.017	0.02790	.	.	0.163833314356	0.15978	0.07523266231580931	0.07459	0.258293071172	0.28385	0.446146994829	0.31418	T	0.011846	0.10509	T	-0.454054	0.01069	T	-0.653325	0.08723	T	0.0061362524239717	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.15564	B	.;.	.;.	0.228841	0.06102	2.548	0.76514937681009665	0.11499	0.00123	0.00769	N	AEFBI	0.020265	0.00784	N	-1.40368950837253	0.02606	0.1153194	-1.52506351735761	0.02152	0.098572	2.19688426057424E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	0.514	-1.03	0.09586	0.333000	0.19512	.	.	-1.352000	0.01191	0.021000	0.19753	0.000000	0.08366	0.002000	0.04165	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1066.43	35	chr19	54769866	.	G	A	1066.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.3;DP=1275;ExcessHet=0;FS=5.688;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.92;MQRankSum=-8.711;QD=4.35;ReadPosRankSum=-3.583;SOR=1.133	GT:AD:DP:GQ:PL	0/1:190,55:245:99:1078,0,6777	9	0	1	0
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H,KIR2DL1:NM_014218:exon3:c.G202C:p.D68H,KIR2DS1:NM_014512:exon3:c.G202C:p.D68H,KIR2DS5:NM_014513:exon3:c.G202C:p.D68H	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	4973.14	37	chr19	54773464	.	G	C	4973.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.28;DP=3684;ExcessHet=0.2348;FS=9.291;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.36;MQRankSum=-16.31;QD=3.58;ReadPosRankSum=-0.647;SOR=1.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:591,158:749:99:.:.:3727,0,23238:.	8	0	2	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G,KIR2DL1:NM_014218:exon3:c.C248G:p.A83G,KIR2DS1:NM_014512:exon3:c.C248G:p.A83G,KIR2DS5:NM_014513:exon3:c.C248G:p.A83G	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	8236.14	37	chr19	54773510	.	C	G	8236.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.459;DP=4037;ExcessHet=0.2348;FS=6.633;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.16;MQRankSum=-21.98;QD=5.07;ReadPosRankSum=2.62;SOR=1.172	GT:AD:DP:GQ:PL	0/1:684,214:898:99:5774,0,19844	8	0	2	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K,KIR2DL4:NM_001080772:exon3:c.G227A:p.R76K	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1798.14	34	chr19	54804943	.	G	A	1798.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.49;DP=1166;ExcessHet=0.2348;FS=13.715;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.97;MQRankSum=-13.26;QD=3.51;ReadPosRankSum=-1.927;SOR=1.989	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:201,17:218:48:.:.:48,0,5869:.	8	0	2	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K,KIR2DL4:NM_001080772:exon3:c.C240G:p.N80K	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	2374.45	34	chr19	54804956	.	C	G	2374.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.15;DP=1422;ExcessHet=0.7463;FS=12.453;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.29;MQRankSum=-16.12;QD=2.96;ReadPosRankSum=-2.862;SOR=1.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,20:220:99:0|1:54804956_C_G:238,0,8287:54804956	7	0	3	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I,KIR2DL4:NM_001080772:exon3:c.T244A:p.F82I	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	2530.45	34	chr19	54804960	.	T	A	2530.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.519;DP=1424;ExcessHet=0.7463;FS=17.072;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.32;MQRankSum=-15.73;QD=3.12;ReadPosRankSum=-2.895;SOR=1.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,21:226:99:0|1:54804956_C_G:265,0,8504:54804956	7	0	3	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M,KIR2DL4:NM_001080772:exon3:c.T252G:p.I84M	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	2780.45	34	chr19	54804968	.	T	G	2780.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.13;DP=1435;ExcessHet=0.7463;FS=16.177;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.31;MQRankSum=-15.32;QD=3.4;ReadPosRankSum=-1.498;SOR=1.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,23:225:99:0|1:54804956_C_G:347,0,8392:54804956	7	0	3	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G,KIR2DL4:NM_001080772:exon3:c.A253G:p.S85G	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	2699.45	34	chr19	54804969	.	A	G	2699.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.383;DP=1440;ExcessHet=0.7463;FS=19.076;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.38;MQRankSum=-15.34;QD=3.32;ReadPosRankSum=-1.654;SOR=2.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,21:221:99:0|1:54804956_C_G:269,0,8314:54804956	7	0	3	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	6712.57	34	chr19	54805015	.	T	C	6712.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.265;DP=1562;ExcessHet=1.5895;FS=8.159;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.67;MQRankSum=-11.78;QD=5.8;ReadPosRankSum=1.44;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,33:243:99:0|1:54805010_A_G:754,0,8675:54805010	6	0	4	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	6847.57	34	chr19	54805016	.	T	A	6847.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.245;DP=1562;ExcessHet=1.5895;FS=8.174;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.67;MQRankSum=-11.71;QD=5.92;ReadPosRankSum=1.08;SOR=1.162	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,34:240:99:0|1:54805010_A_G:808,0,8548:54805010	6	0	4	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	7942.57	34	chr19	54805024	.	A	G	7942.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.474;DP=1576;ExcessHet=1.5895;FS=9.137;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.61;MQRankSum=-11.4;QD=6.79;ReadPosRankSum=1.21;SOR=1.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,45:260:99:0|1:54805010_A_G:1194,0,8839:54805010	6	0	4	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	8952.15	34	chr19	54805033	.	C	T	8952.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.399;DP=1643;ExcessHet=2.8389;FS=9.437;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=58.68;MQRankSum=-11.65;QD=6.18;ReadPosRankSum=0.528;SOR=1.101	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,56:271:99:0|1:54805010_A_G:1589,0,8664:54805010	5	0	5	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	7881.15	34	chr19	54805068	.	A	G	7881.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.173;DP=1562;ExcessHet=2.8389;FS=6.858;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=58.36;MQRankSum=-9.918;QD=5.83;ReadPosRankSum=0.563;SOR=0.761	GT:AD:DP:GQ:PL	0/1:204,93:297:99:2274,0,5475	5	0	5	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	9915.15	99	chr19	54805957	.	A	T	9915.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=5.97;DP=1771;ExcessHet=2.8389;FS=3.192;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.95;MQRankSum=-16.36;QD=6.82;ReadPosRankSum=0.635;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,106:346:99:0|1:54805940_TCTC_T:3728,0,9758:54805940	5	0	5	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	10422.2	99	chr19	54805960	.	A	G	10422.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.89;DP=1798;ExcessHet=2.8389;FS=2.226;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.88;MQRankSum=-16.33;QD=7.05;ReadPosRankSum=0.668;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,110:355:99:0|1:54805940_TCTC_T:3881,0,9956:54805940	5	0	5	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14776.2	99	chr19	54805974	.	A	T	14776.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=4.69;DP=2009;ExcessHet=2.8389;FS=0.612;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.95;MQRankSum=-15.55;QD=8.75;ReadPosRankSum=0.322;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:275,158:433:99:0|1:54805940_TCTC_T:5796,0,11072:54805940	5	0	5	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.25	17370.2	99	chr19	54805981	.	G	A	17370.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.4;DP=2150;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.11;MQRankSum=-15.01;QD=9.52;ReadPosRankSum=-0.322;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,185:473:99:0|1:54805940_TCTC_T:6885,0,11475:54805940	5	0	5	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	22716.2	99	chr19	54806034	.	C	A	22716.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.229;DP=2912;ExcessHet=2.8389;FS=3.707;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.45;MQRankSum=-17.44;QD=9.52;ReadPosRankSum=4.68;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:358,213:571:99:0|1:54806034_C_A:7866,0,14310:54806034	5	0	5	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	22899.2	99	chr19	54806035	.	A	G	22899.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.07;DP=2921;ExcessHet=2.8389;FS=4.623;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.42;MQRankSum=-17.54;QD=9.54;ReadPosRankSum=5.03;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:359,214:573:99:0|1:54806034_C_A:7905,0,14349:54806034	5	0	5	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	22299.2	99	chr19	54806051	.	C	G	22299.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.563;DP=2945;ExcessHet=2.8389;FS=4.707;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.54;MQRankSum=-18.03;QD=9.15;ReadPosRankSum=5.19;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:362,214:576:99:0|1:54806034_C_A:7896,0,14556:54806034	5	0	5	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	20457.1	38	chr19	54806072	.	GGA	G	20457.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.688;DP=2835;ExcessHet=2.8389;FS=5.882;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.84;MQRankSum=-17.65;QD=8.45;ReadPosRankSum=2.6;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:350,196:546:99:0|1:54806034_C_A:7176,0,14106:54806034	5	0	5	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	20353.1	38	chr19	54806075	.	A	AGG	20353.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.636;DP=2810;ExcessHet=2.8389;FS=5.92;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.83;MQRankSum=-17.42;QD=8.49;ReadPosRankSum=2.06;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,194:536:99:0|1:54806034_C_A:7117,0,13777:54806034	5	0	5	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	19703.2	38	chr19	54806086	.	T	C	19703.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.793;DP=2800;ExcessHet=2.8389;FS=7.273;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.94;MQRankSum=-17.24;QD=8.27;ReadPosRankSum=-0.791;SOR=1.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:342,187:531:99:.:.:6941,0,13786:.	5	0	5	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	17023.2	38	chr19	54806109	.	A	G	17023.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.044;DP=2734;ExcessHet=2.8389;FS=10.498;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.35;MQRankSum=-16.97;QD=7.33;ReadPosRankSum=-4.427;SOR=1.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,174:530:99:0|1:54806034_C_A:6235,0,14425:54806034	5	0	5	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	9901.57	38	chr19	54806112	.	A	G	9901.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.987;DP=2693;ExcessHet=1.5895;FS=8.425;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=57.15;MQRankSum=-15.74;QD=5.16;ReadPosRankSum=-2.953;SOR=1.43	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:467,56:523:99:.:.:214,0,17912:.	6	0	4	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G,KIR2DL4:NM_001080772:exon4:c.A572G:p.E191G	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2447.14	38	chr19	54806161	.	A	G	2447.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.72;DP=1561;ExcessHet=0.2348;FS=31.76;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.26;MQRankSum=-18.58;QD=3.39;ReadPosRankSum=3.91;SOR=3.185	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,42:348:99:0|1:54806034_C_A:842,0,12722:54806034	8	0	2	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2025.14	38	chr19	54806170	.	G	C	2025.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.49;DP=1537;ExcessHet=0.2348;FS=20.559;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.48;MQRankSum=-18.32;QD=2.91;ReadPosRankSum=2.48;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,36:338:99:0|1:54806034_C_A:603,0,12573:54806034	8	0	2	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L,KIR2DL4:NM_001080772:exon4:c.T595C:p.F199L	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2346.14	38	chr19	54806184	.	T	C	2346.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.35;DP=1535;ExcessHet=0.2348;FS=16.985;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.32;MQRankSum=-18.45;QD=3.38;ReadPosRankSum=-1.215;SOR=2.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,41:343:99:0|1:54806034_C_A:813,0,12558:54806034	8	0	2	0
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E,KIR2DL4:NM_001080772:exon4:c.G602A:p.G201E	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2384.14	38	chr19	54806191	.	G	A	2384.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.486;DP=1537;ExcessHet=0.2348;FS=14.988;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.32;MQRankSum=-18.53;QD=3.42;ReadPosRankSum=-2.326;SOR=2.119	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:305,44:349:99:0|1:54806034_C_A:929,0,12674:54806034	8	0	2	0
chr19	54806230	54806230	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C641T:p.P214L,KIR2DL4:NM_001080772:exon4:c.C641T:p.P214L	.	417	1092	12	1	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000816710685669	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs373028201	1.371e-06	1.505e-05	1.364e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.30943	T	0.751	0.15406	T	0.0	0.02946	B	0.002	0.08700	B	0.008959	0.01224	N	6.106810	1	0.08975	N	-0.34	0.03507	N	2.72	0.11947	T	-2.22	0.56144	N	0.07	0.08227	-0.9609	0.39012	T	0.015	0.05801	T	10	0.024040222	0.00648	T	8.17E-4	0.00670	T	0.014	0.01968	.	.	0.0675242888579	0.06100	0.021072794982650286	0.02060	1.56403758506	0.88076	.	.	.	.	.	.	-0.392352	0.02598	T	-0.801363	0.01868	T	0.0486300559627527	0.05257	T	.	.	.	.	.	.	.	.	.	.	.	-1.357	0.29719	T	.	.	0.072	0.12181	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.620061	0.01518	0.097	0.48884289032456646	0.04116	0.00062	0.00453	N	AEFBI	0.019551	0.00689	N	-2.36564159368528	0.00032	0.001392303	-2.42714203885532	0.00034	0.001497015	0.00765305925471646	0.11515	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	-2.01	0.07003	-0.780000	0.04759	.	.	-3.486000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2225:0.3846:0.0:0.3929	3.217	0.06304	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	595.14	38	chr19	54806230	.	C	T	595.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.47;DP=977;ExcessHet=0.2348;FS=13.849;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.73;MQRankSum=-16.8;QD=0.98;ReadPosRankSum=-2.77;SOR=1.912	GT:AD:DP:GQ:PL	0/1:278,35:313:99:255,0,8000	8	0	2	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13059.2	37	chr19	54808838	.	C	T	13059.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=5.81;DP=2070;ExcessHet=2.8389;FS=3.037;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.16;MQRankSum=-17.43;QD=7.13;ReadPosRankSum=0.745;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,126:423:99:0|1:54808838_C_T:4397,0,12051:54808838	5	0	5	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15064.1	37	chr19	54808850	.	TGG	T	15064.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=4.12;DP=2228;ExcessHet=2.8389;FS=2.1;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.39;MQRankSum=-16.24;QD=7.59;ReadPosRankSum=-0.095;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:320,142:462:99:0|1:54808838_C_T:4999,0,12917:54808838	5	0	5	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15589.1	37	chr19	54808853	.	C	CAT	15589.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.82;DP=2244;ExcessHet=2.8389;FS=1.315;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.46;MQRankSum=-16.1;QD=7.83;ReadPosRankSum=-0.41;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:319,142:461:99:0|1:54808838_C_T:5002,0,12875:54808838	5	0	5	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.25	17966.2	37	chr19	54808875	.	T	C	17966.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.58;DP=2329;ExcessHet=2.8389;FS=1.259;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.6;MQRankSum=-15.46;QD=8.7;ReadPosRankSum=-2.176;SOR=0.677	GT:AD:DP:GQ:PL	0/1:321,163:484:99:5811,0,8170	5	0	5	0
