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	NSWES983	WT	HH	HZ	NC
chr1	951153	951153	T	C	exonic	NOC2L	.	nonsynonymous SNV	NOC2L:NM_015658:exon12:c.A1417G:p.I473V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.014283643875	.	.	0.0002	0.0003	0.0005	0	0	0	0	0.0007	6.47e-05	10	154602	rs749112228	4.518e-05	4.652e-05	2.206e-05	6.871e-05	0.0008	3.633e-05	3.31e-05	0.0006	0.0006	0	2.383e-05	0	0	0	0	0	1.682e-05	0.0008	3.942e-05	3.937e-05	0	8.063e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.462	0.08685	T	0.27	0.22359	T	0.178	0.28960	B	0.078	0.28627	B	0.000471	0.44119	D	0.155671	0.997646	0.44063	D	1.89	0.50145	L	0.3	0.58755	T	-0.67	0.19297	N	0.171	0.18239	-1.0593	0.11931	T	0.129	0.43767	T	10	0.21554106	0.38109	T	0.014284	0.34290	T	0.067	0.19503	0.793	0.91438	0.409937222855	0.40610	0.39722226667206123	0.39637	.	.	0.453954160213	0.32485	T	0.080303	0.36332	T	-0.372072	0.03491	T	-0.43384	0.29499	T	0.0226354392429315	0.00980	T	0.79622	0.43953	T	0.022937384	0.00993	0.038632374	0.03776	0.022937384	0.00993	0.038632374	0.03776	-5.199	0.38931	T	.	.	0.120	0.24934	B	.	.	1.561344	0.19999	14.54	0.77518940445423035	0.11910	0.85979	0.45178	D	AEFBCI	0.170903	0.29784	N	-0.481178079148138	0.22698	1.213828	-0.432157635811197	0.24059	1.315418	0.234813262985706	0.18506	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.91	1.45	0.21708	2.212000	0.42474	.	.	-0.120000	0.14102	1.000000	0.71638	0.985000	0.30750	0.169000	0.20946	0.0:0.1796:0.0:0.8204	7.876	0.28755	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	631.63	42	chr1	951153	.	T	C	631.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.264;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-0.606;SOR=0.638	GT:AD:DP:GQ:PL	0/1:42,30:72:99:642,0,1081	6	0	1	0
chr1	1214100	1214100	G	A	exonic	TNFRSF4	.	nonsynonymous SNV	TNFRSF4:NM_003327:exon1:c.C28T:p.R10C	.	377	1075	66	4	0	74	0.0332734	.	.	.	447262	Combined_immunodeficiency_due_to_OX40_deficiency|TNFRSF4-related_disorder|not_provided	MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593,Orphanet:431149|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0053	0.00519169	0.0151	0.0038	0.0060	0	0.0120	0.0141	0.0087	0.0318	0.0070504	1090	154602	rs35304565	0.0080	0.0080	0.0075	0.0085	0.0244	0.0079	0.0078	0.0235	0.0231	0.0015	0.0033	0.0093	5.145e-05	0.0058	0.0213	0.0074	0.0088	0.0244	0.0053	0.0053	0.0053	0.0052	0.0193	0.0050	0.0048	0.0161	0.0149	0.0018	0.0011	0.0056	0.0078	0	0.0040	0.0034	0.0068	0.0080	0.0193	0.007	0.59928	D	0.011	0.64786	D	0.981	0.59675	D	0.265	0.39681	B	0.001714	0.00817	N	4.085850	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-2.58	0.55662	D	0.164	0.17278	-0.9026	0.47717	T	0.129	0.43848	T	10	0.0057964325	0.00129	T	.	.	.	0.118	0.32913	.	.	0.623996689363	0.62094	0.8368611785807644	0.83646	0.200386560108	0.22444	0.452319145203	0.32260	T	0.385507	0.74689	T	-0.476144	0.00779	T	-0.4378	0.29056	T	0.016484515701066	0.00413	T	0.526647	0.17353	T	0.17434712	0.38234	0.07939246	0.17868	0.1872518	0.40170	0.064411104	0.12905	-4.77	0.34240	T	.	.	0.341	0.56005	A	.	.	2.123526	0.27030	17.32	0.98421705000658088	0.41288	0.04202	0.09711	N	AEFDBCI	0.094465	0.19100	N	-0.538297404145678	0.20852	1.10236	-0.713258259078068	0.16631	0.8807004	0.999652904049022	0.41424	0.495158	0.18159	0	0.616935	0.53198	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.14	2.21	0.27042	-0.340000	0.07868	-5.498000	0.01697	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1456:0.0:0.8544:0.0	6.235	0.19967	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016871	0.010638	0.015068	0.026316	0.000000	0.034483	0.018868	0.019084	0.07143	809.49	15	chr1	1214100	.	G	A	809.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.451;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.118;SOR=0.625	GT:AD:DP:GQ:PL	0/1:30,35:65:99:820,0,629	6	0	1	0
chr1	1471970	1471970	C	T	exonic	ATAD3B	.	nonsynonymous SNV	ATAD3B:NM_031921:exon1:c.C86T:p.A29V	.	436	1076	10	0	0	10	0.00462535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.968090006135	.	0.000599042	0	0	0	0	0	0	0	0	0.0002305	6	26028	rs533360758	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0002	0.0047	0.0044	0	0.0002	0.0013	7.928e-05	5.944e-05	0.0017	3.906e-05	0.0007	0.0056	0.0004	0.0004	0.0003	0.0004	0.0059	0.0003	0.0003	0.0042	0.0036	2.428e-05	0	0.0001	0.0012	0.0014	0.0003	0	0.0001	0.0005	0.0059	0.16	0.23721	T	0.22	0.25907	T	0.011	0.15914	B	0.006	0.12133	B	0.363350	0.13636	N	0.714308	1	0.81001	D	1.5	0.37844	L	-2.26	0.87352	D	-1.21	0.30762	N	0.037	0.01135	-0.4664	0.69851	T	0.487	0.80446	T	10	0.053041577	0.05431	T	0.96809	0.99802	D	0.196	0.47777	0.137	0.04097	0.447803500395	0.44404	0.05428869536056328	0.05370	1.29910713327	0.82968	0.839954972267	0.88088	D	0.011854	0.10516	T	-0.0992011	0.36555	T	-0.380272	0.35689	T	0.100716508924961	0.12435	T	0.783822	0.42110	T	0.0576177	0.11489	0.045056257	0.05978	0.0576177	0.11488	0.045056257	0.05978	-4.758	0.34098	T	.	.	0.1	0.17146	B	.	.	1.809160	0.22993	15.84	0.99266306770050239	0.57390	0.71212	0.34916	D	AEFDGBCI	0.114216	0.22505	N	-0.550149059053511	0.20479	1.079861	-0.522708495877164	0.21537	1.165564	0.999999596573388	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	2.65	0.338	0.15214	0.020000	0.13359	0.677000	0.20646	0.441000	0.21086	0.001000	0.13787	0.116000	0.22850	0.008000	0.08271	0.0:0.5727:0.4273:0.0	9.830	0.40103	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001718	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	412.64	12	chr1	1471970	.	C	T	412.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.411;DP=128;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.11;MQRankSum=-5.029;QD=12.89;ReadPosRankSum=-0.331;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,12:32:99:0|1:1471970_C_T:423,0,728:1471970	6	0	1	0
chr1	3836493	3836493	A	C	splicing	CEP104	NM_014704:exon10:c.1317+2T>G	.	.	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.96	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735e-05	6.102e-05	3.846e-05	3.617e-05	0.0004	2.688e-05	2.371e-05	0.0002	0.0002	7.327e-05	7.78e-05	0.0003	0	0	0	1.969e-05	5.547e-05	0.0004	5.197e-05	0.0006	0.0001	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.591722	0.72633	25.9	0.99213772171432246	0.55685	0.99525	0.97065	D	AEFDBI	.	.	.	1.04252772716544	0.96910	15.31459	0.857870838013166	0.93466	12.06219	0.999999134379761	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.060301	0.00762	0	0.117559	0.03655	0	0.948117	0.61440	5.68	5.68	0.88021	8.725000	0.91200	10.879000	0.84044	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	15.110	0.72020	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	102.52	23	chr1	3836493	.	A	C	102.52	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.415;DP=175;ExcessHet=0.3476;FS=8.097;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.31;ReadPosRankSum=1.76;SOR=2.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,4:47:17:.:.:17,0,1149:.	3	0	2	2
chr1	5874527	5874527	C	T	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_001291594:exon18:c.G1639A:p.A547T,NPHP4:NM_001291593:exon19:c.G1636A:p.A546T,NPHP4:NM_015102:exon22:c.G3175A:p.A1059T	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	493743	Nephronophthisis|not_provided|NPHP4-related_disorder|Nephronophthisis_4|Senior-Loken_syndrome_4	Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:C3661900|MedGen:CN239384|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.054	0.0337703547956	7.9e-05	0.000199681	0.0009	0	0.0013	0	0	0.0013	0	0.0007	0.000304	47	154602	rs202004152	0.0005	0.0005	0.0004	0.0005	0.0009	0.0004	0.0004	0.0008	0.0007	0.0001	0.0002	0	2.6e-05	3.901e-05	0	0.0005	0.0004	0.0009	0.0003	0.0003	0.0002	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	7.218e-05	0	0.0001	0	0.0002	0	0	0.0004	0.0005	0.0023	0.105	0.29823	T	0.086	0.40909	T	0.067	0.23653	B	0.016	0.17743	B	0.039270	0.24189	N	0.385420	0.908755	0.27552	N	1.2	0.30300	L	-0.56	0.71187	T	-0.64	0.18670	N	0.178	0.19190	-0.7399	0.58457	T	0.236	0.60270	T	10	0.01597032	0.00336	T	0.03377	0.55213	D	0.054	0.15330	.	.	0.692139028704	0.68949	0.5422276102465641	0.54147	0.0648658095776	0.07242	0.267917722464	0.05871	T	0.137384	0.47029	T	-0.451848	0.01102	T	-0.472265	0.25272	T	0.0133811253446443	0.00242	T	0.709329	0.31993	T	0.02718052	0.01873	0.05809837	0.10678	0.02718052	0.01873	0.05809837	0.10677	-8.116	0.61859	D	0.3363155950039433	0.43422	0.086	0.10642	B	.	.	1.663524	0.21216	15.10	0.99640598785102441	0.76633	0.35509	0.25318	N	AEFDBI	0.100713	0.20244	N	-0.363390326333374	0.26783	1.464387	-0.296045332797433	0.28228	1.572258	0.863116193904333	0.25265	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	5.38	2.47	0.29113	0.501000	0.22286	-0.274000	0.10324	-0.171000	0.11205	0.057000	0.21666	0.000000	0.08366	0.957000	0.51019	0.0:0.7833:0.0:0.2167	9.953	0.40817	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1002.27	37	chr1	5874527	.	C	T	1002.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.76;DP=258;ExcessHet=0;FS=2.968;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.644;SOR=1.01	GT:AD:DP:GQ:PL	0/1:43,38:81:99:1012,0,961	5	0	1	1
chr1	6146240	6146240	T	A	exonic	CHD5	.	nonsynonymous SNV	CHD5:NM_015557:exon11:c.A1774T:p.M592L	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00670068053859	.	.	2.473e-05	0	0	0	0	1.5e-05	0	0.0001	1.94e-05	3	154602	rs760587600	8.893e-06	8.893e-06	5.445e-06	1.238e-05	0.0002	4.96e-06	3.82e-06	8.886e-05	7.054e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.754	0.03544	T	0.901	0.03039	T	0.001	0.07471	B	0.002	0.06944	B	0.000002	0.62929	D	0.055727	0.999885	0.81001	D	0.055	0.08163	N	-0.49	0.70365	T	-1.24	0.31375	N	0.432	0.47115	-0.9420	0.42298	T	0.155	0.48687	T	10	0.15288624	0.28869	T	0.006701	0.17699	T	0.140	0.37593	0.572	0.69564	0.379559396232	0.37572	0.6884269438221391	0.68782	0.417224693402	0.42347	0.681634664536	0.64504	T	0.056186	0.30216	T	-0.196557	0.21303	T	-0.283448	0.46450	T	0.125032240497914	0.14915	T	0.947205	0.79675	D	0.44296312	0.63593	0.18470508	0.41539	0.44296312	0.63594	0.18470508	0.41538	-4.417	0.29786	T	.	.	0.160	0.35331	B	.	.	3.506508	0.49089	22.7	0.9150130679260019	0.20775	0.97683	0.76388	D	AEFDGBIJ	0.731842	0.67879	D	-0.422579949557253	0.24680	1.334311	-0.235092807736645	0.30287	1.704062	0.999999899823363	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.85	3.85	0.43556	3.968000	0.56516	5.001000	0.46597	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.098	0.58618	845	0.36510	Chromo/chromo shadow domain|Chromo/chromo shadow domain|Chromo/chromo shadow 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	1216.53	33	chr1	6146240	.	T	A	1216.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.154;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.795;SOR=0.643	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1227,0,1333	6	0	1	0
chr1	6471505	6471505	G	A	exonic	PLEKHG5	.	nonsynonymous SNV	PLEKHG5:NM_001042664:exon12:c.C1264T:p.L422F,PLEKHG5:NM_001042665:exon12:c.C1264T:p.L422F,PLEKHG5:NM_001265593:exon12:c.C1471T:p.L491F,PLEKHG5:NM_001265594:exon12:c.C1264T:p.L422F,PLEKHG5:NM_020631:exon12:c.C1264T:p.L422F,PLEKHG5:NM_001042663:exon13:c.C1375T:p.L459F,PLEKHG5:NM_001265592:exon13:c.C1375T:p.L459F,PLEKHG5:NM_198681:exon13:c.C1264T:p.L422F	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	557417	Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_recessive_intermediate_C|Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_4	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014154,MedGen:C3809309,OMIM:615376,Orphanet:369867|MONDO:MONDO:0012608,MedGen:C1970211,OMIM:611067,Orphanet:206580	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.0777517441959	.	.	8.065e-05	0	0	0	0	0	0.0015	0.0005	5.17e-05	8	154602	rs779799130	4.183e-05	4.173e-05	2.456e-05	5.927e-05	0.0004	3.318e-05	3.008e-05	0.0003	0.0002	0	0	0	0	0	0	2.43e-05	3.324e-05	0.0004	2.626e-05	2.625e-05	0	5.371e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.416	0.09958	T	0.172	0.30241	T	0.009	0.15093	B	0.009	0.16460	B	0.001457	0.38980	N	0.277748	0.869665	0.30471	N	2.23	0.63091	M	0.49	0.55775	T	-1.68	0.40082	N	0.334	0.39153	-0.9990	0.30199	T	0.114	0.40536	T	10	0.096847	0.17399	T	0.077752	0.72844	D	0.053	0.14996	.	.	0.339074221408	0.33521	0.46468038131333417	0.46387	0.281092337101	0.30582	0.49745631218	0.38474	T	0.151105	0.49089	T	-0.31159	0.07608	T	-0.374836	0.36325	T	0.0998476181162367	0.12341	T	0.760024	0.38453	T	0.10692921	0.25284	0.11818776	0.28530	0.10692921	0.25284	0.11818776	0.28529	-8.728	0.66810	D	0.5702488985923231	0.63746	0.167	0.36850	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.992076	0.39950	21.1	0.97091630110879024	0.32328	0.90362	0.51477	D	AEFDBHCI	0.493877	0.52991	N	-0.33493887278869	0.27829	1.53004	-0.200638339402338	0.31514	1.784195	0.999999999990335	0.74766	0.72623	0.87236	0	0.610034	0.51514	0	0.594344	0.31042	0	0.711	0.71501	0	.	.	5.1	2.96	0.33383	3.636000	0.54058	5.519000	0.48817	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0882:0.0:0.7663:0.1456	8.693	0.33439	835	0.38313	.;.;.;.;.;.;.;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2934.63	35	chr1	6471505	.	G	A	2934.63	.	AC=2;AF=0.143;AN=14;DP=274;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.95;SOR=0.82	GT:AD:DP:GQ:PL	1/1:0,98:98:99:2955,294,0	6	1	0	0
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	.	.	.	.	.	.	.	.	0.2857	4345.04	146	chr1	10326244	.	G	C	4345.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-6.673;DP=888;ExcessHet=2.5225;FS=260.179;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=6.37;ReadPosRankSum=1.09;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,29:174:99:.:.:1134,0,4579:.	3	0	4	0
chr1	12879689	12879689	C	T	exonic	PRAMEF4	.	nonsynonymous SNV	PRAMEF4:NM_001009611:exon4:c.G1292A:p.S431N	.	.	.	.	.	.	.	.	.	.	.	2356868	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000862340327512	.	.	9.409e-05	0.0001	0.0003	0.0001	0	7.771e-05	0	6.109e-05	0.0008452	22	26028	rs76993476	2.889e-05	6.717e-05	3.148e-05	2.627e-05	0.0003	2.163e-05	1.918e-05	0.0001	0.0001	0	0.0003	0.0003	7.589e-05	0	0	1.444e-05	5.004e-05	0	6.087e-05	0.0001	5.27e-05	6.95e-05	0.0002	3.159e-05	2.369e-05	4.95e-06	1.85e-06	0	0	0	0.0012	0	0	0	2.982e-05	0.0010	0.0002	0.188	0.21304	T	0.364	0.16766	T	0.554	0.38213	P	0.234	0.38393	B	0.052209	0.02034	N	2.012350	1	0.08975	N	1.85	0.49092	L	2.68	0.12371	T	-0.72	0.20358	N	0.056	0.02759	-1.0344	0.19046	T	0.026	0.11131	T	10	0.08628282	0.14650	T	8.62E-4	0.00755	T	0.027	0.05988	.	.	0.0611884634855	0.05136	0.08928834406147412	0.08861	1.49514861928	0.86947	0.665681421757	0.62221	T	0.00364	0.03050	T	-0.317267	0.07125	T	-0.693508	0.06189	T	0.00827460199046886	0.00099	T	.	.	.	0.0330104	0.03435	0.07514117	0.16512	0.0330104	0.03435	0.07514117	0.16511	-2.083	0.03512	T	.	.	0.081	0.08272	B	.	.	1.093112	0.14769	11.31	0.83550136710279943	0.14787	0.00164	0.00976	N	AEFI	0.018662	0.00583	N	-1.09459554305759	0.06742	0.3112346	-1.2632279311592	0.04937	0.234126	1.18647913859287E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-0.645	0.10899	0.291000	0.18748	-20.000000	0.00162	-0.395000	0.05324	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.4932:0.0:0.5068	3.917	0.08726	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001174	0.000000	0.002747	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	248.44	34	chr1	12879689	.	C	T	248.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.534;DP=509;ExcessHet=0;FS=40.181;MLEAC=1;MLEAF=0.071;MQ=51.34;MQRankSum=-8.641;QD=0.78;ReadPosRankSum=2.98;SOR=1.808	GT:AD:DP:GQ:PL	0/1:277,42:319:99:259,0,7814	6	0	1	0
chr1	13049870	13049870	T	A	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon4:c.A1375T:p.N459Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	.	4.964e-05	9.692e-05	0	0	0	0	0	0.0003	0.0002305	6	26028	.	3.592e-05	0.0001	2.736e-05	4.458e-05	0.0003	2.768e-05	2.481e-05	0.0002	0.0001	0.0001	0	4.166e-05	5.868e-05	0	0	2.156e-05	3.75e-05	0.0003	9.291e-06	5.01e-05	1.805e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.095	0.07535	-1.0527	0.13655	T	0.064	0.26527	T	6	0.04685524	0.03928	T	.	.	.	0.014	0.01968	.	.	0.176091768786	0.17195	0.1967050569138952	0.19587	.	.	.	.	.	0.001229	0.00717	T	-0.350458	0.04699	T	-0.741185	0.03841	T	0.0456390774424677	0.04719	T	.	.	.	0.019250799	0.00453	0.040164918	0.04279	0.019250799	0.00453	0.040164918	0.04279	-3.243	0.13013	T	.	.	0.043	0.00027	B	.	.	0.242944	0.06227	2.682	0.41728806564319604	0.03029	0.00057	0.00426	N	AEFI	0.012691	0.00145	N	-1.5239705724697	0.01693	0.07409056	-1.75963068880506	0.00897	0.04012837	8.07842788249064E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.220000	0.09220	-15.477000	0.00355	-0.600000	0.04616	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.4341:0.1749:0.2152:0.1758	0.722	0.00882	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	792.84	33	chr1	13049870	.	T	A	792.84	.	AC=2;AF=0.2;AN=10;DP=130;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=32.83;QD=33.24;SOR=4.407	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,18:18:54:1|1:13049870_T_A:810,54,0:13049870	4	1	0	2
chr1	13049875	13049875	A	G	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon4:c.T1370C:p.I457T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	.	.	4.962e-05	9.682e-05	0	0	0	0	0	0.0003	3.84e-05	1	26028	.	6.803e-05	0.0001	4.56e-05	9.071e-05	0.0006	5.618e-05	5.219e-05	0.0004	0.0004	0.0002	5.074e-05	4.167e-05	0.0001	0	0	3.529e-05	3.751e-05	0.0006	9.238e-06	6.68e-05	1.797e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.981	0.02417	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.07	0.04307	-1.0055	0.28307	T	0.032	0.13767	T	6	0.060101748	0.07328	T	.	.	.	0.060	0.17295	.	.	0.0297737177859	0.01360	0.32314729391047886	0.32227	.	.	.	.	.	0.004221	0.03630	T	-0.393477	0.02554	T	-0.802979	0.01829	T	0.0513792235589206	0.05741	T	.	.	.	0.022960458	0.00997	0.046127893	0.06359	0.022960458	0.00996	0.046127893	0.06359	-1.411	0.01591	T	.	.	0.044	0.00040	B	.	.	-0.439474	0.02069	0.191	0.50756652927482537	0.04440	0.00004	0.00092	N	AEFI	0.010657	0.00080	N	-1.12740195868905	0.06160	0.2828157	-1.31428877448842	0.04245	0.1998044	1.1618920056864E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	0.388	0.15489	-0.927000	0.04092	-11.787000	0.00575	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2075:0.0:0.4897:0.3028	2.141	0.03545	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	1124.84	33	chr1	13049875	.	A	G	1124.84	.	AC=2;AF=0.2;AN=10;DP=139;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=32.42;QD=33.86;SOR=4.332	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,27:27:81:1|1:13049870_T_A:1142,81,0:13049870	4	1	0	2
chr1	13049883	13049883	A	C	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon4:c.T1362G:p.F454L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.00119808	0.0006	0.0033	0.0004	0.0022	0.0002	0.0002	0	0.0003	0.000461	12	26028	rs1394611558	0.0001	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0006	0.0005	0.0005	7.611e-05	0	8.804e-05	1.989e-05	0	9.902e-05	3.752e-05	0.0008	0.0001	0.0002	0.0001	7.555e-05	0.0003	6.263e-05	4.927e-05	9.396e-05	5.601e-05	0.0003	0	8.26e-05	0	0	0	0	0.0001	0	0	.	.	.	0.362	0.16865	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.049	0.02088	-1.0511	0.14092	T	0.037	0.15770	T	6	0.007304162	0.00166	T	.	.	.	0.026	0.05648	.	.	0.0138822411134	0.00435	0.3071909890723261	0.30632	.	.	.	.	.	0.032979	0.22720	T	-0.411575	0.01940	T	-0.828975	0.01280	T	0.00439892827759842	0.00047	T	.	.	.	0.038286895	0.05073	0.049255114	0.07489	0.038286895	0.05073	0.049255114	0.07489	-3.673	0.18920	T	.	.	0.267	0.50157	B	.	.	0.277747	0.06548	3.034	0.59263002692154654	0.06183	0.00004	0.00092	N	AEFI	0.014546	0.00236	N	-1.68379074353803	0.00901	0.03898476	-1.90980006477675	0.00468	0.02073268	0.0019344774255762	0.09019	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.914000	0.04146	-12.701000	0.00506	-0.755000	0.03551	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5082:0.2068:0.0:0.2851	3.178	0.06181	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	1443.84	33	chr1	13049883	.	A	C	1443.84	.	AC=2;AF=0.2;AN=10;DP=156;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=33.9;QD=28.28;SOR=3.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,37:37:99:1|1:13049870_T_A:1461,111,0:13049870	4	1	0	2
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.4286	15251.5	646	chr1	16564107	.	T	G	15251.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.876;DP=3869;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=55.69;MQRankSum=3.18;QD=4.75;ReadPosRankSum=1.46;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:483,219:702:99:0|1:16564103_T_A:7640,0,19492:16564103	1	0	6	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	26158.1	476	chr1	16564144	.	C	T	26158.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.919;DP=3008;ExcessHet=14.2834;FS=3.476;MLEAC=7;MLEAF=0.5;MQ=52.79;MQRankSum=-17.02;QD=8.98;ReadPosRankSum=0.726;SOR=0.923	GT:AD:DP:GQ:PL	0/1:364,137:501:99:2946,0,12011	0	0	7	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	19289.1	458	chr1	16564149	.	C	T	19289.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.453;DP=2860;ExcessHet=14.2834;FS=1.998;MLEAC=7;MLEAF=0.5;MQ=52.6;MQRankSum=6.43;QD=6.88;ReadPosRankSum=-0.812;SOR=0.526	GT:AD:DP:GQ:PL	0/1:325,159:484:99:3473,0,10550	0	0	7	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.2143	2131.72	101	chr1	16567226	.	A	C	2131.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.974;DP=2770;ExcessHet=1.1394;FS=0.773;MLEAC=3;MLEAF=0.214;MQ=58.09;MQRankSum=-2.042;QD=1.23;ReadPosRankSum=0.017;SOR=0.653	GT:AD:DP:GQ:PL	0/1:1105,124:1229:99:121,0,28865	4	0	3	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.2857	4008.13	353	chr1	16569091	.	T	C	4008.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.173;DP=1782;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=43.63;MQRankSum=-1.456;QD=3.26;ReadPosRankSum=0.533;SOR=0.69	GT:AD:DP:GQ:PL	0/1:362,142:504:99:2284,0,8751	3	0	4	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	627.36	36	chr1	16579293	.	A	G	627.36	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.692;DP=253;ExcessHet=4.7409;FS=122.377;MLEAC=5;MLEAF=0.357;MQ=35.32;MQRankSum=0.416;QD=3.18;ReadPosRankSum=-1.736;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,4:32:70:0|1:16579293_A_G:70,0,1138:16579293	2	0	5	0
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3571	627.36	36	chr1	16579294	.	T	C	627.36	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-3.374;DP=253;ExcessHet=4.7409;FS=122.377;MLEAC=5;MLEAF=0.357;MQ=35.27;MQRankSum=0.416;QD=3.18;ReadPosRankSum=-1.762;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,4:32:70:0|1:16579293_A_G:70,0,1138:16579293	2	0	5	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	2070.98	13	chr1	16759590	.	G	GC	2070.98	.	AC=8;AF=0.571;AN=14;BaseQRankSum=5.81;DP=263;ExcessHet=0.0509;FS=7.311;MLEAC=8;MLEAF=0.571;MQ=43.96;MQRankSum=-0.716;QD=10.57;ReadPosRankSum=-3.26;SOR=0.626	GT:AD:DP:GQ:PL	1/1:0,19:19:57:656,57,0	2	3	2	0
chr1	20323486	20323486	T	C	exonic	VWA5B1	.	nonsynonymous SNV	VWA5B1:NM_001039500:exon8:c.T1097C:p.I366T,VWA5B1:NM_001377531:exon8:c.T782C:p.I261T	.	426	1058	38	0	0	38	0.0176416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	.	0.0007	0.00299521	0.0070	0	0.0054	0	0	0.0015	0.0045	0.0195	0.0011319	175	154602	rs201370343	0.0013	0.0013	0.0009	0.0018	0.0155	0.0013	0.0013	0.0147	0.0144	0.0002	0.0006	0.0018	2.981e-05	2.044e-05	0.0092	0.0004	0.0019	0.0155	0.0009	0.0009	0.0004	0.0013	0.0162	0.0008	0.0007	0.0133	0.0122	4.813e-05	0	0.0012	0.0020	0	9.413e-05	0.0102	0.0004	0	0.0162	0.004	0.65419	D	0.003	0.76473	D	0.998	0.73220	D	0.983	0.75793	D	0.136158	0.18456	N	0.577246	0.977751	0.39397	D	3.495	0.92709	M	2.27	0.17431	T	-3.65	0.69950	D	0.831	0.83371	-0.7681	0.56962	T	0.151	0.47909	T	10	0.017407864	0.00371	T	.	.	.	0.279	0.59619	.	.	0.194818534648	0.19098	0.6890989978460175	0.68849	.	.	0.417895138264	0.27547	T	0.207884	0.56765	T	-0.243124	0.14954	T	-0.109033	0.62689	T	0.119954450924033	0.14425	T	0.884312	0.60710	D	0.43381843	0.63001	0.47718886	0.69710	0.43381843	0.63002	0.47718886	0.69711	-10.769	0.78471	D	.	.	0.221	0.48664	B	.;.	.;.	4.562828	0.71921	25.7	0.99806278955853256	0.89085	0.96560	0.69751	D	AEFDBHCIJ	0.834283	0.75235	D	0.596985983387991	0.72985	5.892872	0.541148797261749	0.70784	5.556301	0.999999999999452	0.74766	0.608966	0.35542	0	0.681609	0.65952	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.44	5.44	0.79348	7.273000	0.77921	7.906000	0.73790	0.665000	0.62972	0.972000	0.34453	0.994000	0.32194	0.983000	0.59808	0.0:0.0:0.0:1.0	14.306	0.65941	917	0.20147	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005995	0.000000	0.000000	0.004310	0.000000	0.000000	0.011111	0.012500	0.07143	1235.83	34	chr1	20323486	.	T	C	1235.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.461;DP=286;ExcessHet=0;FS=0.798;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.579;SOR=0.559	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1246,0,1330	6	0	1	0
chr1	21823354	21823354	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon97:c.G13141A:p.A4381T,HSPG2:NM_005529:exon97:c.G13138A:p.A4380T	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1388111	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.338	0.0645309682787	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779453903	2.299e-05	2.463e-05	2.981e-05	1.6e-05	0.0018	1.664e-05	1.424e-05	0.0010	0.0007	3.144e-05	0	0	0	0	0.0018	1.851e-05	0	1.255e-05	1.971e-05	1.97e-05	3.853e-05	0	6.54e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	6.54e-05	0	0	0	0	0	0	0	0.01	0.56456	D	0.004	0.74150	D	0.872	0.47902	P	0.131	0.32951	B	0.044685	0.23612	N	0.210372	0.999162	0.81001	D	3.1	0.87590	M	-1.07	0.76948	T	-2.3	0.51157	N	0.091	0.06990	0.118	0.84500	D	0.451	0.78544	T	10	0.33827764	0.50936	T	0.064531	0.69306	D	0.338	0.66010	0.239	0.17065	0.765113227815	0.76296	0.532719165393787	0.53196	0.2272339627	0.25277	0.590712726116	0.51595	T	0.697616	0.91264	D	0.0223543	0.54700	T	-0.205666	0.54109	T	0.83736127614975	0.49113	D	0.743326	0.36245	T	0.26864013	0.49936	0.18401366	0.41427	0.26864013	0.49936	0.18401366	0.41426	-4.628	0.32521	T	.	.	0.102	0.18037	B	.	.	3.323046	0.45711	22.2	0.99808780497836147	0.89264	0.93528	0.58462	D	AEFDBCI	0.572878	0.57628	D	0.477745354572165	0.65793	4.867377	0.487605171154779	0.67169	5.047997	0.999999999998529	0.74766	0.67177	0.52595	0	0.633656	0.55848	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	4.185000	0.58128	1.271000	0.25291	0.599000	0.40250	0.999000	0.42656	0.703000	0.26245	0.836000	0.39433	0.0:1.0:0.0:0.0	16.261	0.82373	861	0.33516	Laminin G 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	.	.	.	.	.	.	.	.	0.08333	802.27	30	chr1	21823354	.	C	T	802.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.922;DP=206;ExcessHet=0;FS=2.387;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=1.25;SOR=0.399	GT:AD:DP:GQ:PL	0/1:21,35:56:99:812,0,458	5	0	1	1
chr1	21875656	21875656	G	A	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon25:c.C3278T:p.S1093F,HSPG2:NM_005529:exon25:c.C3275T:p.S1092F	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	4007259	Schwartz-Jampel_syndrome_type_1|Lethal_Kniest-like_syndrome	MONDO:MONDO:0100435,MedGen:C4551479,OMIM:255800|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.482	0.0341689414806	.	.	8.257e-05	0	0	0	0	3.005e-05	0	0.0005	6.47e-05	10	154602	rs766686915	4.964e-05	4.994e-05	1.373e-05	8.587e-05	0.0008	4.024e-05	3.698e-05	0.0006	0.0006	0	0	0	0	0	0.0005	1.799e-06	3.315e-05	0.0008	3.282e-05	3.281e-05	0	6.713e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.002	0.72154	D	0.001	0.83351	D	0.999	0.77913	D	0.985	0.76457	D	0.001347	0.39310	N	0.000000	0.999843	0.49770	D	2.99	0.85699	M	1.11	0.38883	T	-3.7	0.70553	D	0.649	0.66016	-0.5657	0.66185	T	0.260	0.63055	T	10	0.82765937	0.81939	D	0.034169	0.55491	D	0.482	0.77206	0.76	0.88892	0.646850752827	0.64392	0.4483332132040094	0.44751	0.715118187512	0.61921	0.399305522442	0.24972	T	0.388358	0.74905	T	-0.193893	0.21688	T	-0.18833	0.55746	T	0.741529941558838	0.42819	D	0.793521	0.43550	T	0.35993147	0.57831	0.41163176	0.65389	0.35993147	0.57831	0.41163176	0.65389	-9.225	0.69134	D	.	.	0.620	0.69706	P	.	.	3.956886	0.58003	23.9	0.99767927926167632	0.85666	0.96637	0.70145	D	AEFDBCI	0.808694	0.73240	D	0.590210551267447	0.72562	5.825491	0.506976572858834	0.68460	5.222877	0.999999255203973	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.44	5.44	0.79348	6.064000	0.70804	9.924000	0.82528	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.129000	0.19529	0.0:0.0:1.0:0.0	16.748	0.85340	800	0.44535	Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	963.46	35	chr1	21875656	.	G	A	963.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.728;DP=265;ExcessHet=0;FS=2.036;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.499;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,27:80:99:0|1:21875655_G_T:974,0,2124:21875655	6	0	1	0
chr1	23433520	23433520	G	T	exonic	ASAP3	.	nonsynonymous SNV	ASAP3:NM_001143778:exon20:c.C2005A:p.Q669K,ASAP3:NM_017707:exon21:c.C2032A:p.Q678K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00985848883655	0.0005	0.00119808	0.0001	0.0017	0	0	0	0	0	0	0.0001617	25	154602	rs146824903	5.609e-05	5.609e-05	7.078e-05	4.125e-05	0.0015	4.61e-05	4.236e-05	0.0011	0.0010	0.0015	0.0001	0	0	0	0.0002	0	0.0003	8.115e-05	0.0004	0.0004	0.0004	0.0003	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	6.535e-05	0	0	0	0	1.47e-05	0.0005	0	0.152	0.91255	T	0.113	0.92824	T	0.012	0.16265	B	0.005	0.11217	B	0.000185	0.48115	D	0.139269	0.944465	0.27774	N	0.235	0.09667	N	2.07	0.51952	T	-2.13	0.73893	N	0.274	0.39153	-1.0661	0.10293	T	0.042	0.18035	T	10	0.011561334	0.00252	T	0.009858	0.25698	T	0.143	0.38195	.	.	0.327419511103	0.32360	0.7436182616365998	0.74307	0.305292617041	0.32830	0.445156365633	0.31282	T	0.028518	0.52294	T	-0.382039	0.03025	T	-0.346176	0.39643	T	0.0322954799500465	0.02354	T	.	.	.	0.3538234	0.57363	0.19510314	0.43170	0.3538234	0.57363	0.19510314	0.43169	-8.104	0.61778	D	.	.	0.086	0.26886	B	.;.;.;.	.;.;.;.	3.773548	0.54214	23.5	0.98973296322248494	0.49580	0.97830	0.77447	D	AEFDBI	0.744362	0.68737	D	-0.264718569742509	0.30519	1.702552	-0.0275083392927854	0.38477	2.267497	0.969788785490945	0.29156	0.732398	0.92422	0	0.563428	0.19063	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	5.321000	0.65627	8.292000	0.76919	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.8255:0.1745	11.895	0.51932	355	0.85216	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	875.46	33	chr1	23433520	.	G	T	875.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.471;DP=242;ExcessHet=0;FS=3.295;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.117;SOR=0.387	GT:AD:DP:GQ:PL	0/1:32,36:68:99:886,0,777	6	0	1	0
chr1	23874911	23874911	C	T	exonic	CNR2	.	nonsynonymous SNV	CNR2:NM_001841:exon2:c.G707A:p.R236Q	.	.	.	.	.	.	.	.	.	.	.	4121019	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.189	0.0243815532145	.	.	4.141e-05	0	0	0	0	7.519e-05	0	0	4.53e-05	7	154602	rs567833720	3.284e-05	3.283e-05	3.268e-05	3.301e-05	4.048e-05	2.544e-05	2.249e-05	3.085e-05	2.754e-05	0	0	0	2.519e-05	0	0	4.048e-05	1.657e-05	1.16e-05	2.628e-05	2.627e-05	1.284e-05	4.034e-05	4.825e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	0.524	0.07163	T	0.197	0.27855	T	0.58	0.38813	P	0.441	0.45749	B	0.002702	0.36068	N	0.272597	0.97282	0.38976	D	1.27	0.32069	L	-0.6	0.71662	T	-1.15	0.29525	N	0.168	0.17828	-0.6768	0.61520	T	0.297	0.66849	T	10	0.3781267	0.53988	T	0.024382	0.47367	T	0.189	0.46613	0.808	0.92512	0.749819313313	0.74755	0.6149671369410671	0.61428	.	.	0.322503864765	0.13800	T	0.11464	0.43262	T	-0.195716	0.21425	T	-0.388458	0.34731	T	0.213347882168529	0.21127	T	0.750425	0.37198	T	0.47634566	0.65678	0.31348586	0.57345	0.47634566	0.65678	0.31348586	0.57344	-5.142	0.38346	T	.	.	0.095	0.14842	B	.	.	3.188242	0.43307	21.7	0.98874955762860262	0.47719	0.68721	0.33909	D	AEFBHCI	0.265867	0.38290	N	0.132917192869045	0.48004	3.018324	0.250893601122229	0.52702	3.44313	0.999761040491546	0.42728	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.89	5.89	0.94758	1.495000	0.35236	3.967000	0.40794	0.599000	0.40250	0.785000	0.29533	1.000000	0.68203	0.992000	0.67800	0.0:0.9299:0.0:0.0701	14.419	0.66740	643	0.63827	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	.	.	.	.	.	.	.	.	0.07143	1772.44	71	chr1	23874911	.	C	T	1772.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=610;ExcessHet=0;FS=0.604;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.668;SOR=0.598	GT:AD:DP:GQ:PL	0/1:78,72:150:99:1783,0,1826	6	0	1	0
chr1	24128186	24128186	C	A	exonic	IL22RA1	.	nonsynonymous SNV	IL22RA1:NM_021258:exon5:c.G625T:p.A209S	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0097	0.0103834	0.0030	0.0302	0.0011	0	0	0.0002	0	0.0003	0.0027231	421	154602	rs34379702	0.0010	0.0010	0.0011	0.0009	0.0326	0.0009	0.0009	0.0309	0.0303	0.0326	0.0017	0	0	0	0.0016	8.969e-05	0.0026	0.0002	0.0088	0.0088	0.0092	0.0085	0.0303	0.0084	0.0083	0.0289	0.0284	0.0303	0	0.0035	0	0	0	0	0.0002	0.0080	0	1.0	0.00964	T	0.636	0.07059	T	0.0	0.02946	B	0.0	0.01387	B	0.724578	0.06333	N	1.148620	1	0.08975	N	-2.32	0.00092	N	3.26	0.06681	T	0.91	0.01595	N	0.042	0.01498	-0.9877	0.33175	T	0.003	0.00864	T	10	0.0032376647	0.00055	T	.	.	.	0.050	0.13987	.	.	0.130388298395	0.12655	0.3810081129846175	0.38015	0.101196432864	0.11446	0.378151714802	0.21993	T	0.016428	0.13584	T	-0.755356	0.00016	T	-0.835481	0.01169	T	0.00415863761613529	0.00044	T	0.162984	0.01479	T	0.12718405	0.29768	0.13873257	0.33124	0.12718405	0.29768	0.13873257	0.33123	-2.658	0.06957	T	.	.	0.067	0.02342	B	.	.	-0.061661	0.03875	0.843	0.56177987548287278	0.05497	0.00310	0.01640	N	AEFDBHCI	0.026703	0.02051	N	-1.37493766698932	0.02874	0.1275671	-1.28464682679407	0.04637	0.2192043	0.997433903868532	0.35614	0.624846	0.39970	0	0.627178	0.54094	0	0.650271	0.49498	0	0.530356	0.10902	0	.	.	4.91	2.38	0.28415	0.703000	0.25321	3.807000	0.39893	-0.052000	0.16994	0.076000	0.22236	0.995000	0.32472	0.042000	0.14466	0.4798:0.5202:0.0:0.0	10.198	0.42245	440	0.80101	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.025253	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1591.45	34	chr1	24128186	.	C	A	1591.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.937;DP=287;ExcessHet=0;FS=6.047;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.362;SOR=1.249	GT:AD:DP:GQ:PL	0/1:46,65:111:99:1602,0,1123	6	0	1	0
chr1	26170141	26170141	C	T	exonic	ZNF593	.	nonsynonymous SNV	ZNF593:NM_015871:exon1:c.C158T:p.P53L	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	0.0082	0.0123802	0.0053	0.0484	0.0130	0	0	0.0013	0	0.0002	0.0023803	368	154602	rs76775439	0.0014	0.0014	0.0015	0.0013	0.0334	0.0014	0.0013	0.0317	0.0310	0.0334	0.0040	0.0017	0	0	0.0047	0.0004	0.0037	0.0002	0.0094	0.0094	0.0097	0.0091	0.0304	0.0090	0.0088	0.0290	0.0285	0.0304	0	0.0059	0.0017	0	0	0.0034	0.0006	0.0095	0.0002	0.669	0.05076	T	0.648	0.06788	T	0.027	0.19556	B	0.012	0.16012	B	0.001154	0.40056	N	0.261875	0.717837	0.33585	D	0.785	0.19527	N	0.96	0.44461	T	0.87	0.29114	N	0.255	0.28849	-1.0452	0.15767	T	0.011	0.03949	T	10	0.006397307	0.00145	T	.	.	.	0.193	0.47281	.	.	0.272205846399	0.26826	0.586562092368773	0.58586	0.619716322566	0.56308	0.61102449894	0.54461	T	0.008809	0.08886	T	-0.469678	0.00854	T	-0.423751	0.30645	T	0.0137491613762883	0.00258	T	0.794521	0.43681	T	0.039990753	0.05625	0.05376432	0.09118	0.039990753	0.05624	0.05376432	0.09118	-3.536	0.16940	T	.	.	0.118	0.39528	B	.;.	.;.	1.903334	0.24177	16.30	0.87975301653202231	0.17622	0.34110	0.24989	N	ALL	0.154546	0.27959	N	-0.502822710899171	0.21988	1.170947	-0.346871005546974	0.26606	1.470699	0.999999999999984	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.63	4.71	0.59010	1.227000	0.32179	3.977000	0.40873	-0.177000	0.10537	0.831000	0.30147	0.999000	0.35428	0.017000	0.10941	0.1654:0.7512:0.0:0.0834	7.557	0.26996	411	0.82069	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004073	0.021505	0.004098	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	808.63	38	chr1	26170141	.	C	T	808.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.74;DP=272;ExcessHet=0;FS=2.904;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-1.777;SOR=0.404	GT:AD:DP:GQ:PL	0/1:56,34:90:99:819,0,1356	6	0	1	0
chr1	26188770	26188770	A	G	splicing	CNKSR1	NM_001297648:exon20:c.917-2A>G;NM_006314:exon20:c.1691-2A>G;NM_001297647:exon20:c.1712-2A>G	.	.	.	0	1476	43	3	0	49	0.0163279	0.9999	0.93	.	2812492	not_provided|CNKSR1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.00439297	0.0029	0	0.0009	0	0	0.0006	0.0045	0.0180	0.0025032	387	154602	rs144821580	0.0013	0.0013	0.0008	0.0018	0.0165	0.0013	0.0013	0.0158	0.0155	8.982e-05	0.0011	0	0	0	0.0066	0.0003	0.0018	0.0165	0.0010	0.0010	0.0008	0.0012	0.0163	0.0009	0.0008	0.0133	0.0123	0.0002	0	0.0016	0	0	0	0.0068	0.0005	0.0033	0.0163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.270484	0.11703	T	-0.147682	0.59448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.435240	0.90871	32	0.98233952903132682	0.39414	0.89400	0.49842	D	AEFDBI	.	.	.	0.850288485271206	0.89123	9.844409	0.636255273005477	0.77591	6.708883	0.312018463574793	0.19296	0.078448	0.01964	0	0.097471	0.02872	0	0.072005	0.02045	0	0.058706	0.01089	0	0.958536	0.64633	4.77	4.77	0.60425	4.272000	0.58705	7.992000	0.76116	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	1.0:0.0:0.0:0.0	10.84	0.45913	413	0.81939	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	717.53	35	chr1	26188770	.	A	G	717.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.176;DP=243;ExcessHet=0;FS=0.954;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.681;SOR=0.536	GT:AD:DP:GQ:PL	0/1:33,30:63:99:728,0,1005	6	0	1	0
chr1	26188925	26188925	G	A	exonic	CNKSR1	.	nonsynonymous SNV	CNKSR1:NM_001297647:exon20:c.G1865A:p.R622H,CNKSR1:NM_001297648:exon20:c.G1070A:p.R357H,CNKSR1:NM_006314:exon20:c.G1844A:p.R615H	.	0	1516	6	0	0	6	0.00197498	.	.	.	718874	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0085	0.00898562	0.0027	0.0226	0.0044	0	0	0.0005	0.0022	0.0001	0.0026067	403	154602	rs61762998	0.0012	0.0012	0.0013	0.0011	0.0242	0.0012	0.0011	0.0228	0.0222	0.0242	0.0036	0.0016	0	0	0.0045	0.0005	0.0031	0.0002	0.0067	0.0067	0.0069	0.0064	0.0209	0.0063	0.0062	0.0197	0.0193	0.0209	0	0.0051	0.0017	0	0	0.0034	0.0007	0.0071	0.0002	0.107	0.29823	T	0.358	0.17064	T	0.086	0.24919	B	0.005	0.11217	B	0.055934	0.22601	N	0.495802	0.999997	0.08975	N	2.01	0.54746	M	2.4	0.15843	T	-1.3	0.42957	N	0.197	0.21710	-1.0164	0.24884	T	0.006	0.02055	T	10	0.003865391	0.00073	T	.	.	.	0.037	0.09474	.	.	0.177238962908	0.17366	0.1476650536286772	0.14688	0.271329387605	0.29656	0.355691462755	0.18757	T	0.007992	0.07355	T	-0.602239	0.00141	T	-0.620931	0.11113	T	0.00744029707040835	0.00086	T	0.849215	0.53152	T	0.034272753	0.03813	0.031375095	0.01718	0.034272753	0.03812	0.031375095	0.01717	-7.114	0.56771	T	.	.	0.082	0.11220	B	.;.;.	.;.;.	2.894708	0.38345	20.7	0.9986539473907623	0.94366	0.24268	0.22340	N	AEFDBI	0.116125	0.22804	N	-0.45577811563148	0.23545	1.265122	-0.347935149040524	0.26572	1.468653	1.76468148043862E-4	0.05786	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.542086	0.14980	0	.	.	5.74	2.41	0.28644	0.748000	0.25970	1.808000	0.28938	0.676000	0.76740	0.324000	0.25538	0.948000	0.28948	0.987000	0.62547	0.2402:0.1166:0.461:0.1822	1.911	0.03086	413	0.81939	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005556	0.025253	0.004087	0.000000	0.000000	0.008621	0.003086	0.000000	0.07143	1048.49	36	chr1	26188925	.	G	A	1048.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.991;DP=262;ExcessHet=0;FS=3.334;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-1.626;SOR=1.179	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1059,0,712	6	0	1	0
chr1	26200834	26200834	G	A	exonic	CATSPER4	.	nonsynonymous SNV	CATSPER4:NM_198137:exon8:c.G992A:p.G331D	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	.	0.0083	0.00858626	0.0026	0.0216	0.0044	0	0	0.0005	0.0022	0.0001	0.0025549	395	154602	rs80228909	0.0012	0.0012	0.0013	0.0011	0.0240	0.0011	0.0011	0.0226	0.0221	0.0240	0.0035	0.0016	0	0	0.0045	0.0004	0.0030	0.0002	0.0066	0.0066	0.0068	0.0063	0.0208	0.0062	0.0061	0.0196	0.0192	0.0208	0	0.0048	0.0017	0	0	0.0034	0.0006	0.0066	0.0002	0.213	0.19430	T	0.306	0.19972	T	0.012	0.16265	B	0.006	0.12133	B	0.679539	0.06084	N	1.206920	1	0.08975	N	0.695	0.17993	N	-4.37	0.97343	D	-0.04	0.07590	N	0.173	0.18512	-0.2187	0.77185	T	0.466	0.79383	T	10	0.0032977164	0.00057	T	.	.	.	0.136	0.36778	.	.	0.45470266194	0.45092	0.5923645865950602	0.59166	0.231487563342	0.25701	0.294064283371	0.09518	T	0.022173	0.17138	T	-0.403609	0.02192	T	-0.335613	0.40841	T	0.000436859698701168	0.00003	T	0.470053	0.13899	T	0.036906425	0.04632	0.063858695	0.12712	0.036906425	0.04631	0.063858695	0.12712	-2.577	0.06330	T	.	.	0.070	0.06433	B	.;.	.;.	-0.208363	0.03048	0.471	0.78245153556603186	0.12217	0.03672	0.08936	N	AEFDBCI	0.042926	0.06722	N	-1.22054054243808	0.04703	0.2128111	-1.24542602851954	0.05198	0.2471426	0.999970743878914	0.50053	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.542086	0.14980	0	.	.	4.21	-0.0823	0.13033	-0.715000	0.05099	-0.315000	0.10009	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3447:0.0:0.4617:0.1935	2.996	0.05632	412	0.82007	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.030303	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	638.53	16	chr1	26200834	.	G	A	638.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.143;DP=187;ExcessHet=0;FS=3.584;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.26;ReadPosRankSum=-1.285;SOR=1.667	GT:AD:DP:GQ:PL	0/1:15,22:37:99:649,0,415	6	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	1231.95	21	chr1	26282357	.	CTGGGGCCGGG	*	1231.95	.	AC=7;AF=0.583;AN=12;DP=190;ExcessHet=0;FS=3.622;MLEAC=8;MLEAF=0.667;MQ=60;QD=8.99;SOR=1.052	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,23:63:99:0|1:26282334_TGGGGCCG_T:832,0,1610:26282334	1	2	3	1
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	1271.16	30	chr1	26282386	.	GCCGGGA	*	1271.16	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.017;DP=230;ExcessHet=0.7136;FS=7.058;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=0.706;SOR=0.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,40:75:99:0|1:26282278_C_T:1548,0,1325:26282278	3	1	1	2
chr1	30733872	30733872	T	C	exonic	LAPTM5	.	nonsynonymous SNV	LAPTM5:NM_006762:exon8:c.A745G:p.T249A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00232793636584	0.0032	0.00259585	0.0008	0.0085	0.0005	0	0	1.554e-05	0	0	0.0007827	121	154602	rs113336710	0.0003	0.0003	0.0003	0.0002	0.0095	0.0002	0.0002	0.0086	0.0083	0.0095	0.0005	0	0	0	0.0010	9e-07	0.0008	8.14e-05	0.0026	0.0026	0.0025	0.0027	0.0091	0.0024	0.0023	0.0084	0.0081	0.0091	0	0.0009	0	0	0	0	1.471e-05	0.0024	0	0.657	0.04742	T	0.753	0.04754	T	0.0	0.02946	B	0.0	0.01387	B	0.947481	0.07634	N	1.027570	1	0.08975	N	0.29	0.10111	N	0.85	0.47130	T	-0.25	0.11008	N	0.022	0.00372	-1.0084	0.27416	T	0.054	0.22921	T	10	0.0037142038	0.00069	T	0.002328	0.04507	T	0.058	0.16647	.	.	0.198222871337	0.19423	0.20747620922971635	0.20663	0.173280383078	0.19520	0.302117168903	0.10716	T	0.053741	0.29529	T	-0.690146	0.00042	T	-0.758292	0.03174	T	0.00354871554168793	0.00038	T	0.359464	0.08250	T	0.016092815	0.00176	0.013581876	0.00001	0.016092815	0.00176	0.013581876	0.00001	-3.063	0.10876	T	.	.	0.067	0.02488	B	.	.	0.191514	0.05775	2.218	0.46874395511112049	0.03788	0.09792	0.15467	N	AEFBCI	0.079450	0.16047	N	-1.3384633290641	0.03246	0.1446731	-1.47238531701556	0.02573	0.1185793	0.999999991817387	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	4.8	-9.28	0.00557	-0.381000	0.07475	0.013000	0.13471	-0.218000	0.08083	0.224000	0.24579	0.001000	0.17328	0.225000	0.22599	0.1387:0.2627:0.1127:0.4859	2.047	0.03347	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	0.002016	0.000000	0.004076	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	1003.53	33	chr1	30733872	.	T	C	1003.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.149;SOR=0.658	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1014,0,1126	6	0	1	0
chr1	31698526	31698526	G	A	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon5:c.C347T:p.T116M	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0081	0.00559105	0.0020	0.0216	0.0007	0.0015	0	2.997e-05	0.0022	6.056e-05	0.0018176	281	154602	rs34091659	0.0006	0.0006	0.0007	0.0005	0.0201	0.0006	0.0006	0.0188	0.0183	0.0201	0.0011	0	0.0009	0	0.0005	2.428e-05	0.0014	3.478e-05	0.0058	0.0058	0.0062	0.0054	0.0202	0.0055	0.0054	0.0191	0.0186	0.0202	0	0.0016	0	0.0004	0	0	0.0001	0.0043	0	0.002	0.72154	D	0.008	0.67890	D	0.015	0.90584	B	0.01	0.68939	B	0.000000	0.84330	D	0.000000	0.999993	0.08975	N	2.57	0.75187	M	0.96	0.42888	T	-0.76	0.29525	N	0.389	0.43029	-1.0290	0.20778	T	0.087	0.33830	T	10	0.008547276	0.00194	T	.	.	.	0.089	0.25827	.	.	0.648984209542	0.64607	0.6001986664515815	0.59950	0.162573078674	0.18344	0.432507961988	0.29552	T	0.01081	0.23302	T	-0.480565	0.00734	T	-0.446818	0.28048	T	0.0526035891095489	0.05951	T	0.808019	0.54891	T	0.1456603	0.33380	0.15333287	0.36037	0.1456603	0.33379	0.15333287	0.36036	-8.507	0.64475	D	.	.	0.098	0.26138	B	.;.	.;.	3.887393	0.56536	23.7	0.99078342288948051	0.51906	0.75717	0.37087	D	AEFBI	0.213103	0.33872	N	0.0639899905704139	0.44788	2.746571	0.0812534707470698	0.43605	2.658924	0.998921980984922	0.37985	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.7	3.78	0.42629	1.981000	0.40250	6.754000	0.56518	0.676000	0.76740	0.822000	0.30018	1.000000	0.68203	0.987000	0.62547	0.0917:0.0:0.6207:0.2875	6.008	0.18785	717	0.55835	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	0.001007	0.005051	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1368.46	33	chr1	31698526	.	G	A	1368.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.379;DP=307;ExcessHet=0;FS=2.213;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.587;SOR=0.906	GT:AD:DP:GQ:PL	0/1:68,62:130:99:1379,0,1515	6	0	1	0
chr1	33494592	33494592	C	T	exonic	ZSCAN20	.	nonsynonymous SNV	ZSCAN20:NM_001377378:exon6:c.C2086T:p.R696C,ZSCAN20:NM_001377379:exon7:c.C1294T:p.R432C,ZSCAN20:NM_001377376:exon8:c.C2248T:p.R750C,ZSCAN20:NM_001377377:exon8:c.C2245T:p.R749C,ZSCAN20:NM_145238:exon8:c.C2248T:p.R750C	.	403	1115	3	1	0	5	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	.	0.00279553	0.0017	0.0001	0.0003	0	0	1.501e-05	0.0044	0.0121	0.0014683	227	154602	rs567502794	0.0008	0.0008	0.0004	0.0012	0.0115	0.0007	0.0007	0.0110	0.0107	8.963e-05	0.0001	0	7.557e-05	1.872e-05	0.0005	7.915e-05	0.0006	0.0115	0.0003	0.0003	0.0002	0.0004	0.0095	0.0002	0.0002	0.0074	0.0066	0	0	0	0	0	9.427e-05	0	1.471e-05	0	0.0095	.	.	.	0.017	0.60337	D	0.996	0.68779	D	0.448	0.46037	P	0.003334	0.35096	N	0.203527	0.999999	0.08975	N	1.935	0.51832	L	1.27	0.36146	T	.	.	.	0.173	0.18512	-1.0352	0.18794	T	0.069	0.28213	T	9	0.00564903	0.00125	T	.	.	.	0.048	0.13305	0.279	0.23323	0.535820281431	0.53231	0.20596124395737336	0.20513	0.287643818142	0.31166	0.368987321854	0.20687	T	0.130445	0.45935	T	-0.504278	0.00541	T	-0.486106	0.23801	T	0.0181920519851429	0.00540	T	0.833117	0.50161	T	0.15619588	0.35262	0.10741188	0.25857	0.15619588	0.35261	0.10741188	0.25856	-7.111	0.54839	T	.	.	0.181	0.39442	B	.	.	3.605357	0.50945	23.0	0.99750566825909226	0.84228	0.01301	0.04519	N	AEFBCI	0.204191	0.33065	N	-0.253781593839179	0.30952	1.730852	-0.239587034177638	0.30132	1.693935	0.104221874283708	0.16469	0.562547	0.31514	0	0.653731	0.59785	0	0.385369	0.06276	2	0.635551	0.53088	0	.	.	5.9	1.75	0.23707	0.331000	0.19477	0.617000	0.20091	-0.196000	0.09079	0.000000	0.06391	0.079000	0.22353	0.983000	0.59808	0.263:0.5385:0.1271:0.0714	5.182	0.14491	398	0.82839	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1383.63	42	chr1	33494592	.	C	T	1383.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.35;DP=319;ExcessHet=0;FS=7.32;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.133;SOR=0.812	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1394,0,1461	6	0	1	0
chr1	34794607	34794607	C	T	exonic	GJA4	.	nonsynonymous SNV	GJA4:NM_002060:exon2:c.C394T:p.R132C	.	171	1306	40	5	0	50	0.0187829	.	.	.	707363	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.405	.	0.0068	0.00419329	0.0095	0.0017	0.0062	0	0.0081	0.0116	0.0146	0.0134	0.0089003	1376	154602	rs61777220	0.0098	0.0098	0.0096	0.0100	0.0200	0.0097	0.0096	0.0170	0.0159	0.0013	0.0053	0.0206	2.519e-05	0.0098	0.0200	0.0099	0.0103	0.0140	0.0079	0.0079	0.0080	0.0077	0.0143	0.0075	0.0073	0.0116	0.0106	0.0018	0	0.0076	0.0248	0	0.0082	0.0238	0.0108	0.0114	0.0143	0.046	0.40832	D	0.035	0.56640	D	0.946	0.53363	P	0.333	0.42166	B	0.484983	0.12122	N	0.687923	0.769098	0.34129	D	1.39	0.34934	L	-4.47	0.97713	D	-2.02	0.46503	N	0.226	0.25377	0.695	0.93112	D	0.764	0.91963	D	10	0.007856071	0.00178	T	.	.	.	0.405	0.71791	.	.	0.970688122384	0.97037	0.5812088919128856	0.58049	0.819732499615	0.67100	0.345710337162	0.17288	T	0.728999	0.92399	D	-0.201871	0.20535	T	-0.0510736	0.66950	D	0.0201127774959818	0.00712	T	0.857914	0.57225	D	0.15551671	0.35143	0.09299633	0.21943	0.15551671	0.35143	0.09299633	0.21943	-8.933	0.67264	D	.	.	0.124	0.26607	B	.;.	.;.	3.433884	0.47740	22.5	0.99798233082737386	0.88283	0.71097	0.34867	D	AEFDBCI	0.438362	0.49778	N	0.0598603509916537	0.44597	2.730857	0.0723636387507308	0.43165	2.62392	0.907594485952564	0.26263	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.620976	0.48614	0	.	.	5.11	4.13	0.47661	3.749000	0.54867	2.695000	0.34117	0.599000	0.40250	1.000000	0.71638	0.992000	0.31684	0.659000	0.32940	0.377:0.623:0.0:0.0	11.059	0.47153	918	0.19598	Connexin, N-terminal;Connexin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.000000	0.019022	0.029240	0.050000	0.017241	0.018293	0.007576	0.07143	1527.46	52	chr1	34794607	.	C	T	1527.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=337;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.346;SOR=0.667	GT:AD:DP:GQ:PL	0/1:66,59:125:99:1538,0,1591	6	0	1	0
chr1	37481735	37481735	G	A	exonic	ZC3H12A	.	nonsynonymous SNV	ZC3H12A:NM_001323550:exon4:c.G718A:p.V240M,ZC3H12A:NM_025079:exon4:c.G718A:p.V240M	.	431	1089	2	0	0	2	0.000917431	.	.	.	718953	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.212	.	0.0033	0.00459265	0.0015	0.0101	0.0028	0	0	0.0005	0.0033	0.0002	0.0015006	232	154602	rs16824179	0.0007	0.0007	0.0007	0.0007	0.0093	0.0007	0.0007	0.0085	0.0082	0.0093	0.0028	0.0017	0	1.872e-05	0.0029	0.0004	0.0018	3.478e-05	0.0034	0.0034	0.0037	0.0030	0.0090	0.0032	0.0031	0.0083	0.0080	0.0090	0	0.0061	0.0014	0	0	0.0136	0.0004	0.0066	0	0.001	0.78490	D	0.003	0.76473	D	0.996	0.68779	D	0.951	0.68939	D	0.000261	0.46924	D	0.194778	0.999632	0.47961	D	1.32	0.33002	L	0.36	0.57880	T	-2.17	0.49018	N	0.465	0.50146	-0.5758	0.65784	T	0.228	0.59334	T	10	0.010192007	0.00228	T	.	.	.	0.212	0.50341	.	.	0.441718965978	0.43790	0.7387463863772741	0.73819	1.24570123189	0.81673	0.590616583824	0.51581	T	0.244948	0.61416	T	-0.122497	0.32716	T	0.0592264	0.74193	D	0.0312080055479436	0.02180	T	0.890711	0.62701	D	0.43634623	0.63166	0.31879312	0.57844	0.43634623	0.63167	0.31879312	0.57843	-9.174	0.68810	D	.	.	0.742	0.82086	P	.;.	.;.	4.449030	0.69149	25.3	0.99849068241283045	0.92838	0.86028	0.45235	D	ALL	0.112916	0.22301	N	0.594488125031861	0.72831	5.867849	0.532305901987915	0.70176	5.466868	0.999999999879028	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.606735	0.37207	0	0.635551	0.53088	0	.	.	5.8	4.7	0.58776	4.380000	0.59348	7.338000	0.58235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.466000	0.28252	0.1887:0.0:0.8113:0.0	11.727	0.50979	882	0.29131	Ribonuclease Zc3h12a-like, NYN domain;Ribonuclease Zc3h12a-like, NYN 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	0.008560	0.020202	0.014946	0.005848	0.000000	0.000000	0.000000	0.003788	0.07143	2239.46	34	chr1	37481735	.	G	A	2239.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.731;DP=393;ExcessHet=0;FS=1.744;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-3.151;SOR=0.836	GT:AD:DP:GQ:PL	0/1:103,99:202:99:2250,0,2317	6	0	1	0
chr1	37567690	37567690	C	T	exonic	GNL2	.	nonsynonymous SNV	GNL2:NM_001323624:exon14:c.G1477A:p.A493T,GNL2:NM_013285:exon15:c.G2026A:p.A676T,GNL2:NM_001323623:exon16:c.G2230A:p.A744T	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00365839866809	0.0013	0.00139776	0.0013	0.0018	0.0015	0	0	0.0015	0.0011	0.0015	0.0013001	201	154602	rs34593152	0.0009	0.0009	0.0009	0.0010	0.0099	0.0009	0.0009	0.0078	0.0071	0.0027	0.0020	0.0154	0	0	0.0099	0.0004	0.0024	0.0014	0.0019	0.0019	0.0019	0.0019	0.0031	0.0017	0.0017	0.0024	0.0022	0.0022	0	0.0031	0.0199	0	0	0.0272	0.0009	0.0052	0.0017	0.609	0.05485	T	0.477	0.12002	T	0.0	0.02946	B	0.0	0.01387	B	0.427818	0.12787	N	0.748396	1	0.08975	N	-1.79	0.00298	N	1.97	0.22067	T	0.06	0.06253	N	0.04	0.01347	-0.9685	0.37510	T	0.013	0.05273	T	10	0.0041558146	0.00082	T	0.003658	0.08433	T	0.050	0.13987	.	.	0.257292322809	0.25322	0.05750927210635932	0.05691	0.104674418021	0.11842	0.263011455536	0.05253	T	0.014382	0.12256	T	-0.690041	0.00042	T	-0.770449	0.02753	T	0.00183060770153295	0.00019	T	0.280872	0.04893	T	0.017562546	0.00283	0.03358186	0.02276	0.017562546	0.00283	0.03358186	0.02276	-3.822	0.21134	T	.	.	0.062	0.01348	B	.	.	0.973245	0.13505	10.03	0.70732174364302325	0.09392	0.01319	0.04561	N	AEFBI	0.038830	0.05552	N	-1.06880963311266	0.07224	0.3349233	-0.946974641750875	0.10993	0.5573292	0.446568036870341	0.20501	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.45	3.33	0.37245	1.996000	0.40396	1.177000	0.24667	-0.341000	0.05685	0.948000	0.32982	0.893000	0.27858	0.008000	0.08271	0.0:0.1011:0.0:0.8989	7.796	0.28314	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008073	0.020408	0.010870	0.008772	0.000000	0.000000	0.006135	0.000000	0.07143	1245.49	35	chr1	37567690	.	C	T	1245.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.179;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.044;SOR=0.679	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1256,0,1051	6	0	1	0
chr1	37761552	37761552	C	G	exonic	EPHA10	.	nonsynonymous SNV	EPHA10:NM_001099439:exon3:c.G703C:p.E235Q,EPHA10:NM_173641:exon3:c.G703C:p.E235Q	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0597257414608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1192027150	2.074e-06	2.052e-06	0	4.169e-06	3.5e-05	5.5e-07	1.5e-07	9.3e-06	4.58e-06	0	0	0	0	0	0	0	0	3.5e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.55530	D	0.041	0.50514	D	0.994	0.70673	D	0.829	0.70027	P	0.000672	0.42516	D	0.000000	0.619927	0.30789	N	1.945	0.52268	M	-1.13	0.77719	T	-2.08	0.60827	N	0.514	0.54496	0.022	0.82690	D	0.523	0.82206	D	10	0.4555661	0.58967	T	0.059726	0.67761	D	0.183	0.45592	0.374	0.38667	0.933137806945	0.93245	0.6850399854379573	0.68442	1.69600566787	0.90213	0.86739897728	0.92194	D	0.040687	0.25608	T	-0.00895452	0.50413	T	-0.150009	0.59242	T	0.828084707260132	0.48382	D	0.939106	0.77081	D	0.13828273	0.31987	0.10990055	0.26492	0.13828273	0.31987	0.10990055	0.26491	-7.197	0.55460	T	.	.	0.263	0.53253	B	.;.;.	.;.;.	3.940185	0.57647	23.9	0.99815691061547007	0.89885	0.89171	0.49477	D	AEFDBHCI	0.751055	0.69198	D	0.630321125973971	0.75101	6.246835	0.601654722495762	0.75060	6.244166	0.125467408239722	0.16979	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.542086	0.14980	0	.	.	4.4	4.4	0.52402	4.036000	0.57015	7.663000	0.64347	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.9074:0.0:0.0926	10.172	0.42089	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	.	.	.	.	.	.	.	.	0.07143	772.63	33	chr1	37761552	.	C	G	772.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=242;ExcessHet=0;FS=1.098;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=1.36;SOR=0.527	GT:AD:DP:GQ:PL	0/1:20,28:48:99:783,0,470	6	0	1	0
chr1	37865831	37865831	T	C	exonic	INPP5B	.	nonsynonymous SNV	INPP5B:NM_001297434:exon16:c.A1952G:p.E651G,INPP5B:NM_001350227:exon16:c.A1784G:p.E595G,INPP5B:NM_001350228:exon19:c.A1784G:p.E595G,INPP5B:NM_001365822:exon21:c.A2378G:p.E793G,INPP5B:NM_001365825:exon21:c.A2087G:p.E696G,INPP5B:NM_001365820:exon22:c.A2444G:p.E815G,INPP5B:NM_001365821:exon22:c.A2438G:p.E813G,INPP5B:NM_005540:exon22:c.A2444G:p.E815G,INPP5B:NM_001365823:exon23:c.A2249G:p.E750G,INPP5B:NM_001365824:exon23:c.A2249G:p.E750G	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	0.0860939280911	.	0.000199681	0.0003	0	0	0	0	1.498e-05	0	0.0019	0.0002135	33	154602	rs535289020	0.0001	0.0001	6.672e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	0	0	0	0	7.495e-05	0.0002	8.994e-07	4.969e-05	0.0021	5.912e-05	5.906e-05	5.141e-05	6.717e-05	0.0017	3.076e-05	2.209e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.47e-05	0	0.0017	0.001	0.78490	D	0.005	0.76473	D	0.993	0.65571	D	0.919	0.65474	D	0.000001	0.84330	D	0.053624	1	0.81001	D	3.465	0.92394	M	0.75	0.50192	T	-5.68	0.87223	D	0.9	0.90025	-0.2176	0.77215	T	0.335	0.70199	T	10	0.3181802	0.49220	T	0.086094	0.74666	D	0.619	0.85196	0.656	0.79379	0.833641578027	0.83205	0.7346717438450981	0.73412	0.825756001422	0.67397	0.566909253597	0.48241	T	0.264936	0.63676	T	-0.0176621	0.49184	T	0.195686	0.82890	D	0.439970338708937	0.30428	T	0.938606	0.76932	D	0.90743226	0.92057	0.90131605	0.95070	0.90743226	0.92058	0.90131605	0.95070	-13.016	0.92351	D	.	.	0.488	0.69464	A	.;.;.;.	.;.;.;.	4.830322	0.78760	27.0	0.99927521291000754	0.99163	0.95569	0.65245	D	ALL	0.896087	0.83680	D	0.815440498131776	0.87063	9.090245	0.758835634297325	0.86815	9.012008	0.999999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.09	5.09	0.68647	7.269000	0.77878	7.922000	0.74576	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.050	0.71527	815	0.41851	.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1112.46	37	chr1	37865831	.	T	C	1112.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.804;DP=268;ExcessHet=0;FS=0.839;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.78;SOR=0.823	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1123,0,976	6	0	1	0
chr1	44841862	44841862	G	C	exonic	PTCH2	.	nonsynonymous SNV	PTCH2:NM_001166292:exon2:c.C250G:p.Q84E,PTCH2:NM_003738:exon2:c.C250G:p.Q84E	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Medulloblastoma, somatic	0	1521	1	0	0	1	0.000328623	.	.	.	1896829	not_specified|Gorlin_syndrome	MedGen:CN169374|MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.0200718075518	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755258246	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	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	0.295	0.15823	T	0.543	0.09655	T	0.001	0.07471	B	0.004	0.10090	B	0.011470	0.29519	N	0.169130	0.719074	0.29940	N	0.49	0.13296	N	-2.99	0.92108	D	-0.89	0.24026	N	0.274	0.31702	-0.3514	0.73512	T	0.494	0.80825	T	10	0.23823902	0.40941	T	0.020072	0.42586	T	0.253	0.56294	0.505	0.59924	0.826632325508	0.82499	0.45902413547304727	0.45820	0.185083578846	0.20806	0.391493290663	0.23880	T	0.14519	0.48218	T	0.0285252	0.55527	T	-0.196802	0.54949	T	0.220275532988107	0.21478	T	0.79622	0.43953	T	0.2205228	0.44609	0.18793741	0.42054	0.2205228	0.44609	0.18793741	0.42053	-5.397	0.40891	T	.	.	0.074	0.05317	B	.;.	.;.	3.302271	0.45341	22.1	0.93283712708143607	0.22988	0.88123	0.47914	D	AEFGBI	0.375993	0.46031	N	-0.286276220733483	0.29678	1.64792	-0.0722516227453863	0.36543	2.127947	0.999999625828242	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.567892	0.33627	0	.	.	4.63	4.63	0.57175	1.422000	0.34434	7.400000	0.58569	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8219:0.1781	11.616	0.50346	582	0.69555	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	814.46	34	chr1	44841862	.	G	C	814.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.18;DP=287;ExcessHet=0;FS=0.821;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-1.529;SOR=0.796	GT:AD:DP:GQ:PL	0/1:57,33:90:99:825,0,1386	6	0	1	0
chr1	45509129	45509134	CCCGCC	-	exonic	MMACHC	.	nonframeshift deletion	MMACHC:NM_001330540:exon4:c.592_597del:p.A199_P200del,MMACHC:NM_015506:exon4:c.763_768del:p.A256_P257del	Methylmalonic aciduria and homocystinuria, cblC type, Autosomal recessive	1	1508	13	0	0	13	0.00429185	.	.	.	204443	Cobalamin_C_disease|MMACHC-related_disorder|Disorders_of_Intracellular_Cobalamin_Metabolism|not_provided	MONDO:MONDO:0010184,MedGen:C1848561,OMIM:277400,Orphanet:26,Orphanet:79282|.|MedGen:CN043592|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0079	.	0.0005	0.0001	0	0	0	0.0001	0	0.0033	0.0003946	61	154602	rs1182154648	0.0003	0.0003	0.0002	0.0004	0.0031	0.0003	0.0003	0.0028	0.0027	5.987e-05	0.0003	0	0	0	0.0016	9.988e-05	0.0005	0.0031	0.0003	0.0003	0.0002	0.0003	0.0030	0.0002	0.0002	0.0018	0.0014	4.895e-05	0	0.0012	0	0	0	0	0.0001	0.0005	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1904.45	34	chr1	45509128	.	ACCCGCC	A	1904.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.069;DP=313;ExcessHet=0;FS=6.874;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.14;ReadPosRankSum=1.13;SOR=1.402	GT:AD:DP:GQ:PL	0/1:55,50:105:99:1915,0,2157	6	0	1	0
chr1	46613215	46613215	G	C	exonic	MOB3C	.	nonsynonymous SNV	MOB3C:NM_145279:exon2:c.C107G:p.A36G,MOB3C:NM_201403:exon2:c.C107G:p.A36G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.0139583808919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	.	.	.	-3.89	0.72820	D	0.774	0.77132	0.264	0.86973	D	0.557	0.83845	D	9	0.6686675	0.70580	D	0.013958	0.33748	T	0.582	0.83193	0.642	0.77903	0.707347941332	0.70479	0.38905998175117595	0.38820	0.572858510513	0.53358	0.764638364315	0.76621	T	0.131582	0.46340	T	0.285581	0.81788	D	0.172441	0.81555	D	0.994002064544445	0.85055	D	0.990601	0.97065	D	0.75960207	0.81429	0.73670983	0.84438	0.75960207	0.81431	0.73670983	0.84440	-7.806	0.59740	D	.	.	0.649	0.77163	P	.;.;.	.;.;.	4.951349	0.81797	27.6	0.99793096647677015	0.87839	0.96467	0.69283	D	AEFDBHCI	0.898988	0.84287	D	0.950088505148483	0.93988	12.421	0.892121511922027	0.95220	13.41926	1.0	0.98316	0.660085	0.49399	0	0.662677	0.63036	0	0.735289	0.94003	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	9.951000	0.98966	11.917000	0.99728	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.964	0.89013	173	0.93306	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	297.96	71	chr1	46613215	.	G	C	297.96	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-2.807;DP=807;ExcessHet=3.1439;FS=124.913;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.38;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,21:162:28:.:.:28,0,3736:.	0	0	4	3
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2462.79	11	chr1	50419106	.	G	*	2462.79	.	AC=2;AF=0.143;AN=14;DP=111;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.63;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:20:99:1|0:50419101_CCGGCGG_C:874,357,394:50419101	5	0	2	0
chr1	51402479	51402479	G	C	exonic	EPS15	.	nonsynonymous SNV	EPS15:NM_001159969:exon6:c.C896G:p.A299G,EPS15:NM_001981:exon18:c.C1838G:p.A613G	.	475	1043	3	1	0	5	0.0023912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00435812345159	7.7e-05	0.000399361	0.0005	9.754e-05	0	0	0	7.535e-05	0	0.0035	0.0004398	68	154602	rs143123544	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0003	0.0030	0.0029	0	2.292e-05	0	0	0	0.0011	0.0001	0.0002	0.0033	0.0001	0.0001	0.0001	0.0002	0.0027	9.742e-05	8.257e-05	0.0016	0.0013	0	0	6.542e-05	0	0	0	0	0.0001	0	0.0027	0.502	0.10482	T	0.285	0.21343	T	0.9	0.49598	P	0.275	0.40079	B	.	.	.	.	0.779498	0.34249	D	0.69	0.16971	N	2.23	0.18083	T	-1.26	0.31778	N	0.199	0.21969	-1.0779	0.07761	T	0.024	0.10374	T	9	0.005326152	0.00117	T	0.004358	0.10624	T	0.064	0.18567	.	.	0.572208630285	0.56887	0.10539253603872833	0.10469	0.12926129739	0.14574	0.317541390657	0.13048	T	0.022236	0.21818	T	-0.618603	0.00112	T	-0.663463	0.08035	T	0.0370637527841134	0.03167	T	0.839416	0.51368	T	0.04121575	0.06030	0.08135075	0.18479	0.04121575	0.06030	0.08135075	0.18478	-5.015	0.37002	T	.	.	0.104	0.18663	B	.;.	.;.	3.446934	0.47979	22.5	0.984444930500466	0.41553	0.88262	0.48111	D	AEFBI	0.307541	0.41439	N	0.0440756141906166	0.43871	2.671619	0.199251227161225	0.49805	3.179518	9.3868446090772E-4	0.08027	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.96	4.0	0.45673	1.865000	0.39117	5.654000	0.49193	0.618000	0.50648	0.997000	0.40164	1.000000	0.68203	0.985000	0.61073	0.0672:0.1218:0.685:0.126	7.498	0.26670	386	0.83455	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	338.27	29	chr1	51402479	.	G	C	338.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.145;DP=167;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-1.215;SOR=0.665	GT:AD:DP:GQ:PL	0/1:13,17:30:99:348,0,249	5	0	1	1
chr1	52857042	52857042	A	G	exonic	ZYG11A	.	nonsynonymous SNV	ZYG11A:NM_001004339:exon3:c.A301G:p.M101V	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00274250974343	.	.	0.0003	0	0.0026	0	0	0	0	0.0007	3.88e-05	6	154602	rs760205371	3.368e-05	3.283e-05	1.271e-05	5.527e-05	0.0006	2.595e-05	2.326e-05	0.0004	0.0004	0	0	0	0	0	0	9.291e-07	1.728e-05	0.0006	1.314e-05	1.313e-05	1.285e-05	1.345e-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	0.221	0.18889	T	0.31	0.19721	T	0.004	0.12183	B	0.012	0.16012	B	0.005643	0.32621	N	0.345810	1	0.81001	D	1.935	0.51832	L	5.59	0.00834	T	-0.56	0.17003	N	0.143	0.14338	-1.0216	0.23195	T	0.003	0.01026	T	10	0.0105982125	0.00235	T	0.002743	0.05665	T	0.130	0.35528	0.431	0.48007	0.0401082797425	0.02173	0.31582300397875485	0.31495	.	.	0.356344997883	0.18853	T	0.001462	0.00916	T	-0.430276	0.01477	T	-0.489396	0.23455	T	0.0531764782079432	0.06049	T	0.810219	0.46129	T	0.10190322	0.24075	0.10066526	0.24077	0.10190322	0.24075	0.10066526	0.24077	-2.426	0.05295	T	.	.	0.129	0.27702	B	.	.	2.439176	0.31391	18.73	0.97484661893540103	0.34209	0.88382	0.48284	D	AEFDGBI	0.232357	0.35544	N	-0.310175849460254	0.28760	1.589074	-0.13855671851698	0.33852	1.94082	0.611822986660184	0.21811	0.638212	0.43195	0	0.546412	0.12157	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.32	4.16	0.48138	2.293000	0.43219	6.002000	0.52504	0.756000	0.94297	0.989000	0.36753	1.000000	0.68203	1.000000	0.97212	0.7921:0.0:0.0725:0.1354	6.678	0.22292	153	0.93993	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	708.53	33	chr1	52857042	.	A	G	708.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.459;DP=228;ExcessHet=0;FS=1.181;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.828;SOR=0.445	GT:AD:DP:GQ:PL	0/1:22,29:51:99:719,0,593	6	0	1	0
chr1	54609332	54609332	C	T	exonic	FAM151A	.	nonsynonymous SNV	FAM151A:NM_176782:exon8:c.G1694A:p.R565Q	.	425	1096	1	0	0	1	0.000455996	.	.	.	2378473	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.295	0.0163408133462	0.0002	0.000199681	0.0002	9.63e-05	0	0	0	0.0003	0.0011	0	0.0001746	27	154602	rs200747808	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	5.975e-05	2.237e-05	7.657e-05	2.519e-05	0.0007	0.0003	0.0004	0.0003	4.638e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.814e-05	0	0.0003	0	0	0.0004	0	0.0003	0	0	0.599	0.05652	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000015	0.62929	D	0.000000	1	0.81001	D	2.505	0.72935	M	2.35	0.16217	T	-1.21	0.30762	N	0.639	0.65159	-0.9748	0.36170	T	0.119	0.41604	T	10	0.2404049	0.41199	T	0.016341	0.37549	T	0.295	0.61502	.	.	0.391930172978	0.38808	0.4869946763659551	0.48619	0.412894105162	0.42014	0.536222100258	0.43912	T	9.27E-4	0.00478	T	-0.106141	0.35407	T	-0.0408087	0.67647	D	0.115826743105536	0.14016	T	0.758824	0.38273	T	0.099069744	0.23375	0.10928704	0.26337	0.099069744	0.23375	0.10928704	0.26336	-4.699	0.33392	T	.	.	0.124	0.31658	B	.;.	.;.	3.830430	0.55368	23.6	0.99933321402007769	0.99488	0.93274	0.57780	D	AEFDBI	0.553381	0.56465	D	0.680310990764199	0.78343	6.852258	0.605124722240671	0.75312	6.288197	0.999999670821347	0.74766	0.538715	0.22204	0	0.588066	0.40923	0	0.78367	0.99111	0	0.567892	0.33627	0	.	.	4.28	4.28	0.50183	3.268000	0.51287	4.416000	0.43298	0.599000	0.40250	0.962000	0.33725	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.034	0.71390	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002073	0.005051	0.000000	0.003497	0.000000	0.000000	0.006098	0.000000	0.07143	1337.44	34	chr1	54609332	.	C	T	1337.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.88;DP=334;ExcessHet=0;FS=1.471;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.535;SOR=0.68	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1348,0,1327	6	0	1	0
chr1	59904999	59904999	C	T	exonic	CYP2J2	.	nonsynonymous SNV	CYP2J2:NM_000775:exon7:c.G1063A:p.A355T	.	420	1045	55	2	0	59	0.0274546	.	.	.	2808929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.015105775827	0.0011	0.000998403	0.0018	0.0006	0.0007	0	0.0002	0.0011	0.0055	0.0078	0.0015524	240	154602	rs144856672	0.0012	0.0012	0.0009	0.0014	0.0184	0.0011	0.0011	0.0155	0.0145	0.0007	0.0011	3.827e-05	7.56e-05	0	0.0184	0.0006	0.0017	0.0085	0.0010	0.0010	0.0009	0.0011	0.0085	0.0009	0.0008	0.0065	0.0057	0.0006	0	0.0012	0	0	0	0.0102	0.0008	0.0043	0.0085	0.024	0.47745	D	0.006	0.70582	D	0.002	0.09854	B	0.015	0.17295	B	0.395206	0.13200	N	0.748294	0.999761	0.20447	N	1.79	0.46772	L	-0.34	0.68474	T	0.11	0.05706	N	0.035	0.01004	-0.9203	0.45513	T	0.166	0.50356	T	10	0.0077751577	0.00177	T	0.015106	0.35650	T	0.102	0.29158	.	.	0.519783508757	0.51621	0.3072233096902115	0.30635	0.121399189347	0.13675	0.226801514626	0.01740	T	0.113322	0.43027	T	-0.579393	0.00194	T	-0.599907	0.12819	T	0.023003499802571	0.01024	T	0.765923	0.39354	T	0.063747086	0.13454	0.08463631	0.19484	0.063747086	0.13453	0.08463631	0.19483	-4.378	0.29257	T	.	.	0.078	0.06990	B	.	.	0.592324	0.09609	6.382	0.99512910124413778	0.68739	0.25292	0.22655	N	AEFI	0.434115	0.49529	N	-0.680728933999535	0.16572	0.8454822	-0.632723241483656	0.18655	0.9974999	0.00716124955779844	0.11400	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.95	2.94	0.33188	0.084000	0.14738	-9.174000	0.00857	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.336000	0.25340	0.1638:0.6205:0.1376:0.0781	5.067	0.13926	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.009511	0.017544	0.000000	0.025862	0.003049	0.011364	0.07143	1146.45	35	chr1	59904999	.	C	T	1146.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.297;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=1.03;SOR=0.693	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1157,0,1132	6	0	1	0
chr1	68438977	68438977	A	C	exonic	RPE65	.	nonsynonymous SNV	RPE65:NM_000329:exon9:c.T963G:p.N321K	Leber congenital amaurosis 2, Autosomal recessive;Retinitis pigmentosa 20, Autosomal recessive	0	1482	40	0	0	40	0.0133156	.	.	YES	98767	Leber_congenital_amaurosis|Retinitis_pigmentosa|Joubert_syndrome_9|not_provided|Retinitis_pigmentosa_20|Leber_congenital_amaurosis_2|RPE65-related_recessive_retinopathy|not_specified	MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285,Orphanet:2318|MedGen:C3661900|MONDO:MONDO:0013425,MedGen:C3151086,OMIM:613794,Orphanet:791|MONDO:MONDO:0008765,MedGen:C1859844,OMIM:204100,Orphanet:65|MONDO:MONDO:0100368,MedGen:CN305526|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.215	.	0.0008	0.00499201	0.0054	0.0003	0.0013	0.0001	0	0.0012	0.0088	0.0328	0.0045278	700	154602	rs149916178	0.0028	0.0028	0.0016	0.0039	0.0357	0.0027	0.0027	0.0346	0.0342	0.0001	0.0011	0.0043	2.52e-05	1.872e-05	0.0090	0.0005	0.0026	0.0357	0.0014	0.0014	0.0008	0.0021	0.0280	0.0013	0.0012	0.0242	0.0227	9.628e-05	0	0.0008	0.0060	0.0004	0	0	0.0006	0.0019	0.0280	0.075	0.34444	T	0.146	0.32891	T	0.013	0.16609	B	0.027	0.21085	B	0.000617	0.42945	D	0.265288	0.999999	0.08975	N	1.575	0.39704	L	-3.49	0.94621	D	-1.32	0.32991	N	0.416	0.45615	-0.3705	0.72946	T	0.503	0.81256	D	10	0.011144489	0.00245	T	.	.	.	0.215	0.50805	0.835	0.94294	0.775488474258	0.77342	0.5935617026209556	0.59286	0.0643189233085	0.07168	0.274915516376	0.06793	T	0.72609	0.92296	D	-0.37845	0.03186	T	-0.290632	0.45707	T	0.00814690459576519	0.00097	T	0.927007	0.73102	D	0.18744066	0.40198	0.21505415	0.46079	0.18744066	0.40198	0.21505415	0.46079	-5.8	0.44574	T	0.21033390043485128	0.28177	0.121	0.25166	B	.	.	1.060416	0.14419	11.00	0.94426477776346773	0.24837	0.45798	0.27618	N	AEFBI	0.139898	0.26164	N	-0.9372702875546	0.09980	0.4748083	-0.892985305148867	0.12260	0.629581	0.607420407576686	0.21776	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.87	-0.301	0.12165	0.135000	0.15775	0.067000	0.14209	-0.562000	0.04833	0.889000	0.31176	0.000000	0.08366	0.953000	0.50222	0.4224:0.0:0.5776:0.0	9.370	0.37408	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.000000	0.050000	0.008621	0.012195	0.018939	0.07143	1145.46	40	chr1	68438977	.	A	C	1145.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.789;DP=282;ExcessHet=0;FS=0.736;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-0.449;SOR=0.555	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1156,0,1322	6	0	1	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	580.22	31	chr1	85158757	.	C	G	580.22	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.575;DP=313;ExcessHet=11.5949;FS=185.984;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=0.994;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,27:61:99:.:.:347,0,326:.	1	0	5	1
chr1	85182942	85182942	C	T	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon3:c.G1700A:p.R567Q	.	433	1080	8	1	0	10	0.00460829	.	.	.	3482129	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.016	0.00686139050758	0.0003	0.000199681	0.0004	0	0.0004	0	0.0002	0.0006	0.0011	0	0.0003169	49	154602	rs202166039	0.0003	0.0003	0.0003	0.0004	0.0014	0.0003	0.0003	0.0007	0.0007	2.987e-05	0.0010	0.0001	0	9.364e-05	0.0014	0.0004	0.0004	0.0002	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	2.409e-05	0	0.0004	0	0	0	0	0.0005	0.0009	0	0.636	0.05061	T	0.866	0.03352	T	0.003	0.11197	B	0.001	0.04355	B	0.389669	0.13273	N	0.720031	0.999974	0.18612	N	-0.315	0.03579	N	3.26	0.06681	T	0.21	0.04776	N	0.052	0.02366	-0.9202	0.45527	T	0.002	0.00707	T	10	0.0062747896	0.00142	T	0.006861	0.18149	T	0.016	0.02506	.	.	0.184867976434	0.18130	0.0960667226450037	0.09538	0.126926261757	0.14302	0.171866059303	0.00040	T	0.003877	0.03282	T	-0.645809	0.00077	T	-0.77585	0.02581	T	0.00334170502551714	0.00035	T	0.726327	0.34071	T	0.03275352	0.03360	0.036428217	0.03086	0.03275352	0.03359	0.036428217	0.03086	-2.887	0.09014	T	.	.	0.067	0.02458	B	.	.	0.398265	0.07698	4.371	0.76309711180950457	0.11416	0.04594	0.10247	N	AEFDBIJ	0.039952	0.05876	N	-1.48530915202629	0.01953	0.08575755	-1.39053105196033	0.03352	0.1561867	0.98848881228145	0.31531	0.554377	0.28877	0	0.588066	0.40923	0	0.566861	0.19136	0	0.421255	0.06892	1	.	.	5.41	-3.66	0.04200	0.275000	0.18461	0.025000	0.13648	-1.042000	0.01662	0.120000	0.23175	0.004000	0.18990	0.940000	0.48062	0.0:0.3536:0.3307:0.3158	6.864	0.23264	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1324.46	40	chr1	85182942	.	C	T	1324.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.68;DP=303;ExcessHet=0;FS=0.774;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.8;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,47:93:99:0|1:85182937_C_T:1335,0,1041:85182937	6	0	1	0
chr1	89150350	89150350	C	A	exonic	GBP7	.	nonsynonymous SNV	GBP7:NM_207398:exon6:c.G851T:p.G284V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	0.291519780895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000109	0.50451	D	0.129946	0.999994	0.58761	D	4.085	0.97236	H	-1.27	0.79277	T	-8.69	0.97617	D	0.537	0.56489	0.584	0.91693	D	0.680	0.88929	D	10	0.95483285	0.94838	D	0.29152	0.90580	D	0.531	0.80247	0.859	0.95718	0.757999785277	0.75580	0.5559184559761924	0.55518	0.272749980587	0.29779	0.386921703815	0.23235	T	0.085685	0.37556	T	0.110339	0.65388	D	-0.0792819	0.64957	T	0.961020061099325	0.65964	D	0.927507	0.96889	D	0.8986516	0.91263	0.8950689	0.94626	0.8986516	0.91264	0.8950689	0.94626	-10.97	0.79494	D	.	.	0.311	0.53861	B	.;.	.;.	3.874325	0.56268	23.7	0.99466552095215188	0.66102	0.66382	0.33059	D	AEFI	0.373130	0.45851	N	0.3033270486675	0.56318	3.796442	0.032562507085557	0.41236	2.474085	0.999996147569146	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.4	3.4	0.38031	1.916000	0.39617	-2.504000	0.03674	0.599000	0.40250	0.152000	0.23684	0.000000	0.08366	0.692000	0.33898	0.0:1.0:0.0:0.0	12.324	0.54327	598	0.68232	Guanylate-binding protein/Atlastin, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1261.44	33	chr1	89150350	.	C	A	1261.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.12;DP=332;ExcessHet=0;FS=0.678;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-0.606;SOR=0.776	GT:AD:DP:GQ:PL	0/1:73,52:125:99:1272,0,1738	6	0	1	0
chr1	92289136	92289136	T	C	exonic	GLMN	.	nonsynonymous SNV	GLMN:NM_001319683:exon6:c.A410G:p.H137R,GLMN:NM_053274:exon6:c.A410G:p.H137R	Glomuvenous malformations, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00707986389504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.06204	T	0.796	0.04117	T	0.0	0.02946	B	0.0	0.01387	B	0.196278	0.16716	N	0.640866	1	0.08975	N	0	0.06538	N	0.94	0.43672	T	0.19	0.04947	N	0.149	0.15187	-0.9463	0.41599	T	0.013	0.05177	T	10	0.042115748	0.02930	T	0.00708	0.18759	T	0.025	0.05312	0.431	0.48007	0.365317461125	0.36143	0.13815583759797023	0.13739	0.168159749984	0.18958	0.28011405468	0.07508	T	0.005857	0.05306	T	-0.368954	0.03648	T	-0.767753	0.02842	T	0.0218109226788054	0.00888	T	0.692631	0.30204	T	0.070115834	0.15418	0.03543028	0.02792	0.070115834	0.15418	0.03543028	0.02792	-2.634	0.06766	T	0.1431295557594327	0.16244	0.059	0.00793	B	.	.	0.428178	0.07985	4.701	0.63619871912086623	0.07272	0.04442	0.10042	N	AEFDGBI	0.036325	0.04822	N	-1.09143719812292	0.06800	0.3140706	-1.00913059335626	0.09584	0.4776357	0.897278748322942	0.25998	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	-3.98	0.03810	-0.624000	0.05637	1.067000	0.23771	0.609000	0.47794	0.024000	0.20007	1.000000	0.68203	0.993000	0.69303	0.0:0.4768:0.2495:0.2737	9.344	0.37262	593	0.68665	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	570.63	35	chr1	92289136	.	T	C	570.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.853;DP=253;ExcessHet=0;FS=1;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=0.427;SOR=0.495	GT:AD:DP:GQ:PL	0/1:47,28:75:99:581,0,1363	6	0	1	0
chr1	97699474	97699474	T	C	exonic	DPYD	.	nonsynonymous SNV	DPYD:NM_000110:exon6:c.A557G:p.Y186C	Dihydropyrimidine dehydrogenase deficiency, Autosomal recessive;5-fluorouracil toxicity, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	105990	DPYD-related_disorder|fluorouracil_response_-_Other|fluorouracil_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency|not_specified|not_provided	.|.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:1675|MedGen:CN169374|MedGen:C3661900	reviewed_by_expert_panel	drug_response	.	.	.	.	.	.	.	.	0.581	.	0.0075	0.00638978	0.0023	0.0254	0.0010	0	0	0.0001	0.0011	0	0.0021539	333	154602	rs115232898	0.0006	0.0006	0.0007	0.0005	0.0210	0.0006	0.0005	0.0197	0.0192	0.0210	0.0008	0	0	0	0.0010	1.709e-05	0.0014	3.479e-05	0.0058	0.0058	0.0062	0.0054	0.0202	0.0055	0.0054	0.0191	0.0186	0.0202	0	0.0020	0	0	0	0	4.413e-05	0.0052	0	0.021	0.49117	D	0.008	0.67890	D	0.999	0.77913	D	0.925	0.65999	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.97	0.24054	L	-1.53	0.81559	D	-5.73	0.87611	D	0.909	0.91047	0.009	0.82431	D	0.527	0.82394	D	10	0.010817081	0.00239	T	.	.	.	0.581	0.83137	.	.	0.944856243566	0.94427	0.7632409529192293	0.76272	0.383972811341	0.39712	0.612043678761	0.54606	T	0.461096	0.79801	T	-0.328698	0.06211	T	-0.226675	0.52092	T	0.0439466619637672	0.04410	T	0.90351	0.66162	D	0.3875599	0.59858	0.26694965	0.52547	0.45106363	0.64109	0.2732069	0.53237	-9.527	0.71026	D	0.6176486508555453	0.68574	0.153	0.33891	B	.	.	4.494550	0.70240	25.5	0.99838968288282215	0.91972	0.94025	0.59887	D	AEFBI	0.689626	0.65023	D	0.584083522095836	0.72183	5.765459	0.538578614473462	0.70608	5.530068	0.00317002073316046	0.09966	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.5	2.94	0.33188	3.679000	0.54368	2.816000	0.34935	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2249:0.0:0.0:0.7751	10.818	0.45791	878	0.29785	.	.	.	.	.	.	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	947.63	33	chr1	97699474	.	T	C	947.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.058;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.349;SOR=0.791	GT:AD:DP:GQ:PL	0/1:42,42:84:99:958,0,972	6	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	.	.	.	.	.	.	.	.	0.07143	146.48	25	chr1	99884396	.	T	C	146.48	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.272;DP=248;ExcessHet=0;FS=52.935;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=1.45;SOR=5.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,14:74:99:0|1:99884396_T_C:157,0,1285:99884396	6	0	1	0
chr1	103620666	103620666	A	C	exonic	AMY2A	.	nonsynonymous SNV	AMY2A:NM_000699:exon5:c.A860C:p.E287A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	0.0050	.	0.0046	0.0492	0.0027	0	0	2.557e-05	0	0.0001	0.0001153	3	26028	rs367982311	0.0008	0.0010	0.0009	0.0008	0.0301	0.0008	0.0008	0.0285	0.0279	0.0301	0.0019	0	0	0	0.0002	1.056e-05	0.0018	2.36e-05	0.0077	0.0087	0.0077	0.0076	0.0276	0.0073	0.0071	0.0261	0.0255	0.0276	0	0.0019	0	0	0	0	3.452e-05	0.0048	0	0.131	0.26629	T	0.243	0.24193	T	0.954	0.54400	P	0.771	0.56890	P	0.000000	0.84330	D	0.052416	0.999996	0.58761	D	2.53	0.73802	M	-4.82	0.98198	D	-2.33	0.51646	N	0.612	0.62950	-1.0823	0.06908	T	0.061	0.25346	T	10	0.01501146	0.00315	T	.	.	.	0.758	0.91753	.	.	0.949881530269	0.94935	0.39167391688679437	0.39082	3.3389385424	0.99635	0.54751855135	0.45507	T	0.591705	0.86784	D	0.193603	0.73296	D	0.040321	0.72949	D	0.0555522793102986	0.06450	T	0.963104	0.86259	D	0.48283094	0.66071	0.2510233	0.50705	0.48283094	0.66072	0.2510233	0.50704	-9.964	0.73696	D	.	.	0.432	0.61295	A	.;.	.;.	4.813635	0.78331	26.9	0.99376054518943591	0.61671	0.99144	0.91875	D	AEFI	0.926179	0.90688	D	0.0837762757036789	0.45708	2.822737	0.141518503851585	0.46695	2.911305	0.1658437066339	0.17663	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.13	3.13	0.35090	8.779000	0.91433	8.918000	0.78391	0.353000	0.19991	1.000000	0.71638	1.000000	0.68203	0.583000	0.30967	1.0:0.0:0.0:0.0	11.464	0.49473	796	0.45353	Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001923	0.000000	0.001381	0.009091	0.000000	0.000000	0.000000	0.000000	0.08333	55.27	11	chr1	103620666	.	A	C	55.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.892;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=26.84;MQRankSum=0.578;QD=0.88;ReadPosRankSum=0.238;SOR=0.026	GT:AD:DP:GQ:PL	0/1:55,8:63:65:65,0,1545	5	0	1	1
chr1	103624107	103624107	T	A	exonic	AMY2A	.	nonsynonymous SNV	AMY2A:NM_000699:exon9:c.T1232A:p.I411N	.	586	933	3	0	0	3	0.00160514	.	.	.	2733128	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.003	0.0112264755656	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1306702529	2.087e-05	5.679e-05	9.69e-06	3.217e-05	0.0002	1.481e-05	1.285e-05	0.0001	0.0001	3.017e-05	0	0	7.585e-05	0	0	8.195e-06	0	0.0002	6.722e-05	7.965e-05	7.204e-05	6.203e-05	0.0005	3.456e-05	2.584e-05	9.202e-05	3.764e-05	7.921e-05	0	0.0002	0	0	0	0	1.639e-05	0	0.0005	0.251	0.17069	T	0.475	0.12072	T	0.003	0.11197	B	0.006	0.12133	B	0.879549	0.07226	N	1.071200	1	0.08975	N	2.325	0.66631	M	.	.	.	-0.14	0.09135	N	0.226	0.26111	-1.0031	0.29021	T	0.030	0.13023	T	9	0.09776527	0.17631	T	0.011226	0.28641	T	0.003	0.00094	0.348	0.34436	0.259761712551	0.25597	0.25861674971472615	0.25775	2.68319369211	0.98530	0.538962006569	0.44298	T	0.064785	0.32523	T	-0.266242	0.12179	T	-0.620215	0.11168	T	0.0811656042076549	0.10136	T	0.49835	0.15517	T	0.06437519	0.13653	0.06055695	0.11552	0.06437519	0.13652	0.06055695	0.11552	-4.64	0.32670	T	.	.	0.105	0.19154	B	.;.	.;.	-0.403829	0.02198	0.218	0.35220081207938325	0.02198	0.04428	0.10023	N	AEI	0.144583	0.26758	N	-1.95303701263518	0.00266	0.01143036	-2.04804867769204	0.00241	0.01064786	7.2517517030974E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.94	-4.08	0.03696	-0.184000	0.09693	-4.700000	0.02027	-4.627000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1238:0.2919:0.0:0.5843	6.019	0.18847	796	0.45353	Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, 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	.	.	.	.	.	.	.	.	0.07143	144.53	39	chr1	103624107	.	T	A	144.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.089;DP=352;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=26.65;MQRankSum=-7.791;QD=0.98;ReadPosRankSum=0.118;SOR=0.026	GT:AD:DP:GQ:PL	0/1:128,20:148:99:155,0,3554	6	0	1	0
chr1	108929705	108929705	C	T	exonic	GPSM2	.	nonsynonymous SNV	GPSM2:NM_001321038:exon15:c.C1820T:p.S607F,GPSM2:NM_001321039:exon15:c.C1820T:p.S607F,GPSM2:NM_013296:exon15:c.C1820T:p.S607F	Chudley-McCullough syndrome, Autosomal recessive	10	1509	2	1	0	4	0.00132363	.	.	.	172329	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.836	.	0.0087	0.0071885	0.0023	0.0268	0.0007	0	0	1.515e-05	0	6.095e-05	0.0022833	353	154602	rs35322815	0.0008	0.0008	0.0009	0.0006	0.0261	0.0007	0.0007	0.0246	0.0241	0.0261	0.0012	0	0	0	0.0009	3.15e-05	0.0020	0.0001	0.0072	0.0073	0.0079	0.0066	0.0252	0.0069	0.0067	0.0239	0.0234	0.0252	0	0.0024	0	0	0	0	4.41e-05	0.0085	0	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.983	0.75793	D	0.000000	0.84330	D	0.053767	1	0.81001	D	3.175	0.88760	M	-3.52	0.94729	D	-4.72	0.79998	D	0.812	0.80767	1.014	0.97432	D	0.917	0.97240	D	10	0.018236428	0.00395	T	.	.	.	0.836	0.94840	.	.	0.993241518062	0.99316	0.3861258562932512	0.38527	0.924097085248	0.71571	0.616739332676	0.55268	T	0.624171	0.88264	D	-0.112055	0.34428	T	0.0858606	0.75969	D	0.0278651169423726	0.01668	T	0.987501	0.95747	D	0.8415192	0.86717	0.8512265	0.91585	0.88296306	0.89914	0.82289207	0.89725	-11.767	0.83697	D	0.4525350452496373	0.53610	0.350	0.57486	A	.;.;.	.;.;.	4.760525	0.76968	26.6	0.9978482479902383	0.87131	0.99057	0.90596	D	AEFBI	0.871912	0.79352	D	0.928112828802992	0.93067	11.80099	0.896342888548824	0.95412	13.59639	0.99999999812227	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	7.568000	0.81546	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.637	0.95731	861	0.33516	GoLoco motif|GoLoco motif|GoLoco motif;GoLoco motif|GoLoco motif|GoLoco motif;GoLoco motif|GoLoco motif|GoLoco motif	.	.	.	.	.	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	0.003027	0.000000	0.006793	0.000000	0.000000	0.000000	0.003086	0.000000	0.07143	858.83	34	chr1	108929705	.	C	T	858.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.091;DP=230;ExcessHet=0;FS=5.528;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.84;ReadPosRankSum=3.12;SOR=0.163	GT:AD:DP:GQ:PL	0/1:20,31:51:99:869,0,591	6	0	1	0
chr1	110341408	110341408	C	T	exonic	RBM15	.	nonsynonymous SNV	RBM15:NM_001201545:exon1:c.C2003T:p.A668V,RBM15:NM_022768:exon1:c.C2003T:p.A668V	Megakaryoblastic leukemia, acute	422	1039	57	4	0	65	0.0303313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0048	0.00559105	0.0061	0.0010	0.0040	0	0.0030	0.0067	0.0077	0.0129	0.0059572	921	154602	rs150900331	0.0060	0.0060	0.0056	0.0064	0.0229	0.0059	0.0058	0.0197	0.0185	0.0011	0.0042	0.0147	0	0.0034	0.0229	0.0056	0.0073	0.0127	0.0051	0.0051	0.0049	0.0052	0.0137	0.0048	0.0046	0.0110	0.0101	0.0009	0.0033	0.0054	0.0124	0.0002	0.0031	0.0238	0.0071	0.0076	0.0137	0.117	0.28271	T	0.312	0.19599	T	0.0	0.02946	B	0.0	0.01387	B	0.494839	0.12016	N	0.710757	1	0.08975	N	0.345	0.11182	N	2.2	0.18570	T	-1.7	0.40468	N	0.055	0.03175	-0.9287	0.44328	T	0.009	0.03227	T	10	0.0030899048	0.00051	T	.	.	.	0.027	0.05988	.	.	0.117191471859	0.11215	0.2182879860972043	0.21744	0.713490700197	0.61819	0.405892670155	0.25888	T	0.297953	0.67053	T	-0.665341	0.00058	T	-0.717462	0.04919	T	0.00200101687308719	0.00021	T	0.679332	0.28809	T	0.04694136	0.07941	0.08194425	0.18665	0.04694136	0.07941	0.08194425	0.18664	-4.584	0.32322	T	.	.	0.073	0.08272	B	.;.;.;.;.	.;.;.;.;.	1.796698	0.22840	15.78	0.95988238114539981	0.28380	0.33658	0.24881	N	ALL	0.181846	0.30916	N	-1.0320615013265	0.07945	0.3707962	-0.968512324056755	0.10497	0.529055	0.999999987827702	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.662433	0.64102	0	.	.	4.87	0.956	0.18731	0.682000	0.25015	0.428000	0.18294	-0.182000	0.10109	0.001000	0.13787	0.031000	0.21272	0.986000	0.61781	0.0:0.6211:0.0:0.3789	8.347	0.31441	872	0.31118	.;.;.;.;.	LAMTOR5	Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely benign	0	0	0	0	0	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	0.015152	0.021739	0.008772	0.150000	0.025862	0.024390	0.026515	0.2143	4546.05	106	chr1	110341408	.	C	T	4546.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.583;DP=526;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.839;SOR=0.704	GT:AD:DP:GQ:PL	0/1:91,63:154:99:1526,0,2391	4	0	3	0
chr1	111760793	111760793	G	C	exonic	DDX20	.	nonsynonymous SNV	DDX20:NM_007204:exon5:c.G768C:p.K256N	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00670196620199	0.0016	0.00119808	0.0006	0.0046	0.0006	0	0	0.0002	0.0044	0	0.0006209	96	154602	rs139212011	0.0004	0.0004	0.0004	0.0004	0.0039	0.0003	0.0003	0.0034	0.0032	0.0039	0.0015	0	0	0	0.0024	0.0002	0.0010	5.8e-05	0.0013	0.0013	0.0013	0.0012	0.0037	0.0011	0.0011	0.0032	0.0030	0.0037	0	0.0013	0	0	0	0.0068	0.0002	0.0014	0	0.073	0.34800	T	0.208	0.26883	T	0.007	0.14184	B	0.011	0.15521	B	0.000721	0.42129	D	0.220615	1	0.81001	D	1.27	0.32069	L	3.54	0.04799	T	-1.6	0.38540	N	0.233	0.26233	-0.9434	0.42073	T	0.005	0.01725	T	10	0.01062417	0.00236	T	0.006702	0.17699	T	0.032	0.07718	0.513	0.61153	0.436455679973	0.43264	0.4109204385920241	0.41008	0.115387954298	0.13013	0.43442684412	0.29814	T	0.151682	0.49174	T	-0.637526	0.00086	T	-0.689058	0.06444	T	0.0139311103568036	0.00266	T	0.869313	0.57326	D	0.30608582	0.53445	0.22908743	0.47969	0.30608582	0.53445	0.22908743	0.47968	-10.23	0.75277	D	.	.	0.286	0.51798	B	.	.	2.874624	0.38022	20.6	0.99449309306103828	0.65172	0.87094	0.46531	D	AEFBI	0.138873	0.26029	N	-0.378168532474755	0.26248	1.431103	-0.224436870475136	0.30662	1.728398	0.999790076765231	0.43153	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.26	2.37	0.28337	0.892000	0.27957	3.130000	0.36437	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.385:0.0:0.615:0.0	8.306	0.31205	885	0.28214	Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.025253	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1570.53	39	chr1	111760793	.	G	C	1570.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=367;ExcessHet=0;FS=0.726;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.2;SOR=0.572	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1581,0,1237	6	0	1	0
chr1	113590583	113590583	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G863A:p.R288K,MAGI3:NM_152900:exon5:c.G863A:p.R288K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.00896097887866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.723	0.10412	T	0.809	0.03956	T	0.575	0.42036	P	0.312	0.41466	B	0.000000	0.84330	D	0.000000	0.971329	0.38862	D	1.39	0.34934	L	2.59	0.15492	T	-0.14	0.09135	N	0.259	0.29313	-1.1527	0.00947	T	0.041	0.17827	T	10	0.1921995	0.34939	T	0.008961	0.23607	T	0.179	0.44899	0.507	0.60232	0.2338531098	0.23012	0.34597555151133935	0.34511	0.270303575424	0.29553	0.593499541283	0.51988	T	0.117585	0.43778	T	-0.114767	0.33982	T	-0.402632	0.33078	T	0.348236995317005	0.26950	T	0.841416	0.51702	T	0.26901373	0.49973	0.24551496	0.50041	0.26901373	0.49973	0.24551496	0.50039	-1.841	0.02634	T	.	.	0.122	0.25560	B	.;.;.;.	.;.;.;.	3.790096	0.54550	23.5	0.91455565075952261	0.20725	0.95188	0.63763	D	AEFDI	0.493025	0.52941	N	0.282292615830775	0.55249	3.689253	0.339121418160715	0.57854	3.952976	0.239802614676756	0.18558	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	5.9	0.94952	4.523000	0.60261	8.628000	0.77841	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.256	0.98419	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	.	.	.	.	.	.	.	.	0.07143	203.49	50	chr1	113590583	.	G	A	203.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.265;DP=297;ExcessHet=0;FS=71.696;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=1.86;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,19:94:99:0|1:113590583_G_A:214,0,2918:113590583	6	0	1	0
chr1	113590585	113590585	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G865A:p.D289N,MAGI3:NM_152900:exon5:c.G865A:p.D289N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0151603214366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.27783	T	0.104	0.41573	T	0.002	0.60036	B	0.011	0.54779	B	0.000000	0.84330	N	0.090924	0.999986	0.54805	D	1.9	0.50570	L	2.56	0.15261	T	-1.32	0.32991	N	0.181	0.20262	-1.1289	0.01836	T	0.030	0.13111	T	10	0.22006467	0.38693	T	0.01516	0.35730	T	0.118	0.32913	0.223	0.14665	0.263709349026	0.25991	0.43561538745645495	0.43478	0.210437242792	0.23534	0.577588796616	0.49746	T	0.099054	0.40348	T	-0.310918	0.07667	T	-0.684388	0.06720	T	0.807889938354492	0.46898	D	0.831217	0.49813	T	0.20614052	0.42778	0.11951168	0.28846	0.20614052	0.42778	0.11951168	0.28845	-8.674	0.69551	D	.	.	0.190	0.40794	B	.;.;.;.	.;.;.;.	4.061134	0.60272	24.2	0.95624117114733098	0.27396	0.98484	0.83265	D	AEFDI	0.878165	0.80325	D	0.0130293127792656	0.42447	2.55771	0.0819163579536462	0.43640	2.661558	0.788624192413497	0.23975	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.04	0.46262	6.343000	0.72935	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1354:0.0:0.8646:0.0	12.408	0.54785	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	1267.28	37	chr1	113590585	.	G	A	1267.28	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.549;DP=415;ExcessHet=1.1394;FS=333.805;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=4.14;ReadPosRankSum=2.06;SOR=8.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,19:94:99:0|1:113590583_G_A:214,0,2918:113590583	3	0	2	2
chr1	113590588	113590588	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G868A:p.E290K,MAGI3:NM_152900:exon5:c.G868A:p.E290K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.00846044021037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.40319	T	0.293	0.43721	T	0.982	0.60036	D	0.918	0.65394	D	0.000007	0.62929	N	0.142947	0.999997	0.58761	D	2.51	0.73131	M	2.51	0.16794	T	-2.65	0.56787	D	0.433	0.47208	-1.0942	0.04869	T	0.064	0.26597	T	10	0.22067726	0.38771	T	0.00846	0.22382	T	0.413	0.72404	0.48	0.55983	0.244449712813	0.24043	0.47696213348357347	0.47616	0.638098247504	0.57551	0.653341531754	0.60460	T	0.133462	0.46416	T	0.0773476	0.61730	D	-0.126672	0.61251	T	0.983229577541351	0.74971	D	0.952605	0.81930	D	0.3622676	0.58009	0.24027264	0.49397	0.3622676	0.58009	0.24027264	0.49396	-10.586	0.77340	D	.	.	0.310	0.53747	B	.;.;.;.	.;.;.;.	4.747328	0.76619	26.5	0.99690218298802658	0.79909	0.99231	0.93164	D	AEFDI	0.898106	0.84102	D	0.382962876515898	0.60497	4.239429	0.358229968975361	0.59003	4.074818	0.999345317012579	0.39222	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.98	0.65679	9.560000	0.97249	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.8675:0.1325	16.441	0.83741	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	1264.88	35	chr1	113590588	.	G	A	1264.88	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.679;DP=424;ExcessHet=1.1394;FS=333.935;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=2.07;SOR=8.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,19:93:99:0|1:113590583_G_A:217,0,2892:113590583	2	0	3	2
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D,MAGI3:NM_152900:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	1784.33	27	chr1	113590590	.	G	C	1784.33	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.12;DP=426;ExcessHet=3.1439;FS=635.154;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=1.19;SOR=9.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,19:90:99:.:.:440,0,2729:.	1	0	4	2
chr1	113590597	113590597	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G877A:p.E293K,MAGI3:NM_152900:exon5:c.G877A:p.E293K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.00424447028335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.44358	T	0.033	0.53072	D	0.936	0.55554	P	0.81	0.58608	P	0.000001	0.84330	D	0.098174	0.999979	0.53665	D	1.225	0.30651	L	2.54	0.15843	T	-0.98	0.25986	N	0.582	0.63713	-1.0871	0.06030	T	0.041	0.17615	T	10	0.34597075	0.51560	T	0.004244	0.10247	T	0.344	0.66582	0.499	0.58991	0.0934897674506	0.08844	0.7044464026243406	0.70386	0.614339336528	0.55958	0.594983875751	0.52196	T	0.117834	0.43822	T	-0.074423	0.40618	T	-0.34468	0.39814	T	0.936187207698822	0.60499	D	0.942906	0.81072	D	0.28822857	0.51827	0.23320168	0.48503	0.28822857	0.51827	0.23320168	0.48502	-14.977	0.95798	D	.	.	0.708	0.73276	P	.;.;.;.	.;.;.;.	4.472077	0.69692	25.4	0.9981885909623377	0.90150	0.99231	0.93164	D	AEFDI	0.898106	0.84102	D	0.2454207515239	0.53412	3.510231	0.265188684991688	0.53517	3.520339	0.999345317012579	0.39222	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.98	0.65679	9.560000	0.97249	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8675:0.1325	16.441	0.83741	538	0.73119	.;WW domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	960.06	35	chr1	113590597	.	G	A	960.06	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.176;DP=426;ExcessHet=1.1394;FS=288.527;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=3.1;ReadPosRankSum=1.67;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,19:94:99:0|1:113590583_G_A:181,0,2930:113590583	4	0	3	0
chr1	114600348	114600348	A	G	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon12:c.T1790C:p.I597T,DENND2C:NM_001256404:exon15:c.T1961C:p.I654T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0161000532973	7.7e-05	.	2.474e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs372506444	9.578e-06	9.577e-06	9.53e-06	9.627e-06	0.0003	5.56e-06	4.35e-06	0.0002	0.0001	0.0003	0	0	0	0	0	0	3.312e-05	1.16e-05	4.6e-05	4.596e-05	2.57e-05	6.726e-05	0.0002	2.109e-05	1.527e-05	7.892e-05	5.588e-05	0.0002	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	0.051	0.45105	B	0.13	0.51027	B	0.000150	0.49130	D	0.136431	0.99995	0.81001	D	2.365	0.68172	M	2.66	0.12575	T	-3.9	0.72932	D	0.574	0.66272	-1.1731	0.00482	T	0.047	0.19958	T	10	0.38153833	0.54231	T	0.016	0.37187	T	0.262	0.57482	.	.	0.335910606209	0.33200	0.6821492249675575	0.68153	0.333024586191	0.35342	0.427179783583	0.28823	T	0.022533	0.17353	T	-0.160159	0.26735	T	-0.171641	0.57293	T	0.623746871948242	0.37360	D	0.963804	0.86607	D	0.66635686	0.76238	0.63209933	0.78534	0.66635686	0.76239	0.63209933	0.78535	-9.191	0.69682	D	.	.	0.145	0.44345	B	.;.;.	.;.;.	4.681268	0.74909	26.2	0.99664871227396656	0.78202	0.98565	0.84156	D	AEFDBI	0.672734	0.63903	D	0.382510104620311	0.60474	4.236729	0.470930588484467	0.66072	4.904681	0.999994013955403	0.74766	0.554377	0.28877	0	0.486142	0.07564	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	5.012000	0.63775	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	16.336	0.82894	737	0.53483	.;cDENN domain|Tripartite DENN domain|cDENN domain;cDENN domain|Tripartite DENN domain|cDENN 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	1422.44	34	chr1	114600348	.	A	G	1422.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.347;DP=296;ExcessHet=0;FS=2.414;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.411;SOR=0.486	GT:AD:DP:GQ:PL	0/1:51,63:114:99:1433,0,1114	6	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1393.41	90	chr1	114732648	.	C	G	1393.41	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.763;DP=766;ExcessHet=4.7409;FS=287.227;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=1.54;SOR=11.262	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,55:153:99:.:.:444,0,1141:.	2	0	5	0
chr1	115286582	115286582	C	T	exonic	NGF	.	nonsynonymous SNV	NGF:NM_002506:exon3:c.G214A:p.V72M	Neuropathy, hereditary sensory and autonomic, type V, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	447175	not_provided|not_specified|NGF-related_disorder|Congenital_sensory_neuropathy_with_selective_loss_of_small_myelinated_fibers	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654,Orphanet:64752	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.197	.	0.0062	0.00678914	0.0020	0.0222	0.0010	0	0	7.503e-05	0.0011	0	0.0019922	308	154602	rs11466110	0.0007	0.0007	0.0008	0.0006	0.0222	0.0006	0.0006	0.0208	0.0203	0.0222	0.0012	0	0	0	0.0021	6.205e-05	0.0018	4.637e-05	0.0067	0.0067	0.0069	0.0065	0.0237	0.0064	0.0062	0.0225	0.0220	0.0237	0	0.0015	0	0	0	0	0.0001	0.0043	0.0002	0.38	0.11191	T	0.191	0.28391	T	1.0	0.90584	D	0.98	0.74843	D	0.000001	0.62929	D	0.055974	0.999997	0.58761	D	1.925	0.51371	L	-0.32	0.68181	T	-1.48	0.36189	N	0.227	0.25499	-0.6417	0.63073	T	0.316	0.68602	T	10	0.008228123	0.00187	T	.	.	.	0.197	0.47942	.	.	0.67929933533	0.67657	0.5717152784642255	0.57099	1.1107814178	0.78050	0.738262176514	0.72716	T	0.259782	0.63109	T	-0.439316	0.01305	T	-0.386238	0.34992	T	0.0128651752257827	0.00220	T	0.964603	0.86885	D	0.18758969	0.40220	0.18838458	0.42125	0.18758969	0.40219	0.18838458	0.42124	-5.576	0.42573	T	0.293219383976122	0.38998	0.398	0.59460	A	.	.	2.612455	0.33929	19.48	0.99768900788741099	0.85750	0.98177	0.80270	D	AEFBI	0.695359	0.65405	D	0.473625243197483	0.65556	4.83727	0.471733607816886	0.66124	4.911385	0.999999999996955	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	2.609000	0.45981	4.892000	0.45774	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.861000	0.40843	0.0:1.0:0.0:0.0	17.567	0.87821	186	0.92733	.	.	.	.	.	.	Likely benign	0	0	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	0.006048	0.010101	0.012228	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1910.46	36	chr1	115286582	.	C	T	1910.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.662;DP=352;ExcessHet=0;FS=2.759;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.037;SOR=0.509	GT:AD:DP:GQ:PL	0/1:84,77:161:99:1921,0,2137	6	0	1	0
chr1	121373974	121373974	A	G	exonic	SRGAP2C	.	nonsynonymous SNV	SRGAP2C:NM_001271872:exon6:c.A490G:p.M164V,SRGAP2C:NM_001329984:exon6:c.A490G:p.M164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0008	.	.	.	.	7.666e-05	8.747e-05	4.074e-05	0.0001	0.0006	5.799e-05	5.129e-05	0.0005	0.0004	0	0	0	0	0	0	3.294e-06	3.433e-05	0.0006	0	6.621e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.011	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.543	0.63713	.	.	.	.	.	.	.	0.24727044	0.42005	T	.	.	.	.	.	.	.	0.137902524267	0.13322	0.5598167328699968	0.55908	.	.	.	.	.	0.213159	0.57440	T	0.00809938	0.52766	T	0.0532928	0.73801	D	.	.	.	0.987268	0.95662	D	0.29551363	0.52500	0.7119626	0.83006	0.29551363	0.52500	0.7119626	0.83007	-10.106	0.74544	D	.	.	0.294	0.55089	B	.;.	.;.	4.576315	0.72255	25.8	0.90638981758437165	0.19891	0.95904	0.66656	D	AEFBIJ	.	.	.	.	.	.	.	.	.	0.0413265680525959	0.14479	0.139865	0.03177	0	0.097471	0.02872	0	0.175069	0.04249	0	0.344016	0.05766	0	0.757117	0.44945	2.35	2.35	0.28166	9.122000	0.93691	11.282000	0.91772	0.359000	0.20063	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	8.251	0.30884	976	0.04745	F-BAR domain;F-BAR 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	.	.	.	.	.	.	.	.	0.1667	491.91	8	chr1	121373974	.	A	G	491.91	.	AC=2;AF=0.167;AN=12;DP=102;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=28.9;QD=24.6;SOR=1.127	GT:AD:DP:GQ:PL	1/1:0,20:20:60:511,60,0	5	1	0	1
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	.	.	.	.	.	.	.	.	0.2857	245.64	63	chr1	145872714	.	C	G	245.64	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.041;DP=635;ExcessHet=2.5225;FS=134.218;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=-0.141;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,22:152:50:.:.:50,0,4170:.	3	0	4	0
chr1	152354961	152355191	GAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC	-	exonic	FLG2	.	nonframeshift deletion	FLG2:NM_001014342:exon3:c.2595_2825del:p.S869_T945del	.	431	1042	9	40	0	89	0.0409572	.	.	.	970660	Peeling_skin_syndrome_6	MONDO:MONDO:0054852,MedGen:C4748093,OMIM:618084	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0191	0.0006	0.0400	0.0837	0.0047	0.0089	0.0187	0.0291	.	.	.	.	0.0081	0.0082	0.0075	0.0087	0.0761	0.0080	0.0079	0.0738	0.0729	0.0005	0.0381	0.0193	0.0761	0.0037	0.0142	0.0032	0.0101	0.0253	0.0039	0.0046	0.0039	0.0039	0.0185	0.0037	0.0035	0.0154	0.0143	0.0005	0.0011	0.0088	0.0145	0.0185	0.0033	0.0076	0.0033	0.0015	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	19774.2	217	chr1	152354960	.	TGAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC	T	19774.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.5;DP=2197;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=57.48;MQRankSum=2.64;QD=33.63;ReadPosRankSum=1.26;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,586:588:99:1|1:152354960_TGAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC_T:19795,1703,0:152354960	6	1	0	0
chr1	152354993	152354993	C	0	exonic	FLG2	.	.	.	.	444	778	241	13	46	313	0.146462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	11219.2	382	chr1	152354993	.	C	*	11219.2	.	AC=2;AF=0.2;AN=10;BaseQRankSum=4.32;DP=2929;ExcessHet=0.0921;FS=0.532;MLEAC=2;MLEAF=0.2;MQ=59;MQRankSum=-4.624;QD=7.12;ReadPosRankSum=-0.344;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,584:586:99:1|1:152354960_TGAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC_T:25635,2051,0:152354960	4	1	0	2
chr1	152355026	152355026	A	0	exonic	FLG2	.	.	.	.	449	805	212	10	46	278	0.12595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	6069.23	319	chr1	152355026	.	A	*	6069.23	.	AC=2;AF=0.2;AN=10;BaseQRankSum=4.84;DP=2866;ExcessHet=0.0921;FS=0.537;MLEAC=2;MLEAF=0.2;MQ=58.97;MQRankSum=-6.447;QD=3.76;ReadPosRankSum=-5.382;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,812:814:99:1|1:152354960_TGAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC_T:26473,2389,0:152354960	4	1	0	2
chr1	152355050	152355050	T	0	exonic	FLG2	.	.	.	.	451	858	159	8	46	221	0.0925436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1060.23	299	chr1	152355050	.	T	*	1060.23	.	AC=2;AF=0.2;AN=10;BaseQRankSum=6.17;DP=2674;ExcessHet=0.0921;FS=0;MLEAC=2;MLEAF=0.2;MQ=59.06;MQRankSum=-9.543;QD=0.69;ReadPosRankSum=-6.237;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,812:814:99:1|1:152354960_TGAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC_T:26473,2389,0:152354960	4	1	0	2
chr1	152972074	152972074	C	A	exonic	SPRR4	.	nonsynonymous SNV	SPRR4:NM_173080:exon2:c.C184A:p.P62T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00421036522444	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201775282	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	0.997	0.70673	D	0.939	0.67449	D	0.929157	0.08433	N	0.954858	0.985934	0.24664	N	.	.	.	2.86	0.10482	T	-7.0	0.93697	D	0.191	0.20925	-1.0830	0.06776	T	0.041	0.17700	T	9	0.21751636	0.38366	T	0.00421	0.10153	T	0.097	0.27909	0.149	0.05238	0.110392049598	0.10638	0.009713096195936261	0.00933	0.00368128596525	0.00316	.	.	.	0.070377	0.33944	T	-0.248055	0.14339	T	-0.497236	0.22634	T	0.591302096843719	0.36057	D	0.512749	0.16428	T	0.46061102	0.64709	0.4637216	0.68869	0.46061102	0.64709	0.4637216	0.68869	-4.546	0.31486	T	.	.	0.072	0.04356	B	.	.	0.889697	0.12634	9.157	0.74436478686872409	0.10695	0.11528	0.16693	N	AEFBI	0.039802	0.05833	N	0.0332130897786088	0.43370	2.631346	-0.133746130419857	0.34039	1.953654	0.999258945674156	0.38906	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.52	3.52	0.39415	0.250000	0.18007	.	.	0.549000	0.26987	0.000000	0.06391	0.001000	0.17328	0.688000	0.33778	0.0:1.0:0.0:0.0	10.873	0.46104	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	5493.22	33	chr1	152972074	.	C	A	5493.22	.	AC=2;AF=0.143;AN=14;DP=372;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.02;SOR=0.947	GT:AD:DP:GQ:PL	1/1:0,183:183:99:5514,547,0	6	1	0	0
chr1	156266023	156266023	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1475T:p.T492I,SMG5:NM_001323614:exon12:c.C1613T:p.T538I,SMG5:NM_015327:exon12:c.C1613T:p.T538I,SMG5:NM_001323616:exon13:c.C1415T:p.T472I,SMG5:NM_001323617:exon13:c.C1415T:p.T472I	.	426	1082	13	1	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00448310815964	.	0.000798722	0.0007	9.621e-05	0.0002	0.0001	0	0.0001	0.0011	0.0041	0.0005821	90	154602	rs199926708	0.0004	0.0004	0.0002	0.0006	0.0046	0.0004	0.0004	0.0042	0.0041	0	2.236e-05	0	0	0	0.0021	0.0001	0.0004	0.0046	0.0003	0.0003	0.0002	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	0	0	0	0	0.0004	0	0	0.0002	0	0.0052	0.11	0.29158	T	0.152	0.32249	T	0.0	0.02946	B	0.0	0.01387	B	0.024058	0.26331	N	0.412877	1	0.81001	D	0	0.06538	N	1.51	0.30937	T	-0.55	0.16799	N	0.132	0.12770	-1.0878	0.05908	T	0.024	0.10148	T	10	0.002447158	0.00037	T	0.004483	0.11000	T	0.100	0.28662	.	.	0.24933006939	0.24537	0.13302939099555572	0.13226	0.30959749131	0.33265	0.335560500622	0.15773	T	0.019821	0.15719	T	-0.604954	0.00136	T	-0.641347	0.09571	T	0.025584432604545	0.01350	T	0.642936	0.25461	T	0.06652615	0.14321	0.06867833	0.14374	0.06652615	0.14321	0.06867833	0.14374	-5.204	0.38982	T	.	.	0.080	0.07602	B	.	.	1.122900	0.15086	11.58	0.95060026002545306	0.26087	0.58794	0.30738	D	AEFGBCI	0.345821	0.44084	N	-0.501987002992586	0.22015	1.172604	-0.365006010001851	0.26050	1.436355	0.999999922507454	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	2.628000	0.46143	2.551000	0.33264	0.676000	0.76740	0.112000	0.23030	0.090000	0.22521	0.951000	0.49849	0.0:0.0:1.0:0.0	17.010	0.86277	290	0.88477	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.2857	8841.84	33	chr1	156266023	.	G	A	8841.84	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.592;DP=575;ExcessHet=0.0921;FS=1.195;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=19.01;ReadPosRankSum=-0.785;SOR=0.583	GT:AD:DP:GQ:PL	1/1:0,150:150:99:4710,450,0	4	1	2	0
chr1	156530193	156530193	C	T	exonic	IQGAP3	.	nonsynonymous SNV	IQGAP3:NM_178229:exon34:c.G4316A:p.R1439H	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.0396552663372	.	0.000199681	5.493e-05	0	0	0	0	3.282e-05	0	0.0003	4.53e-05	7	154602	rs201439773	6.847e-05	6.977e-05	4.768e-05	8.948e-05	0.0005	5.718e-05	5.331e-05	0.0004	0.0003	0	0	0	2.521e-05	0	0.0002	4.228e-05	0.0001	0.0005	5.909e-05	5.905e-05	3.855e-05	8.055e-05	0.0004	3.075e-05	2.208e-05	7.29e-05	3.029e-05	2.405e-05	0	0	0	0.0004	0	0	5.88e-05	0	0.0004	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.986	0.76916	D	0.000506	0.43753	D	0.180937	0.929592	0.36931	D	2.65	0.77586	M	0.89	0.45636	T	-2.94	0.61435	D	0.357	0.39861	-0.7712	0.56792	T	0.172	0.51325	T	10	0.2638523	0.43867	T	0.039655	0.58934	D	0.291	0.61040	.	.	0.735594876934	0.73323	0.3049500561761809	0.30408	0.690861133062	0.60560	0.496938049793	0.38401	T	0.23355	0.60038	T	-0.343355	0.05159	T	-0.407039	0.32567	T	0.610886752605438	0.36836	D	0.914708	0.69569	D	0.20485762	0.42609	0.1754461	0.40011	0.20485762	0.42609	0.1754461	0.40010	-5.467	0.41559	T	.	.	0.098	0.16099	B	.	.	3.871675	0.56212	23.7	0.99935227491344891	0.99579	0.74768	0.36584	D	AEFDGBI	0.127245	0.24453	N	0.386034027732741	0.60663	4.257906	0.246918450097902	0.52473	3.422021	0.999947808557936	0.47345	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.5	4.5	0.54382	2.977000	0.48988	3.215000	0.36822	0.581000	0.30040	0.997000	0.40164	0.997000	0.33255	0.789000	0.37270	0.0:0.9049:0.0:0.0951	10.471	0.43822	567	0.70732	RasGAP protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.2143	11280.7	76	chr1	156530193	.	C	T	11280.7	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.856;DP=630;ExcessHet=0;FS=0.456;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=31.51;ReadPosRankSum=-0.891;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,199:199:99:1|1:156530177_T_C:8546,599,0:156530177	5	1	1	0
chr1	159782256	159782256	A	T	exonic	DUSP23	.	nonsynonymous SNV	DUSP23:NM_001319658:exon2:c.A371T:p.E124V,DUSP23:NM_001319659:exon3:c.A371T:p.E124V,DUSP23:NM_017823:exon3:c.A371T:p.E124V	.	421	1086	14	1	0	16	0.00731261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.140856028591	0.0050	0.00219649	0.0052	0.0005	0.0012	0	0.0020	0.0079	0.0044	0.0041	0.0052069	805	154602	rs11544443	0.0061	0.0061	0.0062	0.0061	0.0070	0.0060	0.0060	0.0068	0.0068	0.0009	0.0018	0.0075	2.519e-05	0.0021	0.0023	0.0070	0.0060	0.0049	0.0040	0.0040	0.0043	0.0036	0.0066	0.0037	0.0036	0.0061	0.0059	0.0009	0	0.0018	0.0081	0	0.0014	0	0.0066	0.0052	0.0065	0.148	0.24857	T	0.056	0.46632	T	0.964	0.55854	D	0.756	0.56253	P	0.000113	0.50451	D	0.139150	0.99992	0.51308	D	2.565	0.75005	M	-1.89	0.84557	D	-4.86	0.81187	D	0.66	0.67564	-0.1009	0.80078	T	0.518	0.81966	D	10	0.015188992	0.00319	T	0.140856	0.82329	D	0.541	0.80842	.	.	0.925407252809	0.92464	0.7996346021257574	0.79917	0.491495775432	0.47841	0.668933808804	0.62685	T	0.428778	0.77780	T	-0.212748	0.18994	T	-0.0718355	0.65496	T	0.0297476654947831	0.01950	T	0.945705	0.79334	D	0.67713505	0.76815	0.49208406	0.70619	0.67713505	0.76816	0.49208406	0.70620	-8.526	0.64601	D	.	.	0.385	0.58697	A	.;.;.	.;.;.	4.859542	0.79503	27.1	0.98633325170900865	0.43947	0.92422	0.55675	D	AEFDGBCI	0.921554	0.89521	D	0.464628535523727	0.65036	4.772421	0.441524274570444	0.64176	4.666679	0.999999982191653	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.638787	0.57140	0	.	.	4.32	4.32	0.50899	6.992000	0.76004	8.004000	0.76162	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	11.502	0.49693	929	0.16858	Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic;Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic;Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002924	0.000000	0.017241	0.006098	0.000000	0.2143	5473.72	35	chr1	159782256	.	A	T	5473.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.219;DP=436;ExcessHet=0;FS=1.021;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=19.62;ReadPosRankSum=-0.795;SOR=0.769	GT:AD:DP:GQ:PL	1/1:0,134:134:99:3937,402,0	5	1	1	0
chr1	161158460	161158460	G	A	exonic	UFC1	.	nonsynonymous SNV	UFC1:NM_016406:exon6:c.G472A:p.V158I	.	429	1091	2	0	0	2	0.000915751	.	.	.	2434019	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.00514771931186	.	.	4.119e-05	0	8.639e-05	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs772312889	4.925e-05	4.925e-05	3.403e-05	6.463e-05	0.0007	3.992e-05	3.669e-05	0.0002	0.0001	0	0.0001	0	0	0	0.0007	3.507e-05	6.623e-05	0.0002	4.6e-05	4.597e-05	5.139e-05	4.036e-05	0.0001	2.11e-05	1.527e-05	2.261e-05	9.07e-06	4.828e-05	0	0.0001	0	0	0	0	4.41e-05	0	0	0.51	0.07497	T	0.499	0.11227	T	0.0	0.02946	B	0.001	0.04355	B	0.171837	0.17352	N	0.502377	0.988537	0.24399	N	1.24	0.30952	L	0.92	0.44461	T	-0.15	0.09297	N	0.054	0.02559	-0.9674	0.37733	T	0.015	0.06138	T	10	0.050819278	0.04872	T	0.005148	0.13094	T	0.064	0.18567	0.544	0.65731	0.286081765059	0.28222	0.2995151108597193	0.29864	0.242357803687	0.26745	0.400341570377	0.25116	T	0.037564	0.24522	T	-0.487929	0.00667	T	-0.664353	0.07975	T	0.0231671333312988	0.01043	T	0.842916	0.51943	T	0.11564455	0.27285	0.045510508	0.06140	0.11564455	0.27285	0.045510508	0.06140	-4.477	0.30586	T	0.12982902589927592	0.13598	0.057	0.00553	B	.	.	1.929016	0.24498	16.42	0.82693167709186977	0.14325	0.18225	0.20172	N	AEFDBCI	0.343467	0.43927	N	-0.695511988420684	0.16150	0.8202279	-0.545538195947103	0.20923	1.129553	0.999999079326733	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.42	2.5	0.29355	0.502000	0.22302	4.178000	0.42318	0.671000	0.69459	0.183000	0.24101	1.000000	0.68203	0.962000	0.52141	0.1914:0.2765:0.5321:0.0	5.240	0.14784	310	0.87484	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	923.53	36	chr1	161158460	.	G	A	923.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.011;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=0.375;SOR=0.68	GT:AD:DP:GQ:PL	0/1:66,43:109:99:934,0,1621	6	0	1	0
chr1	169593677	169593677	C	T	exonic	SELP	.	nonsynonymous SNV	SELP:NM_003005:exon14:c.G2335A:p.V779M	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00900363455571	7.7e-05	0.000599042	0.0003	0	0	0	0	0	0.0011	0.0022	0.0002587	40	154602	rs377161237	0.0002	0.0002	0.0001	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	2.99e-05	0	0	0	0	0.0002	2.699e-06	0.0003	0.0024	0.0001	0.0001	6.424e-05	0.0002	0.0031	8.659e-05	7.252e-05	0.0019	0.0015	9.626e-05	0	0	0	0.0002	0	0	0	0	0.0031	0.064	0.38407	T	0.04	0.54541	D	.	.	.	.	.	.	0.018760	0.27412	N	0.255316	0.999547	0.27999	N	.	.	.	2.06	0.28189	T	-1.29	0.32387	N	0.376	0.46555	-1.0947	0.04795	T	0.033	0.14073	T	10	0.012323827	0.00265	T	0.009004	0.23702	T	0.082	0.23913	.	.	0.314417295294	0.31040	0.48607025436450213	0.48527	0.126491588652	0.14259	0.370307326317	0.20875	T	0.059	0.30887	T	-0.432395	0.01434	T	-0.400358	0.33342	T	0.0384888360256053	0.03420	T	0.832017	0.49964	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.16626	B	.;.;.;.	.;.;.;.	2.345666	0.30063	18.32	0.99341554214217942	0.60210	0.39133	0.26144	N	AEFBI	0.203934	0.33041	N	-0.0663899021762433	0.38874	2.283547	-0.0467434511143918	0.37632	2.205989	0.999362969463397	0.39301	0.623552	0.39893	0	0.491513	0.07743	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.62	4.7	0.58776	1.005000	0.29436	3.944000	0.40624	0.599000	0.40250	0.727000	0.28892	0.999000	0.35428	0.153000	0.20410	0.171:0.829:0.0:0.0	12.099	0.53070	743	0.52768	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1214.45	34	chr1	169593677	.	C	T	1214.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.092;DP=307;ExcessHet=0;FS=0.664;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=1.05;SOR=0.587	GT:AD:DP:GQ:PL	0/1:67,59:126:99:1225,0,1524	6	0	1	0
chr1	175080252	175080252	C	T	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon4:c.C874T:p.L292F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0169774678587	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs753816847	6.84e-06	6.84e-06	2.722e-06	1.1e-05	0.0001	3.46e-06	2.52e-06	5.395e-05	4.042e-05	0	0	0	0	0	0	0	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.041	0.50514	D	0.73	0.42641	P	0.728	0.55195	P	0.006017	0.32339	N	0.331465	0.505994	0.31686	N	2.135	0.59519	M	0.39	0.57419	T	-3.01	0.62518	D	0.072	0.11340	-0.7218	0.59374	T	0.206	0.56512	T	10	0.21596736	0.38165	T	0.016977	0.38486	T	0.179	0.44899	0.474	0.55020	0.740784487212	0.73845	0.49222371717512126	0.49143	0.129734050754	0.14629	0.39754897356	0.24728	T	0.034629	0.23397	T	-0.343228	0.05168	T	-0.528146	0.19471	T	0.573994696140289	0.35388	D	0.644436	0.26150	T	0.19847086	0.41751	0.24750939	0.50282	0.19847086	0.41751	0.24750939	0.50281	-6.983	0.53909	T	.	.	0.107	0.20508	B	.;.;.	.;.;.	2.841675	0.37494	20.5	0.98882583090296816	0.47859	0.81873	0.41192	D	AEFDBI	0.167508	0.29419	N	-0.214885555519962	0.32522	1.835048	-0.223174366546575	0.30708	1.731301	0.0107553025494294	0.12076	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.69	3.8	0.42887	0.308000	0.19071	0.579000	0.19686	-0.172000	0.11096	0.994000	0.38300	0.929000	0.28499	0.963000	0.52385	0.2324:0.6355:0.0:0.1322	7.905	0.28919	556	0.71678	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1036.49	38	chr1	175080252	.	C	T	1036.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.697;DP=248;ExcessHet=0;FS=0.976;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=0.493;SOR=0.857	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,40:66:99:1|0:175080243_G_A:1047,0,924:175080243	6	0	1	0
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	0.07143	889.45	31	chr1	180928498	.	G	A	889.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=262;ExcessHet=0;FS=0.802;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.651;SOR=0.858	GT:AD:DP:GQ:PL	0/1:48,41:89:99:900,0,964	6	0	1	0
chr1	196950923	196950923	A	G	exonic	CFHR2	.	nonsynonymous SNV	CFHR2:NM_005666:exon3:c.A325G:p.T109A	.	14	1507	1	0	0	1	0.000331675	.	.	.	718475	not_provided|Kidney_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.152	.	0.0053	0.00319489	0.0059	0.0015	0.0020	0	0.0132	0.0083	0.0055	0.0020	0.0057179	884	154602	rs145405649	0.0070	0.0070	0.0070	0.0069	0.0079	0.0069	0.0068	0.0077	0.0077	0.0011	0.0028	0.0040	0	0.0126	0.0005	0.0079	0.0063	0.0016	0.0056	0.0056	0.0054	0.0057	0.0083	0.0053	0.0051	0.0078	0.0075	0.0011	0	0.0060	0.0037	0	0.0104	0	0.0083	0.0043	0.0023	0.082	0.33254	T	0.292	0.20877	T	0.992	0.64738	D	0.887	0.62952	P	0.602829	0.10941	N	0.739627	1	0.08975	N	2.125	0.59049	M	-0.18	0.65747	T	-1.37	0.33998	N	0.047	0.08786	-0.8608	0.51205	T	0.212	0.57201	T	10	0.013218045	0.00281	T	.	.	.	0.152	0.39956	.	.	0.540107908424	0.53663	0.24254632431397596	0.24168	0.0260599837841	0.02663	0.307044804096	0.11460	T	0.007104	0.18336	T	-0.589152	0.00170	T	-0.611518	0.11863	T	0.0175501946756762	0.00489	T	0.441756	0.12777	T	0.05150302	0.09466	0.038709678	0.03798	0.05150302	0.09466	0.038709678	0.03798	-6.759	0.52253	T	.	.	0.096	0.17742	B	.;.;.;.;.	.;.;.;.;.	0.764500	0.11341	7.961	0.94384830372468398	0.24761	0.00638	0.02794	N	AEFBI	0.201121	0.32780	N	-0.697818587383109	0.16084	0.81634	-0.980466073493892	0.10225	0.51359	2.01612459352381E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.77	-1.19	0.09091	-0.161000	0.10014	-2.524000	0.03650	-0.236000	0.07595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4392:0.0:0.3141:0.2467	2.088	0.03430	329	0.86514	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001020	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1239.44	33	chr1	196950923	.	A	G	1239.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.79;DP=320;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.01;MQRankSum=-0.371;QD=8.92;ReadPosRankSum=1.13;SOR=0.68	GT:AD:DP:GQ:PL	0/1:82,57:139:99:1250,0,1830	6	0	1	0
chr1	201216520	201216520	G	C	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon16:c.G9362C:p.R3121P,IGFN1:NM_001367841:exon17:c.G1991C:p.R664P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.153402400799	.	.	6.272e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs761437522	2.333e-05	2.326e-05	5.457e-06	4.142e-05	0.0003	1.679e-05	1.482e-05	0.0003	0.0002	0	0	0	0	0	0.0002	9.015e-07	3.325e-05	0.0003	1.314e-05	1.313e-05	0	2.69e-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	0.004	0.65419	D	0.006	0.70582	D	.	.	.	.	.	.	0.018612	0.27444	N	0.335977	0.999916	0.19599	N	2.16	0.60381	M	0.32	0.58468	T	-3.08	0.63323	D	0.392	0.43320	-0.7730	0.56692	T	0.281	0.65329	T	10	0.5460235	0.63988	D	0.153402	0.83467	D	0.304	0.62510	0.679	0.81691	0.533614126537	0.53011	0.7073640992381506	0.70678	.	.	0.239515602589	0.02747	T	0.042746	0.26280	T	-0.179842	0.23758	T	-0.203958	0.54271	T	0.505417316505681	0.32828	D	0.564644	0.19916	T	0.71787167	0.79043	0.6992201	0.82281	0.71787167	0.79045	0.6992201	0.82282	-12.688	0.88037	D	.	.	0.939	0.85786	P	.;.	.;.	0.666567	0.10352	7.078	0.991316593504872	0.53275	0.11409	0.16615	N	AEFDGBI	0.342298	0.43850	N	0.00711342846805874	0.42179	2.536493	-0.184838440179113	0.32092	1.822479	0.00897090803998913	0.11772	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.06	0.809	0.17866	-0.419000	0.07136	-3.291000	0.02902	-0.136000	0.12710	0.000000	0.06391	0.000000	0.08366	0.283000	0.24091	0.2838:0.3581:0.3581:0.0	3.887	0.08606	917	0.20147	.;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	.	.	.	.	.	.	.	.	0.07143	1395.49	34	chr1	201216520	.	G	C	1395.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.357;DP=282;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.387;SOR=0.663	GT:AD:DP:GQ:PL	0/1:47,58:105:99:1406,0,1037	6	0	1	0
chr1	203765382	203765382	A	G	exonic	LAX1	.	nonsynonymous SNV	LAX1:NM_001136190:exon1:c.A40G:p.R14G	.	.	.	.	.	.	.	.	0.0002	0.16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00562705068173	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751028544	0.0001	0.0001	0.0001	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	3.165e-05	0.0003	0	0	0	0.0002	0.0002	0.0001	2.524e-05	7.227e-05	7.223e-05	3.854e-05	0.0001	0.0002	3.971e-05	3.127e-05	6.803e-05	5.087e-05	0	0	0	0	0	0	0	0.0001	0.0005	0.0002	0.005	0.63226	D	0.207	0.26969	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-1.17	0.29933	N	0.238	0.26837	-0.8682	0.50664	T	0.179	0.52443	T	8	0.14333978	0.27216	T	0.005627	0.14560	T	0.083	0.24192	.	.	0.61513531927	0.61202	.	.	.	.	.	.	.	.	.	.	-0.204328	0.20184	T	-0.235087	0.51278	T	0.401154667139053	0.28985	T	0.317868	0.06361	T	.	.	.	.	.	.	.	.	-2.722	0.07489	T	.	.	0.123	0.25753	B	.	.	2.546502	0.32951	19.20	0.99735085337332496	0.83047	0.62245	0.31723	D	ALL	0.234495	0.35725	N	0.180277857048358	0.50254	3.217096	0.122648378074755	0.45709	2.829351	0.999992812382726	0.74766	0.446893	0.09132	0	0.52208	0.09955	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.78	2.39	0.28492	2.134000	0.41725	3.669000	0.39431	0.756000	0.94297	0.988000	0.36536	1.000000	0.68203	0.855000	0.40485	0.6319:0.1952:0.0:0.1729	5.194	0.14552	537	0.73184	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1489.44	33	chr1	203765382	.	A	G	1489.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.519;DP=324;ExcessHet=0;FS=0.61;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-1.487;SOR=0.614	GT:AD:DP:GQ:PL	0/1:81,67:148:99:1500,0,2118	6	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	776.49	69	chr1	204444146	.	C	T	776.49	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.669;DP=644;ExcessHet=2.5225;FS=250.412;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=1.17;SOR=9.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,48:141:99:.:.:409,0,1732:.	3	0	4	0
chr1	204954892	204954892	C	T	exonic	NFASC	.	nonsynonymous SNV	NFASC:NM_001160331:exon4:c.C458T:p.T153M,NFASC:NM_001160332:exon6:c.C458T:p.T153M,NFASC:NM_001160333:exon6:c.C458T:p.T153M,NFASC:NM_001365986:exon6:c.C458T:p.T153M,NFASC:NM_001378330:exon6:c.C458T:p.T153M,NFASC:NM_001378331:exon6:c.C458T:p.T153M,NFASC:NM_015090:exon6:c.C458T:p.T153M,NFASC:NM_001005388:exon7:c.C476T:p.T159M,NFASC:NM_001005389:exon7:c.C476T:p.T159M,NFASC:NM_001378329:exon7:c.C476T:p.T159M	.	429	1073	20	0	0	20	0.00923361	.	.	.	718558	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.080	.	0.0052	0.0061901	0.0094	0.0020	0.0029	0.0052	0.0520	0.0079	0.0166	0.0094	0.0087838	1358	154602	rs3795564	0.0085	0.0085	0.0085	0.0085	0.0185	0.0084	0.0083	0.0174	0.0169	0.0013	0.0027	0.0035	0.0185	0.0470	0.0066	0.0070	0.0064	0.0093	0.0091	0.0091	0.0070	0.0112	0.0104	0.0087	0.0085	0.0081	0.0073	0.0015	0	0.0035	0.0020	0.0100	0.0560	0.0068	0.0081	0.0071	0.0104	0.005	0.72154	D	0.002	0.79402	D	0.995	0.67487	D	0.56	0.49558	P	0.001966	0.37549	N	0.118237	0.837036	0.35007	D	1.15	0.29295	L	2.28	0.17271	T	-0.21	0.16799	N	0.425	0.46462	-1.0784	0.07661	T	0.029	0.12541	T	10	0.005971402	0.00134	T	.	.	.	0.080	0.23350	.	.	.	.	0.1970622500058045	0.19623	1.14478949155	0.79045	0.51631295681	0.41107	T	0.124911	0.45026	T	-0.454693	0.01060	T	-0.416516	0.31475	T	0.0286638671957557	0.01786	T	0.983802	0.94506	D	.	.	.	.	.	.	.	.	-6.5	0.50286	T	.	.	0.129	0.32637	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.356233	0.66946	25.0	0.99652597649873598	0.77380	0.77915	0.38368	D	AEFDBI	0.198435	0.32530	N	0.414129874066812	0.62197	4.431956	0.476585348639162	0.66441	4.952566	0.769489727668072	0.23647	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	3.281000	0.51389	4.870000	0.45558	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.792000	0.37394	0.0:0.6829:0.1622:0.1549	6.124	0.19387	735	0.53711	.;.;.;.;.;.;.;.;Immunoglobulin|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	0	0	1	0	0.008056	0.000000	0.001359	0.002924	0.000000	0.000000	0.018293	0.022727	0.07143	2386.44	34	chr1	204954892	.	C	T	2386.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.265;DP=401;ExcessHet=0;FS=1.063;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.468;SOR=0.793	GT:AD:DP:GQ:PL	0/1:106,105:211:99:2397,0,2374	6	0	1	0
chr1	204975313	204975313	G	A	exonic	NFASC	.	nonsynonymous SNV	NFASC:NM_001160331:exon13:c.G1634A:p.R545K,NFASC:NM_001160333:exon14:c.G1583A:p.R528K,NFASC:NM_001005388:exon15:c.G1601A:p.R534K,NFASC:NM_001005389:exon15:c.G1601A:p.R534K,NFASC:NM_001160332:exon15:c.G1634A:p.R545K,NFASC:NM_001365986:exon15:c.G1634A:p.R545K,NFASC:NM_001378329:exon15:c.G1601A:p.R534K,NFASC:NM_001378330:exon15:c.G1634A:p.R545K,NFASC:NM_001378331:exon15:c.G1634A:p.R545K,NFASC:NM_015090:exon15:c.G1634A:p.R545K	.	420	1089	13	0	0	13	0.00593336	.	.	.	732031	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0037	0.00499201	0.0063	0.0026	0.0026	0.0052	0.0224	0.0053	0.0077	0.0092	0.0059443	919	154602	rs56223230	0.0060	0.0060	0.0059	0.0060	0.0118	0.0059	0.0058	0.0110	0.0106	0.0021	0.0026	0.0035	0.0118	0.0195	0.0059	0.0053	0.0050	0.0092	0.0058	0.0058	0.0048	0.0068	0.0101	0.0055	0.0053	0.0079	0.0071	0.0024	0	0.0031	0.0020	0.0052	0.0221	0.0068	0.0059	0.0047	0.0101	0.755	0.03533	T	1.0	0.01155	T	0.006	0.13644	B	0.0	0.04355	B	0.000043	0.53742	N	0.000000	1	0.08975	N	0.21	0.09513	N	-0.18	0.65747	T	0.5	0.03463	N	0.231	0.28498	-1.0004	0.29803	T	0.074	0.29739	T	10	0.006029129	0.00135	T	.	.	.	0.091	0.26358	.	.	0.266724437049	0.26276	0.4416807569596123	0.44085	0.378818406335	0.39287	0.390015304089	0.23671	T	0.083866	0.37150	T	-0.481388	0.00726	T	-0.45715	0.26910	T	0.000503399159067145	0.00004	T	0.385761	0.12522	T	.	.	.	.	.	.	.	.	-4.378	0.33477	T	.	.	0.154	0.38444	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.715800	0.21849	15.37	0.52303273639677472	0.04722	0.02644	0.07246	N	AEFDBCI	0.057449	0.10701	N	-1.07946312828494	0.07022	0.3250049	-0.976300699778254	0.10319	0.5189583	0.990424165957788	0.32149	0.615465	0.37627	0	0.615948	0.52940	0	0.658983	0.55881	0	0.584449	0.35598	0	.	.	5.23	4.06	0.46572	1.306000	0.33110	5.295000	0.48219	-0.040000	0.17491	0.003000	0.16062	1.000000	0.68203	0.972000	0.54974	0.7647:0.1551:0.0802:0.0	6.560	0.21676	809	0.43032	.;.;.;.;.;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.002717	0.002941	0.000000	0.000000	0.015244	0.022727	0.07143	2308.53	34	chr1	204975313	.	G	A	2308.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.599;DP=299;ExcessHet=0;FS=2.308;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.47;ReadPosRankSum=-0.418;SOR=0.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,61:125:99:0|1:204975313_G_A:2319,0,2501:204975313	6	0	1	0
chr1	204975408	204975408	A	G	exonic	NFASC	.	nonsynonymous SNV	NFASC:NM_001160331:exon13:c.A1729G:p.I577V,NFASC:NM_001160333:exon14:c.A1678G:p.I560V,NFASC:NM_001005388:exon15:c.A1696G:p.I566V,NFASC:NM_001005389:exon15:c.A1696G:p.I566V,NFASC:NM_001160332:exon15:c.A1729G:p.I577V,NFASC:NM_001365986:exon15:c.A1729G:p.I577V,NFASC:NM_001378329:exon15:c.A1696G:p.I566V,NFASC:NM_001378330:exon15:c.A1729G:p.I577V,NFASC:NM_001378331:exon15:c.A1729G:p.I577V,NFASC:NM_015090:exon15:c.A1729G:p.I577V	.	424	1084	14	0	0	14	0.00641613	.	.	.	732033	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0035	0.00459265	0.0062	0.0016	0.0026	0.0052	0.0224	0.0053	0.0078	0.0093	0.0058667	907	154602	rs55778126	0.0060	0.0060	0.0059	0.0060	0.0119	0.0059	0.0058	0.0110	0.0106	0.0008	0.0025	0.0035	0.0119	0.0195	0.0059	0.0053	0.0049	0.0092	0.0055	0.0055	0.0044	0.0065	0.0104	0.0051	0.0050	0.0081	0.0073	0.0012	0	0.0031	0.0020	0.0054	0.0221	0.0068	0.0059	0.0047	0.0104	0.93	0.05899	T	1.0	0.03241	T	0.104	0.25941	B	0.005	0.16862	B	0.000045	0.53742	D	0.000000	0.962784	0.38310	D	0.13	0.08652	N	-0.2	0.66113	T	-0.38	0.13418	N	0.167	0.18103	-1.0717	0.09043	T	0.077	0.30920	T	10	0.0043955445	0.00089	T	.	.	.	0.039	0.10176	.	.	0.352477664867	0.34857	0.25001421859308337	0.24915	0.333250129278	0.35360	0.276788443327	0.07049	T	0.098893	0.40316	T	-0.49733	0.00592	T	-0.480049	0.24441	T	0.00531163066625595	0.00057	T	0.788221	0.42759	T	.	.	.	.	.	.	.	.	-7.379	0.56757	T	.	.	0.137	0.29779	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.570244	0.20101	14.59	0.80909493949894218	0.13427	0.38379	0.25975	N	AEFDBCI	0.233864	0.35671	N	-0.619661391400152	0.18355	0.9522322	-0.48486628567447	0.22569	1.226516	0.999334318026092	0.39185	0.615465	0.37627	0	0.615948	0.52940	0	0.658983	0.55881	0	0.584449	0.35598	0	.	.	5.38	2.98	0.33575	0.065000	0.14336	1.888000	0.29498	0.756000	0.94297	0.006000	0.17386	0.980000	0.30356	0.960000	0.51673	0.7058:0.0:0.1559:0.1383	4.747	0.12418	809	0.43032	.;.;.;.;.;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.002717	0.002924	0.000000	0.000000	0.015244	0.022727	0.07143	1570.49	34	chr1	204975408	.	A	G	1570.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.05;DP=307;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.943;SOR=0.646	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1581,0,1619	6	0	1	0
chr1	205842737	205842737	G	T	exonic	PM20D1	.	nonsynonymous SNV	PM20D1:NM_152491:exon7:c.C842A:p.P281Q	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	.	0.0040	0.00559105	0.0053	0.0013	0.0129	0	0.0112	0.0059	0.0011	0.0008	0.0053233	823	154602	rs141605758	0.0056	0.0056	0.0058	0.0054	0.0123	0.0055	0.0055	0.0114	0.0111	0.0008	0.0123	0.0007	2.519e-05	0.0132	0.0014	0.0058	0.0050	0.0011	0.0050	0.0050	0.0049	0.0051	0.0101	0.0047	0.0046	0.0088	0.0083	0.0013	0.0033	0.0101	0.0009	0	0.0123	0.0034	0.0059	0.0066	0.0002	0.087	0.32453	T	0.231	0.25061	T	0.927	0.51527	P	0.781	0.57337	P	0.000193	0.48115	N	0.249791	0.999896	0.50595	D	2.215	0.62545	M	0.45	0.56446	T	-5.07	0.82830	D	0.293	0.33140	-0.7329	0.58817	T	0.174	0.51690	T	10	0.007482469	0.00170	T	.	.	.	0.288	0.60691	.	.	0.290590437066	0.28656	0.8010242509844844	0.80056	0.476760068928	0.46798	0.408552825451	0.26256	T	0.077016	0.35556	T	-0.409847	0.01992	T	-0.351105	0.39079	T	0.0395951088728952	0.03617	T	0.666933	0.27600	T	0.21398528	0.43792	0.32533416	0.58450	0.21398528	0.43792	0.32533416	0.58449	-5.374	0.40669	T	.	.	0.139	0.30450	B	.	.	3.898114	0.56761	23.8	0.98493352775274601	0.42120	0.95350	0.64378	D	AEFBI	0.467229	0.51455	N	0.288292868158417	0.55555	3.719494	0.281176072289247	0.54440	3.609071	0.99265222118269	0.32919	0.497415	0.19182	0	0.59043	0.45803	0	0.55458	0.18720	0	0.530356	0.10902	0	.	.	5.84	4.94	0.64645	4.467000	0.59889	6.671000	0.56279	-0.693000	0.04107	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0704:0.0:0.7868:0.1428	9.622	0.38891	778	0.48011	Peptidase M20, dimerisation 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	0.010101	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1166.45	39	chr1	205842737	.	G	T	1166.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.48;DP=324;ExcessHet=0;FS=0.689;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-1.445;SOR=0.582	GT:AD:DP:GQ:PL	0/1:72,50:122:99:1177,0,1734	6	0	1	0
chr1	207582003	207582003	C	T	exonic	CR1	.	nonsynonymous SNV	CR1:NM_000573:exon24:c.C3952T:p.H1318Y,CR1:NM_001381851:exon24:c.C3952T:p.H1318Y,CR1:NM_000651:exon32:c.C5302T:p.H1768Y	CR1 deficiency (1)	427	1093	2	0	0	2	0.000914077	0.0139	0.1	.	3209540	CR1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.141	.	8.2e-05	0.00419329	0.0020	0	0	0	0	3.001e-05	0.0022	0.0142	0.001727	267	154602	rs201880876	0.0009	0.0009	0.0005	0.0013	0.0142	0.0009	0.0009	0.0135	0.0132	6.024e-05	0	0	5.062e-05	0	0.0005	5.256e-05	0.0008	0.0142	0.0005	0.0005	0.0003	0.0007	0.0145	0.0004	0.0004	0.0118	0.0108	2.408e-05	0	0	0	0	0	0.0034	4.411e-05	0	0.0145	0.335	0.46129	T	0.087	0.42261	T	0.998	0.73220	D	0.467	0.46683	P	.	.	.	.	0.999887	0.19853	N	.	.	.	1.91	0.23283	T	-1.05	0.27463	N	0.217	0.35727	-1.1008	0.03996	T	0.028	0.11882	T	9	0.0066961944	0.00152	T	0.005847	0.15221	T	0.141	0.37795	.	.	0.310147130316	0.30628	0.2519600382206799	0.25110	0.182580710226	0.20522	0.317342579365	0.13017	T	.	.	.	-0.602602	0.00141	T	-0.627342	0.10617	T	0.116647149616809	0.14099	T	0.145785	0.02268	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.16756	B	.;.;.;.;.	.;.;.;.;.	2.788315	0.36647	20.3	0.99300620523286132	0.58613	0.55769	0.29947	D	AEFDBI	0.249375	0.36962	N	-0.403262098807412	0.25355	1.375745	-0.323818172512877	0.27332	1.515849	0.00113602278991335	0.08261	0.638212	0.43195	0	0.670034	0.63936	0	0.315538	0.05692	2	0.530356	0.10902	0	.	.	3.96	1.88	0.24630	0.348000	0.19784	0.916000	0.22667	-0.223000	0.07921	0.993000	0.37899	0.992000	0.31684	0.982000	0.59238	0.4289:0.5711:0.0:0.0	8.349	0.31454	768	0.49510	.;.;.;Sushi/SCR/CCP domain;Sushi/SCR/CCP 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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1178.27	33	chr1	207582003	.	C	T	1178.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.383;SOR=0.793	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1188,0,1080	5	0	1	1
chr1	229659277	229659277	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon10:c.G4555A:p.E1519K,URB2:NM_014777:exon10:c.G4555A:p.E1519K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.022527275655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.018	0.59732	D	0.999	0.77913	D	0.941	0.67658	D	0.000000	0.84330	D	0.046950	1	0.81001	D	2.515	0.73286	M	0.82	0.48142	T	-1.39	0.34397	N	0.705	0.70878	-0.6557	0.62465	T	0.275	0.64629	T	9	0.79105794	0.78664	D	0.022527	0.45427	T	0.180	0.45073	0.49	0.57573	0.689874887879	0.68721	0.6846074097033958	0.68399	0.48230503497	0.47191	0.541827440262	0.44704	T	0.183971	0.53648	T	0.0705571	0.60917	D	-0.136426	0.60426	T	0.959611833095551	0.65581	D	0.880112	0.59716	D	0.37535313	0.58978	0.29575565	0.55608	0.37535313	0.58978	0.29575565	0.55607	-2.602	0.06519	T	.	.	0.226	0.45738	B	.	.	4.907384	0.80710	27.4	0.99937201472321724	0.99661	0.99036	0.90290	D	AEFBI	0.846801	0.76367	D	0.737485343192617	0.82090	7.676984	0.72995708383648	0.84651	8.352356	0.999999824107318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.5	5.5	0.81386	8.703000	0.91063	11.315000	0.92518	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.015	0.92868	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	43.2	36	chr1	229659277	.	G	A	43.2	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.767;DP=456;ExcessHet=0;FS=325.349;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=1.57;SOR=8.553	GT:AD:DP:GQ:PL	0/1:76,37:113:51:51,0,1263	3	0	1	3
chr1	237004246	237004246	T	C	exonic	MT1HL1	.	nonsynonymous SNV	MT1HL1:NM_001276687:exon1:c.A127G:p.K43E	.	421	1096	4	1	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00100743418223	.	.	0.0004	0	0.0002	0	0	0	0.0022	0.0025	.	.	.	.	0.0002	0.0002	3.812e-05	0.0003	0.0027	0.0001	0.0001	0.0024	0.0023	0	0	0	0	0	0	0	9.935e-05	0.0027	0.0002	0.0002	2.57e-05	0.0004	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	0	0	0.0060	.	.	.	0.131	0.34596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.35194	.	.	.	.	.	.	.	0.01706788	0.00362	T	0.001007	0.01096	T	.	.	.	.	0.15556083564	0.15200	0.19799587105827893	0.19716	0.0884479184041	0.10002	.	.	.	0.190548	0.54512	T	-0.218748	0.18165	T	-0.0934684	0.63899	T	.	.	.	0.989034	0.96338	D	0.061926417	0.12878	0.123599574	0.29802	0.061926417	0.12878	0.123599574	0.29801	-11.45	0.82068	D	.	.	0.147	0.32372	B	.	.	1.550904	0.19880	14.48	0.77468709325696861	0.11889	0.20621	0.21108	N	AEFBI	0.068726	0.13571	N	.	.	.	.	.	.	0.0217894540342477	0.13378	0.262962	0.04601	0	0.084543	0.02171	0	0.292756	0.05521	0	0.223356	0.04673	0	.	.	0.991	0.991	0.18931	1.910000	0.39557	0.168000	0.15485	0.365000	0.20147	0.903000	0.31499	0.016000	0.20520	0.573000	0.30723	0.0:0.0:0.0:1.0	4.242	0.10102	621	0.65931	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1848.46	37	chr1	237004246	.	T	C	1848.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.693;DP=355;ExcessHet=0;FS=6.873;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.643;SOR=0.906	GT:AD:DP:GQ:PL	0/1:80,79:159:99:1859,0,1950	6	0	1	0
chr1	240207634	240207634	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1	144	3	1	77	82	0.0170648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1165.21	38	chr1	240207634	.	G	*	1165.21	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.879;DP=338;ExcessHet=0.0921;FS=0.626;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=-0.592;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,74:74:99:.:.:3279,229,0:.	6	1	0	0
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1287.21	38	chr1	240207641	.	T	*	1287.21	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.081;DP=346;ExcessHet=0.0921;FS=0.619;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=-2.405;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,74:74:99:.:.:3279,229,0:.	6	1	0	0
chr1	240208225	240208225	C	T	exonic	FMN2	.	nonsynonymous SNV	FMN2:NM_020066:exon5:c.C3413T:p.A1138V,FMN2:NM_001305424:exon6:c.C3425T:p.A1142V	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	215203	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	0.0593264705397	.	.	4.303e-05	0	0	0	0	3.904e-05	0	0.0002	3.84e-05	1	26028	rs199570117	0.0002	0.0003	8.288e-05	0.0003	0.0019	0.0002	0.0002	0.0017	0.0015	0	6.742e-05	8.973e-05	8.975e-05	0	0.0006	3.489e-05	0.0001	0.0019	0.0002	0.0001	0.0003	0	0.0003	0	0	.	.	0	0	0	0	0	0	0	0.0003	0	0	0.125	0.27310	T	0.364	0.16766	T	0.001	0.07471	B	0.001	0.04355	B	0.949794	0.08295	N	0.965537	1	0.08975	N	-0.265	0.03777	N	0.3	0.58755	T	0.98	0.01447	N	0.072	0.04547	-1.0481	0.14932	T	0.074	0.29739	T	9	0.039099485	0.02376	T	0.059326	0.67625	D	0.026	0.05648	.	.	0.45318261447	0.44940	0.031559809544390006	0.03104	0.0908426113057	0.10259	0.480732858181	0.36158	T	0.039202	0.25109	T	-0.489698	0.00652	T	-0.676765	0.07183	T	0.027322051155838	0.01590	T	0.563244	0.19836	T	0.01999625	0.00544	0.03595056	0.02945	0.01999625	0.00544	0.03595056	0.02944	-5.064	0.37526	T	.	.	0.078	0.06896	B	.	.	-1.087624	0.00655	0.018	0.4854602836483915	0.04060	0.00082	0.00556	N	AEFI	0.024825	0.01600	N	-1.81045544107508	0.00520	0.0223836	-1.88724632416224	0.00519	0.02299746	0.0279158718562539	0.13801	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.21	-4.88	0.02884	-2.667000	0.00919	-20.000000	0.00162	-4.313000	0.00033	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1539:0.3443:0.0:0.5019	4.261	0.10189	976	0.04745	Formin Homology 1|Formin, FH2 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	0.010106	0.000000	0.009511	0.020161	0.000000	0.025862	0.003145	0.015152	0.1429	667.03	15	chr1	240208225	.	C	T	667.03	.	AC=2;AF=0.143;AN=14;DP=99;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=50.2;QD=29.71;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:52:1|1:240208184_A_T:687,52,0:240208184	6	1	0	0
chr1	240208284	240208316	CCCGGAGCGGGCATACCCCCACCTCCCCCTCTA	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.3472_3504del:p.A1171_G1181del,FMN2:NM_001305424:exon6:c.3484_3516del:p.A1175_G1185del	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.691e-05	0	0.0001	0	0	3.284e-05	0	0	3.84e-05	1	26028	rs750640213	1.629e-05	1.231e-05	0	2.922e-05	0.0001	4.33e-06	2.2e-06	1.983e-05	8.04e-06	0	0.0001	0	0	0	0	9.494e-06	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	372.15	12	chr1	240208283	.	TCCCGGAGCGGGCATACCCCCACCTCCCCCTCTA	T	372.15	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.178;DP=110;ExcessHet=0;FS=2.645;MLEAC=1;MLEAF=0.1;MQ=54.27;MQRankSum=-2.159;QD=17.72;ReadPosRankSum=-1.645;SOR=0.12	GT:AD:DP:GQ:PL	0/1:17,4:21:99:381,0,462	4	0	1	2
chr1	243330650	243330650	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G885A:p.M295I,SDCCAG8:NM_006642:exon10:c.G1179A:p.M393I,SDCCAG8:NM_001350247:exon11:c.G276A:p.M92I,SDCCAG8:NM_001350248:exon11:c.G1275A:p.M425I,SDCCAG8:NM_001350246:exon12:c.G276A:p.M92I,SDCCAG8:NM_001350251:exon13:c.G276A:p.M92I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00632597119373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01950	T	0.234	0.24840	T	0.0	0.02946	B	0.002	0.06944	B	0.014502	0.28512	N	0.453510	0.998133	0.22332	N	1.655	0.42436	L	0.94	0.43672	T	-0.36	0.13805	N	0.134	0.13055	-1.0378	0.17985	T	0.059	0.24871	T	10	0.06551871	0.08850	T	0.006326	0.16610	T	0.032	0.07718	0.2	0.11384	0.277730125212	0.27379	0.06689497572896488	0.06627	0.0422791242989	0.04555	0.43775510788	0.30270	T	0.015516	0.13294	T	-0.198068	0.21084	T	-0.522287	0.20064	T	0.111812710762024	0.13609	T	0.748825	0.36981	T	0.06465344	0.13740	0.049524207	0.07586	0.06465344	0.13740	0.049524207	0.07585	-4.367	0.29106	T	0.08085815892315676	0.04119	0.334	0.55487	B	.;.	.;.	1.361264	0.17704	13.32	0.69353412739573272	0.08945	0.80020	0.39772	D	AEFBI	0.121707	0.23650	N	-0.389817834839874	0.25830	1.405158	-0.219855073360214	0.30825	1.738947	0.037651775745868	0.14308	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	3.84	0.43422	1.754000	0.37998	4.467000	0.43481	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.093:0.0:0.7284:0.1787	6.558	0.21666	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	250.68	121	chr1	243330650	.	G	A	250.68	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.534;DP=639;ExcessHet=0.4139;FS=98.568;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=1.43;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,28:179:2:.:.:2,0,3014:.	4	0	2	1
chr1	247921313	247921315	TCT	-	exonic	OR2T8	.	nonframeshift deletion	OR2T8:NM_001005522:exon1:c.296_298del:p.F101del	.	690	821	8	3	0	14	0.00845411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0038	0	0.0019	0	0	0.0011	0.0192	0.0267	6.5e-06	1	154602	rs374461351	0.0026	0.0019	0.0016	0.0036	0.0239	0.0025	0.0025	0.0229	0.0224	0	0.0006	0.0003	9.208e-05	0	0.0094	0.0009	0.0022	0.0239	0.0009	0.0011	0.0005	0.0013	0.0178	0.0007	0.0007	0.0132	0.0116	9.807e-05	0	0.0004	0.0004	0	0	0	0.0008	0.0019	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005240	0.000000	0.000000	0.020619	0.000000	0.011364	0.004808	0.010753	0.07143	172.8	18	chr1	247921312	.	ATCT	A	172.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.983;DP=96;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=32.46;MQRankSum=1.1;QD=12.34;ReadPosRankSum=0.129;SOR=0.307	GT:AD:DP:GQ:PL	0/1:9,5:14:99:183,0,335	6	0	1	0
chr1	248361672	248361672	A	0	exonic	OR2T4	.	.	.	.	444	759	27	2	290	321	0.0200129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3151.83	37	chr1	248361672	.	A	*	3151.83	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.75;DP=877;ExcessHet=1.1394;FS=3.503;MLEAC=2;MLEAF=0.143;MQ=59.98;MQRankSum=-1.093;QD=4.52;ReadPosRankSum=-2.376;SOR=0.49	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,45:217:99:0|1:248361635_ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT_A:1388,0,7018:248361635	5	0	2	0
chr1	248441325	248441325	T	C	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.T209C:p.I70T	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00368065330321	.	.	0.0002	0	0	0	0	1.511e-05	0	0.0013	.	.	.	rs751406445	8.212e-05	0.0001	7.081e-05	9.353e-05	0.0009	7.004e-05	6.554e-05	0.0006	0.0005	0	0	0	2.519e-05	0	0.0009	3.868e-05	0.0002	0.0007	6.071e-05	9.197e-05	5.274e-05	6.904e-05	0.0009	3.151e-05	2.363e-05	0.0003	0.0002	0	0	0	0	0	0	0.0034	5.893e-05	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	112.45	24	chr1	248441325	.	T	C	112.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.84;DP=203;ExcessHet=0;FS=3.847;MLEAC=1;MLEAF=0.071;MQ=35.05;MQRankSum=0.569;QD=2.81;ReadPosRankSum=-0.697;SOR=1.588	GT:AD:DP:GQ:PL	0/1:33,7:40:99:123,0,1353	6	0	1	0
chr1	248650739	248650739	A	G	exonic	OR2T27	.	nonsynonymous SNV	OR2T27:NM_001001824:exon1:c.T146C:p.I49T	.	428	1093	1	0	0	1	0.000457247	.	.	.	4005048	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.00378235673908	.	.	0.0002	0	0	0	0	1.562e-05	0	0.0014	3.84e-05	1	26028	rs766043533	8.402e-05	0.0001	7.015e-05	9.778e-05	0.0013	7.1e-05	6.669e-05	0.0006	0.0006	0	0	0	2.565e-05	0	0.0013	3.081e-05	0.0001	0.0008	3.453e-05	9.224e-05	0	7.127e-05	0.0009	1.31e-05	8.33e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.54e-05	0	0.0009	0.0	0.91255	D	0.005	0.72224	D	0.987	0.61912	D	0.959	0.70163	D	0.001163	0.39978	N	0.000000	1	0.08975	N	.	.	.	3.09	0.08371	T	-4.17	0.75456	D	0.282	0.31925	-1.1323	0.01675	T	0.050	0.21378	T	10	0.08064121	0.13113	T	0.003782	0.08806	T	0.135	0.36572	.	.	0.641406357711	0.63844	0.1292369307305674	0.12848	0.743471328655	0.63393	0.42296949029	0.28245	T	0.016739	0.13781	T	-0.435037	0.01383	T	-0.456869	0.26940	T	0.159821969351869	0.17859	T	0.740726	0.35986	T	0.54074347	0.69438	0.3593371	0.61394	0.54074347	0.69439	0.3593371	0.61393	-7.123	0.54926	T	.	.	0.293	0.53595	B	.;.;.	.;.;.	2.605995	0.33832	19.46	0.99217967900695858	0.55808	0.30198	0.24020	N	AEFGI	0.100407	0.20190	N	-0.0303060833558864	0.40488	2.405175	-0.250828535071181	0.29742	1.668861	9.22615818320212E-4	0.08013	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.19	3.19	0.35720	1.724000	0.37685	0.086000	0.14453	0.550000	0.28109	0.001000	0.13787	0.000000	0.08366	0.064000	0.16252	0.879:0.0:0.121:0.0	6.643	0.22111	988	0.01987	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	.	.	.	.	.	.	.	.	0.07143	616.49	37	chr1	248650739	.	A	G	616.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.425;DP=304;ExcessHet=0;FS=5.073;MLEAC=1;MLEAF=0.071;MQ=41.1;MQRankSum=-1.082;QD=5.27;ReadPosRankSum=0.658;SOR=0.455	GT:AD:DP:GQ:PL	0/1:82,35:117:99:627,0,2095	6	0	1	0
chr2	1237941	1237941	G	A	exonic	SNTG2	.	nonsynonymous SNV	SNTG2:NM_018968:exon10:c.G773A:p.R258Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.00496329685721	0.0012	0.00119808	0.0003	0.0036	0.0001	0	0	4.586e-05	0	9.012e-05	0.0002717	42	154602	rs200548143	5.632e-05	5.746e-05	6.006e-05	5.253e-05	0.0013	4.628e-05	4.253e-05	0.0010	0.0009	0.0013	0.0003	0	2.528e-05	0	0	1.532e-05	6.644e-05	1.185e-05	0.0005	0.0005	0.0004	0.0005	0.0018	0.0004	0.0004	0.0014	0.0013	0.0018	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.14655	B	0.0	0.04355	B	0.000169	0.48594	N	0.183612	0.999991	0.18198	N	-2.72	0.00030	N	-0.04	0.63240	T	2.27	0.00300	N	0.227	0.30347	-0.9345	0.43470	T	0.042	0.17994	T	10	0.011838138	0.00257	T	0.004963	0.12504	T	0.113	0.31778	.	.	0.449956787536	0.44615	0.2105436933853838	0.20970	0.114153396927	0.12873	0.2449824512	0.03258	T	0.010939	0.09820	T	-0.510594	0.00498	T	-0.512376	0.21070	T	0.00759640522875817	0.00088	T	0.708829	0.31953	T	0.022053612	0.00843	0.03745547	0.03401	0.022053612	0.00843	0.03745547	0.03400	4.623	0.00100	T	.	.	0.066	0.02285	B	.;.	.;.	0.308443	0.06837	3.365	0.34504802085319375	0.02114	0.06791	0.12815	N	AEFDBI	0.034566	0.04306	N	-1.52777885860616	0.01669	0.07301191	-1.38407437575694	0.03421	0.1595439	8.27790073132453E-4	0.07872	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.68	-1.06	0.09491	2.282000	0.43122	0.912000	0.22635	-0.688000	0.04154	1.000000	0.71638	0.906000	0.28050	0.022000	0.11911	0.7574:0.0:0.2426:0.0	9.642	0.39011	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1236.44	33	chr2	1237941	.	G	A	1236.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.083;DP=295;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.924;SOR=0.726	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1247,0,1204	6	0	1	0
chr2	3387687	3387687	G	A	exonic	TRAPPC12	.	nonsynonymous SNV	TRAPPC12:NM_001321102:exon2:c.G64A:p.A22T,TRAPPC12:NM_016030:exon2:c.G64A:p.A22T	.	423	1069	30	0	0	30	0.0138376	.	.	.	1663862	Inborn_genetic_diseases|TRAPPC12-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0021	0.00139776	0.0050	0.0004	0.0080	0	0.0275	0.0050	0.0102	0.0051	0.0019081	295	154602	rs200941005	0.0025	0.0025	0.0025	0.0026	0.0053	0.0024	0.0024	0.0043	0.0042	0.0009	0.0025	0.0004	2.758e-05	0.0056	0.0053	0.0024	0.0029	0.0047	0.0022	0.0022	0.0020	0.0024	0.0038	0.0020	0.0020	0.0030	0.0027	0.0004	0	0.0038	0.0003	0	0.0063	0	0.0026	0.0019	0.0037	0.4	0.10482	T	0.444	0.13177	T	0.429	0.35556	B	0.019	0.18783	B	0.107730	0.02608	N	1.827870	1	0.08975	N	0.77	0.19370	N	-0.3	0.67874	T	-0.2	0.10136	N	0.032	0.00825	-0.9649	0.38230	T	0.117	0.41187	T	10	0.0035474598	0.00064	T	.	.	.	0.071	0.20720	.	.	0.455722563999	0.45195	0.06708059550249582	0.06646	0.237743367185	0.26321	0.416596293449	0.27369	T	0.003064	0.02464	T	-0.581985	0.00187	T	-0.608217	0.12129	T	0.00150097774500844	0.00015	T	0.353565	0.07967	T	0.02512607	0.01415	0.037013467	0.03266	0.02292016	0.00989	0.036016054	0.02965	-4.169	0.26301	T	0.09427473967491526	0.06291	0.071	0.04002	B	.;.	.;.	0.782339	0.11523	8.123	0.79857654814798007	0.12933	0.02393	0.06788	N	AEFDBI	0.040266	0.05965	N	-0.751456294368612	0.14593	0.7282783	-0.822862250216735	0.13942	0.7259425	0.975804504763812	0.29666	0.643511	0.44296	0	0.643519	0.57511	0	0.570548	0.19454	0	0.631631	0.49550	0	.	.	4.34	2.46	0.29032	0.626000	0.24185	2.228000	0.31507	0.654000	0.53741	0.001000	0.13787	0.038000	0.21505	0.001000	0.02609	0.1029:0.0:0.7068:0.1903	5.734	0.17324	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007622	0.000000	0.010929	0.000000	0.000000	0.000000	0.015337	0.007576	0.07143	2673.45	35	chr2	3387687	.	G	A	2673.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.134;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.56;ReadPosRankSum=-0.687;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,68:124:99:0|1:3387687_G_A:2684,0,2101:3387687	6	0	1	0
chr2	3387691	3387691	C	T	exonic	TRAPPC12	.	nonsynonymous SNV	TRAPPC12:NM_001321102:exon2:c.C68T:p.P23L,TRAPPC12:NM_016030:exon2:c.C68T:p.P23L	.	.	.	.	.	.	.	.	.	.	.	3621208	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.0496676964987	0.0002	0.000399361	0.0002	0.0008	0.0024	0	0	0	0	0	3.88e-05	6	154602	rs145121353	1.689e-05	1.642e-05	1.812e-05	1.564e-05	0.0002	1.143e-05	9.6e-06	6.044e-05	3.887e-05	0.0002	5.151e-05	0	0	0	0	7.327e-06	1.699e-05	9.86e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.085e-05	5.742e-05	0.0002	0.0002	0.0004	0	0	0	0.0004	0	0	0	0	0	0.505	0.07619	T	0.382	0.15890	T	0.437	0.35811	B	0.11	0.31460	B	0.410379	0.04587	N	1.352090	0.999999	0.08975	N	1.04	0.26193	L	0.14	0.60854	T	-0.49	0.15578	N	0.12	0.11054	-0.8551	0.51613	T	0.229	0.59459	T	10	0.017551363	0.00375	T	0.049668	0.63910	D	0.126	0.34673	.	.	0.42748209135	0.42367	0.05833586467898493	0.05774	0.250569275448	0.27630	0.451129734516	0.32098	T	0.003292	0.02698	T	-0.423404	0.01628	T	-0.542838	0.18018	T	0.0492101153985088	0.05361	T	0.433957	0.11861	T	0.034052078	0.03746	0.029961413	0.01394	0.034052078	0.03746	0.029961413	0.01394	-4.278	0.27867	T	0.1389734935019138	0.15423	0.075	0.05623	B	.;.	.;.	1.872023	0.23776	16.15	0.70267369639503419	0.09240	0.20399	0.21027	N	AEFDBI	0.098625	0.19870	N	-0.371148233660094	0.26502	1.446879	-0.449459243852199	0.23564	1.285702	0.999999974517948	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.570548	0.19454	0	0.631631	0.49550	0	.	.	4.64	4.64	0.57399	0.671000	0.24853	2.968000	0.35785	0.580000	0.29708	0.000000	0.06391	0.045000	0.21693	0.002000	0.04165	0.0:1.0:0.0:0.0	12.864	0.57314	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2731.45	35	chr2	3387691	.	C	T	2731.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.227;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.34;ReadPosRankSum=-0.472;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,70:128:99:0|1:3387687_G_A:2742,0,2148:3387687	6	0	1	0
chr2	3499063	3499063	C	T	exonic	ADI1	.	nonsynonymous SNV	ADI1:NM_001306077:exon4:c.G422A:p.R141Q,ADI1:NM_018269:exon4:c.G440A:p.R147Q	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	0.0934148432872	0.0010	0.000798722	0.0004	0.0037	0.0002	0	0	7.504e-05	0.0011	0	0.0003428	53	154602	rs148975364	0.0002	0.0002	0.0002	0.0001	0.0045	0.0001	0.0001	0.0039	0.0037	0.0045	0.0004	0	0	0	0.0007	2.339e-05	0.0005	3.478e-05	0.0011	0.0010	0.0011	0.0010	0.0034	0.0009	0.0009	0.0030	0.0028	0.0034	0	0.0005	0	0	0	0	7.349e-05	0.0014	0.0004	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.255	0.98070	H	.	.	.	-3.88	0.73477	D	0.948	0.95608	0.437	0.89642	D	0.543	0.83194	D	9	0.11062071	0.20682	T	0.093415	0.76069	D	0.868	0.96022	.	.	0.608193466112	0.60505	0.8916747431488622	0.89137	0.62795318895	0.56867	0.601370036602	0.53097	T	0.746605	0.93023	D	0.17576	0.71653	D	0.478852	0.94183	D	0.201974604022437	0.20524	T	0.953205	0.82144	D	0.88013095	0.89677	0.72204787	0.83586	0.88013095	0.89679	0.72204787	0.83587	-11.941	0.84562	D	.	.	0.963	0.88427	P	.;.	.;.	5.033107	0.83719	28.1	0.99936110015147173	0.99621	0.99542	0.97254	D	AEFBI	0.885179	0.81548	D	0.888808481060662	0.91202	10.76476	0.74645503084806	0.85894	8.71802	0.999999998649732	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.59	4.59	0.56297	7.212000	0.77445	5.517000	0.48812	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.685000	0.33688	0.0:1.0:0.0:0.0	16.504	0.84111	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1012.27	33	chr2	3499063	.	C	T	1012.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.908;DP=278;ExcessHet=0;FS=1.767;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=1.23;SOR=0.461	GT:AD:DP:GQ:PL	0/1:45,45:90:99:1022,0,1034	5	0	1	1
chr2	5693753	5693764	CAGCAGCAGCGG	-	exonic	SOX11	.	nonframeshift deletion	SOX11:NM_003108:exon1:c.1032_1043del:p.S351_S354del	Mental retardation, autosomal dominant, 27, Autosomal dominant	399	1119	3	0	1	4	0.00133869	.	.	.	363893	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0038	.	0.0004	0.0004	0.0005	0	0	8.506e-05	0.0031	0.0011	0.0002264	35	154602	rs755419138	0.0003	0.0003	0.0003	0.0004	0.0065	0.0003	0.0003	0.0048	0.0042	0.0006	0.0010	0	0.0001	4.317e-05	0.0065	0.0002	0.0004	0.0009	0.0006	0.0006	0.0005	0.0006	0.0011	0.0005	0.0004	0.0008	0.0007	0.0011	0	0.0008	0	0.0002	0	0.0102	0.0003	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1462.4	36	chr2	5693752	.	CCAGCAGCAGCGG	C	1462.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.2;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=0.352;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,38:79:99:0|1:5693752_CCAGCAGCAGCGG_C:1473,0,1566:5693752	6	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	.	.	.	.	.	.	.	.	0.3333	289.31	14	chr2	23864893	.	T	C	289.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.963;DP=233;ExcessHet=2.5225;FS=229.459;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=1.86;SOR=8.286	GT:AD:DP:GQ:PL	0/1:30,12:42:35:35,0,320	2	0	4	1
chr2	26185202	26185202	T	A	exonic	GAREM2	.	nonsynonymous SNV	GAREM2:NM_001191033:exon3:c.T1123A:p.S375T,GAREM2:NM_001168241:exon4:c.T1354A:p.S452T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.120120597439	.	.	9.756e-05	0	0	0	.	0	0	0.0001	1.94e-05	3	154602	rs758078493	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0006	0.0006	3.426e-05	0.0002	0	0	0.0005	0	0.0007	0.0007	0.0005	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	9.649e-05	0	0.0003	0	0	9.448e-05	0	0.0007	0	0.0006	0.331	0.20835	T	0.106	0.38160	T	0.455	0.36245	P	0.142	0.33681	B	0.725845	0.09896	N	0.860577	0.659481	0.35848	D	.	.	.	1.49	0.31470	T	-1.18	0.32991	N	0.086	0.07398	-1.0620	0.11263	T	0.070	0.28478	T	10	0.07042697	0.10245	T	0.120121	0.80059	D	0.032	0.07718	0.254	0.19378	0.152612264143	0.14878	0.4465560336644505	0.44573	.	.	0.897597372532	0.96170	D	0.019706	0.15652	T	-0.380089	0.03112	T	-0.436576	0.29193	T	0.0799600161620285	0.09982	T	0.539346	0.18229	T	0.16838692	0.37292	0.14882219	0.35163	0.16838692	0.37292	0.14882219	0.35162	-4.492	0.30784	T	.	.	0.104	0.28057	B	.;.	.;.	1.840421	0.23383	16.00	0.93429843868186901	0.23202	0.93220	0.57638	D	AEFDBHCI	0.281288	0.39490	N	-0.322498365809308	0.28294	1.559511	-0.2779878670959	0.28824	1.610171	0.999999982295296	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.13	2.93	0.33092	2.095000	0.41354	2.497000	0.33011	0.558000	0.28311	0.998000	0.41325	1.000000	0.68203	0.364000	0.25977	0.0:0.0:0.1866:0.8134	9.037	0.35456	693	0.58582	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	53.75	11	chr2	26185202	.	T	A	53.75	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.09;DP=52;ExcessHet=0;FS=6.455;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=2.1;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,3:9:64:0|1:26185195_T_C:64,0,153:26185195	6	0	1	0
chr2	26440481	26440481	C	T	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon8:c.C992T:p.T331I	Ciliary dyskinesia, primary, 21, Autosomal recessive	431	1069	21	1	0	23	0.0106432	.	.	.	392850	Primary_ciliary_dyskinesia_21|Primary_ciliary_dyskinesia|not_provided	MONDO:MONDO:0014123,MedGen:C3809087,OMIM:615294,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.135	.	0.0088	0.0071885	0.0056	0.0193	0.0068	0	0.0003	0.0034	0.0044	0.0100	0.0051293	793	154602	rs143181834	0.0039	0.0039	0.0037	0.0040	0.0196	0.0038	0.0037	0.0184	0.0179	0.0196	0.0039	0.0096	0	0.0007	0.0087	0.0029	0.0047	0.0104	0.0074	0.0074	0.0077	0.0071	0.0191	0.0070	0.0069	0.0180	0.0175	0.0191	0	0.0024	0.0078	0	0.0004	0.0034	0.0032	0.0052	0.0070	0.008	0.58626	D	0.092	0.39954	T	1.0	0.90584	D	0.999	0.92359	D	0.019098	0.27335	N	0.434279	0.53729	0.31441	N	3.11	0.87757	M	2.35	0.16217	T	-4.22	0.75854	D	0.272	0.30800	-0.8284	0.53403	T	0.067	0.27640	T	10	0.0047012568	0.00099	T	.	.	.	0.135	0.36572	.	.	0.345859378078	0.34197	0.2995200133479883	0.29865	0.143505027535	0.16199	0.650931835175	0.60118	T	0.04849	0.28032	T	-0.525459	0.00409	T	-0.511966	0.21112	T	0.021392734080505	0.00842	T	0.762724	0.38847	T	0.15863673	0.35679	0.21951956	0.46694	0.15863673	0.35679	0.21951956	0.46693	-9.181	0.68855	D	.	.	0.204	0.42934	B	.	.	3.625471	0.51325	23.1	0.99905336106589349	0.97651	0.81857	0.41179	D	AEFI	0.401446	0.47593	N	0.560431400868571	0.70720	5.543083	0.475017264697382	0.66338	4.939222	0.999440158746165	0.39736	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.17	4.29	0.50359	2.943000	0.48719	2.683000	0.34031	0.599000	0.40250	0.994000	0.38300	0.993000	0.31925	0.941000	0.48210	0.0:0.9204:0.0:0.0796	13.104	0.58650	418	0.81602	.	.	.	.	.	.	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	0.006042	0.015152	0.006793	0.000000	0.000000	0.008621	0.000000	0.003788	0.07143	1976.44	35	chr2	26440481	.	C	T	1976.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=416;ExcessHet=0;FS=1.104;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-1.426;SOR=0.807	GT:AD:DP:GQ:PL	0/1:106,94:200:99:1987,0,2214	6	0	1	0
chr2	27026325	27026325	C	G	exonic	MAPRE3	.	nonsynonymous SNV	MAPRE3:NM_001303050:exon7:c.C823G:p.Q275E,MAPRE3:NM_012326:exon7:c.C823G:p.Q275E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00912656706737	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198147907	9.578e-06	9.577e-06	5.446e-06	1.375e-05	1.259e-05	5.56e-06	4.35e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	0	0	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.756	0.03523	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.004792	0.33389	N	0.190877	0.965823	0.26689	N	1.355	0.33814	L	1.04	0.40218	T	-0.26	0.11185	N	0.214	0.23884	-1.0858	0.06263	T	0.051	0.21572	T	10	0.09753209	0.17572	T	0.009127	0.24012	T	0.124	0.34239	0.137	0.04097	0.293707238958	0.28979	0.13822969165579696	0.13746	0.929316821015	0.71757	0.459808140993	0.33283	T	0.022219	0.17168	T	-0.192125	0.21947	T	-0.513751	0.20931	T	0.77900493144989	0.44988	D	0.839116	0.51273	T	0.16193868	0.36236	0.14433594	0.34271	0.16193868	0.36236	0.14433594	0.34270	-2.974	0.09903	T	.	.	0.066	0.04238	B	.;.;.;.	.;.;.;.	3.131273	0.42311	21.5	0.55870083062710041	0.05432	0.99153	0.92009	D	AEFDBI	0.775287	0.70874	D	-0.336426560608129	0.27774	1.52655	-0.0825400088392692	0.36112	2.097463	0.999999999472186	0.74766	0.706298	0.61202	0	0.577304	0.33150	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.82	4.82	0.61641	6.712000	0.74502	7.615000	0.62066	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.737	0.85309	447	0.79583	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2203.44	35	chr2	27026325	.	C	G	2203.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.94;DP=415;ExcessHet=0;FS=0.51;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.063;SOR=0.764	GT:AD:DP:GQ:PL	0/1:112,95:207:99:2214,0,2573	6	0	1	0
chr2	33527173	33527173	G	A	exonic	RASGRP3	.	nonsynonymous SNV	RASGRP3:NM_015376:exon9:c.G844A:p.G282S,RASGRP3:NM_001139488:exon10:c.G844A:p.G282S,RASGRP3:NM_001349976:exon10:c.G844A:p.G282S,RASGRP3:NM_001349979:exon10:c.G844A:p.G282S,RASGRP3:NM_001349981:exon10:c.G844A:p.G282S,RASGRP3:NM_001349977:exon11:c.G844A:p.G282S,RASGRP3:NM_001349978:exon11:c.G844A:p.G282S,RASGRP3:NM_001349980:exon11:c.G844A:p.G282S,RASGRP3:NM_170672:exon11:c.G844A:p.G282S,RASGRP3:NM_001349975:exon12:c.G844A:p.G282S	.	437	1038	46	1	0	48	0.0225989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0034	0.00758786	0.0090	0.0005	0.0045	0.0002	0.0091	0.0063	0.0067	0.0328	0.0080982	1252	154602	rs142000180	0.0068	0.0068	0.0057	0.0079	0.0341	0.0067	0.0067	0.0331	0.0327	0.0010	0.0035	0.0079	7.557e-05	0.0100	0.0149	0.0051	0.0064	0.0341	0.0056	0.0056	0.0050	0.0063	0.0317	0.0053	0.0052	0.0276	0.0261	0.0010	0.0197	0.0075	0.0052	0.0006	0.0090	0.0136	0.0058	0.0071	0.0317	0.443	0.09346	T	0.499	0.11371	T	0.977	0.58535	D	0.624	0.51529	P	0.000013	0.62929	D	0.115113	0.999975	0.53665	D	0.425	0.12573	N	1.59	0.28836	T	-1.32	0.32991	N	0.441	0.50146	-1.1311	0.01730	T	0.056	0.23639	T	10	0.012260407	0.00264	T	.	.	.	0.115	0.32236	.	.	0.780878195205	0.77885	0.4263522460405728	0.42552	0.415926434887	0.42235	0.638891577721	0.58407	T	0.243467	0.61240	T	-0.428832	0.01506	T	-0.364389	0.37544	T	0.0262038062900292	0.01433	T	0.932007	0.74652	D	0.15598223	0.35224	0.1770133	0.40274	0.15598223	0.35223	0.1770133	0.40273	-6.348	0.49463	T	.	.	0.133	0.33573	B	.;.;.	.;.;.	5.768798	0.93468	33	0.99802962190873989	0.88728	0.88528	0.48498	D	AEFBCI	0.848698	0.76552	D	0.50070749462653	0.67131	5.041035	0.597081224363905	0.74730	6.186954	0.999994411967859	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.74	5.74	0.90070	7.764000	0.84130	10.029000	0.83162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.940	0.97160	760	0.50470	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	0.010574	0.005051	0.006793	0.002924	0.000000	0.000000	0.015244	0.034091	0.07143	1032.63	34	chr2	33527173	.	G	A	1032.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.393;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.307;SOR=0.627	GT:AD:DP:GQ:PL	0/1:46,44:90:99:1043,0,1093	6	0	1	0
chr2	38733519	38733519	G	A	exonic	GALM	.	nonsynonymous SNV	GALM:NM_138801:exon7:c.G983A:p.G328D	.	423	1092	6	1	0	8	0.00364964	.	.	.	1632173	not_provided|GALM-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.380	.	.	0.00199681	0.0009	0	0.0003	0	0	0.0001	0.0011	0.0063	0.0008409	130	154602	rs575045929	0.0005	0.0005	0.0003	0.0006	0.0061	0.0004	0.0004	0.0057	0.0055	0	6.708e-05	0	0	0	0.0038	8.184e-05	0.0005	0.0061	0.0003	0.0003	0.0002	0.0004	0.0062	0.0002	0.0002	0.0045	0.0039	2.406e-05	0	0	0	0	0	0.0034	7.349e-05	0.0009	0.0062	0.013	0.53900	D	0.061	0.46182	T	0.262	0.31549	B	0.179	0.35808	B	0.000797	0.41772	N	0.237881	0.999999	0.58761	D	2.33	0.66821	M	-0.46	0.70014	T	-5.75	0.88148	D	0.326	0.40465	-0.6464	0.62870	T	0.244	0.61260	T	10	0.016306251	0.00343	T	.	.	.	0.380	0.69780	0.858	0.95662	0.742616433148	0.74030	0.6697910710981158	0.66917	0.150691142447	0.16997	0.485783576965	0.36855	T	0.41264	0.76674	T	-0.300183	0.08642	T	-0.200243	0.54624	T	0.150125729852697	0.17113	T	0.872913	0.58047	D	0.6360399	0.74620	0.65386903	0.79739	0.6360399	0.74621	0.65386903	0.79740	-6.175	0.47720	T	0.2819811291314069	0.37743	0.153	0.45470	B	.;.	.;.	3.313343	0.45536	22.1	0.99573893713976513	0.72561	0.93769	0.59138	D	AEFDBI	0.692442	0.65210	D	0.0887197765973293	0.45937	2.842006	0.176924047384255	0.48586	3.072496	0.996869541140098	0.35072	0.744818	0.98587	0	0.723133	0.82719	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.17	4.26	0.49832	4.371000	0.59294	5.716000	0.49448	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.182:0.0:0.818:0.0	8.718	0.33584	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	1	0	.	.	.	.	.	.	.	.	0.07143	734.53	33	chr2	38733519	.	G	A	734.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.28;DP=243;ExcessHet=0;FS=0.919;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.74;SOR=0.538	GT:AD:DP:GQ:PL	0/1:41,29:70:99:745,0,944	6	0	1	0
chr2	47379013	47379013	G	T	exonic	EPCAM	.	nonsynonymous SNV	EPCAM:NM_002354:exon6:c.G616T:p.D206Y	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.0433981876988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.032	0.53426	D	0.802	0.45105	P	0.184	0.35999	B	0.006130	0.32251	N	0.358439	0.99833	0.44783	D	3.02	0.86243	M	-0.8	0.73845	T	-5.19	0.83625	D	0.819	0.81459	-0.3322	0.74070	T	0.305	0.67603	T	10	0.6419456	0.69107	D	0.043398	0.60961	D	0.445	0.74727	0.381	0.39807	0.610564787575	0.60743	0.5517437393365716	0.55100	0.0173401119344	0.01682	0.593596994877	0.52001	T	0.268884	0.94181	T	0.29488	0.82555	D	0.185798	0.82330	D	0.988878726959229	0.79155	D	0.941706	0.78221	D	0.6776214	0.76841	0.51874346	0.72194	0.6776214	0.76842	0.51874346	0.72194	-9.026	0.67865	D	0.4685922803224569	0.54947	0.461	0.62757	A	.;.	.;.	4.484930	0.70005	25.5	0.98991002418856	0.49943	0.97521	0.75291	D	AEFBI	0.626990	0.60961	D	0.358177753193215	0.59173	4.094523	0.420537512626681	0.62847	4.50711	0.963603125577038	0.28702	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	4.98	0.65679	4.336000	0.59087	9.785000	0.81617	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0752:0.0:0.9248:0.0	12.715	0.56477	875	0.30485	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	799.45	33	chr2	47379013	.	G	T	799.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.222;DP=257;ExcessHet=0;FS=0.852;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.624;SOR=0.563	GT:AD:DP:GQ:PL	0/1:44,36:80:99:810,0,1052	6	0	1	0
chr2	85371517	85371517	G	A	exonic	ELMOD3	.	nonsynonymous SNV	ELMOD3:NM_001329793:exon8:c.G562A:p.D188N,ELMOD3:NM_001135023:exon9:c.G562A:p.D188N,ELMOD3:NM_001329792:exon9:c.G562A:p.D188N,ELMOD3:NM_001135022:exon10:c.G562A:p.D188N,ELMOD3:NM_001329791:exon10:c.G562A:p.D188N,ELMOD3:NM_001135021:exon11:c.G562A:p.D188N	.	432	1088	2	0	0	2	0.000918274	.	.	.	697686	not_provided|ELMOD3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.153	.	0.0058	0.00599042	0.0016	0.0178	0.0008	0	0	2.997e-05	0	0	0.0015847	245	154602	rs116470781	0.0005	0.0005	0.0006	0.0005	0.0186	0.0005	0.0005	0.0174	0.0169	0.0186	0.0007	0	0	0	0.0007	1.619e-05	0.0012	8.116e-05	0.0055	0.0055	0.0055	0.0055	0.0194	0.0052	0.0051	0.0183	0.0178	0.0194	0	0.0014	0	0	0	0	5.879e-05	0.0028	0.0002	0.349	0.19782	T	0.209	0.28032	T	0.711	0.42090	P	0.408	0.44733	B	0.000003	0.62929	D	0.100372	0.99994	0.51968	D	1.495	0.37439	L	1.57	0.29342	T	-2.3	0.51157	N	0.252	0.33250	-1.1229	0.02156	T	0.030	0.12979	T	10	0.00804764	0.00183	T	.	.	.	0.153	0.40148	.	.	0.456738291233	0.45297	0.25650109191909365	0.25564	0.206603004611	0.23089	0.535953998566	0.43875	T	0.031329	0.21993	T	-0.575582	0.00205	T	-0.583304	0.14251	T	0.0477304058170931	0.05096	T	0.825517	0.48813	T	0.18435946	0.39747	0.19287662	0.42826	0.23060946	0.45819	0.21746685	0.46412	-6.836	0.53917	T	0.2485217898777793	0.33649	0.151	0.33435	B	.;.;.;.;.;.	.;.;.;.;.;.	3.794483	0.54638	23.5	0.99878159472273664	0.95491	0.97703	0.76528	D	AEFGBI	0.826918	0.74631	D	-0.13154953095231	0.36023	2.076731	0.0382719049309889	0.41508	2.494928	0.999892496125353	0.45129	0.656854	0.48797	0	0.633656	0.55848	0	0.67347	0.61138	0	0.592323	0.36904	0	.	.	6.07	5.2	0.71720	6.503000	0.73611	7.472000	0.59162	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.0766:0.0:0.9234:0.0	13.143	0.58861	890	0.26919	ELMO domain;ELMO domain|ELMO domain;ELMO domain|ELMO domain;ELMO domain|ELMO domain;.;ELMO domain|ELMO 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	0.010101	0.008152	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	1373.44	35	chr2	85371517	.	G	A	1373.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.327;DP=323;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=1.74;SOR=0.642	GT:AD:DP:GQ:PL	0/1:75,64:139:99:1384,0,1730	6	0	1	0