chr19	54829403	54829403	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon7:c.T1043C:p.V348A,KIR3DL1:NM_013289:exon7:c.T1043C:p.V348A	.	465	1015	27	15	0	57	0.0273119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000628392889641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.507e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.088e-06	4.001e-05	1.373e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.135	0.32296	T	0.832	0.06511	T	0.004	0.12183	B	0.007	0.12992	B	0.023237	0.01588	N	3.575530	1	0.08975	N	0.125	0.08623	N	7.44	0.00421	T	-0.82	0.22508	N	0.164	0.17278	-0.9472	0.41448	T	0.001	0.00255	T	10	0.09152645	0.16040	T	6.28E-4	0.00319	T	0.064	0.18567	0.554	0.67133	0.0297737177859	0.01360	0.08161495840610522	0.08096	0.271329387605	0.29656	.	.	.	6.92E-4	0.00312	T	-0.245446	0.14661	T	-0.590343	0.13636	T	0.123887033531142	0.14805	T	.	.	.	0.030742982	0.02791	0.031628843	0.01780	0.030742982	0.02790	0.031628843	0.01780	-4.925	0.37153	T	.	.	0.095	0.25000	B	.;.;.	.;.;.	-0.454121	0.02019	0.180	0.41419724317776613	0.02987	0.00085	0.00571	N	AEFBI	0.023178	0.01257	N	-1.321185949015	0.03433	0.1533551	-1.42447646540238	0.03009	0.1395471	2.30784262624693E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.743	-1.27	0.08863	-0.027000	0.12319	.	.	-2.024000	0.00433	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.4576:0.0:0.5424	3.398	0.06890	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	31.41	137	chr19	54829403	.	T	C	31.41	.	AC=2;AF=0.111;AN=18;DP=715;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=44;QD=31.41;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,1:1:3:1|1:54829403_T_C:45,3,0:54829403	8	1	0	1
chr19	54829426	54829426	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon7:c.C1066T:p.L356F,KIR3DL1:NM_013289:exon7:c.C1066T:p.L356F	.	466	1013	21	22	0	65	0.0310856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.000881710101063	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357591195	2.204e-06	1.333e-05	1.461e-06	2.955e-06	3.075e-05	5.9e-07	1.6e-07	3.2e-07	1.2e-07	3.075e-05	0	0	0	0	0	1.918e-06	0	0	1.419e-05	6.004e-05	0	2.933e-05	3.142e-05	2.36e-06	8.8e-07	5.21e-06	1.95e-06	0	0	0	0	0	0	0	3.142e-05	0	0	0.676	0.15509	T	0.11	0.42261	T	0.083	0.24734	B	0.111	0.31539	B	0.889553	0.08697	U	0.917207	1	0.08975	N	1.91	0.51138	L	6.76	0.00513	T	-0.54	0.24244	N	0.166	0.24634	-0.9058	0.47355	T	0.003	0.00994	T	10	0.0681749	0.09605	T	8.82E-4	0.00800	T	0.030	0.07022	0.46	0.52753	0.0482279557977	0.04254	0.05777243657495314	0.05718	0.251727071068	0.27752	.	.	.	0.005257	0.04708	T	-0.276679	0.11022	T	-0.635207	0.10023	T	0.0421530902385712	0.04083	T	.	.	.	0.031986482	0.03139	0.033634726	0.02292	0.031986482	0.03138	0.033634726	0.02292	-5.291	0.39854	T	.	.	0.086	0.15921	B	.;.;.	.;.;.	0.063715	0.04739	1.367	0.67501303190261086	0.08373	0.00186	0.01083	N	AEFBI	0.030864	0.03186	N	-1.04433514916623	0.07700	0.3585571	-1.23934790095235	0.05291	0.2517261	1.77605386034773E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.743	-0.682	0.10769	-0.511000	0.06404	.	.	-0.952000	0.02027	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.5698:0.4302:0.0	4.367	0.10665	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	31.41	137	chr19	54829426	.	C	T	31.41	.	AC=2;AF=0.111;AN=18;DP=715;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=44;QD=31.41;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,1:1:3:1|1:54829403_T_C:45,3,0:54829403	8	1	0	1
chr19	54829444	54829444	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon7:c.C1084T:p.L362F,KIR3DL1:NM_013289:exon7:c.C1084T:p.L362F	.	469	1016	18	19	0	56	0.0268199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000467105551924	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1379917357	6.623e-06	1.825e-05	7.317e-06	5.921e-06	.	3.12e-06	2.26e-06	.	.	0	0	0	0	0.0002	0	0	0	0	0	5.38e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.003	0.72154	D	0.332	0.18846	T	0.007	0.14184	B	0.003	0.08700	B	0.002088	0.00857	U	899.158000	1	0.08975	N	0	0.06538	N	7.05	0.00452	T	0.04	0.13611	N	0.101	0.08925	-0.9318	0.43874	T	0.001	0.00318	T	10	0.14012018	0.26636	T	4.67E-4	0.00124	T	0.025	0.05312	0.461	0.52916	0.0401082797425	0.02173	0.02443178439583704	0.02394	0.254399891782	0.28010	.	.	.	0.001306	0.00783	T	-0.291158	0.09520	T	-0.656005	0.08539	T	0.147834339200674	0.16930	T	.	.	.	0.04845032	0.08446	0.062126793	0.12107	0.04845032	0.08446	0.062126793	0.12107	-5.453	0.41426	T	.	.	0.083	0.09094	B	.;.;.	.;.;.	0.533017	0.09019	5.799	0.90015249230934702	0.19304	0.00132	0.00814	N	AEFBI	0.028434	0.02505	N	-1.23477188791507	0.04504	0.2034267	-1.33360428072536	0.04003	0.1879124	1.70711295274268E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.743	-0.443	0.11638	-0.028000	0.12299	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.6513:0.0:0.3487	3.121	0.06008	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	31.41	137	chr19	54829444	.	C	T	31.41	.	AC=2;AF=0.111;AN=18;DP=715;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=44;QD=31.41;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,1:1:3:1|1:54829403_T_C:45,3,0:54829403	8	1	0	1
chr19	54829449	54829449	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon7:c.G1089C:p.W363C,KIR3DL1:NM_013289:exon7:c.G1089C:p.W363C	.	469	1016	17	20	0	57	0.0272858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.000494672355364	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435361878	6.636e-06	1.758e-05	7.332e-06	5.932e-06	.	3.12e-06	2.26e-06	.	.	0	0	0	0	0.0002	0	0	0	0	0	4.749e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.012	0.58626	D	0.033	0.54934	D	0.416	0.35222	B	0.325	0.41883	B	0.011943	0.01321	U	3.755810	1	0.08975	N	2.575	0.75298	M	7.13	0.00446	T	-7.6	0.97265	D	0.372	0.41459	-0.9456	0.41715	T	0.005	0.01725	T	10	0.7728967	0.77225	D	4.95E-4	0.00143	T	0.104	0.29647	0.755	0.88484	0.115124310173	0.11017	0.09110718098028447	0.09043	0.378968767957	0.39302	.	.	.	0.036431	0.24100	T	-0.151919	0.28011	T	-0.455998	0.27035	T	0.751542329788208	0.43371	D	.	.	.	0.23327339	0.46129	0.22795105	0.47821	0.23327339	0.46129	0.22795105	0.47820	-6.195	0.49829	T	.	.	0.259	0.51480	B	.;.;.	.;.;.	1.702392	0.21685	15.30	0.76359821396054217	0.11436	0.00692	0.02953	N	AEFBI	0.043777	0.06962	N	-0.378517656521147	0.26237	1.43033	-0.694004366493408	0.17109	0.9083015	2.38927755847897E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.743	0.743	0.17496	0.483000	0.22001	.	.	0.254000	0.18348	0.133000	0.23395	0.000000	0.08366	0.029000	0.12982	0.0:0.0:1.0:0.0	4.835	0.12825	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	31.41	137	chr19	54829449	.	G	C	31.41	.	AC=2;AF=0.111;AN=18;DP=715;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=44;QD=31.41;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,1:1:3:1|1:54829403_T_C:45,3,0:54829403	8	1	0	1
chr19	54830110	54830110	A	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.A1170T:p.E390D,KIR3DL1:NM_013289:exon9:c.A1170T:p.E390D	.	487	1018	4	13	0	30	0.0145208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00295037248364	.	0.000998403	7.89e-05	0.0002	0.0002	0	0	7.895e-05	0	0	0.0001921	5	26028	rs577254016	1.882e-05	0.0015	1.15e-05	2.624e-05	0.0001	1.309e-05	1.112e-05	4.711e-05	3.035e-05	3.065e-05	0.0001	0	2.641e-05	0	0	1.796e-05	0	0	8.649e-05	0.0010	6.973e-05	0.0001	0.0001	4.903e-05	3.833e-05	5.029e-05	3.246e-05	0.0001	0	0.0001	0	0	0.0001	0.0037	3.177e-05	0.0005	0	0.016	0.51853	D	0.452	0.18560	T	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.485	0.37223	L	7.16	0.00448	T	-1.23	0.31981	N	0.044	0.02861	-0.9655	0.38112	T	0.002	0.00497	T	8	0.018143237	0.00392	T	0.00295	0.06280	T	0.025	0.05312	0.321	0.30064	0.233785782151	0.22967	0.08289795060291379	0.08224	0.208071757028	0.23278	.	.	.	0.005634	0.05080	T	-0.276028	0.11093	T	-0.634272	0.10092	T	0.0382154940498127	0.03370	T	.	.	.	0.20277482	0.42333	0.12719326	0.30622	0.20277482	0.42333	0.12719326	0.30622	-6.204	0.49228	T	.	.	0.108	0.27583	B	.;.;.	.;.;.	0.477189	0.08466	5.226	0.92327634821417748	0.21724	0.01652	0.05304	N	AEFBI	0.030493	0.03080	N	-0.939294173757901	0.09934	0.472429	-1.08733637988935	0.07949	0.388757	2.17517074619218E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	0.719	0.17362	0.965000	0.28916	.	.	0.280000	0.18617	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	867.51	36	chr19	54830110	.	A	T	867.51	.	AC=4;AF=0.2;AN=20;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=0.9992;MLEAC=4;MLEAF=0.2;MQ=34.98;QD=34.46;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9:9:27:1|1:54830110_A_T:405,27,0:54830110	8	2	0	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T,KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	4962.53	371	chr19	54830166	.	G	C	4962.53	.	AC=4;AF=0.2;AN=20;DP=1855;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.76;QD=30.62;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,45:45:99:1|1:54830110_A_T:2025,135,0:54830110	8	2	0	0
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C,KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	5187.53	371	chr19	54830177	.	C	T	5187.53	.	AC=4;AF=0.2;AN=20;DP=1860;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.25;QD=27.62;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,48:48:99:1|1:54830110_A_T:2160,144,0:54830110	8	2	0	0
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P,KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	5187.53	371	chr19	54830178	.	G	C	5187.53	.	AC=4;AF=0.2;AN=20;DP=1860;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.25;QD=22.61;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,48:48:99:1|1:54830110_A_T:2160,144,0:54830110	8	2	0	0
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T,KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	5187.53	371	chr19	54830217	.	T	C	5187.53	.	AC=4;AF=0.2;AN=20;DP=1860;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.25;QD=24.46;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,48:48:99:1|1:54830110_A_T:2160,144,0:54830110	8	2	0	0
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M,KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	5051.53	371	chr19	54830219	.	T	A	5051.53	.	AC=4;AF=0.2;AN=20;DP=1857;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.22;QD=31.23;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,48:48:99:1|1:54830110_A_T:2160,144,0:54830110	8	2	0	0
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M,KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	4961.53	371	chr19	54830226	.	C	T	4961.53	.	AC=4;AF=0.2;AN=20;DP=1855;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.38;QD=31.42;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,46:46:99:1|1:54830110_A_T:2070,138,0:54830110	8	2	0	0
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6,KIR3DL1:NM_013289:exon9:c.1313delC:p.S438Ffs*6	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4427.49	371	chr19	54830252	.	TC	T	4427.49	.	AC=4;AF=0.2;AN=20;DP=1844;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=44.19;QD=32.44;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,43:43:99:1|1:54830110_A_T:1935,129,0:54830110	8	2	0	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*,KIR3DL1:NM_013289:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4377.49	371	chr19	54830255	.	AAAG	A	4377.49	.	AC=4;AF=0.2;AN=20;DP=1842;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=44.17;QD=28.75;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,43:43:99:1|1:54830110_A_T:1935,129,0:54830110	8	2	0	0
chr19	54837615	54837615	A	C	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon3:c.A110C:p.H37P,KIR2DS4:NM_001281972:exon3:c.A110C:p.H37P	.	497	1014	4	7	0	18	0.00879765	.	.	.	3393472	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0005	0	0	0.0002	0	0.0002	0	0.0035	0.0004075	63	154602	rs1143507	0.0003	0.0078	0.0002	0.0004	0.0032	0.0003	0.0003	0.0029	0.0028	6.182e-05	9.708e-05	0.0002	0.0001	0.0001	0.0007	0.0001	0.0004	0.0032	0.0006	0.0074	0.0005	0.0006	0.0035	0.0005	0.0004	0.0020	0.0016	0.0009	0	0.0005	0.0007	0	0.0002	0	0.0003	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.004334	0.005155	0.004132	0.004274	0.000000	0.000000	0.000000	0.012097	0.1	178.36	35	chr19	54837615	.	A	C	178.36	.	AC=2;AF=0.1;AN=20;DP=596;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=1;MLEAF=0.05;MQ=36.01;QD=29.73;SOR=3.912	GT:AD:DP:GQ:PL	1/1:0,3:3:9:118,9,0	9	1	0	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13924.2	34	chr19	54855625	.	A	T	13924.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.782;DP=1986;ExcessHet=2.8389;FS=8.748;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.55;MQRankSum=-15.08;QD=7.77;ReadPosRankSum=1.52;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:315,144:459:99:0|1:54855608_TCTC_T:5098,0,12793:54855608	5	0	5	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13459.2	34	chr19	54855628	.	A	G	13459.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.78;DP=1991;ExcessHet=2.8389;FS=8.887;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.62;MQRankSum=-15.1;QD=7.49;ReadPosRankSum=1.58;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:319,140:459:99:0|1:54855608_TCTC_T:4918,0,12966:54855608	5	0	5	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5465.14	34	chr19	54855666	.	CAG	C	5465.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.371;DP=1815;ExcessHet=0.2348;FS=18.008;InbreedingCoeff=-0.113;MLEAC=2;MLEAF=0.1;MQ=57.45;MQRankSum=-17.68;QD=6.46;ReadPosRankSum=-1.523;SOR=1.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:345,91:436:99:0|1:54855666_CAG_C:2762,0,14033:54855666	8	0	2	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5477.14	34	chr19	54855669	.	G	GCA	5477.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.22;DP=1780;ExcessHet=0.2348;FS=18.008;InbreedingCoeff=-0.113;MLEAC=2;MLEAF=0.1;MQ=57.54;MQRankSum=-17.68;QD=6.5;ReadPosRankSum=-1.742;SOR=1.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:341,91:432:99:0|1:54855666_CAG_C:2774,0,13946:54855666	8	0	2	0
chr19	54855702	54855702	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.T739A:p.W247R,KIR3DL2:NM_006737:exon5:c.T739A:p.W247R	.	418	1096	7	0	1	8	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.000513965063079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.844e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.23	0.25827	T	0.0	0.02946	B	0.002	0.06944	B	0.007305	0.01163	N	6.284920	1	0.08975	N	-0.905	0.01334	N	4.12	0.02891	T	2.77	0.00192	N	0.074	0.05287	-0.9554	0.40024	T	0.004	0.01159	T	10	0.0278669	0.00925	T	5.14E-4	0.00163	T	0.006	0.00375	0.383	0.40134	0.148003135375	0.14442	0.03313264070354783	0.03261	2.56269628182	0.97972	0.291219711304	0.09100	T	0.013561	0.11709	T	-0.45857	0.01003	T	-0.896481	0.00528	T	0.0652051243997332	0.07961	T	.	.	.	0.038792573	0.05237	0.03620834	0.03021	0.038792573	0.05237	0.03620834	0.03021	-1.24	0.01520	T	.	.	0.056	0.00444	B	.;.	.;.	-1.017771	0.00746	0.023	0.28703814929394555	0.01487	0.00064	0.00463	N	AEFBI	0.018163	0.00530	N	-2.08547964821295	0.00138	0.005896707	-2.12188863542438	0.00167	0.007337207	3.705165035272E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-1.99	0.07047	-2.672000	0.00915	.	.	-3.099000	0.00124	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4704:0.3018:0.2278	4.218	0.09998	982	0.03397	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	.	.	.	.	.	.	.	.	0.1	1511.14	34	chr19	54855702	.	T	A	1511.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=7;DP=1322;ExcessHet=0.2348;FS=48.567;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.76;MQRankSum=-18.72;QD=1.99;ReadPosRankSum=-4.941;SOR=5.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:333,42:375:99:0|1:54855695_T_C:762,0,13762:54855695	8	0	2	0