chr2	86111126	86111126	G	A	exonic	PTCD3	.	nonsynonymous SNV	PTCD3:NM_017952:exon4:c.G208A:p.V70I	.	429	1087	6	0	0	6	0.00275229	.	.	.	3500778	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.101	0.00587499955453	0.0034	0.00219649	0.0028	0.0013	0.0005	0	0.0006	0.0034	0.0022	0.0055	0.0029366	454	154602	rs78436829	0.0051	0.0052	0.0052	0.0051	0.0061	0.0051	0.0050	0.0058	0.0058	0.0008	0.0007	7.654e-05	2.519e-05	0.0009	0.0010	0.0060	0.0044	0.0061	0.0027	0.0027	0.0030	0.0024	0.0047	0.0025	0.0024	0.0043	0.0042	0.0009	0	0.0015	0	0	0.0005	0	0.0047	0.0019	0.0044	0.102	0.30235	T	0.076	0.42614	T	0.962	0.55554	D	0.275	0.40079	B	0.000000	0.84330	D	0.000000	0.999962	0.52935	D	1.9	0.50570	L	1.28	0.35960	T	-0.17	0.09965	N	0.415	0.45520	-1.0984	0.04290	T	0.048	0.20355	T	10	0.00821355	0.00186	T	0.005875	0.15281	T	0.101	0.28911	.	.	0.403328974453	0.39946	0.3534244555339219	0.35256	0.0823410496369	0.09290	0.369762182236	0.20798	T	0.028522	0.20643	T	-0.373738	0.03409	T	-0.303369	0.44369	T	0.012380116950473	0.00202	T	0.735226	0.40508	T	0.13081987	0.30514	0.08742542	0.20319	0.13081987	0.30514	0.08742542	0.20319	-4.697	0.33367	T	.	.	0.096	0.17016	B	.;.	.;.	4.063906	0.60331	24.2	0.99191302351945199	0.54994	0.97599	0.75810	D	AEFBI	0.483281	0.52378	N	0.354417067729647	0.58972	4.073086	0.436233333890341	0.63836	4.625673	0.999999999811829	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	5.348000	0.65773	5.133000	0.47665	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	16.801	0.85477	573	0.70213	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1200.53	37	chr2	86111126	.	G	A	1200.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.19;DP=237;ExcessHet=0;FS=2.189;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.403;SOR=1.082	GT:AD:DP:GQ:PL	0/1:27,44:71:99:1211,0,579	6	0	1	0
chr2	86489395	86489395	G	A	exonic	KDM3A	.	nonsynonymous SNV	KDM3A:NM_001146688:exon22:c.G3391A:p.V1131I,KDM3A:NM_018433:exon22:c.G3391A:p.V1131I	.	427	1070	25	0	0	25	0.0115473	.	.	.	3211294	KDM3A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.321	.	0.0018	0.00259585	0.0031	0.0004	0.0003	0	0.0003	0.0022	0.0022	0.0129	0.0028331	438	154602	rs113985244	0.0030	0.0030	0.0027	0.0034	0.0138	0.0030	0.0029	0.0131	0.0128	0.0004	0.0005	0.0013	0	0.0004	0.0035	0.0026	0.0036	0.0138	0.0015	0.0015	0.0013	0.0017	0.0098	0.0013	0.0013	0.0076	0.0068	0.0004	0	0.0006	0.0009	0	0.0003	0	0.0022	0.0005	0.0098	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000005	0.62929	D	0.000000	1	0.81001	D	2.86	0.83026	M	-0.54	0.70950	T	-0.96	0.25551	N	0.673	0.76296	-0.0146	0.81951	T	0.493	0.80757	T	10	0.012894243	0.00275	T	.	.	.	0.321	0.64318	.	.	0.629913532416	0.62689	0.8643376973833354	0.86397	1.76735228877	0.91241	0.665424466133	0.62185	T	0.149377	0.48835	T	-0.196874	0.21258	T	-0.0445416	0.67393	D	0.0536403888337325	0.06129	T	0.933407	0.75038	D	0.35067454	0.57120	0.29161683	0.55187	0.35067454	0.57120	0.29161683	0.55186	-6.479	0.50124	T	.	.	0.473	0.63348	A	.;.;.;.	.;.;.;.	4.880774	0.80049	27.2	0.99883144504492227	0.95892	0.98021	0.78937	D	AEFBCI	0.839038	0.75649	D	0.835676445387142	0.88276	9.518712	0.834963123932061	0.92106	11.24048	0.999999999999964	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.31	5.31	0.75063	9.757000	0.98114	11.846000	0.97940	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.324	0.90189	499	0.76092	JmjC domain|JmjC domain;JmjC domain|JmjC domain;JmjC domain|JmjC domain;JmjC domain|JmjC 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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	2167.44	36	chr2	86489395	.	G	A	2167.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.154;DP=340;ExcessHet=0;FS=3.784;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.023;SOR=0.574	GT:AD:DP:GQ:PL	0/1:68,87:155:99:2178,0,1666	6	0	1	0
chr2	86861844	86861844	G	-	exonic	CD8B	.	frameshift deletion	CD8B:NM_001178100:exon1:c.22delC:p.L8Sfs*6,CD8B:NM_004931:exon1:c.22delC:p.L8Sfs*6,CD8B:NM_172101:exon1:c.22delC:p.L8Sfs*6,CD8B:NM_172102:exon1:c.22delC:p.L8Sfs*6,CD8B:NM_172213:exon1:c.22delC:p.L8Sfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.61	6	chr2	86861843	.	AG	A	34.61	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=70;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.1;MQRankSum=-1.221;QD=3.46;ReadPosRankSum=0.967;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:45:0|1:86861841_A_G:45,0,268:86861841	6	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	2800.15	163	chr2	94876587	.	C	A	2800.15	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.58;DP=1332;ExcessHet=8.2628;FS=9.57;MLEAC=6;MLEAF=0.429;MQ=57.92;MQRankSum=-15.02;QD=2.14;ReadPosRankSum=-2.425;SOR=1.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,24:261:99:0|1:94876587_C_A:294,0,9810:94876587	1	0	6	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	11628.6	212	chr2	94876618	.	C	G	11628.6	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.18;DP=1811;ExcessHet=8.2628;FS=2.242;MLEAC=6;MLEAF=0.429;MQ=56.71;MQRankSum=-17.41;QD=6.52;ReadPosRankSum=-2.766;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,68:364:99:0|1:94876587_C_A:1964,0,12224:94876587	1	0	6	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.5	15709.3	250	chr2	94876632	.	C	T	15709.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.741;DP=2072;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.5;MQ=56.16;MQRankSum=-18.49;QD=7.88;ReadPosRankSum=-1.33;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,78:387:99:0|1:94876587_C_A:2345,0,12728:94876587	0	0	6	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19027.1	303	chr2	94876671	.	A	G	19027.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-6.487;DP=2361;ExcessHet=14.2834;FS=1.276;MLEAC=7;MLEAF=0.5;MQ=55.94;MQRankSum=-19.83;QD=8.13;ReadPosRankSum=3.99;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:356,89:445:99:.:.:2381,0,14565:.	0	0	7	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.5	19917.1	303	chr2	94876674	.	G	A	19917.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-6.474;DP=2389;ExcessHet=14.2834;FS=1.269;MLEAC=7;MLEAF=0.5;MQ=55.95;MQRankSum=-19.98;QD=8.45;ReadPosRankSum=4.2;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:359,91:450:99:.:.:2683,0,9772:.	0	0	7	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.5	9635.83	294	chr2	94876731	.	C	T	9635.83	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.43;DP=2227;ExcessHet=14.2834;FS=4.237;MLEAC=7;MLEAF=0.5;MQ=56.87;MQRankSum=-19.16;QD=4.43;ReadPosRankSum=-0.606;SOR=1.099	GT:AD:DP:GQ:PL	0/1:351,65:416:99:1420,0,8796	0	0	7	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	4870.11	291	chr2	94876737	.	C	A	4870.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.517;DP=1831;ExcessHet=4.7409;FS=2.809;MLEAC=5;MLEAF=0.357;MQ=56.76;MQRankSum=-15.54;QD=2.75;ReadPosRankSum=-2.853;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:366,50:416:99:0|1:94876737_C_A:992,0,15103:94876737	2	0	5	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4868.11	289	chr2	94876740	.	A	C	4868.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.23;DP=1808;ExcessHet=4.7409;FS=2.783;MLEAC=5;MLEAF=0.357;MQ=56.77;MQRankSum=-15.4;QD=2.79;ReadPosRankSum=-3.819;SOR=0.965	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:361,50:411:99:0|1:94876737_C_A:1007,0,14953:94876737	2	0	5	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	8284.69	141	chr2	95855390	.	T	C	8284.69	.	AC=6;AF=0.429;AN=14;BaseQRankSum=4.25;DP=1235;ExcessHet=8.2628;FS=29.175;MLEAC=6;MLEAF=0.429;MQ=55.71;MQRankSum=-10.91;QD=6.99;ReadPosRankSum=-6.806;SOR=2.3	GT:AD:DP:GQ:PL	0/1:137,74:211:99:1990,0,3725	1	0	6	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1192.27	163	chr2	95855406	.	C	G	1192.27	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.639;DP=1446;ExcessHet=2.5225;FS=5.666;MLEAC=4;MLEAF=0.333;MQ=53.72;MQRankSum=-5.908;QD=1.27;ReadPosRankSum=-2.7;SOR=1.302	GT:AD:DP:GQ:PL	0/1:209,33:242:99:234,0,6202	2	0	4	1
chr2	95855532	95855532	T	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5827C:p.I1943L	.	432	980	109	1	0	111	0.0535973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	.	.	.	0.0326	0.0706	0.0182	0.0090	0.0231	0.0311	0.0376	0.0445	7.68e-05	2	26028	rs112858216	6.854e-07	6.156e-06	1.364e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0	1.313e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.119	0.28026	T	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.54	0.13916	T	-0.89	0.24026	N	0.187	0.20395	-0.9674	0.37733	T	0.013	0.04843	T	7	0.0037541986	0.00070	T	.	.	.	0.005	0.00259	0.247	0.18293	.	.	0.029755129249007927	0.02924	.	.	.	.	.	0.001717	0.01139	T	-0.373008	0.03445	T	-0.773577	0.02653	T	0.00218303418063386	0.00023	T	0.340666	0.07366	T	0.044085097	0.06984	0.046755914	0.06587	0.044085097	0.06984	0.046755914	0.06587	-3.964	0.23263	T	.	.	0.161	0.35498	B	.	.	-0.079786	0.03764	0.785	0.7016925376513895	0.09208	0.01678	0.05360	N	AEFI	0.043258	0.06816	N	-1.01735734093612	0.08243	0.3858304	-1.18373099282675	0.06180	0.2967244	2.11620199757736E-5	0.03498	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.636168	0.56350	0	.	.	2.11	-2.62	0.05793	-0.723000	0.05056	-11.676000	0.00585	0.312000	0.19173	0.000000	0.06391	0.000000	0.08366	0.143000	0.20056	0.1943:0.1355:0.1985:0.4718	0.732	0.00897	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	.	.	.	.	.	.	.	.	0.07143	177.44	210	chr2	95855532	.	T	G	177.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.57;DP=1859;ExcessHet=0;FS=9.454;MLEAC=1;MLEAF=0.071;MQ=45.14;MQRankSum=-4.152;QD=0.47;ReadPosRankSum=-0.182;SOR=1.342	GT:AD:DP:GQ:PL	0/1:333,46:379:99:188,0,8659	6	0	1	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	20786.1	211	chr2	95855549	.	T	C	20786.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.376;DP=1851;ExcessHet=14.2834;FS=10.642;MLEAC=7;MLEAF=0.5;MQ=44.24;MQRankSum=-11.95;QD=11.46;ReadPosRankSum=0.027;SOR=1.217	GT:AD:DP:GQ:PL	0/1:182,164:346:99:3864,0,4601	0	0	7	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	16523.5	188	chr2	95855576	.	A	G	16523.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.709;DP=1533;ExcessHet=8.2628;FS=22.634;MLEAC=6;MLEAF=0.429;MQ=45.71;MQRankSum=-11.53;QD=11.19;ReadPosRankSum=-3.191;SOR=1.751	GT:AD:DP:GQ:PL	0/1:184,110:294:99:2934,0,5012	1	0	6	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	3141.13	173	chr2	95855586	.	T	C	3141.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.84;DP=1410;ExcessHet=4.7409;FS=16.271;MLEAC=5;MLEAF=0.357;MQ=46.63;MQRankSum=-6.422;QD=2.72;ReadPosRankSum=-1.556;SOR=1.956	GT:AD:DP:GQ:PL	0/1:264,27:291:40:40,0,9970	2	0	5	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	12615.5	167	chr2	95855588	.	T	C	12615.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.998;DP=1397;ExcessHet=8.2628;FS=30.104;MLEAC=6;MLEAF=0.429;MQ=46.88;MQRankSum=-10.46;QD=9.41;ReadPosRankSum=-4.329;SOR=2.057	GT:AD:DP:GQ:PL	0/1:192,89:281:99:2197,0,5199	1	0	6	0
chr2	95859862	95859862	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4993G:p.R1665G	.	.	.	.	.	.	.	.	0.9655	0.652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	.	.	0.0047	0.0104	0.0249	0.0111	0.0019	0.0027	0.0041	0.0044	0.0010608	164	154602	rs750486232	7.16e-07	1.984e-05	0	1.452e-06	2.806e-05	0	0	.	.	0	2.806e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.909	0.50183	P	0.879	0.62418	P	.	.	.	.	0.997846	0.22480	N	.	.	.	1.92	0.23082	T	-6.13	0.90100	D	0.406	0.44666	-1.0103	0.26823	T	0.109	0.39509	T	9	0.0084656775	0.00192	T	.	.	.	0.147	0.38986	.	.	0.424194796918	0.42034	0.04280153187885687	0.04225	.	.	0.63154566288	0.57365	T	0.133946	0.46492	T	-0.0519096	0.44157	T	-0.312341	0.43406	T	0.17266520857811	0.18759	T	0.855914	0.54393	D	0.4027896	0.60925	0.4478981	0.67854	0.4027896	0.60926	0.4478981	0.67854	-8.461	0.64171	D	.	.	0.389	0.58976	A	.	.	4.060624	0.60260	24.2	0.86029540904541768	0.16267	0.48572	0.28237	N	AEFI	0.208225	0.33432	N	-0.241315480207371	0.31452	1.763688	-0.511689011646683	0.21835	1.183132	1.04199970756841E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-1.22	0.09005	1.577000	0.36124	4.129000	0.42019	0.443000	0.21123	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	0.2258:0.0:0.2311:0.543	3.326	0.06654	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	.	.	.	.	.	.	.	.	0.07143	51.49	35	chr2	95859862	.	T	C	51.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.17;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=56.29;MQRankSum=-0.649;QD=0.99;ReadPosRankSum=0.577;SOR=0.46	GT:AD:DP:GQ:PL	0/1:45,7:52:62:62,0,1319	6	0	1	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1478.13	62	chr2	95859895	.	T	C	1478.13	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.162;DP=395;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=58.04;MQRankSum=-1.11;QD=3.84;ReadPosRankSum=0.74;SOR=0.678	GT:AD:DP:GQ:PL	0/1:68,17:85:99:509,0,2769	0	0	7	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5808.1	86	chr2	95859969	.	A	AT	5808.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.067;DP=584;ExcessHet=14.2834;FS=4.534;MLEAC=7;MLEAF=0.5;MQ=59;MQRankSum=-6.302;QD=10.15;ReadPosRankSum=-0.469;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,41:130:99:0|1:95859969_A_AT:1433,0,3593:95859969	0	0	7	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5886.14	87	chr2	95859970	.	G	T	5886.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.463;DP=588;ExcessHet=14.2834;FS=4.534;MLEAC=7;MLEAF=0.5;MQ=58.97;MQRankSum=-6.346;QD=10.22;ReadPosRankSum=-0.399;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,41:130:99:0|1:95859969_A_AT:1433,0,3593:95859969	0	0	7	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5848.14	86	chr2	95859975	.	C	T	5848.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.675;DP=581;ExcessHet=14.2834;FS=3.611;MLEAC=7;MLEAF=0.5;MQ=58.94;MQRankSum=-6.341;QD=10.17;ReadPosRankSum=-0.758;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,40:129:99:0|1:95859969_A_AT:1412,0,3596:95859969	0	0	7	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4929.98	80	chr2	95859988	.	T	C	4929.98	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.295;DP=563;ExcessHet=14.2834;FS=2.86;MLEAC=7;MLEAF=0.5;MQ=58.91;MQRankSum=-6.506;QD=9;ReadPosRankSum=-0.371;SOR=0.943	GT:AD:DP:GQ:PL	0/1:89,31:120:99:1035,0,2177	0	0	7	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	2934.14	77	chr2	95860002	.	T	A	2934.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.03;DP=541;ExcessHet=14.2834;FS=3.176;MLEAC=7;MLEAF=0.5;MQ=58.85;MQRankSum=-5.515;QD=5.56;ReadPosRankSum=-0.983;SOR=1.084	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,13:110:81:.:.:81,0,3686:.	0	0	7	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4227.14	75	chr2	95860007	.	A	T	4227.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.06;DP=520;ExcessHet=14.2834;FS=3.946;MLEAC=7;MLEAF=0.5;MQ=58.83;MQRankSum=-5.622;QD=8.26;ReadPosRankSum=-0.949;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,28:106:99:.:.:942,0,1982:.	0	0	7	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	3569.07	69	chr2	95860020	.	G	A	3569.07	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.603;DP=481;ExcessHet=14.2834;FS=5.226;MLEAC=6;MLEAF=0.429;MQ=58.68;MQRankSum=-5.391;QD=7.56;ReadPosRankSum=-1.017;SOR=1.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,27:100:99:0|1:95860020_G_A:914,0,2958:95860020	0	0	7	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	3360.29	69	chr2	95860023	.	A	C	3360.29	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.53;DP=471;ExcessHet=8.2628;FS=5.387;MLEAC=6;MLEAF=0.429;MQ=58.66;MQRankSum=-6.123;QD=7.23;ReadPosRankSum=-1.05;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,27:100:99:0|1:95860020_G_A:914,0,2958:95860020	1	0	6	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	2164.34	48	chr2	95860046	.	C	A	2164.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.436;DP=347;ExcessHet=11.5949;FS=9.343;MLEAC=7;MLEAF=0.583;MQ=58.29;MQRankSum=-6.579;QD=6.33;ReadPosRankSum=-0.695;SOR=1.274	GT:AD:DP:GQ:PL	0/1:55,20:75:99:675,0,1458	0	0	6	1
chr2	95891667	95891667	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon67:c.G3950C:p.R1317T	.	.	.	.	.	.	.	.	0	0.096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00258919318193	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1243857325	1.424e-06	0.0001	2.816e-06	0	2.71e-05	2.4e-07	9e-08	.	.	0	0	0	2.71e-05	0	0	9.245e-07	0	0	0	0.0014	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	0.578	0.08565	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	0.12	0.05604	N	0.068	0.08227	-0.9759	0.35926	T	0.147	0.47255	T	5	0.121881336	0.23111	T	0.002589	0.05235	T	0.084	0.24469	0.235	0.16457	0.393927044628	0.39002	0.0011482701666540294	0.00105	.	.	.	.	.	3.93E-4	0.00124	T	-0.222048	0.17715	T	-0.556733	0.16685	T	0.0224473349077403	0.00959	T	0.29847	0.08399	T	0.06482349	0.13793	0.07730457	0.17207	0.06482349	0.13792	0.07730457	0.17207	-0.2	0.05226	T	.	.	0.083	0.09045	B	.;.	.;.	-1.006024	0.00763	0.024	0.091701984728260702	0.00087	0.00008	0.00134	N	AEFBI	0.017924	0.00505	N	-0.606577077572815	0.18744	0.9757046	-1.03367257472638	0.09050	0.4481512	9.37543306615869E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	0.569	-0.448	0.11620	-0.076000	0.11374	-4.777000	0.01991	-2.671000	0.00217	0.154000	0.23713	0.000000	0.08366	0.001000	0.02609	.	.	.	250	0.90192	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	39.8	34	chr2	95891667	.	C	G	39.8	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.68;DP=289;ExcessHet=0.3476;FS=19.704;MLEAC=2;MLEAF=0.167;MQ=58.47;MQRankSum=-5.677;QD=0.34;ReadPosRankSum=-0.972;SOR=4.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,6:83:20:0|1:95891667_C_G:20,0,3148:95891667	4	0	2	1
chr2	95891674	95891674	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon67:c.A3943T:p.T1315S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00291427588903	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260919298	2.841e-06	0.0002	1.405e-06	4.309e-06	.	6.7e-07	4.5e-07	.	.	0	0	0	0	8.162e-05	0	0	0	0	6.687e-06	0.0024	0	1.371e-05	1.486e-05	0	0	.	.	0	0	0	0	0	0	0	1.486e-05	0	0	0.492	0.07944	T	0.292	0.20877	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.93	0.75215	T	-0.29	0.11728	N	0.043	0.02861	-1.0260	0.21756	T	0.121	0.42208	T	5	0.04610786	0.03760	T	0.002914	0.06162	T	0.098	0.28162	0.139	0.04277	0.18995819373	0.18626	3.2899001332843344E-4	0.00029	.	.	.	.	.	0.001442	0.00900	T	-0.278035	0.10877	T	-0.637155	0.09879	T	0.0239688079694826	0.01142	T	0.163384	0.02201	T	0.05901639	0.11943	0.0651601	0.13168	0.05901639	0.11943	0.0651601	0.13167	-2.145	0.24445	T	.	.	0.143	0.31355	B	.;.	.;.	-1.129647	0.00606	0.016	0.031514088493064071	0.00000	0.00007	0.00120	N	AEFBI	0.015590	0.00305	N	-1.46910891231834	0.02071	0.09107147	-1.69214697447218	0.01172	0.05275655	6.86907755470711E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	0.569	-1.14	0.09241	-0.118000	0.10665	-0.182000	0.11122	-0.854000	0.02687	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	250	0.90192	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	61.82	36	chr2	95891674	.	T	A	61.82	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.15;DP=298;ExcessHet=0.3476;FS=13.305;MLEAC=2;MLEAF=0.167;MQ=57.92;MQRankSum=-5.851;QD=0.52;ReadPosRankSum=-0.573;SOR=2.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,7:82:48:0|1:95891667_C_G:48,0,3102:95891667	4	0	2	1
chr2	95921651	95921651	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon35:c.C2276T:p.S759L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00300169495012	.	.	0.0002	0.0014	0.0001	0	0	7.82e-05	0	0	0.0001164	18	154602	rs753596988	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0004	9.018e-05	0	0	0	0	0.0002	0.0003	5.837e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	6.595e-05	0	0	0	0	0.0002	0	0.0004	0.135	0.47320	T	0.135	0.34124	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.06	0.79072	T	-0.63	0.18459	N	0.11	0.11769	-0.9879	0.33126	T	0.170	0.51133	T	6	0.018464893	0.00402	T	0.003002	0.06427	T	0.093	0.26882	0.324	0.30549	0.394990421082	0.39112	0.009643703953275651	0.00926	.	.	.	.	.	0.001007	0.00540	T	-0.154204	0.27656	T	-0.45928	0.26679	T	0.00327894109266087	0.00035	T	0.681532	0.29028	T	0.025515085	0.01497	0.034791928	0.02610	0.025515085	0.01497	0.034791928	0.02610	-4.77	0.34240	T	.	.	0.128	0.27433	B	.;.	.;.	0.126819	0.05232	1.738	0.58688537058506107	0.06050	0.00387	0.01950	N	AEFBI	0.037387	0.05132	N	-1.22058565181519	0.04702	0.2127813	-1.44179414239097	0.02845	0.131642	5.14040447807545E-4	0.07201	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.620204	0.46100	0	.	.	0.985	-1.3	0.08777	0.293000	0.18785	-0.597000	0.08290	-1.743000	0.00699	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.4043:0.0:0.5957:0.0	4.886	0.13061	252	0.90114	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	521.46	32	chr2	95921651	.	G	A	521.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.724;DP=206;ExcessHet=0;FS=1.039;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.693;SOR=0.507	GT:AD:DP:GQ:PL	0/1:31,25:56:99:532,0,713	6	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	5378.45	93	chr2	95927222	.	G	GAT	5378.45	.	AC=6;AF=0.429;AN=14;BaseQRankSum=3.55;DP=740;ExcessHet=8.2628;FS=47.786;MLEAC=6;MLEAF=0.429;MQ=54.26;MQRankSum=-8.987;QD=7.46;ReadPosRankSum=-3.489;SOR=3.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,39:158:99:0|1:95927222_G_GAT:1279,0,4867:95927222	1	0	6	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7647.22	111	chr2	95927226	.	GTT	G	7647.22	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.98;DP=834;ExcessHet=11.5949;FS=15.377;MLEAC=6;MLEAF=0.5;MQ=54.17;MQRankSum=-8.81;QD=9.31;ReadPosRankSum=-4.258;SOR=1.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,53:177:99:0|1:95927222_G_GAT:1852,0,5035:95927222	0	0	6	1
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9881.26	117	chr2	95927234	.	T	C	9881.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.882;DP=933;ExcessHet=11.5949;FS=9.538;MLEAC=6;MLEAF=0.5;MQ=53.98;MQRankSum=-10.25;QD=10.79;ReadPosRankSum=-4.892;SOR=1.331	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,67:197:99:0|1:95927222_G_GAT:2422,0,5257:95927222	0	0	6	1
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	17795.3	150	chr2	95927252	.	A	G	17795.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.09;DP=1238;ExcessHet=8.2628;FS=0.542;MLEAC=6;MLEAF=0.5;MQ=53.07;MQRankSum=-13.03;QD=14.62;ReadPosRankSum=-4.252;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,111:263:99:0|1:95927222_G_GAT:4203,0,6048:95927222	0	0	6	1
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	24657.3	182	chr2	95927268	.	C	A	24657.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.823;DP=1504;ExcessHet=8.2628;FS=3.23;MLEAC=6;MLEAF=0.5;MQ=52.22;MQRankSum=-14.46;QD=16.66;ReadPosRankSum=-2.383;SOR=0.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,149:303:99:0|1:95927222_G_GAT:5701,0,5971:95927222	0	0	6	1
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25059.3	185	chr2	95927277	.	C	T	25059.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.406;DP=1568;ExcessHet=8.2628;FS=3.217;MLEAC=6;MLEAF=0.5;MQ=52.16;MQRankSum=-14.78;QD=16.42;ReadPosRankSum=-0.832;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,154:311:99:0|1:95927222_G_GAT:5801,0,5973:95927222	0	0	6	1
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9403.14	109	chr2	95929092	.	T	C	9403.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.46;DP=834;ExcessHet=14.2834;FS=2.733;MLEAC=7;MLEAF=0.5;MQ=47.24;MQRankSum=-7.649;QD=11.37;ReadPosRankSum=-2.432;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,66:151:99:0|1:95929092_T_C:2396,0,3304:95929092	0	0	7	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10904.1	122	chr2	95929110	.	A	G	10904.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=7.44;DP=933;ExcessHet=14.2834;FS=9.276;MLEAC=7;MLEAF=0.5;MQ=45.86;MQRankSum=-7.496;QD=11.78;ReadPosRankSum=-1.573;SOR=1.331	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,78:172:99:0|1:95929092_T_C:2992,0,3712:95929092	0	0	7	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	14878.1	133	chr2	95929126	.	C	A	14878.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.97;DP=1096;ExcessHet=14.2834;FS=16.644;MLEAC=7;MLEAF=0.5;MQ=44.44;MQRankSum=-8.355;QD=13.59;ReadPosRankSum=-0.916;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,103:215:99:0|1:95929092_T_C:3988,0,4393:95929092	0	0	7	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16069.1	136	chr2	95929130	.	G	C	16069.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=5.74;DP=1133;ExcessHet=14.2834;FS=18.396;MLEAC=7;MLEAF=0.5;MQ=43.98;MQRankSum=-8.318;QD=14.18;ReadPosRankSum=-1.245;SOR=1.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,109:222:99:0|1:95929092_T_C:4237,0,4404:95929092	0	0	7	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16878.1	136	chr2	95929135	.	C	T	16878.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=4.46;DP=1199;ExcessHet=14.2834;FS=19.883;MLEAC=7;MLEAF=0.5;MQ=43.39;MQRankSum=-8.146;QD=14.46;ReadPosRankSum=-1.214;SOR=1.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,116:234:99:0|1:95929092_T_C:4478,0,4531:95929092	0	0	7	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1449.44	53	chr2	97185336	.	GC	G	1449.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.298;DP=592;ExcessHet=8.2628;FS=4.126;MLEAC=6;MLEAF=0.429;MQ=47.3;MQRankSum=-4.911;QD=2.72;ReadPosRankSum=-0.416;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,19:111:99:0|1:97185336_GC_G:521,0,3806:97185336	1	0	6	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	1427.48	54	chr2	97185340	.	C	G	1427.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.163;DP=596;ExcessHet=8.2628;FS=2.936;MLEAC=6;MLEAF=0.429;MQ=47.07;MQRankSum=-4.73;QD=2.65;ReadPosRankSum=0.212;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,19:112:99:0|1:97185336_GC_G:518,0,3848:97185336	1	0	6	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1421.44	55	chr2	97185341	.	A	AG	1421.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.101;DP=598;ExcessHet=8.2628;FS=2.924;MLEAC=6;MLEAF=0.429;MQ=46.99;MQRankSum=-4.73;QD=2.63;ReadPosRankSum=0.2;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,19:114:99:0|1:97185336_GC_G:512,0,3932:97185336	1	0	6	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1417.44	57	chr2	97185345	.	GTAAT	G	1417.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.295;DP=624;ExcessHet=8.2628;FS=5.664;MLEAC=6;MLEAF=0.429;MQ=46.33;MQRankSum=-4.278;QD=2.5;ReadPosRankSum=0.674;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,19:117:99:0|1:97185336_GC_G:503,0,4058:97185336	1	0	6	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	15899.3	101	chr2	97513220	.	G	A	15899.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.012;DP=819;ExcessHet=11.5949;FS=1.796;MLEAC=7;MLEAF=0.583;MQ=37.36;MQRankSum=-4.104;QD=19.48;ReadPosRankSum=0.6;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,82:114:99:0|1:97513219_T_C:3347,0,1097:97513219	0	0	6	1
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	17092.3	109	chr2	97513227	.	T	C	17092.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.344;DP=900;ExcessHet=11.5949;FS=2.51;MLEAC=7;MLEAF=0.583;MQ=37.92;MQRankSum=-4.452;QD=19.58;ReadPosRankSum=1.08;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,93:126:99:0|1:97513219_T_C:3806,0,1106:97513219	0	0	6	1
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	20767.0	120	chr2	97513244	.	G	T	20767.0	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.977;DP=1023;ExcessHet=8.2628;FS=0.524;MLEAC=6;MLEAF=0.429;MQ=38.49;MQRankSum=-5.106;QD=20.34;ReadPosRankSum=0.451;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,123:162:99:0|1:97513244_G_T:5047,0,1267:97513244	1	0	6	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	21976.1	130	chr2	97513253	.	A	G	21976.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.633;DP=1084;ExcessHet=14.2834;FS=1.729;MLEAC=7;MLEAF=0.5;MQ=38.62;MQRankSum=-5.367;QD=20.46;ReadPosRankSum=-0.152;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,126:168:99:0|1:97513244_G_T:5164,0,1384:97513244	0	0	7	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	21979.1	129	chr2	97513254	.	C	T	21979.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.182;DP=1084;ExcessHet=14.2834;FS=1.105;MLEAC=7;MLEAF=0.5;MQ=38.6;MQRankSum=-5.281;QD=20.48;ReadPosRankSum=-0.089;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,126:168:99:0|1:97513244_G_T:5164,0,1384:97513244	0	0	7	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	23134.1	135	chr2	97513268	.	C	T	23134.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.204;DP=1127;ExcessHet=14.2834;FS=1.103;MLEAC=7;MLEAF=0.5;MQ=39;MQRankSum=-5.273;QD=20.6;ReadPosRankSum=-0.689;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,128:173:99:0|1:97513268_C_T:5239,0,1504:97513268	0	0	7	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	20800.1	137	chr2	97513270	.	A	C	20800.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.107;DP=1138;ExcessHet=14.2834;FS=1.1;MLEAC=7;MLEAF=0.5;MQ=39.03;MQRankSum=-5.362;QD=18.37;ReadPosRankSum=-0.967;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,129:174:99:0|1:97513268_C_T:5281,0,1501:97513268	0	0	7	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	23472.1	137	chr2	97513271	.	T	C	23472.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.301;DP=1143;ExcessHet=14.2834;FS=1.103;MLEAC=7;MLEAF=0.5;MQ=39.04;MQRankSum=-5.362;QD=20.59;ReadPosRankSum=-0.917;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,131:176:99:0|1:97513268_C_T:5325,0,1495:97513268	0	0	7	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	23449.1	142	chr2	97513281	.	C	T	23449.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.063;DP=1159;ExcessHet=14.2834;FS=1.102;MLEAC=7;MLEAF=0.5;MQ=39.29;MQRankSum=-5.39;QD=20.41;ReadPosRankSum=-0.462;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,135:180:99:0|1:97513268_C_T:5392,0,1463:97513268	0	0	7	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	4532.09	85	chr2	97513354	.	T	C	4532.09	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.484;DP=650;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=40.44;MQRankSum=-2.424;QD=7.23;ReadPosRankSum=0.855;SOR=0.702	GT:AD:DP:GQ:PL	0/1:63,40:103:99:821,0,1588	0	0	7	0
chr2	97859368	97859368	G	A	exonic	TMEM131	.	nonsynonymous SNV	TMEM131:NM_015348:exon5:c.C419T:p.T140M	.	496	1023	2	1	0	4	0.00195122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	.	.	0.00459265	0.0027	0.0001	0.0002	0.0006	0	1.505e-05	0	0.0195	0.0023415	362	154602	rs567668237	0.0011	0.0012	0.0006	0.0016	0.0186	0.0011	0.0011	0.0178	0.0175	3.067e-05	0	0	5.182e-05	0	0.0010	7.223e-06	0.0010	0.0186	0.0007	0.0007	0.0003	0.0011	0.0201	0.0006	0.0005	0.0169	0.0157	9.633e-05	0	0	0	0.0006	0	0	2.941e-05	0	0.0201	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000002	0.62929	D	0.000000	0.999978	0.58761	D	1.445	0.36358	L	1.35	0.34648	T	-2.94	0.73788	D	0.689	0.69474	-0.8114	0.54466	T	0.203	0.55961	T	10	0.00784117	0.00178	T	.	.	.	0.273	0.58883	0.256	0.19689	0.102598925029	0.09809	0.39732465431329594	0.39647	0.777241009746	0.65098	0.684796333313	0.64957	T	0.286933	0.65973	T	-0.221165	0.17834	T	-0.076185	0.65181	T	0.0818065342101719	0.10217	T	0.961704	0.85587	D	0.3491662	0.57002	0.41886434	0.65897	0.3491662	0.57002	0.41886434	0.65898	-7.103	0.54782	T	.	.	0.179	0.39081	B	.;.	.;.	5.442897	0.90959	32	0.99543118212975723	0.70648	0.97717	0.76626	D	AEFBI	0.869928	0.79068	D	0.78969414947784	0.85456	8.581562	0.801450758393439	0.89892	10.167	0.999950665974972	0.48110	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.79	5.79	0.91751	7.453000	0.79758	11.797000	0.96542	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.025	0.92908	459	0.78817	Transmembrane protein 131-like domain;Transmembrane protein 131-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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1305.44	34	chr2	97859368	.	G	A	1305.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.283;DP=291;ExcessHet=0;FS=3.596;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-2.616;SOR=0.409	GT:AD:DP:GQ:PL	0/1:48,60:108:99:1316,0,1002	6	0	1	0
chr2	98303715	98303715	G	A	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_001345864:exon20:c.G2405A:p.R802Q,VWA3B:NM_144992:exon26:c.G3434A:p.R1145Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.0308205957304	.	.	3.323e-05	0.0002	0	0	0	1.503e-05	0	6.088e-05	2.59e-05	4	154602	rs760289046	2.942e-05	2.941e-05	2.45e-05	3.438e-05	0.0003	2.216e-05	1.97e-05	0.0002	0.0001	0.0003	6.708e-05	0	0	0	0	2.338e-05	3.312e-05	2.319e-05	5.262e-05	5.912e-05	6.428e-05	4.041e-05	0.0002	2.559e-05	1.832e-05	9.581e-05	6.974e-05	0.0002	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.256224	0.15406	U	0.337772	0.749929	0.33917	D	2.515	0.73286	M	1.83	0.24841	T	-2.74	0.58248	D	0.648	0.81559	-0.9769	0.35705	T	0.136	0.45222	T	10	0.6371488	0.68847	D	0.030821	0.53045	D	0.302	0.62290	0.543	0.65589	0.40146981186	0.39757	0.7210935176353107	0.72052	0.489858730717	0.47738	0.527889490128	0.42738	T	0.057875	0.30687	T	-0.203027	0.20368	T	-0.213255	0.53383	T	0.512149897133169	0.33076	D	0.878612	0.59406	D	0.28780034	0.51788	0.23886989	0.49221	0.28780034	0.51787	0.23886989	0.49220	-9.652	0.71802	D	.	.	0.827	0.81170	P	.;.	.;.	5.573835	0.92244	32	0.99948976124410094	0.99931	0.91952	0.54619	D	AEFBI	0.551825	0.56373	D	0.673133019785712	0.77874	6.759186	0.634351102324104	0.77451	6.681775	0.0168610153377784	0.12882	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.47	4.47	0.53770	5.926000	0.69791	11.751000	0.95409	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	12.821	0.57076	433	0.80627	Domain of unknown function DUF4537;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	928.53	20	chr2	98303715	.	G	A	928.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.492;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.414;SOR=0.627	GT:AD:DP:GQ:PL	0/1:32,40:72:99:939,0,657	6	0	1	0
chr2	104856099	104856101	GCC	-	exonic	POU3F3	.	nonframeshift deletion	POU3F3:NM_006236:exon1:c.589_591del:p.A204del	.	490	979	12	5	36	58	0.0111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	.	.	.	.	.	0	0.2143	3.84e-05	1	26028	rs775150602	0.0016	0.0091	0.0013	0.0020	0.0135	0.0016	0.0015	0.0114	0.0107	0.0020	0.0103	0.0045	0.0135	0.0151	0.0010	0.0013	0.0028	0.0011	0.0001	0.0002	0.0001	0.0001	0.0005	7.443e-05	6.095e-05	8.005e-05	5.669e-05	0.0001	0	7.211e-05	0	0.0005	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065217	0.078947	0.038462	0.029412	0.000000	0.500000	0.073529	0.178571	0.08333	50.52	6	chr2	104856098	.	AGCC	A	50.52	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=43;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.05;ReadPosRankSum=1.01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,2:10:60:60,0,330	5	0	1	1
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	6150.48	116	chr2	108259015	.	G	*	6150.48	.	AC=10;AF=0.714;AN=14;DP=903;ExcessHet=0.3476;FS=0;MLEAC=10;MLEAF=0.714;MQ=60;QD=7.4;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,70:172:99:.:.:5699,3009,4738:.	0	3	4	0
chr2	108659654	108659654	G	A	exonic	LIMS1	.	nonsynonymous SNV	LIMS1:NM_001193482:exon2:c.G58A:p.G20S,LIMS1:NM_001193483:exon2:c.G82A:p.G28S,LIMS1:NM_001193484:exon2:c.G157A:p.G53S,LIMS1:NM_001193485:exon2:c.G232A:p.G78S,LIMS1:NM_001193488:exon2:c.G46A:p.G16S,LIMS1:NM_001371494:exon2:c.G232A:p.G78S,LIMS1:NM_001371495:exon2:c.G82A:p.G28S,LIMS1:NM_001371496:exon2:c.G109A:p.G37S,LIMS1:NM_001371497:exon2:c.G67A:p.G23S,LIMS1:NM_001371498:exon2:c.G46A:p.G16S,LIMS1:NM_001371499:exon2:c.G232A:p.G78S,LIMS1:NM_001371500:exon2:c.G157A:p.G53S,LIMS1:NM_004987:exon2:c.G46A:p.G16S	.	824	693	5	0	0	5	0.00359454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.591	.	0.0078	0.00219649	0.0075	0.0012	0.0013	0.0001	0.0089	0.0118	0.0088	0.0017	0.000608	94	154602	rs146149508	0.0094	0.0094	0.0095	0.0092	0.0111	0.0092	0.0092	0.0109	0.0109	0.0019	0.0023	0.0029	2.519e-05	0.0097	0.0028	0.0111	0.0070	0.0017	0.0066	0.0067	0.0067	0.0065	0.0102	0.0062	0.0061	0.0096	0.0093	0.0016	0.0252	0.0061	0.0026	0	0.0100	0.0034	0.0102	0.0024	0.0008	0.083	0.33091	T	0.495	0.35970	T	0.377	0.34270	B	0.087	0.29615	B	0.000860	0.41440	D	0.160833	1	0.81001	D	1.425	0.35738	L	-2.23	0.87116	D	-2.24	0.89534	N	0.675	0.69737	-0.0034	0.82186	T	0.494	0.80796	T	10	0.01149556	0.00251	T	.	.	.	0.591	0.83691	.	.	0.893865455903	0.89282	0.1882394925010245	0.18741	.	.	0.620425760746	0.55790	T	0.332631	0.84872	T	-0.147854	0.28649	T	0.0242365	0.71904	D	0.0226388658297327	0.00981	T	0.940206	0.77406	D	0.16084781	0.36053	0.1347942	0.32291	0.16084781	0.36053	0.1347942	0.32290	-9.316	0.72991	D	.	.	0.086	0.29144	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.067175	0.60402	24.2	0.9971118846725171	0.81353	0.97468	0.74944	D	AEFBI	0.848009	0.76485	D	0.201764222649251	0.51285	3.310938	0.290028339911929	0.54956	3.659272	0.999999999999743	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.63	4.63	0.57175	5.726000	0.68163	8.584000	0.77658	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.597000	0.31313	0.0:0.0:1.0:0.0	17.668	0.88113	867	0.32089	.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;.;.;.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001086	0.000000	0.000000	0.004132	0.000000	0.000000	0.003247	0.000000	0.07143	403.44	33	chr2	108659654	.	G	A	403.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=467;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=43.63;MQRankSum=-1.747;QD=4.53;ReadPosRankSum=-0.239;SOR=0.743	GT:AD:DP:GQ:PL	0/1:66,23:89:99:414,0,1512	6	0	1	0
chr2	113735790	113735790	T	A	exonic	SLC35F5	.	nonsynonymous SNV	SLC35F5:NM_001330314:exon8:c.A801T:p.L267F,SLC35F5:NM_001330315:exon8:c.A819T:p.L273F,SLC35F5:NM_001330316:exon8:c.A819T:p.L273F,SLC35F5:NM_025181:exon8:c.A819T:p.L273F	.	490	1028	4	0	0	4	0.00194175	.	.	.	696983	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.304	.	0.0029	0.00259585	0.0035	0.0008	0.0041	0.0001	0	0.0045	0.0059	0.0040	0.0035705	552	154602	rs148152519	0.0050	0.0050	0.0051	0.0049	0.0057	0.0049	0.0048	0.0055	0.0055	0.0006	0.0038	0.0017	0	0.0005	0.0019	0.0057	0.0049	0.0044	0.0035	0.0035	0.0038	0.0032	0.0076	0.0033	0.0032	0.0065	0.0060	0.0008	0	0.0076	0.0014	0.0002	0.0002	0.0034	0.0052	0.0043	0.0021	0.004	0.65419	D	0.005	0.72224	D	0.983	0.60381	D	0.935	0.67021	D	0.000007	0.62929	D	0.000000	0.996985	0.43549	D	3.23	0.89537	M	0.5	0.55608	T	-3.18	0.64478	D	0.814	0.80964	-0.5755	0.65795	T	0.248	0.61762	T	10	0.014171064	0.00298	T	.	.	.	0.462	0.75889	0.757	0.88648	0.774597630533	0.77252	0.8210568233368798	0.82062	0.45221040053	0.44952	0.845086038113	0.88871	D	0.278399	0.65105	T	-0.0738966	0.40702	T	0.123688	0.78480	D	0.0594953684000898	0.07088	T	0.951405	0.81464	D	0.32032996	0.54668	0.30369455	0.56399	0.32032996	0.54668	0.30369455	0.56398	-12.653	0.87883	D	.	.	0.275	0.64808	B	.;.	.;.	3.597810	0.50803	23.0	0.99794053071640543	0.87928	0.78503	0.38740	D	AEBI	0.318076	0.42188	N	0.159816399932336	0.49277	3.129954	0.0468951565094147	0.41922	2.526804	0.213328504635467	0.18266	0.732398	0.92422	0	0.709663	0.81188	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	4.85	2.04	0.25787	0.396000	0.20592	0.238000	0.16272	-0.349000	0.05595	0.995000	0.38783	0.933000	0.28592	0.995000	0.73285	0.0:0.7401:0.0:0.2599	8.034	0.29640	733	0.53988	EamA domain;EamA 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	0.002525	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	684.63	34	chr2	113735790	.	T	A	684.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.618;DP=228;ExcessHet=0;FS=2.268;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.697;SOR=0.907	GT:AD:DP:GQ:PL	0/1:28,28:56:99:695,0,770	6	0	1	0
chr2	119524159	119524159	T	C	exonic	SCTR	.	nonsynonymous SNV	SCTR:NM_002980:exon1:c.A68G:p.H23R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0008	0.000998403	0.0004	0.0042	0.0039	0	0	0	0	0	0.0001294	20	154602	rs201624828	6.64e-05	7.183e-05	7.122e-05	6.145e-05	0.0023	5.515e-05	5.112e-05	0.0018	0.0017	0.0023	0.0002	0	0	0	0.0002	0	0.0003	0	0.0009	0.0009	0.0009	0.0009	0.0031	0.0008	0.0007	0.0027	0.0025	0.0031	0	0.0003	0	0	0	0	0	0	0	0.361	0.11882	T	0.378	0.16086	T	0.007	0.14184	B	0.002	0.06944	B	0.362709	0.04314	N	1.519390	1	0.08975	N	0.895	0.22405	L	0.64	0.52867	T	-1.24	0.31375	N	0.084	0.06059	-1.0640	0.10784	T	0.058	0.24279	T	10	0.0065790713	0.00149	T	.	.	.	0.009	0.00846	.	.	0.313210971179	0.30940	0.13858907434218593	0.13781	0.114024005807	0.12861	0.551463782787	0.46064	T	0.149073	0.48792	T	-0.600857	0.00144	T	-0.642033	0.09522	T	0.0155929707624359	0.00356	T	0.160684	0.01448	T	0.037651382	0.04868	0.0359155	0.02936	0.037651382	0.04868	0.0359155	0.02936	-1.684	0.02187	T	.	.	0.053	0.00291	B	.	.	-0.036515	0.04038	0.930	0.46248756526633289	0.03690	0.07794	0.13790	N	AEFDBHCIJ	0.063868	0.12369	N	-1.41848865699363	0.02476	0.1094139	-1.44327833330052	0.02832	0.1309857	0.786948331451073	0.23947	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.530356	0.10902	0	.	.	3.19	-0.824	0.10266	-0.066000	0.11556	-0.181000	0.11132	-1.823000	0.00598	0.025000	0.20085	0.299000	0.24210	0.001000	0.02609	0.0:0.2538:0.2211:0.5251	3.132	0.06041	930	0.16408	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	920.49	34	chr2	119524159	.	T	C	920.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.765;DP=254;ExcessHet=0;FS=0.852;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-1.515;SOR=0.527	GT:AD:DP:GQ:PL	0/1:38,43:81:99:931,0,909	6	0	1	0
chr2	121281207	121281207	G	A	exonic	TFCP2L1	.	nonsynonymous SNV	TFCP2L1:NM_014553:exon2:c.C127T:p.R43C	.	417	1092	12	1	0	14	0.00636943	.	.	.	719221	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.173	.	0.0031	0.0135783	0.0071	0.0010	0.0018	0.0247	0.0003	0.0026	0.0099	0.0265	0.0065523	1013	154602	rs36096257	0.0055	0.0055	0.0049	0.0061	0.0369	0.0054	0.0054	0.0354	0.0347	0.0006	0.0019	0.0018	0.0369	0.0006	0.0023	0.0034	0.0055	0.0259	0.0036	0.0037	0.0032	0.0042	0.0298	0.0034	0.0033	0.0258	0.0243	0.0008	0	0.0011	0.0035	0.0293	9.42e-05	0	0.0027	0.0052	0.0298	0.006	0.61437	D	0.022	0.57587	D	0.6	0.39325	P	0.601	0.50808	P	0.037719	0.24369	N	0.426048	0.998322	0.44771	D	0.69	0.16971	N	2.25	0.17761	T	-2.95	0.61580	D	0.32	0.36043	-1.0971	0.04460	T	0.009	0.03403	T	10	0.006480187	0.00147	T	.	.	.	0.173	0.43840	.	.	0.0934897674506	0.08844	0.34810214350833574	0.34724	1.22236575028	0.81114	0.514001905918	0.40783	T	0.510856	0.82704	D	-0.556174	0.00268	T	-0.526892	0.19597	T	0.0407921370854807	0.03834	T	0.860814	0.55431	D	0.17729826	0.38688	0.17207918	0.39436	0.17729826	0.38688	0.17207918	0.39435	-8.254	0.62788	D	.	.	0.117	0.23814	B	.	.	5.299185	0.88967	29.8	0.99918663217454828	0.98586	0.92661	0.56239	D	AEFDBI	0.770655	0.70553	D	0.323335413033749	0.57349	3.901808	0.415104801820094	0.62505	4.46701	0.997185812332348	0.35354	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.2	4.24	0.49486	5.735000	0.68231	7.187000	0.57764	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.5616:0.4384	10.589	0.44488	962	0.08456	CP2 transcription factor	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.004076	0.002924	0.000000	0.000000	0.015244	0.003788	0.07143	750.49	45	chr2	121281207	.	G	A	750.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.672;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=1.65;SOR=0.617	GT:AD:DP:GQ:PL	0/1:30,33:63:99:761,0,711	6	0	1	0
chr2	130193847	130193847	A	G	exonic	TUBA3E	.	nonsynonymous SNV	TUBA3E:NM_207312:exon4:c.T995C:p.I332T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785	0.0213278058338	.	.	8.252e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs778961712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.42086	T	1.0	0.90584	D	1.0	0.97372	D	0.000107	0.50451	U	0.000000	0.999257	0.46462	D	3.195	0.89043	M	-1.65	0.82625	D	-3.31	0.65972	D	0.808	0.80375	0.437	0.89646	D	0.693	0.89407	D	10	0.93653923	0.92983	D	0.021328	0.44082	T	0.785	0.92868	0.79	0.91217	0.840296933724	0.83876	0.6153953610287382	0.61471	.	.	0.823303520679	0.85535	D	0.57857	0.86163	D	0.312488	0.83929	D	0.211091	0.83721	D	0.987806260585785	0.78233	D	0.937806	0.76632	D	0.7458287	0.80627	0.6943319	0.82006	0.7458287	0.80628	0.6943319	0.82007	-12.435	0.86906	D	.	.	0.810	0.77740	P	.	.	3.812194	0.54996	23.6	0.98126902119866677	0.38481	0.92061	0.54858	D	AEFI	0.949053	0.96129	D	0.549897872241856	0.70075	5.448662	0.390883225166419	0.61002	4.294412	0.58878817059422	0.21630	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	2.96	2.96	0.33383	7.997000	0.87980	.	.	0.634000	0.51959	1.000000	0.71638	1.000000	0.68203	0.061000	0.16044	1.0:0.0:0.0:0.0	9.303	0.37020	982	0.03397	Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	4327.44	47	chr2	130193847	.	A	G	4327.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.487;DP=588;ExcessHet=0;FS=0.403;MLEAC=1;MLEAF=0.071;MQ=59.92;MQRankSum=-0.474;QD=13.4;ReadPosRankSum=-2.664;SOR=0.679	GT:AD:DP:GQ:PL	0/1:152,171:323:99:4338,0,3813	6	0	1	0
chr2	130657618	130657618	G	A	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon15:c.G2858A:p.R953H	.	23	1497	2	0	0	2	0.000667557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.00886084536981	.	.	0.0008	0	0.0015	0	0	0.0004	0.0081	0.0016	3.84e-05	1	26028	rs760892111	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	3.32e-05	4.53e-05	3.924e-05	2.522e-05	0	0.0005	0.0003	0.0001	0.0004	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	9.611e-05	0.0004	0.0002	3.529e-05	0	8.005e-05	0	0.0002	0.0001	0	0.0002	0	0.0010	0.0	0.91255	D	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	0.990504	0.24162	N	2.89	0.83701	M	-3.84	0.95826	D	-3.97	0.73684	D	0.253	0.28616	0.594	0.91823	D	0.896	0.96539	D	7	0.31159663	0.48628	T	0.008861	0.23366	T	0.351	0.67234	0.851	0.95260	0.404592120364	0.40076	0.1480806496777454	0.14730	.	.	.	.	.	0.688591	0.90924	D	-0.179875	0.23755	T	-0.125069	0.61383	T	0.339631812302594	0.26609	T	0.79872	0.44372	T	0.29141822	0.52124	0.28957516	0.54978	0.29141822	0.52124	0.28957516	0.54977	-6.628	0.51267	T	.	.	0.212	0.44095	B	.	.	1.481415	0.19071	14.07	0.97540697671759113	0.34512	0.50301	0.28631	D	AEFI	.	.	.	-0.632435182623006	0.17975	0.9295659	-0.900603049983904	0.12080	0.6193126	1.596939622828E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	0.736	-1.47	0.08312	5.203000	0.65009	.	.	-0.963000	0.01971	1.000000	0.71638	0.497000	0.25183	0.050000	0.15192	0.2634:0.0:0.7366:0.0	4.958	0.13401	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	841.55	28	chr2	130657618	.	G	A	841.55	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.475;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=37.61;MQRankSum=0.669;QD=14.26;ReadPosRankSum=-0.918;SOR=0.569	GT:AD:DP:GQ:PL	0/1:29,30:59:99:852,0,786	6	0	1	0
chr2	135271856	135271856	G	T	exonic	ZRANB3	.	stopgain	ZRANB3:NM_001286568:exon10:c.C1118A:p.S373X,ZRANB3:NM_032143:exon10:c.C1118A:p.S373X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs901639958	5.474e-06	5.472e-06	4.085e-06	6.878e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.049529	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.446	0.48411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622132	0.98769	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	7.922519	0.96995	36	0.99378058695153115	0.61759	0.98869	0.87939	D	AEFDI	0.243249	0.36456	N	1.16569086177033	0.99172	21.03669	1.04592236039685	0.99334	21.98734	0.999999998056272	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.94	5.94	0.96165	7.739000	0.83905	4.882000	0.45676	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	20.359	0.98850	824	0.40336	.;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	595.53	23	chr2	135271856	.	G	T	595.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.379;DP=218;ExcessHet=0;FS=0.948;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=0.726;SOR=0.836	GT:AD:DP:GQ:PL	0/1:32,30:62:99:606,0,737	6	0	1	0
chr2	135776317	135776317	C	T	exonic	UBXN4	.	nonsynonymous SNV	UBXN4:NM_014607:exon10:c.C1019T:p.A340V	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0116961689324	.	.	0.0001	0	8.648e-05	0	0	1.5e-05	0.0011	0.0008	0.0001035	16	154602	rs774513849	7.32e-05	7.388e-05	2.314e-05	0.0001	0.0012	6.181e-05	5.742e-05	0.0010	0.0009	0	0	0	0	0	0	0	8.279e-05	0.0012	5.252e-05	5.249e-05	1.285e-05	9.398e-05	0.0017	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.167	0.23095	T	0.187	0.28764	T	0.992	0.64738	D	0.812	0.58704	P	0.000077	0.52346	D	0.176676	0.999981	0.54805	D	2.175	0.60977	M	2.21	0.18414	T	-2.16	0.48850	N	0.441	0.47949	-1.1535	0.00924	T	0.099	0.36856	T	10	0.13034695	0.24805	T	0.011696	0.29585	T	0.186	0.46104	0.48	0.55983	0.082315109003	0.07666	0.4535407849704472	0.45272	0.815842704147	0.66935	0.629741132259	0.57108	T	0.081734	0.36666	T	-0.376098	0.03296	T	-0.391003	0.34433	T	0.333219319581985	0.26354	T	0.907009	0.67171	D	0.082731254	0.19072	0.15618022	0.36577	0.082731254	0.19072	0.15618022	0.36576	-7.136	0.55020	T	.	.	0.121	0.24967	B	.	.	4.266824	0.64883	24.8	0.99889732656917596	0.96436	0.94511	0.61402	D	AEFBI	0.544517	0.55941	D	0.610344560360246	0.73828	6.030362	0.626490592525328	0.76868	6.571362	0.996196573871193	0.34585	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	2.743000	0.47117	5.808000	0.49986	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.186	0.98215	290	0.88477	UBX domain|UBX domain|UBX 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	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	960.83	39	chr2	135776317	.	C	T	960.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.48;DP=280;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.573;SOR=0.693	GT:AD:DP:GQ:PL	0/1:58,42:100:99:971,0,1310	6	0	1	0
chr2	140700613	140700613	C	A	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon41:c.G6436T:p.V2146F	.	441	1053	27	1	0	29	0.0135831	.	.	.	719267	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.294	.	0.0017	0.00339457	0.0035	9.731e-05	0.0020	0	0.0005	0.0030	0.0055	0.0114	0.0031112	481	154602	rs145744070	0.0029	0.0029	0.0024	0.0033	0.0137	0.0028	0.0028	0.0130	0.0128	0.0004	0.0018	0.0101	5.042e-05	0.0006	0.0127	0.0021	0.0033	0.0137	0.0021	0.0021	0.0019	0.0023	0.0106	0.0019	0.0018	0.0083	0.0074	0.0003	0	0.0024	0.0092	0	0.0004	0.0136	0.0025	0.0043	0.0106	0.033	0.44358	D	0.015	0.61642	D	0.077	0.24313	B	0.034	0.22546	B	0.001916	0.37691	U	0.177257	0.999982	0.54805	D	0.75	0.19020	N	-3.75	0.95528	D	-3.02	0.62630	D	0.322	0.36254	0.090	0.83987	D	0.656	0.88050	D	10	0.01934126	0.00431	T	.	.	.	0.294	0.61388	.	.	0.289027227714	0.28505	0.6134016044301749	0.61272	0.250177817609	0.27598	0.353197097778	0.18392	T	0.565857	0.85545	D	-0.264991	0.12321	T	-0.142386	0.59910	T	0.029764845525991	0.01953	T	0.963604	0.86445	D	0.1786296	0.38893	0.16508277	0.38209	0.1786296	0.38893	0.16508277	0.38208	-6.738	0.52096	T	.	.	0.113	0.22391	B	.	.	1.773667	0.22555	15.67	0.98923734901163618	0.48602	0.76164	0.37334	D	AEFDI	0.259673	0.37797	N	-0.467575922367074	0.23148	1.241068	-0.372939358601287	0.25807	1.421501	1.72389479226269E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	4.47	1.62	0.22817	0.139000	0.15858	.	.	-0.249000	0.07183	0.968000	0.34134	0.756000	0.26587	0.958000	0.51230	0.0:0.5814:0.0:0.4186	7.738	0.27988	945	0.12563	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	0	0	1	0	0.009567	0.005051	0.008152	0.002924	0.000000	0.017241	0.015244	0.011364	0.08333	917.27	33	chr2	140700613	.	C	A	917.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.05;DP=282;ExcessHet=0;FS=1.845;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.602;SOR=0.941	GT:AD:DP:GQ:PL	0/1:54,37:91:99:927,0,1358	5	0	1	1
chr2	140994107	140994107	T	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon16:c.A2532G:p.I844M	.	427	1063	30	2	0	34	0.0157407	.	.	.	697039	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.195	.	0.0028	0.0117812	0.0063	0.0007	0.0021	0.0001	0	0.0024	0.0077	0.0341	0.0058343	902	154602	rs147402550	0.0049	0.0049	0.0040	0.0059	0.0345	0.0048	0.0048	0.0335	0.0331	0.0007	0.0016	0.0007	0.0001	0.0001	0.0096	0.0033	0.0054	0.0345	0.0028	0.0028	0.0025	0.0031	0.0371	0.0026	0.0025	0.0327	0.0310	0.0007	0	0.0022	0.0009	0.0002	0	0.0034	0.0026	0.0028	0.0371	0.152	0.24468	T	0.011	0.64786	D	0.001	0.07471	B	0.003	0.08700	B	0.847102	0.07035	N	1.087950	0.999963	0.18878	N	0	0.06538	N	-2.83	0.91249	D	1.04	0.01332	N	0.099	0.08088	-0.7360	0.58658	T	0.362	0.72354	T	10	0.0046260953	0.00096	T	.	.	.	0.195	0.47612	.	.	0.182106788282	0.17826	0.11120296238086644	0.11049	0.231434023854	0.25697	0.361388236284	0.19588	T	0.082083	0.36747	T	-0.453682	0.01074	T	-0.399392	0.33455	T	0.00324615327500798	0.00034	T	0.60284	0.22604	T	0.057276886	0.11379	0.057300694	0.10391	0.057276886	0.11378	0.057300694	0.10391	-3.998	0.23774	T	.	.	0.081	0.08272	B	.	.	0.184167	0.05711	2.158	0.96061534495411727	0.28593	0.04186	0.09688	N	AEFI	0.071648	0.14272	N	-1.18149815456394	0.05280	0.2403164	-1.18537793561606	0.06153	0.2952971	0.00345728987212099	0.10124	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	-6.16	0.01919	-0.732000	0.05008	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.909000	0.44452	0.1881:0.173:0.4111:0.2277	2.222	0.03731	558	0.71484	.	.	.	.	.	.	Likely benign	0	0	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	0.008056	0.005051	0.002717	0.005848	0.000000	0.017241	0.006098	0.026515	0.07143	2488.45	33	chr2	140994107	.	T	C	2488.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.33;DP=369;ExcessHet=0;FS=0.571;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.23;SOR=0.791	GT:AD:DP:GQ:PL	0/1:78,98:176:99:2499,0,1719	6	0	1	0
chr2	149571164	149571164	T	C	exonic	MMADHC	.	nonsynonymous SNV	MMADHC:NM_015702:exon7:c.A617G:p.N206S	Homocystinuria, cblD type, variant 1, Autosomal recessive;Methylmalonic aciduria and homocystinuria, cblD type, Autosomal recessive;Methylmalonic aciduria, cblD type, variant 2, Autosomal recessive	2	1479	39	2	0	43	0.0143286	.	.	.	215216	Disorders_of_Intracellular_Cobalamin_Metabolism|not_specified|not_provided|Methylmalonic_aciduria_and_homocystinuria_type_cblD|MMADHC-related_disorder	MedGen:CN043592|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010185,MedGen:C1848552,OMIM:277410,Orphanet:622,Orphanet:79283|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.212	.	0.0010	0.00379393	0.0028	0.0003	0.0004	0.0001	0.0003	0.0017	0.0022	0.0134	0.002652	410	154602	rs138607412	0.0019	0.0019	0.0016	0.0022	0.0130	0.0019	0.0019	0.0124	0.0121	0.0004	0.0006	0.0082	0.0001	0.0002	0.0078	0.0011	0.0027	0.0130	0.0014	0.0014	0.0012	0.0016	0.0116	0.0012	0.0011	0.0092	0.0083	0.0004	0	0.0012	0.0081	0	0.0002	0	0.0013	0	0.0116	0.917	0.03028	T	0.681	0.06090	T	0.0	0.02946	B	0.001	0.06944	B	0.399107	0.13149	N	0.768667	1	0.08975	N	1.085	0.27262	L	-2.3	0.87671	D	-0.04	0.07590	N	0.104	0.14480	-0.8364	0.52885	T	0.319	0.68805	T	10	0.007954836	0.00181	T	.	.	.	0.212	0.50341	.	.	0.300110245524	0.29617	0.11788420008729183	0.11715	0.0292187465592	0.03006	0.236057907343	0.02446	T	0.142872	0.59194	T	-0.543293	0.00320	T	-0.541503	0.18149	T	0.00165468606765495	0.00017	T	0.241876	0.12411	T	0.046905674	0.07928	0.03864054	0.03776	0.04831986	0.08403	0.043936834	0.05578	-3.148	0.11855	T	0.1031454902373414	0.07921	0.046	0.00890	B	.;.;.	.;.;.	-2.183947	0.00067	0.001	0.19098387421944168	0.00630	0.04333	0.09893	N	AEFBI	0.152696	0.27743	N	-2.00063838674196	0.00211	0.009040441	-2.09712911859174	0.00189	0.008322603	0.999999995948491	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.4	-10.8	0.00171	-1.622000	0.02145	-6.267000	0.01447	-3.903000	0.00053	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.0:0.5313:0.0806:0.388	13.640	0.61721	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	1	0	0.006104	0.000000	0.002732	0.005882	0.000000	0.008621	0.012579	0.015267	0.07143	531.63	33	chr2	149571164	.	T	C	531.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.764;DP=244;ExcessHet=0;FS=0.911;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=-0.082;SOR=0.837	GT:AD:DP:GQ:PL	0/1:43,28:71:99:542,0,905	6	0	1	0
chr2	151463112	151463112	A	G	exonic	RIF1	.	nonsynonymous SNV	RIF1:NM_001177665:exon29:c.A3592G:p.S1198G,RIF1:NM_001177663:exon30:c.A3592G:p.S1198G,RIF1:NM_001177664:exon30:c.A3592G:p.S1198G,RIF1:NM_018151:exon30:c.A3592G:p.S1198G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00885878008947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.025	0.56192	D	0.78	0.47373	P	0.197	0.43123	B	0.223040	0.16094	N	0.663418	0.970425	0.38797	D	2.175	0.60977	M	2.41	0.15492	T	-1.85	0.48687	N	0.127	0.13198	-1.1306	0.01754	T	0.045	0.19437	T	10	0.14974675	0.28334	T	0.008859	0.23366	T	0.043	0.11576	0.268	0.21576	0.481781477641	0.47810	0.18678258590997882	0.18596	0.0423657159161	0.04565	0.266589224339	0.05700	T	0.313786	0.68551	T	-0.262419	0.12619	T	-0.614723	0.11605	T	0.222624272108078	0.21594	T	0.70043	0.32487	T	0.046991285	0.07958	0.06824981	0.14226	0.046991285	0.07958	0.06824981	0.14226	-4.917	0.36082	T	.	.	0.081	0.08224	B	.;.;.;.;.	.;.;.;.;.	1.151373	0.15394	11.82	0.95579283886560129	0.27282	0.66018	0.32934	D	AEFGBCI	0.085154	0.17261	N	-0.369880657475236	0.26547	1.44972	-0.47969438963112	0.22713	1.235077	0.872414120066062	0.25445	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.78	3.59	0.40253	1.427000	0.34489	.	.	0.756000	0.94297	0.011000	0.18532	0.073000	0.22253	0.551000	0.30197	0.8527:0.0:0.0:0.1473	10.365	0.43200	806	0.43582	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1520.44	33	chr2	151463112	.	A	G	1520.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.814;DP=342;ExcessHet=0;FS=6.873;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.527;SOR=1.217	GT:AD:DP:GQ:PL	0/1:94,71:165:99:1531,0,2346	6	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	.	.	.	.	.	.	.	.	0.2	163.08	99	chr2	157321525	.	C	G	163.08	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.132;DP=598;ExcessHet=0.3476;FS=496.34;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.608;SOR=9.401	GT:AD:DP:GQ:PL	0/1:104,54:166:99:133,0,1755	3	0	2	2
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G,ACVR1:NM_001111067:exon3:c.C44G:p.A15G,ACVR1:NM_001347663:exon3:c.C44G:p.A15G,ACVR1:NM_001347664:exon4:c.C44G:p.A15G,ACVR1:NM_001347665:exon4:c.C44G:p.A15G,ACVR1:NM_001347666:exon4:c.C44G:p.A15G,ACVR1:NM_001347667:exon4:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	6	1446	65	5	0	75	0.0252781	.	.	.	250305	not_provided|not_specified|Progressive_myositis_ossificans	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	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	0	0	0	0	0	1	0	0.020141	0.000000	0.009511	0.008772	0.000000	0.025862	0.021341	0.075758	0.08333	607.27	35	chr2	157799450	.	G	C	607.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.507;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.088;SOR=0.646	GT:AD:DP:GQ:PL	0/1:32,27:59:99:617,0,732	5	0	1	1
chr2	159350063	159350063	C	T	exonic	BAZ2B	.	nonsynonymous SNV	BAZ2B:NM_001289975:exon27:c.G4400A:p.S1467N,BAZ2B:NM_001329857:exon28:c.G4346A:p.S1449N,BAZ2B:NM_001329858:exon28:c.G4433A:p.S1478N,BAZ2B:NM_013450:exon28:c.G4508A:p.S1503N	.	431	977	111	3	0	117	0.0564944	.	.	.	719335	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0019	0.00738818	0.0080	0.0003	0.0025	0.0002	0	0.0028	0.0167	0.0440	0.0069145	1069	154602	rs143966878	0.0045	0.0045	0.0029	0.0060	0.0460	0.0044	0.0043	0.0448	0.0443	0.0002	0.0023	0.0039	0.0001	7.488e-05	0.0279	0.0017	0.0054	0.0460	0.0030	0.0030	0.0023	0.0037	0.0456	0.0028	0.0027	0.0407	0.0388	0.0004	0	0.0031	0.0046	0.0002	9.418e-05	0.0136	0.0021	0.0052	0.0456	0.327	0.13262	T	0.439	0.13365	T	0.0	0.12183	B	0.001	0.06944	B	0.114738	0.19263	U	0.365080	0.994617	0.23480	N	1.01	0.25309	L	3.27	0.06602	T	-0.06	0.07882	N	0.109	0.09490	-0.9856	0.33687	T	0.010	0.03765	T	10	0.0018053651	0.00024	T	.	.	.	0.084	0.24469	.	.	0.15499578495	0.15088	0.2681369963440382	0.26726	0.0366816850506	0.03882	0.305863142014	0.11283	T	0.01094	0.09820	T	-0.687278	0.00043	T	-0.726423	0.04491	T	0.00321575579987019	0.00034	T	0.846915	0.52723	T	0.039753538	0.05547	0.044830933	0.05896	0.039753538	0.05546	0.044830933	0.05896	-3.934	0.22948	T	.	.	0.076	0.05890	B	.;.	.;.	2.952919	0.39297	20.9	0.91316774009537693	0.20578	0.71095	0.34867	D	AEFDGBCI	0.086729	0.17585	N	-0.306285464823662	0.28908	1.598527	-0.0733311059405021	0.36497	2.124746	0.999999826993591	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.99	0.65942	1.077000	0.30353	2.750000	0.34528	0.599000	0.40250	0.972000	0.34453	0.782000	0.26788	0.944000	0.48669	0.0:0.6678:0.1496:0.1827	6.597	0.21871	550	0.72197	.;.	.	.	.	.	.	Likely benign	0	0	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	0.016616	0.000000	0.016304	0.014620	0.000000	0.008621	0.009146	0.049242	0.1429	5598.24	41	chr2	159350063	.	C	T	5598.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.861;DP=623;ExcessHet=0.3476;FS=0.529;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.271;SOR=0.764	GT:AD:DP:GQ:PL	0/1:103,105:208:99:2744,0,2562	5	0	2	0
chr2	166226650	166226650	C	T	exonic	SCN9A	.	nonsynonymous SNV	SCN9A:NM_001365536:exon24:c.G4315A:p.V1439I,SCN9A:NM_002977:exon24:c.G4282A:p.V1428I	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	37	1465	19	1	0	21	0.00711623	.	.	.	272066	Small_fiber_neuropathy|Paroxysmal_extreme_pain_disorder|not_specified|not_provided|Inborn_genetic_diseases|Primary_erythromelalgia|Channelopathy-associated_congenital_insensitivity_to_pain,_autosomal_recessive|Generalized_epilepsy_with_febrile_seizures_plus,_type_7|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A	MONDO:MONDO:0800207,MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orphanet:46348|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020,Orphanet:306577,Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Orphanet:88642,Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.340	0.0263080013834	0.0006	0.000998403	0.0023	0.0002	0.0006	0	0	0.0029	0.0018	0.0041	0.0012354	191	154602	rs149346064	0.0010	0.0010	0.0008	0.0011	0.0121	0.0009	0.0009	0.0098	0.0089	0.0001	0.0006	0.0195	0.0002	3.798e-05	0.0121	0.0004	0.0019	0.0031	0.0011	0.0011	0.0011	0.0011	0.0037	0.0010	0.0009	0.0024	0.0020	0.0002	0	0.0007	0.0213	0.0002	0	0.0102	0.0006	0.0033	0.0037	1.0	0.68238	T	1.0	0.01155	T	.	.	.	.	.	.	0.000047	0.53742	N	0.067864	0.99991	0.20333	N	-0.875	0.01443	N	-4.89	0.98525	D	0.37	0.24898	N	0.285	0.33140	-0.1360	0.79261	T	0.637	0.87309	D	10	0.010564268	0.00235	T	0.026308	0.49226	D	0.340	0.66202	.	.	0.344483371355	0.34058	0.3135336108123332	0.31266	0.092802932358	0.10482	0.554708898067	0.46521	T	0.426386	0.77620	T	-0.238501	0.15540	T	-0.118732	0.61906	T	0.00445046772305555	0.00048	T	0.319468	0.06419	T	0.05783055	0.11560	0.05226094	0.08575	0.056004915	0.10961	0.040498007	0.04389	-1.806	0.02551	T	0.061366912713807786	0.01748	0.054	0.05317	B	.;.;.;.;.;.	.;.;.;.;.;.	1.796180	0.22833	15.78	0.60049487544194091	0.06369	0.29948	0.23955	N	AEFI	0.111530	0.22079	N	-0.862968006315534	0.11732	0.5678155	-0.565929292937845	0.20383	1.097976	0.225337927204458	0.18403	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.46	4.3	0.50540	1.430000	0.34522	0.944000	0.22874	-0.796000	0.03208	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.2978:0.0:0.7022	6.375	0.20705	289	0.88525	.;Ion transport domain;.;Ion transport domain;Ion transport 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	0.003528	0.000000	0.006793	0.005882	0.000000	0.008621	0.000000	0.000000	0.07143	1285.44	34	chr2	166226650	.	C	T	1285.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.222;DP=294;ExcessHet=0;FS=4.726;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.557;SOR=0.563	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1296,0,1063	6	0	1	0
chr2	169176579	169176579	G	A	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon54:c.C10403T:p.P3468L	Donnai-Barrow syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	284981	Donnai-Barrow_syndrome|not_provided|not_specified	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.638	.	0.0083	0.00838658	0.0023	0.0229	0.0013	0	0	0.0003	0.0022	6.064e-05	0.0022315	345	154602	rs143367996	0.0009	0.0009	0.0010	0.0008	0.0234	0.0009	0.0008	0.0221	0.0215	0.0234	0.0021	0.0016	0	0	0.0031	0.0002	0.0023	1.159e-05	0.0068	0.0068	0.0068	0.0068	0.0222	0.0065	0.0063	0.0211	0.0206	0.0222	0	0.0051	0.0020	0	0	0	0.0003	0.0047	0	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	N	0.051885	1	0.81001	D	2.87	0.83286	M	-2.88	0.91533	D	-9.59	0.98518	D	0.511	0.54234	0.410	0.89246	D	0.653	0.87935	D	10	0.013441622	0.00285	T	.	.	.	0.638	0.86181	.	.	0.753637362212	0.75140	0.7350453244680187	0.73449	0.397400957687	0.40830	0.640598416328	0.58649	T	0.454	0.79348	T	-0.215233	0.18649	T	-0.06302	0.66121	T	0.098560745446504	0.12198	T	0.955004	0.82846	D	0.72298986	0.79328	0.62512904	0.78150	0.77447104	0.82318	0.6009543	0.76817	-7.491	0.57547	T	0.4589954508175662	0.54149	0.203	0.42735	B	.;.	.;.	3.845395	0.55667	23.6	0.99880436303772868	0.95653	0.98758	0.86475	D	AEFBI	0.926888	0.90870	D	0.69066914088481	0.79022	6.990556	0.659267841612218	0.79303	7.053905	0.999994404479247	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.86	4.99	0.65942	8.148000	0.89561	9.939000	0.82641	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0693:0.0:0.9307:0.0	14.724	0.68945	899	0.25060	EGF-like domain;EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.010101	0.010870	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	1333.63	45	chr2	169176579	.	G	A	1333.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.3;DP=363;ExcessHet=0;FS=7.818;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.678;SOR=1.299	GT:AD:DP:GQ:PL	0/1:99,54:153:99:1344,0,2313	6	0	1	0
chr2	170519453	170519453	T	C	exonic	MYO3B	.	nonsynonymous SNV	MYO3B:NM_001083615:exon29:c.T3407C:p.V1136A,MYO3B:NM_138995:exon30:c.T3488C:p.V1163A	.	.	.	.	.	.	.	.	.	.	.	3329254	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.0195495175955	.	0.000199681	4.997e-05	0	0	0	0	4.512e-05	0	0.0002	4.53e-05	7	154602	rs187423481	3.763e-05	3.831e-05	2.723e-05	4.814e-05	0.0004	2.96e-05	2.656e-05	0.0003	0.0002	0	2.236e-05	0	0	0	0.0002	1.979e-05	0	0.0004	3.945e-05	3.938e-05	2.572e-05	5.381e-05	0.0002	1.716e-05	1.13e-05	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.353e-05	0	0.0002	0.796	0.04417	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.025307	0.01627	U	2.832850	1	0.08975	N	-0.345	0.03330	N	-1.04	0.77466	T	-0.62	0.22727	N	0.079	0.05414	-0.9576	0.39626	T	0.174	0.51658	T	10	0.035849035	0.01854	T	0.01955	0.41941	T	0.109	0.30843	.	.	0.386721274199	0.38283	0.2021045555876482	0.20127	0.0891482225439	0.10076	0.24148324132	0.02925	T	0.018427	0.14860	T	-0.460675	0.00974	T	-0.603312	0.12534	T	0.0262950101832226	0.01445	T	0.210779	0.03235	T	0.028700884	0.02247	0.026615452	0.00760	0.028700884	0.02247	0.026615452	0.00760	-3.07	0.10954	T	.	.	0.084	0.09917	B	.;.	.;.	-0.462446	0.01991	0.175	0.4689628433219869	0.03792	0.01225	0.04340	N	AEFBI	0.036841	0.04973	N	-1.54763097249432	0.01548	0.06763566	-1.57277398420015	0.01824	0.08307152	0.00104125636039715	0.08159	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.46	-2.21	0.06581	0.008000	0.13095	0.778000	0.21455	-0.906000	0.02296	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1887:0.3411:0.0:0.4702	3.15	0.06095	294	0.88270	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	930.49	35	chr2	170519453	.	T	C	930.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.46;DP=283;ExcessHet=0;FS=2.586;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.118;SOR=0.443	GT:AD:DP:GQ:PL	0/1:60,46:106:99:941,0,1462	6	0	1	0
chr2	171434679	171434679	C	T	exonic	DCAF17;METTL8	.	startloss	METTL8:NM_001321157:exon1:c.G3A:p.M1?,METTL8:NM_001321158:exon1:c.G3A:p.M1?,METTL8:NM_001321161:exon1:c.G3A:p.M1?	.	2	1518	2	0	0	2	0.000658328	.	.	.	2134296	Woodhouse-Sakati_syndrome	MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0030	0	0	0	0	0	0.0083	0.0050	0.0003687	57	154602	rs369447743	0.0002	0.0002	0.0001	0.0003	0.0039	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0	5.614e-06	0.0002	0.0039	0.0001	0.0001	5.143e-05	0.0002	0.0031	6.51e-05	5.321e-05	0.0019	0.0015	2.407e-05	0	0	0	0	0	0	0	0	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	251.49	23	chr2	171434679	.	C	T	251.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.841;DP=153;ExcessHet=0;FS=1.52;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-2.209;SOR=1.123	GT:AD:DP:GQ:PL	0/1:16,12:28:99:262,0,416	6	0	1	0
chr2	172489575	172489575	C	A	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_000210:exon20:c.C2596A:p.L866I,ITGA6:NM_001079818:exon20:c.C2596A:p.L866I,ITGA6:NM_001316306:exon20:c.C2239A:p.L747I,ITGA6:NM_001365529:exon20:c.C2596A:p.L866I,ITGA6:NM_001365530:exon20:c.C2596A:p.L866I	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.173525521881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.035	0.86516	M	-0.35	0.68616	T	-1.74	0.42575	N	0.695	0.74189	0.315	0.87800	D	0.578	0.84814	D	10	0.8898805	0.88327	D	0.173526	0.85019	D	0.534	0.80426	0.801	0.92017	0.735039906021	0.73267	0.6486373299748902	0.64799	1.05880365382	0.76406	0.390574336052	0.23751	T	0.240306	0.60861	T	0.194896	0.73415	D	0.0421777	0.73069	D	0.949669599533081	0.63164	D	0.937106	0.78847	D	0.61092716	0.73277	0.57173496	0.75198	0.61092716	0.73279	0.57173496	0.75199	-10.779	0.80861	D	.	.	0.417	0.66299	A	.;.;.;.;.	.;.;.;.;.	4.639073	0.73833	26.1	0.99651765157689032	0.77317	0.98255	0.80978	D	AEFBI	0.689292	0.65001	D	0.839147576965485	0.88482	9.594867	0.777740848052162	0.88208	9.496279	0.999999734878497	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	4.713000	0.61585	7.642000	0.63248	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.108	0.93289	764	0.49969	.;.;Integrin alpha-2;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	544.45	34	chr2	172489575	.	C	A	544.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.215;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=0.196;SOR=0.77	GT:AD:DP:GQ:PL	0/1:40,25:65:99:555,0,967	6	0	1	0
chr2	178745844	178745844	C	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.G16556T:p.G5519V	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0170954856502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.191	0.28391	T	0.023	0.18885	B	0.022	0.19653	B	.	.	.	.	0.965781	0.81001	D	.	.	.	-0.17	0.65563	T	-0.78	0.21644	N	0.682	0.68863	-0.9685	0.37510	T	0.105	0.38562	T	9	0.39360923	0.55068	T	0.017095	0.38659	T	0.118	0.32913	0.504	0.59770	0.634143885914	0.63114	.	.	.	.	.	.	.	.	.	.	-0.0787177	0.39923	T	-0.350849	0.39107	T	0.121272059203456	0.14553	T	0.467153	0.13745	T	.	.	.	.	.	.	.	.	-3.42	0.15327	T	.	.	.	.	.	.	.	2.510222	0.32421	19.04	0.97286082765280957	0.33209	0.75702	0.37079	D	AEFBI	0.343526	0.43931	N	-0.174707414006874	0.34190	1.94854	0.0518444604302602	0.42162	2.545341	0.999617665870568	0.40981	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.94	5.05	0.67566	1.650000	0.36908	.	.	0.599000	0.40250	0.921000	0.31989	0.998000	0.33993	0.885000	0.42453	0.2437:0.4972:0.174:0.085	3.347	0.06721	341	0.85936	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1862.44	35	chr2	178745844	.	C	A	1862.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.94;DP=328;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-1.069;SOR=0.673	GT:AD:DP:GQ:PL	0/1:75,68:143:99:1873,0,1867	6	0	1	0
chr2	178776739	178776739	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.C4987G:p.L1663V,TTN:NM_133432:exon27:c.C4987G:p.L1663V,TTN:NM_133437:exon27:c.C4987G:p.L1663V,TTN:NM_001256850:exon28:c.C5125G:p.L1709V,TTN:NM_001267550:exon28:c.C5125G:p.L1709V,TTN:NM_133378:exon28:c.C5125G:p.L1709V,TTN:NM_133379:exon28:c.C5125G:p.L1709V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0147726489888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.56456	D	0.0	0.92824	D	0.999	0.90584	D	0.998	0.88582	D	.	.	.	.	0.989898	0.41045	D	.	.	.	-0.66	0.72348	T	-2.23	0.58896	N	0.345	0.64052	0.020	0.82663	D	0.536	0.82820	D	9	0.36435875	0.52983	T	0.014773	0.35101	T	0.414	0.72479	0.465	0.53566	0.662473173981	0.65964	.	.	0.465770963553	0.46000	0.717854857445	0.69733	T	.	.	.	-0.0103844	0.50212	T	-0.252693	0.49552	T	0.333222288417017	0.26354	T	0.916808	0.71149	D	.	.	.	.	.	.	.	.	-8.213	0.66927	D	.	.	0.608	0.69190	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.539940	0.49714	22.8	0.88723039728343223	0.18203	0.98108	0.79665	D	AEFBI	0.903450	0.85255	D	0.794725804563912	0.85775	8.677712	0.768167274864971	0.87509	9.246127	0.999999279517527	0.74766	0.516011	0.20929	0	0.546412	0.12157	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.34	5.34	0.75982	6.709000	0.74487	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	19.049	0.93018	345	0.85689	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	122.72	34	chr2	178776739	.	G	C	122.72	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.384;DP=441;ExcessHet=1.383;FS=157.805;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=1.69;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,19:98:39:.:.:39,0,1841:.	3	0	3	1
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	384.26	23	chr2	186504215	.	G	C	384.26	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0.85;DP=183;ExcessHet=4.1913;FS=59.582;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.43;ReadPosRankSum=1.3;SOR=6.375	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,5:30:21:0|1:186504214_G_C:21,0,631:186504214	1	0	4	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	.	.	.	.	.	.	.	.	0.5	722.27	43	chr2	197523648	.	T	C	722.27	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.41;DP=335;ExcessHet=11.5949;FS=543.859;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=1.46;SOR=9.507	GT:AD:DP:GQ:PL	0/1:33,21:54:99:180,0,409	0	0	6	1
chr2	199819716	199819716	C	T	exonic	FTCDNL1	.	nonsynonymous SNV	FTCDNL1:NM_001350853:exon4:c.G253A:p.V85M,FTCDNL1:NM_001363886:exon4:c.G253A:p.V85M	.	430	1038	52	2	0	56	0.0262664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00758786	0.0224	0	0	0	.	0.0272	0	0.0223	0.0026908	416	154602	rs61751881	0.0077	0.0067	0.0063	0.0088	0.0243	0.0075	0.0074	0.0233	0.0229	0.0007	0.0018	0.0363	0	0.0004	0.0147	0.0049	0.0085	0.0243	0.0044	0.0045	0.0040	0.0049	0.0253	0.0042	0.0041	0.0216	0.0202	0.0008	0.0044	0.0031	0.0360	0.0004	0.0004	0.0204	0.0047	0.0066	0.0253	0.039	0.42487	D	0.156	0.32675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.58	0.81987	D	-1.31	0.32791	N	0.114	0.10198	.	.	.	.	.	.	.	0.005957812	0.00134	T	.	.	.	.	.	.	.	.	.	0.41017121169101334	0.40933	.	.	0.414369285107	0.27061	T	0.413499	0.76734	T	-0.373465	0.03422	T	-0.290309	0.45740	T	.	.	.	0.741226	0.36032	T	0.044206727	0.07027	0.17805137	0.40449	0.044206727	0.07027	0.17805137	0.40448	-5.733	0.43986	T	.	.	0.155	0.34339	B	.;.	.;.	0.792175	0.11628	8.213	0.93346543586921327	0.23079	0.06193	0.12178	N	AEFDBI	0.079815	0.16128	N	.	.	.	.	.	.	0.972067605232243	0.29339	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	4.59	2.77	0.31614	0.256000	0.18120	-1.824000	0.04659	0.542000	0.25261	0.120000	0.23175	0.000000	0.08366	0.029000	0.12982	0.0:0.6286:0.1793:0.192	4.77	0.12523	648	0.63242	Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain;Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	716.63	37	chr2	199819716	.	C	T	716.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.62;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.009;SOR=0.628	GT:AD:DP:GQ:PL	0/1:29,25:54:99:727,0,653	6	0	1	0
chr2	201487640	201487640	C	T	exonic	C2CD6	.	nonsynonymous SNV	C2CD6:NM_152525:exon15:c.G1844A:p.R615Q,C2CD6:NM_001168221:exon16:c.G5435A:p.R1812Q	.	447	1042	31	2	0	35	0.0165172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0015	0.00319489	0.0022	0.0004	0.0003	0	0	0.0011	0.0044	0.0110	0.0019017	294	154602	rs34138250	0.0016	0.0016	0.0013	0.0020	0.0103	0.0016	0.0016	0.0097	0.0095	0.0003	0.0005	0.0007	2.525e-05	0	0.0077	0.0012	0.0020	0.0103	0.0012	0.0012	0.0009	0.0014	0.0141	0.0010	0.0010	0.0114	0.0104	0.0002	0	0.0007	0.0006	0	0	0.0102	0.0012	0.0014	0.0141	0.102	0.54683	T	0.33	0.42086	T	0.102	0.25827	B	0.037	0.23121	B	0.229612	0.03510	N	1.671310	1	0.08975	N	.	.	.	2.21	0.18414	T	-0.45	0.39503	N	0.097	0.22614	-0.9469	0.41498	T	0.031	0.13330	T	10	0.0040267706	0.00078	T	.	.	.	0.040	0.10527	.	.	0.0482279557977	0.04254	0.03339065480525237	0.03287	0.157486115895	0.17784	0.201904803514	0.00514	T	0.004516	0.03917	T	-0.719694	0.00028	T	-0.798605	0.01937	T	0.00210917860427071	0.00022	T	0.490951	0.15096	T	0.03175805	0.03073	0.057546932	0.10480	0.03175805	0.03073	0.057546932	0.10479	-3.449	0.16028	T	.	.	0.084	0.20857	B	.;.	.;.	-0.457584	0.02008	0.178	0.88441094531263342	0.17979	0.00373	0.01896	N	AEFDI	0.030746	0.03155	N	-1.25311526517915	0.04258	0.1918527	-1.32396881221201	0.04123	0.1937782	5.41221700921752E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.93	-3.2	0.04838	-2.211000	0.01310	.	.	-1.712000	0.00741	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.261:0.0:0.739	10.857	0.46011	460	0.78750	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.000000	0.024390	0.011364	0.07143	763.44	34	chr2	201487640	.	C	T	763.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.73;DP=240;ExcessHet=0;FS=1.057;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.271;SOR=0.537	GT:AD:DP:GQ:PL	0/1:37,29:66:99:774,0,974	6	0	1	0
chr2	208001338	208001338	G	C	exonic	PLEKHM3	.	nonsynonymous SNV	PLEKHM3:NM_001080475:exon2:c.C302G:p.T101R	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.0306002694738	.	.	0.0001	0	8.655e-05	0	0	0	0	0.0008	9.06e-05	14	154602	rs769020807	5.062e-05	5.062e-05	2.042e-05	8.113e-05	0.0008	4.125e-05	3.778e-05	0.0007	0.0006	0	0	0	0	0	0	0	1.656e-05	0.0008	2.628e-05	2.626e-05	0	5.379e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.022	0.63226	D	0.178	0.29639	T	0.954	0.65571	P	0.726	0.55126	P	0.000260	0.46924	D	0.141721	0.992537	0.41672	D	0.975	0.24501	L	-1.78	0.84047	D	-1.19	0.36787	N	0.47	0.50598	0.152	0.85090	D	0.534	0.82728	D	10	0.11745027	0.22181	T	0.031	0.52874	D	0.468	0.76289	0.309	0.28128	0.500921690253	0.49727	0.3415314045824439	0.34066	0.28602195282	0.31010	0.531759917736	0.43283	T	0.011199	0.10021	T	-0.15218	0.27970	T	-0.0731554	0.65400	T	0.207968454464426	0.20847	T	.	.	.	0.18311903	0.39564	0.20095709	0.44052	0.18311903	0.39564	0.20095709	0.44051	-3.336	0.14206	T	.	.	0.079	0.14477	B	.;.	.;.	2.884207	0.38179	20.7	0.99021265990978269	0.50591	0.95984	0.67010	D	AEFDBI	0.452057	0.50577	N	0.52871154290749	0.68797	5.266628	0.575437194691669	0.73183	5.929053	0.999964525443907	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.56	4.67	0.58089	5.413000	0.66140	4.524000	0.43698	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0699:0.0:0.9301:0.0	15.396	0.74519	797	0.45241	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1773.45	34	chr2	208001338	.	G	C	1773.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.09;DP=336;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.409;SOR=0.746	GT:AD:DP:GQ:PL	0/1:80,69:149:99:1784,0,2005	6	0	1	0
chr2	215397209	215397209	T	C	exonic	FN1	.	nonsynonymous SNV	FN1:NM_001306129:exon23:c.A3532G:p.T1178A,FN1:NM_001306130:exon23:c.A3532G:p.T1178A,FN1:NM_001306131:exon23:c.A3532G:p.T1178A,FN1:NM_001306132:exon23:c.A3532G:p.T1178A,FN1:NM_001365517:exon23:c.A3532G:p.T1178A,FN1:NM_001365518:exon23:c.A3532G:p.T1178A,FN1:NM_001365519:exon23:c.A3532G:p.T1178A,FN1:NM_001365520:exon23:c.A3532G:p.T1178A,FN1:NM_001365521:exon23:c.A3532G:p.T1178A,FN1:NM_001365522:exon23:c.A3532G:p.T1178A,FN1:NM_001365523:exon23:c.A3532G:p.T1178A,FN1:NM_001365524:exon23:c.A3532G:p.T1178A,FN1:NM_002026:exon23:c.A3532G:p.T1178A,FN1:NM_212474:exon23:c.A3532G:p.T1178A,FN1:NM_212476:exon23:c.A3532G:p.T1178A,FN1:NM_212478:exon23:c.A3532G:p.T1178A,FN1:NM_212482:exon23:c.A3532G:p.T1178A	Glomerulopathy with fibronectin deposits 2, Autosomal dominant;Plasma fibronectin deficiency, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	1546300	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.116	0.0352946630425	.	0.00139776	0.0007	0	0	0	0	7.497e-05	0.0011	0.0048	0.0005951	92	154602	rs543350920	0.0003	0.0003	0.0002	0.0004	0.0047	0.0003	0.0003	0.0043	0.0041	8.969e-05	0	0.0008	0	0	0.0003	5.4e-06	0.0005	0.0047	0.0002	0.0002	0.0001	0.0002	0.0048	0.0001	9.697e-05	0.0033	0.0028	0	0	0	0.0003	0	0	0	0	0.0005	0.0048	0.01	0.56456	D	0.027	0.55341	D	0.031	0.67487	B	0.039	0.83170	B	0.000613	0.42945	N	0.159094	0.999998	0.58761	D	2.84	0.82582	M	0.35	0.58029	T	-2.48	0.54059	N	0.125	0.24385	-0.5641	0.66247	T	0.284	0.65567	T	10	0.009646863	0.00217	T	0.035295	0.56251	D	0.116	0.32463	0.46	0.52753	0.745431911984	0.74313	0.5865410777701819	0.58584	0.256833766048	0.28250	0.41134673357	0.26643	T	0.471222	0.80401	T	-0.409472	0.02004	T	-0.360277	0.38021	T	0.156628793538937	0.17619	T	0.815218	0.46991	T	0.21925972	0.44453	0.22592753	0.47554	0.26463044	0.49530	0.1895582	0.42308	-6.678	0.52462	T	0.6587025842751055	0.73186	0.096	0.15564	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.725076	0.53253	23.3	0.99078205288202637	0.51906	0.94287	0.60687	D	AEFBCIJ	0.779178	0.71145	D	0.0493520369690444	0.44112	2.691295	0.119035001542762	0.45524	2.813956	0.999999911621811	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.62	3.23	0.36150	3.709000	0.54582	2.920000	0.35558	0.609000	0.47794	1.000000	0.71638	0.999000	0.35428	0.988000	0.63387	0.0:0.139:0.0:0.861	10.399	0.43402	787	0.46738	.;.;.;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	367.44	34	chr2	215397209	.	T	C	367.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.33;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=0.008;SOR=0.606	GT:AD:DP:GQ:PL	0/1:47,16:63:99:378,0,1199	6	0	1	0
chr2	218690458	218690458	T	C	exonic	STK36	.	nonsynonymous SNV	STK36:NM_001243313:exon14:c.T1667C:p.V556A,STK36:NM_001369423:exon14:c.T1667C:p.V556A,STK36:NM_015690:exon14:c.T1667C:p.V556A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0151472342882	.	0.000199681	0.0004	0	0	0	0	0	0	0.0026	0.0002846	44	154602	rs565881369	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0002	0.0021	0.0020	0	0	0	0	0	0	4.767e-05	4.967e-05	0.0024	2.63e-05	2.626e-05	1.286e-05	4.035e-05	0.0006	8.15e-06	5.14e-06	0.0002	9.036e-05	0	0	0	0	0	0	0	1.471e-05	0	0.0006	0.755	0.03598	T	0.818	0.03933	T	0.001	0.07471	B	0.001	0.10090	B	0.000971	0.40836	D	0.000000	0.842909	0.28605	N	2.135	0.59519	M	-0.25	0.67011	T	-0.43	0.18459	N	0.174	0.22742	-0.9841	0.34045	T	0.138	0.45602	T	10	0.008930445	0.00202	T	0.015147	0.35714	T	0.278	0.59497	0.308	0.27967	0.686422888518	0.68374	0.17327826884215594	0.17247	0.24329210555	0.26834	0.497947275639	0.38542	T	0.116175	0.43533	T	-0.224372	0.17401	T	-0.100619	0.63350	T	0.0427954551005298	0.04199	T	0.669833	0.27843	T	0.035314664	0.04132	0.055995673	0.09925	0.035314664	0.04132	0.055995673	0.09924	-2.702	0.07337	T	.	.	0.166	0.39697	B	.;.;.	.;.;.	2.581614	0.33471	19.35	0.53189752322586625	0.04891	0.75040	0.36725	D	AEFBI	0.068644	0.13552	N	-0.368729391521783	0.26589	1.452302	-0.192960075190217	0.31794	1.802681	0.895917805589442	0.25965	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.14	5.14	0.70008	1.523000	0.35538	6.120000	0.53774	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.917000	0.45243	0.0:0.1021:0.0:0.8979	6.964	0.23793	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	.	.	.	.	.	.	.	.	0.07143	865.53	34	chr2	218690458	.	T	C	865.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.298;DP=245;ExcessHet=0;FS=10.732;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.813;SOR=0.248	GT:AD:DP:GQ:PL	0/1:32,37:69:99:876,0,827	6	0	1	0