chr19	54855712	54855712	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A749T:p.Y250F,KIR3DL2:NM_006737:exon5:c.A749T:p.Y250F	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00162832317537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.011	0.15521	B	0.582363	0.11131	N	0.677554	1	0.08975	N	-0.85	0.01485	N	4.1	0.02944	T	1.46	0.00775	N	0.114	0.12198	-0.9161	0.46076	T	0.003	0.01026	T	10	0.027252734	0.00875	T	0.001628	0.02651	T	0.012	0.01476	0.509	0.60540	0.101711395817	0.09552	0.01728898292730494	0.01683	1.5806642636	0.88385	0.423110246658	0.28265	T	0.012224	0.10783	T	-0.376184	0.03293	T	-0.778139	0.02510	T	0.0609680625727	0.07321	T	.	.	.	0.084882095	0.19667	0.028344387	0.01062	0.084882095	0.19666	0.028344387	0.01062	-0.036	0.00374	T	.	.	0.096	0.15296	B	.;.	.;.	-0.434923	0.02086	0.194	0.28175452013278124	0.01434	0.00020	0.00220	N	AEFBI	0.013809	0.00197	N	-1.90629648151444	0.00333	0.01431343	-1.91087114090788	0.00466	0.02062847	1.66258050066668E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.121	0.12875	-0.128000	0.10508	.	.	-0.281000	0.06419	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3866:0.0:0.0:0.6134	3.114	0.05984	982	0.03397	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	.	.	.	.	.	.	.	.	0.1	455.14	34	chr19	54855712	.	A	T	455.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=8.15;DP=1313;ExcessHet=0.2348;FS=43.825;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.42;MQRankSum=-19.01;QD=0.6;ReadPosRankSum=-4.024;SOR=5.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:336,27:363:99:0|1:54855695_T_C:122,0,14027:54855695	8	0	2	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3569.14	42	chr19	54859084	.	C	T	3569.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.235;DP=1085;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=43.89;MQRankSum=-7.057;QD=4.55;ReadPosRankSum=-1.051;SOR=0.673	GT:AD:DP:GQ:PL	0/1:314,62:376:99:1661,0,8192	8	0	2	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3545.1	42	chr19	54859096	.	TGG	T	3545.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.709;DP=1098;ExcessHet=0.2348;FS=0.72;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=42.67;MQRankSum=-5.643;QD=4.49;ReadPosRankSum=1.42;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:323,62:385:99:0|1:54859096_TGG_T:1631,0,13294:54859096	8	0	2	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3545.1	42	chr19	54859099	.	C	CAT	3545.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.597;DP=1096;ExcessHet=0.2348;FS=0.72;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=42.52;MQRankSum=-5.643;QD=4.49;ReadPosRankSum=1.8;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:323,62:385:99:0|1:54859096_TGG_T:1631,0,13294:54859096	8	0	2	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3103.14	42	chr19	54859126	.	T	A	3103.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.578;DP=1051;ExcessHet=0.2348;FS=0.733;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=41.87;MQRankSum=-3.739;QD=4.17;ReadPosRankSum=5.77;SOR=0.608	GT:AD:DP:GQ:PL	0/1:318,57:375:99:1440,0,8504	8	0	2	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15828.2	34	chr19	54865810	.	T	C	15828.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.521;DP=1456;ExcessHet=2.8389;FS=1.162;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.49;MQRankSum=-9.966;QD=12.94;ReadPosRankSum=1.02;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,131:280:99:0|1:54865794_T_C:5052,0,5862:54865794	5	0	5	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15804.2	34	chr19	54865825	.	G	A	15804.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.712;DP=1509;ExcessHet=2.8389;FS=0.548;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.56;MQRankSum=-10.27;QD=12.39;ReadPosRankSum=1.42;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,136:300:99:0|1:54865794_T_C:5217,0,6477:54865794	5	0	5	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15765.2	34	chr19	54865847	.	T	C	15765.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.92;DP=1527;ExcessHet=2.8389;FS=1.17;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.49;MQRankSum=-10.24;QD=12.22;ReadPosRankSum=-0.054;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,136:303:99:0|1:54865794_T_C:5208,0,6603:54865794	5	0	5	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15501.2	34	chr19	54865852	.	T	A	15501.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.003;DP=1520;ExcessHet=2.8389;FS=1.853;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.54;MQRankSum=-10.09;QD=12.04;ReadPosRankSum=-0.456;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,134:298:99:0|1:54865794_T_C:5133,0,6483:54865794	5	0	5	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14715.2	34	chr19	54865864	.	C	A	14715.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.33;DP=1488;ExcessHet=2.8389;FS=1.176;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.7;MQRankSum=-9.413;QD=11.76;ReadPosRankSum=-0.902;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,130:296:99:0|1:54865794_T_C:4959,0,6579:54865794	5	0	5	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14632.2	34	chr19	54865870	.	C	T	14632.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.51;DP=1465;ExcessHet=2.8389;FS=0.553;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.69;MQRankSum=-9.557;QD=11.88;ReadPosRankSum=-1.277;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,132:299:99:0|1:54865794_T_C:5040,0,6615:54865794	5	0	5	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13373.2	34	chr19	54865885	.	T	C	13373.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.07;DP=1392;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.61;MQRankSum=-9.308;QD=11.56;ReadPosRankSum=-1.506;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:149,122:271:99:.:.:4675,0,5337:.	5	0	5	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13039.2	34	chr19	54865888	.	C	T	13039.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.85;DP=1373;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.58;MQRankSum=-9.099;QD=11.43;ReadPosRankSum=-1.48;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,119:267:99:0|1:54865794_T_C:4526,0,5856:54865794	5	0	5	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	12453.2	34	chr19	54865893	.	G	C	12453.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.03;DP=1329;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.55;MQRankSum=-8.765;QD=11.42;ReadPosRankSum=-1.821;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,112:254:99:0|1:54865794_T_C:4242,0,5601:54865794	5	0	5	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	12846.6	33	chr19	54866420	.	C	G	12846.6	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.779;DP=1543;ExcessHet=1.5895;FS=6.87;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=56.21;MQRankSum=-16.34;QD=10.73;ReadPosRankSum=2;SOR=0.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:231,120:351:99:0|1:54866416_T_C:4343,0,9298:54866416	6	0	4	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D,KIR3DL2:NM_006737:exon9:c.A1170T:p.E390D	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3037.14	33	chr19	54866533	.	A	T	3037.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.496;DP=1938;ExcessHet=0.2348;FS=49.868;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.52;MQRankSum=-21.85;QD=3.08;ReadPosRankSum=0.433;SOR=2.928	GT:AD:DP:GQ:PL	0/1:394,91:485:99:1405,0,11330	8	0	2	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2585.36	73	chr19	55358524	.	C	*	2585.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=1.02;DP=951;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=-1.373;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,90:90:99:.:.:3943,276,0:.	1	8	1	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2730.36	73	chr19	55358535	.	T	*	2730.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=0.818;DP=956;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=0.165;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,90:90:99:.:.:3943,276,0:.	1	8	1	0
chr19	55615050	55615050	G	A	exonic	ZNF865	.	nonsynonymous SNV	ZNF865:NM_001195605:exon2:c.G1432A:p.A478T	.	458	1063	1	0	0	1	0.000470146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068909372648	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs537830532	5.456e-06	4.174e-05	5.251e-06	5.678e-06	0.0001	1.96e-06	1.29e-06	3.494e-05	2.112e-05	0	0	0	0	0	0	1.077e-06	2.34e-05	0.0001	1.996e-05	1.974e-05	1.3e-05	2.726e-05	0.0002	5.31e-06	2.47e-06	.	.	0	0	6.611e-05	0	0	0	0	1.487e-05	0	0.0002	0.373	0.11442	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	3.23	0.06931	T	-0.3	0.11913	N	0.216	0.24135	.	.	.	.	.	.	.	0.045002043	0.03520	T	0.068909	0.70584	D	.	.	.	.	0.348324211639	0.34438	0.3166449970258697	0.31577	.	.	0.814589500427	0.84196	D	0.010889	0.09781	T	-0.310285	0.07722	T	-0.683479	0.06773	T	.	.	.	0.373163	0.08852	T	0.025289046	0.01451	0.040424768	0.04366	0.025289046	0.01451	0.040424768	0.04365	-5.193	0.38871	T	.	.	0.078	0.06942	B	.	.	0.700411	0.10689	7.386	0.93472094106774439	0.23265	0.08115	0.14083	N	AEFDBI	0.017042	0.00421	N	.	.	.	.	.	.	0.0155067361493744	0.12721	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	4.41	-0.511	0.11372	2.485000	0.44909	0.424000	0.18252	-0.242000	0.07441	0.085000	0.22462	0.000000	0.08366	0.088000	0.17685	0.1868:0.1509:0.5076:0.1547	2.389	0.04105	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	103.01	17	chr19	55615050	.	G	A	103.01	.	AC=2;AF=0.1;AN=20;DP=140;ExcessHet=0;FS=0;InbreedingCoeff=0.857;MLEAC=1;MLEAF=0.05;MQ=60;QD=25.75;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:124,12,0	9	1	0	0
chr19	56027629	56027629	G	A	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.G1396A:p.D466N	.	429	1085	8	0	0	8	0.00367309	.	.	.	742126	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.061	0.0150634975102	.	0.000199681	0.0003	0	0	0	0	3.02e-05	0	0.0021	0.0002523	39	154602	rs564724393	0.0002	0.0002	9.669e-05	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	0	3.826e-05	7.557e-05	0	0.0010	2.248e-05	0.0003	0.0024	6.565e-05	6.561e-05	1.285e-05	0.0001	0.0019	3.514e-05	2.614e-05	0.0010	0.0007	0	0	0	0	0	0	0	1.47e-05	0	0.0019	0.523	0.07187	T	0.007	0.69154	D	0.308	0.32740	B	0.044	0.24394	B	0.390255	0.13265	N	0.619175	1	0.08975	N	1.405	0.35469	L	-0.56	0.71187	T	-0.32	0.12283	N	0.243	0.28732	-1.0161	0.24980	T	0.150	0.47717	T	10	0.011842996	0.00257	T	0.015063	0.35570	T	0.061	0.17616	.	.	0.499600832404	0.49597	0.1981575292318437	0.19732	0.0373431891755	0.03961	0.293145656586	0.09382	T	0.048647	0.28079	T	-0.556538	0.00266	T	-0.57868	0.14663	T	0.029054005660662	0.01845	T	0.645335	0.25688	T	0.051006146	0.09301	0.034077313	0.02410	0.051006146	0.09300	0.034077313	0.02409	-3.457	0.15835	T	.	.	0.127	0.26917	B	.;.	.;.	1.616677	0.20655	14.85	0.99583085326899112	0.73159	0.01011	0.03813	N	AEFDBI	0.035793	0.04666	N	-0.819370924252605	0.12815	0.6271583	-0.894638395897221	0.12220	0.6273383	2.14375670872194E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.82	1.77	0.23848	1.831000	0.38781	3.301000	0.37383	0.675000	0.71128	0.012000	0.18695	0.684000	0.26137	0.007000	0.07825	0.1486:0.0:0.8514:0.0	5.889	0.18146	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	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1662.43	139	chr19	56027629	.	G	A	1662.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=917;ExcessHet=0;FS=7.896;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.498;SOR=0.948	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1674,0,1613	9	0	1	0
chr19	56158515	56158515	G	A	exonic	ZNF444	.	nonsynonymous SNV	ZNF444:NM_001253792:exon4:c.G319A:p.G107R,ZNF444:NM_018337:exon4:c.G319A:p.G107R	.	426	1061	35	0	0	35	0.0162262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0067	0.00339457	0.0082	0.0020	0.0049	0	0.0043	0.0115	0.0125	0.0069	0.007943	1228	154602	rs61736532	0.0094	0.0094	0.0095	0.0093	0.0109	0.0093	0.0092	0.0107	0.0107	0.0014	0.0046	0.0007	0	0.0043	0.0096	0.0109	0.0082	0.0066	0.0064	0.0064	0.0069	0.0058	0.0108	0.0060	0.0059	0.0101	0.0099	0.0020	0.0044	0.0029	0.0006	0.0002	0.0030	0	0.0108	0.0095	0.0095	0.697	0.04213	T	0.439	0.13365	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.68	0.05014	T	0.6	0.02518	N	0.128	0.12198	-0.9002	0.47973	T	0.005	0.01542	T	9	0.0043236613	0.00087	T	.	.	.	0.004	0.00165	0.283	0.23961	0.110392049598	0.10638	0.2570395806797124	0.25617	0.937401965757	0.72080	0.565487921238	0.48041	T	0.004692	0.04103	T	-0.724695	0.00026	T	-0.803363	0.01820	T	4.98587724118808e-05	0.00000	T	0.317668	0.06346	T	0.029129205	0.02357	0.04610857	0.06352	0.029129205	0.02357	0.04610857	0.06352	-4.002	0.24177	T	.	.	0.294	0.52524	B	.;.	.;.	-0.074704	0.03794	0.801	0.45673323173144625	0.03602	0.01628	0.05253	N	AEFDBI	0.048564	0.08300	N	-1.46357144132358	0.02112	0.09293035	-1.50598447123722	0.02297	0.1054501	0.0246714341579052	0.13596	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	2.69	-1.29	0.08805	-0.132000	0.10446	.	.	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4134:0.4452:0.1414	5.051	0.13849	928	0.17405	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	0.008065	0.010101	0.006793	0.002924	0.000000	0.008621	0.015337	0.007576	0.05	941.43	36	chr19	56158515	.	G	A	941.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.879;DP=420;ExcessHet=0;FS=3.842;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.04;SOR=0.778	GT:AD:DP:GQ:PL	0/1:57,40:97:99:953,0,1425	9	0	1	0
chr19	57131045	57131045	C	A	exonic	USP29	.	nonsynonymous SNV	USP29:NM_020903:exon4:c.C2370A:p.D790E	.	428	1050	44	0	0	44	0.0205224	.	.	.	2815428	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.209	.	0.0052	0.00459265	0.0059	0.0012	0.0032	0	0.0009	0.0077	0.0056	0.0089	0.0059443	919	154602	rs35394887	0.0070	0.0070	0.0069	0.0071	0.0196	0.0069	0.0068	0.0167	0.0156	0.0013	0.0041	0.0155	2.519e-05	0.0012	0.0196	0.0073	0.0076	0.0096	0.0052	0.0052	0.0055	0.0048	0.0081	0.0049	0.0047	0.0064	0.0062	0.0011	0.0451	0.0068	0.0147	0	0.0009	0.0170	0.0069	0.0085	0.0081	0.089	0.32141	T	0.199	0.27679	T	0.897	0.49385	P	0.498	0.47596	P	.	.	.	.	1	0.08975	N	1.75	0.45442	L	-0.7	0.72785	T	-0.66	0.19085	N	0.017	0.00445	-0.8132	0.54356	T	0.203	0.56045	T	9	0.0063093305	0.00142	T	.	.	.	0.209	0.49871	0.439	0.49321	0.643592481467	0.64065	0.025657874678243223	0.02516	0.163922921691	0.18491	0.342741340399	0.16848	T	0.031903	0.22250	T	-0.587765	0.00173	T	-0.610946	0.11908	T	0.0112532268028135	0.00166	T	0.258674	0.04115	T	0.046043307	0.07641	0.04808295	0.07066	0.046043307	0.07640	0.04808295	0.07066	-2.455	0.05481	T	.	.	0.114	0.22789	B	.;.	.;.	0.128065	0.05241	1.746	0.93809292540599365	0.23783	0.08314	0.14259	N	AEFBI	0.039674	0.05796	N	-0.670287111582421	0.16871	0.8634115	-0.888872341669777	0.12356	0.6351659	2.36954909793107E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.05	-1.45	0.08365	-1.450000	0.02496	.	.	-0.218000	0.08083	0.029000	0.20367	0.000000	0.08366	0.068000	0.16518	0.0:0.5297:0.0:0.4703	5.801	0.17677	952	0.10565	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016113	0.005051	0.017663	0.040936	0.000000	0.025862	0.012195	0.000000	0.1	2787.14	98	chr19	57131045	.	C	A	2787.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.46;DP=895;ExcessHet=0.2348;FS=10.788;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.173;SOR=1.11	GT:AD:DP:GQ:PL	0/1:65,49:114:99:1312,0,1855	8	0	2	0