chr2	219217782	219217782	C	T	exonic	ABCB6	.	nonsynonymous SNV	ABCB6:NM_005689:exon2:c.G575A:p.R192Q	Dyschromatosis universalis hereditaria 3, Autosomal dominant;Microphthalmia, isolated, with coloboma 7, Autosomal dominant;Pseudohyperkalemia, familial, 2, due to red cell leak, Autosomal dominant	0	1506	16	0	0	16	0.00528402	.	.	.	79365	Acute_intermittent_porphyria|Microphthalmia,_isolated,_with_coloboma_7|Protoporphyria,_erythropoietic,_1|not_provided|Variegate_porphyria|ABCB6-related_disorder	MONDO:MONDO:0008294,MedGen:C0162565,OMIM:176000,Orphanet:79276|MONDO:MONDO:0013783,MedGen:C3281027,OMIM:614497,Orphanet:98938|MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278|MedGen:C3661900|MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.139	0.205414109906	0.0030	0.000998403	0.0034	0.0005	0.0040	0	0.0015	0.0051	0.0055	0.0007	0.0034152	528	154602	rs150221689	0.0038	0.0038	0.0038	0.0037	0.0094	0.0037	0.0036	0.0074	0.0067	0.0005	0.0042	0.0076	2.519e-05	0.0022	0.0094	0.0041	0.0042	0.0009	0.0030	0.0030	0.0033	0.0027	0.0045	0.0028	0.0027	0.0041	0.0040	0.0008	0.0077	0.0032	0.0063	0	0.0021	0.0068	0.0045	0.0033	0.0012	0.006	0.61437	D	0.017	0.60337	D	0.985	0.61118	D	0.696	0.54017	P	0.000001	0.62929	D	0.057394	1	0.81001	D	1.815	0.47718	L	-2.49	0.89145	D	-3.05	0.62976	D	0.775	0.77226	0.666	0.92742	D	0.773	0.92290	D	10	0.027407736	0.00887	T	0.205414	0.86984	D	0.722	0.90191	.	.	0.96779085308	0.96744	0.8460702411443091	0.84568	0.693723178477	0.60723	0.564349293709	0.47882	T	0.854923	0.96731	D	-0.0660143	0.41962	T	0.134733	0.79202	D	0.0409911184360875	0.03871	T	0.882412	0.60266	D	0.4106571	0.61463	0.37113625	0.62349	0.4414261	0.63495	0.4090872	0.65207	-9.639	0.71721	D	.	.	0.169	0.37140	B	.	.	4.613267	0.73176	25.9	0.99955817132644809	0.99975	0.99090	0.91078	D	ALL	0.879204	0.80500	D	0.742626518545521	0.82422	7.759003	0.746445318511869	0.85890	8.717776	1.0	0.98316	0.730579	0.87903	0	0.52208	0.09955	0	0.685571	0.62057	0	0.648885	0.59868	0	.	.	5.67	5.67	0.87673	5.420000	0.66180	4.823000	0.45134	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	20.117	0.97940	546	0.72524	Mitochondrial ABC-transporter, N-terminal five TM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.010870	0.005848	0.000000	0.000000	0.009146	0.003788	0.07143	901.44	36	chr2	219217782	.	C	T	901.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.198;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.559;SOR=0.693	GT:AD:DP:GQ:PL	0/1:34,43:77:99:912,0,750	6	0	1	0
chr2	219477404	219477404	C	T	exonic	SPEG	.	nonsynonymous SNV	SPEG:NM_005876:exon20:c.C4688T:p.A1563V	Centronuclear myopathy 5, Autosomal recessive	420	1097	5	0	0	5	0.00227376	.	.	.	733188	SPEG-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.314	0.0727206379598	0.0007	0.000798722	0.0024	0	0.0014	0	0.0018	0.0023	0.0063	0.0051	0.0011837	183	154602	rs150628707	0.0012	0.0012	0.0011	0.0013	0.0047	0.0012	0.0012	0.0043	0.0042	0.0002	0.0005	0	0	0.0014	0.0019	0.0011	0.0009	0.0047	0.0008	0.0008	0.0007	0.0009	0.0046	0.0007	0.0007	0.0031	0.0026	0.0002	0	0.0001	0	0	0.0009	0.0034	0.0011	0.0019	0.0046	0.026	0.46910	D	0.001	0.83351	D	0.999	0.77913	D	0.97	0.72226	D	0.235804	0.15820	N	0.461483	0.999986	0.54805	D	1.31	0.32734	L	-0.24	0.66834	T	-3.16	0.64246	D	0.61	0.62696	-0.3259	0.74254	T	0.375	0.73302	T	10	0.020133793	0.00459	T	0.072721	0.71605	D	0.314	0.63588	.	.	0.618067351671	0.61497	0.713056025828732	0.71247	1.57768350734	0.88340	0.675377070904	0.63606	T	0.37974	0.74243	T	-0.316552	0.07184	T	-0.22694	0.52067	T	0.0802258197684668	0.10016	T	0.944706	0.79020	D	0.2191015	0.44433	0.21015316	0.45390	0.2191015	0.44433	0.21015316	0.45389	-7.979	0.60927	D	.	.	0.308	0.53648	B	.	.	4.685689	0.75034	26.3	0.99883579525226074	0.95892	0.95357	0.64405	D	AEFGBHCI	0.606949	0.59710	D	0.54667028713492	0.69878	5.420215	0.567293301489994	0.72608	5.83691	0.999999999999947	0.74766	0.560101	0.30754	0	0.59043	0.45803	0	0.26897	0.05253	2	0.542086	0.14980	0	.	.	5.23	5.23	0.72570	4.919000	0.63082	5.979000	0.52135	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:1.0:0.0:0.0	18.841	0.92151	108	0.95573	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1263.49	37	chr2	219477404	.	C	T	1263.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.336;DP=297;ExcessHet=0;FS=2.992;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-1.322;SOR=0.412	GT:AD:DP:GQ:PL	0/1:37,49:86:99:1274,0,896	6	0	1	0
chr2	232381689	232381689	C	G	exonic	ALPP	.	nonsynonymous SNV	ALPP:NM_001632:exon11:c.C1502G:p.P501R	.	408	1104	8	2	0	12	0.00540541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.194341568806	.	.	0.0007	0.0016	0.0004	0.0003	0.0003	0.0007	0	0.0011	0.0006404	99	154602	rs2981374	0.0021	0.0040	0.0021	0.0021	0.0033	0.0020	0.0020	0.0021	0.0020	0.0018	0.0009	0.0062	0.0016	0.0011	0.0033	0.0021	0.0028	0.0017	0.0037	0.0050	0.0041	0.0033	0.0045	0.0034	0.0033	0.0040	0.0039	0.0032	0.0022	0.0023	0.0118	0.0010	0.0007	0.0071	0.0045	0.0058	0.0045	0.073	0.34800	T	0.097	0.39190	T	0.858	0.47274	P	0.187	0.36167	B	0.141761	0.18266	N	0.505114	1	0.08975	N	0	0.06538	N	-3.71	0.95387	D	-1.73	0.41046	N	0.187	0.20395	-0.1675	0.78488	T	0.602	0.85847	D	10	0.009569526	0.00216	T	0.194342	0.86357	D	0.228	0.52768	.	.	0.890016908248	0.88892	0.42774573701791496	0.42691	0.837879280182	0.67888	0.389126300812	0.23546	T	0.106381	0.41767	T	-0.304152	0.08274	T	-0.234297	0.51353	T	0.00860221500970257	0.00105	T	0.226077	0.02982	T	0.048716564	0.08536	0.12381717	0.29852	0.048716564	0.08535	0.12381717	0.29851	-4.381	0.29298	T	.	.	0.075	0.05535	B	.	.	2.151778	0.27411	17.45	0.97079356919285775	0.32272	0.25135	0.22607	N	ALL	0.094382	0.19083	N	-0.783685970697968	0.13735	0.6787938	-0.935044476847748	0.11271	0.5731606	0.982271854747345	0.30376	0.59774	0.34471	0	0.615948	0.52940	0	0.596394	0.31383	0	0.63947	0.58350	0	.	.	2.18	1.21	0.20240	0.807000	0.26800	0.017000	0.13531	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2176:0.5701:0.2123:0.0	5.993	0.18710	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	33.44	35	chr2	232381689	.	C	G	33.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.66;DP=282;ExcessHet=0;FS=16.94;MLEAC=1;MLEAF=0.071;MQ=53.92;MQRankSum=-5.067;QD=0.46;ReadPosRankSum=-2.685;SOR=3.875	GT:AD:DP:GQ:PL	0/1:65,8:73:44:44,0,1724	6	0	1	0
chr2	232381722	232381722	G	C	exonic	ALPP	.	nonsynonymous SNV	ALPP:NM_001632:exon11:c.G1535C:p.R512P	.	406	1110	5	1	0	7	0.00314324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.0127332440605	0.0005	.	0.0003	0.0016	0.0001	0.0008	0	4.736e-05	0	0.0004	0.0002911	45	154602	rs377067025	0.0005	0.0019	0.0004	0.0005	0.0019	0.0004	0.0004	0.0016	0.0014	0.0019	0.0004	0.0021	0.0019	0.0003	0.0017	0.0003	0.0006	0.0005	0.0020	0.0032	0.0022	0.0017	0.0025	0.0018	0.0017	0.0020	0.0019	0.0019	0	0.0009	0.0079	0.0010	0.0002	0.0068	0.0023	0.0033	0.0025	0.328	0.13219	T	0.283	0.21478	T	0.0	0.02946	B	0.0	0.01387	B	0.486674	0.05012	N	1.313690	1	0.08975	N	0	0.06538	N	-3.76	0.95561	D	1.07	0.01280	N	0.096	0.07673	-0.5907	0.65193	T	0.600	0.85740	D	10	0.004428774	0.00090	T	0.012733	0.31557	T	0.303	0.62400	.	.	0.622101920318	0.61903	0.5300166411934661	0.52925	0.91577893214	0.71236	0.432348459959	0.29530	T	0.040331	0.25493	T	-0.377759	0.03218	T	-0.328631	0.41621	T	0.0022733665266846	0.00024	T	0.225177	0.02943	T	0.09260563	0.21728	0.1150696	0.27778	0.09260563	0.21728	0.1150696	0.27778	-1.913	0.02869	T	.	.	0.068	0.02829	B	.	.	0.295926	0.06720	3.228	0.47075973611670091	0.03821	0.01967	0.05961	N	AEFDBHCIJ	0.032395	0.03651	N	-2.56863680269495	0.00011	0.0004785188	-2.64759831422115	0.00010	0.0004641048	0.999988639229802	0.51787	0.59774	0.34471	0	0.615948	0.52940	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	1.63	-3.25	0.04765	-0.920000	0.04121	-1.501000	0.05297	-2.651000	0.00223	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1138:0.3839:0.2785:0.2239	2.720	0.04877	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	40.46	50	chr2	232381722	.	G	C	40.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.92;DP=279;ExcessHet=0;FS=9.813;MLEAC=1;MLEAF=0.071;MQ=56.87;MQRankSum=-6.858;QD=0.67;ReadPosRankSum=-2.891;SOR=1.465	GT:AD:DP:GQ:PL	0/1:53,7:60:51:51,0,1473	6	0	1	0
chr2	232381776	232381776	A	G	exonic	ALPP	.	nonsynonymous SNV	ALPP:NM_001632:exon11:c.A1589G:p.E530G	.	396	1108	17	1	0	19	0.00850112	.	.	.	2428015	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.260	0.0273154630792	.	.	9.994e-05	0	0.0002	0	0	0.0001	0	0.0001	0.0007684	20	26028	rs558432787	0.0010	0.0014	0.0010	0.0010	0.0033	0.0009	0.0009	0.0020	0.0016	0.0002	0.0004	0.0050	0	0.0007	0.0033	0.0009	0.0016	0.0011	0.0027	0.0030	0.0030	0.0024	0.0043	0.0025	0.0024	0.0039	0.0037	0.0005	0.0022	0.0012	0.0139	0	0.0006	0.0068	0.0043	0.0048	0.0025	0.393	0.10730	T	0.592	0.08161	T	0.0	0.02946	B	0.0	0.01387	B	0.000607	0.00648	N	4.191840	1	0.08975	N	0	0.06538	N	-3.78	0.95629	D	0.71	0.02130	N	0.122	0.11340	-0.1948	0.77805	T	0.589	0.85290	D	10	0.0056685805	0.00126	T	0.027315	0.50142	D	0.260	0.57221	.	.	0.673135118597	0.67036	0.5615378092151521	0.56080	0.746907957965	0.63572	0.399499356747	0.24999	T	0.049766	0.28402	T	-0.0852262	0.38860	T	-0.360198	0.38031	T	0.00183166179340333	0.00019	T	0.224178	0.02920	T	0.027119448	0.01859	0.042789508	0.05176	0.027119448	0.01859	0.042789508	0.05175	0.277	0.00264	T	.	.	0.064	0.01645	B	.	.	-0.156735	0.03319	0.578	0.46784723964666591	0.03774	0.02906	0.07704	N	AEFDBHCI	0.031334	0.03327	N	-1.83839477881042	0.00458	0.01970038	-1.87422729471738	0.00550	0.02439324	0.83672532226933	0.24792	0.59774	0.34471	0	0.615948	0.52940	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	1.6	-1.12	0.09306	-0.834000	0.04498	-3.987000	0.02410	-2.605000	0.00234	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4338:0.0:0.3179:0.2483	3.432	0.07004	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	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	0.002028	0.005263	0.001359	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	295.63	40	chr2	232381776	.	A	G	295.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.774;DP=233;ExcessHet=0;FS=15.974;MLEAC=1;MLEAF=0.071;MQ=57.1;MQRankSum=-4.13;QD=5.91;ReadPosRankSum=1.35;SOR=1.631	GT:AD:DP:GQ:PL	0/1:36,14:50:99:306,0,1013	6	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1679.91	78	chr2	232847517	.	A	*	1679.91	.	AC=5;AF=0.357;AN=14;DP=634;ExcessHet=1.4958;FS=1.793;MLEAC=5;MLEAF=0.357;MQ=60;QD=3.26;SOR=0.857	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,58:117:99:.:.:2176,0,2052:.	2	0	5	0
chr3	3845629	3845629	C	T	exonic	LRRN1	.	nonsynonymous SNV	LRRN1:NM_020873:exon2:c.C988T:p.R330C,LRRN1:NM_001324188:exon3:c.C988T:p.R330C,LRRN1:NM_001324189:exon3:c.C988T:p.R330C	.	437	1054	30	1	0	32	0.0149533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	0.0013	0.00179712	0.0025	9.656e-05	0.0013	0	0.0002	0.0014	0.0011	0.0115	0.0022251	344	154602	rs146290783	0.0016	0.0016	0.0012	0.0021	0.0132	0.0016	0.0015	0.0118	0.0116	0.0004	0.0015	0.0071	2.52e-05	1.872e-05	0.0132	0.0007	0.0025	0.0124	0.0011	0.0011	0.0009	0.0012	0.0098	0.0009	0.0009	0.0075	0.0068	4.817e-05	0	0.0012	0.0078	0	0	0.0068	0.0009	0.0028	0.0098	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.719	0.54822	P	0.000016	0.62929	D	0.142753	1	0.81001	D	3	0.85872	M	0.36	0.57880	T	-1.86	0.43524	N	0.599	0.61764	-0.2780	0.75595	T	0.329	0.69674	T	10	0.0065250695	0.00148	T	.	.	.	0.323	0.64522	.	.	0.303871581278	0.30001	0.6332127385484002	0.63255	0.630048219252	0.57008	0.684255063534	0.64880	T	0.051945	0.29022	T	-0.211766	0.19130	T	-0.0659324	0.65915	T	0.0829268058137253	0.10357	T	0.963804	0.86607	D	0.18769358	0.40235	0.16573796	0.38325	0.18769358	0.40235	0.16573796	0.38324	-8.874	0.66882	D	.	.	0.251	0.48521	B	.	.	4.966557	0.82161	27.7	0.99936106130912272	0.99621	0.96121	0.67629	D	AEFBI	0.844361	0.76133	D	0.750227868868542	0.82919	7.883445	0.733361059890418	0.84910	8.425782	0.999999313784303	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	4.782000	0.62089	4.920000	0.46033	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.592	0.95514	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.005435	0.011696	0.000000	0.000000	0.006098	0.015152	0.07143	2838.44	60	chr3	3845629	.	C	T	2838.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.06;DP=611;ExcessHet=0;FS=1.638;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.653;SOR=0.839	GT:AD:DP:GQ:PL	0/1:119,111:230:99:2849,0,2763	6	0	1	0
chr3	4813216	4813216	T	G	exonic	ITPR1	.	nonsynonymous SNV	ITPR1:NM_002222:exon53:c.T7354G:p.S2452A,ITPR1:NM_001099952:exon54:c.T7399G:p.S2467A,ITPR1:NM_001168272:exon56:c.T7498G:p.S2500A,ITPR1:NM_001378452:exon57:c.T7543G:p.S2515A	Gillespie syndrome;Spinocerebellar ataxia 15, Autosomal dominant;Spinocerebellar ataxia 29, congenital nonprogressive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3012875	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.218	0.0747147055553	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1042481772	2.056e-06	2.052e-06	1.363e-06	2.755e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.007e-07	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.667	0.08710	T	0.76	0.04772	T	0.025	0.19245	B	0.055	0.25995	B	0.020878	0.26948	N	0.382752	0.96516	0.25950	N	-0.105	0.04674	N	-2.72	0.97292	D	-0.16	0.28703	N	0.215	0.27910	-0.2456	0.76478	T	0.668	0.88504	D	10	0.05167252	0.05084	T	0.074715	0.72109	D	0.218	0.51265	0.232	0.16005	0.696260500471	0.69364	0.48026094347615556	0.47946	0.721800194197	0.62248	0.357034742832	0.18953	T	0.634984	0.88735	D	0.0698575	0.60833	D	-0.137431	0.60341	T	0.091284766793251	0.11369	T	0.626337	0.24237	T	0.0288755	0.02293	0.039334215	0.04004	0.0288755	0.02293	0.039334215	0.04003	-2.74	0.07706	T	0.08193581192038485	0.04281	0.069	0.03093	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.367398	0.30374	18.42	0.87424838804571359	0.17218	0.38613	0.26028	N	AEFDBCI	0.092152	0.18660	N	-0.753051844651921	0.14550	0.7257569	-0.579997023590807	0.20015	1.076466	0.999939154740957	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.02	3.85	0.43556	0.552000	0.23083	1.208000	0.24886	0.665000	0.62972	0.235000	0.24695	0.934000	0.28616	0.999000	0.91618	0.0:0.0876:0.0:0.9124	8.678	0.33353	922	0.19044	.;.;.;.;.;Ion transport domain;.;Ion transport 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	0.07143	1231.46	33	chr3	4813216	.	T	G	1231.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.034;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.049;SOR=0.683	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1242,0,1231	6	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	1660.79	141	chr3	15003967	.	C	G	1660.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-4.208;DP=1071;ExcessHet=6.1542;FS=258.487;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=1.42;SOR=10.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,47:226:99:0|1:15003967_C_G:225,0,5393:15003967	1	0	5	1
chr3	15251166	15251166	A	G	exonic	CAPN7	.	nonsynonymous SNV	CAPN7:NM_001376090:exon18:c.A2003G:p.N668S,CAPN7:NM_001376093:exon18:c.A1793G:p.N598S,CAPN7:NM_001376089:exon19:c.A2066G:p.N689S,CAPN7:NM_001376087:exon20:c.A2147G:p.N716S,CAPN7:NM_001376091:exon20:c.A1934G:p.N645S,CAPN7:NM_014296:exon21:c.A2348G:p.N783S,CAPN7:NM_001376086:exon22:c.A2216G:p.N739S	.	.	.	.	.	.	.	.	.	.	.	2362196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.391	0.0569461225839	7.7e-05	.	9.899e-05	0.0002	0	0	0	0.0001	0.0011	0	9.06e-05	14	154602	rs373259698	8.242e-05	8.346e-05	7.932e-05	8.556e-05	0.0002	7.03e-05	6.579e-05	8.159e-05	7.548e-05	6.009e-05	2.25e-05	0	0	0	0.0002	9.663e-05	4.985e-05	6.993e-05	9.856e-05	9.851e-05	0.0001	6.725e-05	0.0001	6.006e-05	4.88e-05	7.908e-05	5.994e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.247	0.17296	T	0.399	0.15059	T	0.709	0.42056	P	0.101	0.30765	B	0.000000	0.84330	D	0.041753	1	0.81001	D	2.325	0.66631	M	-2.16	0.86549	D	-1.93	0.44852	N	0.713	0.71587	-0.0443	0.81327	T	0.524	0.82268	D	10	0.6493766	0.69514	D	0.056946	0.66788	D	0.391	0.70684	.	.	0.901396340937	0.90041	0.5228167174739803	0.52204	0.241937108597	0.26711	0.62101316452	0.55872	T	0.283307	0.65606	T	-0.135829	0.30557	T	-0.177839	0.56722	T	0.0944887612072597	0.11740	T	0.90281	0.66017	D	0.37287647	0.58796	0.30566624	0.56593	0.37287647	0.58797	0.30566624	0.56592	-9.389	0.70166	D	.	.	0.124	0.26200	B	.	.	3.008251	0.40220	21.1	0.994392065540189	0.64670	0.99085	0.91004	D	AEFBI	0.880632	0.80742	D	0.378682180813403	0.60268	4.213964	0.492510555298228	0.67493	5.09136	0.999999991389932	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	6.04	6.04	0.98025	7.225000	0.77534	11.254000	0.90845	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.286	0.82547	547	0.72440	Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	1094.45	36	chr3	15251166	.	A	G	1094.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=286;ExcessHet=0;FS=0.732;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.272;SOR=0.78	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1105,0,1278	6	0	1	0
chr3	15489604	15489604	C	A	exonic	COLQ	.	nonsynonymous SNV	COLQ:NM_005677:exon2:c.G140T:p.G47V,COLQ:NM_080538:exon2:c.G110T:p.G37V,COLQ:NM_080539:exon2:c.G140T:p.G47V	Myasthenic syndrome, congenital, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1457307	Congenital_myasthenic_syndrome_5	MONDO:MONDO:0011281,MedGen:C1864233,OMIM:603034,Orphanet:590	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.170	0.127374125889	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411203931	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.25154	T	0.256	0.35082	T	0.151	0.30743	B	0.069	0.33818	B	0.431666	0.12740	N	0.762367	0.978029	0.39629	D	0.55	0.14455	N	-2.63	0.91589	D	-0.98	0.27052	N	0.26	0.32370	-0.4032	0.71926	T	0.505	0.81334	D	10	0.16991487	0.31624	T	0.127374	0.80917	D	0.170	0.43303	0.523	0.62668	0.878369242962	0.87717	0.38817837389586946	0.38732	0.543497612951	0.51426	0.264020681381	0.05379	T	0.221023	0.58447	T	-0.0509788	0.44299	T	-0.311004	0.43550	T	0.408693045377731	0.29269	T	0.816918	0.48098	T	0.06764247	0.14667	0.08669072	0.20101	0.06764247	0.14667	0.08669072	0.20101	-3.987	0.24861	T	.	.	0.078	0.16494	B	.;.;.;.;.	.;.;.;.;.	1.508083	0.19376	14.23	0.93647207538641186	0.23529	0.11702	0.16806	N	AEFBI	0.144843	0.26791	N	-0.565202997609552	0.20009	1.051669	-0.477221249603547	0.22782	1.239154	0.466461244909185	0.20669	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.31	3.44	0.38486	-0.014000	0.12594	-0.015000	0.13005	-0.218000	0.08083	0.016000	0.19238	0.001000	0.17328	0.023000	0.12082	0.0:0.7974:0.0:0.2026	7.865	0.28696	525	0.74024	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	748.49	29	chr3	15489604	.	C	A	748.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.414;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.044;SOR=0.704	GT:AD:DP:GQ:PL	0/1:41,33:74:99:759,0,1001	6	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	0.07143	964.46	33	chr3	19518018	.	G	C	964.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.427;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.505;SOR=0.752	GT:AD:DP:GQ:PL	0/1:40,39:79:99:975,0,973	6	0	1	0
chr3	25794138	25794138	A	C	exonic	OXSM	.	nonsynonymous SNV	OXSM:NM_017897:exon3:c.A1024C:p.I342L,OXSM:NM_001145391:exon4:c.A775C:p.I259L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0182339887754	.	.	2.478e-05	0	0	0	0	1.502e-05	0	0.0001	1.94e-05	3	154602	rs369371481	4.789e-05	4.857e-05	4.356e-05	5.226e-05	0.0002	3.86e-05	3.54e-05	0.0001	0.0001	5.974e-05	0	0	0	0	0	4.497e-05	1.656e-05	0.0002	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.064	0.36509	T	0.094	0.43344	T	0.005	0.17086	B	0.326	0.47360	B	0.000130	0.49741	D	0.207969	0.992709	0.41719	D	2.11	0.58565	M	.	.	.	-1.89	0.44852	N	0.264	0.46368	-0.6813	0.61312	T	0.232	0.59818	T	9	0.3269746	0.49987	T	0.018234	0.40224	T	0.116	0.32463	0.78	0.90465	0.223146558224	0.21909	0.7377803896227764	0.73723	0.261991650571	0.28766	0.391904473305	0.23938	T	0.290698	0.66347	T	-0.213378	0.18906	T	-0.2846	0.46330	T	0.203765528559915	0.20622	T	0.979502	0.93484	D	0.34272403	0.56495	0.16911417	0.38922	0.34272403	0.56495	0.16911417	0.38921	-6.208	0.51780	T	.	.	0.304	0.60101	B	.;.	.;.	2.860508	0.37796	20.6	0.97552546731643031	0.34577	0.93153	0.57464	D	AEFBI	0.556572	0.56655	D	-0.110500589714515	0.36934	2.14177	-0.056581818560547	0.37207	2.175383	0.999876672534418	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.43	1.37	0.21200	2.184000	0.42205	5.285000	0.48191	0.756000	0.94297	0.987000	0.36337	1.000000	0.68203	0.993000	0.69303	0.6658:0.0:0.3341:0.0	8.299	0.31166	590	0.68897	Beta-ketoacyl synthase, C-terminal|Polyketide synthase, beta-ketoacyl synthase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	860.27	34	chr3	25794138	.	A	C	860.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.576;DP=247;ExcessHet=0;FS=2.029;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.086;SOR=0.458	GT:AD:DP:GQ:PL	0/1:36,35:71:99:870,0,879	5	0	1	1
chr3	27484115	27484115	A	T	exonic	SLC4A7	.	nonsynonymous SNV	SLC4A7:NM_001258379:exon1:c.T12A:p.D4E,SLC4A7:NM_001321103:exon1:c.T12A:p.D4E,SLC4A7:NM_001321104:exon1:c.T12A:p.D4E,SLC4A7:NM_001321105:exon1:c.T12A:p.D4E,SLC4A7:NM_001321106:exon1:c.T12A:p.D4E,SLC4A7:NM_001321107:exon1:c.T12A:p.D4E,SLC4A7:NM_001321108:exon1:c.T12A:p.D4E	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	.	0.00159744	0.0091	0	0.0161	0	.	0	0	0.0123	0.0004657	72	154602	rs540556299	0.0004	0.0005	0.0002	0.0006	0.0084	0.0004	0.0004	0.0078	0.0076	3.884e-05	4.441e-05	0	0	0	0.0006	2.001e-06	0.0005	0.0084	0.0003	0.0003	0.0002	0.0004	0.0087	0.0002	0.0002	0.0066	0.0059	0	0	0	0	0	0	0	1.478e-05	0	0.0087	0.302	0.14400	T	0.807	0.04054	T	0.033	0.20350	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	.	.	.	-1.01	0.77206	T	-0.44	0.15782	N	0.035	0.01004	-0.9724	0.36691	T	0.176	0.52084	T	8	0.004274696	0.00086	T	.	.	.	0.109	0.30843	0.198	0.11110	0.134007934775	0.12933	0.10936974850207638	0.10865	.	.	.	.	.	.	.	.	-0.41242	0.01916	T	-0.359216	0.38143	T	0.0661104297318798	0.08095	T	0.641836	0.26051	T	.	.	.	.	.	.	.	.	-2.387	0.06695	T	.	.	0.083	0.09191	B	.;.;.;.;.;.	.;.;.;.;.;.	1.619645	0.20688	14.86	0.9147042564089195	0.20741	0.12922	0.17560	N	AEFDBHCI	0.080541	0.16287	N	-0.744187625820136	0.14792	0.7398571	-0.733978276889623	0.16116	0.8510647	0.999999898532294	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.372554	0.06265	0	.	.	3.34	-4.64	0.03109	-0.009000	0.12703	1.320000	0.25596	0.557000	0.28285	0.988000	0.36536	1.000000	0.68203	0.046000	0.14843	0.2461:0.1845:0.3881:0.1812	1.333	0.02010	376	0.83959	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	340.27	24	chr3	27484115	.	A	T	340.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=146;ExcessHet=0;FS=1.32;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=2.18;SOR=1.061	GT:AD:DP:GQ:PL	0/1:18,17:35:99:350,0,327	5	0	1	1
chr3	31989575	31989575	C	G	exonic	ZNF860	.	nonsynonymous SNV	ZNF860:NM_001137674:exon2:c.C496G:p.L166V	.	.	.	.	.	.	.	.	.	.	.	3358553	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.000721719557959	.	.	7.446e-05	9.846e-05	0	0	0	6.019e-05	0.0011	0.0002	5.82e-05	9	154602	rs145325915	9.098e-05	9.098e-05	9.12e-05	9.075e-05	0.0047	7.823e-05	7.305e-05	0.0033	0.0028	8.961e-05	0	0	0	0	0.0047	6.745e-05	8.279e-05	0.0003	8.54e-05	8.536e-05	3.853e-05	0.0001	0.0001	4.956e-05	3.962e-05	6.803e-05	5.086e-05	4.823e-05	0	6.546e-05	0	0	0	0.0032	0.0001	0	0	0.014	0.53172	D	0.031	0.53788	D	0.88	0.48402	P	0.899	0.63802	P	.	.	.	.	1	0.08975	N	2.67	0.78151	M	3.49	0.05071	T	-2.2	0.49519	N	0.02	0.00308	-1.0251	0.22050	T	0.031	0.13286	T	8	0.11222786	0.21045	T	7.22E-4	0.00472	T	0.037	0.09474	0.468	0.54052	0.30212335484	0.29822	0.005394210596519074	0.00510	0.236902228029	0.26229	0.286781191826	0.08455	T	0.009974	0.09046	T	-0.544008	0.00317	T	-0.727058	0.04461	T	0.100069691137418	0.12365	T	0.122788	0.00953	T	0.10720005	0.25348	0.09591591	0.22769	0.10720005	0.25348	0.09591591	0.22768	-7.947	0.60708	D	.	.	0.079	0.07130	B	.	.	1.578171	0.20196	14.64	0.89090605213807972	0.18503	0.00793	0.03241	N	AEFBI	0.035291	0.04516	N	-0.529375141103446	0.21135	1.119409	-0.821896193327794	0.13965	0.7272844	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	.	.	.	.	.	.	.	.	0.07143	3712.44	160	chr3	31989575	.	C	G	3712.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.181;DP=1093;ExcessHet=0;FS=1.46;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.507;SOR=0.588	GT:AD:DP:GQ:PL	0/1:127,145:272:99:3723,0,3096	6	0	1	0
chr3	37355187	37355187	G	A	exonic	GOLGA4	.	nonsynonymous SNV	GOLGA4:NM_001172713:exon22:c.G6708A:p.M2236I,GOLGA4:NM_002078:exon22:c.G6663A:p.M2221I	.	436	1082	4	0	0	4	0.00184502	0.9998	0.908	.	3203935	GOLGA4-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.065	.	0.0013	0.000599042	0.0015	0.0002	0.0009	0.0001	0.0009	0.0019	0.0022	0.0022	0.0015588	241	154602	rs148417077	0.0019	0.0020	0.0018	0.0019	0.0034	0.0018	0.0018	0.0022	0.0020	9.442e-05	0.0011	0.0002	2.547e-05	0.0007	0.0034	0.0021	0.0013	0.0024	0.0014	0.0014	0.0015	0.0012	0.0022	0.0012	0.0012	0.0019	0.0018	0.0005	0	0.0016	0	0	0.0002	0	0.0022	0.0028	0.0015	0.054	0.38633	T	0.13	0.34716	T	0.02	0.18235	B	0.009	0.14300	B	0.067457	0.21740	N	0.334801	0.998718	0.81001	D	1.61	0.41143	L	1.99	0.21865	T	-1.0	0.26422	N	0.306	0.34552	-1.0957	0.04653	T	0.055	0.23110	T	10	0.011218518	0.00256	T	0.007818	0.20747	T	0.065	0.18881	0.315	0.29096	0.0986583533028	0.09354	0.20167123621722574	0.20084	0.0930299432261	0.10505	0.339009284973	0.16289	T	0.049613	0.28356	T	-0.494446	0.00614	T	-0.488252	0.23574	T	0.0165429669009522	0.00417	T	0.725427	0.33942	T	0.30865234	0.53669	0.34196788	0.59929	0.30865234	0.53669	0.34196788	0.59928	-3.311	0.15232	T	.	.	0.349	0.56644	A	.;.;.	.;.;.	4.557567	0.71787	25.7	0.99245925747938823	0.56695	0.95913	0.66695	D	AEFBI	0.815559	0.73751	D	0.00853807020373336	0.42243	2.541583	0.204635807144295	0.50104	3.206023	0.999999999592792	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	4.426000	0.59629	9.953000	0.82742	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.109	0.97902	224	0.91330	.;.;.	.	.	.	.	.	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	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.015244	0.000000	0.07143	622.46	35	chr3	37355187	.	G	A	622.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.16;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=-0.514;SOR=0.784	GT:AD:DP:GQ:PL	0/1:36,28:64:99:633,0,809	6	0	1	0
chr3	38140571	38140571	T	C	exonic	MYD88	.	nonsynonymous SNV	MYD88:NM_001172567:exon3:c.T647C:p.L216S	Macroglobulinemia, Waldenstrom, somatic;Pyogenic bacterial infections, recurrent, due to MYD88 deficiency	0	1502	19	1	0	21	0.00694215	.	.	.	730212	Pyogenic_bacterial_infections_due_to_MyD88_deficiency	MONDO:MONDO:0012839,MedGen:C2677092,OMIM:612260,Orphanet:183713	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.045	0.019768446899	0.0003	0.00179712	0.0012	0	0.0002	0	0	0.0006	0.0044	0.0063	0.0010996	170	154602	rs148149492	0.0008	0.0008	0.0006	0.0010	0.0067	0.0008	0.0008	0.0062	0.0061	2.987e-05	0.0004	0.0010	0	0	0.0029	0.0005	0.0008	0.0067	0.0007	0.0007	0.0006	0.0008	0.0075	0.0006	0.0005	0.0055	0.0049	7.216e-05	0	0.0016	0.0012	0	0	0	0.0005	0.0009	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.9698	0.37242	T	0.013	0.05225	T	7	0.0047159493	0.00099	T	0.019768	0.42216	T	0.045	0.12272	.	.	0.257342827899	0.25358	.	.	.	.	0.438946783543	0.30432	T	.	.	.	-0.64172	0.00081	T	-0.691256	0.06317	T	0.0144193639081149	0.00291	T	0.288571	0.05217	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.467425	0.18910	13.99	0.9776812543240152	0.35850	0.08841	0.14709	N	AEFBCI	0.070243	0.13937	N	-0.624122582198243	0.18221	0.9442835	-0.694776229785044	0.17090	0.9071855	0.999581363395125	0.40607	0.627647	0.40530	0	0.672317	0.65289	0	0.596874	0.31795	0	0.491896	0.07777	0	.	.	5.08	-0.0251	0.13262	-0.404000	0.07267	0.031000	0.13732	0.665000	0.62972	0.001000	0.13787	0.962000	0.29361	0.929000	0.46594	0.2692:0.0876:0.3493:0.2939	1.489	0.02305	561	0.71236	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) 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	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.07143	1472.63	35	chr3	38140571	.	T	C	1472.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.459;DP=292;ExcessHet=0;FS=0.711;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.687;SOR=0.797	GT:AD:DP:GQ:PL	0/1:54,60:114:99:1483,0,1346	6	0	1	0
chr3	42979643	42979643	A	G	exonic	GASK1A	.	startloss	GASK1A:NM_001129908:exon1:c.A1G:p.M1?	.	419	1091	11	1	0	13	0.00592255	0.0017	0.086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	.	.	0.00119808	0.0014	0	0	0	0	0.0008	0	0.0105	0.0001035	16	154602	rs550518057	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0002	0.0027	0.0024	0	0.0004	0	0	2.996e-05	0.0024	0.0001	0.0003	0.0033	0.0002	0.0002	0.0002	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	2.407e-05	0	0.0001	0	0	0	0.0034	0.0001	0.0005	0.0029	0.0	0.91255	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	0.980197	0.39641	D	.	.	.	1.67	0.27331	T	-1.83	0.42957	N	0.618	0.63374	-0.8437	0.52399	T	0.156	0.48772	T	8	0.06672436	0.09193	T	.	.	.	0.349	0.67049	0.991	0.99904	0.117506650769	0.11410	0.2052084228163677	0.20437	.	.	.	.	.	.	.	.	-0.119994	0.33124	T	0.0618252	0.74367	D	0.221793084659216	0.21553	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.951608	0.39279	20.9	0.71442684932860889	0.09630	0.65503	0.32759	D	AEFDBHCI	0.144707	0.26773	N	0.628264256388169	0.74968	6.223914	0.371359831386446	0.59805	4.16158	0.999999508112893	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	3.05	3.05	0.34272	0.942000	0.28615	3.474000	0.38602	0.655000	0.54021	1.000000	0.71638	1.000000	0.68203	0.407000	0.26939	1.0:0.0:0.0:0.0	7.909	0.28938	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004478	0.000000	0.000000	0.000000	0.000000	0.071429	0.000000	0.014706	0.08333	240.27	25	chr3	42979643	.	A	G	240.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.935;DP=156;ExcessHet=0;FS=3.976;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.809;SOR=0.148	GT:AD:DP:GQ:PL	0/1:12,12:24:99:250,0,324	5	0	1	1
chr3	46203332	46203332	G	A	exonic	CCR1	.	nonsynonymous SNV	CCR1:NM_001295:exon2:c.C982T:p.L328F	.	415	1103	4	0	0	4	0.00180995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0282882188005	.	.	2.474e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs781769501	1.163e-05	1.163e-05	2.722e-06	2.063e-05	0.0002	7.08e-06	5.79e-06	0.0001	9.45e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.27	0.22359	T	0.006	0.13644	B	0.009	0.14300	B	0.140918	0.02885	U	2.490730	1	0.08975	N	1.295	0.32453	L	-0.2	0.66113	T	-1.51	0.36787	N	0.043	0.01577	-0.9079	0.47109	T	0.174	0.51753	T	10	0.05769524	0.06667	T	0.028288	0.50986	D	0.094	0.27141	0.499	0.58991	0.352477664867	0.34857	0.3559412497924361	0.35508	0.539670562832	0.51191	0.315603971481	0.12755	T	0.185506	0.53850	T	-0.376247	0.03289	T	-0.541561	0.18143	T	0.0283914854875719	0.01745	T	0.288971	0.05229	T	0.05719725	0.11353	0.08023508	0.18134	0.05719725	0.11352	0.08023508	0.18133	-3.835	0.21328	T	.	.	0.086	0.10691	B	.	.	1.150066	0.15382	11.81	0.98237732995198346	0.39449	0.02196	0.06414	N	AEFBI	0.063405	0.12250	N	-0.886675214433289	0.11158	0.5370062	-0.935087465888767	0.11270	0.5731046	0.99800111121482	0.36301	0.562547	0.31514	0	0.653731	0.59785	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	-3.53	0.04369	0.087000	0.14801	-0.718000	0.07718	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.886000	0.42526	0.5253:0.2952:0.1795:0.0	7.164	0.24855	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1758.49	34	chr3	46203332	.	G	A	1758.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.661;DP=300;ExcessHet=0;FS=1.484;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-1.929;SOR=0.857	GT:AD:DP:GQ:PL	0/1:57,69:126:99:1769,0,1341	6	0	1	0
chr3	46989375	46989375	G	A	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon5:c.G446A:p.R149H,NBEAL2:NM_015175:exon5:c.G467A:p.R156H	Gray platelet syndrome, Autosomal recessive	0	1511	10	1	0	12	0.00395517	.	.	.	734089	not_specified|not_provided|Gray_platelet_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.036	0.0145040141877	0.0006	0.000998403	0.0023	0.0003	0.0013	0	0	0.0027	0.0033	0.0034	0.0007956	123	154602	rs199797249	0.0007	0.0007	0.0006	0.0009	0.0037	0.0007	0.0007	0.0034	0.0033	6.13e-05	0.0004	0.0141	7.966e-05	0	0.0016	0.0002	0.0014	0.0037	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0005	0.0014	0.0011	0.0001	0	0.0007	0.0144	0	0	0	0.0003	0.0024	0.0025	0.535	0.06913	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	-1.355	0.00654	N	0.5	0.55608	T	0.01	0.06868	N	0.126	0.11912	-1.0993	0.04177	T	0.052	0.22192	T	9	0.0032401085	0.00055	T	0.014504	0.34657	T	0.036	0.09122	.	.	0.102598925029	0.09809	0.11799494674644576	0.11726	0.236531920032	0.26193	0.215354144573	0.01059	T	0.021182	0.16539	T	-0.565021	0.00237	T	-0.586811	0.13943	T	0.0177228832903244	0.00502	T	0.783622	0.42065	T	0.0276266	0.01981	0.03702246	0.03269	0.03915508	0.05352	0.03297379	0.02117	-4.292	0.28065	T	.	.	0.056	0.00436	B	.	.	3.037572	0.40708	21.2	0.78254874175789135	0.12222	0.56748	0.30197	D	AEFBCI	0.072370	0.14440	N	-0.853301204120781	0.11969	0.5806503	-0.717842699980631	0.16516	0.8741012	0.999626527138235	0.41093	0.722319	0.85440	0	0.696144	0.67643	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	3.92	-2.16	0.06684	1.354000	0.33660	2.706000	0.34198	-0.116000	0.14526	0.999000	0.42656	0.955000	0.29136	0.992000	0.67800	0.2782:0.0:0.3325:0.3893	3.659	0.07770	29	0.98227	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.002725	0.000000	0.000000	0.000000	0.003049	0.007634	0.07143	1346.63	34	chr3	46989375	.	G	A	1346.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.25;DP=276;ExcessHet=0;FS=3.871;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-1.677;SOR=1.02	GT:AD:DP:GQ:PL	0/1:43,50:93:99:1357,0,1074	6	0	1	0
chr3	47121539	47121539	T	C	exonic	SETD2	.	nonsynonymous SNV	SETD2:NM_001349370:exon2:c.A2965G:p.T989A,SETD2:NM_014159:exon3:c.A3097G:p.T1033A	Luscan-Lumish syndrome, Autosomal dominant	419	1093	9	1	0	11	0.00500683	.	.	.	138954	Luscan-Lumish_syndrome|not_specified|not_provided	MONDO:MONDO:0014791,MedGen:C4085873,OMIM:616831,Orphanet:597738|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.090	0.0128914804187	0.0007	0.000998403	0.0010	9.654e-05	0.0002	0	0	0.0011	0.0011	0.0028	0.0008926	138	154602	rs145759179	0.0007	0.0007	0.0006	0.0008	0.0037	0.0007	0.0007	0.0033	0.0032	2.987e-05	0.0004	0.0135	0	0	0.0017	0.0002	0.0014	0.0037	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0005	0.0014	0.0011	9.619e-05	0	0.0007	0.0141	0	0	0	0.0003	0.0019	0.0025	0.156	0.24090	T	0.363	0.16815	T	0.01	0.15535	B	0.002	0.06944	B	0.006156	0.32237	N	0.218075	0.990508	0.24162	N	0.145	0.08828	N	-2.29	0.87591	D	-1.1	0.46146	N	0.077	0.05162	-0.8181	0.54053	T	0.310	0.68012	T	10	0.004057318	0.00079	T	0.012891	0.31852	T	0.090	0.26093	.	.	0.514870668196	0.51130	0.18933225162775694	0.18851	0.250755808032	0.27649	0.328769266605	0.14747	T	0.09115	0.38735	T	-0.350524	0.04694	T	-0.279016	0.46905	T	0.00928954911060886	0.00118	T	0.621638	0.24364	T	0.034744233	0.03958	0.032573316	0.02014	0.033782486	0.03665	0.027065253	0.00834	-3.247	0.13063	T	0.09114623702421147	0.05752	0.068	0.07507	B	.;.	.;.	1.675540	0.21359	15.16	0.97746549279741712	0.35714	0.26711	0.23071	N	AEFDBI	0.029261	0.02731	N	-0.42219843412744	0.24693	1.335111	-0.248005505942052	0.29840	1.675123	0.999912977257654	0.45857	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.03	3.87	0.43823	0.848000	0.27362	3.062000	0.36164	0.665000	0.62972	0.384000	0.26039	1.000000	0.68203	0.996000	0.76049	0.0:0.2071:0.2665:0.5264	3.094	0.05922	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	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1283.49	33	chr3	47121539	.	T	C	1283.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=337;ExcessHet=0;FS=0.651;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.143;SOR=0.631	GT:AD:DP:GQ:PL	0/1:78,53:131:99:1294,0,2063	6	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	.	.	.	.	.	.	.	.	0.3333	269.47	40	chr3	48174283	.	C	G	269.47	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.343;DP=419;ExcessHet=3.1439;FS=328.398;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=0.838;SOR=9.507	GT:AD:DP:GQ:PL	0/1:41,17:61:24:24,0,681	2	0	4	1
chr3	48574299	48574299	G	-	exonic	COL7A1	.	frameshift deletion	COL7A1:NM_000094:exon80:c.6464delC:p.P2155Qfs*51	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1170192	Abnormality_of_the_skin	Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2077.4	36	chr3	48574298	.	TG	T	2077.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.174;DP=368;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.276;SOR=0.718	GT:AD:DP:GQ:PL	0/1:96,69:165:99:2088,0,3092	6	0	1	0
chr3	48645117	48645117	C	T	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon25:c.G7890A:p.M2630I	.	415	1027	71	9	0	89	0.0415306	.	.	.	48715	Variant_of_unknown_significance|not_provided	MedGen:C2986382|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.393	.	0.0009	0.00319489	0.0044	0.0002	0.0027	0	0.0002	0.0026	0.0084	0.0197	0.0036869	570	154602	rs149614835	0.0024	0.0025	0.0019	0.0030	0.0382	0.0024	0.0024	0.0341	0.0325	0.0009	0.0017	0.0094	5.072e-05	0.0003	0.0382	0.0011	0.0040	0.0181	0.0018	0.0018	0.0015	0.0020	0.0190	0.0016	0.0015	0.0159	0.0147	0.0003	0	0.0020	0.0098	0	0.0002	0.0170	0.0013	0.0024	0.0190	0.006	0.61437	D	0.005	0.72224	D	0.987	0.61912	D	0.908	0.64494	P	.	.	.	.	1	0.81001	D	2.13	0.59329	M	1.29	0.35775	T	-3.59	0.69236	D	0.812	0.80767	-0.6440	0.62974	T	0.226	0.59007	T	9	0.011453748	0.00250	T	.	.	.	0.393	0.70844	0.547	0.66156	0.808317247251	0.80651	0.8152272965699411	0.81478	0.981655826999	0.73759	0.719656050205	0.69997	T	0.370865	0.73533	T	-0.112624	0.34336	T	0.0810421	0.75648	D	0.0384281591043975	0.03409	T	0.772323	0.40326	T	0.5032531	0.67286	0.45666093	0.68420	0.5032531	0.67287	0.45666093	0.68420	-10.2	0.75100	D	.	.	0.409	0.60090	A	.	.	4.422272	0.68507	25.2	0.99749842171488468	0.84152	0.98385	0.82238	D	AEFBI	0.885987	0.81699	D	0.678335262368401	0.78214	6.826448	0.68768746655041	0.81442	7.527931	0.999999999992481	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.24	5.24	0.72863	7.541000	0.81014	2.197000	0.31255	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.828	0.92093	4	0.99387	GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021148	0.015152	0.020436	0.058480	0.050000	0.025862	0.018293	0.015267	0.1429	1603.34	54	chr3	48645117	.	C	T	1603.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.789;DP=284;ExcessHet=0.3476;FS=1.355;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.81;SOR=0.838	GT:AD:DP:GQ:PL	0/1:41,41:82:99:1087,0,1162	5	0	2	0
chr3	49660642	49660642	G	A	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon6:c.G8797A:p.V2933I	.	404	1080	36	2	0	40	0.0181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0075180187029	0.0005	0.00179712	0.0016	0.0001	0.0012	0	0	0.0011	0.0023	0.0061	0.0013777	213	154602	rs140228596	0.0010	0.0010	0.0007	0.0012	0.0068	0.0009	0.0009	0.0064	0.0062	0.0001	0.0013	3.829e-05	0	0.0001	0.0066	0.0006	0.0015	0.0068	0.0008	0.0008	0.0008	0.0009	0.0058	0.0007	0.0007	0.0041	0.0036	0.0001	0	0.0031	0	0	0	0.0068	0.0006	0	0.0058	0.22	0.18956	T	0.394	0.15305	T	0.0	0.02946	B	0.001	0.04355	B	0.180672	0.17111	N	0.578066	0.984982	0.24752	N	0.49	0.13296	N	2.26	0.17596	T	-0.29	0.11728	N	0.217	0.24260	-1.0091	0.27198	T	0.023	0.09878	T	10	0.0044980347	0.00092	T	0.007518	0.19952	T	0.030	0.07022	.	.	0.138757226776	0.13463	0.05701304665050847	0.05642	0.225153463883	0.25054	0.496408551931	0.38328	T	0.130727	0.45980	T	-0.59564	0.00155	T	-0.625622	0.10749	T	0.0124090065337999	0.00203	T	0.582642	0.21138	T	0.038884904	0.05266	0.043235466	0.05332	0.038884904	0.05266	0.043235466	0.05331	-5.185	0.38789	T	.	.	0.068	0.02829	B	.	.	1.070448	0.14528	11.10	0.92405905492457152	0.21820	0.64535	0.32438	D	AEFDBI	0.196174	0.32317	N	-0.50733603732571	0.21843	1.162116	-0.369900094494517	0.25900	1.427168	0.950309610023665	0.27888	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.5	2.68	0.30839	0.688000	0.25103	0.887000	0.22442	0.676000	0.76740	0.029000	0.20367	0.605000	0.25739	0.993000	0.69303	0.2626:0.0:0.7374:0.0	7.503	0.26699	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	0.004028	0.005051	0.002725	0.000000	0.000000	0.000000	0.009146	0.003788	0.1429	1951.65	54	chr3	49660642	.	G	A	1951.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.316;DP=284;ExcessHet=0.3476;FS=2.119;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=1.68;SOR=0.904	GT:AD:DP:GQ:PL	0/1:49,38:87:99:1020,0,1409	5	0	2	0
chr3	52248442	52248442	C	G	exonic	PPM1M	.	nonsynonymous SNV	PPM1M:NM_001122870:exon5:c.C267G:p.H89Q,PPM1M:NM_144641:exon6:c.C903G:p.H301Q	.	423	1078	20	0	1	21	0.00919118	.	.	.	4013932	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.035	0.00853430768125	0.0051	0.00319489	0.0060	0.0009	0.0057	0	0.0023	0.0071	0.0069	0.0091	0.001216	188	154602	rs116696868	0.0067	0.0068	0.0068	0.0067	0.0090	0.0066	0.0066	0.0085	0.0083	0.0010	0.0042	0.0038	5.039e-05	0.0022	0.0057	0.0074	0.0055	0.0090	0.0043	0.0043	0.0045	0.0042	0.0089	0.0040	0.0039	0.0069	0.0067	0.0006	0	0.0028	0.0023	0.0002	0.0021	0.0102	0.0074	0.0038	0.0089	0.273	0.15876	T	0.293	0.21011	T	0.68	0.41398	P	0.212	0.37394	B	0.282013	0.14927	N	0.654726	0.999573	0.47641	D	0.405	0.12330	N	1.61	0.40469	T	-2.04	0.46842	N	0.528	0.55713	-0.9527	0.40503	T	0.121	0.42079	T	10	0.011079937	0.00244	T	0.008534	0.22557	T	0.035	0.08770	0.403	0.43408	0.528109557721	0.52457	0.33801899207430147	0.33714	0.358361118435	0.37549	0.442859679461	0.30969	T	0.024872	0.19245	T	-0.486087	0.00683	T	-0.464468	0.26113	T	0.0112913582151383	0.00167	T	0.882712	0.61581	D	0.21693349	0.44164	0.15779182	0.36879	0.21693349	0.44164	0.15779182	0.36878	-7.673	0.58820	D	.	.	0.141	0.37044	B	.;.;.	.;.;.	3.088768	0.41578	21.4	0.96755822203726249	0.30980	0.91598	0.53864	D	AEFDGBCI	0.560679	0.56898	D	0.15993153743701	0.49283	3.130438	0.25061974809297	0.52683	3.441666	0.999999999999692	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.696353	0.63694	0	0.711	0.71501	0	.	.	4.5	4.5	0.54382	4.568000	0.60573	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.537	0.75751	137	0.94565	PPM-type phosphatase domain|PPM-type phosphatase domain|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	0	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.017241	0.009146	0.007576	0.07143	1065.53	35	chr3	52248442	.	C	G	1065.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.22;DP=262;ExcessHet=0;FS=0.785;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.075;SOR=0.821	GT:AD:DP:GQ:PL	0/1:51,41:92:99:1076,0,1302	6	0	1	0
chr3	52783126	52783126	G	A	splicing	ITIH1	NM_002215:exon9:c.1099+1G>A;NM_001166434:exon7:c.673+1G>A;NM_001166435:exon5:c.235+1G>A;NM_001166436:exon5:c.235+1G>A	.	.	.	425	1090	7	0	0	7	0.00320073	1.0000	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00179712	0.0007	0.0002	8.684e-05	0	0	0.0001	0.0011	0.0046	0.0006533	101	154602	rs143471792	0.0003	0.0003	0.0002	0.0005	0.0046	0.0003	0.0003	0.0043	0.0041	0	8.944e-05	0	0	0	0.0016	4.227e-05	0.0004	0.0046	0.0003	0.0003	0.0002	0.0004	0.0056	0.0002	0.0002	0.0040	0.0034	4.821e-05	0	6.616e-05	0	0	0	0	0.0001	0.0005	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.247476	0.14411	T	-0.127855	0.61152	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.882059	0.93934	33	0.96362444550674142	0.29557	0.98442	0.82821	D	AEFBI	.	.	.	0.730373224314331	0.81625	7.565956	0.519768001526731	0.69322	5.343761	0.996777427870379	0.34998	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.075334	0.01956	0	0.808751	0.48002	5.37	4.5	0.54382	3.675000	0.54340	9.831000	0.81862	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.712000	0.34516	0.0912:0.0:0.9088:0.0	9.900	0.40509	33	0.98110	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2722.53	38	chr3	52783126	.	G	A	2722.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.193;DP=383;ExcessHet=0;FS=3.289;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.602;SOR=0.846	GT:AD:DP:GQ:PL	0/1:82,112:194:99:2733,0,1868	6	0	1	0
chr3	52818090	52818090	C	T	exonic	ITIH4	.	nonsynonymous SNV	ITIH4:NM_001166449:exon18:c.G2168A:p.R723H,ITIH4:NM_002218:exon20:c.G2258A:p.R753H	.	405	1109	8	0	0	8	0.00359389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0008	0.00219649	0.0012	0.0007	0.0002	0.0001	0	0.0009	0.0011	0.0046	0.0012484	193	154602	rs61729487	0.0012	0.0012	0.0011	0.0013	0.0045	0.0011	0.0011	0.0041	0.0040	0.0004	0.0005	7.653e-05	0.0001	0	0.0027	0.0011	0.0012	0.0045	0.0009	0.0009	0.0008	0.0009	0.0054	0.0007	0.0007	0.0038	0.0032	0.0003	0	0.0008	0	0	0	0	0.0011	0.0019	0.0054	0.146	0.25255	T	0.101	0.39799	T	0.0	0.02946	B	0.001	0.04355	B	0.947267	0.08312	N	0.972957	1	0.08975	N	0.41	0.12415	N	4.96	0.01376	T	-0.68	0.19509	N	0.065	0.10056	-0.8903	0.48908	T	0.004	0.01330	T	10	0.004061371	0.00079	T	.	.	.	0.028	0.06331	.	.	0.202086224978	0.19791	0.20803629097237358	0.20719	0.336045285485	0.35606	0.233632564545	0.02247	T	0.20517	0.56416	T	-0.731288	0.00023	T	-0.822954	0.01394	T	0.0033041020512021	0.00035	T	0.563744	0.19863	T	0.030768884	0.02799	0.023521496	0.00365	0.030768884	0.02799	0.023521496	0.00365	-4.005	0.24935	T	0.08938538479605578	0.05458	0.072	0.04436	B	.;.;.	.;.;.	0.801986	0.11727	8.304	0.85760746883729011	0.16095	0.01268	0.04441	N	AEFDGBI	0.244779	0.36583	N	-1.43738044141622	0.02318	0.1022065	-1.42375187131191	0.03015	0.1398891	0.991753686844691	0.32597	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.8	1.84	0.24348	-0.077000	0.11356	2.844000	0.35098	-2.189000	0.00360	0.000000	0.06391	0.162000	0.23270	0.006000	0.07323	0.0978:0.3129:0.4284:0.1609	3.346	0.06719	59	0.97452	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003528	0.000000	0.001362	0.008772	0.000000	0.017241	0.000000	0.003788	0.07143	872.46	64	chr3	52818090	.	C	T	872.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.34;DP=311;ExcessHet=0;FS=3.942;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=1.16;SOR=0.689	GT:AD:DP:GQ:PL	0/1:59,37:96:99:883,0,1448	6	0	1	0
chr3	52852692	52852692	T	G	exonic	STIMATE;STIMATE-MUSTN1	.	nonsynonymous SNV	STIMATE-MUSTN1:NM_001198974:exon3:c.A216C:p.L72F,STIMATE:NM_198563:exon3:c.A216C:p.L72F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509	0.00373680548302	.	.	8.297e-06	0	8.693e-05	0	0	0	0	0	6.5e-06	1	154602	rs758297728	6.157e-06	6.156e-06	0	1.238e-05	8.116e-05	2.9e-06	2.1e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	0	3.312e-05	8.116e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.05137	T	0.632	0.07419	T	0.941	0.52883	P	0.701	0.54186	P	0.000011	0.62929	U	0.000000	0.999999	0.58761	D	.	.	.	.	.	.	1.64	0.00621	N	0.719	0.72120	-1.0941	0.04884	T	0.093	0.35444	T	9	0.24905866	0.42211	T	0.003737	0.08682	T	0.509	0.78910	0.472	0.54699	0.043077524339	0.03247	0.7446753400130378	0.77411	1.3426112449	0.95159	0.849400520325	0.89524	D	0.011695	0.10398	T	-0.103636	0.35822	T	-0.183043	0.56240	T	0.609934687614441	0.36798	D	0.935306	0.75759	D	0.0651618	0.13899	0.09445641	0.22358	0.0651618	0.13898	0.09445641	0.22358	-5.5	0.41868	T	.	.	0.311	0.53846	B	.;.	.;.	2.240074	0.28600	17.85	0.94525253848546587	0.25020	0.79839	0.39643	D	AEFBI	0.168358	0.29511	N	-0.136258249727676	0.35821	2.062472	-0.0637014865483604	0.36904	2.153682	0.979365204325877	0.30020	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.42	1.64	0.22949	1.001000	0.29384	3.475000	0.38608	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.3987:0.0:0.6013	8.560	0.32664	123	0.95099	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1339.63	40	chr3	52852692	.	T	G	1339.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.34;DP=289;ExcessHet=0;FS=1.568;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.729;SOR=0.909	GT:AD:DP:GQ:PL	0/1:52,56:108:99:1350,0,1265	6	0	1	0
chr3	57415539	57415539	C	T	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon38:c.G5740A:p.G1914S	.	435	1077	10	0	0	10	0.00462107	.	.	.	3416383	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.894	0.48862716622	0.0059	0.00219649	0.0050	0.0028	0.0024	0	0	0.0088	0.0053	0.0020	0.0017529	271	154602	rs189965161	0.0081	0.0078	0.0083	0.0080	0.0093	0.0080	0.0079	0.0092	0.0091	0.0014	0.0018	0.0025	2.804e-05	0.0119	0.0051	0.0093	0.0055	0.0017	0.0064	0.0064	0.0065	0.0063	0.0096	0.0061	0.0059	0.0090	0.0088	0.0016	0.1064	0.0020	0.0026	0	0.0092	0.0102	0.0096	0.0038	0.0015	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1.000	0.50806	D	4.095	0.97289	H	-2.68	0.90391	D	-5.6	0.86608	D	0.898	0.89800	0.885	0.95468	D	0.874	0.95800	D	9	0.012067914	0.00261	T	0.488627	0.94961	D	0.894	0.96985	.	.	0.902215811188	0.90123	.	.	.	.	0.823674917221	0.85592	D	0.315905	0.68748	T	0.138099	0.68144	D	0.436625	0.93231	D	0.112297389813193	0.13661	T	0.998031	0.99924	D	0.8050511	0.84231	0.81149155	0.88995	0.8050511	0.84232	0.81149155	0.88996	-7.098	0.54746	T	.	.	0.937	0.85593	P	.;.	.;.	4.905209	0.80657	27.4	0.99378342684848686	0.61759	0.97974	0.78556	D	AEFI	0.929378	0.91505	D	1.0085143022351	0.96000	14.19206	0.926805815273706	0.96639	14.94817	0.999999919520788	0.74766	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.44	5.44	0.79348	7.684000	0.83402	7.657000	0.64017	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.638	0.95739	303	0.87825	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	rs189965161	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	.	.	.	.	.	.	.	.	0.08333	435.27	30	chr3	57415539	.	C	T	435.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.557;DP=214;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-1.027;SOR=0.915	GT:AD:DP:GQ:PL	0/1:31,21:52:99:445,0,695	5	0	1	1
chr3	58866572	58866572	G	C	exonic	CFAP20DC	.	nonsynonymous SNV	CFAP20DC:NM_001351530:exon10:c.C1087G:p.Q363E,CFAP20DC:NM_001351531:exon10:c.C637G:p.Q213E,CFAP20DC:NM_001351532:exon11:c.C322G:p.Q108E,CFAP20DC:NM_198463:exon11:c.C877G:p.Q293E	.	430	1065	27	0	0	27	0.0125174	.	.	.	706502	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.057	0.0024064041743	0.0026	0.00259585	0.0032	9.617e-05	0.0019	0	0	0.0033	0.0022	0.0086	0.0028331	438	154602	rs139315615	0.0022	0.0023	0.0019	0.0025	0.0105	0.0022	0.0021	0.0084	0.0076	0.0003	0.0024	0.0260	0	9.368e-05	0.0105	0.0013	0.0041	0.0079	0.0024	0.0024	0.0022	0.0026	0.0112	0.0022	0.0021	0.0088	0.0080	0.0002	0	0.0044	0.0303	0	0	0.0034	0.0018	0.0047	0.0112	0.116	0.28395	T	0.87	0.49663	T	0.341	0.47975	B	0.109	0.46460	B	0.513447	0.11819	N	0.781238	0.995676	0.23230	N	2.295	0.65404	M	2.25	0.19450	T	-0.55	0.32791	N	0.18	0.29774	-1.1196	0.02357	T	0.064	0.26420	T	10	0.0064465106	0.00146	T	0.002406	0.04701	T	0.057	0.16321	.	.	0.204665344411	0.20097	0.2862177999819489	0.28534	0.136170689672	0.15352	.	.	.	.	.	.	-0.538743	0.00341	T	-0.542358	0.18065	T	0.0339354908593299	0.02626	T	0.770023	0.45571	T	.	.	.	.	.	.	.	.	-2.644	0.06845	T	.	.	0.064	0.02578	B	.;.;.	.;.;.	1.931132	0.24526	16.43	0.98033529964056532	0.37728	0.82113	0.41391	D	AEFBI	0.180221	0.30752	N	0.143212010593158	0.48491	3.060739	0.185055916950351	0.49027	3.11102	0.825617431940533	0.24601	0.608746	0.35421	0	0.588015	0.36545	0	0.731467	0.93227	0	0.567892	0.33627	0	.	.	5.88	5.0	0.66209	2.234000	0.42681	4.114000	0.41935	0.676000	0.76740	0.998000	0.41325	0.976000	0.30059	0.991000	0.66497	0.0:0.1616:0.8384:0.0	13.029	0.58239	460	0.78750	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.008595	0.000000	0.005435	0.026471	0.000000	0.008621	0.006211	0.003788	0.07143	154.94	20	chr3	58866572	.	G	C	154.94	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.307;DP=112;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=-0.376;SOR=0.859	GT:AD:DP:GQ:PL	0/1:14,8:22:99:165,0,348	6	0	1	0
chr3	63995985	63995985	-	TCCTCCTCCTCC	exonic	ATXN7	.	nonframeshift insertion	ATXN7:NM_001128149:exon8:c.1728_1729insTCCTCCTCCTCC:p.S583_H584insSSSS,ATXN7:NM_001177387:exon11:c.2163_2164insTCCTCCTCCTCC:p.S728_H729insSSSS,ATXN7:NM_001377406:exon11:c.2163_2164insTCCTCCTCCTCC:p.S728_H729insSSSS,ATXN7:NM_000333:exon12:c.2163_2164insTCCTCCTCCTCC:p.S728_H729insSSSS,ATXN7:NM_001377405:exon12:c.2163_2164insTCCTCCTCCTCC:p.S728_H729insSSSS	Spinocerebellar ataxia 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.287e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs750825743	8.21e-06	8.209e-06	4.084e-06	1.238e-05	0.0002	4.38e-06	3.46e-06	2.996e-05	2.038e-05	0	0	0	0	0	0.0002	3.598e-06	1.656e-05	6.958e-05	6.572e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2021.41	34	chr3	63995985	.	T	TTCCTCCTCCTCC	2021.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.274;DP=336;ExcessHet=0;FS=5.195;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-1.483;SOR=0.572	GT:AD:DP:GQ:PL	0/1:80,59:139:99:2032,0,3039	6	0	1	0
chr3	73624312	73624312	C	T	exonic	PDZRN3	.	nonsynonymous SNV	PDZRN3:NM_015009:exon1:c.G514A:p.A172T	.	438	1078	5	1	0	7	0.00323625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0883595003561	.	0.00139776	0	0	0	0	0	0	0	0	0.0004226	11	26028	rs540479588	0.0006	0.0007	0.0004	0.0008	0.0155	0.0005	0.0005	0.0145	0.0141	4.306e-05	0	0	0	0	0.0006	1.234e-05	0.0008	0.0155	0.0004	0.0004	0.0002	0.0007	0.0130	0.0004	0.0003	0.0105	0.0095	2.412e-05	0	0	0	0	0	0	2.948e-05	0	0.0130	0.02	0.49613	D	0.244	0.40586	T	0.977	0.58535	D	0.37	0.43538	B	0.000175	0.48594	D	0.135938	0.999994	0.58761	D	1.59	0.40313	L	1.75	0.26152	T	-0.86	0.31778	N	0.117	0.20129	-1.0973	0.04433	T	0.062	0.25923	T	10	0.008140951	0.00185	T	0.08836	0.75118	D	0.074	0.21613	0.286	0.24440	0.225033846419	0.22103	0.28084007331368244	0.27997	1.45948047414	0.86318	0.92082875967	0.98386	D	0.019351	0.15433	T	-0.0789976	0.39878	T	-0.351251	0.39062	T	0.909826755523682	0.56485	D	0.791621	0.43272	T	0.1990136	0.41826	0.162072	0.37666	0.1990136	0.41825	0.162072	0.37665	-7.542	0.57905	D	.	.	0.101	0.17700	B	.;.	.;.	3.945361	0.57762	23.9	0.99782433992192687	0.86867	0.87012	0.46427	D	AEFDBHCIJ	0.459616	0.51014	N	0.242531661651486	0.53270	3.496737	0.261700638871821	0.53317	3.501307	1.0	0.98316	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.69	4.69	0.58546	4.955000	0.63343	5.529000	0.48841	0.444000	0.21144	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	16.625	0.84806	962	0.08456	.;.	.	.	.	.	.	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	0.003367	0.000000	0.001534	0.000000	0.000000	0.000000	0.000000	0.021186	0.07143	708.63	29	chr3	73624312	.	C	T	708.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.684;DP=222;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-1.397;SOR=0.859	GT:AD:DP:GQ:PL	0/1:28,33:61:99:719,0,647	6	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	10882.8	91	chr3	75730451	.	T	G	10882.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.742;DP=592;ExcessHet=3.6764;FS=3.315;MLEAC=7;MLEAF=0.5;MQ=54.76;MQRankSum=-5.737;QD=20.57;ReadPosRankSum=0.391;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,97:176:99:0|1:75730450_C_T:3768,0,3025:75730450	1	1	5	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	667.31	49	chr3	75730611	.	G	T	667.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.38;DP=365;ExcessHet=4.7409;FS=65.71;MLEAC=5;MLEAF=0.357;MQ=56.75;MQRankSum=-7.384;QD=2.17;ReadPosRankSum=-2.389;SOR=6.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,10:87:99:.:.:164,0,3043:.	2	0	5	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2416.31	91	chr3	75736884	.	G	GA	2416.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.592;DP=725;ExcessHet=4.7409;FS=3.225;MLEAC=5;MLEAF=0.357;MQ=56.69;MQRankSum=-6.418;QD=4.13;ReadPosRankSum=1.28;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:184,36:220:99:.:.:381,0,6865:.	2	0	5	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	6117.79	97	chr3	75736891	.	G	A	6117.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.958;DP=732;ExcessHet=6.1542;FS=3.524;MLEAC=5;MLEAF=0.417;MQ=56.66;MQRankSum=-6.731;QD=9.98;ReadPosRankSum=1.2;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:140,89:229:99:.:.:2529,0,5250:.	1	0	5	1
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	6023.79	105	chr3	75736920	.	C	A	6023.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.206;DP=769;ExcessHet=6.1542;FS=1.251;MLEAC=5;MLEAF=0.417;MQ=55.16;MQRankSum=-6.694;QD=9.3;ReadPosRankSum=0.441;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,84:238:99:0|1:75736920_C_A:3037,0,6214:75736920	1	0	5	1
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5966.79	110	chr3	75736928	.	C	T	5966.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.9;DP=764;ExcessHet=6.1542;FS=1.985;MLEAC=5;MLEAF=0.417;MQ=54.58;MQRankSum=-7.092;QD=9.27;ReadPosRankSum=-0.328;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,83:241:99:0|1:75736920_C_A:3010,0,6372:75736920	1	0	5	1
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	3640.72	111	chr3	75736981	.	T	C	3640.72	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.791;DP=780;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=52.71;MQRankSum=-4.821;QD=5.67;ReadPosRankSum=-2.194;SOR=0.674	GT:AD:DP:GQ:PL	0/1:149,78:227:99:1733,0,4789	1	0	5	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5397.79	132	chr3	75737012	.	C	T	5397.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.22;DP=798;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=53.23;MQRankSum=-4.663;QD=8.1;ReadPosRankSum=-1.168;SOR=0.684	GT:AD:DP:GQ:PL	0/1:119,94:213:99:2302,0,3743	1	0	5	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9255.85	148	chr3	75737060	.	A	G	9255.85	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.535;DP=881;ExcessHet=3.6764;FS=1.107;MLEAC=7;MLEAF=0.5;MQ=53.38;MQRankSum=-5.265;QD=12.32;ReadPosRankSum=1.24;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,127:239:99:.:.:2896,0,3062:.	1	1	5	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13633.8	135	chr3	75737092	.	C	T	13633.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.219;DP=904;ExcessHet=3.6764;FS=1.095;MLEAC=7;MLEAF=0.5;MQ=54.9;MQRankSum=-7.465;QD=17.59;ReadPosRankSum=0.982;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,132:238:99:0|1:75737092_C_T:5220,0,4005:75737092	1	1	5	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13457.8	134	chr3	75737094	.	T	A	13457.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.999;DP=893;ExcessHet=3.6764;FS=1.104;MLEAC=7;MLEAF=0.5;MQ=55.1;MQRankSum=-7.727;QD=17.48;ReadPosRankSum=0.701;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,131:237:99:0|1:75737092_C_T:5182,0,4008:75737092	1	1	5	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12688.8	128	chr3	75737105	.	T	A	12688.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.611;DP=850;ExcessHet=3.6764;FS=1.769;MLEAC=7;MLEAF=0.5;MQ=55.69;MQRankSum=-8.189;QD=16.96;ReadPosRankSum=0.071;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,124:229:99:0|1:75737092_C_T:4891,0,4036:75737092	1	1	5	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	10476.5	115	chr3	75737127	.	A	C	10476.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.467;DP=801;ExcessHet=8.2628;FS=3.274;MLEAC=6;MLEAF=0.429;MQ=56.32;MQRankSum=-7.966;QD=14.92;ReadPosRankSum=0.637;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,103:207:99:0|1:75737092_C_T:4012,0,4057:75737092	1	0	6	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	5788.44	92	chr3	75737163	.	CCTACATTCT	C	5788.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.039;DP=689;ExcessHet=8.2628;FS=6.808;MLEAC=6;MLEAF=0.429;MQ=56.82;MQRankSum=-7.58;QD=9.91;ReadPosRankSum=0.068;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,57:166:99:0|1:75737092_C_T:2062,0,4365:75737092	1	0	6	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	.	.	.	.	.	.	.	.	0.3571	17345.3	136	chr3	75737519	.	G	A	17345.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.36;DP=884;ExcessHet=4.7409;FS=3.313;MLEAC=5;MLEAF=0.357;MQ=55.92;MQRankSum=-5.949;QD=22.97;ReadPosRankSum=-0.619;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,182:242:99:.:.:7108,0,1455:.	2	0	5	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	19118.5	151	chr3	75737590	.	A	G	19118.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.382;DP=1036;ExcessHet=8.2628;FS=1.103;MLEAC=6;MLEAF=0.429;MQ=52.32;MQRankSum=-10.59;QD=20.76;ReadPosRankSum=0.96;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,194:321:99:0|1:75737590_A_G:7625,0,4733:75737590	1	0	6	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20118.5	159	chr3	75737608	.	T	C	20118.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0;DP=1080;ExcessHet=8.2628;FS=0.522;MLEAC=6;MLEAF=0.429;MQ=52.21;MQRankSum=-11.48;QD=20.81;ReadPosRankSum=1.44;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,201:341:99:0|1:75737590_A_G:8019,0,5274:75737590	1	0	6	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20414.5	161	chr3	75737622	.	T	A	20414.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.071;DP=1104;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=52.69;MQRankSum=-11.03;QD=20.66;ReadPosRankSum=0.403;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,201:347:99:0|1:75737590_A_G:8000,0,5525:75737590	1	0	6	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20048.5	160	chr3	75737651	.	G	A	20048.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.25;DP=1124;ExcessHet=8.2628;FS=1.1;MLEAC=6;MLEAF=0.429;MQ=53.82;MQRankSum=-10.07;QD=19.95;ReadPosRankSum=-0.18;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,207:358:99:0|1:75737590_A_G:8237,0,5717:75737590	1	0	6	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18382.8	143	chr3	75737676	.	A	T	18382.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.66;DP=1052;ExcessHet=3.6764;FS=3.172;MLEAC=7;MLEAF=0.5;MQ=54.49;MQRankSum=-8.507;QD=19.7;ReadPosRankSum=-0.816;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,192:345:99:0|1:75737590_A_G:7601,0,5846:75737590	1	1	5	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	.	.	.	.	.	.	.	.	0.4286	5482.48	133	chr3	75737881	.	T	C	5482.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.344;DP=923;ExcessHet=8.2628;FS=16.594;MLEAC=6;MLEAF=0.429;MQ=58.05;MQRankSum=-5.768;QD=6.98;ReadPosRankSum=-3.256;SOR=1.294	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,84:251:99:0|1:75737881_T_C:2574,0,6535:75737881	1	0	6	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4137.44	128	chr3	75737891	.	G	GAAAT	4137.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.04;DP=874;ExcessHet=8.2628;FS=18.679;MLEAC=6;MLEAF=0.429;MQ=57.87;MQRankSum=-7.28;QD=5.55;ReadPosRankSum=-2.558;SOR=1.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,66:239:99:0|1:75737881_T_C:2112,0,7001:75737881	1	0	6	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4099.44	122	chr3	75737893	.	A	ACTT	4099.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.181;DP=856;ExcessHet=8.2628;FS=19.985;MLEAC=6;MLEAF=0.429;MQ=57.78;MQRankSum=-7.524;QD=5.65;ReadPosRankSum=-2.157;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,62:233:99:0|1:75737881_T_C:2032,0,6921:75737881	1	0	6	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	1141.66	74	chr3	75739165	.	C	T	1141.66	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.54;DP=575;ExcessHet=2.5225;FS=20.571;MLEAC=4;MLEAF=0.286;MQ=56.54;MQRankSum=-5.041;QD=3.23;ReadPosRankSum=-0.431;SOR=1.188	GT:AD:DP:GQ:PL	0/1:71,36:107:99:757,0,1888	3	0	4	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	2193.79	45	chr3	75739283	.	G	T	2193.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.377;DP=386;ExcessHet=6.1542;FS=4.771;MLEAC=5;MLEAF=0.417;MQ=54.1;MQRankSum=-3.42;QD=6.99;ReadPosRankSum=0.077;SOR=0.956	GT:AD:DP:GQ:PL	0/1:57,44:101:99:954,0,1481	1	0	5	1
chr3	88139596	88139596	C	T	exonic	ZNF654	.	nonsynonymous SNV	ZNF654:NM_001350135:exon6:c.C1588T:p.L530F,ZNF654:NM_001366096:exon6:c.C1291T:p.L431F,ZNF654:NM_001350136:exon7:c.C1291T:p.L431F,ZNF654:NM_001350137:exon7:c.C1105T:p.L369F,ZNF654:NM_001366093:exon7:c.C1291T:p.L431F,ZNF654:NM_001366095:exon7:c.C1291T:p.L431F,ZNF654:NM_001366097:exon7:c.C1105T:p.L369F,ZNF654:NM_001350134:exon8:c.C1927T:p.L643F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00297465771141	.	.	8.389e-06	0	0	0	0	0	0	6.126e-05	6.5e-06	1	154602	rs780834394	8.211e-06	8.209e-06	8.169e-06	8.253e-06	5.797e-05	4.38e-06	3.46e-06	2.194e-05	1.43e-05	0	0	0	0	7.493e-05	0	1.799e-06	1.657e-05	5.797e-05	6.573e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	9.42e-05	0	0	0	0	0.05	0.39575	D	0.088	0.40586	T	0.0	0.02946	B	0.0	0.01387	B	0.033943	0.01779	N	2.249070	1	0.08975	N	0.895	0.22405	L	2.81	0.10975	T	-1.56	0.37759	N	0.048	0.01999	-1.0088	0.27292	T	0.013	0.05273	T	10	0.057112783	0.06509	T	0.002975	0.06339	T	0.033	0.08068	0.289	0.24921	0.082315109003	0.07666	0.14317772073570484	0.14240	0.228792034998	0.25434	0.259793996811	0.04866	T	0.025304	0.18949	T	-0.375319	0.03333	T	-0.676266	0.07214	T	0.0889345513623763	0.11090	T	0.729627	0.34527	T	0.05165371	0.09519	0.07799161	0.17425	0.05165371	0.09519	0.07799161	0.17425	.	.	.	.	.	0.069	0.03093	B	.;.	.;.	0.301883	0.06776	3.293	0.85878481525863293	0.16170	0.08906	0.14763	N	AEFGBI	0.052883	0.09479	N	-1.3798055917633	0.02827	0.1254204	-1.3853673984307	0.03407	0.1588675	0.950111710923374	0.27879	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.14	-2.5	0.06015	-0.209000	0.09362	-0.115000	0.11785	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.074000	0.16894	0.2525:0.3102:0.2506:0.1867	0.949	0.01285	264	0.89640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1303.46	52	chr3	88139596	.	C	T	1303.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.459;DP=469;ExcessHet=0;FS=4.89;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.08;SOR=1.159	GT:AD:DP:GQ:PL	0/1:46,55:101:99:1314,0,1279	6	0	1	0
chr3	97872363	97872363	G	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G1169A:p.R390H	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409061443	1.156e-05	1.163e-05	1.284e-05	1.025e-05	5.597e-05	6.85e-06	5.54e-06	9.27e-06	5.89e-06	0	0	0	5.597e-05	0	0	1.298e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.02964	-0.9734	0.36474	T	0.069	0.28379	T	7	0.06773341	0.09478	T	.	.	.	.	.	0.241	0.17371	0.202949470691	0.19918	0.09166260811329309	0.09099	.	.	0.22244143486	0.01455	T	7.9E-4	0.00383	T	-0.32232	0.06709	T	-0.675586	0.07255	T	0.153352687518948	0.17368	T	0.660234	0.26930	T	0.037188437	0.04720	0.09363927	0.22126	0.037188437	0.04719	0.09363927	0.22125	-3.725	0.19688	T	.	.	0.095	0.15115	B	.	.	2.253315	0.28784	17.91	0.94131426572020904	0.24316	0.17508	0.19867	N	ALL	0.085477	0.17327	N	-0.688299071629739	0.16353	0.8324595	-0.646291625153599	0.18310	0.9775666	0.999999997471369	0.74766	0.780599	0.99702	0	0.588015	0.36545	0	0.618467	0.43123	0	0.600164	0.37192	1	.	.	5.96	4.08	0.46880	0.896000	0.28009	3.634000	0.39325	0.676000	0.76740	0.001000	0.13787	0.978000	0.30204	0.063000	0.16184	0.0862:0.1596:0.7542:0.0	9.189	0.36348	797	0.45241	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1863.44	35	chr3	97872363	.	G	A	1863.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.227;DP=413;ExcessHet=0;FS=1.371;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=2.1;SOR=0.564	GT:AD:DP:GQ:PL	0/1:59,75:134:99:1874,0,1404	6	0	1	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1231.26	57	chr3	98133456	.	ACCCC	A	1231.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.113;DP=454;ExcessHet=2.5225;FS=282.521;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=2;SOR=8.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,38:116:99:.:.:974,0,3086:.	5	0	2	0
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1231.31	57	chr3	98133460	.	C	CGGGG	1231.31	.	AC=1;AF=0.125;AN=8;DP=408;ExcessHet=3.1439;FS=240.928;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.34;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,14:105:99:.:.:715,0,3141:.	3	0	1	3
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	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	.	.	.	.	.	.	.	.	0.2143	1005.37	59	chr3	98133463	.	C	G	1005.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.869;DP=388;ExcessHet=1.1394;FS=181.558;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=5.29;ReadPosRankSum=1.84;SOR=7.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,14:103:99:.:.:721,0,3057:.	4	0	3	0
chr3	98283683	98283683	C	T	exonic	OR5H2	.	nonsynonymous SNV	OR5H2:NM_001005482:exon1:c.C796T:p.R266C	.	436	1066	18	2	0	22	0.0102136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0066	0.00379393	0.0063	0.0011	0.0067	0	0.0044	0.0077	0.0155	0.0072	0.0063389	980	154602	rs17787561	0.0073	0.0073	0.0072	0.0074	0.0113	0.0072	0.0072	0.0091	0.0083	0.0013	0.0078	0.0082	0	0.0069	0.0113	0.0077	0.0075	0.0074	0.0059	0.0059	0.0058	0.0060	0.0097	0.0056	0.0054	0.0084	0.0080	0.0015	0.0011	0.0097	0.0107	0.0002	0.0049	0.0136	0.0079	0.0114	0.0056	0.067	0.35918	T	0.053	0.47336	T	0.059	0.23051	B	0.024	0.20255	B	0.159738	0.17701	U	0.410613	1	0.08975	N	2.42	0.70002	M	1.29	0.35775	T	-3.22	0.64939	D	0.067	0.03956	-1.0152	0.25272	T	0.055	0.23186	T	10	0.008219928	0.00187	T	.	.	.	0.033	0.08068	.	.	0.366277470483	0.36239	0.10926526766360327	0.10855	0.0203041429472	0.01996	0.2047714293	0.00609	T	0.006162	0.05598	T	-0.589192	0.00170	T	-0.607433	0.12195	T	0.00985053846370298	0.00130	T	0.455554	0.13039	T	0.14295922	0.32877	0.11448131	0.27634	0.14295922	0.32877	0.11448131	0.27633	-7.856	0.60085	D	.	.	0.118	0.30713	B	.;.	.;.	1.805741	0.22947	15.83	0.75477644448646841	0.11090	0.02887	0.07671	N	AEFI	0.049293	0.08500	N	-1.11984821568533	0.06291	0.2891762	-1.25655528946903	0.05034	0.2389404	1.39399034786534E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.03	-1.07	0.09459	-0.032000	0.12217	.	.	-2.099000	0.00395	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1797:0.3604:0.0:0.4599	3.522	0.07302	756	0.51065	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	0.010574	0.025253	0.010870	0.005848	0.000000	0.017241	0.006098	0.007576	0.07143	1438.53	34	chr3	98283683	.	C	T	1438.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.64;DP=361;ExcessHet=0;FS=1.498;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-1.084;SOR=0.886	GT:AD:DP:GQ:PL	0/1:55,61:116:99:1449,0,1264	6	0	1	0
chr3	99848726	99848726	C	T	exonic	FILIP1L	.	nonsynonymous SNV	FILIP1L:NM_001282794:exon2:c.G2230A:p.A744T,FILIP1L:NM_014890:exon2:c.G2230A:p.A744T,FILIP1L:NM_001282793:exon3:c.G1678A:p.A560T,FILIP1L:NM_001370247:exon3:c.G2230A:p.A744T,FILIP1L:NM_001042459:exon5:c.G2950A:p.A984T,FILIP1L:NM_182909:exon5:c.G2950A:p.A984T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00613755088643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.722e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.07846	T	0.581	0.11335	T	0.001	0.11197	B	0.003	0.12992	B	0.002277	0.36887	N	0.121048	1	0.81001	D	1.935	0.51832	L	2.05	0.26737	T	-0.45	0.24460	N	0.074	0.09631	-1.0678	0.09903	T	0.044	0.18906	T	10	0.061981708	0.07856	T	0.006138	0.16082	T	0.048	0.13305	0.085	0.00830	0.231231049324	0.22751	0.3711789131971211	0.37031	0.0599924990014	0.06676	0.422872066498	0.28232	T	0.019522	0.15537	T	-0.258573	0.13068	T	-0.609198	0.12050	T	0.274727652270494	0.23948	T	0.753825	0.42297	T	0.035471987	0.04181	0.052282434	0.08582	0.035471987	0.04181	0.052282434	0.08581	-3.626	0.22948	T	.	.	0.070	0.03336	B	.;.;.;.;.;.	.;.;.;.;.;.	2.260521	0.28881	17.94	0.83803713707682026	0.14928	0.76643	0.37606	D	AEFBCI	0.233653	0.35654	N	-0.237294562157724	0.31613	1.774431	-0.0493580221508901	0.37519	2.197808	0.999999748427209	0.74766	0.706548	0.73137	0	0.624146	0.53433	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	6.17	4.4	0.52402	2.129000	0.41677	3.369000	0.37918	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1408:0.7175:0.0:0.1417	7.701	0.27789	444	0.79803	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	3478.53	33	chr3	99848726	.	C	T	3478.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.877;DP=441;ExcessHet=0;FS=6.8;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.07;SOR=1.067	GT:AD:DP:GQ:PL	0/1:119,138:257:99:3489,0,3102	6	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	663.23	21	chr3	100775333	.	T	C	663.23	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.389;DP=165;ExcessHet=3.1439;FS=142.707;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=5.67;ReadPosRankSum=1.34;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,11:25:99:0|1:100775333_T_C:170,0,177:100775333	2	0	4	1
chr3	121233639	121233639	G	A	exonic	STXBP5L	.	nonsynonymous SNV	STXBP5L:NM_001308330:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348343:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348344:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348345:exon12:c.G1135A:p.V379M,STXBP5L:NM_014980:exon12:c.G1135A:p.V379M	.	487	1026	7	2	0	11	0.00533204	.	.	.	622325	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.237	0.0206573945077	0.0063	0.00339457	0.0057	0.0015	0.0012	0.0001	0.0017	0.0092	0.0011	0.0022	0.0057438	888	154602	rs61996323	0.0078	0.0079	0.0080	0.0077	0.0093	0.0077	0.0077	0.0092	0.0091	0.0018	0.0021	0.0051	2.529e-05	0.0029	0.0077	0.0093	0.0065	0.0023	0.0054	0.0054	0.0056	0.0053	0.0092	0.0051	0.0050	0.0086	0.0084	0.0017	0	0.0039	0.0049	0	0.0025	0.0136	0.0092	0.0071	0.0017	0.022	0.48642	D	0.012	0.65728	D	0.962	0.59675	D	0.713	0.54860	P	0.000190	0.48115	D	0.138974	0.99901	0.45878	D	2.405	0.69568	M	1.43	0.50192	T	-2.27	0.52289	N	0.646	0.65758	-0.8568	0.51491	T	0.150	0.47699	T	10	0.010139585	0.00227	T	0.020657	0.43298	T	0.237	0.54074	.	.	0.321697908245	0.31786	0.5965482819491511	0.59584	0.618235351031	0.56224	0.521119534969	0.41783	T	0.057566	0.30601	T	-0.346112	0.04975	T	-0.260547	0.48770	T	0.0327383321700659	0.02429	T	0.966703	0.87848	D	0.14155143	0.32612	0.19203654	0.42695	0.14155143	0.32611	0.19203654	0.42694	-9.446	0.70523	D	.	.	0.376	0.61260	A	.;.;.;.;.;.	.;.;.;.;.;.	4.892045	0.80333	27.3	0.99630955753262607	0.76020	0.98847	0.87641	D	AEFI	0.844599	0.76155	D	0.500994704409624	0.67147	5.043283	0.455697244047954	0.65083	4.779137	0.998650680048234	0.37392	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	9.449000	0.96765	9.910000	0.82419	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	17.167	0.86698	292	0.88363	Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.000000	0.008152	0.014706	0.000000	0.008621	0.009146	0.003788	0.07143	879.45	25	chr3	121233639	.	G	A	879.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.821;SOR=0.741	GT:AD:DP:GQ:PL	0/1:29,34:63:99:890,0,580	6	0	1	0
chr3	121623210	121623210	C	G	exonic	FBXO40	.	nonsynonymous SNV	FBXO40:NM_016298:exon3:c.C1781G:p.A594G	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0101549590349	0.0017	0.00179712	0.0025	0.0002	0.0020	0	0.0017	0.0026	0.0033	0.0053	0.0022962	355	154602	rs34348750	0.0021	0.0021	0.0019	0.0023	0.0055	0.0020	0.0020	0.0051	0.0049	0.0002	0.0019	0.0021	0	0.0009	0.0033	0.0020	0.0022	0.0055	0.0019	0.0019	0.0020	0.0019	0.0037	0.0017	0.0017	0.0025	0.0024	0.0003	0	0.0024	0.0032	0	0.0013	0.0068	0.0029	0.0014	0.0037	0.158	0.23905	T	0.392	0.15406	T	0.073	0.24078	B	0.053	0.25678	B	0.000510	0.43753	D	0.271338	0.998003	0.22400	N	0.69	0.16971	N	0.44	0.56609	T	-1.32	0.32991	N	0.189	0.20660	-1.0455	0.15680	T	0.083	0.32499	T	10	0.011829704	0.00257	T	0.010155	0.26346	T	0.068	0.19811	.	.	0.533614126537	0.53011	0.17950616409404924	0.17869	0.109903713924	0.12392	0.356257736683	0.18839	T	0.046364	0.27401	T	-0.459409	0.00991	T	-0.430351	0.29896	T	0.0119365933780143	0.00187	T	0.805019	0.45286	T	0.15081854	0.34315	0.16834821	0.38787	0.15081854	0.34315	0.16834821	0.38786	-3.499	0.16417	T	.	.	0.115	0.22933	B	.	.	3.233007	0.44098	21.9	0.98749621159737777	0.45633	0.90573	0.51861	D	AEFBI	0.394309	0.47161	N	-0.233426551555821	0.31770	1.784788	0.00521576341590405	0.39957	2.377074	0.0451503442785444	0.14640	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.16	5.28	0.74118	3.229000	0.50979	5.060000	0.47078	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.7036:0.2963:0.0	13.646	0.61759	354	0.85282	F-box domain|F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.010101	0.005435	0.005848	0.000000	0.017241	0.006098	0.000000	0.07143	1185.63	37	chr3	121623210	.	C	G	1185.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.449;DP=263;ExcessHet=0;FS=4.41;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=0.358;SOR=1.23	GT:AD:DP:GQ:PL	0/1:34,44:78:99:1196,0,835	6	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	131.31	80	chr3	121697608	.	C	T	131.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.544;DP=478;ExcessHet=2.5225;FS=222.92;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.07;SOR=10.1	GT:AD:DP:GQ:PL	0/1:60,19:88:24:24,0,1216	2	0	4	1
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	811.28	32	chr3	128055734	.	T	C	811.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.855;DP=354;ExcessHet=8.2628;FS=216.11;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.38;ReadPosRankSum=0.211;SOR=8.983	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,14:64:99:0|1:128055734_T_C:116,0,1066:128055734	1	0	6	0
chr3	129431542	129431542	C	G	exonic	MBD4	.	nonsynonymous SNV	MBD4:NM_001276273:exon7:c.G748C:p.D250H,MBD4:NM_001276270:exon8:c.G1684C:p.D562H,MBD4:NM_003925:exon8:c.G1702C:p.D568H	.	424	1065	32	1	0	34	0.0157116	.	.	.	215269	not_specified|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	.	0.0044	0.00419329	0.0054	0.0012	0.0041	0	0.0005	0.0062	0.0110	0.0101	0.001022	158	154602	rs2307293	0.0074	0.0074	0.0072	0.0076	0.0110	0.0073	0.0072	0.0104	0.0102	0.0013	0.0034	0.0083	2.521e-05	0.0005	0.0068	0.0080	0.0078	0.0110	0.0052	0.0052	0.0056	0.0049	0.0118	0.0049	0.0048	0.0094	0.0085	0.0011	0.0307	0.0048	0.0104	0.0002	0.0005	0.0068	0.0078	0.0085	0.0118	0.005	0.68238	D	0.03	0.54159	D	0.997	0.73220	D	0.957	0.75793	D	0.000069	0.52346	D	0.164390	0.963902	0.81001	D	1.905	0.50856	L	0.98	0.42122	T	-3.18	0.75456	D	0.178	0.39254	-0.7362	0.58647	T	0.131	0.44129	T	10	0.009672582	0.00218	T	.	.	.	0.178	0.44724	.	.	0.458283960492	0.45451	0.7266496205129804	0.72608	0.54536870506	0.51572	0.430127859116	0.29226	T	0.518784	0.83131	D	-0.37689	0.03259	T	-0.306477	0.44037	T	0.0162388160515095	0.00397	T	0.922508	0.71813	D	0.60559386	0.72992	0.42838448	0.66553	0.60559386	0.72993	0.42838448	0.66554	-10.301	0.75694	D	.	.	0.393	0.59160	A	.;.;.	.;.;.	4.924803	0.81138	27.5	0.99247647619537593	0.56759	0.92127	0.55004	D	AEFBI	0.304100	0.41189	N	0.282336914429471	0.55252	3.689473	0.270801018861921	0.53840	3.551252	0.999733706754032	0.42341	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	4.25	0.49658	1.404000	0.34232	7.647000	0.63496	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7638:0.0:0.2362	8.707	0.33524	442	0.79946	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.000000	0.000000	0.008621	0.015244	0.011364	0.07143	702.83	34	chr3	129431542	.	C	G	702.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.262;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-1.107;SOR=0.706	GT:AD:DP:GQ:PL	0/1:36,32:68:99:713,0,917	6	0	1	0
chr3	129532755	129532755	A	T	exonic	RHO	.	nonsynonymous SNV	RHO:NM_000539:exon4:c.A919T:p.I307F	Night blindness, congenital stationary, autosomal dominant 1;Retinitis pigmentosa 4, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1037321	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.323	0.0766670746209	.	.	0.0003	0	0.0002	0	0	0	0	0.0021	0.0002329	36	154602	rs771322615	0.0001	0.0001	7.351e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0016	0	2.236e-05	0	0	0	0	8.993e-07	0.0003	0.0019	3.285e-05	3.283e-05	1.284e-05	5.38e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.315	0.90654	M	1.18	0.37746	T	-2.54	0.55025	D	0.827	0.82257	-0.5753	0.65804	T	0.241	0.60917	T	10	0.36479735	0.53016	T	0.076667	0.72587	D	0.323	0.64522	0.457	0.52265	0.983232311567	0.98304	0.8360113405019647	0.83561	1.09375067789	0.77517	0.644335389137	0.59180	T	0.71175	0.91783	D	-0.071553	0.41076	T	0.117179	0.78048	D	0.270170502044502	0.23755	T	0.974353	0.90870	D	0.93528515	0.94769	0.91277546	0.95886	0.93528515	0.94769	0.91277546	0.95886	-10.867	0.78923	D	0.32443642075318635	0.42259	0.637	0.70410	P	.	.	4.546791	0.71521	25.7	0.988731259158942	0.47684	0.96676	0.70347	D	AEFBI	0.704849	0.66043	D	0.770782483069856	0.84252	8.235766	0.744092070563642	0.85715	8.664014	0.999996863618545	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.67	5.67	0.87673	6.077000	0.70910	9.373000	0.80461	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.924	0.79384	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1763.44	42	chr3	129532755	.	A	T	1763.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.936;DP=333;ExcessHet=0;FS=0.634;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.28;SOR=0.594	GT:AD:DP:GQ:PL	0/1:67,72:139:99:1774,0,1594	6	0	1	0
chr3	129977164	129977164	G	A	exonic	TRH	.	nonsynonymous SNV	TRH:NM_007117:exon3:c.G677A:p.R226Q	Thyrotropin-releasing hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0205016763121	0.0004	.	0.0002	0.0005	0	0	0	0.0002	0	0.0003	0.0001294	20	154602	rs149654673	5.764e-05	5.815e-05	5.299e-05	6.248e-05	0.0008	4.704e-05	4.354e-05	0.0003	0.0002	9.927e-05	0	0	0	0	0.0008	4.205e-05	0.0002	0.0002	9.2e-05	9.193e-05	7.707e-05	0.0001	0.0003	5.528e-05	4.365e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	1.47e-05	0	0.0002	0.05	0.39575	D	0.078	0.42794	T	0.031	0.20130	B	0.005	0.11217	B	0.000286	0.46274	D	0.139469	0.735581	0.33766	D	1.53	0.38800	L	0.42	0.56937	T	-2.77	0.58733	D	0.136	0.14196	-0.9370	0.43088	T	0.099	0.36932	T	10	0.10128024	0.18495	T	0.020502	0.43107	T	0.221	0.51721	.	.	0.591436515814	0.58820	0.1247423405024329	0.12400	0.107529319556	0.12131	0.461057066917	0.33456	T	0.81531	0.95427	D	-0.309848	0.07762	T	-0.366696	0.37276	T	0.0329615629146756	0.02465	T	0.711729	0.32279	T	0.075190924	0.16924	0.116949216	0.28232	0.075190924	0.16924	0.116949216	0.28231	-10.609	0.77471	D	.	.	0.145	0.33319	B	.;.	.;.	2.299649	0.29424	18.12	0.97572301437971765	0.34686	0.65808	0.32862	D	AEFDBI	0.132996	0.25250	N	-0.593608875588521	0.19137	0.9992728	-0.491083452671393	0.22398	1.21636	0.945861826258527	0.27680	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	4.34	3.47	0.38831	1.279000	0.32796	1.640000	0.27787	-0.202000	0.08738	0.988000	0.36536	0.997000	0.33255	0.073000	0.16832	0.1093:0.0:0.8907:0.0	8.708	0.33529	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1063.46	48	chr3	129977164	.	G	A	1063.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.061;DP=369;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.645;SOR=0.73	GT:AD:DP:GQ:PL	0/1:37,44:81:99:1074,0,863	6	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	.	.	.	.	.	.	.	.	0.5	1108.37	12	chr3	130421335	.	G	A	1108.37	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.486;DP=262;ExcessHet=4.1913;FS=286.714;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=5.46;ReadPosRankSum=0.879;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,15:53:99:0|1:130421334_G_A:287,0,1394:130421334	0	0	4	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1150.39	14	chr3	130421337	.	T	C	1150.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=0.181;DP=257;ExcessHet=4.1913;FS=293.182;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=5.28;ReadPosRankSum=0.977;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,15:53:99:0|1:130421334_G_A:287,0,1394:130421334	0	0	4	3
chr3	130967212	130967212	A	G	exonic	ATP2C1	.	nonsynonymous SNV	ATP2C1:NM_001199182:exon13:c.A1175G:p.Y392C,ATP2C1:NM_001199180:exon14:c.A1292G:p.Y431C,ATP2C1:NM_001199181:exon14:c.A1292G:p.Y431C,ATP2C1:NM_001199183:exon14:c.A1142G:p.Y381C,ATP2C1:NM_001199184:exon14:c.A1142G:p.Y381C,ATP2C1:NM_001199185:exon14:c.A1190G:p.Y397C,ATP2C1:NM_001378511:exon14:c.A1292G:p.Y431C,ATP2C1:NM_001378514:exon14:c.A1142G:p.Y381C,ATP2C1:NM_014382:exon14:c.A1190G:p.Y397C,ATP2C1:NM_001001485:exon15:c.A1190G:p.Y397C,ATP2C1:NM_001001486:exon15:c.A1190G:p.Y397C,ATP2C1:NM_001001487:exon15:c.A1190G:p.Y397C,ATP2C1:NM_001199179:exon15:c.A1190G:p.Y397C,ATP2C1:NM_001378512:exon15:c.A1190G:p.Y397C,ATP2C1:NM_001378513:exon15:c.A1190G:p.Y397C,ATP2C1:NM_001378687:exon15:c.A1190G:p.Y397C	Hailey-Hailey disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2446355	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.0698917183946	7.7e-05	.	5.766e-05	0	0	0	0.0002	5.994e-05	0	0.0001	4.53e-05	7	154602	rs369250519	5.337e-05	5.336e-05	4.493e-05	6.189e-05	0.0002	4.345e-05	4.018e-05	0.0001	0.0001	5.976e-05	2.236e-05	0	5.041e-05	0.0001	0	3.598e-05	9.938e-05	0.0002	3.286e-05	3.284e-05	3.854e-05	2.691e-05	4.825e-05	1.261e-05	7.98e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	9.425e-05	0	2.94e-05	0	0	0.177	0.22400	T	0.086	0.42436	T	0.0	0.02946	B	0.001	0.04355	B	0.043590	0.23724	N	0.479652	0.658275	0.33027	D	0.925	0.23481	L	-2.97	0.92613	D	0.49	0.02993	N	0.25	0.42247	-0.1371	0.79236	T	0.513	0.81710	D	10	0.16214788	0.30397	T	0.069892	0.70854	D	0.322	0.64420	.	.	0.783050754616	0.78104	0.39847061094616015	0.39762	.	.	0.427271783352	0.28835	T	0.268316	0.74768	T	-0.0947554	0.37290	T	-0.0995864	0.63430	T	0.530708789825439	0.33760	D	0.90041	0.65400	D	0.072442204	0.16115	0.08607318	0.19918	0.072442204	0.16115	0.08607318	0.19918	-2.643	0.08759	T	0.09317647738045433	0.06101	0.055	0.11414	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.100542	0.41782	21.4	0.97277604989150868	0.33167	0.91470	0.53599	D	AEFBI	0.641075	0.61854	D	-0.257514836969515	0.30804	1.721085	-0.0589134654680089	0.37108	2.168269	0.999587729056699	0.40607	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.4	4.25	0.49658	4.605000	0.60825	6.187000	0.54715	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.8499:0.0:0.1501:0.0	8.466	0.32117	618	0.66225	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1478.45	34	chr3	130967212	.	A	G	1478.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.49;DP=323;ExcessHet=0;FS=0.643;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.364;SOR=0.604	GT:AD:DP:GQ:PL	0/1:79,59:138:99:1489,0,1916	6	0	1	0
chr3	132475002	132475002	C	G	exonic	DNAJC13	.	nonsynonymous SNV	DNAJC13:NM_015268:exon22:c.C2362G:p.L788V,DNAJC13:NM_001329126:exon23:c.C2377G:p.L793V	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0253801116622	.	.	4.122e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs779730514	2.945e-05	2.941e-05	1.09e-05	4.818e-05	0.0005	2.219e-05	1.972e-05	0.0004	0.0003	0	0	0	0	0	0.0005	0	0	0.0005	6.574e-06	6.564e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.044	0.41096	D	0.016	0.60972	D	0.993	0.65571	D	0.987	0.77487	D	0.000002	0.62929	D	0.000000	0.999995	0.58761	D	2.54	0.74080	M	1.19	0.37578	T	-2.01	0.46337	N	0.844	0.83987	-0.7696	0.56879	T	0.192	0.54418	T	10	0.6665257	0.70459	D	0.02538	0.48351	D	0.183	0.45592	0.359	0.36222	0.47552262612	0.47182	0.7518557088635859	0.75132	0.743094374649	0.63370	0.558649003506	0.47078	T	0.087277	0.37908	T	-0.0069553	0.50692	T	0.048425	0.73480	D	0.408829063177109	0.29274	T	0.972478	0.90093	D	0.23415124	0.46231	0.16475587	0.38150	0.23415124	0.46231	0.16475587	0.38149	-9.141	0.68600	D	.	.	0.250	0.48500	B	.	.	4.114030	0.61441	24.3	0.99834145109908701	0.91542	0.92688	0.56304	D	AEFBCI	0.684912	0.64710	D	0.615072051093276	0.74125	6.080205	0.587037694981738	0.74008	6.064883	0.999418729768405	0.39577	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.59	4.7	0.58776	4.615000	0.60893	5.984000	0.52218	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.857:0.0:0.143	11.824	0.51530	818	0.41518	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	780.44	36	chr3	132475002	.	C	G	780.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.723;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=1.32;SOR=0.643	GT:AD:DP:GQ:PL	0/1:25,33:58:99:791,0,525	6	0	1	0
chr3	132523636	132523636	G	C	exonic	DNAJC13	.	nonsynonymous SNV	DNAJC13:NM_015268:exon51:c.G5983C:p.V1995L,DNAJC13:NM_001329126:exon52:c.G5998C:p.V2000L	.	433	1074	14	1	0	16	0.00739372	.	.	.	720185	DNAJC13-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.191	0.0177829837758	0.0008	0.00159744	0.0012	0.0002	0.0009	0	0	0.0011	0.0022	0.0031	0.0011384	176	154602	rs10935014	0.0011	0.0011	0.0011	0.0012	0.0036	0.0011	0.0011	0.0033	0.0032	0.0001	0.0008	3.827e-05	0	0.0001	0.0029	0.0011	0.0012	0.0036	0.0007	0.0007	0.0007	0.0008	0.0023	0.0006	0.0006	0.0013	0.0010	0.0002	0	0.0003	0	0	0	0	0.0013	0.0014	0.0023	0.07	0.35349	T	0.105	0.38016	T	0.977	0.58535	D	0.831	0.59664	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.005	0.54552	M	2.26	0.17596	T	-1.3	0.32590	N	0.667	0.67564	-1.0531	0.13547	T	0.106	0.38783	T	10	0.017344773	0.00370	T	0.017783	0.39611	T	0.191	0.46948	.	.	0.279809986126	0.27602	0.4863937084219763	0.48559	0.309458645241	0.33251	0.756789684296	0.75452	T	0.037675	0.24563	T	-0.301645	0.08506	T	-0.209119	0.53780	T	0.0582460047692246	0.06889	T	0.972803	0.90184	D	0.2366842	0.46522	0.24917133	0.50482	0.2366842	0.46522	0.24917133	0.50481	-5.351	0.40445	T	.	.	0.781	0.76403	P	.	.	4.750447	0.76703	26.6	0.99335655598009953	0.59973	0.99101	0.91240	D	AEFBI	0.891315	0.82717	D	0.789709345495024	0.85456	8.581847	0.786110848288718	0.88809	9.724582	0.999999999994207	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	9.045000	0.93277	9.881000	0.82199	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.219	0.93775	824	0.40336	.	.	.	.	.	.	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	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.07143	565.46	33	chr3	132523636	.	G	C	565.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.36;DP=219;ExcessHet=0;FS=5.885;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.491;SOR=0.712	GT:AD:DP:GQ:PL	0/1:26,23:49:99:576,0,615	6	0	1	0
chr3	132619490	132619490	G	C	exonic	ACAD11	.	nonsynonymous SNV	ACAD11:NM_032169:exon10:c.C1253G:p.P418R	.	527	990	4	1	0	6	0.00302115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735	.	0.0003	0.00259585	0.0019	9.69e-05	0.0010	0	0	0.0006	0.0056	0.0101	0.0016753	259	154602	rs148899232	0.0008	0.0009	0.0005	0.0010	0.0106	0.0008	0.0007	0.0084	0.0077	0.0004	0.0011	0.0008	2.592e-05	0	0.0106	0.0002	0.0013	0.0082	0.0008	0.0008	0.0005	0.0012	0.0100	0.0007	0.0007	0.0077	0.0069	0.0001	0	0.0023	0.0003	0	0	0.0102	0.0005	0.0014	0.0100	0.087	0.43085	T	0.109	0.37449	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999913	0.81001	D	3.43	0.92015	M	-6.42	0.99687	D	-4.2	0.75695	D	0.72	0.72209	1.049	0.98105	D	0.985	0.99561	D	9	0.00976187	0.00219	T	.	.	.	0.735	0.90764	.	.	0.987481040417	0.98734	0.7004209777693364	0.69983	0.641984679815	0.57776	.	.	.	0.62002	0.88076	D	0.0493975	0.58265	T	0.302745	0.88321	D	0.159044825812494	0.17801	T	0.765923	0.39447	T	0.6625053	0.76033	0.6638716	0.80295	0.6625053	0.76034	0.6638716	0.80296	-7.753	0.59375	D	.	.	0.372	0.64449	A	.;.	.;.	4.374519	0.67375	25.1	0.99674530769926195	0.78846	0.93991	0.59785	D	AEFGBI	0.620963	0.60583	D	0.616820060762509	0.74236	6.098817	0.583016148027399	0.73721	6.017323	0.985536609772924	0.30904	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.92	0.64147	5.228000	0.65139	9.890000	0.82266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8558:0.1442	14.945	0.70675	845	0.36510	Acyl-CoA dehydrogenase/oxidase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.012085	0.015152	0.006793	0.020468	0.000000	0.008621	0.015244	0.018939	0.07143	567.63	33	chr3	132619490	.	G	C	567.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.02;DP=234;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-1.195;SOR=0.551	GT:AD:DP:GQ:PL	0/1:33,28:61:99:578,0,707	6	0	1	0
chr3	138684790	138684790	T	C	exonic	PIK3CB	.	nonsynonymous SNV	PIK3CB:NM_001256045:exon6:c.A686G:p.N229S,PIK3CB:NM_006219:exon17:c.A2150G:p.N717S	.	426	1083	12	1	0	14	0.00642202	.	.	.	720210	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.092	0.0159663619193	0.0007	0.00119808	0.0017	0.0003	0.0010	0	0	0.0013	0.0034	0.0060	0.0014295	221	154602	rs74701669	0.0011	0.0011	0.0009	0.0013	0.0094	0.0011	0.0010	0.0074	0.0067	0.0005	0.0013	0.0095	2.52e-05	1.873e-05	0.0094	0.0006	0.0020	0.0053	0.0010	0.0010	0.0009	0.0011	0.0046	0.0009	0.0008	0.0031	0.0026	0.0003	0	0.0010	0.0127	0	0	0.0102	0.0008	0.0019	0.0046	0.681	0.09776	T	0.487	0.11656	T	0.007	0.14184	B	0.013	0.16460	B	0.000000	0.84330	D	0.055008	0.999995	0.58761	D	1.2	0.30300	L	-1.4	0.80474	T	-1.23	0.37759	N	0.116	0.10483	-0.6587	0.62333	T	0.300	0.67157	T	10	0.009204358	0.00208	T	0.015966	0.36990	T	0.294	0.61388	.	.	0.382607109125	0.37878	0.062173149661151304	0.06157	0.395795623971	0.40707	0.562058925629	0.47558	T	0.381113	0.74350	T	-0.471124	0.00836	T	-0.447871	0.27933	T	0.0133927743567062	0.00242	T	0.746125	0.53946	T	0.16062127	0.36015	0.23222423	0.48377	0.16062127	0.36014	0.23222423	0.48376	-7.197	0.55460	T	.	.	0.068	0.04806	B	.;.;.	.;.;.	2.383321	0.30594	18.49	0.93789062271410251	0.23751	0.90529	0.51780	D	AEFBI	0.317922	0.42178	N	-0.238463717294922	0.31567	1.771306	-0.00289457022091924	0.39586	2.349295	0.999999331985756	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.78	5.78	0.91418	1.947000	0.39919	6.176000	0.54561	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.099	0.80961	868	0.31772	PI3Kbeta, catalytic domain;PI3Kbeta, catalytic domain;PI3Kbeta, 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	0.009577	0.010101	0.005435	0.017544	0.050000	0.008621	0.012270	0.015152	0.07143	197.54	17	chr3	138684790	.	T	C	197.54	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.87;DP=130;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.81;ReadPosRankSum=0.538;SOR=0.61	GT:AD:DP:GQ:PL	0/1:21,8:29:99:208,0,482	6	0	1	0
chr3	141580380	141580380	A	G	exonic	RASA2	.	nonsynonymous SNV	RASA2:NM_001303245:exon16:c.A1603G:p.I535V,RASA2:NM_001303246:exon16:c.A1603G:p.I535V,RASA2:NM_006506:exon16:c.A1603G:p.I535V	.	438	1057	25	2	0	29	0.0135324	.	.	.	246938	RASA2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.251	.	0.0022	0.00119808	0.0039	9.837e-05	0.0036	0	0.0068	0.0052	0.0121	0.0013	0.0035122	543	154602	rs143035190	0.0028	0.0029	0.0028	0.0029	0.0097	0.0028	0.0027	0.0076	0.0068	0.0002	0.0024	0.0338	0	0.0065	0.0097	0.0021	0.0050	0.0012	0.0028	0.0028	0.0028	0.0028	0.0032	0.0026	0.0025	0.0029	0.0027	0.0001	0	0.0014	0.0317	0	0.0046	0.0136	0.0032	0.0057	0.0004	0.189	0.21224	T	0.287	0.21210	T	.	.	.	.	.	.	0.000486	0.43931	N	0.192775	0.99925	0.21461	N	-1.355	0.00654	N	-1.21	0.78645	T	0.14	0.05706	N	0.05	0.02861	-0.9520	0.40625	T	0.141	0.46016	T	10	0.009313822	0.00210	T	.	.	.	0.251	0.56024	.	.	0.720834276433	0.71837	0.08512166970597988	0.08446	0.28735955413	0.31136	0.356781840324	0.18916	T	0.225418	0.59015	T	-0.497724	0.00589	T	-0.489828	0.23409	T	0.0138142579679833	0.00261	T	0.562444	0.19755	T	.	.	.	.	.	.	.	.	-5.653	0.43273	T	.	.	0.056	0.01075	B	.;.	.;.	0.843316	0.12154	8.700	0.92652581233964948	0.22130	0.86766	0.46118	D	AEBI	0.228217	0.35192	N	-0.569564428806848	0.19873	1.043557	-0.368714823586407	0.25935	1.429393	0.999565081267367	0.40425	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.71	0.78	0.17701	1.225000	0.32154	0.714000	0.20960	-0.055000	0.16736	1.000000	0.71638	0.934000	0.28616	0.997000	0.79791	0.418:0.0:0.336:0.246	4.306	0.10392	744	0.52588	.;Ras GTPase-activating domain|Ras GTPase-activating domain|Ras GTPase-activating 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	0.008569	0.010101	0.012228	0.005848	0.050000	0.017241	0.006135	0.000000	0.07143	522.46	27	chr3	141580380	.	A	G	522.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.227;DP=207;ExcessHet=0;FS=1.216;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.483;SOR=0.986	GT:AD:DP:GQ:PL	0/1:20,21:41:99:533,0,472	6	0	1	0
chr3	151294524	151294524	A	G	exonic	GPR87	.	nonsynonymous SNV	GPR87:NM_023915:exon3:c.T722C:p.I241T	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0110521263515	.	0.000199681	0.0002	0	8.655e-05	0	0	0	0	0.0012	0.0001358	21	154602	rs540566684	7.251e-05	7.251e-05	2.178e-05	0.0001	0.0012	6.114e-05	5.699e-05	0.0010	0.0009	0	0	0	0	0	0	8.993e-07	4.967e-05	0.0012	4.595e-05	4.593e-05	1.285e-05	8.056e-05	0.0015	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.491	0.07969	T	0.388	0.15602	T	0.081	0.24602	B	0.089	0.29769	B	0.002210	0.37012	N	0.262452	0.974419	0.39103	D	0.46	0.12951	N	1.29	0.35775	T	1.11	0.01213	N	0.387	0.42834	-1.0444	0.16000	T	0.070	0.28642	T	10	0.024006069	0.00646	T	0.011052	0.28270	T	0.051	0.14325	0.352	0.35084	0.299770980665	0.29595	0.40038839274758936	0.39953	0.107033212808	0.12085	0.597344994545	0.52529	T	0.007012	0.06432	T	-0.41384	0.01875	T	-0.431984	0.29710	T	0.0802292603126343	0.10017	T	0.813119	0.46553	T	0.086067736	0.19991	0.13502066	0.32339	0.086067736	0.19990	0.13502066	0.32338	-2.363	0.04911	T	.	.	0.292	0.52376	B	.	.	2.841582	0.37494	20.5	0.97402063897477587	0.33780	0.91020	0.52704	D	AEFBI	0.256425	0.37535	N	-0.160426729813397	0.34793	1.990273	0.0230424908087379	0.40786	2.439794	0.999975352390933	0.50053	0.486886	0.10167	0	0.586423	0.34054	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.45	5.45	0.79688	4.630000	0.60995	11.190000	0.88630	0.750000	0.87069	0.988000	0.36536	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	15.478	0.75228	807	0.43470	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	.	.	.	.	.	.	.	.	0.07143	3172.44	58	chr3	151294524	.	A	G	3172.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.233;DP=628;ExcessHet=0;FS=7.254;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.493;SOR=1.107	GT:AD:DP:GQ:PL	0/1:108,124:232:99:3183,0,2736	6	0	1	0
chr3	151445827	151445827	G	C	exonic	IGSF10	.	stopgain	IGSF10:NM_001385061:exon5:c.C4154G:p.S1385X,IGSF10:NM_001385060:exon6:c.C4154G:p.S1385X,IGSF10:NM_178822:exon6:c.C4154G:p.S1385X,IGSF10:NM_001385062:exon7:c.C4154G:p.S1385X,IGSF10:NM_001385063:exon7:c.C4154G:p.S1385X	.	425	1096	1	0	0	1	0.000455996	.	.	.	3518012	IGSF10-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0011	0.0001164	18	154602	rs770578800	7.251e-05	7.251e-05	2.042e-05	0.0001	0.0012	6.114e-05	5.699e-05	0.0010	0.0009	0	0	0	0	0	0	0	4.967e-05	0.0012	3.939e-05	3.937e-05	1.285e-05	6.712e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	6.533e-05	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.411504	0.04594	N	1.455400	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0812892	0.62192	D	0.279235	0.87083	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.322526	0.95013	34	0.98676036382946131	0.44539	0.15335	0.18861	N	AEFDBI	0.060646	0.11540	N	0.103923432569624	0.46644	2.90174	-0.230491063214677	0.30449	1.714542	0.999771979132948	0.42865	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.478617	0.07155	0	.	.	5.34	2.1	0.26226	1.148000	0.31226	2.652000	0.33822	0.618000	0.50648	0.001000	0.13787	0.086000	0.22461	0.008000	0.08271	0.3184:0.0:0.6816:0.0	8.806	0.34095	813	0.42397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	2422.45	33	chr3	151445827	.	G	C	2422.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.141;DP=359;ExcessHet=0;FS=7.596;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-1.249;SOR=0.947	GT:AD:DP:GQ:PL	0/1:84,92:176:99:2433,0,2387	6	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	.	.	.	.	.	.	.	.	0.2857	1059.78	58	chr3	155853645	.	G	C	1059.78	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.254;DP=580;ExcessHet=8.2628;FS=227.99;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.61;SOR=9.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,22:117:99:.:.:220,0,2858:.	3	0	4	0
chr3	157381264	157381264	G	T	exonic	VEPH1	.	stopgain	VEPH1:NM_001167911:exon7:c.C1019A:p.S340X,VEPH1:NM_001167912:exon7:c.C1019A:p.S340X,VEPH1:NM_024621:exon7:c.C1019A:p.S340X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077056	0.21127	N	0.536026	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.212	0.25499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522349	0.94964	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;Recessive	.;High;High	7.907146	0.96979	36	0.99560495909816416	0.71769	0.77190	0.37926	D	AEFDBI	0.202413	0.32901	N	0.528693511246085	0.68793	5.266472	0.35345361814106	0.58716	4.043839	0.974007135570526	0.29504	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.29	3.46	0.38718	1.002000	0.29397	7.297000	0.58075	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.902000	0.43815	0.0:0.5502:0.4498:0.0	15.561	0.75984	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	128.93	34	chr3	157381264	.	G	T	128.93	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-8.278;DP=381;ExcessHet=0;FS=73.67;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=1.92;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,24:189:99:0|1:157381264_G_T:139,0,6704:157381264	6	0	1	0
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C,VEPH1:NM_001167912:exon7:c.C1016G:p.S339C,VEPH1:NM_024621:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	129.32	106	chr3	157381267	.	G	C	129.32	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-4.274;DP=817;ExcessHet=0.4139;FS=134.977;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.87;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,24:190:99:0|1:157381264_G_T:136,0,6780:157381264	2	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	.	.	.	.	.	.	.	.	0.1	236.14	110	chr3	157381269	.	G	C	236.14	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-5.453;DP=818;ExcessHet=0.4139;FS=134.905;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=1.96;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,24:189:99:0|1:157381264_G_T:139,0,6772:157381264	4	0	1	2
chr3	157381273	157381273	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1010G:p.T337S,VEPH1:NM_001167912:exon7:c.C1010G:p.T337S,VEPH1:NM_024621:exon7:c.C1010G:p.T337S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00350531858902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.747e-05	0.0022	5.293e-05	4.212e-05	5.704e-05	3.724e-05	3.405e-05	4.408e-05	3.984e-05	3.467e-05	0	0	0	1.905e-05	0	5.704e-05	7.641e-05	1.223e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.09458	T	0.224	0.25907	T	0.001	0.07471	B	0.004	0.10090	B	0.068245	0.21685	N	0.513806	0.999999	0.08975	N	0.97	0.24054	L	1.23	0.36872	T	-0.91	0.24676	N	0.15	0.15328	-1.0676	0.09948	T	0.080	0.31705	T	10	0.15599683	0.29389	T	0.003505	0.07939	T	0.040	0.10527	0.225	0.14960	0.180583059064	0.17676	0.10228205871346645	0.10158	0.0361008489801	0.03815	0.28724116087	0.08522	T	0.044067	0.26699	T	-0.281228	0.10538	T	-0.641741	0.09542	T	0.1442781239748	0.16639	T	0.614539	0.23442	T	0.035869364	0.04304	0.04799097	0.07034	0.035869364	0.04303	0.04799097	0.07033	-4.648	0.32769	T	.	.	0.105	0.20430	B	.;.;.	.;.;.	1.456503	0.18780	13.92	0.62458372572789278	0.06968	0.32891	0.24695	N	AEFDBI	0.174348	0.30148	N	-0.672997241274589	0.16794	0.8587321	-0.590103442945406	0.19750	1.061081	0.998887147635486	0.37891	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.59	0.56297	2.485000	0.44909	4.424000	0.43326	-0.153000	0.12021	0.445000	0.26527	0.993000	0.31925	0.780000	0.36908	0.0:0.1397:0.8603:0.0	15.381	0.74372	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	.	.	.	.	.	.	.	.	0.1667	126.32	102	chr3	157381273	.	G	C	126.32	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-5.425;DP=804;ExcessHet=0.4139;FS=129.894;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=2.16;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,24:191:99:0|1:157381264_G_T:133,0,6832:157381264	2	0	1	4
chr3	157381275	157381275	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1008G:p.D336E,VEPH1:NM_001167912:exon7:c.C1008G:p.D336E,VEPH1:NM_024621:exon7:c.C1008G:p.D336E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00635440847357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.135e-06	0.0002	5.489e-06	2.769e-06	5.444e-06	1.49e-06	9.8e-07	1.96e-06	1.29e-06	0	0	0	0	0	0	5.444e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.25873	T	0.051	0.47828	T	0.037	0.20876	B	0.039	0.23607	B	0.000027	0.55875	N	0.155307	0.610768	0.30862	N	1.465	0.36909	L	1.2	0.37405	T	-1.91	0.44471	N	0.329	0.36989	-1.1002	0.04067	T	0.048	0.20632	T	10	0.082680225	0.13672	T	0.006354	0.16696	T	0.085	0.24743	0.307	0.27806	0.117506650769	0.11410	0.22891689739805393	0.22806	0.0443737032538	0.04785	0.632842183113	0.57548	T	0.104774	0.41465	T	-0.210542	0.19303	T	-0.540205	0.18276	T	0.201581314206123	0.20502	T	0.685131	0.29593	T	0.055491958	0.10791	0.073092036	0.15845	0.055491958	0.10791	0.073092036	0.15845	-2.344	0.04911	T	.	.	0.388	0.58913	A	.;.;.	.;.;.	0.953755	0.13297	9.802	0.97893421265121461	0.36690	0.13235	0.17741	N	AEFDBI	0.197331	0.32426	N	-1.3282961693786	0.03355	0.1497388	-1.42487362353296	0.03005	0.1393659	0.999032131386444	0.38264	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	-7.02	0.01433	-0.193000	0.09572	-0.182000	0.11122	-0.106000	0.15538	0.008000	0.17931	0.000000	0.08366	0.779000	0.36868	0.4331:0.2723:0.2946:0.0	7.543	0.26917	734	0.53889	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	207.85	102	chr3	157381275	.	G	C	207.85	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-7.176;DP=676;ExcessHet=0.4139;FS=126.554;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=2.21;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,24:188:99:0|1:157381264_G_T:142,0,6706:157381264	2	0	1	4
chr3	161249488	161249488	G	A	exonic	NMD3	.	nonsynonymous SNV	NMD3:NM_001320227:exon14:c.G1238A:p.R413H,NMD3:NM_015938:exon14:c.G1238A:p.R413H	.	.	.	.	.	.	.	.	.	.	.	3359164	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.330	0.0279543280719	.	.	8.513e-06	0	0	0	0	1.558e-05	0	0	1.29e-05	2	154602	rs760279626	2.329e-05	2.326e-05	2.318e-05	2.34e-05	6.015e-05	1.677e-05	1.479e-05	1.999e-05	1.742e-05	6.015e-05	0	0	0	0	0	2.79e-05	1.659e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.005	0.72224	D	0.987	0.90584	D	0.548	0.67658	P	0.000000	0.84330	D	0.047589	1	0.81001	D	2.97	0.85306	M	1.91	0.23283	T	-3.95	0.74051	D	0.775	0.77226	-0.7384	0.58534	T	0.177	0.52225	T	10	0.7101801	0.72993	D	0.027954	0.50703	D	0.330	0.65226	0.255	0.19533	0.670669281473	0.66789	0.46436428098826343	0.46355	0.352968742451	0.37116	0.758584141731	0.75720	T	0.204323	0.56306	T	-0.0737519	0.40727	T	-0.161569	0.58210	T	0.981496930122375	0.73944	D	0.985476	0.95021	D	0.5988569	0.72630	0.45402846	0.68251	0.5988569	0.72631	0.45402846	0.68251	-4.912	0.35870	T	.	.	0.896	0.82481	P	.;.;.	.;.;.	5.390789	0.90310	31	0.99937752304075456	0.99661	0.95205	0.63827	D	AEFDBCI	0.894954	0.83448	D	0.827911821687478	0.87818	9.351229	0.794509669995352	0.89409	9.962954	0.99999143297628	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.77	4.77	0.60425	8.904000	0.92204	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.671	0.88123	772	0.48957	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	567.63	33	chr3	161249488	.	G	A	567.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.412;DP=233;ExcessHet=0;FS=0.952;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=-0.075;SOR=0.862	GT:AD:DP:GQ:PL	0/1:37,27:64:99:578,0,837	6	0	1	0
chr3	180661985	180661985	C	T	exonic	CCDC39	.	nonsynonymous SNV	CCDC39:NM_181426:exon3:c.G233A:p.R78H	Ciliary dyskinesia, primary, 14	1	1503	18	0	0	18	0.00595238	.	.	.	221375	Primary_ciliary_dyskinesia_14|not_specified|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0013434,MedGen:C3151136,OMIM:613807,Orphanet:244|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.119	.	0.0055	0.00599042	0.0122	0.0023	0	0	0.0101	0.0112	0.0075	0.0196	0.0044954	695	154602	rs115952495	0.0067	0.0066	0.0064	0.0069	0.0177	0.0065	0.0065	0.0169	0.0166	0.0011	0.0011	0.0161	0.0001	0.0082	0.0021	0.0062	0.0061	0.0177	0.0047	0.0047	0.0046	0.0048	0.0183	0.0044	0.0043	0.0152	0.0140	0.0013	0.0121	0.0007	0.0147	0.0004	0.0088	0	0.0059	0.0028	0.0183	0.419	0.14843	T	0.678	0.06147	T	0.007	0.14184	B	0.004	0.10090	B	0.877839	0.08777	N	0.953795	0.999664	0.21738	N	-0.225	0.03956	N	-1.14	0.77843	T	-1.74	0.41239	N	0.206	0.22870	-0.9124	0.46556	T	0.189	0.54079	T	10	0.0032339096	0.00055	T	.	.	.	0.119	0.33137	.	.	0.646061630353	0.64312	.	.	0.0624283650385	0.06944	0.21579477191	0.01081	T	0.004028	0.03443	T	-0.434208	0.01399	T	-0.38286	0.35386	T	0.00574437150263712	0.00063	T	0.592541	0.21854	T	0.038637057	0.05186	0.04981648	0.07692	0.034333773	0.03834	0.04981648	0.07692	-4.525	0.31214	T	.	.	.	.	.	.;.	.;.	0.823680	0.11949	8.510	0.96993205610494304	0.31912	0.04223	0.09740	N	AEFI	0.063656	0.12314	N	-0.770989148451699	0.14071	0.6979478	-0.64773034688136	0.18274	0.9754879	0.00685963275058952	0.11325	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.38	2.63	0.30420	0.724000	0.25624	-0.064000	0.12386	-0.181000	0.10308	0.350000	0.25759	0.000000	0.08366	0.256000	0.23417	0.0:0.2889:0.0:0.7111	8.560	0.32668	524	0.74079	.;.	.	.	.	.	.	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	0.005086	0.000000	0.002755	0.000000	0.000000	0.000000	0.000000	0.019084	0.07143	869.83	33	chr3	180661985	.	C	T	869.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.32;DP=273;ExcessHet=0;FS=1.697;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-0.109;SOR=0.896	GT:AD:DP:GQ:PL	0/1:59,39:98:99:880,0,1258	6	0	1	0
chr3	191375401	191375401	G	C	exonic	CCDC50	.	nonsynonymous SNV	CCDC50:NM_178335:exon6:c.G788C:p.R263P	.	0	1520	2	0	0	2	0.000657462	.	.	.	3189690	CCDC50-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.013774390107	.	0.000199681	0.0002	0	0	0	0	0	0	0.0012	0.0001294	20	154602	rs534593003	6.842e-05	6.84e-05	2.315e-05	0.0001	0.0011	5.714e-05	5.327e-05	0.0010	0.0009	0	0	0	0	0	0	0	3.312e-05	0.0011	2.628e-05	2.625e-05	1.286e-05	4.031e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	0.001	0.07471	B	0.005	0.11217	B	0.120016	0.19052	N	0.446213	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0289	0.20811	T	0.063	0.26314	T	9	0.011402369	0.00249	T	0.013774	0.33422	T	.	.	0.416	0.45544	.	.	0.11786730302800535	0.11713	.	.	0.22729498148	0.01774	T	.	.	.	-0.579201	0.00195	T	-0.65031	0.08933	T	0.051997432417775	0.05846	T	0.550545	0.18982	T	.	.	.	.	.	.	.	.	-4.204	0.26809	T	.	.	0.125	0.26357	B	.	.	0.575422	0.09437	6.218	0.9387872604021219	0.23895	0.07267	0.13291	N	AEFGBI	0.161821	0.28792	N	-0.780366745167671	0.13821	0.6837624	-0.808996097227649	0.14278	0.7452126	0.999902855414561	0.45458	0.632932	0.41330	0	0.379588	0.06130	0	0.601832	0.32385	0	0.662433	0.64102	0	.	.	5.78	1.82	0.24209	-0.249000	0.08861	-0.453000	0.09087	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.0769:0.4073:0.5158:0.0	9.420	0.37707	968	0.07033	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	3046.46	33	chr3	191375401	.	G	C	3046.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.79;DP=546;ExcessHet=0;FS=8.253;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=0.394;SOR=0.81	GT:AD:DP:GQ:PL	0/1:85,111:196:99:3057,0,2069	6	0	1	0
chr3	195779059	195779059	C	0	exonic	MUC4	.	.	.	.	665	654	51	57	95	260	0.112016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	265.06	181	chr3	195779059	.	C	*	265.06	.	AC=3;AF=0.5;AN=6;DP=1688;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.667;MQ=52.07;QD=0.59;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,161:178:99:0|1:195779059_C_*:5901,581,265:195779059	1	1	1	4
chr3	195779779	195779779	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11801T:p.A3934V	.	600	874	3	9	36	57	0.0118711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00327910076655	.	.	6.677e-05	0	0	0	0.0009	0	0	0	.	.	.	rs112027608	0.0007	0.0022	0.0006	0.0008	0.0028	0.0007	0.0006	0.0022	0.0020	0.0002	0.0003	0.0014	0.0028	0.0041	0.0003	0.0005	0.0009	0.0006	5.906e-05	0.0003	0.0001	0	9.035e-05	2.326e-05	1.453e-05	1.979e-05	1.048e-05	9.035e-05	0	0	0	0	0	0	7.465e-05	0	0	0.423	0.09746	T	0.393	0.15746	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.25515	N	.	.	.	1.33	0.35031	T	-0.53	0.16393	N	0.035	0.01999	-1.0151	0.25304	T	0.043	0.18576	T	6	0.029459447	0.01072	T	0.003279	0.07268	T	0.018	0.03083	0.205	0.12076	0.0138822411134	0.00435	0.0017600896857898872	0.00163	.	.	0.509031713009	0.40087	T	.	.	.	-0.324223	0.06558	T	-0.703501	0.05636	T	0.0235782377466411	0.01093	T	0.686031	0.29438	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25331	B	.;.	.;.	0.060896	0.04720	1.352	0.93910929547238409	0.23946	0.00624	0.02752	N	AEFBI	0.059095	0.11135	N	-1.3016471889903	0.03657	0.1637367	-1.42224578363642	0.03030	0.1405921	1.54978405088282E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	1.321000	0.33283	0.221000	0.16075	0.178000	0.17791	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	.	.	.	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006422	0.007353	0.000000	0.000000	0.000000	0.000000	0.026316	0.000000	0.1667	118.06	127	chr3	195779779	.	G	A	118.06	.	AC=2;AF=0.167;AN=12;DP=990;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.67;QD=32;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:195779726_G_A:135,9,0:195779726	5	1	0	1
chr3	195780034	195780034	A	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.10105+1T>0	.	.	.	487	564	422	42	7	513	0.30967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	6283.65	148	chr3	195780034	.	A	*	6283.65	.	AC=5;AF=0.357;AN=14;DP=1829;ExcessHet=0.3696;FS=0;MLEAC=5;MLEAF=0.357;MQ=53.76;QD=5.53;SOR=0.7	GT:AD:DP:GQ:PL	1/1:0,81:81:99:3535,289,0	3	1	3	0
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	5427.33	274	chr3	195780499	.	G	*	5427.33	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.61;DP=2105;ExcessHet=0.3696;FS=0.662;MLEAC=2;MLEAF=0.143;MQ=54.04;MQRankSum=-0.232;QD=3.65;ReadPosRankSum=-2.018;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:13,530:590:99:.:.:24065,2517,1481:.	5	0	2	0
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7710.94	269	chr3	195780501	.	C	*	7710.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.08;DP=2073;ExcessHet=0.3696;FS=1.437;MLEAC=2;MLEAF=0.167;MQ=53.96;MQRankSum=-0.18;QD=5.05;ReadPosRankSum=-1.407;SOR=0.549	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,530:579:99:.:.:23603,2056,1019:.	4	0	2	1
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3056.3	257	chr3	195780510	.	G	*	3056.3	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.071;DP=2003;ExcessHet=0.3696;FS=1.441;MLEAC=2;MLEAF=0.143;MQ=53.49;MQRankSum=-0.124;QD=2.16;ReadPosRankSum=-2.632;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:15,531:565:99:.:.:23167,1271,304:.	5	0	2	0
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2607.68	322	chr3	195780514	.	G	*	2607.68	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.45;DP=2310;ExcessHet=0.0509;FS=1.623;MLEAC=3;MLEAF=0.25;MQ=53.75;MQRankSum=2.85;QD=1.88;ReadPosRankSum=0.076;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:16,531:558:40:.:.:23182,1107,40:.	4	1	1	1
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1635.4	204	chr3	195780526	.	TCCG	*	1635.4	.	AC=4;AF=0.333;AN=12;DP=2183;ExcessHet=0;FS=8.544;MLEAC=4;MLEAF=0.333;MQ=53.95;QD=1.39;SOR=0.211	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:23,531:555:99:.:.:22827,773,0:.	4	2	0	1
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN,MUC4:NM_001322468:exon12:c.8819_8845del:p.V2940_A4615delinsGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	432	1084	3	0	3	6	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0	0.0037	0	0.0017	0	0.0003	.	.	.	rs773375978	4.072e-05	0.0059	4.243e-05	3.896e-05	0.0003	3.176e-05	2.88e-05	2.611e-05	2.317e-05	0	3.061e-05	0.0002	9.239e-05	0.0001	0.0003	3.566e-05	5.609e-05	0	0.0005	0.0035	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0008	0.0009	0.0015	0.0006	0	0.0005	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1063.2	204	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	1063.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=4.84;DP=2822;ExcessHet=0.3476;FS=3.565;MLEAC=2;MLEAF=0.143;MQ=55.75;MQRankSum=-8.472;QD=0.64;ReadPosRankSum=-3.335;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:944,94:1038:99:0|1:195781534_TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC_T:787,0,38738:195781534	5	0	2	0
chr3	195781535	195781535	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	91.83	204	chr3	195781535	.	C	*	91.83	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.538;DP=2823;ExcessHet=1.1394;FS=3.565;MLEAC=2;MLEAF=0.143;MQ=56.99;MQRankSum=-4.922;QD=0.05;ReadPosRankSum=0.223;SOR=1.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:944,94:1038:99:0|1:195781534_TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC_T:787,0,38738:195781534	5	0	2	0
chr3	195781547	195781547	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	98.58	204	chr3	195781547	.	C	*	98.58	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.03;DP=2701;ExcessHet=1.1394;FS=3.146;MLEAC=2;MLEAF=0.167;MQ=57.2;MQRankSum=-4.308;QD=0.07;ReadPosRankSum=-0.772;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:719,87:817:99:.:.:1209,0,31092:.	4	0	2	1
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	19114.9	194	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	19114.9	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.667;DP=2134;ExcessHet=0.0509;FS=0;MLEAC=3;MLEAF=0.25;MQ=51.82;MQRankSum=5.48;QD=14.16;ReadPosRankSum=5.37;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:24,119:476:99:.:.:18012,12726,15426:.	3	0	3	1
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	13811.8	197	chr3	195781628	.	C	*	13811.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.55;DP=2021;ExcessHet=1.1394;FS=1.351;MLEAC=7;MLEAF=0.5;MQ=55.87;MQRankSum=-2.156;QD=7.01;ReadPosRankSum=0.308;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,470:480:99:1|1:195781534_TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC_T:20554,1417,0:195781534	2	2	3	0
chr3	195787028	195787075	CGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGAGTGA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.4505_4552del:p.V1502_H1517del,MUC4:NM_001322468:exon5:c.4505_4552del:p.L1503_A4615delinsPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	550	971	1	0	0	1	0.000514668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.0087	0.0055	0	0	0.0006	0	0.0070	0.0004528	70	154602	rs762849060	0.0004	0.0007	0.0003	0.0005	0.0039	0.0004	0.0004	0.0036	0.0034	0.0017	0.0003	4.106e-05	0.0001	0	0.0003	0.0001	0.0004	0.0039	0.0013	0.0023	0.0012	0.0013	0.0042	0.0011	0.0011	0.0036	0.0034	0.0042	0	0.0002	0	0.0004	0	0	0.0002	0.0006	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1637.01	42	chr3	195787027	.	GCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGAGTGA	G	1637.01	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.283;DP=729;ExcessHet=0.3476;FS=25.829;MLEAC=2;MLEAF=0.143;MQ=42.14;MQRankSum=-1.571;QD=4.76;ReadPosRankSum=0.467;SOR=4.13	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:177,35:212:99:.:.:1077,0,5198:.	5	0	2	0
chr3	195787035	195787035	T	0	exonic	MUC4	.	.	.	.	472	853	162	34	1	231	0.118802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	852.84	35	chr3	195787035	.	T	*	852.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.257;DP=605;ExcessHet=0.3476;FS=36.842;MLEAC=1;MLEAF=0.083;MQ=39.53;MQRankSum=1.69;QD=3.19;ReadPosRankSum=0.076;SOR=4.996	GT:AD:DP:GQ:PL	0/1:177,35:212:99:1077,0,5198	5	0	1	1
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1632.23	213	chr3	195788132	.	T	*	1632.23	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.52;DP=1516;ExcessHet=0.3476;FS=8.418;MLEAC=1;MLEAF=0.125;MQ=47.41;MQRankSum=-7.128;QD=2.2;ReadPosRankSum=5.73;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:434,238:672:99:0|1:195788077_G_A:7698,0,17085:195788077	3	0	1	3
chr3	195788137	195788137	C	0	exonic	MUC4	.	.	.	.	502	872	56	8	84	156	0.0396476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2795.32	221	chr3	195788137	.	C	*	2795.32	.	AC=1;AF=0.1;AN=10;BaseQRankSum=2.69;DP=1123;ExcessHet=0.0921;FS=1.747;MLEAC=1;MLEAF=0.1;MQ=53.23;MQRankSum=8.52;QD=4.27;ReadPosRankSum=-7.557;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,224:270:99:1|0:195788077_G_A:10233,1444,1393:195788077	4	0	1	2
chr3	196886230	196886230	G	A	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.G1049A:p.G350D,SENP5:NM_152699:exon2:c.G1049A:p.G350D	.	429	1046	46	1	0	48	0.0224299	.	.	.	698002	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.176	.	0.0032	0.00339457	0.0053	0.0009	0.0016	0	0.0021	0.0048	0.0088	0.0165	0.0049999	773	154602	rs34326043	0.0052	0.0052	0.0049	0.0056	0.0177	0.0051	0.0051	0.0169	0.0166	0.0008	0.0017	0.0050	0	0.0032	0.0083	0.0048	0.0051	0.0177	0.0032	0.0032	0.0032	0.0032	0.0135	0.0029	0.0028	0.0108	0.0099	0.0008	0	0.0027	0.0063	0.0002	0.0013	0.0034	0.0043	0.0052	0.0135	0.001	0.78490	D	0.006	0.70582	D	0.986	0.61523	D	0.674	0.53247	P	0.041470	0.23946	N	0.433434	0.999835	0.81001	D	2.215	0.62545	M	1.33	0.35031	T	-0.81	0.25551	N	0.795	0.79118	-0.9580	0.39552	T	0.135	0.44914	T	10	0.005043119	0.00109	T	.	.	.	0.176	0.44373	.	.	0.525266285433	0.52174	0.28638960740791314	0.28551	0.641594467787	0.57746	0.427772462368	0.28904	T	0.009012	0.08229	T	-0.104752	0.35636	T	0.0897279	0.76226	D	0.0123640726748312	0.00202	T	0.868713	0.57175	D	0.35352296	0.57340	0.3804287	0.63075	0.35352296	0.57340	0.3804287	0.63075	-3.584	0.18641	T	.	.	0.223	0.45446	B	.;.	.;.	3.994106	0.58801	24.0	0.99785734057949749	0.87219	0.95368	0.64448	D	AEFDBCI	0.539764	0.55661	D	0.558107321876487	0.70576	5.522001	0.599793899831518	0.74926	6.220836	0.999999997546957	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	4.489000	0.60035	9.937000	0.82626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.055	0.71577	600	0.68026	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.020202	0.001359	0.002924	0.000000	0.008621	0.012195	0.007576	0.1429	2142.24	35	chr3	196886230	.	G	A	2142.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.534;DP=332;ExcessHet=0.3476;FS=1.272;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.736;SOR=0.813	GT:AD:DP:GQ:PL	0/1:69,74:143:99:1960,0,1854	5	0	2	0
chr4	6301807	6301807	C	T	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.C2012T:p.A671V,WFS1:NM_006005:exon8:c.C2012T:p.A671V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1508	12	2	0	16	0.00527704	.	.	YES	54612	Autosomal_dominant_nonsyndromic_hearing_loss_6|WFS1-Related_Spectrum_Disorders|not_provided|not_specified|Monogenic_diabetes|Wolfram_syndrome_1	MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:CN239410|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.296	.	7.7e-05	0.0119808	0.0070	0.0003	0.0003	0.0006	0	9.02e-05	0.0044	0.0504	0.0060478	935	154602	rs71530907	0.0029	0.0029	0.0017	0.0041	0.0445	0.0028	0.0028	0.0433	0.0428	0.0003	8.944e-05	3.826e-05	0.0005	0.0004	0.0031	8.184e-05	0.0041	0.0445	0.0018	0.0018	0.0011	0.0025	0.0481	0.0016	0.0015	0.0430	0.0410	0.0003	0	0.0003	0	0.0008	0.0003	0	0.0001	0.0024	0.0481	0.564	0.06302	T	0.426	0.13872	T	0.45	0.36066	B	0.08	0.28873	B	0.160557	0.03035	N	1.616490	0.999999	0.08975	N	0.55	0.14455	N	-4.15	0.96798	D	-1.43	0.35194	N	0.141	0.14054	0.041	0.83063	D	0.644	0.87571	D	10	0.00240466	0.00036	T	.	.	.	0.296	0.61616	.	.	0.848237714454	0.84678	0.6132834489544796	0.61260	.	.	0.350450336933	0.17988	T	0.183851	0.53632	T	-0.278082	0.10871	T	-0.137184	0.60361	T	0.00292918279100071	0.00031	T	0.721828	0.33531	T	0.022257045	0.00876	0.03273608	0.02056	0.020004798	0.00545	0.029667282	0.01330	-6.314	0.48832	T	0.22181369628146905	0.29920	0.083	0.09239	B	.;.	.;.	-0.247339	0.02858	0.403	0.77762828207817403	0.12012	0.02613	0.07191	N	AEFBI	0.079126	0.15977	N	-1.38612734848037	0.02767	0.1226622	-1.51435046599051	0.02233	0.1024051	0.997934837202629	0.36211	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	-8.29	0.00884	-0.013000	0.12615	-0.579000	0.08386	-0.985000	0.01878	0.002000	0.15269	0.000000	0.08366	0.029000	0.12982	0.187:0.1633:0.0:0.6497	6.899	0.23451	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	0.005035	0.000000	0.002717	0.008772	0.000000	0.000000	0.003049	0.003788	0.07143	1941.46	59	chr4	6301807	.	C	T	1941.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.879;DP=548;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.482;SOR=0.682	GT:AD:DP:GQ:PL	0/1:106,78:184:99:1952,0,2659	6	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1395.26	65	chr4	6862306	.	T	C	1395.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.044;DP=565;ExcessHet=11.5949;FS=236.492;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=0.983;SOR=10.163	GT:AD:DP:GQ:PL	0/1:75,27:102:99:224,0,1631	0	0	6	1
chr4	8604133	8604133	C	A	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon3:c.C621A:p.D207E,CPZ:NM_001014447:exon4:c.C654A:p.D218E,CPZ:NM_001014448:exon4:c.C243A:p.D81E	.	422	1049	27	1	23	52	0.0136342	.	.	.	3206958	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.082	.	.	0.00359425	0.0113	0.0042	0.0118	0	0.0012	0.0158	0.0209	0.0077	0.0059249	916	154602	rs28421391	0.0081	0.0081	0.0080	0.0082	0.0329	0.0080	0.0080	0.0290	0.0275	0.0026	0.0069	0.0191	2.597e-05	0.0011	0.0329	0.0087	0.0089	0.0060	0.0064	0.0064	0.0068	0.0061	0.0094	0.0061	0.0060	0.0082	0.0079	0.0028	0	0.0094	0.0138	0	0.0007	0.0408	0.0087	0.0118	0.0077	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.030854	0.25250	N	0.435749	1	0.81001	D	-2.86	0.00020	N	3.38	0.05778	T	1.52	0.00719	N	0.104	0.08786	-0.9370	0.43088	T	0.002	0.00676	T	10	0.0054033995	0.00119	T	.	.	.	0.082	0.23913	0.377	0.39156	0.371718192555	0.36778	0.4251529541912322	0.42432	0.00378164286504	0.00325	0.465445458889	0.34057	T	0.014025	0.12018	T	-0.67938	0.00048	T	-0.741694	0.03820	T	0.0090220682863954	0.00113	T	0.558744	0.19484	T	0.023960322	0.01182	0.026698772	0.00774	0.03801165	0.04983	0.026698772	0.00774	0.284	0.00274	T	0.04000093292292632	0.00342	0.079	0.14751	B	.;.;.	.;.;.	-1.540176	0.00272	0.004	0.92848179743538006	0.22386	0.06174	0.12157	N	AEFDBHCI	0.068660	0.13554	N	-1.52204740467275	0.01705	0.07463004	-1.38926570228566	0.03365	0.1568363	0.99825109803091	0.36648	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	3.86	-3.98	0.03810	-1.293000	0.02878	-11.402000	0.00608	-0.185000	0.09859	0.005000	0.17040	0.000000	0.08366	0.818000	0.38543	0.3608:0.1816:0.1947:0.2629	0.154	0.00090	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase 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	.	.	.	.	.	.	.	.	0.07143	1407.49	40	chr4	8604133	.	C	A	1407.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=329;ExcessHet=0;FS=0.788;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.718;SOR=0.55	GT:AD:DP:GQ:PL	0/1:40,53:93:99:1418,0,918	6	0	1	0
chr4	9243997	9243997	A	T	exonic	USP17L17	.	nonsynonymous SNV	USP17L17:NM_001256857:exon1:c.A119T:p.K40M	.	712	801	9	0	0	9	0.00558659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.509975169103	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411951281	0.0009	0.0032	0.0010	0.0008	0.0015	0.0008	0.0008	0.0012	0.0010	0.0009	0.0003	0.0004	0.0015	0.0038	0	0.0006	0.0010	0.0005	0.0014	0.0027	0.0011	0.0018	0.0042	0.0012	0.0011	0.0018	0.0013	0.0018	0	0.0013	0.0015	0.0042	0.0032	0	0.0007	0.0057	0.0021	0.012	0.54683	D	0.018	0.61642	D	.	.	.	.	.	.	0.012664	0.01342	U	6.938180	1	0.08975	N	.	.	.	2.63	0.12884	T	-2.84	0.59873	D	0.191	0.21188	-1.0194	0.23910	T	0.025	0.10821	T	7	0.066975534	0.09266	T	0.509975	0.95286	D	0.059	0.16972	.	.	0.0551355673512	0.04727	0.056118507793840894	0.05552	.	.	0.531031668186	0.43179	T	0.064838	0.32536	T	-0.270228	0.11732	T	-0.62594	0.10725	T	0.860417008399963	0.51089	D	0.692631	0.30204	T	0.2530868	0.48329	0.18468305	0.41536	0.2530868	0.48328	0.18468305	0.41535	-5.244	0.39386	T	.	.	0.134	0.29144	B	.;.	.;.	2.474046	0.31895	18.88	0.98119505271263885	0.38424	0.00703	0.02985	N	AEFI	0.025818	0.01832	N	-0.871805404037688	0.11517	0.5562017	-1.08386275816897	0.08018	0.3924214	1.37642099307455E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	-0.739	0.10560	0.246000	0.17935	.	.	0.324000	0.19419	0.001000	0.13787	0.000000	0.08366	0.082000	0.17360	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	311.83	52	chr4	9243997	.	A	T	311.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-7.143;DP=397;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=24.41;MQRankSum=1.47;QD=2.78;ReadPosRankSum=-0.714;SOR=0.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,15:112:99:0|1:9243997_A_T:322,0,4017:9243997	6	0	1	0
chr4	15003254	15003254	-	GCC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177382:exon1:c.581_582insGCC:p.P201_L202insP,CPEB2:NM_001177383:exon1:c.581_582insGCC:p.L202_G679delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177384:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182485:exon1:c.581_582insGCC:p.L202_G709delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRSSLQLPAWGSDSLQDSWCTAAGTSRIDQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182646:exon1:c.581_582insGCC:p.L202_G679delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	0	191	27	1	7	36	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0111	0.0222	0.0224	0	0.0065	0.0192	0.0167	0.0002305	6	26028	rs560468327	0.0034	0.0034	0.0029	0.0038	0.0285	0.0033	0.0032	0.0269	0.0262	0.0285	0.0034	0.0094	0.0107	0.0001	0.0136	0.0013	0.0056	0.0155	0.0097	0.0097	0.0098	0.0096	0.0256	0.0093	0.0091	0.0244	0.0238	0.0256	0	0.0049	0.0095	0.0097	0	0.0140	0.0021	0.0101	0.0185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051758	0.027778	0.026923	0.069307	0.000000	0.000000	0.041667	0.085938	0.08333	799.23	11	chr4	15003254	.	A	AGCC	799.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.802;DP=160;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=1.77;SOR=0.807	GT:AD:DP:GQ:PL	0/1:24,21:45:99:809,0,933	5	0	1	1
chr4	15515909	15515909	T	C	exonic	CC2D2A	.	nonsynonymous SNV	CC2D2A:NM_001378617:exon8:c.T775C:p.F259L,CC2D2A:NM_001378615:exon10:c.T922C:p.F308L,CC2D2A:NM_001080522:exon11:c.T922C:p.F308L	COACH syndrome, Autosomal recessive;Joubert syndrome 9, Autosomal recessive;Meckel syndrome 6, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	.	500929	CC2D2A-related_disorder|not_provided|Meckel-Gruber_syndrome|Joubert_syndrome|not_specified|Meckel_syndrome,_type_6|Joubert_syndrome_9	MedGen:CN239313|MedGen:C3661900|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MedGen:CN169374|MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564|MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285,Orphanet:2318	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.103	0.0037931172752	0.0002	0.000798722	0.0034	0	0.0042	0	0	0.0004	0.0047	0.0087	0.0006856	106	154602	rs201465430	0.0005	0.0006	0.0003	0.0008	0.0073	0.0005	0.0005	0.0068	0.0066	3.146e-05	0.0002	0	0	0	0.0033	0.0001	0.0007	0.0073	0.0003	0.0003	0.0002	0.0004	0.0054	0.0002	0.0002	0.0038	0.0032	4.812e-05	0	0.0003	0	0.0002	0	0.0102	8.821e-05	0	0.0054	0.226	0.27544	T	0.21	0.26714	T	0.359	0.33845	B	0.167	0.35118	B	0.003071	0.35480	N	0.316091	0.966327	0.38523	D	2.48	0.72069	M	1.91	0.23283	T	-2.86	0.69357	D	0.451	0.48872	-1.0949	0.04766	T	0.064	0.26420	T	10	0.00920397	0.00208	T	0.003793	0.08837	T	0.103	0.29403	0.487	0.57098	0.388010793773	0.38412	0.6220853571130822	0.62141	0.0513548391877	0.05653	0.594027757645	0.52062	T	0.220027	0.58319	T	-0.433059	0.01421	T	-0.39013	0.34536	T	0.0509191339610452	0.05661	T	0.940606	0.77652	D	0.17091648	0.37694	0.19468963	0.43106	0.23772997	0.46641	0.18545908	0.41658	-2.741	0.07654	T	0.3955221800544413	0.48811	0.910	0.84796	P	.;.;.	.;.;.	3.950651	0.57877	23.9	0.99200277235031931	0.55261	0.95613	0.65424	D	AEFDBI	0.642267	0.61930	D	0.116930802553407	0.47253	2.953583	0.304037243311709	0.55775	3.740493	0.999999986294262	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	6.17	6.17	0.99707	6.921000	0.75625	7.708000	0.66649	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.805	0.78265	630	0.65016	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003030	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.007576	0.07143	543.49	33	chr4	15515909	.	T	C	543.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.241;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-0.061;SOR=0.646	GT:AD:DP:GQ:PL	0/1:31,28:59:99:554,0,778	6	0	1	0
chr4	15538112	15538112	G	C	exonic	CC2D2A	.	nonsynonymous SNV	CC2D2A:NM_001378617:exon14:c.G1831C:p.V611L,CC2D2A:NM_001378615:exon16:c.G1978C:p.V660L,CC2D2A:NM_001080522:exon17:c.G1978C:p.V660L	COACH syndrome, Autosomal recessive;Joubert syndrome 9, Autosomal recessive;Meckel syndrome 6, Autosomal recessive	1	1517	1	1	2	5	0.000987817	.	.	.	191879	not_specified|not_provided|Joubert_syndrome_9|Meckel_syndrome,_type_6|Joubert_syndrome|Meckel-Gruber_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285,Orphanet:2318|MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.068	0.0254604526921	.	0.000998403	0.0028	0.0009	0.0037	0	0	0.0036	0.0072	0.0024	0.0017011	263	154602	rs16892134	0.0024	0.0024	0.0024	0.0024	0.0027	0.0024	0.0023	0.0026	0.0025	0.0003	0.0021	0.0044	0	0.0002	0.0014	0.0027	0.0025	0.0024	0.0018	0.0018	0.0019	0.0016	0.0029	0.0016	0.0015	0.0022	0.0020	0.0005	0	0.0029	0.0035	0	0.0006	0.0034	0.0024	0.0033	0.0025	0.317	0.13699	T	0.015	0.61642	D	0.313	0.32852	B	0.086	0.29521	B	0.013546	0.28806	N	0.335075	0.878585	0.28088	N	1.87	0.49600	L	0.51	0.55439	T	-0.98	0.25986	N	0.179	0.21839	-1.0632	0.10974	T	0.116	0.41031	T	10	0.009012312	0.00204	T	0.02546	0.48428	D	0.068	0.19811	0.118	0.02577	0.258779203287	0.25495	0.2908641194678002	0.28999	0.0446928262617	0.04833	0.299244791269	0.10288	T	0.094777	0.39485	T	-0.482423	0.00716	T	-0.471291	0.25376	T	0.00513683513678708	0.00055	T	0.665033	0.27384	T	0.05216054	0.09688	0.039093945	0.03923	0.04578704	0.07554	0.047523953	0.06865	-3.234	0.12901	T	0.44525899496419497	0.53004	0.152	0.33573	B	.;.	.;.	0.494630	0.08640	5.408	0.32220745500506753	0.01856	0.25588	0.22743	N	AEFDBI	0.147234	0.27086	N	-1.11180617578989	0.06432	0.2960684	-1.14960869531114	0.06775	0.3272607	0.0482307118050536	0.14760	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.39	1.46	0.21769	0.309000	0.19094	1.730000	0.28322	-2.081000	0.00403	0.048000	0.21332	0.946000	0.28899	0.036000	0.13842	0.3857:0.1324:0.4818:0.0	5.663	0.16957	618	0.66225	CC2D2A, N-terminal, C2 domain;CC2D2A, N-terminal, 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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	548.53	19	chr4	15538112	.	G	C	548.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.31;DP=160;ExcessHet=0;FS=4.781;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.096;SOR=1.501	GT:AD:DP:GQ:PL	0/1:23,17:40:99:559,0,578	6	0	1	0
chr4	30723650	30723650	C	T	exonic	PCDH7	.	nonsynonymous SNV	PCDH7:NM_001173523:exon1:c.C2228T:p.T743I,PCDH7:NM_002589:exon1:c.C2228T:p.T743I,PCDH7:NM_032456:exon1:c.C2228T:p.T743I,PCDH7:NM_032457:exon1:c.C2228T:p.T743I	.	426	1050	46	0	0	46	0.0214352	.	.	.	720948	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0038	0.00299521	0.0054	0.0005	0.0037	0.0001	0.0005	0.0064	0.0044	0.0104	0.0051164	791	154602	rs36037995	0.0049	0.0049	0.0046	0.0052	0.0154	0.0048	0.0048	0.0128	0.0119	0.0010	0.0043	0.0010	0	0.0005	0.0154	0.0050	0.0052	0.0111	0.0037	0.0037	0.0036	0.0037	0.0112	0.0034	0.0033	0.0088	0.0080	0.0007	0.0208	0.0042	0.0014	0	0.0007	0.0238	0.0054	0.0033	0.0112	0.509	0.07521	T	0.012	0.63918	D	0.148	0.27908	B	0.081	0.28987	B	.	.	.	.	0.991965	0.41520	D	0.665	0.16292	N	0.11	0.61208	T	-2.37	0.56466	N	0.521	0.55540	-0.9534	0.40380	T	0.096	0.36185	T	9	0.007612586	0.00173	T	.	.	.	0.108	0.30607	.	.	0.520749599713	0.51718	0.44365542690440946	0.44283	.	.	0.576002418995	0.49523	T	0.041905	0.26010	T	-0.368356	0.03678	T	-0.291507	0.45616	T	0.0231255427321217	0.01038	T	0.892111	0.62800	D	0.16803898	0.37236	0.19054726	0.42463	0.16803898	0.37236	0.19054726	0.42462	-3.805	0.20879	T	.	.	0.092	0.13690	B	.;.	.;.	3.172780	0.43032	21.7	0.98209840800058557	0.39202	0.82364	0.41602	D	AEFDGBCI	0.283118	0.39630	N	0.0556540463801679	0.44403	2.715013	0.208126574651296	0.50297	3.223326	0.999999979181137	0.74766	0.676563	0.55306	0	0.59043	0.45803	0	0.673471	0.61138	0	0.657601	0.63696	0	.	.	5.04	5.04	0.67293	1.751000	0.37967	1.742000	0.28408	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8509:0.1491:0.0	14.228	0.65415	484	0.77165	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.005051	0.010870	0.002924	0.000000	0.008621	0.036585	0.007576	0.07143	3463.44	34	chr4	30723650	.	C	T	3463.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.193;DP=497;ExcessHet=0;FS=6.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.128;SOR=0.442	GT:AD:DP:GQ:PL	0/1:168,141:309:99:3474,0,4171	6	0	1	0
chr4	53507464	53507464	G	C	exonic	LNX1	.	nonsynonymous SNV	LNX1:NM_032622:exon3:c.C340G:p.P114A,LNX1:NM_001126328:exon4:c.C628G:p.P210A	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.010002431968	.	.	4.964e-05	0	0	0	0	1.502e-05	0.0011	0.0002	3.88e-05	6	154602	rs756281682	2.326e-05	2.326e-05	1.361e-05	3.3e-05	0.0005	1.674e-05	1.477e-05	0.0002	0.0001	0	0	0	0	0	0.0005	7.195e-06	1.656e-05	0.0003	3.284e-05	3.281e-05	5.141e-05	1.343e-05	0.0004	1.261e-05	7.98e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0.0034	2.941e-05	0	0.0004	0.049	0.39820	D	0.545	0.09829	T	0.332	0.42845	B	0.158	0.34617	B	0.000004	0.62929	D	0.102727	1	0.81001	D	1.15	0.29295	L	3.24	0.06845	T	-0.78	0.25118	N	0.328	0.36884	-1.0622	0.11215	T	0.015	0.06138	T	10	0.15161094	0.28653	T	0.010002	0.26012	T	0.107	0.30369	0.322	0.30226	0.382925413656	0.37900	0.29306679643020633	0.29219	0.0768060771228	0.08626	0.366652280092	0.20351	T	0.129716	0.45817	T	-0.426341	0.01560	T	-0.549862	0.17339	T	0.0911523112268826	0.11354	T	0.738626	0.35686	T	0.10516135	0.24863	0.114139095	0.27549	0.10516135	0.24863	0.114139095	0.27548	-2.988	0.10052	T	.	.	0.076	0.09772	B	.;.	.;.	2.458616	0.31669	18.81	0.68265240189181875	0.08605	0.95303	0.64198	D	AEFBI	0.691836	0.65170	D	0.0188276225465482	0.42712	2.578668	0.114314496651451	0.45280	2.793981	0.999999580746919	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.444512	0.06955	0	.	.	4.9	4.9	0.63643	5.327000	0.65659	4.286000	0.42896	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.095000	0.18041	0.0:0.0:0.8415:0.1585	13.261	0.59535	453	0.79178	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	568.83	24	chr4	53507464	.	G	C	568.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.13;DP=181;ExcessHet=0;FS=1.708;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.61;ReadPosRankSum=-0.92;SOR=0.358	GT:AD:DP:GQ:PL	0/1:9,20:29:99:579,0,219	6	0	1	0
chr4	55105862	55105862	C	T	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon12:c.G1615A:p.G539R	Hemangioma, capillary infantile, somatic	0	1517	5	0	0	5	0.00164528	.	.	.	138344	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.0102342181194	0.0016	0.000399361	0.0016	0.0003	0.0006	0	0.0002	0.0027	0.0011	0.0002	0.0015977	247	154602	rs55716939	0.0026	0.0027	0.0027	0.0026	0.0035	0.0026	0.0025	0.0031	0.0031	0.0005	0.0008	0.0003	0	0.0004	0.0035	0.0032	0.0030	0.0004	0.0015	0.0015	0.0017	0.0014	0.0029	0.0014	0.0013	0.0025	0.0024	0.0005	0	0.0009	0.0006	0	9.413e-05	0.0034	0.0029	0	0.0006	0.071	0.35165	T	0.19	0.28482	T	0.001	0.07471	B	0.021	0.19346	B	0.000157	0.49130	D	0.177064	0.65807	0.33026	D	2.25	0.63811	M	2.33	0.16492	T	-1.45	0.35597	N	0.325	0.36569	-1.0681	0.09836	T	0.035	0.14857	T	10	0.013275832	0.00282	T	0.010234	0.26522	T	0.027	0.05988	0.402	0.43245	0.0675242888579	0.06100	0.634589841994731	0.63392	0.213140638837	0.23823	0.394965738058	0.24367	T	0.097027	0.39943	T	-0.46025	0.00980	T	-0.435049	0.29363	T	0.0200182546383785	0.00703	T	0.876612	0.58915	D	0.3399509	0.56276	0.17928475	0.40652	0.29138824	0.52121	0.17396028	0.39757	-4.263	0.27655	T	.	.	0.276	0.50916	B	.;.	.;.	3.396920	0.47056	22.4	0.99696147715270844	0.80316	0.90752	0.52194	D	AEFBI	0.451862	0.50566	N	-0.100729818941264	0.37361	2.172521	0.0730026163629834	0.43198	2.626442	0.997466136739452	0.35646	0.722319	0.85440	0	0.573888	0.26702	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.52	4.49	0.54177	3.160000	0.50438	2.725000	0.34343	0.599000	0.40250	0.994000	0.38300	0.996000	0.32793	0.964000	0.52637	0.0:0.8751:0.0:0.1249	12.998	0.58061	715	0.56137	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.1429	3166.24	40	chr4	55105862	.	C	T	3166.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.04;DP=475;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.915;SOR=0.718	GT:AD:DP:GQ:PL	0/1:90,73:163:99:1685,0,2216	5	0	2	0
chr4	68471515	68471515	A	C	exonic	TMPRSS11E	.	nonsynonymous SNV	TMPRSS11E:NM_014058:exon5:c.A382C:p.T128P	.	429	1085	4	0	4	8	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.0326262728397	.	.	0.0004	0	0	0	0	1.503e-05	0.0011	0.0026	0.0002911	45	154602	rs543569632	0.0001	0.0001	6.824e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	0	0	0	0	0	0.0007	5.403e-06	6.643e-05	0.0021	3.965e-05	5.261e-05	1.291e-05	6.768e-05	0.0012	1.723e-05	1.135e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.026	0.46910	D	0.022	0.57587	D	0.984	0.60733	D	0.907	0.64423	P	0.000064	0.52346	D	0.000000	0.727198	0.33680	D	2.085	0.57729	M	1.02	0.40749	T	-3.2	0.64710	D	0.486	0.52029	-0.7303	0.58948	T	0.148	0.47308	T	10	0.050452977	0.04780	T	0.032626	0.54402	D	0.215	0.50805	.	.	0.533614126537	0.53011	0.5429239288331668	0.54217	0.546491555766	0.51644	0.432075083256	0.29492	T	0.03359	0.22976	T	-0.264097	0.12424	T	-0.157681	0.58559	T	0.171024629828321	0.18649	T	0.610839	0.23175	T	0.8614922	0.88200	0.8466711	0.91281	0.8614922	0.88201	0.8466711	0.91282	-4.732	0.33789	T	.	.	0.086	0.10449	B	.	.	3.639916	0.51603	23.1	0.99402561559785807	0.62887	0.78929	0.39019	D	AEFI	0.384503	0.46560	N	0.296590946263954	0.55975	3.76176	0.291717003799635	0.55055	3.668975	1.12516801010949E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.97	4.79	0.60909	2.444000	0.44549	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.8441:0.0:0.0:0.1559	9.573	0.38607	778	0.48011	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	0.000521	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	558.49	34	chr4	68471515	.	A	C	558.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.479;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.664;SOR=0.573	GT:AD:DP:GQ:PL	0/1:22,27:49:99:569,0,453	6	0	1	0
chr4	73442372	73442372	A	C	exonic	AFP	.	nonsynonymous SNV	AFP:NM_001134:exon5:c.A559C:p.K187Q,AFP:NM_001354717:exon5:c.A85C:p.K29Q	Alpha-fetoprotein deficiency, Autosomal recessive	0	1434	86	2	0	90	0.030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0085	0.00579073	0.0107	0.0015	0.0046	0	0.0056	0.0148	0.0111	0.0120	0.0102198	1580	154602	rs35765619	0.0100	0.0100	0.0099	0.0101	0.0473	0.0098	0.0098	0.0427	0.0409	0.0021	0.0061	0.0598	0.0001	0.0062	0.0473	0.0092	0.0150	0.0114	0.0086	0.0086	0.0084	0.0089	0.0122	0.0082	0.0081	0.0108	0.0102	0.0018	0.0351	0.0122	0.0614	0	0.0041	0.0340	0.0095	0.0208	0.0122	0.205	0.20078	T	0.33	0.19721	T	0.79	0.44599	P	0.49	0.47330	P	0.000023	0.55875	D	0.114545	0.645196	0.32912	D	1.83	0.48079	L	0.85	0.47130	T	-0.26	0.11185	N	0.149	0.15187	-0.7760	0.56526	T	0.090	0.34683	T	10	0.0028496683	0.00045	T	.	.	.	0.090	0.26093	.	.	.	.	0.10880772504355984	0.10809	0.243530582748	0.26857	0.423839718103	0.28365	T	0.111791	0.42756	T	-0.543176	0.00321	T	-0.542623	0.18039	T	0.0308828407571469	0.02127	T	0.712529	0.32403	T	0.2085064	0.43089	0.17459998	0.39867	0.18125178	0.39286	0.17459998	0.39866	-3.377	0.14748	T	.	.	0.099	0.18828	B	.;.	.;.	2.461662	0.31716	18.82	0.98290296841271174	0.39945	0.67771	0.33554	D	AEFDBHCI	0.226950	0.35082	N	0.188298087251018	0.50637	3.251831	0.186493612588919	0.49107	3.117882	0.999999999849649	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.33	4.11	0.47350	0.459000	0.21619	3.047000	0.36105	0.691000	0.84096	0.075000	0.22209	0.992000	0.31684	0.953000	0.50222	0.9082:0.0:0.0918:0.0	8.108	0.30059	783	0.47268	Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal	.	.	.	.	rs35765619	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.040785	0.050505	0.052989	0.014620	0.000000	0.077586	0.051829	0.022727	0.1429	1859.34	34	chr4	73442372	.	A	C	1859.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.06;DP=289;ExcessHet=0.3476;FS=0.615;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.831;SOR=0.796	GT:AD:DP:GQ:PL	0/1:29,32:61:99:780,0,748	5	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1019.18	37	chr4	87615398	.	T	*	1019.18	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.3;DP=279;ExcessHet=2.5225;FS=2.583;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=5.57;ReadPosRankSum=-0.228;SOR=0.675	GT:AD:DP:GQ:PL	0/1:30,22:52:99:824,0,1165	5	0	2	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	514.71	21	chr4	87615730	.	ATAG	*	514.71	.	AC=6;AF=0.429;AN=14;DP=257;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=58.07;QD=3.06;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,6:13:99:0|1:87615730_ATAG_A:791,310,271:87615730	2	1	4	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	601.9	21	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	601.9	.	AC=6;AF=0.429;AN=14;DP=276;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=57.54;QD=3.58;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,6:13:99:0|1:87615730_ATAG_A:763,298,469:87615730	2	1	4	0
chr4	88476005	88476005	G	A	exonic	HERC5	.	nonsynonymous SNV	HERC5:NM_016323:exon12:c.G1557A:p.M519I	.	431	1090	1	0	0	1	0.000458505	.	.	.	2769921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.00829367628352	.	0.000199681	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs530839547	6.295e-05	6.43e-05	2.995e-05	9.627e-05	0.0010	5.229e-05	4.846e-05	0.0009	0.0008	0	0	0	0	0	0	0	4.968e-05	0.0010	2.626e-05	2.625e-05	1.285e-05	4.027e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.014	0.58626	D	0.013	0.63109	D	0.0	0.02946	B	0.005	0.11217	B	0.009318	0.30420	N	0.254707	0.994024	0.23959	N	1.635	0.41844	L	1.32	0.35219	T	-2.52	0.60507	D	0.183	0.19861	-0.9514	0.40730	T	0.106	0.38783	T	10	0.044550657	0.03424	T	0.008294	0.21954	T	0.119	0.33137	0.598	0.72862	0.442261297928	0.43845	0.31372982051136644	0.31285	0.16812889918	0.18958	0.463547617197	0.33796	T	0.03752	0.24504	T	-0.502626	0.00553	T	-0.545204	0.17790	T	0.0902986600995064	0.11254	T	0.680232	0.31438	T	0.25454673	0.48484	0.23436067	0.48650	0.25454673	0.48484	0.23436067	0.48649	-6.394	0.49463	T	.	.	0.361	0.64686	A	.;.	.;.	1.568298	0.20082	14.58	0.94905216576331286	0.25761	0.72496	0.35482	D	AEFBI	0.131149	0.24998	N	-0.205177914903495	0.32921	1.861985	-0.147484893710409	0.33505	1.917267	0.740433115529781	0.23203	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	4.79	3.93	0.44666	1.854000	0.39008	4.165000	0.42235	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.496000	0.28927	0.0:0.2023:0.7977:0.0	11.336	0.48741	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	.	.	.	.	.	.	.	.	0.07143	639.63	45	chr4	88476005	.	G	A	639.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.511;DP=231;ExcessHet=0;FS=0.972;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.709;SOR=0.512	GT:AD:DP:GQ:PL	0/1:37,28:65:99:650,0,894	6	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	978.75	100	chr4	99318097	.	C	G	978.75	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-2.434;DP=759;ExcessHet=3.1439;FS=289.841;MLEAC=5;MLEAF=0.5;MQ=59.98;MQRankSum=0;QD=1.93;ReadPosRankSum=-0.36;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,37:135:99:.:.:135,0,1284:.	1	0	4	2
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1470.26	74	chr4	99347057	.	C	G	1470.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.608;DP=640;ExcessHet=11.5949;FS=371.344;MLEAC=6;MLEAF=0.5;MQ=59.94;MQRankSum=0;QD=2.7;ReadPosRankSum=-0.101;SOR=10.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,39:108:99:.:.:162,0,1242:.	0	0	6	1
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	.	.	.	.	.	.	.	.	0.25	351.06	60	chr4	106925843	.	C	T	351.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.734;DP=526;ExcessHet=1.383;FS=169.805;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=2.55;SOR=8.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:111,43:154:99:.:.:189,0,1810:.	3	0	3	1
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1667.34	47	chr4	140563137	.	C	G	1667.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.692;DP=408;ExcessHet=11.5949;FS=373.141;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.61;ReadPosRankSum=-0.677;SOR=9.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,26:77:99:0|1:140563137_C_G:316,0,1419:140563137	0	0	6	1
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1464.34	47	chr4	140563138	.	C	G	1464.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.877;DP=414;ExcessHet=11.5949;FS=372.265;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.23;ReadPosRankSum=-0.457;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,26:77:99:0|1:140563137_C_G:316,0,1419:140563137	0	0	6	1
chr4	152943203	152943203	G	A	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon1:c.G146A:p.C49Y,FHDC1:NM_001371116:exon2:c.G146A:p.C49Y	.	320	1146	47	9	0	65	0.0275774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0016	0.00519169	0.0052	0.0004	0.0026	0	0.0002	0.0031	0.0092	0.0229	0.0045278	700	154602	rs144913043	0.0030	0.0030	0.0022	0.0038	0.0266	0.0029	0.0029	0.0232	0.0218	0.0004	0.0025	0.0049	0	0.0002	0.0266	0.0016	0.0042	0.0227	0.0023	0.0024	0.0019	0.0027	0.0216	0.0021	0.0020	0.0182	0.0169	0.0002	0	0.0036	0.0035	0	0	0.0274	0.0023	0.0053	0.0216	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.008757	0.01217	N	2.983030	1	0.08975	N	-1.87	0.00254	N	1.53	0.30401	T	0.76	0.01978	N	0.11	0.11054	-0.9921	0.32063	T	0.023	0.09696	T	10	0.0022506118	0.00033	T	.	.	.	0.010	0.01040	.	.	0.0920862733494	0.08535	0.15457957265891106	0.15378	0.196178703926	0.21972	0.452522158623	0.32288	T	0.001957	0.01365	T	-0.687484	0.00043	T	-0.74338	0.03750	T	0.0118901831796126	0.00185	T	0.285571	0.05082	T	0.021892782	0.00818	0.041451093	0.04714	0.021892782	0.00818	0.041451093	0.04714	-4.911	0.35858	T	.	.	0.061	0.01408	B	.;.	.;.	-1.399194	0.00361	0.007	0.15099306828571379	0.00357	0.00708	0.02999	N	AEFDBI	0.019336	0.00662	N	-1.87631002830649	0.00384	0.0165022	-1.97879846972427	0.00339	0.01498587	0.999999985020185	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	4.51	-9.02	0.00635	-1.940000	0.01634	-0.165000	0.11284	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1062:0.235:0.1374:0.5215	3.403	0.06904	870	0.31527	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.010101	0.017663	0.020468	0.000000	0.000000	0.018293	0.037879	0.1429	1308.24	34	chr4	152943203	.	G	A	1308.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.192;DP=304;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=0.967;SOR=0.693	GT:AD:DP:GQ:PL	0/1:77,54:131:99:1283,0,2013	5	0	2	0
chr4	153703274	153703277	CTTT	-	exonic	TLR2	.	frameshift deletion	TLR2:NM_001318789:exon3:c.367_370del:p.S124Lfs*2,TLR2:NM_001318790:exon3:c.367_370del:p.S124Lfs*2,TLR2:NM_001318791:exon3:c.367_370del:p.S124Lfs*2,TLR2:NM_001318793:exon3:c.367_370del:p.S124Lfs*2,TLR2:NM_001318795:exon3:c.367_370del:p.S124Lfs*2,TLR2:NM_001318796:exon3:c.367_370del:p.S124Lfs*2,TLR2:NM_003264:exon3:c.367_370del:p.S124Lfs*2,TLR2:NM_001318787:exon4:c.367_370del:p.S124Lfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	8.317e-06	0	0	0	0	1.509e-05	0	0	3.84e-05	1	26028	rs767943819	6.846e-07	6.841e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	818.23	43	chr4	153703273	.	CCTTT	C	818.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-2.551;SOR=0.809	GT:AD:DP:GQ:PL	0/1:43,24:67:99:828,0,1733	5	0	1	1
chr4	154240817	154240817	A	G	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001358235:exon18:c.T7079C:p.L2360S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0074114254101	.	.	0.0001	0	0	0	0	0.0002	0.0011	0	0.0001164	18	154602	rs549518705	0.0001	0.0001	0.0001	0.0001	0.0023	9.608e-05	9.087e-05	0.0013	0.0011	0.0002	0.0004	0.0002	0	0	0.0023	9.625e-05	0.0002	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.16e-05	6.718e-05	0.0001	7.893e-05	0	0	0.0001	0	0	0	0.0136	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.661962	0.10419	N	0.827038	0.986281	0.24631	N	.	.	.	.	.	.	.	.	.	.	.	-1.0718	0.09022	T	0.082	0.32295	T	10	0.09973335	0.18118	T	0.007411	0.19657	T	0.050	0.13987	.	.	.	.	0.08087195601267189	0.08022	0.35636978624	0.37383	0.325476944447	0.14250	T	.	.	.	-0.364643	0.03874	T	-0.464001	0.26165	T	0.31317737698555	0.25544	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18869	B	.	.	2.289873	0.29290	18.07	0.97248493084266829	0.33029	0.56576	0.30152	D	AEFDGI	0.080341	0.16241	N	-0.175265265011755	0.34167	1.946926	-0.011088863064998	0.39213	2.321622	0.0912743737151783	0.16130	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	3.63	0.40741	2.133000	0.41716	4.690000	0.44360	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.656:0.0:0.344:0.0	6.399	0.20831	744	0.52588	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	0.003021	0.000000	0.005435	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	1165.63	34	chr4	154240817	.	A	G	1165.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.882;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-1.69;SOR=0.61	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1176,0,1195	6	0	1	0
chr4	155908924	155908924	G	A	exonic	TDO2	.	nonsynonymous SNV	TDO2:NM_005651:exon5:c.G341A:p.R114Q	.	.	.	.	.	.	.	.	.	.	.	2374319	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.507	0.0175519457888	.	.	8.254e-06	0	0	0	0	1.501e-05	0	0	1.29e-05	2	154602	rs762647259	2.876e-05	2.873e-05	3.406e-05	2.34e-05	5.052e-05	2.154e-05	1.91e-05	2.541e-05	2.225e-05	2.995e-05	0	0	5.052e-05	0	0	3.419e-05	1.657e-05	0	2.63e-05	2.627e-05	3.857e-05	1.346e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.411e-05	0	0	0.008	0.61437	D	0.017	0.70582	D	0.999	0.77913	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.885	0.83555	M	.	.	.	-3.73	0.70920	D	0.932	0.93723	0.032	0.82888	D	0.503	0.81237	D	9	0.8673421	0.85983	D	0.017552	0.39293	T	0.507	0.78786	0.693	0.83032	0.307332253619	0.30352	0.7639820962230102	0.76346	0.217586072924	0.24282	0.530931472778	0.43166	T	0.547966	0.84642	D	0.359778	0.87237	D	0.294505	0.87937	D	0.99797922372818	0.92901	D	.	.	.	0.7375213	0.80150	0.4007913	0.64606	0.7375213	0.80152	0.4007913	0.64606	-9.815	0.72796	D	0.6472524151742949	0.71885	0.196	0.65488	B	.;.;.	.;.;.	5.490313	0.91477	32	0.9996188721005157	0.99998	0.96108	0.67569	D	AEFBHCI	0.969433	0.99183	D	0.882469404100879	0.90875	10.60701	0.844016914465249	0.92662	11.55702	0.999999999994625	0.74766	0.487112	0.14033	0	0.475579	0.06741	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	9.516000	0.97042	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.706000	0.34326	0.0:0.0:1.0:0.0	19.401	0.94618	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	811.63	34	chr4	155908924	.	G	A	811.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.291;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.704;SOR=0.73	GT:AD:DP:GQ:PL	0/1:32,37:69:99:822,0,655	6	0	1	0
chr4	159341677	159341677	C	T	exonic	RAPGEF2	.	nonsynonymous SNV	RAPGEF2:NM_001351727:exon14:c.C2165T:p.A722V,RAPGEF2:NM_001351728:exon14:c.C2165T:p.A722V,RAPGEF2:NM_014247:exon14:c.C2165T:p.A722V,RAPGEF2:NM_001351725:exon17:c.C2300T:p.A767V,RAPGEF2:NM_001351726:exon17:c.C2300T:p.A767V,RAPGEF2:NM_001351724:exon20:c.C2648T:p.A883V	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.809	0.19769410861	.	0.000399361	0.0007	0	0.0003	0	0	0	0	0.0051	0.0005951	92	154602	rs549339908	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0047	0.0045	2.987e-05	2.236e-05	0	0	0	0.0010	3.597e-06	0.0002	0.0051	0.0001	0.0001	5.141e-05	0.0002	0.0035	8.66e-05	7.252e-05	0.0022	0.0018	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0035	0.001	0.78490	D	0.0	0.92824	D	0.985	0.61118	D	0.987	0.77487	D	0.000000	0.84330	D	0.046411	1	0.81001	D	3.65	0.94181	H	-0.58	0.71425	T	-3.67	0.70191	D	0.843	0.83885	0.640	0.92418	D	0.706	0.89904	D	10	0.07724005	0.12167	T	0.197694	0.86552	D	0.809	0.93816	0.838	0.94479	0.910330845944	0.90943	0.906913232815615	0.90664	1.77477102259	0.91327	0.80330312252	0.82468	D	0.596087	0.86986	D	0.0558042	0.59083	T	0.308749	0.88596	D	0.343511576734591	0.26762	T	0.990501	0.97045	D	0.6503522	0.75383	0.6419444	0.79078	0.6503522	0.75384	0.6419444	0.79079	-13.686	0.91992	D	.	.	0.964	0.90831	P	.;.;.	.;.;.	4.307824	0.65834	24.9	0.99928107718192161	0.99222	0.97451	0.74834	D	ALL	0.865847	0.78508	D	1.06286664936056	0.97383	16.03584	0.974724605747922	0.98075	17.37238	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	7.884000	0.85773	7.724000	0.67448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:1.0:0.0:0.0	20.328	0.98707	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|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1301.46	34	chr4	159341677	.	C	T	1301.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.14;DP=272;ExcessHet=0;FS=3.695;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.2;SOR=0.885	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1312,0,1268	6	0	1	0
chr4	188099069	188099069	T	G	exonic	TRIML2	.	nonsynonymous SNV	TRIML2:NM_001303419:exon4:c.A587C:p.K196T,TRIML2:NM_173553:exon5:c.A587C:p.K196T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.020377974196	0.0019	0.00179712	0.0008	0.0086	8.648e-05	0	0	0	0	6.06e-05	0.0006792	105	154602	rs151211233	0.0002	0.0002	0.0003	0.0002	0.0091	0.0002	0.0002	0.0083	0.0079	0.0091	0.0004	0	0	0	0.0003	8.993e-07	0.0004	3.478e-05	0.0024	0.0024	0.0023	0.0024	0.0085	0.0022	0.0021	0.0077	0.0075	0.0085	0	0.0003	0	0	0	0	1.47e-05	0.0005	0	.	.	.	0.454	0.19908	T	.	.	.	.	.	.	0.837321	0.06978	N	1.101200	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.227	0.25499	-0.9151	0.46207	T	0.188	0.53797	T	10	0.004150629	0.00082	T	0.020378	0.42963	T	0.011	0.01250	.	.	0.222439326576	0.21863	0.21446038215226562	0.21362	0.137440798774	0.15499	0.319078058004	0.13281	T	0.060121	0.31301	T	-0.482729	0.00713	T	-0.460634	0.26530	T	0.0547333133202548	0.06312	T	0.579842	0.20971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.37746	B	.;.	.;.	0.635635	0.10040	6.792	0.96503545779144151	0.30051	0.08674	0.14569	N	AEFBI	0.062688	0.12065	N	-0.510459974663859	0.21740	1.15601	-0.684435212710021	0.17350	0.9221422	0.0172182387188447	0.12925	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.564101	0.26826	0	.	.	4.72	0.801	0.17822	0.004000	0.13007	-0.224000	0.10736	-0.129000	0.13216	0.000000	0.06391	0.000000	0.08366	0.059000	0.15899	0.0:0.2923:0.0:0.7077	6.665	0.22225	975	0.05339	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1073.63	34	chr4	188099069	.	T	G	1073.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=288;ExcessHet=0;FS=1.62;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.12;SOR=0.891	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1084,0,1338	6	0	1	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	148.89	60	chr4	189957425	.	A	G	148.89	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.416;DP=492;ExcessHet=1.1394;FS=3.079;MLEAC=3;MLEAF=0.214;MQ=45.91;MQRankSum=-1.422;QD=0.49;ReadPosRankSum=-1.752;SOR=0.974	GT:AD:DP:GQ:PL	0/1:97,15:112:58:58,0,2606	4	0	3	0
chr5	13882966	13882966	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon20:c.G3112A:p.V1038M	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1508	13	1	0	15	0.00494886	.	.	.	212503	Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_3|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.171	.	.	0.00519169	0.0028	9.61e-05	0.0005	0.0006	0	0.0002	0.0011	0.0192	0.0025161	389	154602	rs146828513	0.0014	0.0014	0.0008	0.0019	0.0201	0.0013	0.0013	0.0193	0.0190	0.0001	0.0002	0.0005	0.0002	3.744e-05	0.0028	8.094e-05	0.0024	0.0201	0.0007	0.0007	0.0003	0.0011	0.0182	0.0006	0.0005	0.0152	0.0140	4.812e-05	0	6.536e-05	0.0006	0.0008	0	0	8.821e-05	0.0014	0.0182	0.073	0.34800	T	.	.	.	0.801	0.45051	P	0.217	0.37636	B	0.000004	0.62929	N	0.060416	0.999953	0.52396	D	3.02	0.86243	M	1.83	0.24841	T	-1.68	0.40082	N	0.735	0.73555	-1.0301	0.20422	T	0.076	0.30553	T	10	0.0049948096	0.00107	T	.	.	.	0.171	0.43483	.	.	0.466059976078	0.46230	0.7299791674544845	0.72942	0.309138400549	0.33229	0.477823525667	0.35757	T	0.08197	0.36721	T	-0.425693	0.01574	T	-0.367998	0.37121	T	0.0908767307888051	0.11321	T	0.810219	0.46129	T	0.07719029	0.17504	0.14930494	0.35258	0.07719029	0.17504	0.14930494	0.35257	-6.034	0.46563	T	0.26726182137075205	0.36010	0.298	0.52793	B	.	.	2.699358	0.35258	19.85	0.99125257273832401	0.53116	0.96469	0.69293	D	AEFGI	0.732746	0.67940	D	0.148555678373125	0.48743	3.082908	0.182664671216065	0.48896	3.099666	0.931107810268763	0.27034	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	6.03	5.17	0.70848	5.770000	0.68526	3.890000	0.40289	-0.207000	0.08511	1.000000	0.71638	0.999000	0.35428	0.233000	0.22815	0.0:0.9334:0.0:0.0666	15.315	0.73778	752	0.51611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.018939	0.07143	2233.44	48	chr5	13882966	.	C	T	2233.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.405;DP=476;ExcessHet=0;FS=2.923;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.795;SOR=0.513	GT:AD:DP:GQ:PL	0/1:132,105:237:99:2244,0,2982	6	0	1	0
chr5	13922214	13922214	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon5:c.G553A:p.E185K	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	YES	633475	Primary_ciliary_dyskinesia_3|Primary_ciliary_dyskinesia	MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.076	0.00868679874243	.	.	6.594e-05	0	0	0	0	1.499e-05	0.0011	0.0004	5.17e-05	8	154602	rs752339132	3.215e-05	3.215e-05	2.314e-05	4.125e-05	0.0003	2.478e-05	2.22e-05	0.0002	0.0002	0	2.236e-05	0	0	0	0	1.799e-05	3.311e-05	0.0003	3.943e-05	3.938e-05	2.572e-05	5.377e-05	0.0006	1.716e-05	1.13e-05	0.0002	9.018e-05	2.409e-05	0	0	0	0	0	0	1.471e-05	0.0005	0.0006	0.574	0.06106	T	.	.	.	0.037	0.20876	B	0.011	0.15521	B	0.002308	0.36806	N	0.254817	0.876315	0.28124	N	2.53	0.73802	M	1.9	0.23486	T	-1.5	0.36586	N	0.361	0.40264	-1.0308	0.20195	T	0.058	0.24204	T	10	0.10048345	0.18302	T	0.008687	0.22952	T	0.076	0.22200	0.43	0.47843	0.313518423057	0.30959	0.4418344967883607	0.44100	0.202092860397	0.22627	0.455816447735	0.32738	T	0.067686	0.33265	T	-0.336219	0.05654	T	-0.461053	0.26483	T	0.0639162510005849	0.07769	T	0.694731	0.30434	T	0.080139056	0.18347	0.083861955	0.19251	0.080139056	0.18346	0.083861955	0.19251	-2.806	0.08239	T	.	.	0.083	0.09385	B	.	.	2.363399	0.30314	18.40	0.83198400472804512	0.14595	0.88549	0.48528	D	AEFDGBI	0.375660	0.46010	N	-0.553811824631395	0.20364	1.072981	-0.470404819915586	0.22973	1.250513	0.999999555015628	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.55	3.79	0.42757	3.854000	0.55657	3.956000	0.40711	-0.195000	0.09104	0.998000	0.41325	0.999000	0.35428	0.591000	0.31164	0.0:0.8631:0.0:0.1369	12.430	0.54903	750	0.51762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1616.44	36	chr5	13922214	.	C	T	1616.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.25;DP=325;ExcessHet=0;FS=1.371;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.95;SOR=0.848	GT:AD:DP:GQ:PL	0/1:66,67:133:99:1627,0,1482	6	0	1	0
chr5	35659080	35659080	G	A	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon8:c.G1040A:p.R347K,SPEF2:NM_144722:exon8:c.G1040A:p.R347K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.0264086788072	.	.	0.0002	0	0.0002	0	0	1.504e-05	0.0011	0.0016	0.000194	30	154602	rs748374856	9.664e-05	9.713e-05	2.182e-05	0.0002	0.0016	8.326e-05	7.864e-05	0.0014	0.0013	0	0	0	0	0	0.0002	9.007e-07	1.659e-05	0.0016	4.597e-05	4.593e-05	2.571e-05	6.714e-05	0.0014	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.104	0.32296	T	0.114	0.43721	T	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.996145	0.43041	D	2.72	0.79541	M	2.33	0.16492	T	-2.47	0.53898	N	0.803	0.83269	-1.0867	0.06102	T	0.111	0.39959	T	10	0.07729897	0.12183	T	0.026409	0.49319	D	0.263	0.57612	0.378	0.39319	0.628610474668	0.62557	0.3332152558935001	0.33234	0.117304707431	0.13220	0.72906935215	0.71370	T	0.088273	0.57381	T	-0.271243	0.11618	T	-0.181413	0.56393	T	0.284479054460519	0.24359	T	0.879412	0.60074	D	0.43955135	0.63373	0.38597187	0.63501	0.43955135	0.63374	0.38597187	0.63501	-7.955	0.65563	D	.	.	0.477	0.70763	A	.;.;.;.;.	.;.;.;.;.	4.893991	0.80374	27.3	0.99732125801869409	0.82833	0.98725	0.86057	D	AEFGI	0.885087	0.81532	D	0.774274092738843	0.84472	8.297716	0.772269717307212	0.87808	9.351883	0.999999999989587	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.34	5.34	0.75982	9.123000	0.93696	11.821000	0.97240	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.045	0.92996	581	0.69614	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1579.53	34	chr5	35659080	.	G	A	1579.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=295;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=1.11;SOR=0.752	GT:AD:DP:GQ:PL	0/1:59,61:120:99:1590,0,1437	6	0	1	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L,NIPBL:NM_133433:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	265.57	88	chr5	36976312	.	G	C	265.57	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.383;DP=583;ExcessHet=0.4139;FS=371.369;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.97;SOR=7.613	GT:AD:DP:GQ:PL	0/1:72,33:107:99:223,0,1376	2	0	2	3
chr5	38407879	38407879	G	T	exonic	EGFLAM	.	nonsynonymous SNV	EGFLAM:NM_182798:exon4:c.G520T:p.A174S,EGFLAM:NM_001205301:exon9:c.G1222T:p.A408S,EGFLAM:NM_152403:exon9:c.G1222T:p.A408S	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0162415949113	0.0008	0.000399361	0.0004	0	0.0004	0.0001	0	0.0006	0	0.0003	0.0004463	69	154602	rs144280109	0.0004	0.0004	0.0003	0.0004	0.0108	0.0004	0.0004	0.0086	0.0078	0.0004	0.0003	0.0023	0	0	0.0108	0.0003	0.0009	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0003	0.0002	4.816e-05	0	0.0006	0.0032	0	0	0.0136	0.0004	0.0009	0.0002	0.634	0.05091	T	0.654	0.06713	T	0.002	0.12183	B	0.003	0.12133	B	0.000052	0.53742	N	0.162320	0.503064	0.81001	D	-0.79	0.01637	N	-1.18	0.78314	T	0.77	0.01949	N	0.259	0.31027	-1.0231	0.22704	T	0.107	0.38979	T	10	0.010558546	0.00234	T	0.016242	0.37399	T	0.180	0.45073	.	.	0.3349148499	0.33108	0.2054628426780773	0.20463	0.083793042556	0.09449	0.48125243187	0.36230	T	0.086423	0.37720	T	-0.391856	0.02617	T	-0.457919	0.26827	T	0.0431086848799144	0.04258	T	0.80472	0.45238	T	0.056799863	0.11223	0.07393864	0.16121	0.056799863	0.11223	0.07393864	0.16121	-7.767	0.63102	D	.	.	0.088	0.11797	B	.;.;.	.;.;.	1.851629	0.23525	16.05	0.82680945385347615	0.14319	0.86212	0.45450	D	AEFBI	0.430607	0.49324	N	-0.610719799446432	0.18622	0.9682474	-0.355318616066524	0.26346	1.454564	0.981228701734756	0.30234	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.53	2.62	0.30337	2.879000	0.48220	3.275000	0.37188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2061:0.0:0.3535:0.4404	2.748	0.04947	845	0.36510	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	0.013595	0.010101	0.009511	0.043860	0.000000	0.025862	0.000000	0.003788	0.07143	1114.44	33	chr5	38407879	.	G	T	1114.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.695;DP=295;ExcessHet=0;FS=4.61;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-1.113;SOR=0.845	GT:AD:DP:GQ:PL	0/1:68,48:116:99:1125,0,1611	6	0	1	0
chr5	42711274	42711274	G	A	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon5:c.G620A:p.R207H,GHR:NM_001242406:exon6:c.G686A:p.R229H,GHR:NM_001242462:exon6:c.G686A:p.R229H,GHR:NM_000163:exon7:c.G686A:p.R229H,GHR:NM_001242399:exon7:c.G707A:p.R236H,GHR:NM_001242402:exon7:c.G686A:p.R229H,GHR:NM_001242403:exon7:c.G686A:p.R229H,GHR:NM_001242404:exon7:c.G686A:p.R229H,GHR:NM_001242405:exon7:c.G686A:p.R229H,GHR:NM_001242400:exon8:c.G686A:p.R229H,GHR:NM_001242401:exon8:c.G686A:p.R229H	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	265893	not_provided|not_specified|Short_stature_due_to_partial_GHR_deficiency|Laron-type_isolated_somatotropin_defect	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811|MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.808	0.0891640989754	0.0011	0.000798722	0.0013	0.0007	0.0013	0	0	0.0011	0.0022	0.0038	0.0011966	185	154602	rs6177	0.0008	0.0009	0.0007	0.0010	0.0080	0.0008	0.0008	0.0062	0.0055	0.0009	0.0014	0.0015	0	0	0.0080	0.0006	0.0016	0.0035	0.0008	0.0008	0.0007	0.0009	0.0017	0.0007	0.0006	0.0008	0.0006	0.0006	0.0011	0.0010	0.0023	0	9.427e-05	0.0102	0.0008	0.0024	0.0017	0.0	0.91255	D	0.318	0.76473	T	0.999	0.77913	D	0.703	0.54270	P	0.000004	0.62929	D	0.059628	1	0.81001	D	1.8	0.47472	L	-3.4	0.94260	D	-2.04	0.46842	N	0.533	0.63883	0.668	0.92766	D	0.814	0.93719	D	10	0.017771393	0.00381	T	0.089164	0.75273	D	0.808	0.93777	.	.	0.962138920921	0.96173	0.5664631436302645	0.56574	0.0555361329645	0.06140	0.433992952108	0.29755	T	0.410939	0.76553	T	0.124364	0.66809	D	0.404074	0.92243	D	0.0636626687296192	0.07732	T	0.977402	0.93081	D	0.6612151	0.75964	0.4502998	0.68010	0.6490725	0.75316	0.49604318	0.70857	-10.171	0.74929	D	0.5075309644939106	0.58176	0.183	0.48551	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.881359	0.80062	27.2	0.99934152013492705	0.99535	0.94192	0.60392	D	AEFI	0.757768	0.69662	D	0.565633455196316	0.71040	5.590686	0.577758325565778	0.73350	5.955826	0.999580486071164	0.40607	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	4.957000	0.63358	7.492000	0.59381	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	0.91844	496	0.76301	Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|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	0.008056	0.000000	0.014946	0.005848	0.050000	0.000000	0.006098	0.000000	0.1429	2076.65	74	chr5	42711274	.	G	A	2076.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.46;DP=326;ExcessHet=0.3476;FS=3.317;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.79;SOR=0.62	GT:AD:DP:GQ:PL	0/1:58,55:113:99:1328,0,1236	5	0	2	0