chr19	57455498	57455498	G	C	exonic	VN1R1	.	nonsynonymous SNV	VN1R1:NM_020633:exon1:c.C989G:p.T330S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00185719441718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.126	0.26920	B	0.044	0.24394	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	3.01	0.09075	T	-1.57	0.37955	N	0.037	0.01135	-0.9435	0.42057	T	0.010	0.03811	T	9	0.037141323	0.02051	T	0.001857	0.03245	T	0.019	0.03383	0.356	0.35734	0.119812018005	0.11559	0.027788584214544124	0.02728	0.0564297188094	0.06233	0.520052194595	0.41634	T	0.006109	0.05549	T	-0.424798	0.01595	T	-0.84797	0.00986	T	0.0496394987449854	0.05437	T	0.348865	0.07732	T	0.08155163	0.18743	0.05191539	0.08450	0.08155163	0.18743	0.05191539	0.08450	-2.721	0.07481	T	.	.	0.112	0.22098	B	.	.	-0.039583	0.04016	0.919	0.15813665621730297	0.00401	0.01566	0.05117	N	AEFBI	0.033459	0.03972	N	-1.54661842337973	0.01554	0.06790209	-1.61617004726267	0.01560	0.07070299	2.30622176197677E-4	0.06048	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.07	-5.31	0.02519	-0.189000	0.09625	.	.	-0.170000	0.11276	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0803:0.3901:0.2843:0.2453	4.032	0.09199	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	60.5	33	chr19	57455498	.	G	C	60.5	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.671;DP=768;ExcessHet=0;FS=263.647;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=2.77;SOR=8.318	GT:AD:DP:GQ:PL	0/1:118,22:153:72:72,0,2632	9	0	1	0
chr19	58562965	58562965	G	C	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_003422:exon6:c.C1312G:p.Q438E,MZF1:NM_198055:exon6:c.C1312G:p.Q438E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0166526145939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.142e-06	4.104e-06	5.496e-06	2.775e-06	5.401e-06	1.49e-06	9.8e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.401e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.019	0.59159	D	0.779	0.44223	P	0.281	0.40336	B	0.002245	0.36929	N	0.000000	0.649555	0.30545	N	0.015	0.07966	N	2.26	0.17596	T	-0.34	0.12661	N	0.254	0.29544	-1.0967	0.04514	T	0.021	0.09056	T	10	0.123583555	0.23461	T	0.016653	0.38007	T	0.050	0.13987	0.35	0.34760	0.494500980894	0.49084	0.12532299617057827	0.12458	0.351201735041	0.36964	0.770335018635	0.77475	T	0.101142	0.40761	T	-0.24823	0.14316	T	-0.594342	0.13292	T	0.518106730616632	0.33296	D	0.310469	0.06031	T	0.12377291	0.29056	0.14509374	0.34425	0.12377291	0.29056	0.14509374	0.34424	-5.064	0.37526	T	.	.	0.190	0.40794	B	.;.	.;.	3.850363	0.55778	23.7	0.98976759904038047	0.49640	0.61424	0.31480	D	AEFDGBHIJ	0.265472	0.38259	N	-0.109516186035965	0.36977	2.144843	-0.060961733911379	0.37019	2.161979	0.999999982634335	0.74766	0.789315	0.99827	0	0.52208	0.09955	0	0.768056	0.98339	0	0.71	0.69187	0	.	.	3.46	3.46	0.38718	0.186000	0.16787	1.013000	0.23346	0.618000	0.50648	0.000000	0.06391	0.147000	0.23145	0.883000	0.42306	0.0:0.0:0.7648:0.2352	8.336	0.31374	952	0.10565	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	.	.	.	.	.	.	.	.	0.1	2360.14	93	chr19	58562965	.	G	C	2360.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.42;DP=456;ExcessHet=0.2348;FS=5.459;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=1.61;SOR=1.094	GT:AD:DP:GQ:PL	0/1:49,32:81:99:876,0,1298	8	0	2	0
chr20	3082760	3082760	C	T	exonic	AVP	.	nonsynonymous SNV	AVP:NM_000490:exon3:c.G365A:p.R122H	Diabetes insipidus, neurohypophyseal, Autosomal dominant	12	1506	4	0	0	4	0.00132626	.	.	.	2137009	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.314	.	.	0.000399361	0.0261	.	0	0	.	0	0	0.0307	0.0001164	18	154602	rs549545938	0.0002	0.0002	0.0001	0.0002	0.0043	0.0001	0.0001	0.0038	0.0035	0	0.0001	0	0	0	0.0003	8.488e-06	0.0004	0.0043	9.233e-05	9.193e-05	6.45e-05	0.0001	0.0021	5.548e-05	4.38e-05	0.0011	0.0009	0	0	0	0	0	0	0	5.904e-05	0	0.0021	0.085	0.32769	T	0.041	0.50514	D	0.997	0.70673	D	0.683	0.53559	P	0.006253	0.32164	N	0.255699	1	0.08975	N	2.215	0.62545	M	-4.25	0.97054	D	-0.49	0.15578	N	0.076	0.05037	0.296	0.87496	D	0.791	0.92917	D	10	0.0065873265	0.00149	T	.	.	.	0.314	0.63588	0.386	0.40624	0.994563733753	0.99450	0.38411864539401724	0.38326	0.68430610145	0.60211	0.732278764248	0.71839	T	0.114361	0.43212	T	-0.20407	0.20219	T	-0.0652299	0.65964	T	0.122880162436963	0.14709	T	0.624837	0.24114	T	0.08540013	0.19808	0.09721158	0.23130	0.07577989	0.17095	0.106729135	0.25680	-5.839	0.44913	T	.	.	0.108	0.20313	B	.	.	3.350368	0.46210	22.3	0.99890620438818334	0.96513	0.15115	0.18752	N	AEFDBHI	0.068088	0.13416	N	-0.311088638870626	0.28726	1.586844	-0.403878540627956	0.24883	1.365146	0.999651936875583	0.41424	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.37	3.39	0.37919	0.296000	0.18839	2.133000	0.30793	0.502000	0.22824	0.001000	0.13787	1.000000	0.68203	0.772000	0.36596	0.1816:0.8184:0.0:0.0	11.464	0.49473	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001555	0.000000	0.000000	0.000000	0.000000	0.014706	0.000000	0.000000	0.1	1366.14	43	chr20	3082760	.	C	T	1366.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.43;DP=287;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=-0.238;SOR=0.793	GT:AD:DP:GQ:PL	0/1:13,22:35:99:574,0,231	8	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	.	.	.	.	.	.	.	.	0.4375	1195.34	115	chr20	3803192	.	G	C	1195.34	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-1.757;DP=1072;ExcessHet=7.0302;FS=201.816;InbreedingCoeff=-0.6709;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.67;SOR=11.816	GT:AD:DP:GQ:PL	0/1:70,38:120:99:207,0,1225	1	0	7	2
chr20	33662388	33662388	C	T	exonic	C20orf144	.	stopgain	C20orf144:NM_080825:exon1:c.C43T:p.Q15X	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.861e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs762770370	3.073e-05	3.147e-05	2.962e-05	3.188e-05	3.614e-05	2.316e-05	2.058e-05	2.706e-05	2.376e-05	0	0	0	0	0	0	3.614e-05	5.171e-05	1.262e-05	1.314e-05	1.313e-05	0	2.689e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.007829	0.31171	N	0.148744	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.153	0.15749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393806	0.89554	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.206167	0.96266	35	0.9973345306644138	0.82975	0.77749	0.38264	D	AEFGBCI	0.131328	0.25022	N	0.924786695227276	0.92919	11.70948	0.726193367980337	0.84367	8.272376	0.999999976881407	0.74766	0.580535	0.33130	0	0.550933	0.16991	0	0.536957	0.11973	0	0.604944	0.38103	0	.	.	5.04	5.04	0.67293	3.824000	0.55423	1.613000	0.27646	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.297000	0.24428	0.0:1.0:0.0:0.0	13.749	0.62374	116	0.95299	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1665.43	33	chr20	33662388	.	C	T	1665.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.57;DP=453;ExcessHet=0;FS=2.998;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.862;SOR=0.92	GT:AD:DP:GQ:PL	0/1:71,70:141:99:1677,0,1719	9	0	1	0
chr20	34742064	34742064	G	A	exonic	NCOA6	.	nonsynonymous SNV	NCOA6:NM_014071:exon11:c.C4192T:p.P1398S,NCOA6:NM_001318240:exon12:c.C4192T:p.P1398S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00472598371558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.546e-05	2.18e-06	8.2e-07	.	.	0	0	6.546e-05	0	0	0	0	0	0.0005	0	0.927	0.02268	T	0.24	0.24406	T	0.0	0.02946	B	0.0	0.01387	B	0.140340	0.18313	N	0.537326	1	0.08975	N	0.14	0.08730	N	1.83	0.24841	T	0.65	0.02332	N	0.06	0.03175	-1.0281	0.21070	T	0.021	0.08686	T	10	0.025263011	0.00726	T	0.004726	0.11753	T	0.045	0.12272	0.188	0.09776	0.134007934775	0.12933	0.24111701487599474	0.24025	0.126821059007	0.14290	0.310003131628	0.11907	T	0.065725	0.32763	T	-0.358457	0.04218	T	-0.752675	0.03383	T	0.032061201700384	0.02316	T	0.686731	0.29555	T	0.02461828	0.01311	0.04105407	0.04580	0.02461828	0.01310	0.04105407	0.04580	-2.846	0.08615	T	.	.	0.067	0.02370	B	.;.	.;.	1.479363	0.19046	14.06	0.70207366691681927	0.09220	0.66717	0.33175	D	AEFBCI	0.072841	0.14549	N	-0.774808360663031	0.13969	0.6921195	-0.597655993652773	0.19553	1.049646	0.00165922759980875	0.08750	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	-0.0461	0.13177	1.192000	0.31759	3.355000	0.37815	-0.185000	0.09859	0.967000	0.34061	1.000000	0.68203	0.989000	0.64315	0.3048:0.1157:0.4103:0.1691	1.223	0.01810	335	0.86220	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2738.43	35	chr20	34742064	.	G	A	2738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.629;DP=515;ExcessHet=0;FS=2.492;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=2.35;SOR=0.759	GT:AD:DP:GQ:PL	0/1:89,102:191:99:2750,0,2464	9	0	1	0
chr20	34742369	34742369	T	C	exonic	NCOA6	.	nonsynonymous SNV	NCOA6:NM_014071:exon11:c.A3887G:p.N1296S,NCOA6:NM_001318240:exon12:c.A3887G:p.N1296S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00367510539099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	0	5.5e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.08634	T	0.897	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.000716	0.42254	N	0.208217	0.88617	0.35853	D	0.22	0.09567	N	1.85	0.24472	T	0.18	0.05035	N	0.101	0.08786	-0.9766	0.35772	T	0.017	0.07092	T	10	0.05152133	0.05046	T	0.003675	0.08464	T	0.066	0.19193	0.25	0.18757	0.171220215726	0.16700	0.22721055605977433	0.22636	0.0985732448278	0.11138	0.368326485157	0.20592	T	0.078844	0.35989	T	-0.367375	0.03729	T	-0.765485	0.02919	T	0.0576223385413272	0.06789	T	0.751425	0.37327	T	0.014709285	0.00104	0.023150122	0.00330	0.014709285	0.00104	0.023150122	0.00330	-2.559	0.06198	T	.	.	0.051	0.00191	B	.;.	.;.	0.494620	0.08635	5.408	0.83826093791380518	0.14941	0.62095	0.31678	D	AEFBCI	0.060297	0.11450	N	-0.753931874591801	0.14526	0.7243557	-0.527336916746407	0.21412	1.15819	0.00266378412040618	0.09616	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.98	0.824	0.17956	0.038000	0.13749	-0.088000	0.12093	-0.163000	0.11536	0.952000	0.33172	0.854000	0.27420	0.996000	0.76049	0.0:0.4221:0.1978:0.3801	4.352	0.10595	335	0.86220	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2676.43	35	chr20	34742369	.	T	C	2676.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.04;DP=502;ExcessHet=0;FS=8.762;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=-0.99;SOR=0.685	GT:AD:DP:GQ:PL	0/1:80,99:179:99:2688,0,2104	9	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	2382.99	178	chr20	34852409	.	G	C	2382.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.363;DP=1624;ExcessHet=10.3881;FS=297.982;InbreedingCoeff=-0.6669;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=1.03;SOR=10.005	GT:AD:DP:GQ:PL	0/1:90,61:156:99:457,0,1328	2	0	8	0
chr20	35176182	35176182	C	T	exonic	PROCR	.	nonsynonymous SNV	PROCR:NM_006404:exon3:c.C337T:p.R113C	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.0622122122142	0.0024	0.000599042	0.0017	0.0003	0.0003	0	0.0021	0.0026	0.0011	0.0004	0.0015718	243	154602	rs146420040	0.0019	0.0019	0.0019	0.0019	0.0023	0.0018	0.0018	0.0022	0.0022	0.0004	0.0008	0.0002	0	0.0014	0.0007	0.0023	0.0015	0.0004	0.0014	0.0014	0.0016	0.0012	0.0025	0.0012	0.0012	0.0022	0.0021	0.0005	0	0.0005	0.0003	0	0.0006	0.0035	0.0025	0.0014	0.0002	0.011	0.55530	D	0.031	0.53788	D	0.998	0.73220	D	0.734	0.55432	P	0.255588	0.15419	N	0.653877	0.998234	0.24467	N	2.425	0.70256	M	-1.68	0.82897	D	-4.49	0.78046	D	0.806	0.80180	-0.3592	0.73287	T	0.483	0.80285	T	10	0.12381315	0.23508	T	0.062212	0.68581	D	0.683	0.88396	.	.	0.88576274008	0.88464	0.673770665950426	0.67315	0.589731283567	0.54461	0.332381784916	0.15294	T	0.321455	0.69255	T	-0.130209	0.31461	T	0.0352608	0.72620	D	0.051731185773291	0.05801	T	0.849215	0.53152	T	0.403985	0.61008	0.24753031	0.50285	0.403985	0.61008	0.24753031	0.50284	-6.077	0.46919	T	.	.	0.217	0.44630	B	.	.	3.873946	0.56256	23.7	0.99877956461658446	0.95491	0.50759	0.28737	D	AEFDBI	0.187621	0.31491	N	0.16863455071315	0.49696	3.167187	0.0684881997569066	0.42976	2.608944	0.0958922438975643	0.16237	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.6	0.951	0.18703	0.181000	0.16691	-0.473000	0.08966	0.589000	0.31548	0.847000	0.30396	0.009000	0.19889	0.994000	0.71098	0.4866:0.3958:0.1175:0.0	8.929	0.34817	415	0.81806	MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.1	1689.14	85	chr20	35176182	.	C	T	1689.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.39;DP=459;ExcessHet=0.2348;FS=2.109;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.556;SOR=0.91	GT:AD:DP:GQ:PL	0/1:35,31:66:99:819,0,865	8	0	2	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G,RALGAPB:NM_001282918:exon4:c.A461G:p.E154G,RALGAPB:NM_020336:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	219.23	35	chr20	38497424	.	A	G	219.23	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.636;DP=796;ExcessHet=0.2348;FS=147.349;InbreedingCoeff=-0.1154;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=-0.324;SOR=10.087	GT:AD:DP:GQ:PL	0/1:94,32:126:99:126,0,1688	8	0	2	0
chr20	39038505	39038505	T	C	exonic	DHX35	.	nonsynonymous SNV	DHX35:NM_001190809:exon21:c.T1981C:p.S661P,DHX35:NM_021931:exon22:c.T2074C:p.S692P	.	427	1069	25	1	0	27	0.0124711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	.	0.0070	0.00758786	0.0092	0.0020	0.0032	0.0002	0.0048	0.0092	0.0056	0.0246	0.0088227	1364	154602	rs146274322	0.0085	0.0085	0.0079	0.0092	0.0229	0.0084	0.0084	0.0221	0.0218	0.0014	0.0036	0.0085	0.0001	0.0060	0.0120	0.0082	0.0088	0.0229	0.0063	0.0063	0.0064	0.0061	0.0225	0.0059	0.0058	0.0191	0.0178	0.0015	0	0.0051	0.0124	0.0002	0.0041	0.0102	0.0089	0.0028	0.0225	0.025	0.48186	D	0.083	0.41405	T	0.915	0.50599	P	0.255	0.39216	B	0.028481	0.25594	N	0.436440	0.999924	0.58761	D	1.875	0.49914	L	4.02	0.32958	T	-0.82	0.34198	N	0.288	0.32591	-1.0733	0.08702	T	0.071	0.28773	T	10	0.0060763657	0.00137	T	.	.	.	0.145	0.38592	.	.	0.519675384768	0.51611	0.44099468402265024	0.44016	0.313503313738	0.33640	0.624079525471	0.56304	T	0.007988	0.07355	T	-0.175356	0.24431	T	-0.00573911	0.69964	D	0.0229375191028442	0.01015	T	0.810219	0.47570	T	0.1994504	0.41885	0.21744236	0.46410	0.1994504	0.41885	0.21744236	0.46409	-4.734	0.33813	T	.	.	0.090	0.43088	B	.;.;.;.	.;.;.;.	3.976553	0.58430	24.0	0.99791260496374268	0.87661	0.96421	0.69056	D	AEFBI	0.670895	0.63782	D	0.426617905938296	0.62889	4.512632	0.482390742663397	0.66825	5.002606	0.999999186857235	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	5.077000	0.64249	7.808000	0.69345	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.0:1.0	13.358	0.60082	927	0.17636	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.008152	0.005848	0.050000	0.008621	0.012195	0.026515	0.05	1131.43	34	chr20	39038505	.	T	C	1131.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.895;SOR=0.668	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1143,0,1245	9	0	1	0
chr20	45876767	45876767	C	T	exonic	ZSWIM3	.	nonsynonymous SNV	ZSWIM3:NM_080752:exon2:c.C209T:p.T70M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00480321930846	.	0.000599042	0.0006	0	0	0	0	1.502e-05	0	0.0043	0.0004851	75	154602	rs573326472	0.0002	0.0002	0.0001	0.0004	0.0038	0.0002	0.0002	0.0035	0.0033	2.987e-05	0	0	0	1.872e-05	0	1.709e-05	0.0002	0.0038	0.0001	0.0001	6.424e-05	0.0002	0.0041	9.741e-05	8.255e-05	0.0027	0.0023	0	0	0	0	0	0	0	2.94e-05	0	0.0041	0.013	0.53900	D	0.055	0.46862	T	0.865	0.47557	P	0.131	0.32951	B	0.299983	0.14615	N	0.671682	1	0.08975	N	2.08	0.57402	M	1.9	0.23486	T	0.05	0.06369	N	0.24	0.27077	-1.0620	0.11263	T	0.033	0.14247	T	10	0.0035443306	0.00064	T	0.004803	0.12004	T	0.007	0.00512	0.245	0.17984	0.141422826196	0.13715	0.4031961276512099	0.40235	0.367479578391	0.38306	0.363446593285	0.19887	T	0.020088	0.15881	T	-0.538321	0.00343	T	-0.546557	0.17658	T	0.0211275144703937	0.00814	T	0.789321	0.42944	T	0.036704864	0.04566	0.053494483	0.09022	0.036704864	0.04565	0.053494483	0.09021	-4.63	0.32546	T	.	.	0.094	0.14385	B	.	.	2.465282	0.31763	18.84	0.99344700346251558	0.60331	0.05434	0.11308	N	AEFBI	0.042960	0.06730	N	-0.533127670415854	0.21016	1.112209	-0.617984099759298	0.19030	1.019303	0.992284832802798	0.32785	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	5.36	2.07	0.26004	0.588000	0.23626	1.369000	0.25941	0.599000	0.40250	0.061000	0.21800	0.325000	0.24344	0.379000	0.26312	0.4467:0.4625:0.0:0.0908	6.316	0.20399	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.1	3786.12	35	chr20	45876767	.	C	T	3786.12	.	AC=2;AF=0.1;AN=20;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.36;SOR=1.417	GT:AD:DP:GQ:PL	1/1:0,117:117:99:3809,351,0	9	1	0	0