chr5	53048657	53048657	A	G	exonic	ITGA2	.	nonsynonymous SNV	ITGA2:NM_002203:exon6:c.A517G:p.I173V	.	0	1487	33	2	0	37	0.0122883	.	.	.	299875	Platelet-type_bleeding_disorder_9|not_provided	MONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200,Orphanet:73271,Orphanet:98886|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.077	0.00869945483086	0.0027	0.00239617	0.0032	0.0009	0.0021	0	0	0.0031	0.0055	0.0086	0.0030013	464	154602	rs55973669	0.0029	0.0029	0.0026	0.0033	0.0099	0.0029	0.0028	0.0093	0.0091	0.0004	0.0031	0.0047	2.519e-05	0.0003	0.0099	0.0026	0.0031	0.0098	0.0026	0.0026	0.0024	0.0028	0.0083	0.0024	0.0023	0.0063	0.0056	0.0007	0.0066	0.0069	0.0055	0.0002	9.461e-05	0.0068	0.0026	0.0043	0.0083	0.263	0.16412	T	0.207	0.26969	T	.	.	.	.	.	.	0.000001	0.62929	N	0.098626	0.94738	0.37566	D	.	.	.	0.59	0.53943	T	-0.25	0.11008	N	0.12	0.11054	-1.0351	0.18825	T	0.057	0.24018	T	10	0.00892508	0.00202	T	0.008699	0.22976	T	0.077	0.22490	.	.	0.594311586281	0.59109	0.286997681205675	0.28612	0.143906014604	0.16252	0.31325045228	0.12398	T	.	.	.	-0.542054	0.00326	T	-0.544719	0.17836	T	0.00466965039524367	0.00050	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25364	B	.	.	1.849660	0.23498	16.04	0.98223612721775777	0.39325	0.96449	0.69194	D	AEFBI	0.335782	0.43411	N	-0.468449192676952	0.23120	1.239301	-0.27737536356029	0.28844	1.61147	0.999168070309967	0.38622	0.732398	0.92422	0	0.59043	0.45803	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.28	2.93	0.33092	4.018000	0.56886	4.046000	0.41467	0.756000	0.94297	0.999000	0.42656	0.998000	0.33993	0.973000	0.55318	0.7856:0.0:0.2144:0.0	8.515	0.32403	856	0.34373	.	.	.	.	.	.	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	0.008056	0.010101	0.002717	0.005848	0.000000	0.008621	0.018293	0.007576	0.07143	1011.46	34	chr5	53048657	.	A	G	1011.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.717;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.103;SOR=0.701	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1022,0,956	6	0	1	0
chr5	53078860	53078860	A	G	exonic	ITGA2	.	nonsynonymous SNV	ITGA2:NM_002203:exon24:c.A2914G:p.I972V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0043289954532	.	.	1.669e-05	0	0	0	0	1.515e-05	0	6.134e-05	1.29e-05	2	154602	rs768656331	1.382e-05	1.368e-05	6.883e-06	2.08e-05	0.0002	9.02e-06	7.33e-06	0.0001	8.672e-05	3.02e-05	0	0	0	0	0.0002	2.728e-06	0	0.0002	6.567e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.228	0.18434	T	0.741	0.04965	T	.	.	.	.	.	.	0.036651	0.24496	N	0.467241	0.996991	0.22829	N	.	.	.	0.96	0.42888	T	0.03	0.06612	N	0.162	0.17002	-1.0316	0.19937	T	0.043	0.18493	T	10	0.20453233	0.36648	T	0.004329	0.10529	T	0.077	0.22490	0.497	0.58678	0.722511151654	0.72006	0.43664687925086015	0.43581	0.142493270988	0.16072	0.321484804153	0.13647	T	.	.	.	-0.400373	0.02303	T	-0.609285	0.12043	T	0.0458547994494438	0.04757	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03925	B	.	.	1.690701	0.21541	15.24	0.46914916789824296	0.03795	0.87389	0.46913	D	AEFBI	0.247855	0.36836	N	-0.508903291691409	0.21791	1.159063	-0.317421108530726	0.27535	1.528627	0.989529325078413	0.31854	0.706548	0.73137	0	0.59043	0.45803	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.86	0.782	0.17712	2.951000	0.48782	0.216000	0.16018	0.756000	0.94297	1.000000	0.71638	0.000000	0.08366	0.999000	0.91618	0.7356:0.0:0.2644:0.0	9.662	0.39127	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	810.49	38	chr5	53078860	.	A	G	810.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.165;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.521;SOR=0.717	GT:AD:DP:GQ:PL	0/1:47,39:86:99:821,0,1114	6	0	1	0
chr5	57481797	57481797	C	T	exonic	ACTBL2	.	nonsynonymous SNV	ACTBL2:NM_001017992:exon1:c.G911A:p.S304N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.124140796541	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987783633	8.209e-06	8.209e-06	1.225e-05	4.125e-06	2.987e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.987e-05	0	0	0	0	0	9.892e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.42436	T	0.481	0.36761	P	0.334	0.42203	B	0.000036	0.55875	D	0.072099	0.928003	0.36882	D	1.335	0.33326	L	-3.43	0.94388	D	-1.13	0.29114	N	0.219	0.24510	0.722	0.93450	D	0.765	0.92005	D	10	0.40600935	0.55897	T	0.124141	0.80544	D	0.419	0.72855	0.435	0.48664	0.656546064563	0.65367	0.6248713337822507	0.62420	0.23079206429	0.25627	0.662833452225	0.61815	T	0.461455	0.79822	T	0.0112226	0.53192	T	-0.221656	0.52578	T	0.865759253501892	0.51585	D	0.89601	0.63722	D	0.54673064	0.69773	0.45166394	0.68098	0.54673064	0.69774	0.45166394	0.68099	-6.994	0.53990	T	.	.	0.339	0.55815	B	.	.	3.690888	0.52591	23.3	0.96973734728229843	0.31831	0.90104	0.51023	D	AEFGBI	0.673737	0.63969	D	0.283758568777706	0.55324	3.696617	0.357520941943456	0.58960	4.070228	0.999985209611685	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.76	3.85	0.43556	4.733000	0.61730	0.816000	0.21801	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.6916:0.3084:0.0	11.756	0.51142	858	0.34001	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	3804.23	33	chr5	57481797	.	C	T	3804.23	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.83;DP=304;ExcessHet=0;FS=3.439;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=32.51;ReadPosRankSum=-1.703;SOR=0.562	GT:AD:DP:GQ:PL	1/1:1,116:117:99:3825,341,0	6	1	0	0
chr5	61332714	61332719	GGCGGC	-	exonic	ZSWIM6	.	nonframeshift deletion	ZSWIM6:NM_020928:exon1:c.442_447del:p.G153_G154del	Acromelic frontonasal dysostosis, Autosomal dominant	512	990	12	5	3	25	0.010989	.	.	.	215320	not_provided|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1411012430	0.0049	0.0031	0.0047	0.0051	0.0224	0.0048	0.0047	0.0187	0.0180	0.0015	0.0224	0.0069	0	0	0.0097	0.0046	0.0055	0.0205	0.0042	0.0043	0.0036	0.0047	0.0208	0.0039	0.0038	0.0173	0.0160	0.0015	0	0.0097	0.0079	0.0005	0.0032	0.0045	0.0036	0.0043	0.0208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	183.49	15	chr5	61332713	.	GGGCGGC	G	183.49	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.383;DP=105;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=0.624;SOR=0.18	GT:AD:DP:GQ:PL	0/1:6,5:11:99:193,0,236	5	0	1	1
chr5	64213809	64213809	A	T	exonic	RNF180	.	nonsynonymous SNV	RNF180:NM_001113561:exon4:c.A483T:p.R161S,RNF180:NM_001323292:exon4:c.A483T:p.R161S,RNF180:NM_178532:exon4:c.A483T:p.R161S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.00694615058039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	1.656e-05	3.478e-05	6.564e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.029	0.50132	D	0.193	0.28210	T	0.063	0.23376	B	0.022	0.19653	B	0.000325	0.45700	D	0.225617	1	0.81001	D	2.135	0.59519	M	0.9	0.45248	T	-0.87	0.30555	N	0.375	0.41754	-1.0360	0.18544	T	0.097	0.36315	T	10	0.15853018	0.29809	T	0.006946	0.18374	T	0.169	0.43123	0.173	0.07894	0.69073558454	0.68808	0.3526043766605974	0.35174	0.13547621356	0.15268	0.299977838993	0.10398	T	0.007095	0.06517	T	-0.0126463	0.49894	T	-0.255942	0.49228	T	0.651622712612152	0.38531	D	0.69863	0.30863	T	0.15705311	0.35409	0.17148396	0.39334	0.15705311	0.35408	0.17148396	0.39333	-2.592	0.07269	T	.	.	0.273	0.50708	B	.;.	.;.	2.203814	0.28108	17.69	0.98103433462395606	0.38294	0.77483	0.38102	D	AEFGBI	0.237750	0.35998	N	-0.12941183874101	0.36115	2.083296	0.0107640779916231	0.40214	2.396376	0.028920659430092	0.13858	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.56	4.41	0.52588	1.452000	0.34767	5.721000	0.49471	0.756000	0.94297	0.993000	0.37899	1.000000	0.68203	0.999000	0.91618	0.7881:0.1388:0.0731:0.0	7.821	0.28448	732	0.54084	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1239.44	33	chr5	64213809	.	A	T	1239.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.679;DP=299;ExcessHet=0;FS=2.516;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-2.063;SOR=0.626	GT:AD:DP:GQ:PL	0/1:55,50:105:99:1250,0,1389	6	0	1	0
chr5	65660736	65660736	A	G	exonic	TRAPPC13	.	nonsynonymous SNV	TRAPPC13:NM_001365342:exon8:c.A247G:p.M83V,TRAPPC13:NM_001365343:exon8:c.A247G:p.M83V,TRAPPC13:NM_001093756:exon9:c.A718G:p.M240V,TRAPPC13:NM_001243737:exon9:c.A718G:p.M240V,TRAPPC13:NM_001093755:exon10:c.A736G:p.M246V,TRAPPC13:NM_024941:exon10:c.A736G:p.M246V	.	433	1062	27	0	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	.	0.0004	0.00259585	0.0026	0.0003	0.0007	0	0	0.0014	0.0046	0.0130	0.0022251	344	154602	rs201906257	0.0014	0.0014	0.0010	0.0018	0.0120	0.0014	0.0013	0.0114	0.0111	0.0002	0.0014	0.0050	5.05e-05	7.495e-05	0.0054	0.0006	0.0019	0.0120	0.0011	0.0011	0.0010	0.0012	0.0104	0.0010	0.0009	0.0081	0.0073	0.0002	0	0.0009	0.0046	0	0	0.0068	0.0010	0.0028	0.0104	0.293	0.14843	T	0.303	0.20164	T	0.04	0.21238	B	0.102	0.30857	B	0.000014	0.62929	D	0.179778	0.972853	0.38979	D	2.3	0.65703	M	.	.	.	-1.71	0.40660	N	0.537	0.56919	-0.9756	0.35993	T	0.125	0.43028	T	9	0.012631506	0.00271	T	.	.	.	0.340	0.66202	.	.	0.198222871337	0.19423	0.38801875383540524	0.38716	0.484728417222	0.47373	0.586839914322	0.51049	T	0.045821	0.27239	T	-0.317096	0.07139	T	-0.217875	0.52942	T	0.0239845453986895	0.01143	T	0.946005	0.79398	D	0.13417049	0.31182	0.108112514	0.26037	0.13417049	0.31182	0.108112514	0.26037	-8.092	0.62027	D	.	.	0.107	0.21616	B	.;.;.;.	.;.;.;.	3.128645	0.42264	21.5	0.95595567329373277	0.27324	0.91225	0.53106	D	AEFBI	0.445405	0.50190	N	-0.151747385742028	0.35160	2.016076	0.0128654453405862	0.40310	2.403735	0.0186964224830056	0.13087	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.93	3.68	0.41359	3.615000	0.53908	6.008000	0.52598	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7027:0.1517:0.0:0.1456	7.105	0.24539	901	0.24189	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.001359	0.002924	0.000000	0.025862	0.012195	0.015152	0.07143	904.63	33	chr5	65660736	.	A	G	904.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.828;DP=257;ExcessHet=0;FS=5.805;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.355;SOR=0.287	GT:AD:DP:GQ:PL	0/1:39,42:81:99:915,0,952	6	0	1	0
chr5	79316194	79316194	G	A	exonic	JMY	.	nonsynonymous SNV	JMY:NM_152405:exon10:c.G2854A:p.D952N	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.012120979253	0.0017	.	0.0012	0.0002	0.0008	0.0001	0.0003	0.0016	0	0.0010	0.0011772	182	154602	rs34067120	0.0024	0.0024	0.0024	0.0024	0.0029	0.0023	0.0023	0.0028	0.0028	0.0004	0.0006	0	0	0.0006	0.0002	0.0029	0.0023	0.0013	0.0012	0.0012	0.0016	0.0009	0.0022	0.0011	0.0010	0.0019	0.0018	0.0003	0	0.0009	0	0	0.0004	0	0.0022	0	0.0015	0.036	0.43393	D	0.132	0.34477	T	1.0	0.90584	D	0.987	0.77487	D	0.000094	0.51296	D	0.128773	0.99994	0.51968	D	0.345	0.11182	N	1.44	0.32722	T	0.05	0.06369	N	0.144	0.14480	-1.0479	0.14988	T	0.151	0.47839	T	10	0.02658251	0.00822	T	0.012121	0.30406	T	0.127	0.34888	.	.	0.43774664317	0.43397	0.20151610551399657	0.20068	.	.	0.651995480061	0.60269	T	0.022364	0.17257	T	-0.552606	0.00281	T	-0.572104	0.15257	T	0.0318771058132551	0.02285	T	0.913009	0.68959	D	0.059388973	0.12065	0.08072719	0.18285	0.059388973	0.12065	0.08072719	0.18284	-10.544	0.77100	D	.	.	0.181	0.39322	B	.	.	4.709352	0.75645	26.4	0.999142610475244	0.98309	0.96697	0.70458	D	AEFBI	0.756006	0.69540	D	0.65906677822694	0.76957	6.58302	0.688399187815661	0.81496	7.540676	0.998914578684026	0.37962	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.65	5.65	0.86881	6.869000	0.75317	11.792000	0.96402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.718	0.96127	620	0.66037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	783.49	35	chr5	79316194	.	G	A	783.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.55;DP=263;ExcessHet=0;FS=1.923;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.24;SOR=0.955	GT:AD:DP:GQ:PL	0/1:47,32:79:99:794,0,1085	6	0	1	0
chr5	79791029	79791029	G	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon11:c.G11749C:p.G3917R	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0144334920719	0.0006	0.000599042	0.0007	0	0.0004	0	0	0.0003	0.0035	0.0032	0.0005369	83	154602	rs200251867	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	8.961e-05	2.237e-05	0	0	1.873e-05	0.0012	0.0003	0.0006	0.0033	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	9.624e-05	0	0.0002	0	0	0	0	0.0004	0.0009	0.0027	0.053	0.38863	T	0.007	0.69154	D	1.0	0.90584	D	0.982	0.75477	D	.	.	.	.	0.712277	0.33531	D	0.45	0.12780	N	2.54	0.13916	T	-4.25	0.76094	D	0.777	0.77413	-0.9310	0.43992	T	0.047	0.20235	T	9	0.06256446	0.08018	T	0.014433	0.34542	T	0.228	0.52768	0.429	0.47680	0.490282680104	0.48660	0.43527896108451636	0.43444	0.0677024119643	0.07574	0.652367353439	0.60322	T	0.045767	0.27224	T	-0.48586	0.00685	T	-0.472471	0.25251	T	0.0931471727865737	0.11586	T	0.824218	0.48580	T	0.2376065	0.46627	0.2638827	0.52200	0.2376065	0.46627	0.2638827	0.52199	-6.313	0.48824	T	.	.	0.441	0.61750	A	.	.	4.015372	0.59269	24.1	0.98584967116556244	0.43297	0.98004	0.78799	D	AEFBI	0.635162	0.61477	D	0.379240412339841	0.60297	4.217277	0.4077176253207	0.62044	4.413534	0.0688708157179204	0.15472	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	6.05	5.18	0.71140	5.101000	0.64402	9.795000	0.81665	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.520000	0.29475	0.067:0.0:0.933:0.0	15.268	0.73371	480	0.77422	B30.2/SPRY 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	0.000000	0.002924	0.000000	0.000000	0.003049	0.018939	0.07143	1160.53	34	chr5	79791029	.	G	C	1160.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.262;DP=302;ExcessHet=0;FS=3.397;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-0.365;SOR=1.012	GT:AD:DP:GQ:PL	0/1:62,53:115:99:1171,0,1490	6	0	1	0
chr5	90652438	90652438	A	G	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon19:c.A3509G:p.Y1170C	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	55483	Usher_syndrome_type_2C|Febrile_seizures,_familial,_4|not_specified|not_provided	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MONDO:MONDO:0011443,MedGen:C1858493,OMIM:604352|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	0.112513367644	0.0011	0.000599042	0.0007	0.0001	0.0003	0	0	0.0012	0	0.0003	0.0007309	113	154602	rs188772875	0.0010	0.0010	0.0010	0.0010	0.0013	0.0009	0.0009	0.0011	0.0011	0.0003	0.0013	3.828e-05	0	0.0001	0.0007	0.0012	0.0011	0.0003	0.0008	0.0008	0.0008	0.0009	0.0027	0.0007	0.0007	0.0020	0.0018	0.0004	0	0.0027	0	0	0	0	0.0010	0	0.0004	0.077	0.34095	T	0.029	0.54541	D	0.994	0.66517	D	0.887	0.62952	P	0.014628	0.28476	N	0.424017	0.918838	0.36617	D	.	.	.	1.66	0.27486	T	-3.39	0.66896	D	0.33	0.37093	-1.0184	0.24236	T	0.099	0.36907	T	10	0.026765376	0.00836	T	0.112513	0.79069	D	0.162	0.41843	.	.	0.715466172255	0.71297	0.5428992786814775	0.54214	0.128789058085	0.14521	0.465694665909	0.34090	T	0.131555	0.46112	T	-0.335124	0.05734	T	-0.267389	0.48082	T	0.0516345028638372	0.05784	T	0.843516	0.52087	T	0.15152639	0.34443	0.14965385	0.35326	0.15152639	0.34442	0.14965385	0.35325	-7.514	0.57709	D	.	.	0.083	0.11220	B	.;.;.	.;.;.	3.418152	0.47452	22.5	0.99754735013798723	0.84537	0.86839	0.46209	D	AEFBI	0.346477	0.44128	N	0.458673270004431	0.64697	4.730137	0.508486582942215	0.68558	5.236919	0.99999524171452	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.463624	0.06942	0	0.542086	0.14980	0	.	.	6.07	6.07	0.98675	1.100000	0.30637	2.604000	0.33538	0.691000	0.84096	0.997000	0.40164	1.000000	0.68203	0.994000	0.71098	0.8103:0.0:0.067:0.1227	8.030	0.29622	665	0.61472	.;.;Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.1429	1137.02	28	chr5	90652438	.	A	G	1137.02	.	AC=2;AF=0.143;AN=14;DP=185;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.07;SOR=1.127	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1157,126,0	6	1	0	0
chr5	119133212	119133212	A	C	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon11:c.A1396C:p.S466R,DMXL1:NM_001290322:exon11:c.A877C:p.S293R,DMXL1:NM_005509:exon11:c.A1396C:p.S466R,DMXL1:NM_001349239:exon12:c.A1396C:p.S466R,DMXL1:NM_001349240:exon12:c.A1396C:p.S466R	.	427	1067	28	0	0	28	0.012951	.	.	.	698741	DMXL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0031	0.00798722	0.0066	0.0007	0.0017	0	0.0068	0.0061	0.0088	0.0189	0.0060866	941	154602	rs142000355	0.0046	0.0046	0.0042	0.0050	0.0187	0.0045	0.0045	0.0179	0.0176	0.0009	0.0025	0.0169	5.039e-05	0.0055	0.0094	0.0034	0.0061	0.0187	0.0039	0.0039	0.0037	0.0041	0.0193	0.0037	0.0035	0.0161	0.0149	0.0006	0.0033	0.0034	0.0164	0	0.0048	0.0034	0.0045	0.0047	0.0193	0.078	0.33923	T	0.204	0.27235	T	0.019	0.36941	B	0.02	0.34536	B	0.003207	0.35270	N	0.354726	0.839989	0.35051	D	1.965	0.53209	M	0.84	0.47477	T	-2.2	0.49519	N	0.405	0.58968	-1.0226	0.22866	T	0.054	0.22997	T	10	0.0034649074	0.00061	T	.	.	.	0.085	0.24743	0.211	0.12923	0.316918214084	0.31302	0.26826068777558765	0.26739	0.0836088970448	0.09429	0.356339156628	0.18851	T	0.066931	0.33072	T	-0.442592	0.01249	T	-0.393592	0.34132	T	0.0104915088462671	0.00145	T	0.808019	0.46271	T	0.07245605	0.16118	0.08032456	0.18162	0.07245605	0.16118	0.08032456	0.18161	-6.054	0.46728	T	.	.	0.201	0.47557	B	.;.;.	.;.;.	2.234974	0.28534	17.83	0.95959325265076945	0.28295	0.43055	0.27014	N	AEFGBI	0.178236	0.30549	N	-0.44553844061359	0.23892	1.286213	-0.369960080323475	0.25897	1.42706	0.0185162500457033	0.13067	0.732398	0.92422	0	0.724815	0.89359	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	5.32	4.18	0.48473	0.514000	0.22492	2.835000	0.35045	0.691000	0.84096	0.632000	0.28016	1.000000	0.68203	0.100000	0.18284	0.7225:0.166:0.1115:0.0	5.926	0.18350	885	0.28214	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.005051	0.008152	0.011696	0.050000	0.000000	0.018293	0.011364	0.07143	1732.53	35	chr5	119133212	.	A	C	1732.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.764;DP=351;ExcessHet=0;FS=5.59;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.906;SOR=0.408	GT:AD:DP:GQ:PL	0/1:89,79:168:99:1743,0,2194	6	0	1	0
chr5	119171184	119171184	A	C	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon24:c.A6393C:p.R2131S,DMXL1:NM_001290322:exon24:c.A5874C:p.R1958S,DMXL1:NM_005509:exon24:c.A6393C:p.R2131S,DMXL1:NM_001349239:exon25:c.A6393C:p.R2131S,DMXL1:NM_001349240:exon25:c.A6393C:p.R2131S	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.249732951472	0.0002	0.000199681	0.0002	9.643e-05	0	0	0	0.0003	0	0.0004	0.000207	32	154602	rs146373954	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	8.962e-05	0.0001	0.0024	0	3.744e-05	0.0005	0.0001	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.011e-05	2.406e-05	0	6.533e-05	0.0026	0	0	0	0.0002	0	0.0006	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	0.999869	0.50061	D	2.69	0.78713	M	-1.43	0.80730	T	-5.9	0.88839	D	0.932	0.93723	0.131	0.84729	D	0.623	0.86709	D	10	0.6230507	0.68087	D	0.249733	0.89063	D	0.722	0.90191	0.661	0.79894	0.868058055843	0.86678	0.7859007356844657	0.78541	0.381255657936	0.39490	0.689555168152	0.65641	T	0.261305	0.75915	T	0.11688	0.66058	D	0.25208	0.85720	D	0.300603121338385	0.25029	T	0.950205	0.80929	D	0.8534152	0.87589	0.67058027	0.80671	0.8534152	0.87590	0.67058027	0.80672	-9.301	0.69613	D	.	.	0.984	0.92711	P	.;.	.;.	3.101558	0.41800	21.4	0.99440918068463635	0.64770	0.82278	0.41530	D	AEFBI	0.377276	0.46110	N	0.162459343134093	0.49403	3.141138	0.0730052839293168	0.43198	2.626455	0.0421272888033435	0.14513	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.5	1.13	0.19758	0.809000	0.26827	2.485000	0.32957	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.64:0.0:0.36:0.0	9.601	0.38772	901	0.24189	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003788	0.07143	1258.53	35	chr5	119171184	.	A	C	1258.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=280;ExcessHet=0;FS=2.672;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.047;SOR=1.022	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1269,0,1198	6	0	1	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P,HSD17B4:NM_000414:exon13:c.T1105C:p.S369P,HSD17B4:NM_001292028:exon13:c.T685C:p.S229P,HSD17B4:NM_001374497:exon13:c.T1096C:p.S366P,HSD17B4:NM_001374498:exon13:c.T1105C:p.S369P,HSD17B4:NM_001374499:exon13:c.T778C:p.S260P,HSD17B4:NM_001374501:exon13:c.T694C:p.S232P,HSD17B4:NM_001374502:exon13:c.T694C:p.S232P,HSD17B4:NM_001199291:exon14:c.T1180C:p.S394P,HSD17B4:NM_001292027:exon14:c.T1033C:p.S345P,HSD17B4:NM_001374500:exon14:c.T664C:p.S222P,HSD17B4:NM_001374503:exon14:c.T694C:p.S232P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	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	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	422.37	37	chr5	119499449	.	T	C	422.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.479;DP=352;ExcessHet=1.1394;FS=223.216;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=2.18;SOR=8.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,14:60:99:0|1:119499447_G_C:168,0,1569:119499447	4	0	3	0
chr5	126545018	126545018	T	C	exonic	ALDH7A1	.	nonsynonymous SNV	ALDH7A1:NM_001202404:exon16:c.A1375G:p.T459A,ALDH7A1:NM_001182:exon18:c.A1567G:p.T523A,ALDH7A1:NM_001201377:exon18:c.A1483G:p.T495A	Epilepsy, pyridoxine-dependent, Autosomal recessive	4	1510	7	1	0	9	0.00297128	0.7900	0.478	YES	191988	not_specified|Pyridoxine-dependent_epilepsy|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.853	.	0.0057	0.00119808	0.0045	0.0011	0.0013	0	0.0112	0.0059	0.0022	0.0030	0.0045278	700	154602	rs61757684	0.0056	0.0057	0.0058	0.0054	0.0060	0.0055	0.0055	0.0058	0.0058	0.0012	0.0013	0.0112	0	0.0102	0.0010	0.0060	0.0046	0.0038	0.0039	0.0039	0.0039	0.0039	0.0055	0.0037	0.0036	0.0050	0.0049	0.0009	0	0.0016	0.0101	0	0.0103	0	0.0055	0.0033	0.0025	0.001	0.78490	D	0.016	0.60972	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.01	0.25309	L	-2.72	0.90622	D	-4.73	0.80085	D	0.782	0.77883	0.598	0.91874	D	0.737	0.91004	D	10	0.015203267	0.00319	T	.	.	.	0.853	0.95470	.	.	0.834795797098	0.83322	0.8587515047953634	0.85838	0.646926983572	0.58097	0.717225492001	0.69643	T	0.806485	0.95118	D	0.0712838	0.61005	D	0.334745	0.89704	D	0.018689569022309	0.00582	T	0.965003	0.88196	D	0.90261525	0.91618	0.792654	0.87810	0.9126809	0.92547	0.72768456	0.83913	-9.723	0.73570	D	.	.	0.505	0.77325	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.928635	0.81244	27.5	0.9975172354874553	0.84305	0.98253	0.80960	D	AEFBI	0.874250	0.79703	D	0.625386349305992	0.74785	6.191944	0.577423764794868	0.73326	5.951972	0.999998735587552	0.74766	0.651	0.46895	0	0.610034	0.51514	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	4.78	4.78	0.60666	6.900000	0.75508	6.143000	0.54081	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.702000	0.34203	0.0:0.0:0.0:1.0	12.984	0.57981	678	0.60190	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	794.32	25	chr5	126545018	.	T	C	794.32	.	AC=2;AF=0.143;AN=14;DP=178;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.55;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,26:26:78:815,78,0	6	1	0	0
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	338.9	99	chr5	141173766	.	G	C	338.9	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.271;DP=875;ExcessHet=1.1394;FS=200.776;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=1.42;SOR=10.125	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,38:194:12:0|1:141173765_G_C:12,0,4408:141173765	2	0	3	2
chr5	141225285	141225285	G	A	exonic	PCDHB14	.	nonsynonymous SNV	PCDHB14:NM_018934:exon1:c.G1780A:p.G594S	.	31	1345	146	0	0	146	0.051481	.	.	.	2333946	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00812370171638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0011	0.0002	0.0004	0.0010	0.0003	0.0003	0.0003	0.0003	6.028e-05	4.557e-05	0.0001	0.0003	0.0006	0.0010	0.0003	0.0003	0.0002	2.633e-05	0.0001	3.859e-05	1.348e-05	4.421e-05	8.15e-06	5.15e-06	1.174e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.421e-05	0	0	0.129	0.26852	T	0.231	0.37310	T	0.126	0.26920	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0.515	0.13537	N	0.82	0.48142	T	-3.18	0.64478	D	0.034	0.13769	-1.0398	0.17374	T	0.069	0.28147	T	9	0.19781601	0.35727	T	0.008124	0.21521	T	0.070	0.20419	.	.	0.565131857978	0.56177	0.36686842792872654	0.36600	0.245885684845	0.27115	0.580103754997	0.50101	T	0.009182	0.08373	T	-0.211783	0.19127	T	-0.541988	0.18101	T	0.156878933310509	0.17638	T	0.690631	0.30012	T	0.08944512	0.20898	0.1374503	0.32854	0.08944512	0.20898	0.1374503	0.32853	-9.129	0.68523	D	.	.	0.094	0.14523	B	.;.	.;.	2.012059	0.25564	16.81	0.98644404939967945	0.44096	0.16045	0.19205	N	AEFI	0.149542	0.27365	N	-0.635078871570523	0.17897	0.9248997	-0.577513812790395	0.20079	1.080253	5.80256062791124E-5	0.04171	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.03	1.07	0.19399	2.189000	0.42253	.	.	0.565000	0.28586	0.032000	0.20554	0.000000	0.08366	0.950000	0.49671	0.183:0.1562:0.6608:0.0	6.374	0.20703	688	0.59122	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	76.23	28	chr5	141225285	.	G	A	76.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.3;DP=225;ExcessHet=0;FS=1.348;MLEAC=1;MLEAF=0.083;MQ=34.62;MQRankSum=-0.831;QD=1.17;ReadPosRankSum=-0.027;SOR=0.948	GT:AD:DP:GQ:PL	0/1:55,10:65:86:86,0,1559	5	0	1	1
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	2953.65	85	chr5	141303079	.	C	G	2953.65	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-5.028;DP=946;ExcessHet=6.1542;FS=234.538;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.09;ReadPosRankSum=1.62;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:137,43:193:99:.:.:1081,0,4482:.	1	0	4	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	.	.	.	.	.	.	.	.	0.5	4033.26	85	chr5	141303081	.	A	G	4033.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.252;DP=994;ExcessHet=11.5949;FS=239.513;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.32;ReadPosRankSum=1.4;SOR=9.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:137,63:200:99:.:.:1268,0,4445:.	0	0	6	1
chr5	141361949	141361949	C	A	exonic	PCDHGB2	.	nonsynonymous SNV	PCDHGB2:NM_018923:exon1:c.C1814A:p.S605Y,PCDHGB2:NM_032096:exon1:c.C1814A:p.S605Y	.	40	1417	59	6	0	71	0.0244406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453	.	0.0007	0.0111821	0.0094	0.0008	0.0010	0	0	0.0024	0.0099	0.0485	0.0035731	93	26028	rs202129585	0.0039	0.0039	0.0025	0.0053	0.0453	0.0038	0.0038	0.0442	0.0437	0.0003	0.0008	0.0043	0.0001	0.0002	0.0201	0.0011	0.0049	0.0453	0.0026	0.0026	0.0018	0.0034	0.0445	0.0024	0.0023	0.0396	0.0378	0.0002	0	0.0015	0.0040	0.0004	9.422e-05	0.0238	0.0016	0.0038	0.0445	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.92359	D	.	.	.	.	1	0.81001	D	3.76	0.95097	H	0.61	0.53516	T	-5.11	0.83092	D	0.667	0.68169	-0.6087	0.64458	T	0.348	0.71289	T	9	0.012059331	0.00261	T	.	.	.	0.453	0.75279	.	.	0.761273591808	0.75910	0.5139250221706769	0.51314	.	.	.	.	.	0.064256	0.32388	T	-0.245092	0.14705	T	-0.0905257	0.64122	T	0.0981431249967783	0.12151	T	0.937306	0.81867	D	0.7034151	0.78244	0.70926154	0.82853	0.7034151	0.78245	0.70926154	0.82854	-14.381	0.95005	D	.	.	0.392	0.59148	A	.;.	.;.	4.209486	0.63584	24.6	0.99200775043280909	0.55261	0.98332	0.81714	D	AEFBI	0.752301	0.69284	D	0.605565791628079	0.73526	5.980558	0.510155191627467	0.68672	5.252489	0.965311217015781	0.28822	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.616125	0.45549	0	.	.	4.81	3.94	0.44807	3.899000	0.56000	.	.	0.544000	0.25403	0.990000	0.36992	0.999000	0.35428	0.998000	0.85391	0.0:0.9194:0.0:0.0806	12.961	0.57857	648	0.63242	.;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	0.017553	0.005102	0.004076	0.024793	0.050000	0.008772	0.018519	0.045455	0.1429	4130.32	36	chr5	141361949	.	C	A	4130.32	.	AC=2;AF=0.143;AN=14;DP=290;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=37.09;QD=30.09;SOR=1.129	GT:AD:DP:GQ:PL	1/1:0,113:113:99:4151,339,0	6	1	0	0
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	.	.	.	.	.	.	.	.	0.3571	684.11	39	chr5	141400463	.	A	G	684.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-6.424;DP=1058;ExcessHet=4.7409;FS=235.068;MLEAC=5;MLEAF=0.357;MQ=59.99;MQRankSum=0;QD=0.72;ReadPosRankSum=1.47;SOR=9.773	GT:AD:DP:GQ:PL	0/1:228,79:307:99:191,0,4375	2	0	5	0
chr5	141422807	141422807	G	A	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_018914:exon1:c.G1580A:p.R527Q,PCDHGA11:NM_032091:exon1:c.G1580A:p.R527Q,PCDHGA11:NM_032092:exon1:c.G1580A:p.R527Q	.	11	1487	23	1	0	25	0.00833611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0007	0.0061901	0.0038	0.0001	0.0006	0.0001	0	0.0019	0.0055	0.0195	0.0033441	517	154602	rs199507728	0.0020	0.0020	0.0014	0.0026	0.0183	0.0019	0.0019	0.0176	0.0173	0.0002	0.0006	0.0043	0.0002	0.0002	0.0113	0.0009	0.0026	0.0183	0.0015	0.0015	0.0012	0.0018	0.0205	0.0013	0.0013	0.0172	0.0160	9.623e-05	0	0.0008	0.0040	0.0004	9.413e-05	0.0136	0.0013	0.0014	0.0205	0.425	0.10874	T	0.25	0.23707	T	0.304	0.37393	B	0.044	0.31143	B	0.255422	0.15422	N	0.351137	0.999938	0.19363	N	0.645	0.16088	N	0.15	0.60734	T	-1.72	0.45404	N	0.043	0.04426	-1.0683	0.09791	T	0.087	0.33718	T	10	0.0035232902	0.00063	T	.	.	.	0.060	0.17295	.	.	0.570128362464	0.56678	0.0724609524383448	0.07183	0.539253451491	0.51157	.	.	.	0.006777	0.06208	T	-0.588445	0.00171	T	-0.6031	0.12552	T	0.00403512760185142	0.00043	T	0.876412	0.60517	D	0.026217287	0.01651	0.040891923	0.04523	0.026217287	0.01651	0.040891923	0.04522	-5.866	0.47452	T	.	.	0.073	0.05274	B	.;.;.	.;.;.	0.689435	0.10580	7.287	0.92052471578566164	0.21396	0.07131	0.13157	N	AEFDBHCI	0.091924	0.18615	N	-0.852786668613908	0.11981	0.5813239	-0.815637048781199	0.14116	0.7359606	0.999996972298098	0.74766	0.609539	0.35627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.63947	0.58350	0	.	.	5.76	2.8	0.31881	1.040000	0.29888	.	.	-0.698000	0.04070	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.426:0.0:0.574:0.0	8.167	0.30395	819	0.41190	.;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	0.005035	0.005051	0.001359	0.005848	0.050000	0.008621	0.003049	0.011364	0.1429	8397.22	50	chr5	141422807	.	G	A	8397.22	.	AC=2;AF=0.143;AN=14;DP=479;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.42;SOR=0.96	GT:AD:DP:GQ:PL	1/1:0,259:259:99:8418,777,0	6	1	0	0
chr5	149027790	149027790	G	A	exonic	SH3TC2	.	nonsynonymous SNV	SH3TC2:NM_024577:exon11:c.C1942T:p.R648W	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	302044	Charcot-Marie-Tooth_disease_type_4|Susceptibility_to_mononeuropathy_of_the_median_nerve,_mild|Charcot-Marie-Tooth_disease_type_4C|Hereditary_motor_and_sensory_neuropathy|not_provided	MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596,Orphanet:99949|MONDO:MONDO:0015358,MedGen:C0027888|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.415	0.110346206885	.	0.000998403	0.0007	0.0002	0.0003	0.0006	0	3.023e-05	0	0.0045	0.0006015	93	154602	rs537049075	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0024	0	0.0002	0	0.0002	0	0.0002	2.608e-05	0.0004	0.0029	0.0001	0.0001	7.708e-05	0.0002	0.0031	8.162e-05	6.719e-05	0.0019	0.0015	7.215e-05	0	0	0	0	0	0	1.47e-05	0	0.0031	0.002	0.72154	D	0.002	0.79402	D	0.996	0.68779	D	0.708	0.54437	P	0.000788	0.41772	D	0.207467	0.994014	0.42749	D	2.24	0.63355	M	-0.32	0.68181	T	-3.94	0.73378	D	0.399	0.46462	-0.3623	0.73195	T	0.350	0.71383	T	10	0.013718247	0.00290	T	0.110346	0.78769	D	0.415	0.72555	.	.	0.902412248812	0.90143	0.544308950624314	0.54356	0.223994126687	0.24918	0.470833271742	0.34794	T	0.432276	0.78010	T	-0.268917	0.11878	T	-0.159577	0.58391	T	0.128516289445213	0.15243	T	0.960404	0.85096	D	0.18608673	0.40001	0.2734842	0.53268	0.20588624	0.42745	0.25333476	0.50978	-7.678	0.58855	D	0.3664969994616151	0.46244	0.140	0.30582	B	.;.	.;.	4.743446	0.76522	26.5	0.99902674874812725	0.97426	0.97140	0.72924	D	AEFDBI	0.896548	0.83774	D	0.636880852293556	0.75524	6.320926	0.653289031186836	0.78855	6.961151	0.999999999537996	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	6.03	6.03	0.97798	5.867000	0.69350	8.617000	0.77794	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.225000	0.22599	0.0:0.0:0.7437:0.2563	13.442	0.60571	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	2277.9	22	chr5	149027790	.	G	A	2277.9	.	AC=2;AF=0.167;AN=12;DP=233;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.78;SOR=1.061	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2297,222,0	5	1	0	1
chr5	151027505	151027505	G	C	exonic	GPX3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	0.000399361	2.49e-05	0	8.645e-05	0	0	0	0	0.0001	3.23e-05	5	154602	rs558592006	7.532e-06	7.525e-06	2.726e-06	1.239e-05	0.0001	4.04e-06	2.95e-06	5.398e-05	4.044e-05	0	2.237e-05	0	0	0	0	0	1.657e-05	0.0001	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.532e-05	0	0	0	0	0	0	0.0002	0.087	0.32453	T	0.092	0.39954	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.075	0.27130	L	3.7	0.04079	T	-1.87	0.43717	N	0.758	0.75650	-1.1045	0.03588	T	0.021	0.09056	T	10	0.17810673	0.32879	T	.	.	.	0.235	0.53788	0.536	0.64585	0.501810158561	0.49816	.	.	1.16102251393	0.79485	0.608972012997	0.54170	T	0.157066	0.49951	T	-0.314431	0.07363	T	-0.486781	0.23728	T	0.582048367362653	0.35697	D	0.951205	0.81406	D	0.45689487	0.64478	0.1813814	0.40999	0.45689487	0.64479	0.1813814	0.40998	.	.	.	.	.	0.493	0.64261	A	.;.	.;.	5.024314	0.83521	28.1	0.98399374932731942	0.41052	0.98081	0.79437	D	AEFDBHCI	0.919317	0.88968	D	0.443791787925146	0.63851	4.627076	0.54113019012773	0.70781	5.556115	0.999999999396789	0.74766	0.744818	0.98587	0	0.379588	0.06130	0	0.732433	0.93434	0	0.683762	0.67416	0	.	.	5.59	5.59	0.84677	8.770000	0.91393	11.768000	0.95790	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0708:0.0:0.9292:0.0	14.771	0.69300	835	0.38313	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2100.63	33	chr5	151027505	.	G	C	2100.63	.	AC=2;AF=0.143;AN=14;DP=248;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.39;SOR=0.992	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2121,222,0	6	1	0	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	612.82	72	chr5	154834880	.	G	C	612.82	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.109;DP=616;ExcessHet=6.1542;FS=233.663;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=1.15;SOR=10.163	GT:AD:DP:GQ:PL	0/1:108,24:139:6:6,0,2183	1	0	5	1
chr5	156851079	156851079	G	A	exonic	PPP1R2B	.	nonsynonymous SNV	PPP1R2B:NM_206858:exon1:c.G517A:p.E173K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.777e-06	1.577e-06	3.625e-06	0	2.479e-06	3e-07	1.1e-07	4.1e-07	1.5e-07	0	0	0	0	0	0	2.479e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39070764	0.54870	T	.	.	.	.	.	.	.	.	.	0.19709983115885485	0.19626	.	.	.	.	.	0.227446	0.59274	T	.	.	.	.	.	.	.	.	.	0.762324	0.38756	T	0.038285147	0.05070	0.17876568	0.40567	0.038285147	0.05070	0.17876568	0.40567	-6.38	0.49353	T	.	.	0.105	0.19357	B	.	.	2.276277	0.29103	18.01	0.83857666061755176	0.14959	0.79821	0.39630	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.180069036060123	0.17859	0.294411	0.05044	0	0.304816	0.05638	0	0.277913	0.05378	0	0.347871	0.05795	0	0.631564	0.41391	1.41	1.41	0.21461	3.796000	0.55211	6.879000	0.56809	0.171000	0.17763	1.000000	0.71638	1.000000	0.68203	0.503000	0.29084	0.0:0.0:1.0:0.0	8.870	0.34469	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	613.86	83	chr5	156851079	.	G	A	613.86	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.691;DP=541;ExcessHet=1.1394;FS=326.493;MLEAC=1;MLEAF=0.083;MQ=56.42;MQRankSum=-2.902;QD=1.96;ReadPosRankSum=1.02;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,30:83:99:.:.:138,0,802:.	5	0	1	1
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	40550.0	325	chr5	157052557	.	C	*	40550.0	.	AC=9;AF=0.643;AN=14;BaseQRankSum=0.603;DP=3008;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.37;SOR=0.722	GT:AD:DP:GQ:PL	1/1:0,506:506:99:22494,1533,0	2	4	1	0
chr5	160565578	160565578	G	A	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon25:c.C4261T:p.L1421F,ATP10B:NM_001366655:exon25:c.C4261T:p.L1421F,ATP10B:NM_001366657:exon25:c.C4225T:p.L1409F,ATP10B:NM_025153:exon26:c.C4261T:p.L1421F	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0046	0.00998403	0.0043	0.0153	0.0011	0.0073	0	2.997e-05	0.0056	0.0177	0.0039133	605	154602	rs61734664	0.0018	0.0018	0.0014	0.0022	0.0182	0.0017	0.0017	0.0175	0.0172	0.0154	0.0007	0	0.0052	0	0.0012	6.385e-05	0.0028	0.0182	0.0047	0.0047	0.0045	0.0048	0.0158	0.0044	0.0043	0.0129	0.0123	0.0136	0	0.0008	0	0.0081	0	0	0.0001	0.0033	0.0158	0.24	0.17701	T	0.738	0.05018	T	0.001	0.07471	B	0.002	0.06944	B	0.079211	0.20998	N	0.442392	1	0.08975	N	0.46	0.12951	N	0.89	0.45636	T	-0.52	0.16187	N	0.035	0.01004	-1.0430	0.16413	T	0.044	0.18783	T	9	0.004099667	0.00080	T	.	.	.	0.064	0.18567	.	.	0.380223377699	0.37629	0.07079351427242406	0.07016	0.0846576647168	0.09566	0.228478685021	0.01857	T	0.004191	0.03601	T	-0.691058	0.00041	T	-0.751153	0.03441	T	0.00179444766714016	0.00018	T	0.607939	0.22935	T	0.055694077	0.10857	0.06809045	0.14173	0.055694077	0.10856	0.06809045	0.14172	-4.605	0.32234	T	.	.	0.068	0.02927	B	.;.	.;.	0.378158	0.07500	4.146	0.96907846392621111	0.31566	0.05978	0.11939	N	AEFDHIJ	0.049509	0.08561	N	-0.783032262373867	0.13752	0.679773	-0.741836468698896	0.15923	0.8398563	0.0550910044288657	0.15002	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.58	3.69	0.41483	0.651000	0.24559	1.445000	0.26559	0.676000	0.76740	0.116000	0.23103	0.798000	0.26924	0.693000	0.33928	0.2407:0.0:0.7593:0.0	6.741	0.22623	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.07143	1935.44	36	chr5	160565578	.	G	A	1935.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.66;DP=387;ExcessHet=0;FS=5.308;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.144;SOR=0.424	GT:AD:DP:GQ:PL	0/1:109,75:184:99:1946,0,2806	6	0	1	0
chr5	178931836	178931836	G	A	exonic	ZFP2	.	nonsynonymous SNV	ZFP2:NM_030613:exon5:c.G523A:p.V175I	.	.	.	.	.	.	.	.	.	.	.	3937616	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.00150524193955	.	.	5.786e-05	0	0.0003	0	0	3.006e-05	0	6.076e-05	4.53e-05	7	154602	rs746884918	1.78e-05	1.779e-05	1.771e-05	1.79e-05	0.0003	1.239e-05	1.052e-05	0.0002	0.0002	2.988e-05	0.0003	0	0	0	0	4.501e-06	1.657e-05	5.801e-05	1.314e-05	1.313e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.288	0.15098	T	0.274	0.22084	T	0.989	0.62824	D	0.707	0.54387	P	0.011266	0.29595	N	0.000000	1	0.08975	N	0.29	0.10111	N	3.18	0.07478	T	-0.84	0.22944	N	0.065	0.04307	-1.0057	0.28247	T	0.016	0.06425	T	10	0.090021044	0.15645	T	0.001505	0.02318	T	0.097	0.27909	0.21	0.12781	0.0716867268079	0.06686	0.03919871252946278	0.03865	0.030913611197	0.03200	0.474007517099	0.35232	T	0.021125	0.16509	T	-0.616527	0.00115	T	-0.801409	0.01867	T	0.0976391658186913	0.12096	T	0.169883	0.01597	T	0.029484177	0.02450	0.027376285	0.00886	0.029484177	0.02450	0.027376285	0.00885	-6.037	0.46588	T	.	.	0.111	0.23290	B	.;.;.	.;.;.	1.823835	0.23175	15.91	0.92163635641590935	0.21526	0.00067	0.00479	N	AEFDBHCI	0.061341	0.11720	N	-0.409619441301373	0.25131	1.361978	-0.467796063313564	0.23046	1.254823	0.00266809506112608	0.09616	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.7	1.83	0.24279	-0.744000	0.04945	0.895000	0.22503	-0.283000	0.06393	0.000000	0.06391	0.000000	0.08366	0.215000	0.22324	0.1908:0.1654:0.4729:0.1709	1.496	0.02319	872	0.31118	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1398.53	38	chr5	178931836	.	G	A	1398.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.185;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-0.849;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,50:74:99:0|1:178931836_G_A:1409,0,826:178931836	6	0	1	0
chr5	179724669	179724669	G	A	exonic	CANX	.	nonsynonymous SNV	CANX:NM_001364001:exon11:c.G1207A:p.G403S,CANX:NM_001364000:exon12:c.G1207A:p.G403S,CANX:NM_001024649:exon13:c.G1531A:p.G511S,CANX:NM_001363994:exon13:c.G1636A:p.G546S,CANX:NM_001363996:exon13:c.G1531A:p.G511S,CANX:NM_001363997:exon13:c.G1531A:p.G511S,CANX:NM_001363998:exon13:c.G1531A:p.G511S,CANX:NM_001363999:exon13:c.G1525A:p.G509S,CANX:NM_001746:exon13:c.G1531A:p.G511S,CANX:NM_001363993:exon14:c.G1693A:p.G565S,CANX:NM_001363995:exon14:c.G1633A:p.G545S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00610107715806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	0	4.126e-06	1.16e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.03903	T	0.733	0.05109	T	0.002	0.09854	B	0.01	0.14941	B	0.000003	0.62929	D	0.103647	0.999953	0.19363	N	-0.14	0.04484	N	0.85	0.47130	T	0.85	0.01736	N	0.172	0.18376	-1.0337	0.19268	T	0.059	0.24649	T	10	0.07754511	0.12250	T	0.006101	0.15964	T	0.063	0.18251	0.127	0.03251	0.21174354426	0.20776	0.33978558168835804	0.33891	0.301218559738	0.32469	0.3299716115	0.14930	T	0.244421	0.61354	T	-0.270967	0.11649	T	-0.627002	0.10643	T	0.383413046598434	0.28314	T	.	.	.	0.021023205	0.00684	0.054093476	0.09240	0.021023205	0.00684	0.054093476	0.09240	-2.398	0.05120	T	.	.	0.080	0.07745	B	.;.;.	.;.;.	2.509249	0.32405	19.03	0.6021555259219723	0.06410	0.96744	0.70707	D	AEFBI	0.852499	0.76941	D	-0.598350888523037	0.18995	0.9906816	-0.371974325768095	0.25835	1.423288	0.999881092562388	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.83	4.04	0.46262	4.548000	0.60429	3.345000	0.37739	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.1802:0.7009:0.1189	11.045	0.47070	819	0.41190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	367.83	34	chr5	179724669	.	G	A	367.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.877;DP=207;ExcessHet=0;FS=2.528;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.94;ReadPosRankSum=0.143;SOR=0.993	GT:AD:DP:GQ:PL	0/1:36,17:53:99:378,0,911	6	0	1	0
chr5	180899326	180899326	A	G	exonic	BTNL8	.	nonsynonymous SNV	BTNL8:NM_001040462:exon1:c.A16G:p.S6G,BTNL8:NM_001159707:exon1:c.A16G:p.S6G,BTNL8:NM_001159708:exon1:c.A16G:p.S6G,BTNL8:NM_024850:exon1:c.A16G:p.S6G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00788339896638	0.0033	0.00259585	0.0011	0.0092	8.637e-05	0	0	1.498e-05	0	0.0018	0.0009638	149	154602	rs138728915	0.0004	0.0004	0.0003	0.0004	0.0082	0.0004	0.0003	0.0074	0.0071	0.0082	0.0002	0	7.557e-05	0	0.0002	8.993e-07	0.0007	0.0026	0.0026	0.0026	0.0027	0.0024	0.0088	0.0023	0.0023	0.0080	0.0077	0.0088	0	0.0005	0	0.0004	0	0	0	0.0019	0.0023	0.205	0.53172	T	0.027	0.59732	D	0.032	0.20242	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	4.83	0.53516	T	-1.71	0.40660	N	0.217	0.24260	-1.0454	0.15709	T	0.041	0.17657	T	9	0.0050141215	0.00108	T	0.007883	0.20903	T	0.034	0.08419	.	.	0.406257615169	0.40241	0.10017548980057972	0.09948	0.127101656324	0.14323	0.305932223797	0.11292	T	0.010716	0.09649	T	-0.54903	0.00296	T	-0.554171	0.16926	T	0.00175976799577112	0.00018	T	0.254275	0.03911	T	0.088545464	0.20660	0.07663642	0.16992	0.088545464	0.20660	0.07663642	0.16992	-3.837	0.28107	T	.	.	0.080	0.19194	B	.;.;.;.	.;.;.;.	1.050422	0.14316	10.89	0.44373196069599619	0.03407	0.00698	0.02970	N	AEFBI	0.062001	0.11892	N	-1.29658374824001	0.03717	0.1665174	-1.34252504050891	0.03895	0.1826121	3.60152441936867E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.7	-0.255	0.12346	0.266000	0.18300	0.308000	0.17052	-0.235000	0.07621	0.000000	0.06391	0.000000	0.08366	0.350000	0.25659	0.5446:0.2824:0.173:0.0	2.607	0.04585	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	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1223.63	36	chr5	180899326	.	A	G	1223.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.535;DP=309;ExcessHet=0;FS=2.225;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=0.715;SOR=0.827	GT:AD:DP:GQ:PL	0/1:72,59:131:99:1234,0,1789	6	0	1	0
chr5	180992855	180992855	T	C	exonic	BTNL3	.	nonsynonymous SNV	BTNL3:NM_197975:exon2:c.T92C:p.L31S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.243631025505	.	0.00139776	0.0012	0	0	0	0	3.338e-05	0.0012	0.0078	0.0009056	140	154602	rs559737636	0.0006	0.0006	0.0004	0.0008	0.0078	0.0005	0.0005	0.0073	0.0071	0	0	0	0	0	0.0004	5.704e-05	0.0008	0.0078	0.0002	0.0002	0.0001	0.0003	0.0065	0.0002	0.0001	0.0047	0.0041	0	0	0	0	0	0	0	0	0.0005	0.0065	0.125	0.27310	T	0.203	0.27325	T	0.002	0.09854	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.835	0.48228	L	-0.05	0.63403	T	-2.7	0.57599	D	0.1	0.08227	-0.9796	0.35094	T	0.129	0.43726	T	9	0.016969144	0.00360	T	0.243631	0.88810	D	0.122	0.33800	0.603	0.73466	0.110078149338	0.10416	0.14145442725400093	0.14068	0.60281473935	0.55280	0.297746598721	0.10065	T	0.045471	0.27132	T	-0.341509	0.05284	T	-0.61088	0.11913	T	0.0250129692635128	0.01274	T	0.20048	0.02268	T	0.070476055	0.15526	0.09828181	0.23424	0.070476055	0.15526	0.09828181	0.23424	-5.921	0.45614	T	.	.	0.081	0.08417	B	.	.	-0.637801	0.01471	0.091	0.32007554556600559	0.01833	0.00637	0.02791	N	AEFBI	0.032702	0.03744	N	-1.63913739716653	0.01081	0.04694425	-1.70545877994846	0.01113	0.05004495	1.59600566543224E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.83	-1.57	0.08055	-0.460000	0.06797	-2.857000	0.03290	-3.670000	0.00067	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3761:0.0:0.6239	7.468	0.26500	.	.	Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001056	0.000000	0.000000	0.003125	0.000000	0.000000	0.000000	0.003937	0.07143	668.53	35	chr5	180992855	.	T	C	668.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.432;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=0.389;SOR=0.639	GT:AD:DP:GQ:PL	0/1:51,33:84:99:679,0,1446	6	0	1	0
chr5	181004434	181004434	G	A	exonic	BTNL3	.	nonsynonymous SNV	BTNL3:NM_197975:exon6:c.G826A:p.G276R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	.	0.000599042	0.0022	0.0007	0	0	0.0026	0.0010	0	0.0118	0.0001153	3	26028	rs556886756	0.0004	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0042	7.318e-05	0	0	2.668e-05	0.0001	0	4.856e-05	0.0004	0.0048	0.0001	0.0001	7.858e-05	0.0002	0.0038	8.364e-05	6.887e-05	0.0024	0.0020	2.454e-05	0	0	0	0	0	0	1.493e-05	0	0.0038	0.844	0.02782	T	0.63	0.07196	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.63	0.15941	N	1.06	0.39781	T	-0.82	0.22508	N	0.073	0.04668	-1.0091	0.27198	T	0.055	0.23224	T	9	0.007852703	0.00178	T	.	.	.	0.041	0.10877	0.693	0.83032	0.151104730317	0.14643	0.15210979271205458	0.15132	0.47314906908	0.46548	0.44649964571	0.31466	T	0.004532	0.03938	T	-0.698292	0.00037	T	-0.775146	0.02603	T	0.00268369203624716	0.00028	T	0.428457	0.11587	T	0.044926405	0.07265	0.05033193	0.07879	0.044926405	0.07265	0.05033193	0.07878	-4.326	0.28540	T	.	.	0.113	0.22208	B	.	.	-0.485859	0.01912	0.160	0.83330789104176639	0.14667	0.00187	0.01088	N	AEFGBI	0.034935	0.04414	N	-1.63733559935317	0.01089	0.04728707	-1.75220313174302	0.00925	0.04138685	0.00112653663116647	0.08250	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.34	-4.68	0.03070	-2.114000	0.01417	-3.802000	0.02527	-0.582000	0.04700	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2576:0.0:0.5373:0.205	4.259	0.10181	.	.	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	0.000655	0.000000	0.001397	0.005208	0.000000	0.000000	0.000000	0.000000	0.08333	65.32	6	chr5	181004434	.	G	A	65.32	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.792;DP=47;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=34.83;MQRankSum=0.366;QD=7.26;ReadPosRankSum=0.48;SOR=0.283	GT:AD:DP:GQ:PL	0/1:6,3:9:75:75,0,170	5	0	1	1
chr6	2768811	2768811	G	A	exonic	WRNIP1	.	nonsynonymous SNV	WRNIP1:NM_020135:exon2:c.G943A:p.E315K,WRNIP1:NM_130395:exon2:c.G943A:p.E315K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.018334791241	.	.	1.652e-05	9.664e-05	0	0	0	0	0	6.069e-05	1.29e-05	2	154602	rs778889535	1.574e-05	1.642e-05	8.169e-06	2.338e-05	0.0002	1.048e-05	8.75e-06	0.0002	0.0001	2.987e-05	0	0	0	0	0.0002	0	0	0.0002	1.97e-05	1.968e-05	2.569e-05	1.343e-05	0.0004	5.24e-06	2.45e-06	7.293e-05	3.03e-05	2.405e-05	0	0	0	0	0	0	0	0	0.0004	0.06	0.38407	T	0.068	0.45961	T	0.417	0.62824	B	0.472	0.63100	P	0.000000	0.84330	D	0.044577	1	0.81001	D	0.97	0.24054	L	0.92	0.44461	T	-2.94	0.61435	D	0.789	0.80767	-1.1028	0.03768	T	0.070	0.28478	T	10	0.30592105	0.48106	T	0.018335	0.40371	T	0.267	0.58126	0.415	0.45380	0.128874641272	0.12493	0.8162563233491773	0.81581	0.516598376616	0.49541	0.729856848717	0.71484	T	0.669828	0.90188	D	-0.150192	0.28282	T	-0.193838	0.55228	T	0.656405746936798	0.38739	D	0.839616	0.85835	T	0.6533144	0.75541	0.54322004	0.73598	0.6533144	0.75542	0.54322004	0.73598	-16.332	0.98216	D	.	.	0.975	0.91282	P	.;.;.;.	.;.;.;.	5.687545	0.93038	33	0.99918612559408337	0.98586	0.97549	0.75477	D	AEFBI	0.939069	0.93915	D	0.303507170335202	0.56330	3.797375	0.423386500602496	0.63025	4.528369	0.999999999866271	0.74766	0.706298	0.61202	0	0.581341	0.33841	0	0.709663	0.75317	0	0.657601	0.63696	0	.	.	5.54	4.66	0.57857	7.926000	0.87003	11.807000	0.96822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0746:0.0:0.9254:0.0	13.884	0.63201	842	0.36989	ATPase, AAA-type, core|AAA+ ATPase domain;.;ATPase, AAA-type, core|AAA+ ATPase 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	395.53	34	chr6	2768811	.	G	A	395.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.069;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.35;ReadPosRankSum=-1.68;SOR=0.79	GT:AD:DP:GQ:PL	0/1:52,22:74:99:406,0,1280	6	0	1	0
chr6	7910699	7910701	CAG	-	exonic	TXNDC5	.	nonframeshift deletion	TXNDC5:NM_030810:exon1:c.76_78del:p.L26del	.	407	1088	27	0	0	27	0.012256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0212	0.0172	0	.	.	0	0	0.0417	6.5e-06	1	154602	rs775841007	0.0006	0.0059	0.0005	0.0008	0.0063	0.0006	0.0006	0.0044	0.0038	0.0007	0.0063	0.0012	0.0022	0.0033	0.0014	0.0005	0.0008	0.0023	2.708e-05	0.0002	2.641e-05	2.778e-05	6.034e-05	8.33e-06	5.27e-06	2.008e-05	1.148e-05	0	0	0	0	0	0	0	6.034e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056485	0.059322	0.000000	0.051724	0.100000	0.000000	0.057692	0.057692	0.08333	83.23	13	chr6	7910698	.	CCAG	C	83.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.207;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.87;ReadPosRankSum=0.698;SOR=0.283	GT:AD:DP:GQ:PL	0/1:25,4:29:93:93,0,1032	5	0	1	1
chr6	12121542	12121542	C	T	exonic	HIVEP1	.	nonsynonymous SNV	HIVEP1:NM_002114:exon4:c.C1747T:p.P583S	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00557750760506	.	.	4.978e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs759780017	2.257e-05	2.257e-05	1.361e-05	3.163e-05	0.0003	1.61e-05	1.416e-05	0.0002	0.0002	0	0	0	0	0	0	0	4.967e-05	0.0003	1.97e-05	1.969e-05	0	4.031e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	0	0	0.0006	0.849	0.02746	T	1.0	0.01155	T	.	.	.	.	.	.	0.887047	0.07271	N	1.077220	1	0.08975	N	.	.	.	3.17	0.07599	T	-1.11	0.28703	N	0.023	0.00407	-0.8995	0.48044	T	0.002	0.00769	T	9	0.017237097	0.00367	T	0.005578	0.14409	T	0.015	0.02232	0.215	0.13498	0.128874641272	0.12493	0.13453968788721568	0.13377	0.0865646360394	0.09771	0.215969160199	0.01090	T	.	.	.	-0.639011	0.00084	T	-0.855348	0.00895	T	0.0137178093017026	0.00256	T	0.656534	0.26618	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01622	B	.;.	.;.	-0.654666	0.01430	0.085	0.28638855233853289	0.01480	0.11015	0.16349	N	AEFGBCI	0.035619	0.04615	N	-1.63663533069527	0.01092	0.04742133	-1.69806955789732	0.01146	0.05153993	0.999999128286	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	5.78	-9.37	0.00530	-0.166000	0.09943	-0.668000	0.07948	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.412000	0.27050	0.0:0.308:0.3157:0.3763	8.876	0.34501	495	0.76383	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2273.45	79	chr6	12121542	.	C	T	2273.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.74;DP=539;ExcessHet=0;FS=3.257;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.765;SOR=0.921	GT:AD:DP:GQ:PL	0/1:105,90:195:99:2284,0,2544	6	0	1	0
chr6	21594616	21594616	C	G	exonic	SOX4	.	nonsynonymous SNV	SOX4:NM_003107:exon1:c.C82G:p.L28V	.	401	1088	32	1	0	34	0.0153846	.	.	.	721903	SOX4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.393	.	0.0064	0.00658946	0.0099	0.0017	0.0069	0.0004	0.0236	0.0138	0.0104	0.0029	0.0069857	1080	154602	rs140231408	0.0088	0.0088	0.0087	0.0090	0.0231	0.0087	0.0087	0.0198	0.0185	0.0013	0.0061	0.0046	2.535e-05	0.0170	0.0231	0.0096	0.0085	0.0029	0.0084	0.0084	0.0083	0.0085	0.0123	0.0080	0.0078	0.0116	0.0113	0.0015	0.0461	0.0105	0.0037	0.0002	0.0112	0.0068	0.0123	0.0114	0.0035	0.02	0.49613	D	0.041	0.50514	D	0.999	0.77913	D	0.991	0.79672	D	0.008648	0.30737	U	0.228531	0.998091	0.44502	D	2.085	0.57729	M	-4.61	0.97866	D	-1.94	0.45042	N	0.28	0.31702	1.021	0.97545	D	0.930	0.97703	D	10	0.0058346987	0.00130	T	.	.	.	0.393	0.70844	.	.	0.976265630234	0.97601	0.8798186674249182	0.87949	1.76582254262	0.91186	0.850305140018	0.89661	D	0.508715	0.82587	D	-0.20665	0.19853	T	-0.0559893	0.66610	D	0.0263906622172914	0.01459	T	0.767723	0.39623	T	0.40660983	0.61188	0.48305514	0.70070	0.40660983	0.61188	0.48305514	0.70070	-5.077	0.37664	T	.	.	0.239	0.47294	B	.	.	4.612667	0.73162	25.9	0.98579792533148403	0.43219	0.13430	0.17851	N	ALL	0.198450	0.32531	N	0.508664371648211	0.67602	5.103375	0.493918065059826	0.67587	5.103923	0.999999999735307	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.12	5.12	0.69459	0.264000	0.18264	5.555000	0.48903	0.580000	0.29708	0.987000	0.36337	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.331	0.87150	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014184	0.010309	0.014946	0.011696	0.050000	0.008621	0.015432	0.011364	0.07143	1285.46	35	chr6	21594616	.	C	G	1285.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.009;DP=262;ExcessHet=0;FS=1.8;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.086;SOR=0.485	GT:AD:DP:GQ:PL	0/1:39,51:90:99:1296,0,920	6	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	474.08	36	chr6	24145554	.	C	T	474.08	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.235;DP=362;ExcessHet=1.383;FS=215.002;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.89;ReadPosRankSum=1.26;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,18:76:83:.:.:83,0,1172:.	3	0	3	1
chr6	25923906	25923906	C	T	exonic	SLC17A2	.	nonsynonymous SNV	SLC17A2:NM_001286125:exon2:c.G29A:p.G10D,SLC17A2:NM_001286123:exon3:c.G29A:p.G10D,SLC17A2:NM_005835:exon3:c.G29A:p.G10D	.	430	1036	49	7	0	63	0.0295082	0.7839	0.638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	0.0060	0.00698882	0.0101	0.0021	0.0070	0.0007	0.0035	0.0088	0.0156	0.0296	0.0091461	1414	154602	rs111909699	0.0075	0.0076	0.0064	0.0086	0.0313	0.0074	0.0074	0.0304	0.0300	0.0036	0.0073	0.0409	0.0007	0.0017	0.0286	0.0053	0.0098	0.0313	0.0062	0.0062	0.0059	0.0066	0.0263	0.0059	0.0058	0.0226	0.0212	0.0020	0.0088	0.0084	0.0357	0.0029	0.0022	0.0340	0.0060	0.0085	0.0263	0.075	0.34444	T	0.076	0.43344	T	0.007	0.14184	B	0.011	0.17743	B	0.019937	0.27150	N	0.266084	0.609647	0.30871	N	1.625	0.41611	L	-0.36	0.68754	T	-3.25	0.65283	D	0.216	0.24135	-1.0356	0.18668	T	0.091	0.34874	T	10	0.0032121837	0.00055	T	0.007218	0.19143	T	0.081	0.23632	.	.	.	.	0.3683833381169317	0.36752	0.288833652851	0.31292	0.336609959602	0.15930	T	0.249732	0.61973	T	-0.404966	0.02148	T	-0.33217	0.41227	T	0.0156558679385458	0.00359	T	0.360464	0.12562	T	0.14079377	0.32469	0.17332493	0.39651	0.14079377	0.32469	0.17332493	0.39650	-6.448	0.49884	T	.	.	0.115	0.23077	B	.;.;.	.;.;.	2.167978	0.27628	17.53	0.9886795882934537	0.47597	0.08222	0.14179	N	AEFGBI	0.131061	0.24985	N	-0.52049312443909	0.21418	1.136514	-0.445891988888644	0.23666	1.291768	0.0923378630642152	0.16156	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.11	3.2	0.35826	-0.213000	0.09309	0.808000	0.21724	0.599000	0.40250	0.011000	0.18532	0.956000	0.29165	0.932000	0.46971	0.1819:0.6427:0.1754:0.0	8.040	0.29677	496	0.76301	.;.;.	.	.	.	.	.	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	0.026423	0.010309	0.028533	0.038690	0.050000	0.000000	0.024845	0.022727	0.08333	316.27	17	chr6	25923906	.	C	T	316.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.946;DP=141;ExcessHet=0;FS=2.069;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.628;SOR=1.432	GT:AD:DP:GQ:PL	0/1:17,10:27:99:326,0,479	5	0	1	1
chr6	26092897	26092897	G	A	exonic	HFE	.	nonsynonymous SNV	HFE:NM_139010:exon2:c.G289A:p.E97K,HFE:NM_139003:exon3:c.G511A:p.E171K,HFE:NM_139004:exon3:c.G553A:p.E185K,HFE:NM_139007:exon3:c.G565A:p.E189K,HFE:NM_139008:exon3:c.G523A:p.E175K,HFE:NM_000410:exon4:c.G829A:p.E277K,HFE:NM_001300749:exon4:c.G829A:p.E277K,HFE:NM_001384164:exon4:c.G829A:p.E277K,HFE:NM_139006:exon4:c.G787A:p.E263K,HFE:NM_139009:exon4:c.G760A:p.E254K	Hemochromatosis, Autosomal recessive	0	1503	18	1	0	20	0.00660939	.	.	.	302313	not_provided|Hereditary_hemochromatosis	MedGen:C3661900|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.163	.	0.0007	0.00179712	0.0039	0.0007	0.0010	0	0	0.0006	0.0077	0.0246	0.0032859	508	154602	rs140080192	0.0022	0.0022	0.0013	0.0031	0.0266	0.0021	0.0021	0.0257	0.0253	0.0017	0.0006	0.0006	0	3.744e-05	0.0154	0.0005	0.0014	0.0266	0.0015	0.0015	0.0011	0.0018	0.0213	0.0013	0.0012	0.0180	0.0167	0.0014	0	0.0011	0.0006	0	0	0.0136	0.0005	0.0009	0.0213	0.025	0.91255	D	0.009	0.72224	D	0.994	0.90584	D	0.914	0.92359	D	0.003202	0.35270	N	0.197771	0.966573	0.81001	D	2.19	0.61577	M	2.52	0.14160	T	-2.72	0.72710	D	0.282	0.35727	-1.1483	0.01077	T	0.075	0.30272	T	10	0.0042536557	0.00085	T	.	.	.	0.163	0.42028	.	.	0.51880533489	0.51525	0.5444991423812867	0.54375	0.9077017835	0.70913	0.366547465324	0.20336	T	0.209275	0.56944	T	-0.434404	0.01395	T	-0.377171	0.36053	T	0.0296305559937139	0.01933	T	0.970503	0.98004	D	0.8426054	0.86795	0.7183908	0.83375	0.8376382	0.86441	0.7473148	0.85065	-6.822	0.58192	T	0.5373320340288041	0.60741	0.372	0.64527	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.416532	0.68366	25.2	0.99905771351955019	0.97651	0.41903	0.26760	N	AEFDBI	0.167319	0.29398	N	0.497705345638774	0.66954	5.017763	0.39905775470879	0.61507	4.351744	0.999996635199591	0.74766	0.623552	0.39893	0	0.624146	0.53433	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	5.35	5.35	0.76297	0.963000	0.28890	7.418000	0.58694	0.676000	0.76740	0.007000	0.17678	1.000000	0.68203	0.885000	0.42453	0.0:0.0:1.0:0.0	14.751	0.69141	495	0.76383	.;.;.;.;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;.;.;.;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.010870	0.049708	0.050000	0.000000	0.006098	0.015152	0.07143	1056.46	34	chr6	26092897	.	G	A	1056.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.04;DP=270;ExcessHet=0;FS=0.831;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.605;SOR=0.587	GT:AD:DP:GQ:PL	0/1:51,37:88:99:1067,0,1390	6	0	1	0
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	211.99	40	chr6	27310582	.	G	A	211.99	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.57;DP=369;ExcessHet=1.383;FS=204.346;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=0.534;SOR=8.222	GT:AD:DP:GQ:PL	0/1:53,21:74:55:55,0,1001	2	0	3	2
chr6	27400705	27400705	A	G	exonic	ZNF391	.	nonsynonymous SNV	ZNF391:NM_001076781:exon3:c.A335G:p.N112S,ZNF391:NM_001322293:exon3:c.A335G:p.N112S,ZNF391:NM_001322288:exon4:c.A335G:p.N112S,ZNF391:NM_001322289:exon4:c.A335G:p.N112S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0010632933788	.	.	2.499e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs778800610	1.026e-05	1.026e-05	4.085e-06	1.65e-05	0.0002	6.16e-06	4.89e-06	0.0001	8.648e-05	0	0	0	0	0	0	0	0	0.0002	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.131	0.26629	T	0.082	0.41573	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	5.48	0.50192	T	-3.02	0.62630	D	0.073	0.04668	-1.0234	0.22606	T	0.027	0.11485	T	9	0.04466182	0.03448	T	0.001063	0.01215	T	0.036	0.09122	0.197	0.10975	0.259272394797	0.25527	0.014631049336576283	0.01420	0.104694410555	0.11848	0.289837509394	0.08899	T	0.191417	0.54625	T	-0.513634	0.00479	T	-0.696141	0.06039	T	0.026584392841544	0.01486	T	0.156884	0.01550	T	0.05063873	0.09178	0.077628724	0.17312	0.05063873	0.09177	0.077628724	0.17311	-4.074	0.24905	T	.	.	0.075	0.10691	B	.;.	.;.	0.420640	0.07912	4.618	0.43925058313518267	0.03341	0.01753	0.05519	N	AEFGBCI	0.051864	0.09204	N	-0.981832879339826	0.08992	0.4237645	-1.00162482923481	0.09750	0.4868805	8.82141837920358E-5	0.04703	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	4.29	1.86	0.24489	-1.844000	0.01772	-1.234000	0.05952	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.722000	0.34836	0.5057:0.1975:0.1065:0.1903	1.085	0.01548	568	0.70638	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1805.44	33	chr6	27400705	.	A	G	1805.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.016;DP=320;ExcessHet=0;FS=2.137;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.565;SOR=0.937	GT:AD:DP:GQ:PL	0/1:69,71:140:99:1816,0,1739	6	0	1	0
chr6	27957616	27957616	A	G	exonic	OR2B6	.	nonsynonymous SNV	OR2B6:NM_012367:exon1:c.A376G:p.I126V	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	0.0005	0.00479233	0.0059	0.0010	0.0007	0.0003	0	0.0002	0.0033	0.0409	0.0048576	751	154602	rs143223456	0.0028	0.0028	0.0014	0.0042	0.0425	0.0027	0.0027	0.0413	0.0409	0.0013	0.0001	0.0007	0.0005	0	0.0102	0.0002	0.0015	0.0425	0.0014	0.0014	0.0009	0.0020	0.0344	0.0013	0.0012	0.0302	0.0285	0.0007	0	6.55e-05	0.0006	0.0019	0	0	8.825e-05	0.0005	0.0344	0.903	0.02407	T	1.0	0.01155	T	0.008	0.14655	B	0.05	0.25278	B	0.004577	0.33608	U	0.000000	0.638709	0.32856	D	0.57	0.15267	N	0.73	0.50721	T	-0.08	0.08187	N	0.508	0.53972	-1.0650	0.10549	T	0.042	0.17869	T	10	0.006839961	0.00155	T	.	.	.	0.105	0.29889	.	.	0.54456359225	0.54111	0.14947189597647004	0.14869	0.0639061766001	0.07121	0.325245440006	0.14215	T	0.005922	0.05364	T	-0.457479	0.01019	T	-0.431387	0.29779	T	0.0305732340930483	0.02079	T	0.622038	0.23930	T	0.06276232	0.13143	0.062467888	0.12226	0.06276232	0.13143	0.062467888	0.12225	-4.159	0.26155	T	.	.	0.097	0.15877	B	.	.	1.988445	0.25265	16.70	0.39403202385802433	0.02717	0.97488	0.75073	D	AEFGBI	0.466915	0.51436	N	-0.377714764813272	0.26264	1.432113	-0.258030348275566	0.29496	1.652963	0.998758606467048	0.37602	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.68	3.68	0.41359	6.849000	0.75212	0.068000	0.14222	0.752000	0.88150	1.000000	0.71638	0.000000	0.08366	0.996000	0.76049	1.0:0.0:0.0:0.0	10.916	0.46346	481	0.77356	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	0.014099	0.000000	0.005435	0.035088	0.000000	0.008621	0.009146	0.037879	0.07143	1738.44	37	chr6	27957616	.	A	G	1738.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.518;DP=349;ExcessHet=0;FS=0.578;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.575;SOR=0.758	GT:AD:DP:GQ:PL	0/1:87,75:162:99:1749,0,2351	6	0	1	0
chr6	28260114	28260114	C	A	exonic	NKAPL	.	nonsynonymous SNV	NKAPL:NM_001007531:exon1:c.C743A:p.S248Y	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	7.7e-05	0.00239617	0.0043	0.0002	0.0005	0	0	6.959e-05	0.0037	0.0282	0.0030983	479	154602	rs377279849	0.0016	0.0017	0.0007	0.0026	0.0285	0.0016	0.0015	0.0275	0.0271	0	0	0	0	0	0.0012	9.051e-06	0.0006	0.0285	0.0007	0.0007	0.0003	0.0011	0.0220	0.0006	0.0005	0.0186	0.0174	0	0	0	0	0	0	0	0	0	0.0220	0.514	0.07401	T	0.03	0.54159	D	0.006	0.13644	B	0.005	0.11217	B	0.000082	0.00436	N	38.570000	0.966269	0.38519	D	1.5	0.37844	L	2.49	0.14531	T	-3.34	0.66325	D	0.139	0.13769	-0.9571	0.39717	T	0.012	0.04747	T	10	0.0026673973	0.00041	T	.	.	.	0.076	0.22200	.	.	0.0666544352282	0.05500	0.192862456312426	0.19204	0.555486334533	0.52246	0.312239766121	0.12245	T	0.053539	0.29470	T	-0.666268	0.00058	T	-0.708875	0.05353	T	0.0343689718998629	0.02701	T	0.316468	0.06291	T	0.13378544	0.31105	0.14381708	0.34165	0.13378544	0.31105	0.14381708	0.34164	-6.062	0.46795	T	.	.	0.086	0.10787	B	.	.	1.309856	0.17126	12.98	0.76940388349203215	0.11671	0.81260	0.40701	D	AEFDBI	0.154988	0.28011	N	-0.65836251679759	0.17217	0.8840706	-0.670536542136449	0.17700	0.9422749	0.355655533109289	0.19727	0.549168	0.22868	0	0.547309	0.14657	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.21	-0.281	0.12244	0.507000	0.22383	-0.216000	0.10808	0.599000	0.40250	0.268000	0.25027	0.000000	0.08366	0.642000	0.32476	0.3475:0.2971:0.2637:0.0917	2.436	0.04210	495	0.76383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.000000	0.000000	0.008772	0.000000	0.000000	0.003049	0.022727	0.08333	575.27	39	chr6	28260114	.	C	A	575.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.169;DP=251;ExcessHet=0;FS=2.334;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=-0.867;SOR=1.022	GT:AD:DP:GQ:PL	0/1:39,23:62:99:585,0,1055	5	0	1	1
chr6	29588710	29588710	G	A	exonic	OR2H2	.	nonsynonymous SNV	OR2H2:NM_007160:exon1:c.G766A:p.V256I	.	439	1058	25	0	0	25	0.0116768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0001	0.00599042	0.0067	0.0001	0.0006	0.0005	0	0.0004	0.0034	0.0451	0.0052975	819	154602	rs147023039	0.0030	0.0029	0.0014	0.0046	0.0443	0.0029	0.0029	0.0432	0.0427	3.211e-05	8.969e-05	0.0007	0.0004	0	0.0094	0.0002	0.0012	0.0443	0.0014	0.0014	0.0008	0.0019	0.0365	0.0012	0.0011	0.0321	0.0304	2.406e-05	0	6.533e-05	0.0006	0.0023	0	0	0.0002	0.0005	0.0365	0.21	0.19639	T	0.205	0.27145	T	0.127	0.26966	B	0.122	0.32387	B	0.042437	0.23843	N	0.209202	0.999996	0.58761	D	-0.17	0.04298	N	8.74	0.00084	T	-0.33	0.12472	N	0.178	0.19190	-1.0256	0.21886	T	0.000	0.00039	T	10	0.0038820803	0.00074	T	.	.	.	0.103	0.29403	.	.	0.16115917748	0.15686	0.052412846359074824	0.05183	0.16524632657	0.18640	0.215086326003	0.01045	T	0.002115	0.01518	T	-0.513781	0.00478	T	-0.476479	0.24821	T	0.0367894765877239	0.03119	T	.	.	.	0.06785004	0.14732	0.2535041	0.50999	0.06785004	0.14732	0.2535041	0.50998	-3.542	0.17025	T	.	.	0.089	0.12938	B	.;.	.;.	2.122607	0.27015	17.32	0.97411633701978251	0.33825	0.11678	0.16791	N	AEFBI	0.063953	0.12390	N	-0.379795791006554	0.26189	1.427469	-0.288588738300988	0.28473	1.587876	0.195256041529539	0.18050	0.421363	0.06395	0	0.563428	0.19063	0	0.536957	0.11973	0	0.530356	0.10902	0	.	.	4.1	4.1	0.47196	1.328000	0.33364	.	.	0.618000	0.50648	0.001000	0.13787	0.000000	0.08366	0.995000	0.73285	0.2114:0.0:0.7885:0.0	6.149	0.19517	846	0.36215	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	0.012527	0.000000	0.002717	0.053191	0.000000	0.008621	0.006098	0.034091	0.07143	2096.53	45	chr6	29588710	.	G	A	2096.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.239;DP=351;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=51.34;MQRankSum=0.303;QD=14.98;ReadPosRankSum=0.349;SOR=0.719	GT:AD:DP:GQ:PL	0/1:65,75:140:99:2107,0,1800	6	0	1	0
chr6	31138459	31138459	G	A	exonic	PSORS1C1	.	nonsynonymous SNV	PSORS1C1:NM_014068:exon4:c.G43A:p.G15S	.	434	1012	71	5	0	81	0.0384798	0.8953	0.78	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0038	0.028155	0.0171	0.0062	0.0180	0.0502	0.0005	0.0018	0.0126	0.0719	0.0147152	2275	154602	rs79592231	0.0087	0.0087	0.0063	0.0111	0.0830	0.0086	0.0085	0.0806	0.0797	0.0068	0.0158	0.0020	0.0830	0.0005	0.0389	0.0014	0.0079	0.0711	0.0070	0.0070	0.0059	0.0080	0.0561	0.0066	0.0065	0.0506	0.0484	0.0057	0	0.0105	0.0014	0.0497	0.0006	0.0102	0.0015	0.0109	0.0561	0.596	0.05703	T	0.632	0.07150	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.30297	N	0	0.06538	N	2.93	0.09822	T	-2.0	0.46146	N	0.129	0.12341	-0.9064	0.47285	T	0.003	0.01059	T	9	0.0019145608	0.00026	T	0.005003	0.12629	T	0.014	0.01968	.	.	.	.	0.011174808878009649	0.01077	0.395066701546	0.40657	0.272165417671	0.06425	T	0.003193	0.02596	T	-0.758823	0.00015	T	-0.785295	0.02297	T	0.000963482096187824	0.00009	T	.	.	.	0.028497277	0.02197	0.06630027	0.13561	0.028497277	0.02196	0.06630027	0.13561	-3.309	0.13853	T	.	.	0.124	0.26042	B	.	.	1.916377	0.24341	16.36	0.6355789699833716	0.07255	0.00820	0.03314	N	AEFBI	0.054998	0.10047	N	-1.8206001834593	0.00497	0.0213779	-1.85822435189454	0.00590	0.02621353	0.964727559517347	0.28780	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.34	-2.07	0.06873	-1.162000	0.03252	.	.	-1.866000	0.00557	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4029:0.2015:0.3955	3.524	0.07308	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028403	0.010101	0.010870	0.086957	0.000000	0.035088	0.037037	0.041667	0.1429	3829.32	36	chr6	31138459	.	G	A	3829.32	.	AC=2;AF=0.143;AN=14;DP=398;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.15;SOR=0.993	GT:AD:DP:GQ:PL	1/1:0,127:127:99:3850,381,0	6	1	0	0
chr6	31271082	31271082	G	C	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C610G:p.Q204E,HLA-C:NM_002117:exon3:c.C610G:p.Q204E	.	0	1440	82	0	0	82	0.027684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00176875394672	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011449	177	154602	rs796429498	0.0002	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0003	0.0006	0.0003	0.0005	0	0	0.0007	0.0001	0.0002	0.0001	1.508e-05	0.0004	0	3.15e-05	7.378e-05	0	0	.	.	7.378e-05	0	0	0	0	0	0	0	0	0	0.012	0.63226	D	0.137	0.33894	T	0.0	0.02946	B	0.002	0.06944	B	0.065850	0.02193	U	2.663580	0.995838	0.23771	N	.	.	.	9.55	0.00007	T	-1.96	0.46503	N	0.037	0.01498	-0.9192	0.45662	T	0.000	0.00039	T	10	0.03142172	0.01277	T	0.001769	0.03012	T	0.198	0.48105	.	.	0.264547087235	0.26054	0.06743973031026444	0.06681	0.534207440331	0.50835	0.27684956789	0.07057	T	0.037706	0.24575	T	-0.155279	0.27488	T	-0.460824	0.26509	T	0.0457982197301059	0.04748	T	0.158184	0.01407	T	.	.	.	.	.	.	.	.	-11.787	0.83797	D	.	.	0.098	0.16275	B	.;.;.	.;.;.	1.963241	0.24940	16.58	0.64928230975864176	0.07629	0.20245	0.20969	N	AEFBHCI	0.099613	0.20048	N	-0.567676259610921	0.19933	1.047056	-0.569709590382082	0.20285	1.092179	0.999994312471089	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	1.64	0.22949	0.047000	0.13941	.	.	0.594000	0.32500	0.047000	0.21291	0.000000	0.08366	0.076000	0.17014	0.0:0.2329:0.529:0.2381	5.117	0.14173	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	0.003788	0.010101	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.1429	1633.25	102	chr6	31271082	.	G	C	1633.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.01;DP=739;ExcessHet=0.3476;FS=16.55;MLEAC=2;MLEAF=0.143;MQ=55.97;MQRankSum=-5.167;QD=5.77;ReadPosRankSum=-3.421;SOR=1.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,44:181:99:0|1:31271074_T_C:1334,0,5569:31271074	5	0	2	0
chr6	31271089	31271089	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G603C:p.E201D,HLA-C:NM_002117:exon3:c.G603C:p.E201D	.	0	1433	89	0	0	89	0.0301184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00327990498179	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011319	175	154602	rs17413678	0.0001	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	0.0007	0.0002	0.0005	0	3.395e-05	0.0003	0.0001	7.186e-05	0.0001	1.497e-05	0.0004	0	3.125e-05	7.252e-05	0	0	.	.	7.252e-05	0	0	0	0	0	0	0	0	0	0.014	0.59928	D	0.214	0.26549	T	0.0	0.02946	B	0.001	0.06944	B	0.463348	0.04883	N	1.613380	0.999565	0.21423	N	.	.	.	5.65	0.00784	T	-1.57	0.38924	N	0.068	0.04072	-0.9059	0.47343	T	0.000	0.00114	T	10	0.017638266	0.00378	T	0.00328	0.07268	T	0.222	0.51872	0.525	0.62967	0.18995819373	0.18626	0.10834935616144864	0.10763	0.446550992324	0.44524	0.299512207508	0.10328	T	0.039277	0.25133	T	-0.20222	0.20483	T	-0.528252	0.19461	T	0.0309767665415865	0.02142	T	0.309269	0.05988	T	.	.	.	.	.	.	.	.	-5.958	0.45926	T	.	.	0.112	0.25166	B	.;.;.	.;.;.	1.120113	0.15057	11.55	0.64405259372860457	0.07484	0.02110	0.06246	N	AEFBHCI	0.074243	0.14875	N	-1.34702669488082	0.03156	0.1405097	-1.25390729222346	0.05073	0.2408863	0.999991424455028	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	0.453	0.15851	-2.693000	0.00901	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.3625:0.6374:0.0	10.048	0.41370	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007559	0.010101	0.013587	0.009709	0.000000	0.000000	0.003049	0.003788	0.1429	1770.25	109	chr6	31271089	.	C	G	1770.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.003;DP=767;ExcessHet=0.3476;FS=12.01;MLEAC=2;MLEAF=0.143;MQ=56.04;MQRankSum=-5.152;QD=5.84;ReadPosRankSum=-2.37;SOR=1.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,51:194:99:0|1:31271074_T_C:1492,0,5690:31271074	5	0	2	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6776.2	135	chr6	31271153	.	A	*	6776.2	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.61;DP=1032;ExcessHet=14.2834;FS=0;MLEAC=1;MLEAF=0.071;MQ=51.72;MQRankSum=-1.829;QD=6.68;ReadPosRankSum=-0.2;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,84:274:99:0|1:31271151_TCA_T:2954,0,7696:31271151	6	0	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3231.94	56	chr6	31356247	.	C	*	3231.94	.	AC=3;AF=0.214;AN=14;BaseQRankSum=4.43;DP=503;ExcessHet=1.4958;FS=1.758;MLEAC=3;MLEAF=0.214;MQ=51.65;MQRankSum=-1.937;QD=7.5;ReadPosRankSum=-1.174;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,94:96:99:1|1:31356245_TCC_T:4060,199,0:31356245	5	1	1	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	1273.39	63	chr6	31625601	.	T	C	1273.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-0.123;DP=510;ExcessHet=3.1439;FS=402.682;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=3.58;ReadPosRankSum=1.76;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,35:116:99:0|1:31625601_T_C:716,0,2609:31625601	0	0	4	3
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	1270.39	63	chr6	31625602	.	G	A	1270.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.302;DP=507;ExcessHet=3.1439;FS=403.706;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=3.56;ReadPosRankSum=1.7;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,35:116:99:0|1:31625601_T_C:716,0,2609:31625601	0	0	4	3
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4438.32	8	chr6	32522104	.	G	*	4438.32	.	AC=6;AF=0.429;AN=14;BaseQRankSum=5.79;DP=301;ExcessHet=2.5225;FS=31.069;MLEAC=6;MLEAF=0.429;MQ=43.88;MQRankSum=3.24;QD=15.1;ReadPosRankSum=4.12;SOR=0.575	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,20:20:60:1|1:32522075_A_G:819,60,0:32522075	3	2	2	0
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	13412.6	23	chr6	32522156	.	T	*	13412.6	.	AC=6;AF=0.429;AN=14;DP=399;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.429;MQ=46.61;QD=33.7;SOR=1.193	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,5:40:99:0|1:32522156_T_*:1680,1470,1455:32522156	1	0	6	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4902.46	23	chr6	32522157	.	C	*	4902.46	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.194;DP=394;ExcessHet=0;FS=5.589;MLEAC=5;MLEAF=0.417;MQ=47.07;MQRankSum=-5.386;QD=21.6;ReadPosRankSum=1.74;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,5:40:99:0|1:32522156_T_*:1680,1470,1455:32522156	1	0	5	1
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4902.47	23	chr6	32522159	.	T	*	4902.47	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.23;DP=395;ExcessHet=0;FS=6.757;MLEAC=5;MLEAF=0.417;MQ=47.01;MQRankSum=-5.49;QD=21.6;ReadPosRankSum=1.92;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,5:40:99:0|1:32522156_T_*:1680,1470,1455:32522156	1	0	5	1
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	7710.75	37	chr6	32530184	.	T	*	7710.75	.	AC=10;AF=0.714;AN=14;DP=439;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.714;MQ=54.98;QD=19.04;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,49:49:99:1|1:32530183_CTT_C:2164,147,0:32530183	2	5	0	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	9221.64	37	chr6	32530185	.	T	*	9221.64	.	AC=9;AF=0.643;AN=14;DP=432;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.643;MQ=55.12;QD=23.05;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,49:49:99:1|1:32530183_CTT_C:2164,147,0:32530183	2	4	1	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	13171.6	92	chr6	32584171	.	G	*	13171.6	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.568;DP=825;ExcessHet=3.1439;FS=6.614;MLEAC=3;MLEAF=0.25;MQ=52.25;MQRankSum=6.14;QD=17.47;ReadPosRankSum=1.59;SOR=0.312	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,273:273:99:1|1:32584162_G_T:12224,822,0:32584162	4	1	1	1
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	490.48	93	chr6	32584178	.	G	*	490.48	.	AC=13;AF=0.929;AN=14;DP=815;ExcessHet=0;FS=0;MLEAC=13;MLEAF=0.929;MQ=53.91;QD=0.65;SOR=1.263	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,279:279:99:1|1:32584162_G_T:12555,840,0:32584162	0	6	1	0
chr6	32584228	32584228	C	A	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.G251T:p.R84L	.	1	1508	13	0	0	13	0.00429185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00257257933248	.	.	6.409e-05	0.0007	9.468e-05	0	0	0	0	0	5.82e-05	9	154602	rs41308498	1.626e-05	6.307e-05	1.771e-05	1.48e-05	0.0005	1.064e-05	9.09e-06	0.0003	0.0003	0.0005	0	0	0	0	0	5.864e-06	0	0	4.42e-05	0.0002	5.719e-05	3.039e-05	0.0001	1.886e-05	1.242e-05	5.483e-05	3.581e-05	0.0001	0	0	0	0	0	0	1.601e-05	0	0	0.0	0.91255	D	0.016	0.60972	D	0.998	0.73220	D	0.99	0.78936	D	0.888303	0.08705	N	0.943989	0.645186	0.32912	D	.	.	.	7.87	0.00331	T	-6.06	0.89833	D	0.27	0.30574	-0.8936	0.48614	T	0.002	0.00556	T	10	0.37746155	0.53940	T	0.002573	0.05178	T	0.124	0.34239	.	.	0.674931257369	0.67217	0.41990939871174177	0.41906	1.09707762147	0.77614	.	.	.	0.01704	0.13973	T	-0.0923297	0.37691	T	-0.255447	0.49277	T	0.785655432159905	0.45407	D	0.10459	0.00778	T	0.8030627	0.84102	0.73397994	0.84278	0.8030627	0.84103	0.73397994	0.84280	-10.267	0.75495	D	.	.	0.193	0.41357	B	.	.	2.861935	0.37813	20.6	0.99720484423722866	0.81984	0.09180	0.14987	N	AEFDGBCI	0.565181	0.57167	D	0.0925256326740981	0.46114	2.856915	-0.184822812067982	0.32094	1.822517	0.9997569279649	0.42595	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.52	1.69	0.23290	-0.189000	0.09625	.	.	0.288000	0.18739	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.6271:0.0:0.3729	5.503	0.16129	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	45.44	303	chr6	32584228	.	C	A	45.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.229;DP=1330;ExcessHet=0;FS=58.824;MLEAC=1;MLEAF=0.071;MQ=54.14;MQRankSum=-9.348;QD=0.12;ReadPosRankSum=2.36;SOR=3.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:358,27:385:56:0|1:32584222_T_G:56,0,14920:32584222	6	0	1	0
chr6	32584237	32584237	T	A	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.A242T:p.E81V	.	1	1504	17	0	0	17	0.00561983	.	.	YES	1689253	Pulmonary_artery_atresia	Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	0.185	0.00446510506758	.	.	7.238e-05	0.0008	9.346e-05	0	0	0	0	0	.	.	.	rs780784592	1.981e-05	0.0002	1.905e-05	2.058e-05	0.0007	1.357e-05	1.163e-05	0.0005	0.0004	0.0007	0	0	0	0	0.0002	3.88e-06	0	1.218e-05	7.383e-06	0.0002	1.434e-05	0	2.831e-05	0	0	.	.	2.831e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.033	0.53072	D	0.999	0.77913	D	0.998	0.88582	D	0.000169	0.48594	D	0.129034	0.998407	0.44873	D	.	.	.	7.94	0.00325	T	-5.79	0.88065	D	0.346	0.38746	-1.0223	0.22965	T	0.002	0.00769	T	10	0.3576585	0.52476	T	0.004465	0.10937	T	0.185	0.45933	.	.	0.777994273302	0.77594	0.6138746119219205	0.61319	1.91140118609	0.92913	.	.	.	0.01964	0.15610	T	-0.0662427	0.41926	T	-0.222871	0.52459	T	0.993583977222443	0.84441	D	0.20398	0.02363	T	0.924581	0.93697	0.7778259	0.86896	0.924581	0.93698	0.7778259	0.86897	-8.579	0.64950	D	.	.	0.236	0.46938	B	.	.	4.220153	0.63828	24.6	0.98970140027629683	0.49520	0.16116	0.19238	N	AEFDGBCI	0.458862	0.50971	N	0.342045025897983	0.58319	4.003624	0.0877288503061334	0.43928	2.684672	0.999997522627703	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	3.52	3.52	0.39415	2.349000	0.43710	.	.	0.315000	0.19243	0.027000	0.20232	0.000000	0.08366	0.019000	0.11356	0.0:0.0:0.0:1.0	10.299	0.42825	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	48.44	303	chr6	32584237	.	T	A	48.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.823;DP=1329;ExcessHet=0;FS=64.074;MLEAC=1;MLEAF=0.071;MQ=54.22;MQRankSum=-9.353;QD=0.13;ReadPosRankSum=3.85;SOR=3.15	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,27:384:59:0|1:32584222_T_G:59,0,14878:32584222	6	0	1	0
chr6	32584238	32584238	C	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.G241C:p.E81Q	.	1	1504	17	0	0	17	0.00561983	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00207387365434	.	.	7.225e-05	0.0008	9.327e-05	0	0	0	0	0	.	.	.	rs17883065	2.125e-05	0.0002	2.048e-05	2.202e-05	0.0007	1.491e-05	1.289e-05	0.0005	0.0004	0.0007	2.31e-05	0	0	0	0.0002	2.906e-06	0	1.217e-05	7.337e-06	0.0002	1.425e-05	0	2.802e-05	0	0	.	.	2.802e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.053	0.47336	T	0.999	0.77913	D	0.997	0.86255	D	0.000169	0.48594	D	0.129034	0.990296	0.41128	D	.	.	.	8.0	0.00320	T	-2.41	0.52938	N	0.336	0.37717	-0.9624	0.38723	T	0.002	0.00769	T	10	0.29724097	0.47285	T	0.002074	0.03801	T	0.189	0.46613	.	.	0.595214673487	0.59199	0.43884313891120635	0.43801	1.60149478984	0.88693	.	.	.	0.027425	0.20088	T	-0.0763083	0.40313	T	-0.347388	0.39505	T	0.966860771179199	0.67721	D	0.122788	0.00953	T	0.9087696	0.92180	0.7175066	0.83324	0.9087696	0.92181	0.7175066	0.83325	-7.472	0.57413	T	.	.	0.150	0.33226	B	.	.	3.193117	0.43393	21.7	0.99731010878620463	0.82761	0.07814	0.13809	N	AEFDGBCI	0.410735	0.48149	N	0.303535919932338	0.56330	3.797527	0.058270603401797	0.42473	2.569593	0.999999487461421	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	3.52	3.52	0.39415	0.291000	0.18748	.	.	0.288000	0.18739	0.003000	0.16062	0.000000	0.08366	0.018000	0.11154	0.0:1.0:0.0:0.0	12.912	0.57578	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	48.44	303	chr6	32584238	.	C	G	48.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.692;DP=1330;ExcessHet=0;FS=64.074;MLEAC=1;MLEAF=0.071;MQ=54.24;MQRankSum=-9.353;QD=0.13;ReadPosRankSum=3.95;SOR=3.15	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:357,27:384:59:0|1:32584222_T_G:59,0,14878:32584222	6	0	1	0
chr6	32584286	32584286	-	TT	exonic	HLA-DRB1	.	frameshift insertion	HLA-DRB1:NM_002124:exon2:c.192_193insAA:p.E65Kfs*16	.	1	1516	5	0	0	5	0.00164636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.532e-06	6.922e-06	3.074e-06	0	6.312e-05	2.6e-07	1e-07	1.045e-05	3.91e-06	6.312e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	208.4	402	chr6	32584286	.	C	CTT	208.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.41;DP=2383;ExcessHet=0;FS=97.659;MLEAC=1;MLEAF=0.071;MQ=54.17;MQRankSum=-8.329;QD=0.77;ReadPosRankSum=-2.282;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:248,23:271:99:0|1:32584286_C_CTT:219,0,10297:32584286	6	0	1	0
chr6	32584290	32584291	CT	-	exonic	HLA-DRB1	.	frameshift deletion	HLA-DRB1:NM_002124:exon2:c.188_189del:p.Q63Rfs*23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.539e-06	5.54e-06	3.09e-06	0	6.317e-05	2.6e-07	1e-07	1.046e-05	3.91e-06	6.317e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	178.4	402	chr6	32584289	.	CCT	C	178.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.34;DP=2378;ExcessHet=0;FS=94.207;MLEAC=1;MLEAF=0.071;MQ=54.14;MQRankSum=-8.12;QD=0.67;ReadPosRankSum=-2.873;SOR=6.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,22:266:99:0|1:32584286_C_CTT:189,0,10179:32584286	6	0	1	0
chr6	32584290	32584290	C	0	exonic	HLA-DRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	31671.0	416	chr6	32584290	.	C	*	31671.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.16;DP=2471;ExcessHet=14.2834;FS=1.152;MLEAC=1;MLEAF=0.071;MQ=54.5;MQRankSum=1.23;QD=12.97;ReadPosRankSum=0.786;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,22:266:99:0|1:32584286_C_CTT:189,0,10179:32584286	6	0	1	0
chr6	32584310	32584310	-	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon2:c.168_169insT:p.D57*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.506e-07	2.816e-06	0	1.685e-06	3.312e-05	0	0	.	.	3.312e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6236.38	406	chr6	32584310	.	C	CA	6236.38	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.94;DP=2003;ExcessHet=1.1394;FS=28.142;MLEAC=1;MLEAF=0.071;MQ=54.22;MQRankSum=-4.302;QD=10.38;ReadPosRankSum=-0.25;SOR=1.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,19:217:99:0|1:32584286_C_CTT:202,0,8257:32584286	6	0	1	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	24561.1	243	chr6	32584370	.	G	*	24561.1	.	AC=6;AF=0.429;AN=14;BaseQRankSum=5.49;DP=1443;ExcessHet=0.3476;FS=0;MLEAC=6;MLEAF=0.429;MQ=51.3;MQRankSum=-1.108;QD=17.24;ReadPosRankSum=5.06;SOR=1.523	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,175:301:99:0|1:32584353_C_A:12864,5288,4744:32584353	1	0	6	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2613.32	74	chr6	32641444	.	G	*	2613.32	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.712;DP=808;ExcessHet=2.5225;FS=20.088;MLEAC=7;MLEAF=0.5;MQ=50.87;MQRankSum=-1.068;QD=3.23;ReadPosRankSum=-0.792;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,96:96:99:1|1:32641430_C_T:4320,289,0:32641430	2	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2700.32	74	chr6	32641445	.	A	*	2700.32	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.18;DP=810;ExcessHet=2.5225;FS=19.739;MLEAC=7;MLEAF=0.5;MQ=51.17;MQRankSum=-0.887;QD=3.33;ReadPosRankSum=-0.792;SOR=1.247	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,96:96:99:1|1:32641430_C_T:4320,289,0:32641430	2	2	3	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	907.51	68	chr6	32641462	.	G	*	907.51	.	AC=9;AF=0.643;AN=14;DP=833;ExcessHet=2.5225;FS=10.673;MLEAC=9;MLEAF=0.643;MQ=53.04;QD=1.1;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,88:88:99:1|1:32641430_C_T:3960,265,0:32641430	0	2	5	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	910.51	68	chr6	32641464	.	T	*	910.51	.	AC=9;AF=0.643;AN=14;DP=836;ExcessHet=2.5225;FS=9.491;MLEAC=9;MLEAF=0.643;MQ=53.75;QD=1.11;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,88:88:99:1|1:32641430_C_T:3960,265,0:32641430	0	2	5	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5139.46	58	chr6	32641501	.	G	*	5139.46	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.15;DP=864;ExcessHet=2.5225;FS=1.787;MLEAC=7;MLEAF=0.5;MQ=57.9;MQRankSum=0;QD=5.95;ReadPosRankSum=-0.19;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,69:69:99:1|1:32641476_G_A:3105,208,0:32641476	2	2	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4857.75	64	chr6	32641522	.	A	*	4857.75	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0;DP=915;ExcessHet=2.5225;FS=6.106;MLEAC=7;MLEAF=0.5;MQ=58.2;MQRankSum=0;QD=5.32;ReadPosRankSum=1.36;SOR=1.094	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,61:61:99:1|1:32641476_G_A:2675,184,0:32641476	2	2	3	0
chr6	32664869	32664869	G	T	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C308A:p.T103N,HLA-DQB1:NM_002123:exon2:c.C308A:p.T103N	.	47	1413	29	33	0	95	0.0325231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00320934890791	.	.	0.0036	0.0038	0.0016	0.0012	0.0020	0.0031	0.0049	0.0085	0.0130335	2015	154602	rs9274387	1.448e-05	0.0002	1.473e-05	1.424e-05	0.0003	8.4e-06	6.57e-06	3.1e-06	2.04e-06	0	0	0	0	0.0001	0.0003	8.631e-06	2.352e-05	0	8.846e-06	0.0004	0	1.827e-05	1.872e-05	0	0	.	.	0	0	0	0	0	0	0	1.872e-05	0	0	0.01	0.56456	D	0.224	0.25591	T	0.118	0.26577	B	0.253	0.39112	B	0.634068	0.10659	U	0.776971	1	0.08975	N	.	.	.	8.06	0.00308	T	-0.92	0.24676	N	0.064	0.03613	-0.9485	0.41228	T	0.001	0.00318	T	10	0.009080023	0.00205	T	0.003209	0.07057	T	0.158	0.41098	.	.	.	.	0.2784650380839335	0.27759	0.661283572157	0.58917	0.304967522621	0.11146	T	0.009157	0.08356	T	-0.18148	0.23516	T	-0.49846	0.22508	T	0.028743839315783	0.01798	T	0.240776	0.03459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.39237	B	.;.;.;.	.;.;.;.	-1.656487	0.00214	0.003	0.96346439753286539	0.29499	0.00415	0.02058	N	ALL	0.101341	0.20356	N	-1.25150793438975	0.04280	0.1928499	-1.46237027539343	0.02660	0.1227418	0.9999999444672	0.74766	0.446893	0.09132	0	0.52208	0.09955	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	3.87	-2.53	0.05959	-9.210000	0.00017	.	.	-0.509000	0.05002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1676:0.3191:0.5133	6.882	0.23358	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	397.68	53	chr6	32664869	.	G	T	397.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.28;DP=691;ExcessHet=0;FS=1.379;MLEAC=3;MLEAF=0.214;MQ=51.82;MQRankSum=-3.234;QD=8.28;ReadPosRankSum=0.477;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,8:8:24:1|1:32664851_G_C:360,24,0:32664851	5	1	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	20647.3	120	chr6	32664917	.	C	A	20647.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.131;DP=1018;ExcessHet=4.7409;FS=1.742;MLEAC=5;MLEAF=0.357;MQ=59.02;MQRankSum=0;QD=20.5;ReadPosRankSum=0.072;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,50:50:99:1|1:32664910_A_G:2250,151,0:32664910	3	1	3	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4522.09	121	chr6	32664926	.	G	A	4522.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.97;DP=1022;ExcessHet=0.4813;FS=10.479;MLEAC=5;MLEAF=0.357;MQ=56.49;MQRankSum=-3.201;QD=13.42;ReadPosRankSum=-2.385;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,56:56:99:1|1:32664910_A_G:2462,169,0:32664910	3	1	3	0
chr6	35455814	35455814	C	T	exonic	FANCE	.	nonsynonymous SNV	FANCE:NM_021922:exon2:c.C316T:p.R106W	Fanconi anemia, complementation group E, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	521977	Fanconi_anemia_complementation_group_E|not_provided	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901,Orphanet:84|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.00416291182859	.	.	0.0001	9.63e-05	8.64e-05	0.0002	0.0002	4.501e-05	0.0011	0.0005	0.0001164	18	154602	rs759034838	7.183e-05	7.182e-05	5.717e-05	8.663e-05	0.0005	6.047e-05	5.595e-05	0.0004	0.0003	5.974e-05	0	3.826e-05	0.0003	1.873e-05	0.0003	3.957e-05	1.656e-05	0.0005	9.846e-05	9.842e-05	3.854e-05	0.0002	0.0004	6.001e-05	4.875e-05	7.29e-05	4.288e-05	0.0001	0	6.531e-05	0	0.0004	0	0.0034	4.41e-05	0	0.0004	0.25	0.17126	T	0.117	0.36365	T	0.004	0.12183	B	0.001	0.04355	B	0.527332	0.11676	N	0.783908	1	0.08975	N	0.14	0.08730	N	0.77	0.49642	T	-1.36	0.33798	N	0.137	0.13484	-1.0161	0.24980	T	0.027	0.11397	T	10	0.024418712	0.00671	T	0.004163	0.09995	T	0.024	0.04979	0.377	0.39156	0.490560587058	0.48687	0.2912424786396796	0.29037	0.10995767528	0.12399	0.23824763298	0.02635	T	0.146354	0.48392	T	-0.511035	0.00495	T	-0.643882	0.09388	T	0.00961939858253731	0.00125	T	0.761424	0.38629	T	0.032401048	0.03259	0.040817123	0.04499	0.032401048	0.03258	0.040817123	0.04499	-7.666	0.58771	D	0.17876473033171714	0.22927	0.082	0.08560	B	.	.	-0.268935	0.02757	0.370	0.72192827448609453	0.09888	0.02025	0.06077	N	AEFBI	0.048100	0.08173	N	-1.28912298172442	0.03805	0.1706482	-1.35162010028962	0.03786	0.1773561	0.839435956046666	0.24839	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.37	-2.48	0.06052	-2.040000	0.01504	-1.520000	0.05255	-0.824000	0.02932	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2524:0.2723:0.111:0.3643	0.784	0.00978	596	0.68392	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2337.63	79	chr6	35455814	.	C	T	2337.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.94;DP=582;ExcessHet=0;FS=7.975;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.493;SOR=1.255	GT:AD:DP:GQ:PL	0/1:76,91:167:99:2348,0,1692	6	0	1	0
chr6	36319517	36319517	G	A	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon11:c.C1762T:p.H588Y	.	425	1055	40	2	0	44	0.0204271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0004	0.00499201	0.0048	0.0002	0.0014	0.0001	0	0.0008	0.0033	0.0311	0.0042108	651	154602	rs141156956	0.0024	0.0024	0.0014	0.0034	0.0310	0.0023	0.0023	0.0300	0.0296	8.961e-05	0.0009	0.0017	2.519e-05	3.744e-05	0.0087	0.0005	0.0030	0.0310	0.0017	0.0017	0.0012	0.0022	0.0328	0.0015	0.0014	0.0286	0.0270	0.0001	0	0.0010	0.0020	0.0004	9.414e-05	0.0204	0.0008	0.0009	0.0328	1.0	0.00964	T	1.0	0.01155	T	0.989	0.62824	D	0.689	0.53736	P	0.121568	0.02730	N	1.775450	1	0.08975	N	1.59	0.40313	L	0.92	0.44461	T	-3.18	0.64478	D	0.24	0.27077	-1.0831	0.06758	T	0.084	0.32900	T	10	0.004032612	0.00078	T	.	.	.	0.053	0.14996	.	.	0.0762999501168	0.06990	0.07542998746863407	0.07478	0.0447508738287	0.04840	.	.	.	0.11461	0.43256	T	-0.657847	0.00065	T	-0.693353	0.06197	T	0.0419195599550089	0.04041	T	0.349965	0.07784	T	0.06261554	0.13096	0.056656428	0.10162	0.06261554	0.13096	0.056656428	0.10161	-3.888	0.22122	T	.	.	0.094	0.14568	B	.	.	1.114042	0.14994	11.50	0.95584321604298716	0.27297	0.03715	0.09002	N	AEFDGBHCI	0.076169	0.15316	N	-0.188137897838867	0.33628	1.909955	-0.349527260884552	0.26523	1.465581	0.999999975344712	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.55	1.02	0.19102	0.141000	0.15897	-1.329000	0.05702	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.440000	0.27671	0.086:0.0:0.387:0.527	6.729	0.22564	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010081	0.005051	0.004076	0.017544	0.000000	0.017241	0.003067	0.018939	0.1667	3130.87	94	chr6	36319517	.	G	A	3130.87	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.341;DP=406;ExcessHet=0.4139;FS=3.388;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.787;SOR=0.507	GT:AD:DP:GQ:PL	0/1:85,85:170:99:1954,0,2162	4	0	2	1
chr6	41194551	41194551	T	A	exonic	TREML2	.	nonsynonymous SNV	TREML2:NM_024807:exon3:c.A659T:p.D220V	.	423	1090	7	2	0	11	0.00502054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00466637289067	.	0.000998403	0.0012	9.825e-05	0.0004	0	0	4.54e-05	0	0.0082	0.0009638	149	154602	rs531665321	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0090	0.0088	2.987e-05	4.472e-05	0	2.519e-05	0	0.0019	3.417e-05	0.0006	0.0095	0.0003	0.0002	5.162e-05	0.0005	0.0078	0.0002	0.0002	0.0058	0.0051	0	0	0	0	0	0	0	1.474e-05	0	0.0078	0.155	0.24183	T	0.158	0.31629	T	0.017	0.17573	B	0.007	0.12992	B	0.985788	0.07870	N	1.007950	0.999999	0.08975	N	-0.345	0.03330	N	3.4	0.05642	T	0.18	0.05035	N	0.057	0.02861	-0.9042	0.47538	T	0.004	0.01400	T	10	0.0045382977	0.00094	T	0.004666	0.11566	T	0.017	0.02790	0.295	0.25881	0.152612264143	0.14878	0.3498052761955854	0.34894	0.298096867107	0.32188	0.244690015912	0.03229	T	0.001453	0.00908	T	-0.699384	0.00037	T	-0.771843	0.02708	T	0.00828773769766304	0.00100	T	0.515049	0.16594	T	0.070450164	0.15517	0.045661457	0.06193	0.070450164	0.15517	0.045661457	0.06193	-2.529	0.05983	T	.	.	0.101	0.17445	B	.	.	0.504523	0.08736	5.510	0.52225886284445622	0.04708	0.02196	0.06414	N	AEFBI	0.037214	0.05083	N	-1.13709118895634	0.05995	0.2748214	-1.16486796287329	0.06505	0.3133402	0.113165199167976	0.16702	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.92	0.988	0.18914	0.425000	0.21065	1.781000	0.28717	-0.249000	0.07183	0.012000	0.18695	0.065000	0.22112	0.029000	0.12982	0.1094:0.0:0.4962:0.3944	4.583	0.11663	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.07143	1185.53	36	chr6	41194551	.	T	A	1185.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.687;DP=290;ExcessHet=0;FS=0.742;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.349;SOR=0.601	GT:AD:DP:GQ:PL	0/1:59,46:105:99:1196,0,1569	6	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4167	261.05	56	chr6	44229406	.	C	T	261.05	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.601;DP=506;ExcessHet=6.1542;FS=331.328;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.67;SOR=8.138	GT:AD:DP:GQ:PL	0/1:86,33:119:33:33,0,1265	1	0	5	1
chr6	53902649	53902649	A	G	exonic	LRRC1	.	nonsynonymous SNV	LRRC1:NM_018214:exon9:c.A808G:p.I270V	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.0213494728963	0.0006	.	0.0003	0.0003	0	0	0	0.0005	0	0.0001	0.0003622	56	154602	rs199592597	0.0009	0.0009	0.0009	0.0009	0.0011	0.0008	0.0008	0.0011	0.0010	0.0003	0.0001	0	0	3.757e-05	0	0.0011	0.0003	6.136e-05	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0007	0.0007	0.0004	0	0.0010	0	0	0	0	0.0009	0	0	0.014	0.53172	D	0.191	0.28391	T	0.958	0.54977	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.365	0.03101	N	0.46	0.56281	T	-0.98	0.25986	N	0.392	0.43320	-1.0256	0.21886	T	0.077	0.30706	T	10	0.17247811	0.32022	T	0.021349	0.44105	T	0.268	0.58254	.	.	0.168254554758	0.16434	0.19939471896802732	0.19856	1.00100662246	0.74402	0.58390212059	0.50636	T	0.043734	0.26594	T	-0.399509	0.02332	T	-0.35281	0.38884	T	0.0738334432244301	0.09179	T	0.880112	0.59716	D	0.15959847	0.35842	0.13474531	0.32280	0.15959847	0.35842	0.13474531	0.32280	-7.541	0.57898	D	.	.	0.238	0.47239	B	.	.	4.224310	0.63925	24.6	0.99888411929963505	0.96281	0.98813	0.87189	D	AEFBI	0.852267	0.76917	D	0.282193659090815	0.55244	3.688742	0.346682780203462	0.58307	4.000597	0.997945442693481	0.36224	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.62	4.46	0.53567	9.143000	0.93800	9.273000	0.79652	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9257:0.0:0.0743:0.0	10.645	0.44805	813	0.42397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	420.83	30	chr6	53902649	.	A	G	420.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.097;DP=230;ExcessHet=0;FS=1.116;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=0.797;SOR=0.478	GT:AD:DP:GQ:PL	0/1:35,20:55:99:431,0,886	6	0	1	0
chr6	55874486	55874486	A	T	exonic	BMP5	.	nonsynonymous SNV	BMP5:NM_001329754:exon1:c.T380A:p.I127K,BMP5:NM_001329756:exon1:c.T380A:p.I127K,BMP5:NM_021073:exon1:c.T380A:p.I127K	.	424	1049	48	1	0	50	0.0232775	.	.	.	3217204	BMP5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.213	.	0.0044	0.00658946	0.0060	0.0012	0.0044	0	0.0017	0.0064	0.0111	0.0130	0.0057114	883	154602	rs148766592	0.0061	0.0061	0.0058	0.0064	0.0134	0.0060	0.0060	0.0128	0.0125	0.0008	0.0033	0.0007	5.04e-05	0.0016	0.0111	0.0064	0.0052	0.0134	0.0043	0.0043	0.0045	0.0041	0.0125	0.0041	0.0039	0.0099	0.0090	0.0011	0	0.0022	0.0006	0.0002	0.0011	0.0102	0.0072	0.0047	0.0125	0.312	0.13925	T	0.279	0.21745	T	0.0	0.02946	B	0.001	0.04355	B	0.016900	0.27861	N	0.409080	0.999942	0.19238	N	0	0.06538	N	-0.55	0.71068	T	-0.32	0.12283	N	0.306	0.34552	-1.0321	0.19777	T	0.078	0.31103	T	10	0.005883813	0.00132	T	.	.	.	0.213	0.50496	.	.	0.673091222706	0.67032	0.38443853275356543	0.38358	0.364414730211	0.38057	0.486332833767	0.36930	T	0.27718	0.64979	T	-0.372903	0.03450	T	-0.297394	0.44999	T	0.0186218125012243	0.00576	T	0.737926	0.35508	T	0.12036941	0.28325	0.18262362	0.41201	0.12036941	0.28325	0.18262362	0.41200	-2.995	0.10127	T	.	.	0.142	0.31203	B	.	.	2.070988	0.26338	17.08	0.86946015747244509	0.16882	0.80071	0.39809	D	AEFGBI	0.406686	0.47907	N	-0.282567121738962	0.29822	1.657207	-0.0970046483997416	0.35514	2.055537	0.999992548734019	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	3.61	0.40494	5.786000	0.68654	8.107000	0.76578	0.756000	0.94297	1.000000	0.71638	0.982000	0.30508	0.830000	0.39126	0.8006:0.0:0.1994:0.0	8.575	0.32753	824	0.40336	TGF-beta, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.000000	0.005435	0.011696	0.050000	0.017241	0.009146	0.022727	0.07143	1658.63	35	chr6	55874486	.	A	T	1658.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.47;DP=317;ExcessHet=0;FS=0.655;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.245;SOR=0.767	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1669,0,1995	6	0	1	0
chr6	56164427	56164427	G	A	exonic	COL21A1	.	nonsynonymous SNV	COL21A1:NM_001318752:exon8:c.C1358T:p.P453L,COL21A1:NM_030820:exon9:c.C1367T:p.P456L,COL21A1:NM_001318751:exon10:c.C1367T:p.P456L	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00519169	0.0057	0	0	0.0007	0	6.881e-05	0	0.0204	0.0017141	265	154602	rs527933100	0.0009	0.0010	0.0005	0.0013	0.0148	0.0009	0.0009	0.0141	0.0138	6.109e-05	0	0	5.209e-05	0	0.0007	2.381e-05	0.0012	0.0148	0.0005	0.0005	0.0003	0.0008	0.0166	0.0004	0.0004	0.0137	0.0126	0	0	0	0	0.0002	0	0	1.471e-05	0	0.0166	0.358	0.14449	T	0.05	0.51421	T	0.006	0.23190	B	0.007	0.18783	B	0.001434	0.39044	N	0.112660	0.999834	0.49637	D	2.1	0.58353	M	1.64	0.27822	T	-3.59	0.70553	D	0.264	0.32148	-1.1171	0.02524	T	0.084	0.32843	T	10	0.008856773	0.00200	T	.	.	.	0.042	0.11227	.	.	0.426084969639	0.42228	0.3145335393957485	0.31366	0.0204687960405	0.02011	0.550921201706	0.45988	T	0.425766	0.77578	T	-0.509844	0.00503	T	-0.492158	0.23164	T	0.0369139304589459	0.03140	T	0.824718	0.48674	T	0.13039154	0.30425	0.11779107	0.28435	0.13039154	0.30425	0.11779107	0.28434	-5.872	0.45195	T	.	.	0.072	0.05979	B	.;.;.	.;.;.	2.204950	0.28123	17.69	0.94706889630660018	0.25366	0.93102	0.57332	D	AEFI	0.441148	0.49942	N	0.385504567462041	0.60636	4.254711	0.445750237918021	0.64443	4.699785	0.304093513934581	0.19219	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.26	5.26	0.73479	3.456000	0.52764	6.532000	0.55860	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0762:0.0:0.9238:0.0	12.583	0.55754	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	0.005040	0.000000	0.001359	0.002924	0.000000	0.008772	0.006098	0.003788	0.08333	468.27	28	chr6	56164427	.	G	A	468.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.972;DP=182;ExcessHet=0;FS=1.281;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.22;SOR=1.127	GT:AD:DP:GQ:PL	0/1:18,20:38:99:478,0,452	5	0	1	1
chr6	56618125	56618125	A	G	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon23:c.T5909C:p.F1970S	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	1	1496	25	0	0	25	0.00828638	.	.	.	308288	Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.172	.	0.0029	0.00299521	0.0048	0.0005	0.0014	0	0.0024	0.0056	0.0044	0.0103	0.0045278	700	154602	rs141573097	0.0045	0.0045	0.0043	0.0047	0.0108	0.0044	0.0044	0.0102	0.0100	0.0006	0.0010	0.0007	2.519e-05	0.0034	0.0076	0.0046	0.0037	0.0108	0.0030	0.0030	0.0032	0.0028	0.0120	0.0028	0.0027	0.0096	0.0087	0.0007	0	0.0007	0.0009	0	0.0021	0.0034	0.0049	0.0019	0.0120	0.13	0.26740	T	0.407	0.14679	T	0.99	0.63424	D	0.858	0.61127	P	.	.	.	.	.	.	.	.	.	.	1.39	0.33842	T	-0.17	0.09627	N	0.679	0.68603	-1.0615	0.11385	T	0.086	0.33298	T	7	0.009896845	0.00222	T	.	.	.	0.172	0.43662	.	.	0.547936802839	0.54449	.	.	.	.	.	.	.	.	.	.	-0.479882	0.00740	T	-0.452698	0.27398	T	0.0369915285635896	0.03154	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-2.129	0.03710	T	.	.	0.691	0.72581	P	.	.	3.190999	0.43354	21.7	0.99826548449264196	0.90852	0.95429	0.64685	D	AEFDBHCI	0.866895	0.78646	D	0.499655924641192	0.67070	5.032908	0.534680830707506	0.70339	5.490656	0.999999938283919	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.596874	0.31795	0	0.755437	0.99637	0	.	.	5.49	5.49	0.81022	4.382000	0.59360	11.261000	0.91078	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.586	0.76226	299	0.88026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.006793	0.020468	0.000000	0.008621	0.009146	0.003788	0.07143	1835.45	54	chr6	56618125	.	A	G	1835.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.244;DP=439;ExcessHet=0;FS=2.984;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.626;SOR=0.542	GT:AD:DP:GQ:PL	0/1:67,73:140:99:1846,0,1628	6	0	1	0
chr6	72265986	72265986	C	T	exonic	RIMS1	.	nonsynonymous SNV	RIMS1:NM_001350435:exon14:c.C1499T:p.A500V,RIMS1:NM_001350457:exon14:c.C1502T:p.A501V,RIMS1:NM_001168407:exon15:c.C1562T:p.A521V,RIMS1:NM_001168408:exon15:c.C1565T:p.A522V,RIMS1:NM_001168409:exon15:c.C1322T:p.A441V,RIMS1:NM_001168410:exon15:c.C1520T:p.A507V,RIMS1:NM_001350414:exon15:c.C1565T:p.A522V,RIMS1:NM_001350415:exon15:c.C1562T:p.A521V,RIMS1:NM_001350416:exon15:c.C1565T:p.A522V,RIMS1:NM_001350417:exon15:c.C1565T:p.A522V,RIMS1:NM_001350420:exon15:c.C1565T:p.A522V,RIMS1:NM_001350422:exon15:c.C1562T:p.A521V,RIMS1:NM_001350425:exon15:c.C1562T:p.A521V,RIMS1:NM_001350427:exon15:c.C1562T:p.A521V,RIMS1:NM_001350433:exon15:c.C1565T:p.A522V,RIMS1:NM_001350438:exon15:c.C1562T:p.A521V,RIMS1:NM_001350439:exon15:c.C1565T:p.A522V,RIMS1:NM_001350441:exon15:c.C1562T:p.A521V,RIMS1:NM_001350442:exon15:c.C1565T:p.A522V,RIMS1:NM_001350443:exon15:c.C1562T:p.A521V,RIMS1:NM_001350445:exon15:c.C1562T:p.A521V,RIMS1:NM_001350446:exon15:c.C1565T:p.A522V,RIMS1:NM_001350448:exon15:c.C1565T:p.A522V,RIMS1:NM_001350452:exon15:c.C1565T:p.A522V,RIMS1:NM_001350456:exon15:c.C1562T:p.A521V,RIMS1:NM_001350461:exon15:c.C1319T:p.A440V,RIMS1:NM_001350463:exon15:c.C1319T:p.A440V,RIMS1:NM_001350464:exon15:c.C1322T:p.A441V,RIMS1:NM_001350465:exon15:c.C1322T:p.A441V,RIMS1:NM_001350466:exon15:c.C1322T:p.A441V,RIMS1:NM_001350469:exon15:c.C1322T:p.A441V,RIMS1:NM_001350472:exon15:c.C1517T:p.A506V,RIMS1:NM_001350473:exon15:c.C1520T:p.A507V,RIMS1:NM_001350418:exon16:c.C1640T:p.A547V,RIMS1:NM_001350421:exon16:c.C1493T:p.A498V,RIMS1:NM_001350424:exon16:c.C1496T:p.A499V,RIMS1:NM_001350428:exon16:c.C1496T:p.A499V,RIMS1:NM_001350430:exon16:c.C1493T:p.A498V,RIMS1:NM_001350434:exon16:c.C1640T:p.A547V,RIMS1:NM_001350437:exon16:c.C1493T:p.A498V,RIMS1:NM_001350450:exon16:c.C1493T:p.A498V,RIMS1:NM_001350458:exon16:c.C1643T:p.A548V,RIMS1:NM_001350459:exon16:c.C1496T:p.A499V,RIMS1:NM_001350462:exon16:c.C1496T:p.A499V,RIMS1:NM_001350470:exon16:c.C1598T:p.A533V,RIMS1:NM_001350436:exon17:c.C1754T:p.A585V,RIMS1:NM_014989:exon22:c.C3335T:p.A1112V	Cone-rod dystrophy 7	.	.	.	.	.	.	.	.	.	.	1346199	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00905553444566	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1309378321	8.398e-06	8.209e-06	1.109e-05	5.655e-06	1.097e-05	4.48e-06	3.54e-06	5.85e-06	4.62e-06	0	0	0	0	0	0	1.097e-05	0	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.532	0.20230	T	0.539	0.19246	T	0.998	0.73220	D	0.986	0.76916	D	0.000029	0.55875	D	0.000000	0.645589	0.81001	D	0.985	0.24966	L	2.48	0.17923	T	-1.36	0.33798	N	0.15	0.40164	-1.0581	0.12235	T	0.044	0.18742	T	10	0.19223928	0.34944	T	0.009056	0.23845	T	0.071	0.20720	.	.	0.412458657427	0.40865	0.3842738174103498	0.38342	0.627175699324	0.56825	0.689488768578	0.65633	T	0.17748	0.52780	T	-0.221997	0.17722	T	-0.55666	0.16692	T	0.878337025642395	0.52826	D	0.949005	0.88939	D	0.13631955	0.31605	0.16655031	0.38470	0.13631955	0.31605	0.16655031	0.38469	-2.79	0.44303	T	.	.	0.205	0.53989	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.323624	0.66194	24.9	0.98491155000689712	0.42096	0.81924	0.41234	D	AEFGI	0.355342	0.44711	N	0.0939962096573432	0.46182	2.86263	0.297019613900266	0.55364	3.699606	0.997587793521083	0.35786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.525792	0.08840	0	.	.	5.8	5.8	0.92081	5.595000	0.67255	7.723000	0.67399	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.056	0.97650	898	0.25240	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	900.49	33	chr6	72265986	.	C	T	900.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.792;DP=221;ExcessHet=0;FS=1.145;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-0.665;SOR=1.038	GT:AD:DP:GQ:PL	0/1:17,38:55:99:911,0,378	6	0	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	420.11	13	chr6	87418396	.	G	C	420.11	.	AC=2;AF=0.25;AN=8;BaseQRankSum=2.35;DP=250;ExcessHet=0.6695;FS=228.186;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=3.33;ReadPosRankSum=2.11;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,27:65:99:.:.:127,0,518:.	2	0	2	3
chr6	89637270	89637274	TAGTT	-	exonic	LYRM2	.	stoploss	LYRM2:NM_020466:exon3:c.266_270del:p.*89delinsLALF*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.184e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs780292406	1.01e-05	8.241e-06	5.132e-06	1.491e-05	0.0001	5.39e-06	4.25e-06	7.722e-05	5.918e-05	0	0	0	0	0	0	0	1.947e-05	0.0001	1.314e-05	1.313e-05	0	2.689e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	310.5	13	chr6	89637269	.	ATAGTT	A	310.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.497;DP=148;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=52.92;MQRankSum=0.52;QD=11.09;ReadPosRankSum=0;SOR=0.593	GT:AD:DP:GQ:PL	0/1:19,9:28:99:321,0,771	6	0	1	0
chr6	89732698	89732698	T	A	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon34:c.A4801T:p.S1601C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.0451170968094	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs752091015	8.209e-06	8.209e-06	4.084e-06	1.238e-05	0.0001	4.38e-06	3.46e-06	7.123e-05	5.481e-05	0	0	0	0	0	0	0	1.656e-05	0.0001	1.315e-05	1.314e-05	0	2.693e-05	0.0004	2.19e-06	8.2e-07	7.333e-05	3.045e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	.	.	.	0.984	0.60733	D	0.945	0.68163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.285	0.90273	M	0.7	0.51474	T	-4.33	0.76740	D	0.896	0.89577	-0.3366	0.73942	T	0.285	0.65655	T	10	0.8129636	0.80562	D	0.045117	0.61823	D	0.621	0.85301	0.644	0.78117	0.496517408137	0.49287	0.841331724582726	0.84093	0.643871819	0.57912	0.675609469414	0.63640	T	0.224286	0.58868	T	0.150698	0.69333	D	0.160218	0.80821	D	0.949600338935852	0.63148	D	0.912209	0.68770	D	0.5442671	0.69636	0.43176138	0.66783	0.5442671	0.69637	0.43176138	0.66784	-12.094	0.85306	D	.	.	0.416	0.60480	A	.;.	.;.	3.936594	0.57579	23.9	0.97590516987568887	0.34786	0.99280	0.93881	D	AEFBI	0.847689	0.76454	D	0.792290712164691	0.85619	8.630938	0.725551428714285	0.84317	8.258913	0.999999328447033	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.31	5.31	0.75063	7.845000	0.85166	7.815000	0.69558	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.0:1.0	15.559	0.75963	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	2042.44	34	chr6	89732698	.	T	A	2042.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.81;DP=348;ExcessHet=0;FS=1.211;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.149;SOR=0.807	GT:AD:DP:GQ:PL	0/1:86,82:168:99:2053,0,1905	6	0	1	0
chr6	117394232	117394232	C	G	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon10:c.G1094C:p.G365A,ROS1:NM_001378891:exon11:c.G1121C:p.G374A,ROS1:NM_001378902:exon11:c.G1121C:p.G374A	.	428	1081	12	1	0	14	0.00643382	.	.	YES	389125	Abnormal_brain_morphology|not_specified|not_provided|ROS1-related_disorder	Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.589	0.0324366346359	0.0004	0.00199681	0.0015	0.0002	8.747e-05	0	0	0.0005	0.0078	0.0084	0.0013713	212	154602	rs61743088	0.0011	0.0012	0.0008	0.0014	0.0093	0.0011	0.0011	0.0087	0.0085	0.0002	0.0003	0.0003	0	0	0.0035	0.0007	0.0014	0.0093	0.0008	0.0008	0.0007	0.0010	0.0104	0.0007	0.0007	0.0081	0.0073	9.626e-05	0	0.0012	0.0006	0	0	0.0034	0.0007	0.0014	0.0104	0.269	0.16628	T	0.0	0.92824	D	0.952	0.54136	P	0.643	0.52216	P	0.000003	0.62929	D	0.000000	0.994478	0.42296	D	2.625	0.76847	M	-2.81	0.91134	D	-1.12	0.28906	N	0.272	0.59393	0.191	0.85756	D	0.650	0.87788	D	10	0.011647165	0.00254	T	0.032437	0.54263	D	0.589	0.83582	.	.	0.651862591771	0.64896	0.6753978926957138	0.67477	0.212456804607	0.23743	0.450533330441	0.32016	T	0.094482	0.39426	T	-0.192162	0.21942	T	-0.0428306	0.67510	D	0.665908217430115	0.39155	D	0.812119	0.46368	T	0.23141274	0.45912	0.2634651	0.52152	0.18795554	0.40273	0.21625353	0.46244	-3.541	0.17010	T	0.3415062108265459	0.43922	0.228	0.46013	B	.;.	.;.	4.229669	0.64035	24.7	0.99734734057097241	0.83047	0.88586	0.48583	D	AEFBI	0.539505	0.55645	D	0.487450922408856	0.66355	4.939554	0.522712078291178	0.69522	5.372288	0.944412870597998	0.27614	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.12	5.12	0.69459	4.968000	0.63441	5.537000	0.48860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.43	0.90568	719	0.55657	.;.	.	.	.	.	.	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	0.003024	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.07143	721.63	33	chr6	117394232	.	C	G	721.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.536;DP=248;ExcessHet=0;FS=0.887;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-1.327;SOR=0.63	GT:AD:DP:GQ:PL	0/1:41,33:74:99:732,0,937	6	0	1	0
chr6	121447061	121447061	A	G	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.A214G:p.I72V	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.787	0.250974127698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.908	0.50127	P	0.669	0.53077	P	0.001142	0.40056	N	0.240936	0.999999	0.58761	D	1.865	0.49290	L	-5.54	0.99184	D	-0.92	0.24676	N	0.498	0.53093	1.093	0.99378	D	0.938	0.97961	D	10	0.8795201	0.87257	D	0.250974	0.89113	D	0.787	0.92948	0.7	0.83684	0.943663086211	0.94307	0.8918822313251208	0.89158	0.856064958791	0.68761	0.738846123219	0.72803	T	0.763452	0.93610	D	0.34166	0.85945	D	0.252994	0.85761	D	0.803063251343763	0.46562	D	0.90391	0.66280	D	0.38390532	0.59598	0.3327721	0.59121	0.38390532	0.59598	0.3327721	0.59121	-6.188	0.47826	T	0.3332976928640002	0.43127	0.176	0.38426	B	.;.;.;.;.	.;.;.;.;.	3.909359	0.56999	23.8	0.99754698206370063	0.84537	0.97121	0.72812	D	AEFBCI	0.942640	0.94747	D	0.628616182966142	0.74992	6.227793	0.663610123529025	0.79629	7.123	0.999999999992006	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	9.325000	0.96006	9.424000	0.80768	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	15.605	0.76411	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	68.06	35	chr6	121447061	.	A	G	68.06	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.713;DP=402;ExcessHet=0;FS=39.474;MLEAC=1;MLEAF=0.083;MQ=57.13;MQRankSum=-3.482;QD=0.6;ReadPosRankSum=2.18;SOR=5.549	GT:AD:DP:GQ:PL	0/1:98,15:113:77:77,0,2316	5	0	1	1
chr6	132553440	132553441	AA	-	exonic	TAAR8	.	frameshift deletion	TAAR8:NM_053278:exon1:c.748_749del:p.K250Efs*7	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	0.00219649	0.0010	9.768e-05	0.0002	0.0009	0	0.0002	0.0011	0.0060	0.000461	12	26028	rs537864861	0.0005	0.0005	0.0003	0.0007	0.0060	0.0005	0.0004	0.0056	0.0054	0.0002	8.944e-05	7.652e-05	0.0005	1.872e-05	0.0024	0.0001	0.0006	0.0060	0.0004	0.0004	0.0002	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	0.0003	0	6.547e-05	0	0.0006	0	0	0.0001	0.0005	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	1291.4	34	chr6	132553439	.	CAA	C	1291.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1;DP=280;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.836;SOR=0.666	GT:AD:DP:GQ:PL	0/1:57,36:93:99:1302,0,2237	6	0	1	0
chr6	138915879	138915879	G	A	exonic	REPS1	.	nonsynonymous SNV	REPS1:NM_001128617:exon13:c.C1618T:p.R540W,REPS1:NM_001286611:exon14:c.C1699T:p.R567W,REPS1:NM_031922:exon14:c.C1696T:p.R566W	.	.	.	.	.	.	.	.	.	.	.	3122556	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.262	0.030098778324	.	.	4.12e-05	0	0	0	0	7.493e-05	0	0	3.88e-05	6	154602	rs762705256	5.687e-05	5.678e-05	5.455e-05	5.921e-05	6.938e-05	4.684e-05	4.308e-05	5.634e-05	5.205e-05	0	0	0	0	0	0	6.938e-05	1.658e-05	5.8e-05	3.287e-05	3.284e-05	6.427e-05	0	7.353e-05	1.261e-05	7.98e-06	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.353e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.975	0.24501	L	1.02	0.40749	T	-4.66	0.81985	D	0.847	0.85766	-0.8582	0.51391	T	0.166	0.50486	T	10	0.49989006	0.61485	T	0.030099	0.52479	D	0.262	0.57482	0.305	0.27485	0.431743554055	0.42795	0.44947203644102157	0.44865	0.911785687652	0.71087	0.764191806316	0.76554	T	0.245256	0.61452	T	0.0659329	0.60351	T	0.0372276	0.72748	D	0.906358420848846	0.56035	D	0.990687	0.97117	D	0.6976965	0.77931	0.39830208	0.64422	0.6976965	0.77932	0.39830208	0.64422	-10.279	0.78297	D	0.6743236263959879	0.74980	0.735	0.82415	P	.;.;.;.;.	.;.;.;.;.	5.482316	0.91393	32	0.99919776879739497	0.98654	0.87521	0.47087	D	AEFBHCI	0.762458	0.69986	D	0.768312605794543	0.84090	8.192068	0.766192313594685	0.87360	9.195748	0.999911170303674	0.45857	0.741868	0.97996	0	0.774882	0.99574	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.96	5.02	0.66742	4.871000	0.62737	9.585000	0.81036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.6237:0.3763	11.728	0.50987	916	0.20744	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1401.49	37	chr6	138915879	.	G	A	1401.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.837;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.358;SOR=0.688	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1412,0,1229	6	0	1	0
chr6	149378547	149378547	A	G	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.A632G:p.N211S,TAB2:NM_001292035:exon3:c.A536G:p.N179S,TAB2:NM_001369506:exon4:c.A632G:p.N211S,TAB2:NM_015093:exon5:c.A632G:p.N211S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0174232180529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.308	0.19845	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.73	0.73100	T	-0.76	0.21215	N	0.832	0.82761	-0.6069	0.64532	T	0.286	0.65763	T	10	0.41120163	0.56237	T	0.017423	0.39111	T	0.289	0.60808	0.142	0.04556	0.838873866338	0.83733	0.5868442608649261	0.58614	0.921335754619	0.71472	0.701119542122	0.67305	T	0.222447	0.58630	T	-0.0361796	0.46514	T	-0.289746	0.45798	T	0.672599494457245	0.39454	D	0.943606	0.78679	D	0.07764685	0.17636	0.09442277	0.22350	0.07764685	0.17635	0.09442277	0.22350	-3.035	0.10563	T	0.6447677205311815	0.71602	0.165	0.36335	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.94975233418001004	0.25908	0.99224	0.93061	D	AEGBI	.	.	.	0.18399020640354	0.50429	3.23311	0.184305151337975	0.48988	3.107472	0.999995086728048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	4.81	0.61401	8.718000	0.91150	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9329:0.0:0.0671:0.0	12.018	0.52617	761	0.50382	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	183.05	34	chr6	149378547	.	A	G	183.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-6.484;DP=811;ExcessHet=1.383;FS=167.635;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=1.81;SOR=10.224	GT:AD:DP:GQ:PL	0/1:212,72:284:88:88,0,4253	3	0	3	1
chr6	152376831	152376831	T	C	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon57:c.A9112G:p.R3038G,SYNE1:NM_182961:exon57:c.A9091G:p.R3031G	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	368458	Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided|not_specified	MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.0314635818369	0.0005	.	8.253e-05	0.0010	0	0	0	0	0	0	6.47e-05	10	154602	rs144643941	3.215e-05	3.215e-05	3.539e-05	2.888e-05	0.0011	2.478e-05	2.221e-05	0.0008	0.0007	0.0011	2.236e-05	0	0	0	0.0003	8.993e-07	9.935e-05	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	0.0001	0	0	0	0.0034	0	0	0	0.004	0.65419	D	0.003	0.92824	D	0.034	0.20480	B	0.012	0.16012	B	0.000081	0.52346	D	0.083492	0.999926	0.51308	D	2.14	0.59869	M	0.6	0.54347	T	-2.88	0.60507	D	0.137	0.18103	-0.9718	0.36819	T	0.124	0.42799	T	10	0.07106033	0.10423	T	0.031464	0.53543	D	0.101	0.28911	.	.	0.480046427281	0.47636	0.1827288753501871	0.18191	0.171162742702	0.19283	0.454336643219	0.32537	T	0.563514	0.85429	D	-0.325305	0.06472	T	-0.290495	0.45722	T	0.124226953160882	0.14838	T	0.870713	0.57574	D	0.39879507	0.60649	0.40716797	0.65070	0.39879507	0.60649	0.40716797	0.65070	-4.477	0.30586	T	.	.	0.110	0.27672	B	.;.;.;.	.;.;.;.	2.285416	0.29230	18.05	0.99480553476745359	0.66850	0.96637	0.70145	D	AEFBI	0.762581	0.69995	D	0.0800165492118859	0.45531	2.808085	0.219170298048402	0.50910	3.278393	0.999999937291382	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.48	5.48	0.80675	3.943000	0.56332	1.181000	0.24696	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.568	0.76047	844	0.36711	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	736.45	34	chr6	152376831	.	T	C	736.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.561;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=1.73;SOR=0.651	GT:AD:DP:GQ:PL	0/1:45,36:81:99:747,0,983	6	0	1	0
chr6	154039668	154039668	T	A	exonic	OPRM1	.	nonsynonymous SNV	OPRM1:NM_000914:exon1:c.T124A:p.S42T,OPRM1:NM_001008503:exon1:c.T124A:p.S42T,OPRM1:NM_001008504:exon1:c.T124A:p.S42T,OPRM1:NM_001008505:exon1:c.T124A:p.S42T,OPRM1:NM_001145282:exon1:c.T124A:p.S42T,OPRM1:NM_001145283:exon1:c.T124A:p.S42T,OPRM1:NM_001145284:exon1:c.T124A:p.S42T,OPRM1:NM_001145285:exon1:c.T124A:p.S42T,OPRM1:NM_001145286:exon1:c.T124A:p.S42T,OPRM1:NM_001285522:exon1:c.T124A:p.S42T,OPRM1:NM_001285523:exon1:c.T124A:p.S42T,OPRM1:NM_001285524:exon2:c.T403A:p.S135T,OPRM1:NM_001145279:exon3:c.T403A:p.S135T	.	421	1073	27	1	0	29	0.0133333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	.	0.0004	0.00179712	0.0023	0.0001	0.0013	0	0	0.0008	0.0023	0.0124	0.0019599	303	154602	rs76546679	0.0011	0.0011	0.0008	0.0015	0.0112	0.0011	0.0011	0.0106	0.0104	2.987e-05	0.0013	0.0005	0	3.746e-05	0.0102	0.0004	0.0016	0.0112	0.0008	0.0008	0.0006	0.0011	0.0091	0.0007	0.0007	0.0070	0.0062	7.216e-05	0	0.0022	0.0003	0.0002	0	0.0034	0.0005	0.0043	0.0091	0.024	0.48642	D	0.069	0.48336	T	0.081	0.40850	B	0.061	0.42166	B	0.962520	0.08214	U	0.977162	0.914176	0.81001	D	0.695	0.17993	N	2.18	0.18875	T	-1.08	0.28084	N	0.139	0.18239	-1.0328	0.19554	T	0.020	0.08360	T	10	0.006665826	0.00151	T	.	.	.	0.163	0.42028	.	.	0.316198179892	0.31222	0.45511110980133274	0.45429	0.053280576852	0.05870	0.608177363873	0.54058	T	0.017584	0.45189	T	-0.439598	0.01300	T	-0.393841	0.34102	T	0.0302764919892629	0.02032	T	0.811819	0.47330	T	0.16551498	0.36828	0.14858486	0.35117	0.16551498	0.36827	0.14858486	0.35116	-3.873	0.21898	T	.	.	0.266	0.50063	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.983720	0.39806	21.0	0.99557280528168701	0.71521	0.00926	0.03595	N	AEFDBHCI	0.227715	0.35149	N	-0.121549881955723	0.36456	2.107419	0.0916358174889391	0.44126	2.700493	0.998891449821908	0.37915	0.487112	0.14033	0	0.563428	0.19063	0	0.606814	0.37721	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	3.186000	0.50643	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	15.041	0.71452	944	0.12746	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.002717	0.000000	0.000000	0.017241	0.015244	0.011364	0.1429	3536.34	34	chr6	154039668	.	T	A	3536.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.129;DP=422;ExcessHet=0.3476;FS=1.456;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.362;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,53:111:99:1|0:154039662_A_G:1321,0,2200:154039662	5	0	2	0
chr6	156778072	156778072	C	T	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001374820:exon1:c.C392T:p.S131F,ARID1B:NM_001374828:exon1:c.C392T:p.S131F,ARID1B:NM_017519:exon1:c.C392T:p.S131F,ARID1B:NM_001371656:exon2:c.C392T:p.S131F	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.856241003708	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1015004964	1.081e-05	1.094e-05	1.138e-05	1.022e-05	3.167e-05	6.49e-06	5.15e-06	7.53e-06	5.89e-06	3.167e-05	0	0	0	0	0	1.298e-05	0	0	6.603e-06	6.57e-06	1.29e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.003	0.68238	D	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0	0.06538	N	0.92	0.44461	T	-0.02	0.07299	N	0.228	0.25622	-1.0548	0.13093	T	0.064	0.26667	T	7	0.2696181	0.44489	T	0.856241	0.98894	D	0.032	0.07718	0.176	0.08257	0.309943084671	0.30607	0.4526030188365993	0.45178	0.319986332736	0.34200	0.893406271935	0.95677	D	0.012059	0.10661	T	-0.0987618	0.36631	T	-0.379641	0.35764	T	0.394015596585148	0.28717	T	0.435556	0.11926	T	0.14253068	0.32797	0.2738107	0.53303	0.14253068	0.32796	0.2738107	0.53302	-9.98	0.74050	D	.	.	0.225	0.51523	B	.;.;.;.	.;.;.;.	3.062102	0.41128	21.3	0.96624895271978106	0.30495	0.28479	0.23565	N	ALL	0.189580	0.31683	N	-0.109976281278599	0.36958	2.143407	-0.140172796649255	0.33788	1.936528	0.999999999999201	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.26	2.26	0.27418	0.954000	0.28772	3.693000	0.39502	0.494000	0.22454	0.975000	0.34726	1.000000	0.68203	0.804000	0.37906	0.0:1.0:0.0:0.0	9.457	0.37927	936	0.14734	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	867.27	23	chr6	156778072	.	C	T	867.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.08;DP=235;ExcessHet=0;FS=0.951;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.199;SOR=0.556	GT:AD:DP:GQ:PL	0/1:28,37:65:99:877,0,717	5	0	1	1
chr6	158503306	158503306	C	T	exonic	TULP4	.	nonsynonymous SNV	TULP4:NM_020245:exon13:c.C3643T:p.P1215S	.	431	1075	16	0	0	16	0.00738689	.	.	.	2828089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00776409537166	0.0032	0.00159744	0.0025	9.636e-05	0.0016	0.0001	0.0017	0.0030	0.0055	0.0038	0.0023092	357	154602	rs34395018	0.0026	0.0026	0.0026	0.0027	0.0049	0.0026	0.0025	0.0034	0.0033	0.0002	0.0012	0.0140	7.557e-05	0.0015	0.0049	0.0025	0.0030	0.0038	0.0020	0.0020	0.0021	0.0018	0.0058	0.0018	0.0017	0.0041	0.0036	0.0003	0.0022	0.0014	0.0130	0	0.0008	0	0.0026	0.0019	0.0058	0.185	0.21550	T	0.837	0.03642	T	0.002	0.09854	B	0.003	0.08700	B	0.000108	0.50451	D	0.177152	1	0.81001	D	0.95	0.23787	L	2.02	0.21119	T	-0.68	0.19509	N	0.101	0.08366	-1.0660	0.10316	T	0.019	0.07939	T	10	0.0028075874	0.00044	T	0.007764	0.20589	T	0.044	0.11924	.	.	0.082315109003	0.07666	0.4074727361748247	0.40663	0.23410116099	0.25944	0.423403203487	0.28305	T	0.012719	0.11127	T	-0.528079	0.00394	T	-0.531333	0.19154	T	0.00480502856579419	0.00052	T	0.725627	0.33984	T	0.05243216	0.09778	0.08808948	0.20519	0.05243216	0.09777	0.08808948	0.20518	-4.148	0.25995	T	.	.	0.076	0.05979	B	.	.	1.685817	0.21482	15.22	0.86066393770840699	0.16291	0.90874	0.52424	D	AEFDBI	0.191881	0.31906	N	-0.52677038843786	0.21218	1.124423	-0.43622951719758	0.23941	1.308365	0.97568999832254	0.29655	0.706298	0.61202	0	0.577304	0.33150	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.08	3.28	0.36691	1.774000	0.38203	1.394000	0.26140	0.599000	0.40250	0.994000	0.38300	0.974000	0.29927	0.739000	0.35404	0.0:0.738:0.262:0.0	15.500	0.75421	693	0.58582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.001359	0.000000	0.000000	0.017241	0.021341	0.007576	0.1429	3594.26	43	chr6	158503306	.	C	T	3594.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.196;DP=468;ExcessHet=0.3476;FS=0.44;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.529;SOR=0.659	GT:AD:DP:GQ:PL	0/1:65,63:128:99:1613,0,1612	5	0	2	0
chr6	159682532	159682532	C	T	exonic	SOD2	.	stopgain	SOD2:NM_001024466:exon4:c.G513A:p.W171X,SOD2:NM_001322814:exon4:c.G513A:p.W171X,SOD2:NM_001322815:exon4:c.G450A:p.W150X,SOD2:NM_000636:exon5:c.G630A:p.W210X,SOD2:NM_001024465:exon5:c.G630A:p.W210X,SOD2:NM_001322819:exon5:c.G492A:p.W164X,SOD2:NM_001322820:exon5:c.G492A:p.W164X,SOD2:NM_001322817:exon7:c.G492A:p.W164X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.74	0.81857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.;.;.;.	High;High;.;.;.;.	8.758733	0.97983	38	0.99444695447487863	0.64971	0.94447	0.61195	D	AEFDBCIJ	0.311096	0.41692	N	0.900550967993602	0.91786	11.06385	0.786354915685323	0.88828	9.73137	0.999999999976672	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.98	5.11	0.69188	7.813000	0.84661	7.578000	0.60885	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8756:0.1243:0.0	17.431	0.87431	720	0.55521	Manganese/iron superoxide dismutase, C-terminal;Manganese/iron superoxide dismutase, C-terminal;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1464.46	33	chr6	159682532	.	C	T	1464.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.007;DP=305;ExcessHet=0;FS=1.485;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.649;SOR=0.859	GT:AD:DP:GQ:PL	0/1:52,63:115:99:1475,0,1143	6	0	1	0
chr6	160048478	160048478	C	G	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon18:c.C2449G:p.L817V	Hepatocellular carcinoma, somatic	427	993	99	3	0	105	0.0502152	.	.	.	699422	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0062	0.0071885	0.0094	0.0009	0.0062	0	0.0056	0.0092	0.0154	0.0237	0.0086739	1341	154602	rs8191808	0.0072	0.0072	0.0064	0.0080	0.0397	0.0071	0.0071	0.0355	0.0339	0.0009	0.0059	0.0307	5.038e-05	0.0058	0.0397	0.0056	0.0098	0.0237	0.0059	0.0059	0.0059	0.0059	0.0215	0.0056	0.0055	0.0182	0.0169	0.0010	0.0066	0.0050	0.0288	0.0006	0.0061	0.0442	0.0069	0.0085	0.0215	0.088	0.32296	T	0.012	0.63918	D	0.981	0.59675	D	0.832	0.59730	P	0.000462	0.44119	D	0.151190	0.999783	0.49076	D	.	.	.	3.84	0.03675	T	-1.35	0.33598	N	0.529	0.55799	-1.0289	0.20811	T	0.017	0.06998	T	10	0.005435288	0.00120	T	.	.	.	0.125	0.34456	.	.	0.391520894214	0.38767	0.6234013171663959	0.62273	0.452284579307	0.44955	0.323376655579	0.13932	T	0.135816	0.46784	T	-0.458906	0.00998	T	-0.413039	0.31874	T	0.0227990608119091	0.01000	T	0.867113	0.56785	D	0.13013394	0.30373	0.119077824	0.28742	0.1522377	0.34567	0.119077824	0.28741	-6.3	0.48722	T	.	.	0.127	0.27069	B	.;.	.;.	3.252730	0.44454	21.9	0.99696098389600929	0.80316	0.90954	0.52577	D	AEFBI	0.374056	0.45910	N	0.461876900785595	0.64879	4.752795	0.419132398140247	0.62757	4.496646	0.998863673749533	0.37845	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.3	4.31	0.50718	1.419000	0.34400	3.200000	0.36746	0.599000	0.40250	0.796000	0.29669	0.998000	0.33993	0.927000	0.46353	0.0:0.8324:0.0:0.1676	10.337	0.43037	784	0.47045	.;.	.	.	.	.	.	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	0.025706	0.005051	0.014946	0.049708	0.000000	0.025862	0.036810	0.018939	0.1429	3433.24	36	chr6	160048478	.	C	G	3433.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.075;DP=485;ExcessHet=0.3476;FS=1.312;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.61;SOR=0.607	GT:AD:DP:GQ:PL	0/1:78,76:154:99:1721,0,1712	5	0	2	0
chr6	160080143	160080143	G	A	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon39:c.G5701A:p.V1901I	Hepatocellular carcinoma, somatic	426	1092	4	0	0	4	0.00182815	.	.	.	710307	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.106	.	0.0085	0.00419329	0.0068	0.0109	0.0034	0	0.0064	0.0094	0.0022	0.0002	0.006811	1053	154602	rs76130099	0.0086	0.0086	0.0089	0.0083	0.0105	0.0085	0.0084	0.0098	0.0098	0.0105	0.0031	0.0008	5.038e-05	0.0081	0.0019	0.0100	0.0078	0.0006	0.0086	0.0086	0.0088	0.0083	0.0116	0.0082	0.0080	0.0107	0.0104	0.0116	0.0011	0.0056	0.0006	0	0.0092	0	0.0092	0.0057	0.0006	0.091	0.31834	T	0.081	0.41742	T	0.0	0.02946	B	0.0	0.01387	B	0.771736	0.09543	N	0.906581	1	0.08975	N	.	.	.	0.98	0.42122	T	-0.17	0.09627	N	0.035	0.01004	-0.9761	0.35882	T	0.031	0.13286	T	10	0.0041763186	0.00083	T	.	.	.	0.106	0.30130	.	.	0.257342827899	0.25358	0.31332803680986493	0.31245	0.324506436646	0.34611	0.287161797285	0.08510	T	0.214586	0.57622	T	-0.666158	0.00058	T	-0.719278	0.04831	T	0.00904288406811627	0.00113	T	0.351565	0.07865	T	0.05379327	0.10230	0.054880302	0.09522	0.06840943	0.14901	0.054880302	0.09521	-4.5	0.30889	T	.	.	0.073	0.04599	B	.;.	.;.	1.692309	0.21561	15.25	0.76105273933243756	0.11335	0.77248	0.37960	D	AEFBCI	0.182026	0.30934	N	-0.96359037734644	0.09390	0.444202	-0.898165217537696	0.12137	0.6225977	0.271452905788446	0.18896	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.5	1.62	0.22817	2.043000	0.40854	5.718000	0.49457	-1.611000	0.00880	0.971000	0.34370	1.000000	0.68203	0.002000	0.04165	0.2095:0.0:0.7905:0.0	11.785	0.51308	607	0.67291	Fibronectin type II domain|Fibronectin type II domain|Fibronectin type II domain;Fibronectin type II domain|Fibronectin type II domain|Fibronectin type II domain	.	.	.	.	rs76130099	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.002717	0.011696	0.000000	0.000000	0.000000	0.000000	0.07143	1134.46	33	chr6	160080143	.	G	A	1134.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.86;DP=278;ExcessHet=0;FS=1.625;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.988;SOR=0.542	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1145,0,1147	6	0	1	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1161.15	37	chr6	167976271	.	T	*	1161.15	.	AC=2;AF=0.167;AN=12;DP=319;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=41.25;QD=11.06;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:32:84:1|0:167976258_GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA_G:1325,1176,1164:167976258	4	0	2	1
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1243.27	37	chr6	167976273	.	A	*	1243.27	.	AC=2;AF=0.167;AN=12;DP=318;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=42.58;QD=11.62;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:32:84:1|0:167976258_GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA_G:1325,1176,1164:167976258	4	0	2	1
chr6	168308990	168308990	G	A	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286350:exon3:c.C257T:p.P86L,DACT2:NM_214462:exon4:c.C767T:p.P256L	.	385	1135	2	0	0	2	0.000880282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00625318443322	.	0.000199681	0.0002	0	0	0	0	0	0.0062	0.0003	2.59e-05	4	154602	rs557143737	2.72e-05	2.873e-05	1.13e-05	4.354e-05	0.0004	2.022e-05	1.771e-05	0.0003	0.0002	0	8.406e-05	0	5.596e-05	0	0	1.854e-06	0	0.0004	3.282e-05	3.281e-05	0	6.712e-05	0.0004	1.26e-05	7.97e-06	7.287e-05	3.028e-05	0	0	6.532e-05	0	0	0	0	2.94e-05	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.001	0.04355	B	0.104520	0.19700	N	0.464657	0.999909	0.29637	N	-1.975	0.00204	N	1.22	0.37052	T	1.89	0.00461	N	0.05	0.05287	-0.9440	0.41976	T	0.005	0.01688	T	10	0.015680939	0.00329	T	0.006253	0.16406	T	0.070	0.20419	0.336	0.32491	0.0138822411134	0.00435	0.058312770654189966	0.05772	.	.	0.259667128325	0.04852	T	0.044805	0.26927	T	-0.564216	0.00239	T	-0.752041	0.03407	T	0.00983956973385142	0.00130	T	0.470053	0.13899	T	0.028870532	0.02291	0.030175356	0.01442	0.028870532	0.02290	0.030175356	0.01442	-2.534	0.06018	T	.	.	0.072	0.04238	B	.;.	.;.	0.273434	0.06509	2.989	0.4548933884034112	0.03574	0.00719	0.03031	N	AEFDBI	.	.	.	-1.54073743668531	0.01589	0.06944841	-1.40673815638005	0.03184	0.1480131	0.95218938723758	0.28001	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.09	-0.444	0.11634	2.548000	0.45455	3.959000	0.40733	-0.865000	0.02600	0.359000	0.25834	0.092000	0.22550	0.000000	0.00833	0.7257:0.0:0.2743:0.0	7.248	0.25307	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	.	.	.	.	.	.	.	.	0.07143	1315.63	40	chr6	168308990	.	G	A	1315.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.03;DP=273;ExcessHet=0;FS=0.825;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-0.164;SOR=0.579	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1326,0,927	6	0	1	0
chr6	169704085	169704085	C	T	exonic	PHF10	.	nonsynonymous SNV	PHF10:NM_018288:exon12:c.G1415A:p.R472H,PHF10:NM_133325:exon12:c.G1409A:p.R470H	.	434	1085	3	0	0	3	0.00138058	.	.	.	2425208	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.251	0.0242583705988	0.0002	.	0.0003	9.897e-05	8.688e-05	0	0	0.0005	0	6.105e-05	0.0002652	41	154602	rs148902304	0.0004	0.0004	0.0004	0.0004	0.0030	0.0003	0.0003	0.0019	0.0016	3.272e-05	0.0002	0	0	0	0.0030	0.0004	0.0004	0.0002	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	4.814e-05	0	6.543e-05	0	0	9.441e-05	0.0068	0.0006	0	0	0.165	0.23271	T	0.272	0.29153	T	0.025	0.36353	B	0.007	0.27432	B	0.000001	0.84330	D	0.097141	0.999972	0.81001	D	1.125	0.28843	L	-1.9	0.84628	D	-1.94	0.45042	N	0.458	0.50056	-0.4487	0.70443	T	0.272	0.64412	T	10	0.2258035	0.39419	T	0.024258	0.47246	T	0.251	0.56024	.	.	0.734209617351	0.73183	0.34825290879364	0.34739	0.642214380187	0.57793	0.795113682747	0.81219	T	0.064257	0.32388	T	-0.217305	0.18363	T	-0.229911	0.51779	T	0.0332748778164387	0.02516	T	0.885611	0.62800	D	0.19651626	0.41482	0.13818283	0.33008	0.19651626	0.41482	0.13818283	0.33007	-6.26	0.48619	T	.	.	0.170	0.37407	B	.;.;.	.;.;.	4.065162	0.60355	24.2	0.99418440884271686	0.63645	0.87435	0.46974	D	AEFDBCI	0.549235	0.56220	D	-0.00539596092224121	0.41610	2.492	0.178254516278885	0.48656	3.078741	0.999999902358125	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.662677	0.59975	0	0.651492	0.60203	0	.	.	6.17	5.31	0.75063	3.176000	0.50564	7.686000	0.65553	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9317:0.0:0.0683	14.878	0.70147	976	0.04745	.;Zinc finger, PHD-finger|Zinc finger, PHD-finger|Zinc finger, PHD-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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	256.94	23	chr6	169704085	.	C	T	256.94	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.91;DP=159;ExcessHet=0;FS=5.402;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=1.29;SOR=0.197	GT:AD:DP:GQ:PL	0/1:20,12:32:99:267,0,438	6	0	1	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	235.98	5	chr7	290725	.	C	G	235.98	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.189;DP=159;ExcessHet=2.5225;FS=183.453;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=1.23;SOR=7.742	GT:AD:DP:GQ:PL	0/1:27,9:36:26:26,0,408	3	0	4	0
chr7	1434651	1434651	T	G	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon17:c.A2660C:p.K887T	.	427	1051	44	0	0	44	0.0205033	.	.	.	710839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.072	.	0.0038	0.00559105	0.0075	0.0004	0.0084	0	0	0.0071	0.0165	0.0227	0.0064747	1001	154602	rs138745697	0.0044	0.0045	0.0039	0.0049	0.0215	0.0043	0.0042	0.0183	0.0172	0.0009	0.0044	0.0545	2.55e-05	0.0002	0.0215	0.0026	0.0072	0.0163	0.0038	0.0038	0.0037	0.0039	0.0168	0.0035	0.0034	0.0138	0.0127	0.0005	0.0022	0.0026	0.0527	0	9.411e-05	0.0034	0.0034	0.0057	0.0168	0.004	0.65419	D	0.032	0.53426	D	0.969	0.56768	D	0.483	0.47159	P	0.350276	0.13826	N	0.544804	0.767714	0.34114	D	1.795	0.47270	L	-0.99	0.75911	T	-3.09	0.63438	D	0.329	0.36989	-0.6582	0.62355	T	0.182	0.52934	T	10	0.0042794943	0.00086	T	.	.	.	0.072	0.21020	.	.	0.813371712031	0.81161	0.498556905756521	0.49776	0.0563641266725	0.06225	0.314815610647	0.12636	T	0.031948	0.22272	T	-0.361974	0.04019	T	-0.279102	0.46896	T	0.0432402127885874	0.04282	T	0.793221	0.43505	T	0.1289492	0.30132	0.13869622	0.33115	0.11091681	0.26213	0.13869622	0.33115	-11.399	0.81801	D	.	.	0.216	0.44514	B	.	.	2.476055	0.31918	18.89	0.99679674905047677	0.79174	0.72201	0.35348	D	AEFBCI	0.245405	0.36634	N	-0.148444094394642	0.35299	2.025895	-0.212759033387074	0.31076	1.755432	0.106967155977715	0.16543	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.553173	0.17726	1	.	.	2.97	0.525	0.16266	-0.513000	0.06389	0.069000	0.14235	0.663000	0.56723	0.005000	0.17040	0.973000	0.29867	0.992000	0.67800	0.0:0.1971:0.0:0.8029	6.177	0.19662	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.010101	0.010870	0.020468	0.000000	0.025862	0.012195	0.007576	0.07143	1440.44	35	chr7	1434651	.	T	G	1440.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.714;DP=359;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-1.053;SOR=0.686	GT:AD:DP:GQ:PL	0/1:90,70:160:99:1451,0,2111	6	0	1	0
chr7	6622036	6622036	G	C	exonic	ZNF853	.	nonsynonymous SNV	ZNF853:NM_001353546:exon3:c.G1000C:p.E334Q,ZNF853:NM_017560:exon3:c.G1045C:p.E349Q	.	391	1128	3	0	0	3	0.00132802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0066	0	0.0028	0	0	0.0016	0.0165	0.0136	0.000925	143	154602	rs531568646	0.0011	0.0010	0.0006	0.0015	0.0141	0.0010	0.0010	0.0134	0.0131	3.173e-05	5.607e-05	0.0008	5.598e-05	0	0.0023	0.0002	0.0015	0.0141	0.0005	0.0005	0.0003	0.0007	0.0104	0.0004	0.0004	0.0081	0.0073	0	0	0.0002	0.0006	0	0.0002	0	0.0003	0.0005	0.0104	0.0	0.91255	D	1.0	0.01155	T	0.054	0.22658	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.54	0.30133	T	-0.79	0.21860	N	0.088	0.06587	.	.	.	.	.	.	.	0.002908498	0.00047	T	.	.	.	.	.	.	.	0.444404870569	0.44059	0.29549003028057685	0.29462	0.00824714859196	0.00747	0.448020964861	0.31673	T	0.015135	0.12752	T	-0.5398	0.00336	T	-0.536486	0.18643	T	.	.	.	0.354665	0.08016	T	0.29915228	0.52828	0.17286074	0.39571	0.29915228	0.52828	0.17286074	0.39570	-4.268	0.27726	T	.	.	0.158	0.35013	B	.	.	2.501779	0.32295	19.00	0.83817051210120541	0.14936	0.08150	0.14114	N	AEFDGBHCI	0.046477	0.07723	N	.	.	.	.	.	.	0.999980893610062	0.51787	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	2.78	0.747	0.17520	1.335000	0.33444	.	.	0.672000	0.70159	0.027000	0.20232	1.000000	0.68203	0.998000	0.85391	0.0:0.4086:0.3833:0.2081	5.902	0.18215	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007418	0.005682	0.000000	0.003425	0.000000	0.031250	0.004098	0.028736	0.07143	625.53	26	chr7	6622036	.	G	C	625.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.127;DP=189;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.155;SOR=0.804	GT:AD:DP:GQ:PL	0/1:20,26:46:99:636,0,511	6	0	1	0
chr7	15365563	15365563	C	T	exonic	AGMO	.	nonsynonymous SNV	AGMO:NM_001004320:exon12:c.G1214A:p.R405Q	.	426	1087	7	2	0	11	0.00503432	.	.	YES	1327039	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.015139513284	0.0002	0.00119808	0.0010	0.0004	0.0006	0	0	0.0004	0.0011	0.0046	0.0008021	124	154602	rs181773805	0.0004	0.0004	0.0003	0.0005	0.0048	0.0004	0.0003	0.0044	0.0043	0.0004	0.0002	0	0	7.491e-05	0.0009	7.019e-05	0.0005	0.0048	0.0004	0.0004	0.0002	0.0005	0.0052	0.0003	0.0003	0.0036	0.0031	0.0007	0	6.561e-05	0	0	9.461e-05	0	0	0	0.0052	0.151	0.54683	T	0.584	0.92824	T	0.261	0.31520	B	0.014	0.16862	B	0.002363	0.36688	N	0.254889	1	0.08975	N	2.375	0.68372	M	1.55	0.29866	T	-0.44	0.47175	N	0.456	0.49328	-1.0507	0.14203	T	0.057	0.24018	T	10	0.0037632883	0.00070	T	0.01514	0.35698	T	0.059	0.16972	.	.	0.185906805712	0.18197	0.5229520041165477	0.52218	0.00131116575826	0.00112	0.24205134809	0.02977	T	0.013942	0.11965	T	-0.506979	0.00522	T	-0.500338	0.22313	T	0.00948262720958515	0.00122	T	0.848715	0.53056	T	0.055814307	0.10899	0.05426692	0.09301	0.055814307	0.10899	0.05426692	0.09301	-3.786	0.20595	T	.	.	0.093	0.14797	B	.;.	.;.	1.630169	0.20816	14.92	0.9863889435903912	0.44028	0.02356	0.06718	N	AEFI	0.153136	0.27795	N	-0.739343462059541	0.14924	0.7476628	-0.79495319520093	0.14619	0.764765	1.84712510751459E-5	0.02871	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.78	2.01	0.25568	-0.098000	0.10993	0.065000	0.14184	0.599000	0.40250	0.033000	0.20612	0.001000	0.17328	0.961000	0.51904	0.0:0.5672:0.0:0.4328	8.294	0.31136	963	0.08280	.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.07143	1034.63	40	chr7	15365563	.	C	T	1034.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.77;SOR=0.707	GT:AD:DP:GQ:PL	0/1:61,45:106:99:1045,0,1365	6	0	1	0
chr7	16600829	16600829	G	A	exonic	ANKMY2	.	nonsynonymous SNV	ANKMY2:NM_020319:exon10:c.C1258T:p.L420F	.	426	1044	50	2	0	54	0.0252101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	.	0.0067	0.00439297	0.0071	0.0013	0.0058	0	0.0008	0.0104	0.0132	0.0040	0.0068563	1060	154602	rs35504966	0.0067	0.0067	0.0065	0.0069	0.0562	0.0066	0.0065	0.0511	0.0492	0.0029	0.0055	0.0747	0	0.0011	0.0562	0.0054	0.0121	0.0046	0.0064	0.0064	0.0068	0.0060	0.0087	0.0061	0.0060	0.0075	0.0070	0.0015	0	0.0087	0.0786	0.0002	0.0009	0.0476	0.0064	0.0133	0.0050	0.088	0.32296	T	0.141	0.33442	T	0.119	0.26641	B	0.07	0.27859	B	0.298204	0.03938	N	1.466450	1	0.08975	N	0.345	0.11182	N	-0.75	0.73311	T	-0.63	0.18459	N	0.045	0.01740	-0.8165	0.54152	T	0.214	0.57547	T	10	0.0029207766	0.00047	T	.	.	.	0.219	0.51417	.	.	0.626644753645	0.62360	0.12344504020081694	0.12270	0.0543416032406	0.06012	0.250016897917	0.03769	T	0.001235	0.00725	T	-0.539205	0.00339	T	-0.543302	0.17974	T	0.00773720539080692	0.00090	T	0.448855	0.12628	T	0.044852592	0.07242	0.06048345	0.11525	0.044852592	0.07242	0.06048345	0.11524	-5.901	0.45444	T	.	.	0.068	0.02829	B	.	.	1.195981	0.15877	12.16	0.97636649181179258	0.35051	0.05254	0.11090	N	AEFBI	0.061389	0.11733	N	-0.782526810651424	0.13765	0.6805295	-0.788620490741912	0.14774	0.7737219	0.00813037390479041	0.11615	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.97	2.83	0.32150	0.199000	0.17037	1.786000	0.28758	0.676000	0.76740	0.000000	0.06391	0.009000	0.19889	0.556000	0.30317	0.0:0.4482:0.5518:0.0	12.596	0.55826	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.037261	0.020202	0.042120	0.090643	0.000000	0.034483	0.012195	0.011364	0.07143	1167.63	35	chr7	16600829	.	G	A	1167.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.327;DP=281;ExcessHet=0;FS=2.612;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-2.235;SOR=0.965	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1178,0,1116	6	0	1	0
chr7	16636457	16636457	-	AA	splicing	ANKMY2	NM_020319:exon2:c.68-2->TT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0009	0.0059	0.0027	0.0005	0.0030	0.0028	0.0053	0.0006147	16	26028	rs34755603	0.0048	0.0093	0.0049	0.0047	0.0115	0.0047	0.0047	0.0104	0.0100	0.0033	0.0115	0.0034	0.0030	0.0040	0.0044	0.0046	0.0049	0.0073	0.0002	0.0003	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	8.191e-05	0	0.0001	0	0	0.0004	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	318.56	12	chr7	16636457	.	T	TAA	318.56	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.042;DP=87;ExcessHet=2.5225;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=0.355;SOR=0.839	GT:AD:DP:GQ:PL	0/1:6,4:10:99:108,0,185	6	0	1	0
chr7	21903033	21903033	G	A	exonic	CDCA7L	.	nonsynonymous SNV	CDCA7L:NM_001127371:exon8:c.C1141T:p.L381F,CDCA7L:NM_018719:exon9:c.C1279T:p.L427F,CDCA7L:NM_001127370:exon10:c.C1177T:p.L393F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	0.0699454345617	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299767891	6.842e-07	6.841e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.295	0.90403	M	0.34	0.58613	T	-3.74	0.71042	D	0.86	0.86941	0.027	0.82799	D	0.441	0.77928	T	10	0.9467933	0.94006	D	0.069945	0.70868	D	0.545	0.81077	0.858	0.95662	0.780657852685	0.77863	0.7880493888786723	0.78756	1.91311269366	0.92925	0.735585093498	0.72323	T	0.626378	0.88361	D	0.091594	0.63367	D	-0.106208	0.62911	T	0.998971581459045	0.95761	D	0.952605	0.92599	D	0.79861253	0.83817	0.76817507	0.86309	0.79861253	0.83818	0.76817507	0.86310	-9.477	0.70716	D	.	.	0.941	0.88401	P	.;.;.	.;.;.	5.421571	0.90701	31	0.99890813410612078	0.96513	0.98623	0.84820	D	AEFBI	0.700675	0.65762	D	0.795052017268525	0.85796	8.684041	0.724310667477347	0.84223	8.232992	0.999999999097164	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.43	4.55	0.55429	6.889000	0.75444	9.935000	0.82611	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0714:0.0:0.9286:0.0	14.355	0.66294	822	0.40702	.;Zinc-finger domain of monoamine-oxidase A repressor R1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	178.92	51	chr7	21903033	.	G	A	178.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.872;DP=533;ExcessHet=0.4139;FS=238.164;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0.241;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,31:136:90:.:.:90,0,2633:.	4	0	2	1
chr7	30285550	30285558	GCCGCGGCG	-	exonic	ZNRF2	.	nonframeshift deletion	ZNRF2:NM_147128:exon1:c.193_201del:p.A69_A71del	.	1240	277	3	2	0	7	0.0124777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1417295176	0.0025	0.0015	0.0024	0.0025	0.0070	0.0024	0.0023	0.0059	0.0056	0.0058	0.0029	0	0.0024	0	0.0067	0.0023	0.0031	0.0070	0.0033	0.0033	0.0035	0.0032	0.0072	0.0031	0.0030	0.0056	0.0054	0.0063	0.0321	0.0019	0.0003	0.0021	0.0009	0.0072	0.0017	0.0020	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	127.43	3	chr7	30285549	.	CGCCGCGGCG	C	127.43	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.967;DP=37;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,2:8:66:66,0,237	4	0	2	1
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	0.07143	1329.53	37	chr7	36618320	.	G	A	1329.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.14;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=1.42;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,37:86:99:0|1:36618320_G_A:1340,0,1806:36618320	6	0	1	0
chr7	44109137	44109139	AGG	-	exonic	AEBP1	.	nonframeshift deletion	AEBP1:NM_001129:exon8:c.1049_1051del:p.E352del	.	419	1099	4	0	0	4	0.00181653	.	.	.	1498944	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0035	.	0.0002	0	0.0003	0	0	0.0002	0	0.0002	0.0001552	24	154602	rs776612900	0.0002	0.0002	0.0002	0.0003	0.0064	0.0002	0.0002	0.0048	0.0042	5.974e-05	0.0005	7.652e-05	0	1.888e-05	0.0064	0.0002	0.0008	0.0002	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	7.22e-05	0	0.0005	0	0	0	0.0034	0.0004	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004532	0.005051	0.004076	0.014620	0.000000	0.000000	0.000000	0.000000	0.1429	1928.98	35	chr7	44109136	.	AAGG	A	1928.98	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.58;DP=262;ExcessHet=0;FS=3.071;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=30.62;ReadPosRankSum=-0.078;SOR=0.112	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,61:63:99:1|1:44109136_AAGG_A:1949,169,0:44109136	6	1	0	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	453.83	72	chr7	47829595	.	G	C	453.83	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-2.551;DP=502;ExcessHet=2.5225;FS=302.8;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.904;SOR=8.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,29:85:99:0|1:47829595_G_C:170,0,1269:47829595	1	0	4	2
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1400.92	70	chr7	47829596	.	G	C	1400.92	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.226;DP=584;ExcessHet=14.2834;FS=320.552;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.96;ReadPosRankSum=0.688;SOR=10.536	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,29:85:99:0|1:47829595_G_C:170,0,1269:47829595	0	0	7	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	512.99	52	chr7	48103309	.	A	G	512.99	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.199;DP=532;ExcessHet=2.5225;FS=97.472;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=0.37;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,12:110:79:.:.:79,0,3604:.	3	0	4	0
chr7	48278822	48278822	A	G	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon18:c.A7628G:p.H2543R	.	.	.	.	.	.	.	.	.	.	.	2828475	not_provided|ABCA13-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.149	0.00650325006494	0.0010	0.000399361	0.0011	0	0.0004	0	0.0006	0.0018	0.0022	0.0003	0.001022	158	154602	rs191015288	0.0012	0.0012	0.0012	0.0012	0.0014	0.0012	0.0011	0.0014	0.0014	5.974e-05	0.0005	0.0003	2.52e-05	0.0003	0.0002	0.0014	0.0014	0.0003	0.0013	0.0013	0.0012	0.0014	0.0025	0.0011	0.0011	0.0019	0.0017	0.0003	0	0.0025	0.0006	0	0.0005	0.0034	0.0018	0.0033	0.0008	0.016	0.51853	D	0.013	0.63109	D	.	.	.	.	.	.	0.004504	0.33669	N	0.134020	1	0.08975	N	.	.	.	0.38	0.57575	T	-2.6	0.55983	D	0.083	0.05929	-0.9969	0.30783	T	0.114	0.40559	T	10	0.0078805685	0.00179	T	0.006503	0.17129	T	0.149	0.39377	.	.	0.586965457386	0.58371	0.09648609195751481	0.09580	0.0407981969761	0.04379	0.318692564964	0.13224	T	.	.	.	-0.412622	0.01910	T	-0.371956	0.36659	T	0.0686368321742888	0.08458	T	0.441056	0.12198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24329	B	.	.	0.179326	0.05669	2.119	0.87836744561570046	0.17518	0.04057	0.09505	N	AEFBI	0.048011	0.08148	N	-0.414841284361555	0.24948	1.350793	-0.569519633626125	0.20289	1.092472	0.226836241665674	0.18420	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.87	2.39	0.28492	0.340000	0.19634	0.532000	0.19257	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.141000	0.19983	0.7088:0.0:0.1014:0.1898	3.985	0.09004	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.006098	0.003788	0.1429	4034.27	33	chr7	48278822	.	A	G	4034.27	.	AC=2;AF=0.143;AN=14;DP=311;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.33;SOR=0.77	GT:AD:DP:GQ:PL	1/1:0,133:133:99:4055,399,0	6	1	0	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	.	.	.	.	.	.	.	.	0.4	315.75	84	chr7	50368104	.	C	G	315.75	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-2.684;DP=728;ExcessHet=3.1439;FS=214.547;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=2.07;SOR=9.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:105,36:158:22:.:.:22,0,1661:.	1	0	4	2
chr7	73669585	73669585	G	A	exonic	VPS37D	.	nonsynonymous SNV	VPS37D:NM_001077621:exon2:c.G305A:p.R102Q	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0946166080682	0.0005	0.00139776	0.0015	0.0003	0	0	0.0014	0.0007	0	0.0044	0.0006856	106	154602	rs199826922	0.0006	0.0006	0.0005	0.0007	0.0040	0.0005	0.0005	0.0036	0.0035	0.0002	7.277e-05	0	0	0.0004	0.0010	0.0004	0.0005	0.0040	0.0004	0.0004	0.0003	0.0006	0.0031	0.0004	0.0003	0.0019	0.0015	0.0002	0	0.0003	0	0	0.0002	0	0.0006	0	0.0031	0.102	0.30235	T	0.031	0.53788	D	0.799	0.44910	P	0.441	0.45749	B	0.008654	0.30737	U	0.149808	1	0.81001	D	-0.61	0.02200	N	-0.96	0.75553	T	-1.19	0.30346	N	0.238	0.26837	-0.6698	0.61838	T	0.236	0.60258	T	10	0.006719023	0.00152	T	0.094617	0.76284	D	0.248	0.55615	.	.	0.165150595986	0.16160	0.29140335186427996	0.29053	1.03437999137	0.75531	0.509885787964	0.40206	T	0.03005	0.21393	T	-0.387995	0.02771	T	-0.330943	0.41364	T	0.0162758579397898	0.00399	T	0.763224	0.38939	T	0.08971955	0.20972	0.07278351	0.15741	0.08971955	0.20972	0.07278351	0.15740	-4.513	0.31058	T	.	.	0.078	0.06942	B	.	.	4.776343	0.77372	26.7	0.99609999726055509	0.74753	0.83417	0.42536	D	AEFDBI	0.339170	0.43640	N	0.0332306206420093	0.43373	2.63141	0.0575327559622097	0.42436	2.566771	0.99991337410989	0.45857	0.646311	0.45356	0	0.588066	0.40923	0	0.596874	0.31795	0	0.699875	0.68795	0	.	.	4.6	3.72	0.41857	2.785000	0.47470	9.820000	0.81798	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.1088:0.0:0.8912:0.0	8.360	0.31512	878	0.29785	Modifier of rudimentary, Modr|Modifier of rudimentary, Modr	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001524	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.003788	0.07143	240.83	11	chr7	73669585	.	G	A	240.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.861;DP=137;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.545;SOR=0.722	GT:AD:DP:GQ:PL	0/1:17,13:30:99:251,0,395	6	0	1	0
chr7	74338861	74338861	C	T	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_003388:exon3:c.C535T:p.P179S,CLIP2:NM_032421:exon3:c.C535T:p.P179S	.	430	1063	26	3	0	32	0.0148285	.	.	.	700213	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.143	.	0.0032	0.00459265	0.0046	0.0012	0.0027	0.0002	0.0003	0.0049	0.0108	0.0099	0.0043014	665	154602	rs61739991	0.0042	0.0042	0.0039	0.0046	0.0123	0.0041	0.0041	0.0100	0.0094	0.0005	0.0032	0.0044	0.0005	0.0004	0.0123	0.0041	0.0050	0.0102	0.0032	0.0032	0.0032	0.0031	0.0116	0.0029	0.0029	0.0092	0.0083	0.0010	0	0.0030	0.0049	0.0006	0.0003	0.0136	0.0045	0.0038	0.0116	0.07	0.35349	T	0.055	0.52060	T	0.007	0.14184	B	0.016	0.17743	B	0.000404	0.44736	D	0.150290	0.999984	0.54805	D	0.695	0.17993	N	-0.74	0.73205	T	-1.74	0.41239	N	0.344	0.40565	-0.8381	0.52773	T	0.210	0.56946	T	10	0.0058303773	0.00130	T	.	.	.	0.143	0.38195	.	.	0.434057395736	0.43027	0.6033479092388576	0.60265	0.7593053508	0.64165	0.618176221848	0.55472	T	0.100807	0.40697	T	-0.41675	0.01795	T	-0.363447	0.37653	T	0.0227129971421767	0.00990	T	0.79822	0.44736	T	0.066992566	0.14466	0.09611729	0.22824	0.066992566	0.14465	0.09611729	0.22824	-1.478	0.01783	T	.	.	0.073	0.10208	B	.;.;.	.;.;.	3.079231	0.41422	21.4	0.99525916157939909	0.69530	0.98437	0.82768	D	AEFDBCIJ	0.799496	0.72574	D	-0.276975217780625	0.30041	1.67133	-0.0949209573397272	0.35600	2.061546	0.999999999999923	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	4.702000	0.61504	4.757000	0.44693	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.391000	0.26581	0.0:1.0:0.0:0.0	16.914	0.86014	911	0.21964	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.012228	0.000000	0.000000	0.060345	0.003049	0.011364	0.07143	1975.44	54	chr7	74338861	.	C	T	1975.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.651;DP=483;ExcessHet=0;FS=1.838;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.536;SOR=0.556	GT:AD:DP:GQ:PL	0/1:93,86:179:99:1986,0,2243	6	0	1	0
chr7	80673392	80673392	-	TTCT	exonic	CD36	.	frameshift insertion	CD36:NM_001289908:exon9:c.1120_1121insTTCT:p.W376Sfs*4,CD36:NM_001371080:exon10:c.772_773insTTCT:p.W260Sfs*4,CD36:NM_001127444:exon11:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001289909:exon11:c.1057_1058insTTCT:p.W355Sfs*4,CD36:NM_001289911:exon11:c.1009_1010insTTCT:p.W339Sfs*4,CD36:NM_001127443:exon12:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_000072:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001001547:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001001548:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371074:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371075:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371077:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371078:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371079:exon13:c.1135_1136insTTCT:p.W381Sfs*4,CD36:NM_001371081:exon13:c.772_773insTTCT:p.W260Sfs*4	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1020402	Platelet-type_bleeding_disorder_10	MONDO:MONDO:0012031,MedGen:C1842090,OMIM:608404	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	8.703e-05	0	0	0	0	0.0019	0.0002135	33	154602	rs757142781	0.0002	0.0002	6.199e-05	0.0003	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0005	0	0.0002	0.0025	0.0001	0.0001	2.577e-05	0.0002	0.0035	8.683e-05	7.271e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0.0014	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	509.4	16	chr7	80673392	.	A	ATTCT	509.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.245;DP=156;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.217;SOR=0.818	GT:AD:DP:GQ:PL	0/1:34,15:49:99:520,0,1383	6	0	1	0
chr7	82955138	82955138	C	T	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon5:c.G5815A:p.E1939K,PCLO:NM_033026:exon5:c.G5815A:p.E1939K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00514894082584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.44	0.14771	T	0.037	0.20876	B	0.013	0.16460	B	.	.	.	.	0.992346	0.41620	D	.	.	.	2.31	0.16794	T	-1.71	0.40660	N	0.45	0.48780	-1.1185	0.02428	T	0.048	0.20632	T	9	0.16918057	0.31512	T	0.005149	0.13094	T	0.076	0.22200	0.438	0.49157	0.082315109003	0.07666	0.3023342481798755	0.30146	0.0392133884241	0.04181	0.418888568878	0.27684	T	.	.	.	-0.204774	0.20121	T	-0.53192	0.19096	T	0.426290482282639	0.29923	T	0.868613	0.57103	D	0.23217782	0.46001	0.2780058	0.53758	0.23217782	0.46001	0.2780058	0.53757	-4.507	0.30980	T	.	.	0.172	0.37764	B	.;.	.;.	3.450455	0.48049	22.6	0.98721758891667222	0.45215	0.68111	0.33679	D	AEFHCI	0.327377	0.42837	N	0.0637210915380149	0.44775	2.745526	0.236738383666264	0.51897	3.368527	0.904443024280057	0.26179	0.553676	0.25195	0	0.615948	0.52940	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.57	5.57	0.84021	3.740000	0.54802	7.715000	0.67011	0.599000	0.40250	0.948000	0.32982	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.540	0.95264	887	0.27948	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	36.93	36	chr7	82955138	.	C	T	36.93	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.876;DP=329;ExcessHet=0;FS=106.683;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=0.097;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,23:123:47:0|1:82955133_C_T:47,0,3474:82955133	6	0	1	0
chr7	84005436	84005436	T	C	exonic	SEMA3A	.	nonsynonymous SNV	SEMA3A:NM_006080:exon11:c.A1263G:p.I421M	.	.	.	.	.	.	.	.	.	.	.	2799642	SEMA3A-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.276	0.0335024169742	.	.	0.0002	0	0	0	0	0	0	0.0016	0.0001746	27	154602	rs758392343	7.526e-05	7.525e-05	3.131e-05	0.0001	0.0013	6.383e-05	5.939e-05	0.0011	0.0010	0	0	0	0	0	0	0	0	0.0013	6.573e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.003	0.68238	D	0.007	0.69154	D	0.992	0.64738	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	0.999981	0.54805	D	2.635	0.77114	M	2.73	0.11839	T	-1.56	0.37759	N	0.631	0.64478	-1.0486	0.14790	T	0.088	0.34133	T	10	0.36624053	0.53123	T	0.033502	0.55023	D	0.276	0.59253	0.609	0.74182	0.331200485591	0.32731	0.5657562075760906	0.56503	0.745565018863	0.63500	0.416620790958	0.27373	T	0.287913	0.66071	T	-0.315947	0.07235	T	-0.26199	0.48625	T	0.247165359863188	0.22746	T	0.921608	0.71541	D	0.6156025	0.73528	0.49050537	0.70524	0.6156025	0.73529	0.49050537	0.70524	-6.343	0.49063	T	0.3176794349296935	0.41576	0.111	0.21466	B	.;.	.;.	2.443220	0.31445	18.74	0.99651196065080327	0.77317	0.75813	0.37140	D	AEFBI	0.213243	0.33885	N	0.297355651653825	0.56014	3.765637	0.168945241357755	0.48154	3.035263	0.00173170649734895	0.08828	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.96	0.433	0.15747	0.189000	0.16845	0.628000	0.20199	0.609000	0.47794	0.993000	0.37899	1.000000	0.68203	0.749000	0.35751	0.1086:0.0:0.6217:0.2696	9.545	0.38438	766	0.49742	Sema domain|Sema domain|Sema domain;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	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1470.46	36	chr7	84005436	.	T	C	1470.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.155;DP=339;ExcessHet=0;FS=0.64;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=1.46;SOR=0.607	GT:AD:DP:GQ:PL	0/1:67,68:135:99:1481,0,1562	6	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	.	.	.	.	.	.	.	.	0.3333	622.35	123	chr7	93102964	.	C	G	622.35	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-5.662;DP=901;ExcessHet=3.1439;FS=135.92;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.134;SOR=9.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,23:141:99:.:.:158,0,4154:.	2	0	4	1
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	842.65	124	chr7	93102965	.	C	G	842.65	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.562;DP=900;ExcessHet=4.7409;FS=139.643;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.148;SOR=10.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,29:144:99:.:.:185,0,4153:.	2	0	5	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L,BET1:NM_005868:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	86.26	51	chr7	93996297	.	C	G	86.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.586;DP=373;ExcessHet=0.3476;FS=531.337;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=1.1;SOR=9.21	GT:AD:DP:GQ:PL	0/1:30,16:46:50:50,0,513	5	0	2	0
chr7	100166513	100166525	TGAACCTCATGTG	-	exonic	GAL3ST4	.	frameshift deletion	GAL3ST4:NM_024637:exon3:c.406_418del:p.H136Tfs*2	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.911e-05	0	0	0	0	1.518e-05	0	0.0004	3.84e-05	1	26028	rs759522715	3.766e-05	3.831e-05	2.316e-05	5.231e-05	0.0004	2.962e-05	2.658e-05	0.0003	0.0003	0	2.24e-05	0	0	0	0.0003	1.08e-05	3.314e-05	0.0004	2.627e-05	2.625e-05	2.571e-05	2.686e-05	0.0004	8.14e-06	5.14e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1144.23	34	chr7	100166512	.	TTGAACCTCATGTG	T	1144.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.571;DP=237;ExcessHet=0;FS=0.997;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=1.57;SOR=0.527	GT:AD:DP:GQ:PL	0/1:34,30:64:99:1154,0,1329	5	0	1	1
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2724.34	52	chr7	100175805	.	G	C	2724.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.575;DP=381;ExcessHet=11.5949;FS=744.254;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0.751;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,21:71:99:0|1:100175805_G_C:466,0,1977:100175805	0	0	6	1
chr7	100613631	100613631	G	C	exonic	MOSPD3	.	nonsynonymous SNV	MOSPD3:NM_001040099:exon3:c.G406C:p.G136R,MOSPD3:NM_023948:exon3:c.G436C:p.G146R,MOSPD3:NM_001040097:exon4:c.G436C:p.G146R,MOSPD3:NM_001040098:exon4:c.G436C:p.G146R,MOSPD3:NM_001363415:exon4:c.G436C:p.G146R,MOSPD3:NM_001363416:exon4:c.G436C:p.G146R	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00464972261195	0.0008	0.000798722	0.0013	0	0.0003	0	0.0002	0.0021	0.0011	0.0008	0.0012613	195	154602	rs137921044	0.0011	0.0011	0.0011	0.0012	0.0043	0.0011	0.0010	0.0030	0.0026	0.0002	0.0004	0.0003	0	0.0002	0.0043	0.0013	0.0012	0.0010	0.0008	0.0008	0.0007	0.0009	0.0015	0.0007	0.0006	0.0010	0.0009	0.0003	0	0.0015	0	0	9.422e-05	0.0068	0.0010	0.0043	0.0004	0.095	0.31235	T	0.204	0.27235	T	0.392	0.34646	B	0.265	0.39681	B	0.228109	0.15983	N	0.562918	0.995363	0.43707	D	0	0.06538	N	.	.	.	-1.96	0.45404	N	0.466	0.50237	-1.0458	0.15592	T	0.116	0.41097	T	9	0.009234905	0.00209	T	0.00465	0.11534	T	0.086	0.25016	0.128	0.03331	0.416202232284	0.41236	0.3452238182820563	0.34436	0.761597943512	0.64286	0.649458944798	0.59909	T	0.192928	0.54824	T	-0.335457	0.05709	T	-0.267867	0.48035	T	0.0182981109104174	0.00549	T	0.858514	0.54939	D	0.12973379	0.30292	0.14189322	0.33776	0.12973379	0.30292	0.14189322	0.33775	-3.185	0.14695	T	.	.	0.159	0.36908	B	.;.;.;.;.	.;.;.;.;.	3.095149	0.41689	21.4	0.9951831737054706	0.69100	0.81012	0.40509	D	AEFGBCI	0.731940	0.67885	D	0.0762909080252874	0.45358	2.793705	0.176137047585506	0.48542	3.068813	0.999999984665784	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.651492	0.60203	0	.	.	4.12	4.12	0.47504	2.644000	0.46279	9.207000	0.79216	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.0:1.0:0.0	14.691	0.68694	702	0.57624	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	797.27	37	chr7	100613631	.	G	C	797.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.918;DP=245;ExcessHet=0;FS=5.772;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.126;SOR=0.225	GT:AD:DP:GQ:PL	0/1:34,35:69:99:807,0,1037	5	0	1	1
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1021.11	81	chr7	100773851	.	A	*	1021.11	.	AC=5;AF=0.357;AN=14;DP=423;ExcessHet=0.0509;FS=2.771;MLEAC=5;MLEAF=0.357;MQ=60;QD=3.04;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,35:97:99:0|1:100773849_CCAT_C:1283,0,2498:100773849	3	1	3	0
chr7	100779666	100779666	C	T	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon35:c.C6538T:p.L2180F,ZAN:NM_173059:exon35:c.C6538T:p.L2180F	.	414	1084	24	0	0	24	0.0109489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.01989167839	0.0007	0.000998403	0.0031	0	0	0	0.0010	0.0036	0	0.0048	0.0013001	201	154602	rs368183208	0.0014	0.0014	0.0012	0.0015	0.0088	0.0013	0.0013	0.0068	0.0061	0.0002	0.0005	0.0003	0	0.0002	0.0088	0.0013	0.0017	0.0045	0.0009	0.0009	0.0007	0.0011	0.0025	0.0008	0.0007	0.0014	0.0011	0.0003	0	0.0016	0	0	9.413e-05	0.0136	0.0011	0.0038	0.0025	.	.	.	0.091	0.40426	T	0.907	0.50062	P	0.642	0.52168	P	0.650508	0.10517	N	0.773450	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.095	0.08646	-0.5645	0.66231	T	0.379	0.73640	T	9	0.049238354	0.04484	T	0.019892	0.42364	T	0.283	0.60100	.	.	0.0401082797425	0.02173	0.6052475545878986	0.60455	0.0746738777092	0.08380	0.309243559837	0.11792	T	0.126171	0.45237	T	-0.328308	0.06241	T	-0.243964	0.50411	T	0.102104824956605	0.12587	T	0.569643	0.20265	T	0.046199527	0.07691	0.06566402	0.13342	0.046199527	0.07691	0.06566402	0.13342	-7.077	0.57491	T	.	.	0.107	0.20235	B	.;.;.;.	.;.;.;.	1.834756	0.23309	15.97	0.99104606594449074	0.52572	0.28562	0.23588	N	AEFBI	0.068160	0.13433	N	-0.216513731733043	0.32457	1.830584	-0.335393843403519	0.26965	1.493027	8.95811513548799E-6	0.01202	0.06567	0.01388	0	0.059962	0.00310	0	0.044551	0.00207	1	0.075334	0.01956	0	.	.	4.17	2.29	0.27658	1.386000	0.34025	0.521000	0.19165	-0.175000	0.10903	0.892000	0.31242	0.087000	0.22477	0.020000	0.11549	0.2413:0.6457:0.0:0.113	4.804	0.12677	684	0.59539	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006566	0.005051	0.006793	0.014881	0.000000	0.000000	0.003067	0.007576	0.07143	1118.46	33	chr7	100779666	.	C	T	1118.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.513;DP=297;ExcessHet=0;FS=0.727;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.559;SOR=0.85	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1129,0,1245	6	0	1	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1756.07	430	chr7	100952945	.	C	*	1756.07	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.443;DP=3462;ExcessHet=14.2834;FS=0;MLEAC=5;MLEAF=0.357;MQ=58.69;MQRankSum=-8.839;QD=0.51;ReadPosRankSum=1.96;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:377,182:562:99:.:.:6507,0,15282:.	2	0	5	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34102.2	473	chr7	100960582	.	T	*	34102.2	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.756;DP=3411;ExcessHet=14.2834;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.875;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:336,130:601:99:0|1:100960582_T_A:6301,0,13347:100960582	6	0	1	0
chr7	101041444	101041444	C	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C10028A:p.T3343K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00124597688907	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs768595125	7.525e-06	7.524e-06	1.361e-06	1.375e-05	0.0002	4.04e-06	2.95e-06	5.396e-05	4.042e-05	0	0	0	0	0	0.0002	0	1.656e-05	0.0001	6.568e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	.	.	.	0.898	0.49442	P	0.341	0.42432	B	.	.	.	.	1	0.08975	N	2.255	0.64187	M	4.5	0.02032	T	-1.56	0.37759	N	0.193	0.21188	-0.8978	0.48214	T	0.005	0.01651	T	9	0.11797452	0.22294	T	0.001246	0.01658	T	0.035	0.08770	0.253	0.19223	0.0401082797425	0.02173	0.020442480964230205	0.01997	.	.	0.333601295948	0.15478	T	0.017151	0.14044	T	-0.36705	0.03746	T	-0.668164	0.07726	T	0.199246332532122	0.20374	T	0.342966	0.07460	T	0.0593483	0.12049	0.084685065	0.19499	0.0593483	0.12049	0.084685065	0.19498	-8.801	0.66407	D	.	.	0.234	0.46677	B	.	.	0.579356	0.09480	6.256	0.81170478507846777	0.13554	0.00676	0.02907	N	AEFDGBHCI	0.059117	0.11140	N	-0.863422053779345	0.11721	0.5672115	-1.0456762372413	0.08797	0.4343082	0.00707111635756284	0.11378	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.824	0.824	0.17956	-0.371000	0.07569	-0.564000	0.08462	0.311000	0.19140	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	7.506	0.26717	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	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	11251.4	175	chr7	101041444	.	C	A	11251.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.3;DP=1230;ExcessHet=0;FS=1.101;MLEAC=1;MLEAF=0.071;MQ=59.96;MQRankSum=0.099;QD=13.75;ReadPosRankSum=-1.127;SOR=0.695	GT:AD:DP:GQ:PL	0/1:390,428:818:99:11262,0,10278	6	0	1	0
chr7	103596538	103596538	C	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon25:c.G3457A:p.V1153I,RELN:NM_173054:exon25:c.G3457A:p.V1153I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	.	1931894	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.003261723198	7.7e-05	0.000399361	3.297e-05	9.61e-05	0	0.0003	0	0	0	0	3.88e-05	6	154602	rs116119591	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0003	1.238e-05	1.051e-05	0.0002	0.0001	0	0	0	0.0003	0	0.0002	1.079e-05	3.312e-05	0	3.94e-05	3.937e-05	3.855e-05	4.029e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.384e-05	2.407e-05	0	0	0	0.0006	0	0	2.94e-05	0	0	0.23	0.18889	T	0.176	0.29843	T	0.009	0.21875	B	0.005	0.16862	B	0.004999	0.33199	N	0.285437	0.508116	0.31670	N	1.78	0.46185	L	1.24	0.36691	T	-0.35	0.12847	N	0.24	0.27554	-1.0165	0.24852	T	0.069	0.28379	T	10	0.06616318	0.09034	T	0.003262	0.07207	T	0.020	0.03691	.	.	0.257342827899	0.25358	0.3734307665235957	0.37257	0.13413337241	0.15111	0.324957668781	0.14172	T	0.125979	0.45206	T	-0.498874	0.00580	T	-0.611644	0.11852	T	0.0369359065022299	0.03144	T	0.827517	0.49142	T	0.030380672	0.02690	0.037312515	0.03358	0.030380672	0.02690	0.037312515	0.03358	-6.723	0.51984	T	0.3125499133283775	0.41047	0.062	0.01215	B	.;.;.	.;.;.	1.274846	0.16738	12.73	0.98225722421226747	0.39343	0.47568	0.28012	N	AEFI	0.164558	0.29096	N	-0.538220463119223	0.20855	1.102505	-0.493866591177376	0.22322	1.211849	0.00764009263761959	0.11511	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.81	-0.263	0.12314	0.856000	0.27473	-1.554000	0.05183	0.599000	0.40250	0.416000	0.26298	0.000000	0.08366	0.943000	0.48514	0.0:0.6196:0.0:0.3804	10.605	0.44580	901	0.24189	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	1902.44	43	chr7	103596538	.	C	T	1902.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.73;DP=335;ExcessHet=0;FS=1.329;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=1.48;SOR=0.693	GT:AD:DP:GQ:PL	0/1:65,77:142:99:1913,0,1498	6	0	1	0