chr20	45886756	45886756	G	A	exonic	SPATA25	.	stopgain	SPATA25:NM_080608:exon2:c.C445T:p.Q149X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0002	0	0	0	0	0	0	0.0017	0.000194	30	154602	rs541634704	8.62e-05	8.619e-05	2.995e-05	0.0001	0.0014	7.354e-05	6.904e-05	0.0012	0.0012	0	0	0	0	0	0	0	3.311e-05	0.0014	4.595e-05	4.593e-05	2.569e-05	6.711e-05	0.0014	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	0.000083	0.51296	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.235	0.26475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201729	0.74054	D	0.481615	0.94238	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.672952	0.97867	38	0.99732591896208422	0.82904	0.87940	0.47658	D	AEFDBHCI	0.081015	0.16388	N	1.06441645208058	0.97417	16.09302	0.904351554665136	0.95760	13.93964	0.999999800683877	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.711	0.71501	0	.	.	5.12	5.12	0.69459	1.712000	0.37560	8.731000	0.78185	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0933:0.0:0.9067:0.0	9.476	0.38037	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3241.12	34	chr20	45886756	.	G	A	3241.12	.	AC=2;AF=0.1;AN=20;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.07;SOR=1.493	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3264,294,0	9	1	0	0
chr20	51516833	51516833	C	T	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223A:p.G408D,NFATC2:NM_001258292:exon3:c.G1223A:p.G408D,NFATC2:NM_001258294:exon3:c.G626A:p.G209D,NFATC2:NM_001258295:exon3:c.G626A:p.G209D,NFATC2:NM_001258296:exon3:c.G626A:p.G209D,NFATC2:NM_001258297:exon3:c.G626A:p.G209D,NFATC2:NM_012340:exon3:c.G1283A:p.G428D,NFATC2:NM_173091:exon3:c.G1283A:p.G428D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.893	0.262073555344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.882e-07	2.056e-06	0	1.383e-06	9.057e-07	0	0	.	.	0	0	0	0	0	0	9.057e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.7	0.72785	T	-6.5	0.91609	D	0.94	0.95608	0.381	0.88810	D	0.611	0.86246	D	10	0.9135088	0.90714	D	0.262074	0.89547	D	0.893	0.96947	0.711	0.84691	0.919610210409	0.91879	0.8600597117562743	0.85969	1.36751619527	0.84468	0.868866324425	0.92406	D	0.671936	0.90273	D	0.38892	0.89260	D	0.32088	0.89126	D	0.997196435928345	0.90986	D	0.999049	0.99552	D	0.9028719	0.91642	0.8530377	0.91708	0.9028719	0.91643	0.8530377	0.91709	-13.698	0.92426	D	.	.	1.000	0.99795	P	.;.;.;.;.;.	.;.;.;.;.;.	5.517230	0.91744	32	0.99867588980001254	0.94547	0.98253	0.80960	D	AEFDBHI	0.905011	0.85599	D	0.910254360952043	0.92253	11.31834	0.843558426454481	0.92633	11.54079	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	35.45	54	chr20	51516833	.	C	T	35.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.124;DP=479;ExcessHet=0;FS=155.874;InbreedingCoeff=-0.0543;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=1.8;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,8:55:47:.:.:47,0,1414:.	9	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	.	.	.	.	.	.	.	.	0.25	61.68	31	chr20	51516834	.	C	G	61.68	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.514;DP=459;ExcessHet=0;FS=155.874;InbreedingCoeff=-0.3355;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=1.92;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,10:55:65:.:.:65,0,1413:.	1	0	1	8
chr20	59007126	59007126	C	T	exonic	CTSZ	.	startloss	CTSZ:NM_001336:exon1:c.G3A:p.M1?	.	216	1305	1	0	0	1	0.000382995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.937131142699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.037	0.51737	D	0.039	0.21116	B	0.025	0.20508	B	0.128836	0.18716	U	0.208574	1	0.81001	D	.	.	.	-0.35	0.68616	T	-0.76	0.21215	N	0.718	0.72031	-0.8508	0.51912	T	0.180	0.52613	T	9	0.9801127	0.97968	D	0.937131	0.99551	D	0.286	0.60456	0.996	0.99957	0.652849316004	0.64995	0.60815482652862	0.60747	.	.	.	.	.	0.074106	0.34859	T	0.176958	0.71763	D	0.0164111	0.71398	D	0.749284565448761	0.43245	D	0.9	0.65058	D	0.8428107	0.86810	0.5403061	0.73433	0.8428107	0.86811	0.5403061	0.73433	-12.704	0.88107	D	.	.	.	.	.	.	.	2.881328	0.38127	20.7	0.98293596767114777	0.39973	0.17163	0.19717	N	ALL	0.019577	0.00693	N	-0.554493579526207	0.20342	1.071704	-0.579025253174854	0.20041	1.077946	0.999999999999724	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.674405	0.61402	0	0.621717	0.48901	0	.	.	3.21	2.25	0.27340	1.056000	0.30089	5.406000	0.48524	0.581000	0.30040	0.128000	0.23311	1.000000	0.68203	0.168000	0.20914	0.0:0.8536:0.0:0.1464	6.237	0.19977	985	0.02828	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	193.49	17	chr20	59007126	.	C	T	193.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=128;ExcessHet=0;FS=0;InbreedingCoeff=-0.0581;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.289;SOR=0.551	GT:AD:DP:GQ:PL	0/1:11,8:19:99:205,0,264	9	0	1	0
chr20	62326876	62326876	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon39:c.G5203A:p.V1735M	.	414	1102	6	0	0	6	0.00271493	.	.	.	728780	LAMA5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.422	0.104077176245	0.0067	0.00139776	0.0053	0.0015	0.0056	0	0.0048	0.0073	0.0056	0.0026	0.0052522	812	154602	rs45496002	0.0074	0.0074	0.0074	0.0073	0.0085	0.0072	0.0072	0.0084	0.0083	0.0010	0.0044	0.0041	2.522e-05	0.0054	0.0014	0.0085	0.0068	0.0025	0.0053	0.0053	0.0055	0.0052	0.0092	0.0050	0.0049	0.0086	0.0084	0.0012	0.0011	0.0036	0.0058	0.0002	0.0038	0.0034	0.0092	0.0028	0.0027	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000506	0.43753	D	0.199169	0.99998	0.54805	D	3.91	0.96185	H	0.59	0.53943	T	-2.42	0.53096	N	0.501	0.53357	-0.1358	0.79266	T	0.329	0.69724	T	10	0.014198393	0.00299	T	0.104077	0.77846	D	0.422	0.73078	.	.	0.694235987891	0.69160	0.6043040046195761	0.60361	.	.	0.574169158936	0.49266	T	0.102297	0.40989	T	-0.343552	0.05145	T	-0.254589	0.49363	T	0.108499092748908	0.13268	T	0.920508	0.71260	D	0.5291229	0.68780	0.4694742	0.69231	0.5291229	0.68781	0.4694742	0.69232	-9.666	0.71888	D	.	.	0.36	0.57211	A	.	.	3.777379	0.54290	23.5	0.99853624567196342	0.93279	0.76136	0.37319	D	AEFGBHCI	0.336084	0.43431	N	0.568632276339805	0.71221	5.618392	0.430952153302505	0.63502	4.58528	0.999973373697213	0.50053	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	1.586000	0.36221	4.661000	0.44237	0.599000	0.40250	0.858000	0.30578	1.000000	0.68203	0.147000	0.20199	0.0:0.92:0.0:0.08	12.036	0.52718	779	0.47767	Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1144.43	33	chr20	62326876	.	C	T	1144.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.152;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.763;SOR=0.724	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1156,0,1347	9	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	.	.	.	.	.	.	.	.	0.65	47295.9	284	chr21	13610565	.	G	A	47295.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=2.78;DP=2483;ExcessHet=1.4371;FS=1.2;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=54;MQRankSum=-7.814;QD=19.88;ReadPosRankSum=-0.068;SOR=0.588	GT:AD:DP:GQ:PL	0/1:164,115:279:99:2915,0,4235	1	4	5	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	0.65	32418.9	248	chr21	13610631	.	A	G	32418.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.799;DP=1979;ExcessHet=1.4371;FS=3.455;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=48.5;MQRankSum=-13.96;QD=17.34;ReadPosRankSum=0.791;SOR=0.955	GT:AD:DP:GQ:PL	0/1:142,112:254:99:2541,0,3601	1	4	5	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	.	.	.	.	.	.	.	.	0.7	25747.0	188	chr21	13641414	.	A	G	25747.0	.	AC=14;AF=0.7;AN=20;BaseQRankSum=0.334;DP=1444;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=58.19;MQRankSum=-1.829;QD=18.7;ReadPosRankSum=-0.493;SOR=0.683	GT:AD:DP:GQ:PL	0/1:113,90:203:99:1976,0,2876	1	5	4	0
chr21	33252732	33252732	C	G	exonic	IFNAR2	.	nonsynonymous SNV	IFNAR2:NM_000874:exon7:c.C611G:p.T204R,IFNAR2:NM_001289125:exon7:c.C611G:p.T204R,IFNAR2:NM_001289126:exon7:c.C611G:p.T204R,IFNAR2:NM_001289128:exon7:c.C611G:p.T204R,IFNAR2:NM_001385054:exon7:c.C611G:p.T204R,IFNAR2:NM_001385055:exon7:c.C611G:p.T204R,IFNAR2:NM_207584:exon7:c.C611G:p.T204R,IFNAR2:NM_207585:exon7:c.C611G:p.T204R	.	2	1414	97	9	0	115	0.0390758	.	.	.	705659	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0028	0.00479233	0.0051	0.0009	0.0036	0	0.0003	0.0050	0.0110	0.0136	0.0046701	722	154602	rs147496374	0.0035	0.0035	0.0030	0.0040	0.0392	0.0034	0.0034	0.0350	0.0334	0.0010	0.0036	0.0165	0	0.0002	0.0392	0.0025	0.0057	0.0130	0.0039	0.0039	0.0037	0.0041	0.0149	0.0036	0.0035	0.0121	0.0111	0.0005	0.0482	0.0054	0.0190	0	0.0002	0.0753	0.0039	0.0085	0.0149	0.161	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.425033	0.12822	N	0.738962	0.97282	0.38976	D	2.08	0.57402	M	1.31	0.35405	T	-3.11	0.73267	D	0.477	0.53884	-0.9382	0.42900	T	0.135	0.44875	T	10	0.010730058	0.00238	T	.	.	.	0.300	0.62068	.	.	0.764019764511	0.76186	0.7268006199058705	0.72624	0.299378326129	0.32306	0.459942519665	0.33302	T	0.265189	0.63704	T	-0.383608	0.02956	T	-0.312772	0.43360	T	0.0354205092465154	0.02880	T	0.816118	0.47523	T	0.28101838	0.51146	0.3051472	0.56542	0.29832277	0.52754	0.2683962	0.52706	-5.982	0.54933	T	.	.	0.147	0.43200	B	.;.;.;.;.;.	.;.;.;.;.;.	3.085038	0.41513	21.4	0.99482664130514209	0.66959	0.67555	0.33475	D	AEFBI	0.133793	0.25357	N	0.350668498744144	0.58776	4.051906	0.277183829879017	0.54211	3.586691	0.962429835307799	0.28622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.23	0.36150	0.371000	0.20182	2.599000	0.33511	0.599000	0.40250	0.990000	0.36992	0.991000	0.31484	0.983000	0.59808	0.0:0.7603:0.2397:0.0	9.699	0.39341	917	0.20147	.;.;Interferon/interleukin receptor domain;.;Interferon/interleukin receptor domain;Interferon/interleukin receptor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.040282	0.015152	0.033967	0.061404	0.100000	0.094828	0.033537	0.037879	0.05	1342.43	51	chr21	33252732	.	C	G	1342.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.69;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=1.16;SOR=0.692	GT:AD:DP:GQ:PL	0/1:71,55:126:99:1354,0,1633	9	0	1	0
chr21	33584623	33584623	T	C	exonic	DONSON	.	nonsynonymous SNV	DONSON:NM_017613:exon4:c.A752G:p.D251G	.	438	1073	11	0	0	11	0.00509968	.	.	.	1618712	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.196	.	0.0004	0.00499201	0.0016	0	0.0003	0.0001	0	0.0005	0.0011	0.0094	0.0014295	221	154602	rs61746119	0.0008	0.0008	0.0005	0.0011	0.0092	0.0008	0.0007	0.0087	0.0085	0	0.0002	0.0020	0	0	0.0026	0.0002	0.0012	0.0092	0.0006	0.0006	0.0004	0.0009	0.0126	0.0005	0.0005	0.0101	0.0092	2.405e-05	0	0.0001	0.0014	0	0	0.0034	0.0003	0	0.0126	0.019	0.50676	D	0.012	0.63918	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.02	0.55341	M	.	.	.	-3.84	0.72240	D	0.898	0.92084	-0.7652	0.57121	T	0.240	0.60821	T	9	0.0062004626	0.00140	T	.	.	.	0.476	0.76816	.	.	0.322230723748	0.31824	0.719153784804947	0.71858	0.533437684241	0.50783	0.43575078249	0.29996	T	0.126613	0.45311	T	0.0888978	0.63065	D	0.361175	0.90746	D	0.0890702401571597	0.11107	T	0.935006	0.75689	D	0.4511943	0.64116	0.43886068	0.67257	0.43606895	0.63149	0.40685904	0.65048	-3.24	0.12976	T	0.6100828284705221	0.67763	0.454	0.73351	A	.;.;.;.	.;.;.;.	4.735504	0.76313	26.5	0.99811261483971392	0.89531	0.95228	0.63913	D	AEFDBHCIJ	0.932795	0.92368	D	0.382170591986687	0.60456	4.234693	0.47903973225008	0.66602	4.97361	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	7.465000	0.79922	7.898000	0.73400	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:0.0:1.0	16.156	0.81479	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	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	953.43	33	chr21	33584623	.	T	C	953.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.018;DP=392;ExcessHet=0;FS=3.106;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-1.853;SOR=1.151	GT:AD:DP:GQ:PL	0/1:36,40:76:99:965,0,845	9	0	1	0
chr21	42859703	42859703	C	T	exonic	WDR4	.	nonsynonymous SNV	WDR4:NM_001260474:exon6:c.G586A:p.V196M,WDR4:NM_001260475:exon6:c.G148A:p.V50M,WDR4:NM_001260476:exon6:c.G148A:p.V50M,WDR4:NM_001260477:exon6:c.G148A:p.V50M,WDR4:NM_018669:exon6:c.G586A:p.V196M,WDR4:NM_033661:exon6:c.G586A:p.V196M	.	.	.	.	.	.	.	.	.	.	.	2108603	not_provided|WDR4-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.041712109932	0.0007	0.000199681	0.0009	0	0.0067	0	0	0.0012	0	0.0006	0.0003687	57	154602	rs141906425	0.0009	0.0009	0.0009	0.0010	0.0011	0.0009	0.0008	0.0010	0.0010	6.255e-05	0.0009	0	2.737e-05	3.998e-05	0	0.0011	0.0008	0.0005	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0008	0.0001	0	0.0009	0	0	0	0	0.0010	0.0009	0.0002	0.198	0.20532	T	0.249	0.23776	T	0.762	0.43602	P	0.164	0.34953	B	0.001418	0.39109	N	0.165679	0.99777	0.44180	D	1.19	0.30124	L	0.14	0.60854	T	-0.74	0.20791	N	0.423	0.46462	-1.0126	0.26101	T	0.118	0.41495	T	10	0.010695249	0.00237	T	0.041712	0.60078	D	0.139	0.37390	.	.	0.288727942641	0.28479	0.3913877134775434	0.39053	0.054365342963	0.06012	0.753989815712	0.75035	T	0.050875	0.28720	T	-0.370444	0.03571	T	-0.365492	0.37417	T	0.0161224733962806	0.00389	T	0.689231	0.29860	T	0.018684566	0.00391	0.04289067	0.05214	0.021496214	0.00755	0.04085712	0.04512	-7.403	0.56926	T	0.623678614580565	0.69231	0.184	0.40180	B	.;.	.;.	2.085496	0.26530	17.15	0.86386864401040175	0.16501	0.77389	0.38044	D	AEFGBCI	0.136250	0.25684	N	-0.648450693672452	0.17506	0.9013791	-0.654719552084876	0.18097	0.9652906	0.982789366613084	0.30454	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.63	2.82	0.32061	1.383000	0.33992	0.942000	0.22859	-1.005000	0.01788	0.978000	0.35038	0.399000	0.24702	0.001000	0.02609	0.0:0.7469:0.1625:0.0906	7.792	0.28289	964	0.07719	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	455.43	28	chr21	42859703	.	C	T	455.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.843;DP=345;ExcessHet=0;FS=2.636;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.108;SOR=0.561	GT:AD:DP:GQ:PL	0/1:19,21:40:99:467,0,445	9	0	1	0
chr21	44539627	44539627	G	T	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.C524A:p.T175N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00180915321356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.25979	T	0.41	0.14544	T	0.192	0.29441	B	0.305	0.41207	B	.	.	.	.	1	0.08975	N	3.65	0.94181	H	4.92	0.01404	T	-2.84	0.59873	D	0.31	0.34981	-1.0162	0.24948	T	0.013	0.05129	T	9	0.11628595	0.21931	T	0.001809	0.03115	T	0.061	0.17616	0.196	0.10839	0.27855597813	0.27464	0.021307577349215227	0.02083	0.172056808974	0.19376	0.244697540998	0.03230	T	0.05086	0.28714	T	-0.420857	0.01689	T	-0.67318	0.07406	T	0.304029577742172	0.25170	T	0.266073	0.04370	T	0.0952949	0.22423	0.1002251	0.23956	0.0952949	0.22423	0.1002251	0.23956	-9.502	0.70871	D	.	.	0.106	0.19518	B	.	.	1.166377	0.15557	11.94	0.56949404004896509	0.05662	0.01614	0.05222	N	AEFDGBI	0.029866	0.02897	N	-0.725650685475461	0.15302	0.7700295	-0.973899166601421	0.10373	0.5220618	0.0200161622659042	0.13218	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	2.09	-1.28	0.08834	0.295000	0.18821	-0.232000	0.10668	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1356:0.3922:0.4722:0.0	5.378	0.15475	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3890.43	227	chr21	44539627	.	G	T	3890.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.717;DP=2525;ExcessHet=0;FS=0.386;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.93;MQRankSum=-0.093;QD=11.08;ReadPosRankSum=-0.517;SOR=0.664	GT:AD:DP:GQ:PL	0/1:188,163:351:99:3902,0,4956	9	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3493.31	299	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	3493.31	.	AC=8;AF=0.444;AN=18;DP=3412;ExcessHet=1.5636;FS=2.538;InbreedingCoeff=-0.0667;MLEAC=9;MLEAF=0.5;MQ=59.94;QD=1.42;SOR=0.538	GT:AD:DP:GQ:PL	0/1:168,154:322:99:5720,0,6432	2	1	6	1
chr22	17497533	17497533	C	T	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290047:exon3:c.C352T:p.H118Y	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.00838328274117	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1378250296	4.105e-06	4.104e-06	6.807e-06	1.375e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.60972	D	0.999	0.77913	D	0.994	0.82059	D	0.002143	0.37138	U	0.000000	0.999998	0.81001	D	2.055	0.56616	M	.	.	.	.	.	.	0.566	0.67908	-0.5481	0.66858	T	0.290	0.66172	T	10	0.4917826	0.61034	T	0.008383	0.22181	T	0.487	0.77528	0.601	0.73226	0.472102515431	0.46837	.	.	.	.	.	.	.	0.46181	0.79843	T	0.383113	0.88908	D	0.312539	0.88769	D	0.734459042549133	0.42443	D	0.950705	0.81134	D	0.11635601	0.27445	0.14481634	0.34367	0.11635601	0.27445	0.14481634	0.34366	-9.95	0.73612	D	.	.	0.915	0.83831	P	.;.	.;.	4.420128	0.68456	25.2	0.99751444724291105	0.84305	0.98429	0.82685	D	AEFDBI	0.846575	0.76345	D	0.676562058660337	0.78096	6.803365	0.622834828915364	0.76601	6.521311	0.999999999999999	0.74766	0.634777	0.41761	0	0.547309	0.14657	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.53	5.53	0.82530	7.346000	0.78586	7.582000	0.60992	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.243000	0.23080	0.0:1.0:0.0:0.0	19.818	0.96578	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1736.43	33	chr22	17497533	.	C	T	1736.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.172;DP=442;ExcessHet=0;FS=2.256;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=1.79;SOR=0.48	GT:AD:DP:GQ:PL	0/1:59,70:129:99:1748,0,1431	9	0	1	0
chr22	17818078	17818078	T	C	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_015241:exon26:c.A4583G:p.D1528G	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.10336439934	7.9e-05	0.000199681	0.0004	0	0.0005	0.0004	0.0024	0.0003	0.0012	6.381e-05	0.0002717	42	154602	rs202169174	0.0001	0.0001	0.0001	0.0001	0.0008	0.0001	0.0001	0.0005	0.0005	5.975e-05	0.0003	0	0.0008	0.0011	0.0002	6.386e-05	0.0004	8.12e-05	0.0002	0.0002	0.0001	0.0003	0.0008	0.0001	0.0001	0.0003	0.0002	4.821e-05	0	0.0002	0	0.0008	0.0012	0	0.0001	0.0005	0	0.001	0.78490	D	0.011	0.64786	D	0.991	0.64070	D	0.793	0.57829	P	.	.	.	.	0.96678	0.38552	D	2.135	0.59519	M	-0.47	0.70133	T	-3.0	0.62343	D	0.531	0.55972	-0.5419	0.67092	T	0.308	0.67894	T	9	0.053913713	0.05658	T	0.103364	0.77736	D	0.302	0.62290	.	.	0.27064940482	0.26676	0.3398932298647577	0.33902	0.521112319639	0.49893	0.618978083134	0.55585	T	0.149467	0.48848	T	-0.177586	0.24095	T	-0.136489	0.60421	T	0.139885798096657	0.16265	T	0.960654	0.85269	D	0.23267986	0.46060	0.28038278	0.54013	0.23267986	0.46060	0.28038278	0.54012	-7.068	0.54529	T	.	.	0.655	0.71115	P	.	.	3.627292	0.51366	23.1	0.99820269769798275	0.90326	0.98478	0.83201	D	AEFDBI	0.903922	0.85359	D	0.253848712971567	0.53829	3.550283	0.272721975034911	0.53953	3.561874	0.99999947791861	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	7.573000	0.81745	7.604000	0.61663	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.353000	0.25727	0.0:0.0:0.0:1.0	14.550	0.67651	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	2991.43	36	chr22	17818078	.	T	C	2991.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.112;DP=758;ExcessHet=0;FS=4.504;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-0.555;SOR=0.746	GT:AD:DP:GQ:PL	0/1:167,135:302:99:3003,0,3986	9	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	.	.	.	.	.	.	.	.	0.4	745.45	15	chr22	21216084	.	C	T	745.45	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.13;DP=155;ExcessHet=10.3881;FS=2.76;InbreedingCoeff=-0.7054;MLEAC=8;MLEAF=0.4;MQ=44.76;MQRankSum=-1.805;QD=6.26;ReadPosRankSum=1.17;SOR=0.539	GT:AD:DP:GQ:PL	0/1:12,6:18:99:153,0,284	2	0	8	0
chr22	21939549	21939551	TCC	-	exonic	PPM1F	.	nonframeshift deletion	PPM1F:NM_014634:exon3:c.336_338del:p.E113del	.	398	1089	34	1	0	36	0.0162602	.	.	.	2090960	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0058	0.00399361	0.0070	0.0009	0.0049	0	0.0032	0.0079	0	0.0121	0.0029968	78	26028	rs551955938	0.0046	0.0047	0.0044	0.0049	0.0111	0.0045	0.0045	0.0095	0.0093	0.0006	0.0028	0.0043	0	0.0013	0.0111	0.0047	0.0040	0.0101	0.0036	0.0036	0.0036	0.0035	0.0083	0.0033	0.0032	0.0063	0.0055	0.0008	0.0154	0.0031	0.0058	0	0.0008	0	0.0054	0.0052	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009063	0.005051	0.004076	0.014620	0.000000	0.017241	0.006098	0.015152	0.05	1412.39	36	chr22	21939548	.	TTCC	T	1412.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.557;DP=415;ExcessHet=0;FS=1.707;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=0.992;SOR=0.483	GT:AD:DP:GQ:PL	0/1:57,38:95:99:1424,0,2238	9	0	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3559.91	73	chr22	23311788	.	T	TCCGG	3559.91	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.584;DP=874;ExcessHet=7.0302;FS=18.299;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.4;MQRankSum=-7.428;QD=5.06;ReadPosRankSum=0.133;SOR=1.82	GT:AD:DP:GQ:PL	0/1:93,16:109:99:391,0,3797	3	0	7	0
chr22	23767396	23767396	G	A	exonic	CHCHD10	.	nonsynonymous SNV	CHCHD10:NM_001301339:exon2:c.C239T:p.P80L,CHCHD10:NM_213720:exon2:c.C239T:p.P80L	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant;Spinal muscular atrophy, Jokela type, Autosomal dominant	430	1083	8	1	0	10	0.00459559	.	.	.	200688	Amyotrophic_lateral_sclerosis|not_provided|CHCHD10-related_disorder|Inborn_genetic_diseases|Lower_motor_neuron_syndrome_with_late-adult_onset|Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_2|Autosomal_dominant_mitochondrial_myopathy_with_exercise_intolerance	Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014025,MedGen:C3554398,OMIM:615048,Orphanet:276435|MONDO:MONDO:0014395,MedGen:C4014648,OMIM:615911,Orphanet:275872|MONDO:MONDO:0014532,MedGen:C4015513,OMIM:616209,Orphanet:457050	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.209	0.148140662492	.	.	0.0003	0	0.0005	0	0	0.0005	0.0016	0.0001	0.0002199	34	154602	rs775332895	0.0003	0.0003	0.0002	0.0003	0.0053	0.0002	0.0002	0.0036	0.0030	0.0001	0.0004	0.0031	0	0	0.0053	0.0002	0.0008	0.0001	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	7.91e-05	5.995e-05	2.407e-05	0	0.0002	0.0032	0	0	0.0306	0.0001	0.0014	0.0002	0.03	0.45756	D	0.099	0.42614	T	0.006	0.13644	B	0.003	0.08700	B	0.000020	0.62929	D	0.068756	1	0.81001	D	2.815	0.81989	M	0.77	0.49919	T	-3.69	0.81350	D	0.291	0.40864	-0.9373	0.43041	T	0.120	0.41886	T	10	0.024107188	0.00652	T	0.148141	0.83009	D	0.209	0.49871	.	.	0.307332253619	0.30352	0.3363326049649592	0.33546	0.525480461567	0.50209	0.57265996933	0.49054	T	0.192511	0.55454	T	-0.310997	0.07661	T	-0.356541	0.38453	T	0.203633466627662	0.20615	T	0.773923	0.40554	T	0.24851625	0.47838	0.29895586	0.55930	0.2675743	0.49828	0.24994572	0.50575	-10.671	0.77823	D	0.57011163419731	0.63733	0.213	0.44161	B	.;.	.;.	4.719142	0.75895	26.4	0.99354833210579085	0.60738	0.93675	0.58871	D	AEFDGBCI	0.939817	0.94091	D	-0.0561776601896449	0.39326	2.317335	0.0444492831249205	0.41804	2.517685	0.999999999999737	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.581474	0.35302	0	.	.	3.66	3.66	0.41111	6.625000	0.74112	9.564000	0.80999	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.300000	0.24500	0.0:0.0:1.0:0.0	13.735	0.62295	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	0.009734	0.010204	0.008197	0.032738	0.000000	0.017241	0.000000	0.003876	0.05	1100.43	41	chr22	23767396	.	G	A	1100.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.827;DP=445;ExcessHet=0;FS=2.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.029;SOR=1.025	GT:AD:DP:GQ:PL	0/1:41,46:87:99:1112,0,1023	9	0	1	0
chr22	27800488	27800488	C	T	exonic	MN1	.	nonsynonymous SNV	MN1:NM_002430:exon1:c.G56A:p.G19D	Meningioma, Autosomal dominant	7	1505	9	1	0	11	0.00364118	.	.	.	2822098	not_provided|MN1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.201	0.120888495442	0.0011	0.000599042	0.0012	0.0003	0.0011	0	0	0.0017	0	0.0007	0.0013389	207	154602	rs200030766	0.0017	0.0017	0.0017	0.0017	0.0076	0.0016	0.0016	0.0058	0.0052	0.0006	0.0011	0.0001	0	9.362e-05	0.0076	0.0019	0.0015	0.0009	0.0010	0.0010	0.0012	0.0008	0.0018	0.0009	0.0008	0.0015	0.0014	0.0002	0	0.0008	0	0	0	0.0068	0.0018	0.0019	0.0008	0.025	0.47320	D	0.048	0.48594	D	0.98	0.59353	D	0.814	0.58796	P	0.000820	0.41658	D	0.162027	0.810772	0.34638	D	0.55	0.14455	N	-0.23	0.66652	T	-3.21	0.64826	D	0.421	0.46086	-0.3595	0.73278	T	0.264	0.63555	T	10	0.053245902	0.05485	T	0.120888	0.80153	D	0.201	0.48592	.	.	0.913458879596	0.91259	0.20549739420354574	0.20466	.	.	0.726483404636	0.70992	T	0.357939	0.72457	T	-0.318439	0.07026	T	-0.237456	0.51047	T	0.04247010871768	0.04141	T	0.820918	0.48005	T	0.3958386	0.60443	0.38204172	0.63200	0.3958386	0.60443	0.38204172	0.63200	-4.761	0.34133	T	.	.	0.408	0.60003	A	.	.	4.314686	0.65983	24.9	0.99686653108324652	0.79641	0.97344	0.74157	D	AEFDGBHCI	0.533522	0.55294	D	0.393937005260213	0.61094	4.305913	0.429794301250253	0.63429	4.576503	0.999999999986842	0.74766	0.652421	0.48094	0	0.547309	0.14657	0	0.64067	0.45733	0	0.618803	0.45993	0	.	.	4.74	4.74	0.59717	3.651000	0.54172	2.601000	0.33522	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8402:0.1598:0.0	13.349	0.60031	981	0.03995	.	.	.	.	.	.	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	0.006793	0.008772	0.000000	0.000000	0.003049	0.000000	0.05	932.43	35	chr22	27800488	.	C	T	932.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.39;DP=411;ExcessHet=0;FS=1.867;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.77;SOR=0.484	GT:AD:DP:GQ:PL	0/1:40,37:77:99:944,0,870	9	0	1	0
chr22	30370855	30370855	C	T	exonic	CCDC157	.	nonsynonymous SNV	CCDC157:NM_001017437:exon5:c.C950T:p.A317V,CCDC157:NM_001318334:exon5:c.C950T:p.A317V	.	370	1148	3	1	0	5	0.00217297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0193088133658	.	0.000199681	2.662e-05	0.0001	0	0.0001	0	1.618e-05	0	0	2.59e-05	4	154602	rs546033949	1.164e-05	1.163e-05	8.177e-06	1.514e-05	0.0004	7.09e-06	5.8e-06	6.746e-05	3.274e-05	0	0	0	0	0	0.0004	3.597e-06	4.973e-05	9.281e-05	3.282e-05	3.281e-05	3.853e-05	2.685e-05	0.0004	1.26e-05	7.97e-06	7.29e-05	3.029e-05	4.811e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.279	0.15561	T	0.222	0.25748	T	0.239	0.30839	B	0.038	0.23361	B	0.167215	0.17482	N	0.576604	1	0.08975	N	2.48	0.72069	M	1.09	0.39223	T	-1.02	0.26843	N	0.121	0.11197	-1.0755	0.08246	T	0.060	0.25273	T	10	0.02668956	0.00829	T	0.019309	0.41638	T	0.116	0.32463	.	.	0.124217242631	0.12060	0.1175032244188644	0.11678	0.150935704758	0.17036	0.30754750967	0.11537	T	0.002283	0.01681	T	-0.291043	0.09531	T	-0.472449	0.25253	T	0.0586722493171692	0.06957	T	0.762324	0.38756	T	0.033732396	0.03651	0.046223067	0.06395	0.033732396	0.03650	0.046223067	0.06395	-6.068	0.46844	T	.	.	0.100	0.17317	B	.;.	.;.	2.280214	0.29155	18.03	0.99484468000770643	0.67069	0.11664	0.16782	N	AEFDBCI	0.076144	0.15311	N	-0.524206453479251	0.21298	1.129329	-0.486766421460147	0.22517	1.223421	0.998550781949711	0.37186	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	5.93	1.14	0.19817	0.093000	0.14925	1.239000	0.25094	0.599000	0.40250	0.000000	0.06391	0.571000	0.25572	0.734000	0.35233	0.3981:0.2768:0.1048:0.2203	1.182	0.01734	282	0.88846	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002941	0.000000	0.000000	0.000000	0.000000	0.05	1110.43	33	chr22	30370855	.	C	T	1110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.627;DP=389;ExcessHet=0;FS=1.811;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.558;SOR=0.467	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1122,0,856	9	0	1	0
chr22	36141727	36141727	C	T	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon3:c.G682A:p.A228T,APOL3:NM_014349:exon4:c.G469A:p.A157T,APOL3:NM_145639:exon4:c.G469A:p.A157T,APOL3:NM_145642:exon4:c.G82A:p.A28T,APOL3:NM_030644:exon5:c.G469A:p.A157T,APOL3:NM_145641:exon5:c.G82A:p.A28T	.	420	1018	81	3	0	87	0.0409797	.	.	.	705913	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0016	0.00479233	0.0070	0.0008	0.0023	0	0.0005	0.0038	0.0133	0.0327	0.0061254	947	154602	rs142057520	0.0045	0.0045	0.0036	0.0055	0.0304	0.0044	0.0044	0.0294	0.0290	0.0005	0.0032	0.0141	7.558e-05	0.0003	0.0213	0.0026	0.0063	0.0304	0.0032	0.0032	0.0029	0.0036	0.0284	0.0030	0.0029	0.0245	0.0231	0.0005	0.0066	0.0036	0.0092	0	0.0005	0.0238	0.0031	0.0071	0.0284	0.169	0.22920	T	0.417	0.14241	T	0.788	0.44546	P	0.397	0.44399	B	0.363263	0.13638	N	0.721939	1	0.08975	N	0.565	0.15224	N	3.77	0.03863	T	-1.02	0.46503	N	0.096	0.07673	-0.8850	0.49357	T	0.005	0.01725	T	10	0.0064413548	0.00146	T	.	.	.	0.074	0.21613	.	.	0.132336055621	0.12781	0.2831281995449334	0.28225	0.165414910226	0.18654	0.269489645958	0.06074	T	0.00967	0.08788	T	-0.61773	0.00114	T	-0.637106	0.09882	T	0.00338090782887009	0.00036	T	0.429857	0.18668	T	0.05087492	0.09258	0.053812385	0.09136	0.05087492	0.09257	0.053812385	0.09136	-5.036	0.42379	T	.	.	0.093	0.24396	B	.;.;.;.;.	.;.;.;.;.	-1.301766	0.00437	0.009	0.79448850851242914	0.12746	0.01032	0.03867	N	AEFDGBI	0.058757	0.11046	N	-1.11327166648079	0.06406	0.2947806	-1.19366562473892	0.06015	0.2882774	0.926062391168158	0.26838	0.67177	0.52595	0	0.702456	0.74545	0	0.491513	0.07944	0	0.635551	0.53088	0	.	.	4.3	-0.313	0.12121	-1.049000	0.03625	-15.654000	0.00347	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6561:0.0:0.3439	8.410	0.31799	507	0.75469	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.019134	0.000000	0.013587	0.023392	0.050000	0.043103	0.024390	0.041667	0.05	1422.43	37	chr22	36141727	.	C	T	1422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.966;DP=938;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.753;SOR=0.583	GT:AD:DP:GQ:PL	0/1:63,51:114:99:1434,0,1886	9	0	1	0
chr22	38474603	38474603	A	C	exonic	KDELR3	.	nonsynonymous SNV	KDELR3:NM_006855:exon2:c.A172C:p.I58L,KDELR3:NM_016657:exon2:c.A172C:p.I58L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	.	0.00319489	0.0017	0	0	0	0	0	0.0011	0.0127	0.0014748	228	154602	rs568333738	0.0007	0.0007	0.0004	0.0009	0.0103	0.0006	0.0006	0.0098	0.0095	0	0	3.83e-05	2.522e-05	0	0.0003	1.711e-05	0.0009	0.0103	0.0003	0.0003	0.0002	0.0004	0.0094	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0	0	0	0	0	0.0094	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.06944	B	0.105508	0.19655	N	0.541750	0.997948	0.22431	N	-1.445	0.00556	N	1.68	0.27184	T	0.22	0.04694	N	0.262	0.30004	-0.9493	0.41092	T	0.013	0.04890	T	10	0.009103596	0.00206	T	.	.	.	0.052	0.14661	.	.	0.252162846088	0.24830	0.5907734261890317	0.59007	0.130440611418	0.14714	0.389241188765	0.23563	T	0.001511	0.00960	T	-0.633445	0.00091	T	-0.672288	0.07462	T	0.0159804674286735	0.00380	T	0.782222	0.42297	T	0.037487485	0.04815	0.041220337	0.04634	0.037487485	0.04814	0.041220337	0.04634	-1.126	0.01546	T	.	.	0.059	0.00919	B	.;.	.;.	0.767367	0.11374	7.987	0.66478726392947529	0.08071	0.14611	0.18494	N	AEFDBI	0.125112	0.24148	N	-1.11595518390641	0.06359	0.2924936	-0.923119287250423	0.11550	0.5890433	0.504631949144205	0.20971	0.706548	0.73137	0	0.627178	0.54094	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.55	1.03	0.19161	-0.580000	0.05920	0.181000	0.15632	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.4613:0.2049:0.3338:0.0	6.035	0.18924	680	0.59965	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.003788	0.05	1004.43	34	chr22	38474603	.	A	C	1004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.964;DP=402;ExcessHet=0;FS=2.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.593;SOR=1.032	GT:AD:DP:GQ:PL	0/1:46,42:88:99:1016,0,1104	9	0	1	0
chr22	41150154	41150154	C	A	exonic	EP300	.	nonsynonymous SNV	EP300:NM_001362843:exon13:c.C2695A:p.P899T,EP300:NM_001429:exon14:c.C2773A:p.P925T	Colorectal cancer, somatic;Rubinstein-Taybi syndrome 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	137778	Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations|not_provided|Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency|Colorectal_cancer|Menke-Hennekam_syndrome_2|not_specified	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783|MedGen:C3661900|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.289	0.025352112342	0.0050	0.00159744	0.0040	0.0018	0.0062	0	0.0015	0.0055	0.0024	0.0012	0.0039456	610	154602	rs148884710	0.0063	0.0063	0.0065	0.0060	0.0075	0.0062	0.0061	0.0074	0.0073	0.0010	0.0062	0.0004	0	0.0014	0.0024	0.0075	0.0054	0.0012	0.0040	0.0040	0.0041	0.0039	0.0063	0.0037	0.0036	0.0058	0.0056	0.0014	0	0.0057	0.0017	0	0.0012	0.0136	0.0063	0.0061	0.0002	0.05	0.39575	D	0.282	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	0.004949	0.33236	N	0.135740	0.818666	0.34743	D	1.75	0.45442	L	-1.79	0.83815	D	-2.0	0.46146	N	0.567	0.59053	-0.5627	0.66301	T	0.297	0.66867	T	10	0.009721637	0.00219	T	0.025352	0.48322	D	0.289	0.60808	.	.	0.889773523501	0.88869	0.25618946718022345	0.25532	.	.	0.598065972328	0.52631	T	0.443073	0.78700	T	-0.286318	0.10008	T	-0.174657	0.57015	T	0.00952088067982375	0.00123	T	0.839216	0.51320	T	0.06929695	0.15169	0.066059254	0.13479	0.06929695	0.15169	0.066059254	0.13478	-4.886	0.35577	T	0.13307475687638656	0.14248	0.083	0.09433	B	.	.	2.778162	0.36485	20.3	0.94580481384287529	0.25122	0.91930	0.54572	D	AEFBHI	0.156378	0.28173	N	-0.445340009290879	0.23899	1.286636	-0.277761325775103	0.28832	1.610663	0.353908257737698	0.19710	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	3.85	0.43556	1.827000	0.38740	2.733000	0.34404	-0.257000	0.07002	0.765000	0.29300	0.994000	0.32194	0.813000	0.38311	0.0:0.7318:0.1307:0.1375	8.050	0.29736	285	0.88719	.	.	.	.	.	.	Likely benign	0	0	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	0.004028	0.020202	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	1404.43	42	chr22	41150154	.	C	A	1404.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.002;DP=471;ExcessHet=0;FS=0.762;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.231;SOR=0.824	GT:AD:DP:GQ:PL	0/1:76,55:131:99:1416,0,2060	9	0	1	0
chr22	42128181	42128181	A	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon4:c.T683A:p.M228K,CYP2D6:NM_000106:exon5:c.T836A:p.M279K	.	2	1515	4	1	0	6	0.00197628	.	.	.	817952	Tramadol_response	MedGen:CN078023	no_assertion_criteria_provided	drug_response	.	.	.	.	.	.	.	.	0.321	.	.	0.00419329	0.0023	0.0003	0.0182	0	0	0	0	0.0051	0.0017464	270	154602	rs1135828	0.0010	0.0012	0.0008	0.0012	0.0114	0.0009	0.0009	0.0108	0.0105	0	0.0086	0	0.0002	0	0	1.083e-05	0.0011	0.0114	0.0010	0.0010	0.0006	0.0013	0.0161	0.0008	0.0008	0.0131	0.0120	0.0001	0	0.0040	0	0	0	0	1.503e-05	0.0005	0.0161	0.008	0.58626	D	0.021	0.60972	D	.	.	.	.	.	.	0.107920	0.19550	N	0.495958	0.999682	0.48270	D	1.74	0.45129	L	-0.11	0.64445	T	-4.41	0.77965	D	0.413	0.53181	-0.8752	0.50135	T	0.146	0.46967	T	10	0.010121793	0.00226	T	.	.	.	0.321	0.64318	.	.	0.588834294336	0.58558	0.7882639691376796	0.78778	0.183163157925	0.20599	0.341386795044	0.16645	T	0.025134	0.38968	T	-0.204384	0.20176	T	-0.0569654	0.66543	D	0.0681880821534846	0.08396	T	0.637336	0.25103	T	0.36416996	0.58151	0.341908	0.59924	0.36416996	0.58152	0.341908	0.59923	-6.928	0.53507	T	.	.	0.295	0.52614	B	.;.;.;.;.	.;.;.;.;.	3.172921	0.43041	21.7	0.95143471143796843	0.26268	0.55735	0.29939	D	AEFDI	0.650506	0.62459	D	-0.421261016782285	0.24725	1.337097	-0.320743469659828	0.27429	1.521972	0.0255723852043059	0.13657	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.4	3.28	0.36691	4.791000	0.62154	9.013000	0.78554	0.691000	0.84096	0.666000	0.28313	0.987000	0.30940	0.355000	0.25773	0.8373:0.1627:0.0:0.0	10.398	0.43398	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1201.43	37	chr22	42128181	.	A	T	1201.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.64;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.31;MQRankSum=-9.004;QD=12.39;ReadPosRankSum=-1.306;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,34:97:99:0|1:42128181_A_T:1213,0,2508:42128181	9	0	1	0
chr22	42128185	42128185	C	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon4:c.G679A:p.E227K,CYP2D6:NM_000106:exon5:c.G832A:p.E278K	.	2	1515	4	1	0	6	0.00197628	.	.	.	817953	Tramadol_response	MedGen:CN078023	no_assertion_criteria_provided	drug_response	.	.	.	.	.	.	.	.	0.329	.	.	0.00399361	0.0007	0	0	0	0	0	0	0.0051	0.0011526	30	26028	rs77913725	0.0007	0.0009	0.0005	0.0010	0.0115	0.0007	0.0007	0.0109	0.0107	0	2.265e-05	0	0.0002	0	0	9.019e-06	0.0009	0.0115	0.0005	0.0005	0.0002	0.0008	0.0152	0.0004	0.0004	0.0124	0.0114	9.816e-05	0	0	0	0	0	0	1.478e-05	0.0005	0.0152	0.01	0.56456	D	0.141	0.33442	T	.	.	.	.	.	.	0.000330	0.45700	D	0.148252	0.999976	0.53665	D	1.35	0.33515	L	-0.24	0.66834	T	-3.74	0.71042	D	0.426	0.50868	-0.7333	0.58796	T	0.252	0.62166	T	10	0.0071584284	0.00163	T	.	.	.	0.329	0.65126	0.598	0.72862	0.648949747153	0.64603	0.7808645444419238	0.78037	0.140136811154	0.15799	0.427451491356	0.28861	T	0.018513	0.37672	T	-0.121261	0.32916	T	-0.118472	0.61929	T	0.131292493978093	0.15501	T	0.791621	0.47040	T	0.4159809	0.61824	0.3414125	0.59881	0.4159809	0.61824	0.3414125	0.59880	-9.076	0.68184	D	.	.	0.273	0.52881	B	.;.;.;.;.	.;.;.;.;.	2.420013	0.31114	18.64	0.9975775541097498	0.84772	0.44473	0.27326	N	AEFDI	0.482620	0.52341	N	-0.473328352916868	0.22956	1.229463	-0.444953648382078	0.23692	1.293378	8.61634359655264E-4	0.07931	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.4	2.0	0.25495	0.365000	0.20076	-0.008000	0.13101	0.549000	0.26987	0.023000	0.19925	0.000000	0.08366	0.295000	0.24381	0.0:0.6826:0.3174:0.0	12.683	0.56296	106	0.95650	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1167.43	37	chr22	42128185	.	C	T	1167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.15;DP=444;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.54;MQRankSum=-8.928;QD=11.67;ReadPosRankSum=-1.111;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,33:100:99:0|1:42128181_A_T:1179,0,2597:42128181	9	0	1	0
chr22	45358784	45358784	T	G	exonic	SMC1B	.	nonsynonymous SNV	SMC1B:NM_001291501:exon19:c.A2874C:p.E958D,SMC1B:NM_148674:exon19:c.A2874C:p.E958D	.	435	1080	7	0	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	.	.	0.00858626	0.0047	0	0.0002	0	0	3.001e-05	0.0022	0.0339	0.0040426	625	154602	rs199833095	0.0020	0.0020	0.0011	0.0029	0.0319	0.0019	0.0019	0.0309	0.0305	5.993e-05	2.249e-05	0	5.051e-05	0	0.0012	2.161e-05	0.0024	0.0319	0.0011	0.0011	0.0007	0.0016	0.0346	0.0010	0.0009	0.0303	0.0286	2.405e-05	0	6.535e-05	0	0	0	0	1.47e-05	0.0005	0.0346	0.521	0.07720	T	0.581	0.13403	T	.	.	.	.	.	.	0.068704	0.21654	N	0.423379	0.810817	0.34638	D	.	.	.	-1.22	0.78752	T	-0.33	0.17210	N	0.138	0.19325	-0.8382	0.52766	T	0.218	0.58098	T	10	0.0029177666	0.00047	T	.	.	.	0.142	0.37995	0.407	0.44066	0.431743554055	0.42795	0.3097513824259511	0.30888	0.263362769857	0.28890	0.442795038223	0.30959	T	.	.	.	-0.534962	0.00359	T	-0.516145	0.20686	T	0.0206704880206403	0.00767	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24666	B	.;.	.;.	1.416175	0.18325	13.67	0.97378250090919793	0.33656	0.35729	0.25369	N	AEFBI	0.113646	0.22415	N	-0.500214194332908	0.22074	1.176106	-0.350356827993745	0.26498	1.463999	5.54846206246965E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.07	3.92	0.44525	0.300000	0.18911	0.871000	0.22313	0.661000	0.55757	0.028000	0.20300	0.727000	0.26391	0.997000	0.79791	0.1349:0.1337:0.141:0.5903	2.014	0.03283	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.015152	0.05	942.43	35	chr22	45358784	.	T	G	942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.046;DP=404;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.18;SOR=0.926	GT:AD:DP:GQ:PL	0/1:39,39:78:99:954,0,1070	9	0	1	0
chrX	7843963	7843963	G	A	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.G568A:p.V190M	.	437	977	32	24	52	132	0.0393314	.	.	.	2823790	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.114	.	.	0.00397351	0.0023	0.0005	0.0015	0	0.0064	0.0024	0.0034	0.0033	0.0033311	515	154602	rs201876650	0.0058	0.0087	0.0070	0.0034	0.0127	0.0057	0.0056	0.0090	0.0078	0.0004	0.0027	0.0047	4.041e-05	0.0127	0.0127	0.0060	0.0058	0.0058	0.0042	0.0065	0.0052	0.0001	0.0066	0.0038	0.0037	0.0059	0.0056	0.0006	0	0.0016	0.0077	0	0.0070	0	0.0066	0.0033	0.0061	0.138	0.25873	T	0.106	0.37872	T	0.96	0.55278	D	0.35	0.42815	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	1.95	0.22474	T	-0.73	0.25986	N	0.067	0.03956	-0.9754	0.36037	T	0.015	0.06090	T	8	0.0065913796	0.00149	T	.	.	.	0.114	0.32008	.	.	0.043077524339	0.03247	0.0032430097609367696	0.00302	0.354020575304	0.37190	0.454822123051	0.32603	T	0.011581	0.10309	T	-0.720018	0.00028	T	-0.892538	0.00557	T	0.00885473886292793	0.00110	T	0.460954	0.13351	T	0.105991945	0.25061	0.08594243	0.19877	0.105991945	0.25061	0.08594243	0.19877	-6.074	0.46894	T	.	.	0.125	0.26514	B	.;.	.;.	1.214405	0.16076	12.30	0.56313972898184261	0.05526	0.00026	0.00253	N	AEFI	.	.	.	.	.	.	.	.	.	2.63253077637493E-4	0.06244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.318000	0.02813	-3.812000	0.02521	-2.279000	0.00328	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.6784:0.3216:0.0	5.945	0.18451	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.007212	0.010753	0.001873	0.011628	0.000000	0.012048	0.010582	0.011561	0.0625	1387.9	268	chrX	7843963	.	G	A	1387.9	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.865;DP=2148;ExcessHet=0.2633;FS=0;InbreedingCoeff=0.0188;MLEAC=1;MLEAF=0.063;MQ=54.76;MQRankSum=-12.94;QD=3.13;ReadPosRankSum=0.484;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,51:251:99:0|1:7843963_G_A:1398,0,7933:7843963	7	0	1	2
chrX	27463292	27463292	G	A	exonic	PPP4R3C	.	nonsynonymous SNV	PPP4R3C:NM_207319:exon1:c.C5T:p.A2V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.30008	B	0.086	0.29521	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10254136	0.18799	T	.	.	.	.	.	.	.	.	.	0.22131342728465525	0.22047	.	.	.	.	.	0.048662	0.28082	T	.	.	.	.	.	.	.	.	.	0.316668	0.06305	T	0.028472312	0.02189	0.07439113	0.16269	0.028472312	0.02188	0.07439113	0.16268	-6.335	0.48999	T	.	.	0.412	0.60232	A	.	.	0.111378	0.05106	1.639	0.75492423112391516	0.11096	0.50009	0.28564	D	AEFI	.	.	.	.	.	.	.	.	.	5.01881244539671E-5	0.03989	.	.	.	.	.	.	.	.	.	.	.	.	0.0443366	0.03230	4.33	-2.07	0.06873	1.375000	0.33900	-0.158000	0.11351	-0.824000	0.02932	0.913000	0.31760	0.000000	0.08366	0.001000	0.02609	0.1655:0.1204:0.3264:0.3877	1.713	0.02721	628	0.65206	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	31.46	0	chrX	27463292	.	G	A	31.46	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	4	0	1	5
chrX	27822288	27822288	G	A	exonic	MAGEB10	.	nonsynonymous SNV	MAGEB10:NM_182506:exon3:c.G982A:p.V328I	.	431	1057	19	15	0	49	0.0226537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0024	0.00741722	0.0064	0.0008	0.0008	0.0002	0.0046	0.0045	0.0174	0.0311	0.0060931	942	154602	rs146965052	0.0050	0.0050	0.0045	0.0062	0.0317	0.0049	0.0049	0.0304	0.0299	0.0006	0.0005	0.0050	6.622e-05	0.0052	0.0191	0.0037	0.0049	0.0317	0.0034	0.0035	0.0034	0.0034	0.0260	0.0031	0.0030	0.0211	0.0194	0.0006	0	0.0005	0.0057	0.0006	0.0051	0.0229	0.0043	0.0026	0.0260	0.572	0.06145	T	0.157	0.31730	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	4.7	0.01673	T	-0.36	0.13035	N	0.027	0.00571	-0.9027	0.47705	T	0.002	0.00676	T	9	0.002999872	0.00049	T	.	.	.	0.024	0.04979	.	.	0.043077524339	0.03247	0.30905830003244733	0.30818	0.274155545098	0.29911	0.38194924593	0.22533	T	0.003	0.01994	T	-0.97411	0.00000	T	-1.14902	0.00008	T	0.00272581046394871	0.00028	T	0.119788	0.00924	T	0.028556041	0.02212	0.043278653	0.05349	0.028556041	0.02211	0.043278653	0.05349	-4.851	0.35179	T	.	.	0.078	0.07697	B	.;.	.;.	-0.436274	0.02080	0.193	0.44550226678641525	0.03433	0.00020	0.00220	N	AEFI	.	.	.	.	.	.	.	.	.	0.845199729666652	0.24940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.79	-3.16	0.04897	0.067000	0.14378	-0.627000	0.08144	-0.901000	0.02322	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2507:0.0:0.7493:0.0	11.516	0.49773	924	0.18029	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.015862	0.000000	0.009276	0.011858	0.000000	0.047059	0.008850	0.047368	0.1	1336.12	37	chrX	27822288	.	G	A	1336.12	.	AC=2;AF=0.1;AN=20;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.4;SOR=1.151	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1359,120,0	9	1	0	0
chrX	47147429	47147429	G	A	exonic	RBM10	.	nonsynonymous SNV	RBM10:NM_001204468:exon2:c.G143A:p.R48Q	TARP syndrome, X-linked recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1309528	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.000264901	2.732e-05	0	0	0	0	2.512e-05	0	0.0001	6.47e-05	10	154602	rs781795179	3.557e-05	3.551e-05	3.268e-05	4.145e-05	0.0007	2.663e-05	2.338e-05	0.0002	0.0001	7.582e-05	0	0	0	0	0.0007	3.331e-05	6.526e-05	5.552e-05	8.934e-05	8.699e-05	0.0001	5.864e-05	0.0004	4.807e-05	3.683e-05	7.454e-05	5.457e-05	0	0	0	0	0	0	0	0.0002	0.0007	0.0004	.	.	.	0.174	0.30045	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.056	0.02759	.	.	.	.	.	.	.	0.06723988	0.09340	T	.	.	.	.	.	.	.	0.47764994848	0.47394	0.11643227861072186	0.11571	.	.	0.500855743885	0.38948	T	.	.	.	-0.161479	0.26531	T	-0.357239	0.38373	T	.	.	.	0.848715	0.53056	T	.	.	.	.	.	.	.	.	-4.425	0.29894	T	.	.	0.163	0.35972	B	.	.	1.861153	0.23640	16.10	0.9258238159509864	0.22040	0.64560	0.32446	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999839408728	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.856915	0.52390	4.19	4.19	0.48645	1.722000	0.37665	2.867000	0.35241	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	11.505	0.49710	59	0.97452	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2337.12	33	chrX	47147429	.	G	A	2337.12	.	AC=2;AF=0.1;AN=20;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.5;SOR=0.846	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2360,246,0	9	1	0	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	0.6	158397.0	692	chrX	55146104	.	G	A	158397.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.32;DP=6323;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6653;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=25.85;ReadPosRankSum=0.287;SOR=0.699	GT:AD:DP:GQ:PL	0/1:73,550:623:99:15727,0,334	0	2	8	0
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	0.3889	17194.3	727	chrX	55146173	.	G	A	17194.3	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-0.183;DP=6264;ExcessHet=7.0302;FS=0.657;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=3.88;ReadPosRankSum=-1.269;SOR=0.764	GT:AD:DP:GQ:PL	0/1:566,53:619:99:231,0,17947	2	0	7	1
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	0.4	18556.0	651	chrX	55146197	.	G	A	18556.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.77;DP=5678;ExcessHet=10.3881;FS=1.386;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=0.06;SOR=0.804	GT:AD:DP:GQ:PL	0/1:511,48:559:99:293,0,17068	2	0	8	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.55	134143.0	565	chrX	55146212	.	C	T	134143.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=2.02;DP=5292;ExcessHet=15.1594;FS=0.71;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=26.73;ReadPosRankSum=1.7;SOR=0.564	GT:AD:DP:GQ:PL	0/1:68,432:500:99:13438,0,527	0	1	9	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T,FAM104B:NM_001166700:exon3:c.T209C:p.I70T,FAM104B:NM_001166701:exon3:c.T206C:p.I69T,FAM104B:NM_001166702:exon3:c.T197C:p.I66T,FAM104B:NM_001166703:exon3:c.T203C:p.I68T,FAM104B:NM_138362:exon3:c.T206C:p.I69T	.	377	953	191	1	0	193	0.0919485	.	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	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	.	.	.	.	.	.	.	.	0.3	8214.98	454	chrX	55146226	.	A	G	8214.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.09;DP=4470;ExcessHet=4.5998;FS=0.676;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.83;ReadPosRankSum=0.786;SOR=0.622	GT:AD:DP:GQ:PL	0/1:374,77:451:99:1207,0,11949	4	0	6	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	.	.	.	.	.	.	.	.	0.55	71226.0	403	chrX	55146254	.	T	C	71226.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.498;DP=3799;ExcessHet=15.1594;FS=1.854;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.82;ReadPosRankSum=-1.02;SOR=0.524	GT:AD:DP:GQ:PL	0/1:88,255:343:99:8007,0,1999	0	1	9	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	0.55	71590.0	324	chrX	55146275	.	T	G	71590.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=0.041;DP=2982;ExcessHet=15.1594;FS=7.491;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=25.64;ReadPosRankSum=-3.645;SOR=0.437	GT:AD:DP:GQ:PL	0/1:57,204:261:99:6807,0,1488	0	1	9	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	10330.0	270	chrX	55146283	.	C	T	10330.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.191;DP=2533;ExcessHet=7.0302;FS=1.237;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=5.88;ReadPosRankSum=-0.86;SOR=0.773	GT:AD:DP:GQ:PL	0/1:177,43:220:99:679,0,6116	3	0	7	0
chrX	64348684	64348684	C	T	exonic	MTMR8	.	nonsynonymous SNV	MTMR8:NM_017677:exon6:c.G708A:p.M236I	.	.	.	.	.	.	.	.	.	.	.	2254947	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.232	0.0339547160608	.	.	6.887e-05	0	0	0	0	4.193e-05	0	0.0004	5.82e-05	9	154602	rs749084903	3.281e-05	3.278e-05	2.179e-05	5.509e-05	0.0003	2.402e-05	2.131e-05	0.0002	0.0001	0	0	0	0	0	0	2.495e-05	0	0.0003	8.925e-06	8.705e-06	0	2.922e-05	1.88e-05	0	0	.	.	0	0	0	0	0	0	0	1.88e-05	0	0	0.285	0.15251	T	0.213	0.26467	T	0.019	0.17989	B	0.057	0.26280	B	0.043269	0.23756	U	0.313431	0.971197	0.38853	D	0.365	0.12025	N	-3.02	0.92258	D	-2.18	0.49187	N	0.029	0.00666	-0.2759	0.75652	T	0.538	0.82936	D	10	0.107062966	0.19870	T	0.033955	0.55345	D	0.232	0.53354	0.588	0.71623	0.779187872226	0.77714	0.49965509067083197	0.49886	0.00292671141453	0.00252	0.584353327751	0.50699	T	0.570123	0.85752	D	-0.345825	0.04995	T	-0.412564	0.31929	T	0.0641206353561728	0.07800	T	0.811819	0.46320	T	0.45026684	0.64057	0.31158525	0.57164	0.45026684	0.64058	0.31158525	0.57164	-6.666	0.51554	T	.	.	0.343	0.56111	A	.	.	1.634863	0.20867	14.95	0.93899757759594127	0.23928	0.62625	0.31838	D	AEFGI	.	.	.	.	.	.	.	.	.	0.0100392947981125	0.11955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.68	1.66	0.23081	0.679000	0.24971	-0.021000	0.12925	0.530000	0.24713	1.000000	0.71638	0.955000	0.29136	0.999000	0.91618	0.0:0.7948:0.2051:0.0	10.018	0.41201	16	0.98727	Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1368.12	33	chrX	64348684	.	C	T	1368.12	.	AC=2;AF=0.1;AN=20;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.5;SOR=0.866	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1391,144,0	9	1	0	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.25	632.51	118	chrX	74591813	.	G	A	632.51	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.041;DP=664;ExcessHet=2.8389;FS=0.949;InbreedingCoeff=-0.3742;MLEAC=5;MLEAF=0.25;MQ=58.42;MQRankSum=-6.076;QD=1.81;ReadPosRankSum=-2.665;SOR=0.746	GT:AD:DP:GQ:PL	0/1:57,10:67:99:135,0,1874	5	0	5	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.4	6265.98	352	chrX	74591904	.	A	G	6265.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.776;DP=1908;ExcessHet=10.3881;FS=2.691;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.48;MQRankSum=-11.5;QD=3.42;ReadPosRankSum=3.83;SOR=0.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,35:212:99:0|1:74591902_T_A:937,0,7327:74591902	2	0	8	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	10	1315	197	0	0	197	0.0696852	.	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.3	3679.98	394	chrX	74591957	.	C	T	3679.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.459;DP=1750;ExcessHet=4.5998;FS=3.02;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=58.76;MQRankSum=-13.15;QD=2.3;ReadPosRankSum=-2.776;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,29:216:99:0|1:74591902_T_A:655,0,7738:74591902	4	0	6	0
chrX	96738667	96738667	G	A	exonic	DIAPH2	.	nonsynonymous SNV	DIAPH2:NM_006729:exon3:c.G247A:p.A83T,DIAPH2:NM_007309:exon3:c.G247A:p.A83T	Premature ovarian failure	16	1496	7	3	0	13	0.00432612	.	.	.	717879	not_provided|Premature_ovarian_failure_2A	MedGen:C3661900|MONDO:MONDO:0010350,MedGen:C1845293,OMIM:300511	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.139	.	0.0072	0.0018543	0.0066	0.0015	0.0026	0	0.0075	0.0102	0.0080	0.0017	0.0067593	1045	154602	rs20374	0.0086	0.0087	0.0088	0.0083	0.0102	0.0085	0.0084	0.0100	0.0099	0.0007	0.0037	0.0007	0	0.0070	0.0051	0.0102	0.0070	0.0020	0.0063	0.0064	0.0069	0.0051	0.0106	0.0060	0.0058	0.0098	0.0095	0.0014	0.0015	0.0027	0.0008	0	0.0095	0.0093	0.0106	0.0066	0.0011	0.334	0.12961	T	0.369	0.16522	T	0.003	0.35185	B	0.003	0.17295	B	0.021744	0.26770	N	0.317981	1	0.08975	N	-0.49	0.02651	N	-1.4	0.80899	T	0.33	0.03889	N	0.036	0.02179	-0.9458	0.41681	T	0.163	0.49930	T	10	0.0035434961	0.00064	T	.	.	.	0.139	0.37390	.	.	0.573349579966	0.57003	0.2628030064812272	0.26193	0.315393690545	0.33817	0.296181857586	0.09834	T	0.225414	0.59015	T	-0.679394	0.00048	T	-0.738291	0.03963	T	0.0115623902065956	0.00175	T	0.656934	0.28590	T	0.08711413	0.20272	0.11687879	0.28216	0.07234743	0.16085	0.11687879	0.28215	-3.177	0.12202	T	.	.	0.067	0.02518	B	.;.;.;.;.	.;.;.;.;.	0.457584	0.08275	5.019	0.98235523041168726	0.39431	0.07731	0.13732	N	AEFGI	.	.	.	.	.	.	.	.	.	0.88857088110601	0.25792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.62	4.76	0.60189	0.148000	0.16042	0.271000	0.16657	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.899000	0.43558	0.0804:0.1345:0.644:0.141	5.599	0.16623	709	0.56835	.;.;.;.;.	.	.	.	.	.	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	0.007597	0.000000	0.007421	0.003968	0.000000	0.000000	0.017699	0.010526	0.1	861.12	33	chrX	96738667	.	G	A	861.12	.	AC=2;AF=0.1;AN=20;DP=294;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.7;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,30:30:90:884,90,0	9	1	0	0
chrX	104013456	104013456	G	A	exonic	H2BW1	.	nonsynonymous SNV	H2BW1:NM_001002916:exon1:c.C205T:p.P69S	.	415	1095	4	8	0	20	0.00904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0003	0.0018543	0.0014	0	0	0.0002	0	0.0004	0.0033	0.0100	0.0013325	206	154602	rs142056526	0.0007	0.0007	0.0005	0.0010	0.0091	0.0006	0.0006	0.0084	0.0081	7.576e-05	2.841e-05	0	3.311e-05	0	0.0027	0.0002	0.0007	0.0091	0.0002	0.0003	0.0002	0.0004	0.0063	0.0002	0.0001	0.0040	0.0033	0	0	9.305e-05	0	0	0	0	0.0002	0.0006	0.0063	0.354	0.12148	T	0.862	0.03390	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	0.26	0.04380	N	0.042	0.01498	-0.9510	0.40799	T	0.020	0.08266	T	9	0.006279409	0.00142	T	.	.	.	0.011	0.01250	.	.	0.383760037723	0.37989	0.10350498165794607	0.10280	0.0104087271665	0.00958	0.252202391624	0.04004	T	.	.	.	-0.831986	0.00004	T	-0.961044	0.00229	T	0.0229975353072115	0.01023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11558	B	.;.	.;.	-1.090626	0.00652	0.018	0.6920171505637408	0.08897	0.12500	0.17307	N	AEFBI	.	.	.	.	.	.	.	.	.	1.19901015166295E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.66	-0.483	0.11472	-1.051000	0.03618	-9.698000	0.00788	-1.508000	0.01019	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1306:0.3775:0.4919:0.0	5.583	0.16543	465	0.78421	.;.	.	.	.	.	.	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	0.002065	0.000000	0.000000	0.003953	0.000000	0.000000	0.000000	0.010526	0.1	2694.12	37	chrX	104013456	.	G	A	2694.12	.	AC=2;AF=0.1;AN=20;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.27;SOR=0.761	GT:AD:DP:GQ:PL	1/1:0,89:89:99:2717,267,0	9	1	0	0
chrX	120159182	120159182	G	A	exonic	RHOXF2;RHOXF2B	.	nonsynonymous SNV	RHOXF2B:NM_001099685:exon2:c.G247A:p.A83T,RHOXF2:NM_032498:exon2:c.G247A:p.A83T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	0.0058	0.00423841	0.0020	0.0173	0.0010	0	0	6.357e-05	0.0033	0.0017	0.0015071	233	154602	rs145501005	0.0006	0.0006	0.0007	0.0004	0.0155	0.0005	0.0005	0.0143	0.0138	0.0155	0.0015	0	0	0	0.0010	5.114e-05	0.0014	0.0014	0.0043	0.0049	0.0051	0.0025	0.0146	0.0040	0.0039	0.0135	0.0130	0.0146	0	0.0021	0	0	0	0.0046	0.0002	0.0060	0.0008	0.697	0.04213	T	0.434	0.13557	T	0.972	0.57405	D	0.585	0.50320	P	.	.	.	.	1	0.08975	N	0.145	0.08828	N	-2.94	0.91851	D	0.57	0.02638	N	0.032	0.00825	-0.4687	0.69770	T	0.312	0.68220	T	9	0.0043082833	0.00087	T	.	.	.	0.271	0.58633	.	.	0.182106788282	0.17826	0.062111799702617265	0.06151	1.84720833392	0.92245	0.294213175774	0.09540	T	0.009456	0.08612	T	-0.626585	0.00100	T	-0.659196	0.08321	T	0.0182163499870305	0.00542	T	0.265573	0.04334	T	0.02980009	0.02535	0.068799615	0.14414	0.02980009	0.02534	0.068799615	0.14414	-5.026	0.37121	T	.	.	0.070	0.03336	B	.	.	-1.595531	0.00242	0.004	0.92195039762088904	0.21564	0.03231	0.08245	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.018996162786571	0.13118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.02	0.068	0.13682	-2.653000	0.00928	-7.006000	0.01253	-2.361000	0.00305	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1927:0.2873:0.52:0.0	2.994	0.05626	900	0.24599	.	.	.	.	.	.	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	0.003915	0.000000	0.005607	0.014706	0.000000	0.000000	0.000000	0.000000	0.2	3944.53	36	chrX	120159182	.	G	A	3944.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.157;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=40.15;MQRankSum=1.24;QD=29.66;ReadPosRankSum=1.49;SOR=0.561	GT:AD:DP:GQ:PL	1/1:1,69:70:99:2082,178,0	8	2	0	0
chrX	130015675	130015675	C	T	exonic	BCORL1	.	nonsynonymous SNV	BCORL1:NM_001379450:exon4:c.C2903T:p.P968L,BCORL1:NM_001379451:exon4:c.C2903T:p.P968L,BCORL1:NM_021946:exon4:c.C2903T:p.P968L,BCORL1:NM_001184772:exon5:c.C2903T:p.P968L	.	.	.	.	.	.	.	.	.	.	.	377752	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.0455335532336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1057522774	9.106e-07	9.105e-07	0	2.751e-06	1.187e-06	0	0	.	.	0	0	0	0	0	0	1.187e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	.	.	.	.	.	.	0.002626	0.36208	N	0.000000	0.999966	0.58761	D	.	.	.	0.66	0.52416	T	-2.17	0.59059	N	0.139	0.15187	-0.8955	0.48437	T	0.145	0.46805	T	10	0.22638425	0.39492	T	0.045534	0.62027	D	0.062	0.17934	0.28	0.23483	0.250512400709	0.24649	0.3154304744124127	0.31456	0.988027751352	0.73976	0.314581632614	0.12600	T	0.029618	0.21180	T	-0.188311	0.22507	T	-0.508272	0.21492	T	0.797715161658799	0.46199	D	0.769823	0.39947	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.06896	B	.;.;.	.;.;.	2.812999	0.37040	20.4	0.99821877145779758	0.90502	0.85202	0.44314	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.419282137340248	0.20278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17	4.3	0.50540	3.603000	0.53825	5.901000	0.50888	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:0.9188:0.0:0.0812	12.857	0.57275	428	0.80967	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2142.12	38	chrX	130015675	.	C	T	2142.12	.	AC=2;AF=0.1;AN=20;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=34;SOR=0.79	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2165,189,0	9	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	.	.	.	.	.	.	.	.	0.4	353.72	80	chrX	135580144	.	G	C	353.72	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.669;DP=603;ExcessHet=10.3881;FS=244.206;InbreedingCoeff=-0.6585;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=-0.147;SOR=10.741	GT:AD:DP:GQ:PL	0/1:23,17:42:55:55,0,326	2	0	8	0
chrX	141905868	141905868	T	C	exonic	MAGEC1	.	nonsynonymous SNV	MAGEC1:NM_005462:exon4:c.T464C:p.F155S	.	423	1074	10	6	9	31	0.0101382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	0.0013245	0.0037	0.0006	0.0010	0	0	0.0040	0.0079	0.0105	0.0020116	311	154602	rs139443648	0.0024	0.0024	0.0023	0.0025	0.0142	0.0023	0.0023	0.0113	0.0102	0.0002	0.0021	0.0020	0	5.074e-05	0.0142	0.0023	0.0027	0.0065	0.0022	0.0022	0.0021	0.0022	0.0062	0.0019	0.0019	0.0046	0.0042	0.0003	0	0.0058	0.0023	0	0	0.0047	0.0027	0.0039	0.0062	0.329	0.13175	T	0.545	0.09588	T	0.012	0.16265	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.07	0.03033	T	-0.66	0.19085	N	0.041	0.01421	-0.8946	0.48521	T	0.005	0.01761	T	8	0.006348878	0.00143	T	.	.	.	0.023	0.04649	.	.	0.0401082797425	0.02173	0.01917039542671657	0.01871	.	.	0.492900371552	0.37841	T	0.004114	0.03522	T	-0.81659	0.00006	T	-0.942583	0.00286	T	0.00239010341465473	0.00025	T	0.230377	0.03106	T	0.084212095	0.19481	0.12148678	0.29312	0.084212095	0.19480	0.12148678	0.29311	-6.287	0.48619	T	.	.	0.806	0.77589	P	.	.	0.291508	0.06680	3.180	0.28806100477940155	0.01497	0.00185	0.01079	N	AEFBCI	.	.	.	.	.	.	.	.	.	9.22317778584206E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.895000	0.04226	.	.	-3.646000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3347:0.0:0.6653	3.636	0.07689	987	0.02648	.	.	.	.	.	.	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	0.009682	0.013793	0.005566	0.003953	0.000000	0.011765	0.008850	0.026316	0.2222	8657.98	35	chrX	141905868	.	T	C	8657.98	.	AC=4;AF=0.222;AN=18;DP=923;ExcessHet=0;FS=0;InbreedingCoeff=0.8566;MLEAC=4;MLEAF=0.222;MQ=59.94;QD=32.31;SOR=1.016	GT:AD:DP:GQ:PL	1/1:0,170:170:99:5460,510,0	7	2	0	1
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	28567.8	36	chrX	141906385	.	C	*	28567.8	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.664;DP=1477;ExcessHet=0;FS=0;InbreedingCoeff=0.9267;MLEAC=2;MLEAF=0.111;MQ=56.79;MQRankSum=2.21;QD=27.47;ReadPosRankSum=1.45;SOR=0.224	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,135:135:99:.:.:5720,464,0:.	8	1	0	1
chrY	9467257	9467257	G	A	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.G257A:p.R86Q,TSPY1:NM_003308:exon1:c.G257A:p.R86Q	.	1147	333	32	10	0	52	0.0724234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	.	.	0.1667	.	.	0	.	.	.	0.2	3.84e-05	1	26028	rs777840135	0.0001	0.0005	.	0.0001	0.0011	9.158e-05	8.115e-05	0.0007	0.0006	0	0	0	0	0.0001	0	6.671e-05	8.002e-05	0.0011	3.003e-05	0.0002	.	3.003e-05	0.0007	0	0	.	.	0	0	0	0	0.0007	0	0	0	0	0	0.413	0.10052	T	0.586	0.15059	T	0.942	0.58077	P	0.102	0.43842	B	.	.	.	.	.	.	.	1.24	0.30952	L	1.55	0.29866	T	0.29	0.04161	N	0.051	0.04790	-1.0424	0.16592	T	0.020	0.08500	T	5	0.0024063885	0.00036	T	.	.	.	0.052	0.14661	.	.	0.15556083564	0.15200	0.056038622022919246	0.05544	.	.	.	.	.	0.009498	0.08644	T	-0.450626	0.01120	T	-0.885069	0.00613	T	0.039082858610258	0.03525	T	0.458954	0.13262	T	0.09309585	0.21857	0.15247531	0.35872	0.09309585	0.21857	0.15247531	0.35871	-3.152	0.11903	T	.	.	0.072	0.09578	B	.;.	.;.	0.182618	0.05701	2.146	0.81828080224814892	0.13880	0.00167	0.00991	N	AEF	.	.	.	.	.	.	.	.	.	1.11426519872457E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.090000	0.11129	.	.	0.221000	0.18078	0.946000	0.32893	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	179.62	.	chrY	9467257	.	G	A	179.62	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.98;DP=81;ExcessHet=0.3476;FS=3.14;MLEAC=3;MLEAF=0.214;MQ=35.37;MQRankSum=-0.493;QD=10.57;ReadPosRankSum=0.366;SOR=2.093	GT:AD:DP:GQ:PL	0/1:2,5:7:42:155,0,42	5	0	2	3