chr7	128879729	128879729	C	T	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon36:c.G4033A:p.G1345R	.	422	1096	4	0	0	4	0.00182149	.	.	.	3976357	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	5.451e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs752411105	4.221e-05	4.173e-05	2.4e-05	6.092e-05	0.0003	3.324e-05	3.043e-05	0.0002	0.0002	0	5.602e-05	0	0	0.0001	0	2.132e-05	5.173e-05	0.0003	2.626e-05	2.625e-05	0	5.371e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	0.449	0.13328	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.04274696	0.03053	T	.	.	.	.	.	.	.	0.286081765059	0.28222	0.5474555356019387	0.54671	.	.	0.359290242195	0.19282	T	0.007916	0.07293	T	-0.298932	0.08761	T	-0.377029	0.36068	T	.	.	.	0.693131	0.32570	T	0.05226004	0.09722	0.1342739	0.32178	0.05226004	0.09721	0.1342739	0.32177	-0.16	0.00411	T	.	.	0.067	0.03026	B	.;.;.	.;.;.	-0.957393	0.00834	0.028	0.78151884293315343	0.12177	0.05502	0.11389	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999930585768	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.108573	0.03145	0	0.058706	0.01089	0	0.10992	0.23557	5.1	-7.17	0.01359	-1.140000	0.03321	-4.662000	0.02045	-1.092000	0.01532	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0915:0.2471:0.091:0.5703	5.379	0.15483	566	0.70798	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D 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	.	.	.	.	.	.	.	.	0.07143	2574.44	34	chr7	128879729	.	C	T	2574.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.37;DP=411;ExcessHet=0;FS=0.487;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.249;SOR=0.753	GT:AD:DP:GQ:PL	0/1:120,108:228:99:2585,0,2779	6	0	1	0
chr7	129164525	129164525	G	C	exonic	TSPAN33	.	nonsynonymous SNV	TSPAN33:NM_178562:exon5:c.G415C:p.D139H	.	424	1089	8	1	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.778	0.0308378546423	.	0.000399361	0.0004	0	8.637e-05	0	0.0002	0.0002	0.0011	0.0019	0.0003493	54	154602	rs150641480	0.0003	0.0003	0.0002	0.0004	0.0021	0.0002	0.0002	0.0019	0.0018	0	2.236e-05	0	0	3.748e-05	0.0003	0.0002	0.0002	0.0021	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	0	0	0	0	0	0	0	0.0002	0	0.0027	.	.	.	0.003	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.048033	1	0.81001	D	3.12	0.87914	M	.	.	.	.	.	.	0.878	0.87590	0.791	0.94294	D	0.818	0.93858	D	10	0.30660558	0.48169	T	0.030838	0.53060	D	.	.	.	.	0.158396225186	0.15383	0.8356725455120984	0.83527	.	.	0.784248232841	0.79569	T	0.69279	0.91083	D	-0.0781614	0.40014	T	0.108783	0.77491	D	0.320822397349022	0.25855	T	0.973003	0.90263	D	0.90156704	0.91524	0.8432951	0.91057	0.90156704	0.91525	0.8432951	0.91057	-11.433	0.81979	D	.	.	0.904	0.83029	P	.	.	5.173527	0.86723	29.0	0.99674257530905008	0.78782	0.98135	0.79898	D	AEFBCI	0.908842	0.86467	D	0.985730844452259	0.95289	13.48022	0.950312720604297	0.97414	16.08797	0.999999999876263	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.779548	0.98927	0	0.620976	0.48614	0	.	.	5.75	5.75	0.90390	9.148000	0.93824	9.865000	0.82085	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.0:1.0:0.0	17.446	0.87471	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1926.44	36	chr7	129164525	.	G	C	1926.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.701;DP=357;ExcessHet=0;FS=0.645;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=2.82;SOR=0.593	GT:AD:DP:GQ:PL	0/1:55,83:138:99:1937,0,1258	6	0	1	0
chr7	140567118	140567118	C	T	exonic	DENND2A	.	nonsynonymous SNV	DENND2A:NM_001318052:exon8:c.G1747A:p.V583M,DENND2A:NM_001318053:exon9:c.G1747A:p.V583M,DENND2A:NM_001362678:exon9:c.G1747A:p.V583M,DENND2A:NM_015689:exon9:c.G1747A:p.V583M	.	.	.	.	.	.	.	.	.	.	.	3236884	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.00723957101123	0.0002	.	7.526e-05	0	0.0003	0.0002	0	7.027e-05	0	0	6.47e-05	10	154602	rs374336112	9.088e-05	9.166e-05	9.849e-05	8.316e-05	0.0002	7.806e-05	7.346e-05	0.0001	7.924e-05	0	0.0001	0	0.0002	1.893e-05	0	0.0001	4.994e-05	4.744e-05	7.232e-05	7.223e-05	7.712e-05	6.729e-05	0.0003	3.973e-05	3.129e-05	8.892e-05	5.396e-05	0	0	0.0003	0	0	0	0	0.0001	0	0	0.069	0.37536	T	0.098	0.39645	T	0.216	0.66517	B	0.418	0.59497	B	0.306581	0.14506	N	0.672465	0.599165	0.30955	N	1.525	0.38595	L	3.54	0.10771	T	-1.23	0.32185	N	0.317	0.40864	-1.1293	0.01816	T	0.040	0.17234	T	10	0.23405463	0.40437	T	0.00724	0.19198	T	0.086	0.25016	.	.	0.260580752073	0.25663	0.16727437323684283	0.16647	0.513973921852	0.49362	0.606631875038	0.53840	T	0.016563	0.13667	T	-0.371025	0.03542	T	-0.46021	0.26575	T	0.131620393463703	0.15531	T	0.948505	0.80194	D	0.06721271	0.14533	0.08856019	0.20656	0.06721271	0.14532	0.08856019	0.20655	-8.91	0.67116	D	.	.	0.117	0.23709	B	.;.;.;.	.;.;.;.	4.345670	0.66707	25.0	0.99817327450407467	0.90061	0.80531	0.40144	D	AEFDBI	0.245246	0.36622	N	0.279707136578199	0.55120	3.676409	0.367261067875506	0.59553	4.134277	0.999999255980214	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.86	4.95	0.64894	1.755000	0.38008	5.912000	0.51036	0.581000	0.30040	0.927000	0.32177	1.000000	0.68203	0.916000	0.45140	0.0:0.7928:0.1318:0.0754	10.919	0.46367	657	0.62240	Tripartite DENN domain|uDENN domain;Tripartite DENN domain|uDENN domain;Tripartite DENN domain|uDENN 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	1821.44	37	chr7	140567118	.	C	T	1821.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.386;DP=370;ExcessHet=0;FS=1.179;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.615;SOR=0.796	GT:AD:DP:GQ:PL	0/1:93,82:175:99:1832,0,2123	6	0	1	0
chr7	142080827	142080827	G	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon50:c.G5884A:p.V1962I	.	449	1053	20	0	0	20	0.00940734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.0419329	0.0191	0.0086	0.0013	0.0637	0	0.0014	0.0127	0.0926	0.0165522	2559	154602	rs117482862	0.0082	0.0081	0.0059	0.0105	0.0851	0.0080	0.0080	0.0834	0.0827	0.0082	0.0012	0.0098	0.0623	1.941e-05	0.0069	0.0005	0.0119	0.0851	0.0087	0.0088	0.0072	0.0102	0.0981	0.0083	0.0081	0.0906	0.0877	0.0081	0	0.0031	0.0114	0.0677	0	0	0.0009	0.0050	0.0981	.	.	.	0.587	0.08302	T	.	.	.	.	.	.	.	.	.	.	0.994818	0.81001	P	.	.	.	.	.	.	.	.	.	0.065	0.03726	-0.9829	0.34328	T	0.021	0.08732	T	4	0.0026019514	0.00040	T	.	.	.	0.018	0.03083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.527307	0.00398	T	-0.483103	0.24118	T	0.0256323700263927	0.01357	T	0.853415	0.53896	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03231	B	.	.	1.588516	0.20318	14.69	0.66264928345314078	0.08008	0.91791	0.54270	D	AEFDGI	0.291667	0.40274	N	-0.116246398793108	0.36684	2.123831	-0.125400422807833	0.34370	1.976225	0.0231090643267659	0.13482	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.67	2.87	0.32523	2.151000	0.41888	.	.	0.672000	0.70159	0.996000	0.39380	0.049000	0.21787	0.512000	0.29290	0.1689:0.0:0.8311:0.0	9.987	0.41019	.	.	Galactose mutarotase, N-terminal barrel	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2222.53	33	chr7	142080827	.	G	A	2222.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.425;DP=370;ExcessHet=0;FS=2.455;MLEAC=1;MLEAF=0.071;MQ=59.92;MQRankSum=-1.771;QD=11.34;ReadPosRankSum=-0.979;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,96:196:99:0|1:142080827_G_A:2233,0,3851:142080827	6	0	1	0
chr7	142082146	142082146	C	T	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon51:c.C6107T:p.T2036M	.	448	1054	20	0	0	20	0.0093985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	.	.	0.038139	0.0181	0.0006	0.0012	0.0627	0	0.0013	0.0116	0.0905	0.0155755	2408	154602	rs146424332	0.0078	0.0077	0.0056	0.0101	0.0837	0.0077	0.0076	0.0821	0.0814	0.0005	0.0006	0.0098	0.0621	1.949e-05	0.0041	0.0005	0.0110	0.0837	0.0063	0.0065	0.0047	0.0079	0.0929	0.0059	0.0058	0.0856	0.0827	0.0007	0	0.0023	0.0105	0.0685	0	0	0.0009	0.0035	0.0929	.	.	.	0.067	0.44302	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.43508	P	.	.	.	.	.	.	.	.	.	0.177	0.19055	-0.5535	0.66653	T	0.061	0.25528	T	4	0.00842607	0.00191	T	.	.	.	0.121	0.33580	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.608673	0.00129	T	-0.581149	0.14441	T	0.00804062219955659	0.00095	T	0.663534	0.27241	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.19879	B	.	.	0.675745	0.10444	7.162	0.93531141229131842	0.23353	0.12682	0.17416	N	AEFGI	0.096322	0.19447	N	-0.674401694949678	0.16753	0.8563336	-0.748805548267265	0.15752	0.8299869	0.00127193875816042	0.08400	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.2	2.23	0.27189	-1.104000	0.03436	.	.	-1.757000	0.00681	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4823:0.5177:0.0	15.912	0.79263	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2924.44	35	chr7	142082146	.	C	T	2924.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.16;DP=458;ExcessHet=0;FS=1.744;MLEAC=1;MLEAF=0.071;MQ=55.86;MQRankSum=-5.127;QD=14.13;ReadPosRankSum=3.51;SOR=0.55	GT:AD:DP:GQ:PL	0/1:86,121:207:99:2935,0,1810	6	0	1	0
chr7	142082570	142082570	G	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon52:c.G6267A:p.M2089I	.	449	1053	20	0	0	20	0.00940734	0.9497	0.81	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	.	.	0.0421326	0.0339	0.0130	0.0035	0.1053	0	0.0028	0.0094	0.1007	0.0145147	2244	154602	rs149265215	0.0079	0.0080	0.0057	0.0102	0.0843	0.0078	0.0077	0.0827	0.0820	0.0080	0.0011	0.0099	0.0618	2.204e-05	0.0068	0.0005	0.0118	0.0843	0.0085	0.0088	0.0071	0.0099	0.0956	0.0081	0.0079	0.0882	0.0853	0.0079	0	0.0029	0.0114	0.0673	0	0	0.0009	0.0040	0.0956	.	.	.	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	0.00484165	0.81001	P	.	.	.	.	.	.	.	.	.	0.291	0.32921	-0.5734	0.65879	T	0.078	0.31224	T	4	0.0029990375	0.00049	T	.	.	.	0.308	0.62947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.253381	0.13687	T	-0.130485	0.60930	T	0.0204835161029945	0.00748	T	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	0.80734	P	.	.	4.631355	0.73641	26.0	0.99160228913287085	0.54071	0.98609	0.84658	D	AEFI	0.891207	0.82696	D	0.481528758558236	0.66012	4.895369	0.539012016460714	0.70635	5.534473	0.999999662943052	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.83	4.83	0.61880	7.842000	0.85116	.	.	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	17.053	0.86398	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	5160.44	36	chr7	142082570	.	G	A	5160.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.07;DP=731;ExcessHet=0;FS=4.041;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.818;SOR=1.014	GT:AD:DP:GQ:PL	0/1:214,205:419:99:5171,0,5094	6	0	1	0
chr7	142752484	142752484	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon4:c.A508G:p.K170E	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	508821	Hereditary_pancreatitis|not_provided|not_specified	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.284	.	.	0.00159744	0.5000	0.5	0.5	0.5	0.5	0.5000	0.5	0.5	0.0485631	1264	26028	rs201550522	0.0007	0.0007	0.0004	0.0010	0.0109	0.0007	0.0006	0.0103	0.0101	8.962e-05	2.236e-05	0	2.519e-05	1.872e-05	0.0007	4.497e-06	0.0008	0.0109	0.0003	0.0003	0.0002	0.0005	0.0089	0.0002	0.0002	0.0068	0.0061	7.214e-05	0	0.0002	0	0	0	0	0	0	0.0089	0.387	0.13131	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.582927	0.05546	N	1.175380	1	0.08975	N	-0.42	0.02904	N	-2.37	0.88220	D	0.93	0.01551	N	0.029	0.01498	-1.0812	0.07118	T	0.000	0.00011	T	10	0.02430904	0.00664	T	.	.	.	0.284	0.60219	.	.	.	.	0.5059237206426678	0.50514	0.22924456839	0.25486	0.274791926146	0.06776	T	0.30598	0.67821	T	-0.118317	0.33399	T	-0.40773	0.32487	T	0.0125569156148535	0.00208	T	.	.	.	0.16364932	0.36520	0.19005057	0.42386	0.22228056	0.44823	0.17333195	0.39651	-1.627	0.02045	T	.	.	0.099	0.18910	B	.;.;.;.	.;.;.;.	-2.279129	0.00053	0.001	0.11901653757417319	0.00192	0.00183	0.01069	N	AEFBI	0.173148	0.30021	N	-2.14012544445484	0.00104	0.004467639	-2.21358174570785	0.00104	0.00458712	0.176891010153521	0.17816	0.446893	0.09132	0	0.457222	0.06608	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	-6.56	0.01680	-3.971000	0.00364	.	.	-4.951000	0.00017	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.163:0.5271:0.2031:0.1068	5.581	0.16531	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	0.495468	0.500000	0.500000	0.482456	0.500000	0.500000	0.503049	0.496212	0.07143	2606.44	130	chr7	142752484	.	A	G	2606.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.234;DP=889;ExcessHet=0;FS=2.61;MLEAC=1;MLEAF=0.071;MQ=59.94;MQRankSum=-1.507;QD=14.56;ReadPosRankSum=0.532;SOR=0.751	GT:AD:DP:GQ:PL	0/1:77,102:179:99:2617,0,1852	6	0	1	0
chr7	143571909	143571909	G	T	exonic	CTAGE15	.	nonsynonymous SNV	CTAGE15:NM_001008747:exon1:c.G92T:p.R31I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00182420739446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.53072	D	0.9	0.49598	P	0.578	0.50118	P	.	.	.	.	.	.	.	2.68	0.78455	M	1.27	0.36146	T	.	.	.	0.306	0.34552	.	.	.	.	.	.	.	0.27959868	0.45532	T	0.001824	0.03141	T	.	.	.	.	0.043077524339	0.03247	0.34746457215475346	0.34660	.	.	0.502695560455	0.39203	T	0.207791	0.56754	T	-0.0285621	0.47626	T	-0.278804	0.46927	T	.	.	.	.	.	.	0.12678652	0.29686	0.13734	0.32831	0.12678652	0.29686	0.13734	0.32830	-12.259	0.86089	D	.	.	0.162	0.35788	B	.	.	2.133118	0.27159	17.37	0.46284182752233149	0.03696	0.13065	0.17643	N	AEFI	0.033341	0.03935	N	.	.	.	.	.	.	1.56655739909064E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.101684	0.03063	0	.	.	0.732	0.732	0.17433	1.355000	0.33671	1.105000	0.24105	0.245000	0.18292	1.000000	0.71638	0.402000	0.24716	0.011000	0.09372	0.0:0.0:1.0:0.0	4.79	0.12613	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	.	.	.	.	.	.	.	.	0.08333	113.4	35	chr7	143571909	.	G	T	113.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.304;DP=319;ExcessHet=0;FS=69.396;MLEAC=1;MLEAF=0.083;MQ=33.58;MQRankSum=-1.583;QD=0.7;ReadPosRankSum=1.37;SOR=6.666	GT:AD:DP:GQ:PL	0/1:134,27:161:99:123,0,2753	5	0	1	1
chr7	144050837	144050837	G	T	exonic	OR2A5	.	nonsynonymous SNV	OR2A5:NM_012365:exon2:c.G436T:p.V146F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00571397883251	.	.	.	.	.	.	.	.	.	.	.	.	.	rs528465845	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.19090	T	0.168	0.30631	T	0.014	0.16867	B	0.033	0.22329	B	0.152838	0.17910	U	0.298852	1	0.08975	N	0.775	0.19437	N	1.12	0.38718	T	-2.44	0.53420	N	0.299	0.33796	-1.0242	0.22344	T	0.079	0.31466	T	10	0.06884843	0.09794	T	0.005714	0.14802	T	0.060	0.17295	0.248	0.18447	0.258283824007	0.25425	0.26981532739821945	0.26894	0.207598512814	0.23217	0.32103061676	0.13578	T	0.015215	0.12804	T	-0.160943	0.26615	T	-0.46896	0.25627	T	0.05297776684165	0.06016	T	.	.	.	0.14953256	0.34085	0.14988676	0.35372	0.14953256	0.34085	0.14988676	0.35371	-5.151	0.38439	T	.	.	0.105	0.19518	B	.;.	.;.	0.735968	0.11051	7.706	0.95283291249545587	0.26580	0.13705	0.18006	N	AEFBI	0.118028	0.23096	N	-0.859434946008969	0.11819	0.5724668	-0.896046975952087	0.12187	0.6254433	1.25488238835499E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.25	0.841	0.18052	-0.677000	0.05315	-2.518000	0.03657	0.661000	0.55757	0.000000	0.06391	0.000000	0.08366	0.075000	0.16954	0.4607:0.0:0.5393:0.0	7.388	0.26069	906	0.23090	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	.	.	.	.	.	.	.	.	0.07143	2489.44	91	chr7	144050837	.	G	T	2489.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.36;DP=789;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.4;SOR=0.712	GT:AD:DP:GQ:PL	0/1:89,90:179:99:2500,0,2372	6	0	1	0
chr7	144232482	144232482	C	T	exonic	OR2A42	.	nonsynonymous SNV	OR2A42:NM_001001802:exon1:c.G362A:p.R121H	.	577	943	1	1	0	3	0.00158814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	.	.	0.00259585	0.0038	0.0224	0.0002	0.0252	0	9.571e-05	0	0	0.0004995	13	26028	rs535979486	0.0009	0.0008	0.0011	0.0007	0.0106	0.0008	0.0008	0.0092	0.0086	0.0106	0.0002	0	0.0084	0	0	3.375e-05	0.0013	3.365e-05	0.0026	0.0040	0.0026	0.0026	0.0110	0.0024	0.0023	0.0096	0.0091	0.0109	0	0.0002	0	0.0110	0	0	2.263e-05	0	0	0.011	0.55530	D	0.0	0.92824	D	.	.	.	.	.	.	0.011578	0.29481	U	0.000000	1	0.81001	D	.	.	.	-1.1	0.77336	T	-4.79	0.80595	D	0.247	0.27910	-0.6822	0.61271	T	0.252	0.62154	T	9	0.011543274	0.00252	T	.	.	.	0.227	0.52620	.	.	0.68108255196	0.67837	0.5858967586097127	0.58519	.	.	0.184524297714	0.00143	T	.	.	.	-0.233193	0.16228	T	-0.288028	0.45978	T	0.0711297851734721	0.08808	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.780226	0.36519	20.3	0.97440708358712202	0.33977	0.35037	0.25208	N	AEFGI	.	.	.	-0.728709992920463	0.15217	0.7650199	-0.903627363936074	0.12008	0.6152374	7.11836943927018E-5	0.04552	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.77	0.767	0.17627	3.359000	0.52012	-0.588000	0.08339	0.407000	0.20612	0.067000	0.21986	0.000000	0.08366	0.117000	0.19042	0.2009:0.6036:0.1955:0.0	6.711	0.22466	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	.	.	.	.	.	.	.	.	0.1	2015.2	39	chr7	144232482	.	C	T	2015.2	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.059;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=38.36;MQRankSum=0.251;QD=14.82;ReadPosRankSum=-1.021;SOR=0.666	GT:AD:DP:GQ:PL	0/1:52,84:136:99:2024,0,1143	4	0	1	2
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4286	4870.49	184	chr7	152229940	.	A	G	4870.49	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.631;DP=1690;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=44.63;MQRankSum=0.809;QD=2.95;ReadPosRankSum=0.174;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:270,57:327:99:.:.:500,0,9391:.	1	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	0.2143	199.27	46	chr7	152235831	.	C	G	199.27	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.021;DP=450;ExcessHet=1.1394;FS=5.166;MLEAC=2;MLEAF=0.143;MQ=50.69;MQRankSum=-2.132;QD=0.97;ReadPosRankSum=-2.276;SOR=1.27	GT:AD:DP:GQ:PL	0/1:79,9:88:4:4,0,3023	4	0	3	0
chr7	152265209	152265209	G	A	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon8:c.C1013T:p.S338L	.	421	1031	70	0	0	70	0.032833	0.0269	0.306	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	.	.	0.0013	0.0050	0.0003	0.0002	0.0002	0.0009	0	0.0024	3.84e-05	1	26028	rs763762478	2.038e-05	0.0079	2.235e-05	1.838e-05	9.681e-05	1.43e-05	1.236e-05	3.144e-05	2.135e-05	9.681e-05	6.956e-05	7.854e-05	0	1.934e-05	0	1.103e-05	3.412e-05	7.373e-05	2.013e-05	0.0049	1.309e-05	2.752e-05	0.0002	5.35e-06	2.48e-06	.	.	2.503e-05	0	0	0	0	0	0	1.49e-05	0	0.0002	0.165	0.23271	T	.	.	.	0.999	0.77913	D	0.978	0.74104	D	0.002566	0.36316	U	0.000000	0.999109	0.46078	D	1.375	0.34280	L	-5.19	0.98838	D	-2.15	0.49846	N	0.541	0.64733	0.975	0.96781	D	0.935	0.97856	D	10	0.120939314	0.22917	T	0.135747	0.81821	D	0.505	0.78662	.	.	0.780251043478	0.77822	0.8104037300995125	0.80995	2.68827321764	0.98538	0.709780871868	0.68562	T	0.093356	0.39194	T	0.194455	0.73376	D	0.0415453	0.73029	D	0.563259899616241	0.34978	D	0.915408	0.69775	D	0.1218603	0.28647	0.12725215	0.30636	0.1218603	0.28646	0.12725215	0.30635	-8.009	0.61132	D	.	.	0.295	0.52574	B	.;.	.;.	5.197887	0.87191	29.2	0.99103779157527894	0.52546	0.99285	0.93953	D	AEFDGI	0.879208	0.80500	D	0.330948350371497	0.57744	3.942901	0.306496970797665	0.55922	3.754958	0.999408517909567	0.39524	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.74596	0.99574	0	.	.	4.65	4.65	0.57626	7.653000	0.82698	11.796000	0.96513	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	17.916	0.88868	952	0.10565	.;.	.	.	.	.	.	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	0.004232	0.016393	0.002755	0.000000	0.000000	0.000000	0.011278	0.000000	0.07143	291.46	122	chr7	152265209	.	G	A	291.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.09;DP=917;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=45.66;MQRankSum=-3.418;QD=1.24;ReadPosRankSum=-3.144;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,24:235:99:0|1:152265209_G_A:302,0,8656:152265209	6	0	1	0
chr7	152265211	152265211	T	C	splicing	KMT2C	NM_170606:exon8:c.1013-2A>G	.	.	.	421	1032	69	0	0	69	0.0323488	1.0000	0.856	YES	1292103	Kleefstra_syndrome_2|not_provided	MONDO:MONDO:0054701,MedGen:C4540395,OMIM:617768|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0042	0.0003	0.0002	0.0002	0.0008	0	0.0023	3.84e-05	1	26028	rs751158858	1.754e-05	0.0078	1.674e-05	1.836e-05	7.365e-05	1.204e-05	1.018e-05	3.141e-05	2.134e-05	6.35e-05	4.622e-05	7.843e-05	0	0	0	1.011e-05	3.405e-05	7.365e-05	2.673e-05	0.0048	1.305e-05	4.11e-05	0.0004	8.25e-06	5.21e-06	7.479e-05	3.099e-05	2.48e-05	0	0	0	0	0	0	1.488e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101255	0.64428	D	-0.0923307	0.63986	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.617057	0.95490	35	0.97620013067163336	0.34960	0.96606	0.69985	D	AEDGI	.	.	.	0.831717572276499	0.88043	9.432911	0.606287934712574	0.75395	6.30307	0.999997611856489	0.74766	0.099367	0.02607	0	0.104858	0.03167	0	0.066767	0.01867	0	0.074238	0.01845	1	0.850816	0.51753	4.65	4.65	0.57626	7.580000	0.81812	7.866000	0.71703	0.603000	0.45986	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	14.395	0.66573	952	0.10565	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	291.46	122	chr7	152265211	.	T	C	291.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.06;DP=901;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=45.52;MQRankSum=-3.418;QD=1.24;ReadPosRankSum=-3.051;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,24:235:99:0|1:152265209_G_A:302,0,8656:152265209	6	0	1	0
chr7	158316846	158316846	C	T	exonic	PTPRN2	.	nonsynonymous SNV	PTPRN2:NM_130842:exon2:c.G199A:p.V67M,PTPRN2:NM_001308268:exon3:c.G319A:p.V107M,PTPRN2:NM_002847:exon3:c.G250A:p.V84M,PTPRN2:NM_130843:exon3:c.G250A:p.V84M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0164326573398	.	.	0.0001	0	0	0	0	1.592e-05	0	0.0009	9.06e-05	14	154602	rs764331168	4.738e-05	4.994e-05	2.87e-05	6.623e-05	0.0006	3.808e-05	3.489e-05	0.0005	0.0004	0	2.249e-05	0	0	0	0	1.349e-05	1.658e-05	0.0006	2.625e-05	2.624e-05	1.284e-05	4.025e-05	0.0004	8.13e-06	5.14e-06	7.282e-05	3.026e-05	4.808e-05	0	0	0	0	0	0	0	0	0.0004	0.159	0.23813	T	0.106	0.38016	T	0.567	0.38485	P	0.177	0.35687	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	4.09	0.02973	T	-0.71	0.21644	N	0.35	0.39153	-0.8952	0.48465	T	0.005	0.01725	T	9	0.043560833	0.03219	T	0.016433	0.37682	T	0.028	0.06331	0.281	0.23642	0.173771789658	0.16945	0.1187203084447316	0.11799	0.232828200155	0.25818	0.330910921097	0.15072	T	0.03346	0.22922	T	-0.576555	0.00202	T	-0.708474	0.05374	T	0.0214482321124857	0.00849	T	0.741926	0.37241	T	0.02905794	0.02339	0.040508702	0.04392	0.02905794	0.02339	0.040508702	0.04392	-5.811	0.46246	T	.	.	0.161	0.37464	B	.;.;.	.;.;.	0.622495	0.09910	6.668	0.97339778389033338	0.33466	0.02905	0.07703	N	AEFDBI	0.067332	0.13231	N	-0.975138066539905	0.09137	0.4311899	-1.01104911297676	0.09541	0.4753071	0.965203374760347	0.28815	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.88	0.945	0.18667	0.010000	0.13140	-0.769000	0.07503	-0.183000	0.09960	0.006000	0.17386	0.000000	0.08366	0.001000	0.02609	0.0:0.5712:0.1516:0.2771	5.801	0.17677	906	0.23090	.;.;RESP18 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	3550.42	34	chr7	158316846	.	C	T	3550.42	.	AC=2;AF=0.143;AN=14;DP=297;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.87;SOR=1.046	GT:AD:DP:GQ:PL	1/1:0,123:123:99:3571,368,0	6	1	0	0
chr8	2085363	2085363	G	C	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon14:c.G1617C:p.K539N	.	436	1067	18	1	0	20	0.00928505	.	.	.	3216596	MYOM2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.080	0.0241659818376	0.0022	0.00179712	0.0028	0.0002	0.0020	0	0.0019	0.0036	0.0034	0.0035	0.0027037	418	154602	rs137923713	0.0029	0.0029	0.0029	0.0029	0.0132	0.0029	0.0028	0.0108	0.0099	0.0007	0.0024	3.826e-05	0	0.0030	0.0132	0.0031	0.0033	0.0037	0.0025	0.0025	0.0024	0.0025	0.0037	0.0023	0.0022	0.0031	0.0030	0.0006	0.0088	0.0027	0.0003	0.0004	0.0029	0.0136	0.0035	0.0043	0.0037	0.032	0.44694	D	0.112	0.37037	T	.	.	.	.	.	.	0.005828	0.32475	N	0.294315	0.968646	0.81001	D	.	.	.	0.63	0.53088	T	-1.33	0.33197	N	0.584	0.60495	-1.0105	0.26760	T	0.086	0.33298	T	10	0.012243539	0.00264	T	0.024166	0.47155	T	0.080	0.23350	0.474	0.55020	0.712770418609	0.71025	0.5107287513007086	0.50994	0.0278151165772	0.02851	0.432543307543	0.29556	T	.	.	.	-0.535084	0.00358	T	-0.54286	0.18016	T	0.0275743834854516	0.01626	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.65252	A	.	.	2.325149	0.29777	18.23	0.99417749304955194	0.63597	0.89452	0.49926	D	AEFDBI	0.426587	0.49088	N	-0.279700014692529	0.29933	1.66441	-0.15768430371848	0.33113	1.890835	0.969717760086207	0.29150	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.75	3.95	0.44952	1.285000	0.32866	3.765000	0.39732	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.2764:0.0:0.7236:0.0	9.066	0.35628	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	0	0	1	0	0.017120	0.010101	0.021739	0.023392	0.050000	0.008621	0.009146	0.011364	0.07143	2186.46	36	chr8	2085363	.	G	C	2186.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.987;DP=380;ExcessHet=0;FS=1.094;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.37;SOR=0.598	GT:AD:DP:GQ:PL	0/1:100,101:201:99:2197,0,2312	6	0	1	0
chr8	6811979	6811979	T	C	exonic	XKR5	.	nonsynonymous SNV	XKR5:NM_207411:exon7:c.A1280G:p.N427S,XKR5:NM_001289973:exon8:c.A791G:p.N264S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0022	0	0	0	0	0	0	0.0055	0.0003428	53	154602	rs575657939	0.0003	0.0003	0.0001	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	3.165e-05	0	0	0	0	0.0005	2.781e-06	0.0002	0.0048	0.0002	0.0002	0.0002	0.0003	0.0075	0.0002	0.0002	0.0055	0.0049	0	0	0	0	0	0	0	0	0	0.0075	.	.	.	0.227	0.25362	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.018	0.00252	.	.	.	.	.	.	.	0.0028327107	0.00045	T	.	.	.	.	.	.	.	0.148003135375	0.14442	0.07717370339444707	0.07653	.	.	0.278473138809	0.07281	T	0.008919	0.08152	T	-0.526785	0.00401	T	-0.528514	0.19434	T	.	.	.	0.267373	0.04426	T	0.047468577	0.08117	0.060316477	0.11466	0.047468577	0.08117	0.060316477	0.11465	-1.096	0.01112	T	.	.	0.070	0.03372	B	.	.	-0.124833	0.03496	0.657	0.61691439050081676	0.06772	0.01257	0.04415	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999965194259041	0.48965	0.156479	0.03450	1	0.166317	0.03975	0	0.114383	0.03170	0	0.075334	0.01956	0	0.0771818	0.17806	5.88	2.17	0.26736	0.766000	0.26225	-0.485000	0.08896	-0.114000	0.14653	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.1045:0.3288:0.5667	5.611	0.16684	994	0.00715	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	4844.22	43	chr8	6811979	.	T	C	4844.22	.	AC=2;AF=0.143;AN=14;DP=346;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.73;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,148:148:99:4865,444,0	6	1	0	0
chr8	10532982	10532982	G	T	exonic	PRSS55	.	nonsynonymous SNV	PRSS55:NM_001197020:exon4:c.G675T:p.M225I,PRSS55:NM_198464:exon4:c.G675T:p.M225I	.	.	.	.	.	.	.	.	.	.	.	2290731	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.247	0.0515346890686	0.0010	.	0.0005	0.0002	0	0	0.0008	0.0009	0.0011	0	0.0006468	100	154602	rs139167926	0.0012	0.0012	0.0013	0.0012	0.0015	0.0012	0.0012	0.0015	0.0015	0.0002	0.0002	7.652e-05	0	0.0007	0	0.0015	0.0006	6.956e-05	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0010	0.0009	0.0004	0	0.0001	0	0	0.0006	0	0.0012	0.0005	0	0.238	0.17821	T	0.42	0.14116	T	0.004	0.12183	B	0.002	0.06944	B	0.020523	0.01534	N	3.405570	1	0.08975	N	0.12	0.08593	N	-2.39	0.88377	D	-1.07	0.27876	N	0.11	0.10769	-0.6099	0.64407	T	0.429	0.77160	T	10	0.022681773	0.00573	T	0.051535	0.64701	D	0.247	0.55478	0.589	0.71749	0.322230723748	0.31824	0.4720501294298216	0.47124	0.00117461993781	0.00099	0.25502038002	0.04315	T	0.108116	0.42088	T	-0.462074	0.00954	T	-0.442062	0.28579	T	0.00406579005077457	0.00043	T	0.0516948	0.02461	T	0.093868084	0.22058	0.10840142	0.26113	0.093868084	0.22057	0.10840142	0.26112	-3.274	0.13404	T	.	.	0.113	0.38080	B	.;.	.;.	-0.255905	0.02818	0.389	0.61095129873304654	0.06624	0.04088	0.09549	N	AEFDBI	0.067603	0.13297	N	-1.30927852537817	0.03568	0.1596236	-1.33185569569229	0.04024	0.188965	0.0109132408987701	0.12102	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.27	-2.64	0.05757	-0.049000	0.11879	-0.119000	0.11742	-0.242000	0.07441	0.008000	0.17931	0.000000	0.08366	0.150000	0.20306	0.4638:0.1204:0.4158:0.0	6.758	0.22715	889	0.27310	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	.	.	.	.	.	.	.	.	0.1429	3412.63	34	chr8	10532982	.	G	T	3412.63	.	AC=2;AF=0.143;AN=14;DP=312;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.68;SOR=0.71	GT:AD:DP:GQ:PL	1/1:0,119:119:99:3433,357,0	6	1	0	0
chr8	11761669	11761669	G	A	exonic	C8orf49	.	nonsynonymous SNV	C8orf49:NM_001031839:exon1:c.G256A:p.A86T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00219649	0.0047	0	0	0	0	0	0	0.0076	0.0004722	73	154602	rs541295477	0.0016	0.0008	0.0009	0.0022	0.0074	0.0015	0.0014	0.0068	0.0066	0.0002	0.0011	0	0	0	0.0014	0	0.0008	0.0074	0.0004	0.0004	0.0003	0.0006	0.0102	0.0003	0.0003	0.0079	0.0071	0.0001	0	0.0003	0	0	0	0	1.47e-05	0.0005	0.0102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	37.15	1	chr8	11761669	.	G	A	37.15	.	AC=2;AF=0.2;AN=10;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=18.58;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:11761654_A_G:49,6,0:11761654	4	1	0	2
chr8	18868023	18868023	G	T	exonic	PSD3	.	nonsynonymous SNV	PSD3:NM_001362819:exon3:c.C1186A:p.L396I,PSD3:NM_015310:exon4:c.C1285A:p.L429I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.007236427777	0.0004	0.000199681	0.0001	0.0016	0	0	0	0	0	0	0.0001294	20	154602	rs181164284	6.638e-05	6.635e-05	7.353e-05	5.916e-05	0.0021	5.564e-05	5.154e-05	0.0017	0.0016	0.0021	8.957e-05	0	0	0	0.0002	2.698e-06	0.0003	2.323e-05	0.0007	0.0007	0.0008	0.0006	0.0023	0.0006	0.0005	0.0019	0.0018	0.0023	0	0.0002	0	0	0	0	2.94e-05	0.0009	0	0.003	0.68238	D	0.14	0.33554	T	.	.	.	.	.	.	0.037293	0.24419	N	0.294931	1	0.08975	N	1.625	0.41611	L	2.76	0.11622	T	-0.58	0.17417	N	0.48	0.51494	-1.0677	0.09926	T	0.035	0.15160	T	10	0.019435108	0.00434	T	0.007236	0.19198	T	0.066	0.19193	.	.	0.168254554758	0.16434	0.04038194735261915	0.03984	0.0683026046821	0.07650	0.400129914284	0.25087	T	0.042558	0.26220	T	-0.522125	0.00428	T	-0.52801	0.19487	T	0.0735943119637271	0.09146	T	0.706729	0.31713	T	0.101257645	0.23918	0.1013314	0.24255	0.101257645	0.23918	0.1013314	0.24254	-4.598	0.32184	T	.	.	0.077	0.15921	B	.;.;.	.;.;.	2.448140	0.31522	18.77	0.99068450841637645	0.51668	0.74543	0.36468	D	AEFBI	0.135931	0.25642	N	-0.0757183026143761	0.38459	2.252883	-0.19494428717942	0.31721	1.797914	0.992786145563748	0.32967	0.722319	0.85440	0	0.547309	0.14657	0	0.566861	0.19136	0	0.735409	0.98432	0	.	.	4.57	1.76	0.23776	2.404000	0.44192	2.055000	0.30365	0.618000	0.50648	1.000000	0.71638	0.966000	0.29516	0.623000	0.31974	0.2761:0.0:0.7239:0.0	8.075	0.29871	943	0.12886	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1198.83	35	chr8	18868023	.	G	T	1198.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.293;DP=259;ExcessHet=0;FS=0.85;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.37;SOR=0.574	GT:AD:DP:GQ:PL	0/1:41,46:87:99:1209,0,1114	6	0	1	0
chr8	21969497	21969497	G	T	exonic	XPO7	.	nonsynonymous SNV	XPO7:NM_001100161:exon3:c.G180T:p.Q60H,XPO7:NM_001362802:exon3:c.G180T:p.Q60H,XPO7:NM_015024:exon3:c.G180T:p.Q60H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.11781374991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.161	0.32891	T	0.603	0.51194	P	0.468	0.54017	P	0.000043	0.53742	D	0.132275	1	0.81001	D	2.25	0.63811	M	-0.34	0.68474	T	-3.12	0.63782	D	0.739	0.74007	-0.1158	0.79732	T	0.421	0.76637	T	10	0.8155061	0.80793	D	0.117814	0.79769	D	0.503	0.78538	0.632	0.76810	0.664031197513	0.66121	0.9180845576219054	0.91784	1.49711821215	0.86978	0.751150250435	0.74616	T	0.26579	0.63768	T	0.311932	0.83891	D	0.210292	0.83681	D	0.957006931304932	0.64900	D	0.991001	0.97222	D	0.2631833	0.49382	0.22657618	0.47640	0.2631833	0.49382	0.22657618	0.47639	-10.249	0.75389	D	.	.	0.975	0.90360	P	.;.	.;.	4.268087	0.64919	24.8	0.997539229854433	0.84460	0.92266	0.55317	D	AEFBCI	0.683492	0.64616	D	0.417774013675022	0.62399	4.455231	0.440571212871786	0.64113	4.659243	0.999999829927551	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.51	4.64	0.57399	5.384000	0.65976	9.721000	0.81366	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0716:0.0:0.9284:0.0	14.592	0.67969	547	0.72440	Importin-beta, N-terminal domain|Importin-beta, N-terminal domain|Importin-beta, N-terminal domain;Importin-beta, N-terminal domain|Importin-beta, N-terminal domain|Importin-beta, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2377.44	35	chr8	21969497	.	G	T	2377.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.319;DP=391;ExcessHet=0;FS=0.534;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.407;SOR=0.614	GT:AD:DP:GQ:PL	0/1:100,100:200:99:2388,0,2339	6	0	1	0
chr8	22034526	22034528	AAG	-	exonic	NPM2	.	nonframeshift deletion	NPM2:NM_001286681:exon6:c.381_383del:p.R130del,NPM2:NM_182795:exon7:c.548_550del:p.E187del,NPM2:NM_001286680:exon8:c.548_550del:p.E187del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	2.485e-05	9.833e-05	8.64e-05	0	0	0	0	6.164e-05	1.94e-05	3	154602	rs770395794	1.781e-05	1.847e-05	2.045e-05	1.514e-05	0.0004	1.239e-05	1.053e-05	0.0002	0.0002	0.0004	2.242e-05	0	5.038e-05	0	0	7.203e-06	0	3.482e-05	6.569e-05	6.567e-05	0.0001	2.689e-05	0.0002	3.516e-05	2.616e-05	0.0001	9.936e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1102.45	20	chr8	22034525	.	AAAG	A	1102.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.069;DP=214;ExcessHet=0;FS=2.498;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.5;ReadPosRankSum=-0.384;SOR=0.346	GT:AD:DP:GQ:PL	0/1:21,28:49:99:1113,0,792	6	0	1	0
chr8	22156517	22156517	C	-	exonic	LGI3	.	frameshift deletion	LGI3:NM_139278:exon1:c.26delG:p.G9Afs*61	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs894404355	4.563e-05	0.0004	4.359e-05	4.779e-05	0.0002	3.589e-05	3.22e-05	6.369e-05	3.458e-05	0	0.0002	0.0001	3.608e-05	0.0001	0	3.753e-05	4.094e-05	0.0001	5.283e-05	5.257e-05	5.164e-05	5.408e-05	9.676e-05	2.569e-05	1.838e-05	3.255e-05	1.918e-05	9.676e-05	0	6.573e-05	0	0	9.573e-05	0	2.956e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	37.54	5	chr8	22156516	.	GC	G	37.54	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.645;DP=30;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=-1.645;SOR=0.061	GT:AD:DP:GQ:PL	0/1:3,2:5:47:47,0,78	5	0	1	1
chr8	47727284	47727284	C	T	exonic	SPIDR	.	nonsynonymous SNV	SPIDR:NM_001352959:exon8:c.C941T:p.P314L,SPIDR:NM_001352960:exon10:c.C851T:p.P284L,SPIDR:NM_001352945:exon13:c.C1700T:p.P567L,SPIDR:NM_001352941:exon14:c.C1910T:p.P637L,SPIDR:NM_001352953:exon14:c.C1493T:p.P498L,SPIDR:NM_001352956:exon14:c.C1493T:p.P498L,SPIDR:NM_001352939:exon15:c.C1934T:p.P645L,SPIDR:NM_001352942:exon15:c.C1769T:p.P590L,SPIDR:NM_001352952:exon15:c.C1493T:p.P498L,SPIDR:NM_001352955:exon15:c.C1493T:p.P498L,SPIDR:NM_001352957:exon15:c.C1493T:p.P498L,SPIDR:NM_001282916:exon16:c.C2216T:p.P739L,SPIDR:NM_001352935:exon16:c.C2216T:p.P739L,SPIDR:NM_001352938:exon16:c.C1934T:p.P645L,SPIDR:NM_001352940:exon16:c.C1934T:p.P645L,SPIDR:NM_001352946:exon16:c.C1676T:p.P559L,SPIDR:NM_001352948:exon16:c.C1676T:p.P559L,SPIDR:NM_001352950:exon16:c.C1934T:p.P645L,SPIDR:NM_001352951:exon16:c.C1676T:p.P559L,SPIDR:NM_001080394:exon17:c.C2426T:p.P809L,SPIDR:NM_001282919:exon17:c.C2246T:p.P749L,SPIDR:NM_001352931:exon17:c.C2426T:p.P809L,SPIDR:NM_001352932:exon17:c.C2306T:p.P769L,SPIDR:NM_001352933:exon17:c.C2246T:p.P749L,SPIDR:NM_001352934:exon17:c.C2426T:p.P809L,SPIDR:NM_001352937:exon17:c.C2246T:p.P749L,SPIDR:NM_001352947:exon17:c.C1676T:p.P559L,SPIDR:NM_001352949:exon18:c.C1769T:p.P590L,SPIDR:NM_001352958:exon19:c.C1178T:p.P393L	.	428	1093	1	0	0	1	0.000457247	.	.	.	736689	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.024	.	0.0002	0.00758786	0.0046	0.0002	8.905e-05	0	0.0010	0.0006	0.0046	0.0304	0.003965	613	154602	rs199612363	0.0020	0.0020	0.0013	0.0028	0.0272	0.0020	0.0019	0.0263	0.0260	0.0001	0.0002	0	0.0001	0.0011	0.0010	0.0004	0.0023	0.0272	0.0013	0.0013	0.0009	0.0018	0.0290	0.0012	0.0011	0.0251	0.0236	0.0001	0	0.0003	0	0	0.0016	0	0.0005	0	0.0290	0.581	0.22312	T	0.006	0.72224	D	0.333	0.38987	B	0.042	0.30945	B	0.026362	0.25931	N	0.449261	1	0.08975	N	1.295	0.32453	L	.	.	.	-4.93	0.95336	D	0.291	0.38950	-1.0043	0.28666	T	0.114	0.40559	T	9	0.0048718154	0.00104	T	.	.	.	0.054	0.15330	.	.	0.143124449307	0.13826	0.24004243351475385	0.23918	0.300067500273	0.32371	.	.	.	0.202897	0.56120	T	-0.439955	0.01294	T	-0.383791	0.35277	T	0.0853742363017017	0.10659	T	0.70443	0.32778	T	0.045078773	0.07319	0.09386496	0.22191	0.045078773	0.07318	0.09386496	0.22191	-9.053	0.68038	D	.	.	0.079	0.18663	B	.;.;.;.;.;.	.;.;.;.;.;.	3.117954	0.42087	21.5	0.90126381669951006	0.19406	0.55158	0.29794	D	AEFDBI	0.088301	0.17902	N	-0.231345839894009	0.31854	1.790376	-0.229969089704573	0.30468	1.71573	0.889699909768207	0.25819	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.84	3.13	0.35090	0.875000	0.27729	0.534000	0.19274	-0.798000	0.03190	0.869000	0.30776	0.000000	0.08366	0.484000	0.28656	0.1319:0.6613:0.0:0.2068	6.048	0.18997	624	0.65661	Domain of unknown function DUF4503;.;.;Domain of unknown function DUF4503;Domain of unknown function DUF4503;Domain of unknown function DUF4503	.	.	.	.	.	Likely benign	0	0	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1109.53	33	chr8	47727284	.	C	T	1109.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=282;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=1.57;SOR=0.767	GT:AD:DP:GQ:PL	0/1:53,45:98:99:1120,0,1243	6	0	1	0
chr8	60742450	60742450	A	G	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_001316690:exon1:c.A1018G:p.M340V,CHD7:NM_017780:exon2:c.A1018G:p.M340V	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	0	1482	40	0	0	40	0.0133156	.	.	.	101670	not_provided|CHARGE_syndrome|Hypogonadotropic_hypogonadism_5_with_or_without_anosmia|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.323	0.0339114867738	0.0056	0.00219649	0.0042	0.0018	0.0027	0	0.0018	0.0063	0.0011	0.0013	0.0046118	713	154602	rs41305525	0.0063	0.0063	0.0064	0.0062	0.0074	0.0062	0.0062	0.0073	0.0072	0.0011	0.0037	0.0091	2.519e-05	0.0022	0.0055	0.0074	0.0054	0.0010	0.0050	0.0050	0.0047	0.0053	0.0092	0.0047	0.0045	0.0079	0.0074	0.0011	0.0230	0.0092	0.0072	0	0.0022	0.0034	0.0071	0.0062	0.0012	0.08	0.38185	T	0.547	0.22561	T	0.0	0.02946	B	0.0	0.01387	B	0.000072	0.52346	D	0.000000	0.898011	0.37487	D	0.805	0.20218	L	-1.41	0.80560	T	-0.42	0.18459	N	0.598	0.61680	-0.6566	0.62426	T	0.238	0.60547	T	10	0.00827083	0.00188	T	0.033911	0.55311	D	0.323	0.64522	.	.	0.976595498363	0.97634	0.4353467972002826	0.43451	0.10439461914	0.11810	0.490928173065	0.37567	T	0.119051	0.44030	T	-0.161409	0.26543	T	0.00575872	0.70709	D	0.0103646805390991	0.00142	T	0.849815	0.54891	T	0.21582852	0.44026	0.19427694	0.43042	0.2614135	0.49200	0.23961963	0.49315	-5.88	0.45605	T	.	.	0.055	0.00524	B	.;.;.	.;.;.	2.315230	0.29642	18.19	0.93778370641130049	0.23734	0.78177	0.38532	D	AEFDGBCI	0.178216	0.30547	N	-0.179153468122502	0.34004	1.935703	0.0170262268929298	0.40506	2.418432	0.999995284942806	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.67	4.5	0.54382	4.816000	0.62333	7.906000	0.73790	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8644:0.1356:0.0:0.0	12.926	0.57656	868	0.31772	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005539	0.000000	0.002717	0.002924	0.050000	0.000000	0.006098	0.015152	0.07143	2502.44	33	chr8	60742450	.	A	G	2502.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.921;DP=385;ExcessHet=0;FS=2.668;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.121;SOR=0.921	GT:AD:DP:GQ:PL	0/1:81,97:178:99:2513,0,2098	6	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	113.3	33	chr8	66493691	.	G	C	113.3	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.485;DP=326;ExcessHet=0;FS=189.948;MLEAC=1;MLEAF=0.071;MQ=58.66;MQRankSum=0.558;QD=1.86;ReadPosRankSum=1.4;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,19:61:99:0|1:66493691_G_C:123,0,814:66493691	6	0	1	0
chr8	67201504	67201504	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon37:c.G5230A:p.V1744I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00664328931938	.	0.000798722	0.0004	0.0002	0.0003	0.0002	0	4.497e-05	0	0.0024	0.0003881	60	154602	rs372291665	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	3.003e-05	0.0003	3.833e-05	0.0001	1.873e-05	0.0003	3.96e-05	0.0002	0.0025	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	4.811e-05	0	0.0003	0	0	0	0.0034	8.82e-05	0	0.0027	0.127	0.27080	T	0.225	0.25514	T	0.048	0.22112	B	0.018	0.18489	B	0.550974	0.11436	N	0.816782	1	0.08975	N	0.115	0.08564	N	0.97	0.42502	T	-0.31	0.12099	N	0.046	0.01825	-1.0203	0.23616	T	0.053	0.22655	T	10	0.006272733	0.00141	T	0.006643	0.17529	T	0.049	0.13647	.	.	0.200294437569	0.19612	0.027002671277723125	0.02650	0.468642469395	0.46202	0.257009446621	0.04541	T	0.095075	0.39547	T	-0.619835	0.00110	T	-0.668674	0.07693	T	0.00408437667957735	0.00043	T	0.50185	0.15733	T	0.018952077	0.00420	0.030926231	0.01613	0.018952077	0.00419	0.030926231	0.01612	-3.615	0.18074	T	.	.	0.068	0.02765	B	.	.	1.624862	0.20752	14.89	0.93446374230100049	0.23227	0.09132	0.14949	N	AEFBI	0.052207	0.09295	N	-1.00563472876127	0.08486	0.3980818	-0.929184740388801	0.11407	0.5809456	0.003921937800089	0.10341	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.42	1.1	0.19578	1.874000	0.39205	.	.	-0.850000	0.02721	0.008000	0.17931	0.000000	0.08366	0.648000	0.32638	0.0:0.411:0.0:0.589	6.768	0.22765	628	0.65206	.	.	.	.	.	.	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	0.001007	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1240.46	33	chr8	67201504	.	C	T	1240.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.77;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-1.716;SOR=0.669	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1251,0,1593	6	0	1	0
chr8	76851012	76851012	G	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.G4091T:p.S1364I	.	0	1516	5	1	0	7	0.00230339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0158183269147	0.0002	0.000599042	0.0003	0	0.0003	0	0	0.0002	0.0011	0.0013	0.0002911	45	154602	rs202188141	0.0003	0.0003	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0010	2.987e-05	0.0008	3.826e-05	0	0	0.0005	0.0002	0.0001	0.0013	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	9.624e-05	0	0.0007	0	0	0	0.0034	0.0002	0.0005	0.0017	0.014	0.58626	D	0.019	0.59159	D	.	.	.	.	.	.	0.033105	0.24940	U	0.291648	0.887159	0.37123	D	.	.	.	0.69	0.51714	T	-2.14	0.48523	N	0.349	0.47115	-0.8576	0.51434	T	0.127	0.43339	T	10	0.025031954	0.00710	T	0.015818	0.36761	T	0.103	0.29403	.	.	0.123314135267	0.11883	0.3174596087985122	0.31658	0.196466744012	0.22005	0.363212525845	0.19852	T	.	.	.	-0.337094	0.05592	T	-0.307429	0.43935	T	0.0653872507335989	0.07987	T	0.644935	0.26896	T	.	.	.	.	.	.	.	.	-4.24	0.27327	T	.	.	0.086	0.10691	B	.;.;.	.;.;.	3.402849	0.47165	22.4	0.98786684423702131	0.46222	0.97438	0.74751	D	AEFBI	0.586042	0.58423	D	-0.0461108992965707	0.39776	2.351187	0.0607690685982186	0.42595	2.579112	0.882419080588747	0.25652	0.638212	0.43195	0	0.610034	0.51514	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	4.65	3.76	0.42368	3.392000	0.52279	4.618000	0.44064	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1429:0.8571:0.0	15.069	0.71685	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1701.46	36	chr8	76851012	.	G	T	1701.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.964;DP=315;ExcessHet=0;FS=5.965;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.92;SOR=1.222	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1712,0,1566	6	0	1	0
chr8	87206075	87206075	G	A	exonic	CNBD1	.	nonsynonymous SNV	CNBD1:NM_173538:exon5:c.G514A:p.D172N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0371904183206	.	.	9.318e-06	0	0	0	0	0	0	6.974e-05	6.5e-06	1	154602	rs745548588	2.062e-06	2.052e-06	0	4.146e-06	2.341e-05	5.5e-07	1.5e-07	3.89e-06	1.46e-06	0	0	0	0	0	0	9.022e-07	0	2.341e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.483	0.14633	T	0.022	0.18677	B	0.012	0.16012	B	0.134889	0.02838	N	2.056800	1	0.08975	N	0.205	0.09354	N	-4.16	0.96826	D	-1.52	0.36980	N	0.168	0.17828	-0.0885	0.80361	T	0.690	0.89309	D	10	0.057771564	0.06688	T	0.03719	0.57461	D	0.230	0.53062	0.253	0.19223	0.101711395817	0.09552	0.11208737952720348	0.11137	0.00474942746562	0.00421	0.334331333637	0.15586	T	0.003925	0.03333	T	-0.191117	0.22095	T	-0.411673	0.32033	T	0.0253224432165883	0.01315	T	0.516848	0.16688	T	0.040982213	0.05951	0.03370593	0.02311	0.040982213	0.05951	0.03370593	0.02310	-4.459	0.30348	T	.	.	0.115	0.23041	B	.;.	.;.	0.995205	0.13731	10.28	0.76802077728408336	0.11615	0.02319	0.06648	N	AEFI	0.050910	0.08942	N	-1.07762952213251	0.07058	0.3267161	-1.07886466325814	0.08117	0.3977066	5.34464006079041E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	-0.658	0.10855	0.241000	0.17843	1.065000	0.23755	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.273000	0.23843	0.1837:0.2841:0.4024:0.1298	2.410	0.04152	730	0.54327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	876.44	38	chr8	87206075	.	G	A	876.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.853;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.711;SOR=0.746	GT:AD:DP:GQ:PL	0/1:42,41:83:99:887,0,957	6	0	1	0
chr8	96231832	96231832	A	T	exonic	UQCRB	.	nonsynonymous SNV	UQCRB:NM_001254752:exon3:c.T200A:p.L67Q,UQCRB:NM_006294:exon3:c.T200A:p.L67Q,UQCRB:NM_001199975:exon4:c.T104A:p.L35Q	Mitochondrial complex III deficiency, nuclear type 3, Autosomal recessive	17	1487	14	4	0	22	0.00734312	.	.	.	272291	UQCRB-related_disorder|not_provided|Mitochondrial_complex_III_deficiency_nuclear_type_3	.|MedGen:C3661900|MONDO:MONDO:0014064,MedGen:C3554606,OMIM:615158	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.572	0.0206000171194	0.0006	0.000798722	0.0013	0	0.0003	0.0001	0.0002	0.0008	0.0022	0.0058	0.0010996	170	154602	rs139283183	0.0008	0.0008	0.0006	0.0011	0.0059	0.0008	0.0008	0.0055	0.0053	0	0.0006	0.0019	2.519e-05	9.363e-05	0.0054	0.0005	0.0009	0.0059	0.0007	0.0007	0.0005	0.0009	0.0062	0.0006	0.0006	0.0045	0.0039	4.81e-05	0	0.0010	0.0017	0	0	0.0034	0.0007	0.0009	0.0062	0.012	0.55530	D	0.106	0.53072	T	0.999	0.77913	D	0.974	0.73157	D	0.000014	0.62929	D	0.069588	0.999996	0.58761	D	3.11	0.87757	M	0.87	0.46412	T	-4.21	0.75776	D	0.912	0.91391	-0.3279	0.74194	T	0.302	0.67270	T	10	0.06909698	0.09865	T	0.021	0.43227	T	0.572	0.82629	.	.	0.549036597592	0.54559	0.7112417333512945	0.71066	0.325846186387	0.34731	0.531885385513	0.43300	T	0.181884	0.53370	T	-0.0401026	0.45933	T	0.171538	0.81501	D	0.354146242141724	0.27180	T	0.864413	0.56163	D	0.817386	0.85045	0.6182653	0.77771	0.8437003	0.86875	0.5981718	0.76664	-4.024	0.24162	T	0.2855400361828851	0.38147	0.684	0.72303	P	.;.;.;.	.;.;.;.	4.572883	0.72161	25.8	0.99420801887832366	0.63742	0.97504	0.75178	D	AEFDGBHCI	0.933407	0.92527	D	0.738061754990519	0.82126	7.686163	0.633761207554803	0.77406	6.673302	0.99999999925275	0.74766	0.741868	0.97996	0	0.774882	0.99574	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	8.977000	0.93019	10.965000	0.84489	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	1.0:0.0:0.0:0.0	13.821	0.62813	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.007576	0.07143	1893.46	43	chr8	96231832	.	A	T	1893.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.711;DP=326;ExcessHet=0;FS=4.355;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.275;SOR=0.41	GT:AD:DP:GQ:PL	0/1:58,70:128:99:1904,0,1422	6	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	0.07143	794.63	33	chr8	109293385	.	T	C	794.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.317;DP=261;ExcessHet=0;FS=1.715;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-0.721;SOR=0.953	GT:AD:DP:GQ:PL	0/1:56,38:94:99:805,0,1290	6	0	1	0
chr8	120488314	120488314	A	G	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon12:c.A1321G:p.T441A	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0072	0.0081869	0.0023	0.0208	0.0012	0	0	0.0005	0.0023	0.0001	0.0021216	328	154602	rs73705079	0.0009	0.0010	0.0009	0.0009	0.0221	0.0009	0.0009	0.0207	0.0201	0.0221	0.0020	0.0004	0	0	0.0133	0.0003	0.0021	0.0002	0.0062	0.0062	0.0063	0.0061	0.0203	0.0059	0.0057	0.0192	0.0187	0.0203	0	0.0034	0	0	0	0.0136	0.0004	0.0085	0.0002	0.514	0.07401	T	0.498	0.11263	T	0.002	0.09854	B	0.002	0.06944	B	0.415794	0.12935	N	0.761051	1	0.08975	N	1.79	0.46772	L	.	.	.	-0.25	0.11008	N	0.133	0.12913	-1.0281	0.21070	T	0.016	0.06425	T	9	0.0036792457	0.00067	T	.	.	.	0.041	0.10877	.	.	0.151104730317	0.14643	0.1444410203532309	0.14367	0.147605214944	0.16655	0.266594558954	0.05701	T	0.032316	0.22431	T	-0.664382	0.00059	T	-0.71152	0.05218	T	0.000487948713852683	0.00004	T	0.510449	0.16283	T	0.03665509	0.04550	0.026101867	0.00682	0.03665509	0.04550	0.026101867	0.00682	-3.709	0.19451	T	.	.	0.074	0.05103	B	.	.	0.707193	0.10760	7.448	0.50440270083957073	0.04385	0.01682	0.05369	N	AEFGBI	0.021312	0.00936	N	-1.03108525949793	0.07963	0.3717751	-1.00980297621209	0.09568	0.4768195	0.0189973076549855	0.13118	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.97	0.358	0.15319	0.395000	0.20576	0.273000	0.16680	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.935000	0.47363	0.5239:0.1237:0.3524:0.0	7.409	0.26179	703	0.57489	MDM2-binding protein, central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006048	0.010101	0.005435	0.011765	0.000000	0.017241	0.000000	0.000000	0.07143	427.53	18	chr8	120488314	.	A	G	427.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.85;DP=185;ExcessHet=0;FS=1.339;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.249;SOR=1.015	GT:AD:DP:GQ:PL	0/1:26,17:43:99:438,0,667	6	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	.	.	.	.	.	.	.	.	0.2143	268.18	101	chr8	132010871	.	G	C	268.18	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.886;DP=842;ExcessHet=1.1394;FS=195.575;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=1.3;SOR=10.462	GT:AD:DP:GQ:PL	0/1:131,41:178:13:13,0,1976	4	0	3	0
chr8	143381304	143381304	G	A	exonic	RHPN1	.	nonsynonymous SNV	RHPN1:NM_052924:exon12:c.G1448A:p.R483H	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0205631390016	.	.	6.614e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs767448001	3.766e-05	3.831e-05	2.043e-05	5.506e-05	0.0005	2.962e-05	2.658e-05	0.0004	0.0003	5.975e-05	0	0	0	0	0	6.297e-06	4.971e-05	0.0005	2.626e-05	2.624e-05	0	5.369e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.981e-05	2.404e-05	0	0	0	0	0	0	0	0	0.0006	0.027	0.46513	D	0.056	0.46632	T	.	.	.	.	.	.	0.085689	0.20627	N	0.531595	0.999999	0.08975	N	.	.	.	2.27	0.17431	T	-0.64	0.18670	N	0.091	0.06990	-1.0479	0.14988	T	0.020	0.08500	T	10	0.06549844	0.08844	T	0.020563	0.43179	T	0.069	0.20116	0.355	0.35571	0.29385284311	0.29004	0.2467465449094228	0.24588	0.0760879406702	0.08543	0.225078761578	0.01624	T	.	.	.	-0.530851	0.00380	T	-0.657576	0.08430	T	0.0493918197708132	0.05393	T	0.430157	0.11673	T	0.04791953	0.08271	0.03828846	0.03666	0.04791953	0.08271	0.03828846	0.03665	-5.265	0.39596	T	.	.	0.066	0.02200	B	.	.	2.047839	0.26035	16.97	0.98631096101105897	0.43920	0.55558	0.29894	D	AEFGBI	0.115655	0.22730	N	-0.250071647759303	0.31101	1.740557	-0.210206408013356	0.31168	1.761414	0.999968415415006	0.48965	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.83	2.98	0.33575	1.464000	0.34898	.	.	0.672000	0.70159	0.968000	0.34134	0.578000	0.25607	0.306000	0.24642	0.1463:0.0:0.6932:0.1605	6.030	0.18900	976	0.04745	BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1893.44	33	chr8	143381304	.	G	A	1893.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.609;DP=351;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.063;SOR=0.741	GT:AD:DP:GQ:PL	0/1:79,81:160:99:1904,0,1749	6	0	1	0
chr8	143813513	143813513	C	A	exonic	SCRIB	.	nonsynonymous SNV	SCRIB:NM_015356:exon5:c.G460T:p.V154L,SCRIB:NM_182706:exon5:c.G460T:p.V154L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0162858394986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337358432	1.369e-06	1.368e-06	0	2.752e-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	6.565e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.307	0.16628	T	0.338	0.22154	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.98	0.09356	T	-1.53	0.37178	N	0.557	0.58202	-1.0311	0.20099	T	0.031	0.13242	T	9	0.31861788	0.49258	T	0.016286	0.37474	T	0.079	0.23065	0.322	0.30226	0.406955170226	0.40314	0.49410543263729106	0.49331	.	.	0.862726032734	0.91513	D	0.102575	0.41190	T	-0.153869	0.27709	T	-0.458799	0.26731	T	0.441829532384872	0.30497	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.695	0.73650	P	.;.;.	.;.;.	3.752625	0.53796	23.4	0.99688748083047984	0.79775	0.96638	0.70151	D	AEFDBHCI	0.713469	0.66626	D	0.0958919244010662	0.46271	2.870046	0.212488610194415	0.50541	3.24496	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.55	4.55	0.55429	2.560000	0.45559	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	16.642	0.84985	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	.	.	.	.	.	.	.	.	0.07143	1320.83	34	chr8	143813513	.	C	A	1320.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.246;DP=279;ExcessHet=0;FS=1.64;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-1.76;SOR=0.585	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1331,0,1164	6	0	1	0
chr8	143923487	143923487	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.C6400T:p.R2134W,PLEC:NM_201379:exon31:c.C6376T:p.R2126W,PLEC:NM_201380:exon31:c.C6853T:p.R2285W,PLEC:NM_201381:exon31:c.C6346T:p.R2116W,PLEC:NM_201382:exon31:c.C6442T:p.R2148W,PLEC:NM_201383:exon31:c.C6454T:p.R2152W,PLEC:NM_201384:exon31:c.C6442T:p.R2148W,PLEC:NM_000445:exon32:c.C6523T:p.R2175W	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	.	.	.	.	.	.	.	.	.	.	1028339	not_provided|Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_with_nail_dystrophy	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.281	0.673996709187	.	0.000798722	7.555e-05	0.0003	9.193e-05	0.0004	0	1.724e-05	0	6.372e-05	8.41e-05	13	154602	rs559437791	2.208e-05	2.263e-05	1.649e-05	2.773e-05	0.0001	1.598e-05	1.368e-05	6.276e-05	4.779e-05	5.983e-05	0	0	5.046e-05	0	0	1.445e-05	3.328e-05	0.0001	5.257e-05	5.252e-05	5.142e-05	5.377e-05	0.0002	2.557e-05	1.83e-05	4.731e-05	3.048e-05	0.0001	0	0	0	0.0002	0	0	1.471e-05	0	0.0002	0.0	0.91255	D	0.005	0.74150	D	0.999	0.77913	D	0.736	0.55529	P	0.000854	0.41440	U	0.087690	0.999222	0.21485	N	0.345	0.11182	N	-1.24	0.79475	T	-2.12	0.48184	N	0.387	0.47208	-0.3656	0.73095	T	0.464	0.79240	T	10	0.10401499	0.19153	T	0.673997	0.97286	D	0.281	0.59861	.	.	0.646763583254	0.64383	0.5540090331926825	0.55327	.	.	0.643137276173	0.59010	T	0.383603	0.74542	T	-0.218818	0.18155	T	-0.230127	0.51758	T	0.0850733712708593	0.10623	T	0.988876	0.96221	D	0.14517713	0.33290	0.105968796	0.25483	0.14517713	0.33290	0.105968796	0.25483	-8.819	0.67555	D	0.2244411931451709	0.30311	0.161	0.36154	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.582115	0.33479	19.35	0.79000676801044956	0.12546	0.36870	0.25632	N	AEFDBCI	0.457084	0.50868	N	-0.256214963524645	0.30857	1.724504	-0.425982429300984	0.24239	1.326173	0.999983206625817	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.98	1.58	0.22557	0.928000	0.28431	.	.	0.659000	0.54702	0.001000	0.13787	1.000000	0.68203	0.141000	0.19983	0.0:0.0:0.4298:0.5702	13.118	0.58726	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1661.63	43	chr8	143923487	.	G	A	1661.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.309;DP=387;ExcessHet=0;FS=1.667;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.31;ReadPosRankSum=-0.522;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,44:96:99:0|1:143923487_G_A:1672,0,2006:143923487	6	0	1	0
chr8	143984803	143984804	AG	-	exonic	PARP10	.	frameshift deletion	PARP10:NM_001317895:exon4:c.1234_1235del:p.L412Gfs*63,PARP10:NM_032789:exon5:c.1198_1199del:p.L400Gfs*63	.	383	1138	1	0	0	1	0.000439174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.252e-06	0	0	0	0	0	0.0011	0	.	.	.	.	6.162e-06	6.157e-06	1.363e-06	1.101e-05	9.277e-05	2.9e-06	2.1e-06	4.579e-05	3.273e-05	0	0	0	0	0	0	0	1.658e-05	9.277e-05	6.572e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1620.79	34	chr8	143984802	.	CAG	C	1620.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.538;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=-0.189;SOR=0.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,43:101:99:0|1:143984802_CAG_C:1631,0,2286:143984802	6	0	1	0
chr8	143984804	143984804	-	CTCCT	exonic	PARP10	.	frameshift insertion	PARP10:NM_001317895:exon4:c.1233_1234insAGGAG:p.L412Rfs*33,PARP10:NM_032789:exon5:c.1197_1198insAGGAG:p.L400Rfs*33	.	386	1135	1	0	0	1	0.000440335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.252e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs782662526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.563e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1620.79	34	chr8	143984804	.	G	GCTCCT	1620.79	.	AC=1;AF=0.071;AN=14;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=0.165;SOR=0.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,43:101:99:0|1:143984802_CAG_C:1631,0,2286:143984802	6	0	1	0
chr8	144254941	144254941	G	A	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon32:c.G3530A:p.R1177H,MROH1:NM_032450:exon34:c.G3557A:p.R1186H	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00832055255969	.	.	.	.	.	.	.	.	.	.	.	.	.	rs964017162	0.0004	0.0004	0.0002	0.0005	0.0028	0.0003	0.0003	0.0025	0.0024	5.684e-05	4.636e-05	0.0004	2.786e-05	3.895e-05	0	5.169e-05	0.0004	0.0028	0.0001	0.0001	6.427e-05	0.0001	0.0021	6.51e-05	5.322e-05	0.0011	0.0009	2.408e-05	0	0	0.0006	0.0002	0	0	2.941e-05	0	0.0021	0.108	0.31235	T	0.033	0.53072	D	0.925	0.58310	P	0.143	0.43183	B	0.823486	0.06898	N	1.095830	0.999993	0.18198	N	0	0.06538	N	5.06	0.03297	T	-0.93	0.27463	N	0.061	0.03613	-0.9268	0.44602	T	0.008	0.02638	T	10	0.07612148	0.11850	T	0.008321	0.22029	T	0.056	0.15993	0.449	0.50957	0.043077524339	0.03247	0.5034228181579242	0.50264	0.267618653401	0.29305	0.546966910362	0.45429	T	0.010236	0.09261	T	-0.2878	0.09858	T	-0.651181	0.08871	T	0.299656816182534	0.24990	T	0.909809	0.68064	D	0.10256445	0.24236	0.06413363	0.12809	0.10256445	0.24236	0.06413363	0.12809	-4.452	0.32497	T	.	.	0.079	0.08997	B	.;.;.;.	.;.;.;.	2.494733	0.32192	18.97	0.99868628344796939	0.94637	0.27354	0.23254	N	AEFGI	0.172062	0.29907	N	-0.388369508091481	0.25883	1.408354	-0.407877216266648	0.24766	1.358042	2.3590173699657E-4	0.06095	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	3.97	3.07	0.34476	0.989000	0.29229	2.884000	0.35347	0.672000	0.70159	0.047000	0.21291	0.490000	0.25148	0.081000	0.17303	0.1093:0.1969:0.6937:0.0	5.946	0.18454	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	.	.	.	.	.	.	.	.	0.07143	611.46	34	chr8	144254941	.	G	A	611.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.944;DP=232;ExcessHet=0;FS=2.434;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.203;SOR=0.667	GT:AD:DP:GQ:PL	0/1:23,26:49:99:622,0,472	6	0	1	0
chr8	144264233	144264233	C	T	exonic	BOP1	.	nonsynonymous SNV	BOP1:NM_015201:exon7:c.G970A:p.E324K	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0192376660274	.	.	.	.	.	.	.	.	.	.	.	.	.	rs904680381	0.0013	0.0013	0.0012	0.0014	0.0097	0.0013	0.0012	0.0076	0.0068	0.0003	0.0015	0.0173	2.528e-05	3.861e-05	0.0097	0.0010	0.0028	0.0013	0.0014	0.0014	0.0013	0.0015	0.0018	0.0012	0.0012	0.0012	0.0011	0.0005	0.0121	0.0018	0.0164	0	0	0.0068	0.0012	0.0024	0.0004	0.228	0.18434	T	0.15	0.32461	T	.	.	.	.	.	.	0.001395	0.39175	N	0.211078	.	.	.	.	.	.	1.07	0.39586	T	-2.44	0.53420	N	0.236	0.26596	-0.8609	0.51198	T	0.114	0.40559	T	6	0.014840722	0.00312	T	0.10154	0.77448	D	.	.	.	.	0.283272178027	0.27931	0.43584697494302443	0.43501	.	.	0.764852046967	0.76653	T	0.194478	0.55027	T	-0.188948	0.22413	T	-0.509187	0.21399	T	0.872432172298431	0.52231	D	.	.	.	0.09370612	0.22014	0.1122232	0.27075	0.09370612	0.22014	0.1122232	0.27074	-9.848	0.72997	D	.	.	0.092	0.13783	B	.	.	1.559095	0.19974	14.53	0.97557370007692779	0.34604	0.30039	0.23979	N	AEFGI	0.308554	0.41510	N	-0.477214403953392	0.22830	1.221735	-0.552560978675029	0.20738	1.118674	0.0671524018112715	0.15417	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.56	2.67	0.30756	0.739000	0.25841	1.068000	0.23780	-0.195000	0.09104	0.008000	0.17931	0.307000	0.24252	0.001000	0.02609	0.0:0.8837:0.0:0.1163	8.855	0.34379	946	0.12043	BOP1, N-terminal domain|BOP1, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1783.44	44	chr8	144264233	.	C	T	1783.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.324;DP=347;ExcessHet=0;FS=6.139;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=2.01;SOR=0.799	GT:AD:DP:GQ:PL	0/1:71,72:143:99:1794,0,1719	6	0	1	0
chr9	713428	713428	C	G	exonic	KANK1	.	nonsynonymous SNV	KANK1:NM_001354335:exon2:c.C2188G:p.P730A,KANK1:NM_001354336:exon2:c.C2188G:p.P730A,KANK1:NM_001354337:exon2:c.C2188G:p.P730A,KANK1:NM_001354338:exon2:c.C2188G:p.P730A,KANK1:NM_001354339:exon2:c.C2188G:p.P730A,KANK1:NM_001354340:exon2:c.C2188G:p.P730A,KANK1:NM_001354341:exon2:c.C2188G:p.P730A,KANK1:NM_001354342:exon2:c.C2188G:p.P730A,KANK1:NM_001354343:exon2:c.C2188G:p.P730A,KANK1:NM_001354344:exon2:c.C2188G:p.P730A,KANK1:NM_153186:exon2:c.C2188G:p.P730A,KANK1:NM_001354331:exon3:c.C2662G:p.P888A,KANK1:NM_001354332:exon3:c.C2662G:p.P888A,KANK1:NM_001354333:exon3:c.C2188G:p.P730A,KANK1:NM_015158:exon3:c.C2662G:p.P888A,KANK1:NM_001256877:exon4:c.C2662G:p.P888A,KANK1:NM_001354334:exon4:c.C2662G:p.P888A,KANK1:NM_001256876:exon7:c.C2662G:p.P888A	Cerebral palsy, spastic quadriplegic, 2	0	1512	10	0	0	10	0.00329598	.	.	.	751755	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.015	0.00429627321438	7.7e-05	0.00139776	0.0010	0	0	0	0	3.081e-05	0	0.0089	0.0008279	128	154602	rs374172115	0.0004	0.0004	0.0002	0.0006	0.0068	0.0004	0.0004	0.0063	0.0061	0	0	0.0004	0	0	0.0012	9.927e-06	0.0004	0.0068	0.0002	0.0002	8.997e-05	0.0004	0.0072	0.0002	0.0002	0.0054	0.0047	2.405e-05	0	0	0	0	0	0	0	0.0005	0.0072	0.761	0.03471	T	0.891	0.03428	T	0.006	0.13644	B	0.005	0.11217	B	0.921180	0.08486	N	0.961032	1	0.08975	N	1.265	0.31966	L	2.25	0.17761	T	0.03	0.06612	N	0.176	0.23380	-0.9603	0.39124	T	0.018	0.07423	T	10	0.003571123	0.00065	T	0.004296	0.10404	T	0.015	0.02232	.	.	0.0297737177859	0.01360	0.056704437768185734	0.05611	.	.	0.225619286299	0.01660	T	0.013045	0.11355	T	-0.687216	0.00043	T	-0.754928	0.03297	T	0.00937458822451532	0.00120	T	0.680032	0.28847	T	0.049087267	0.08660	0.02691896	0.00809	0.05192367	0.09608	0.02907938	0.01208	-4.376	0.29230	T	0.1266855341724846	0.12836	0.064	0.01762	B	.;.;.;.	.;.;.;.	-0.293123	0.02648	0.336	0.51266759792599514	0.04532	0.20890	0.21206	N	AEFDBCIJ	0.121980	0.23691	N	-1.36940994262032	0.02929	0.130068	-1.40071422032754	0.03245	0.1509954	0.999999987600815	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.97	-8.43	0.00833	-1.523000	0.02339	-2.329000	0.03893	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.297:0.2247:0.3183:0.16	2.084	0.03421	725	0.54935	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	545.27	30	chr9	713428	.	C	G	545.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.541;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.738;SOR=0.804	GT:AD:DP:GQ:PL	0/1:23,22:45:99:555,0,544	5	0	1	1
chr9	14770785	14770785	C	A	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001177704:exon3:c.G487T:p.A163S,FREM1:NM_001370058:exon3:c.G487T:p.A163S,FREM1:NM_001370061:exon3:c.G487T:p.A163S,FREM1:NM_001379081:exon26:c.G4879T:p.A1627S,FREM1:NM_144966:exon27:c.G4879T:p.A1627S	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	1	1515	5	1	0	7	0.00230491	.	.	.	901624	not_provided|Oculotrichoanal_syndrome|FREM1-related_disorder	MedGen:C3661900|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.207	0.0150305045891	8.1e-05	0.000199681	0.0009	0.0001	0	0	0	0.0002	0.0012	0.0054	0.0006339	98	154602	rs370198850	0.0004	0.0004	0.0002	0.0006	0.0052	0.0004	0.0004	0.0048	0.0047	0	8.979e-05	3.832e-05	0	0	0.0005	0.0001	0.0003	0.0052	0.0003	0.0003	0.0001	0.0004	0.0056	0.0002	0.0002	0.0039	0.0034	2.406e-05	0	6.549e-05	0	0	0	0.0034	0.0001	0.0005	0.0056	0.356	0.20456	T	0.071	0.43531	T	0.987	0.61912	D	0.893	0.63340	P	0.000046	0.53742	D	0.159950	0.99986	0.50595	D	2.38	0.68558	M	0.93	0.44065	T	-1.78	0.43334	N	0.47	0.54409	-0.9151	0.46207	T	0.203	0.55989	T	10	0.017482787	0.00373	T	0.015031	0.35522	T	0.207	0.49555	.	.	0.390220360785	0.38632	0.3338260838981546	0.33295	.	.	0.334422290325	0.15601	T	0.11292	0.42956	T	-0.441808	0.01262	T	-0.406862	0.32587	T	0.0497676944314715	0.05461	T	0.651635	0.33655	T	0.13605459	0.31555	0.18145664	0.41010	0.15677375	0.35361	0.15580149	0.36503	-4.428	0.29934	T	0.1742536100577756	0.22121	0.098	0.16451	B	.;.;.	.;.;.	2.672353	0.34844	19.74	0.98844987966794873	0.47186	0.97002	0.72125	D	AEFGBI	0.570168	0.57466	D	0.123049410112755	0.47541	2.978252	0.090425216506091	0.44065	2.695562	0.999990836220289	0.74766	0.516011	0.20929	0	0.563428	0.19063	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.58	5.58	0.84361	2.846000	0.47962	2.709000	0.34221	0.599000	0.40250	0.992000	0.37556	0.993000	0.31925	0.013000	0.09966	0.0:1.0:0.0:0.0	19.568	0.95396	757	0.50970	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001014	0.005155	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	469.83	26	chr9	14770785	.	C	A	469.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.042;DP=203;ExcessHet=0;FS=4.591;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.887;SOR=0.237	GT:AD:DP:GQ:PL	0/1:21,22:43:99:480,0,604	6	0	1	0
chr9	18622276	18622276	G	A	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon5:c.G508A:p.V170I,ADAMTSL1:NM_052866:exon5:c.G508A:p.V170I	.	430	1071	20	1	0	22	0.0101664	.	.	.	3208148	ADAMTSL1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.092	0.00558072628727	0.0019	0.00219649	0.0029	0.0004	0.0029	0.0001	0.0035	0.0032	0.0044	0.0048	0.0027619	427	154602	rs146511703	0.0024	0.0024	0.0023	0.0026	0.0120	0.0024	0.0023	0.0097	0.0089	0.0004	0.0025	0.0007	7.559e-05	0.0018	0.0120	0.0024	0.0023	0.0051	0.0022	0.0022	0.0021	0.0023	0.0048	0.0020	0.0019	0.0033	0.0028	0.0004	0	0.0028	0.0009	0	0.0022	0.0204	0.0031	0.0019	0.0048	0.12	0.31987	T	0.083	0.41405	T	0.001	0.13644	B	0.0	0.10090	B	.	.	.	.	0.976175	0.26481	N	1.095	0.27400	L	-0.31	0.68030	T	-0.72	0.25770	N	0.168	0.24883	-0.9663	0.37954	T	0.127	0.43380	T	9	0.0058428645	0.00130	T	0.005581	0.14409	T	0.092	0.26621	.	.	0.459818148978	0.45609	0.15861690945872592	0.15782	0.0558040157175	0.06170	0.31782501936	0.13091	T	0.035502	0.23742	T	-0.507669	0.00517	T	-0.501467	0.22195	T	0.0204572970002746	0.00745	T	0.790821	0.43180	T	0.042745262	0.06540	0.07514392	0.16512	0.042745262	0.06540	0.07514392	0.16511	-6.548	0.52238	T	.	.	0.083	0.09723	B	.;.;.;.;.	.;.;.;.;.	2.315542	0.29649	18.19	0.99393732674537361	0.62474	0.89029	0.49255	D	AEFBHCI	0.442653	0.50029	N	-0.253459625366045	0.30965	1.73169	-0.0887941676486003	0.35853	2.079185	0.999996183082164	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.63	2.68	0.30839	4.871000	0.62737	1.839000	0.29174	0.676000	0.76740	1.000000	0.71638	0.946000	0.28899	0.998000	0.85391	0.0795:0.0:0.9205:0.0	14.571	0.67803	912	0.21483	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.010101	0.010870	0.011696	0.000000	0.000000	0.006098	0.003788	0.07143	1308.45	42	chr9	18622276	.	G	A	1308.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.38;DP=314;ExcessHet=0;FS=0.693;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.55;SOR=0.789	GT:AD:DP:GQ:PL	0/1:77,51:128:99:1319,0,1835	6	0	1	0
chr9	19082914	19082914	G	A	exonic	HAUS6	.	nonsynonymous SNV	HAUS6:NM_001270890:exon8:c.C829T:p.P277S,HAUS6:NM_017645:exon8:c.C829T:p.P277S	.	.	.	.	.	.	.	.	.	.	.	2764615	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.779	0.333368715769	.	0.00119808	0.0009	0	0	0	0	0	0	0.0069	0.0006921	107	154602	rs199750812	0.0003	0.0004	0.0002	0.0005	0.0059	0.0003	0.0003	0.0054	0.0052	0	0	0	0	0	0.0002	9.359e-07	0.0002	0.0059	0.0001	0.0001	3.857e-05	0.0002	0.0037	7.577e-05	6.282e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	2.62	0.76659	M	-4.07	0.96562	D	-6.75	0.94352	D	0.846	0.84609	1.076	0.98750	D	0.937	0.97917	D	10	0.04056588	0.02637	T	0.333369	0.91814	D	0.779	0.92623	0.568	0.69034	0.991634229972	0.99154	0.5900065035087356	0.58930	0.205483677471	0.22968	0.438342273235	0.30351	T	0.251604	0.71728	T	0.010357	0.53072	T	0.244435	0.85357	D	0.170007786944444	0.18581	T	0.808919	0.47377	T	0.8578715	0.87924	0.8098684	0.88892	0.8578715	0.87925	0.8098684	0.88892	-9.857	0.73051	D	.	.	0.759	0.75438	P	.;.	.;.	4.668752	0.74591	26.2	0.99902992758571607	0.97426	0.94693	0.62006	D	AEFGBI	0.636720	0.61577	D	0.846937218282448	0.88933	9.768699	0.812515154168549	0.90651	10.50474	0.999991470095481	0.74766	0.562547	0.31514	0	0.601575	0.49859	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	7.166000	0.77118	9.921000	0.82504	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.117	0.86569	643	0.63827	.;.	.	.	.	.	.	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	0.000525	0.000000	0.000000	0.003846	0.000000	0.000000	0.000000	0.000000	0.07143	793.45	39	chr9	19082914	.	G	A	793.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.398;DP=241;ExcessHet=0;FS=2.105;MLEAC=1;MLEAF=0.071;MQ=57.36;MQRankSum=0.383;QD=12.59;ReadPosRankSum=-1.635;SOR=0.656	GT:AD:DP:GQ:PL	0/1:29,34:63:99:804,0,617	6	0	1	0
chr9	20414312	20414312	-	CTG	exonic	MLLT3	.	nonframeshift insertion	MLLT3:NM_001286691:exon5:c.524_525insCAG:p.S187_T188insS,MLLT3:NM_004529:exon5:c.533_534insCAG:p.S190_T191insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489057703	0.0011	0.0012	0.0010	0.0013	0.0066	0.0011	0.0011	0.0060	0.0057	0.0021	0.0018	0.0022	0.0066	0.0005	0.0018	0.0006	0.0017	0.0039	0.0034	0.0034	0.0035	0.0033	0.0063	0.0031	0.0030	0.0045	0.0039	0.0046	0	0.0037	0.0051	0.0024	0.0006	0.0070	0.0028	0.0049	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	708.42	39	chr9	20414312	.	A	ACTG	708.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.556;DP=247;ExcessHet=0;FS=1.463;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.15;ReadPosRankSum=-1.794;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,19:37:99:0|1:20414312_A_ACTG:719,0,689:20414312	6	0	1	0
chr9	21206893	21206893	T	G	exonic	IFNA10	.	nonsynonymous SNV	IFNA10:NM_002171:exon1:c.A205C:p.N69H	.	416	1101	5	0	0	5	0.00226552	.	.	.	2259823	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00410439893296	0.0005	0.000599042	0.0002	0.0013	8.643e-05	0.0002	0	6.019e-05	0	0.0004	0.0002264	35	154602	rs1062570	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0009	0.0008	0.0012	0.0003	0	0.0002	5.616e-05	0.0003	0.0001	0.0004	0.0003	0.0004	0.0005	0.0005	0.0003	0.0012	0.0004	0.0003	0.0010	0.0009	0.0012	0	0	0	0.0004	0.0002	0	0.0001	0	0.0008	0.107	0.29554	T	0.167	0.30729	T	0.001	0.07471	B	0.01	0.14941	B	0.121662	0.02731	N	1.616840	1	0.08975	N	1.66	0.42513	L	3.94	0.03408	T	-1.76	0.41618	N	0.103	0.08646	-0.9386	0.42837	T	0.012	0.04605	T	10	0.01213029	0.00262	T	0.004104	0.09806	T	0.023	0.04649	.	.	0.211220785272	0.20719	0.08651359078539322	0.08585	0.0961421984922	0.10851	0.351623892784	0.18161	T	0.001574	0.01012	T	-0.670068	0.00055	T	-0.770661	0.02746	T	0.00514924248679566	0.00056	T	0.0123321	0.00069	T	0.090632014	0.21214	0.041635633	0.04779	0.090632014	0.21214	0.041635633	0.04778	-5.436	0.41265	T	.	.	0.073	0.04764	B	.	.	0.208184	0.05921	2.361	0.91462894195091737	0.20734	0.00935	0.03619	N	AEFI	0.026873	0.02094	N	-1.14072345868966	0.05934	0.2718551	-1.28147562094299	0.04681	0.2213609	0.00412981187260212	0.10426	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.75	-5.86	0.02114	-0.752000	0.04902	.	.	0.406000	0.20596	0.000000	0.06391	0.000000	0.08366	0.799000	0.37691	0.0:0.3099:0.4609:0.2292	6.185	0.19708	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000531	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	3164.44	112	chr9	21206893	.	T	G	3164.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.866;DP=773;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.53;MQRankSum=-0.627;QD=10.95;ReadPosRankSum=0.926;SOR=0.682	GT:AD:DP:GQ:PL	0/1:160,129:289:99:3175,0,4349	6	0	1	0
chr9	33366656	33366656	T	C	exonic	NFX1	.	nonsynonymous SNV	NFX1:NM_001318758:exon22:c.T3070C:p.F1024L,NFX1:NM_002504:exon22:c.T3067C:p.F1023L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.00819909915058	.	.	8.239e-05	0	8.643e-05	0	0	0	0	0.0005	6.47e-05	10	154602	rs779393131	4.378e-05	4.378e-05	6.806e-06	8.113e-05	0.0007	3.509e-05	3.193e-05	0.0006	0.0005	0	0	0	0	0	0	0	0	0.0007	4.595e-05	4.593e-05	0	9.396e-05	0.0014	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.005	0.63226	D	0.011	0.64786	D	0.181	0.29111	B	0.065	0.27321	B	0.000006	0.62929	D	0.110914	0.999999	0.58761	D	1.145	0.29067	L	0.83	0.47815	T	-5.56	0.86296	D	0.746	0.74553	-1.0339	0.19205	T	0.081	0.32002	T	10	0.44660816	0.58436	T	0.008199	0.21725	T	0.242	0.54781	0.624	0.75916	0.514643173473	0.51105	0.6097853858642479	0.60910	0.611504309813	0.55784	0.573382496834	0.49155	T	0.242656	0.61144	T	-0.245018	0.14715	T	-0.240297	0.50771	T	0.362626153163415	0.27512	T	0.915408	0.69775	D	0.52973396	0.68815	0.57451594	0.75353	0.52973396	0.68816	0.57451594	0.75354	-9.633	0.71684	D	.	.	0.991	0.93824	P	.	.	4.010283	0.59151	24.1	0.99858483550296651	0.93729	0.98280	0.81214	D	AEFBI	0.877822	0.80269	D	0.0959241687313661	0.46271	2.870181	0.328180133021998	0.57201	3.885122	0.999999956054624	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	7.986000	0.87787	7.945000	0.75661	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.581	0.67881	434	0.80536	R3H domain|R3H domain|R3H domain|Transcriptional repressor NF-X1, R3H 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	1952.44	36	chr9	33366656	.	T	C	1952.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.094;DP=381;ExcessHet=0;FS=4.139;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.909;SOR=0.467	GT:AD:DP:GQ:PL	0/1:105,87:192:99:1963,0,2599	6	0	1	0
chr9	35906586	35906586	-	CCACCACCACCACCACCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.299_300insCCACCACCACCACCACCACCACCA:p.H105_P106insHHHHHHHH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0009	0.0008	0.0165	0.0008	0.0008	0.0152	0.0147	0.0165	0.0014	0.0070	0	0	0.0020	0.0002	0.0020	0.0009	0.0049	0.0081	0.0049	0.0048	0.0180	0.0044	0.0042	0.0162	0.0155	0.0180	0	0.0025	0.0054	0	0	0	0.0002	0.0038	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2670.03	40	chr9	35906586	.	T	TCCACCACCACCACCACCACCACCA	2670.03	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.631;DP=255;ExcessHet=1.383;FS=0.714;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.63;ReadPosRankSum=-0.001;SOR=0.833	GT:AD:DP:GQ:PL	0/1:7,6:13:99:262,0,289	5	0	1	1
chr9	41920303	41920303	G	A	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon18:c.C2762T:p.T921M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1424906115	0.0003	0.0004	0.0003	0.0003	0.0024	0.0003	0.0002	0.0017	0.0015	0.0024	0.0002	7.127e-05	6.288e-05	0.0005	0.0005	0.0002	0.0004	0.0002	0.0013	0.0041	0.0012	0.0013	0.0039	0.0011	0.0011	0.0034	0.0032	0.0039	0	0.0007	0	0.0006	0.0004	0	0.0003	0.0019	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.635	0.64818	.	.	.	.	.	.	.	0.46516037	0.59525	T	.	.	.	.	.	.	.	.	.	0.5963144222418952	0.59561	.	.	.	.	.	0.367909	0.73290	T	.	.	.	.	.	.	.	.	.	0.963304	0.86380	D	.	.	.	.	.	.	.	.	-10.079	0.74383	D	.	.	0.156	0.34580	B	.	.	4.906694	0.80697	27.4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.658000	0.90860	11.431000	0.92740	0.340000	0.19754	1.000000	0.71638	1.000000	0.68203	0.642000	0.32476	.	.	.	994	0.00715	Laminin G domain|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	.	.	.	.	.	.	.	.	0.08333	100.27	16	chr9	41920303	.	G	A	100.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.73;DP=117;ExcessHet=0;FS=2.398;MLEAC=1;MLEAF=0.083;MQ=30.45;MQRankSum=-1.519;QD=8.36;ReadPosRankSum=3.22;SOR=1.609	GT:AD:DP:GQ:PL	0/1:7,5:12:99:110,0,195	5	0	1	1
chr9	77339759	77339759	G	C	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon47:c.G6505C:p.V2169L,VPS13A:NM_001018038:exon48:c.G6622C:p.V2208L,VPS13A:NM_015186:exon48:c.G6622C:p.V2208L,VPS13A:NM_033305:exon48:c.G6622C:p.V2208L	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3719642	Chorea-acanthocytosis	MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.0117795538638	0.0002	.	4.119e-05	0.0004	8.637e-05	0	0	0	0	0	3.23e-05	5	154602	rs150740645	6.841e-06	6.84e-06	8.168e-06	5.501e-06	0.0001	3.46e-06	2.52e-06	3.982e-05	2.373e-05	0.0001	2.236e-05	0	0	0	0	8.993e-07	3.312e-05	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.171e-05	6.727e-05	0.0003	0.0002	0.0004	0	6.547e-05	0	0	0	0	0	0	0	0.096	0.31532	T	0.192	0.45961	T	0.041	0.25584	B	0.067	0.30104	B	0.201392	0.16591	N	0.609310	0.999209	0.21509	N	1.53	0.38800	L	1.03	0.46777	T	-1.7	0.41046	N	0.135	0.29313	-0.9697	0.37262	T	0.131	0.44188	T	10	0.08860928	0.15274	T	0.01178	0.29743	T	0.146	0.38789	.	.	0.285316908763	0.28143	0.24696549058635495	0.24610	0.134183297464	0.15117	0.383172005415	0.22705	T	0.271	0.64340	T	-0.428297	0.01518	T	-0.484245	0.23997	T	0.0171307952605705	0.00458	T	0.89841	0.64815	D	0.06889777	0.15049	0.102289855	0.24512	0.06889777	0.15049	0.102289855	0.24511	-4.409	0.43959	T	.	.	0.179	0.39047	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.029014	0.14089	10.66	0.96251605912455884	0.29186	0.58727	0.30720	D	AEFBI	0.170922	0.29786	N	-0.420122285517372	0.24765	1.339494	-0.3683149602084	0.25948	1.430147	0.00186693373175921	0.08957	0.732398	0.92422	0	0.743671	0.97443	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.96	0.955	0.18725	-0.132000	0.10446	-1.135000	0.06226	0.618000	0.50648	0.529000	0.27181	0.000000	0.08366	1.000000	0.97212	0.5327:0.0:0.4673:0.0	10.079	0.41548	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1745.44	39	chr9	77339759	.	G	C	1745.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.46;DP=389;ExcessHet=0;FS=2.652;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.737;SOR=0.522	GT:AD:DP:GQ:PL	0/1:104,72:176:99:1756,0,2601	6	0	1	0
chr9	78251976	78251976	G	T	exonic	CEP78	.	nonsynonymous SNV	CEP78:NM_001098802:exon9:c.G1141T:p.A381S,CEP78:NM_001330691:exon9:c.G1138T:p.A380S,CEP78:NM_001330693:exon9:c.G1138T:p.A380S,CEP78:NM_001330694:exon9:c.G1138T:p.A380S,CEP78:NM_001349838:exon9:c.G1138T:p.A380S,CEP78:NM_001349839:exon9:c.G1141T:p.A381S,CEP78:NM_001349840:exon9:c.G1141T:p.A381S,CEP78:NM_032171:exon9:c.G1141T:p.A381S	Cone-rod dystrophy and hearing loss, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1943791	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00596844036698	8.3e-05	.	6.141e-05	0.0005	0.0002	0	0	0	0	0	3.88e-05	6	154602	rs182745565	6.185e-06	6.156e-06	6.836e-06	5.528e-06	0.0001	2.91e-06	2.11e-06	5.856e-05	3.762e-05	0.0001	2.253e-05	0	0	0	0	9.03e-07	1.665e-05	1.172e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.662e-05	7.254e-05	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0	0	0	0	0.52	0.07594	T	0.322	0.21210	T	0.004	0.22733	B	0.001	0.18140	B	0.029687	0.25417	N	0.403557	1	0.08975	N	0	0.06538	N	1.79	0.25678	T	0.81	0.02442	N	0.125	0.17002	-1.0139	0.25688	T	0.029	0.12453	T	10	0.027872562	0.00926	T	0.005968	0.15579	T	0.033	0.08068	.	.	0.262662153117	0.25859	0.18036130402111727	0.17955	0.0150787792604	0.01433	0.282303452492	0.07816	T	0.019226	0.15359	T	-0.526546	0.00403	T	-0.67605	0.07227	T	0.0115654496665437	0.00175	T	0.844715	0.54241	T	0.017290775	0.00260	0.02809413	0.01015	0.017290775	0.00260	0.02809413	0.01015	-2.975	0.09914	T	0.09601845457001558	0.06600	0.083	0.10256	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.943263	0.13190	9.691	0.89214508290491379	0.18606	0.64659	0.32479	D	AEFGBI	0.116301	0.22831	N	-0.935991464037209	0.10009	0.4763248	-0.830817103446512	0.13749	0.7149574	0.439947495072728	0.20444	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.86	2.89	0.32713	1.602000	0.36393	2.211000	0.31368	-0.956000	0.02005	0.981000	0.35396	0.971000	0.29754	0.002000	0.04165	0.3353:0.0:0.6647:0.0	9.025	0.35384	963	0.08280	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	877.53	38	chr9	78251976	.	G	T	877.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.656;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.646;SOR=0.627	GT:AD:DP:GQ:PL	0/1:27,40:67:99:888,0,587	6	0	1	0
chr9	91733329	91733329	G	A	exonic	ROR2	.	nonsynonymous SNV	ROR2:NM_001318204:exon6:c.C730T:p.R244W,ROR2:NM_004560:exon6:c.C730T:p.R244W	Brachydactyly, type B1, Autosomal dominant;Robinow syndrome, autosomal recessive, Autosomal recessive	0	1495	25	2	0	29	0.00960583	.	.	.	195337	not_provided|not_specified|Brachydactyly_type_B1|Autosomal_recessive_Robinow_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000,Orphanet:572385,Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310,Orphanet:1507,Orphanet:97360	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.439	0.362513514246	0.0002	0.000998403	0.0007	0.0008	8.872e-05	0	0	0.0001	0.0012	0.0039	0.0005886	91	154602	rs148340413	0.0004	0.0004	0.0003	0.0005	0.0044	0.0003	0.0003	0.0040	0.0039	0.0008	2.239e-05	0.0009	2.521e-05	0	0.0017	6.297e-05	0.0005	0.0044	0.0004	0.0004	0.0003	0.0006	0.0031	0.0003	0.0003	0.0019	0.0015	0.0008	0	0.0001	0.0012	0	0	0.0136	0.0001	0.0005	0.0031	0.012	0.57480	D	0.017	0.60337	D	0.999	0.77913	D	0.892	0.63276	P	0.001794	0.37998	N	0.000000	0.999954	0.52396	D	2.045	0.56016	M	0.52	0.76948	T	-2.55	0.56787	D	0.61	0.62696	0.005	0.82359	D	0.484	0.80340	T	10	0.01230076	0.00265	T	0.362514	0.92547	D	0.439	0.74306	.	.	0.859866251809	0.85851	0.838114866016235	0.83771	0.698091119569	0.60947	0.704073190689	0.67733	T	0.250856	0.82480	T	-0.125074	0.32295	T	0.047419	0.73414	D	0.0529465971764733	0.06009	T	0.968203	0.88468	D	0.2898495	0.51979	0.25258657	0.50890	0.42745498	0.62586	0.27057996	0.52949	-12.157	0.85608	D	0.5981406214832092	0.66508	0.11	0.26419	B	.;.	.;.	4.396289	0.67894	25.2	0.99904933528149709	0.97576	0.31554	0.24366	N	AEFDBI	0.618170	0.60408	D	0.117291549978265	0.47271	2.955036	0.0196603351604151	0.40628	2.427744	0.0295610579357581	0.13893	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.44	2.38	0.28415	0.315000	0.19200	2.207000	0.31336	0.586000	0.30580	0.001000	0.13787	0.264000	0.24003	0.682000	0.33600	0.0:0.0:0.7148:0.2852	14.043	0.64208	815	0.41851	Frizzled domain|Frizzled domain;Frizzled domain|Frizzled domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002523	0.000000	0.001359	0.005848	0.000000	0.008621	0.000000	0.003817	0.07143	1602.44	46	chr9	91733329	.	G	A	1602.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.382;DP=378;ExcessHet=0;FS=0.607;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.243;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,71:149:99:1|0:91733326_T_C:1613,0,2976:91733326	6	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4599.95	248	chr9	92080918	.	G	C	4599.95	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.454;DP=1972;ExcessHet=14.2834;FS=456.727;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.555;SOR=12.059	GT:AD:DP:GQ:PL	0/1:214,147:377:99:885,0,3175	0	0	7	0
chr9	92268247	92268247	C	T	exonic	IARS1	.	nonsynonymous SNV	IARS1:NM_001374299:exon14:c.G1358A:p.R453H,IARS1:NM_001374300:exon14:c.G1358A:p.R453H,IARS1:NM_001374301:exon14:c.G1358A:p.R453H,IARS1:NM_001378569:exon14:c.G1421A:p.R474H,IARS1:NM_001378571:exon14:c.G1379A:p.R460H,IARS1:NM_001378572:exon14:c.G1358A:p.R453H,IARS1:NM_001378573:exon14:c.G1358A:p.R453H,IARS1:NM_001378577:exon14:c.G1358A:p.R453H,IARS1:NM_001378578:exon14:c.G1358A:p.R453H,IARS1:NM_001378579:exon14:c.G1358A:p.R453H,IARS1:NM_001378582:exon14:c.G1358A:p.R453H,IARS1:NM_001378583:exon14:c.G1235A:p.R412H,IARS1:NM_001378584:exon14:c.G1358A:p.R453H,IARS1:NM_001378585:exon14:c.G1358A:p.R453H,IARS1:NM_001378586:exon14:c.G1358A:p.R453H,IARS1:NM_002161:exon14:c.G1358A:p.R453H,IARS1:NM_013417:exon14:c.G1358A:p.R453H,IARS1:NM_001378574:exon15:c.G1358A:p.R453H,IARS1:NM_001378575:exon15:c.G1358A:p.R453H,IARS1:NM_001378576:exon15:c.G1358A:p.R453H,IARS1:NM_001378580:exon15:c.G1358A:p.R453H	.	429	1091	1	1	0	3	0.001373	.	.	.	626190	Growth_retardation,_intellectual_developmental_disorder,_hypotonia,_and_hepatopathy|not_provided	MONDO:MONDO:0014911,MedGen:C4310720,OMIM:617093,Orphanet:541423|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.073	0.0235337561194	.	0.000998403	0.0008	0	0.0002	0	0	4.496e-05	0.0033	0.0057	0.0006986	108	154602	rs570962385	0.0004	0.0004	0.0002	0.0006	0.0060	0.0003	0.0003	0.0055	0.0054	2.995e-05	0	0	0.0002	0	0.0009	9.897e-06	0.0002	0.0060	0.0002	0.0002	3.854e-05	0.0003	0.0046	0.0001	8.71e-05	0.0031	0.0026	0	0	0	0	0	0	0	1.47e-05	0	0.0046	0.113	0.34269	T	0.141	0.33442	T	0.054	0.22658	B	0.073	0.28123	B	0.000007	0.62929	N	0.148106	1	0.81001	D	1.515	0.38264	L	1.78	0.25678	T	-3.25	0.65283	D	0.414	0.46555	-1.0838	0.06628	T	0.066	0.27156	T	10	0.022054732	0.00541	T	0.023534	0.46505	T	0.073	0.21317	0.628	0.76366	0.31501682445	0.31101	0.7395526666740663	0.73900	0.15527917004	0.17530	0.451471626759	0.32145	T	0.40213	0.75924	T	-0.526656	0.00402	T	-0.527501	0.19537	T	0.115462177042962	0.13981	T	0.933007	0.74900	D	0.0889349	0.20763	0.12902352	0.31031	0.10052337	0.23737	0.13808978	0.32988	-8.794	0.66361	D	.	.	0.103	0.18580	B	.;.;.	.;.;.	2.889152	0.38257	20.7	0.99054215842359528	0.51321	0.84615	0.43699	D	AEFBCI	0.142811	0.26534	N	-0.322035103051441	0.28313	1.560611	-0.221302402650073	0.30773	1.735616	0.955260418254957	0.28179	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	2.01	0.25568	3.347000	0.51915	-0.232000	0.10668	-0.176000	0.10722	0.997000	0.40164	0.003000	0.18671	0.992000	0.67800	0.0:0.7467:0.0:0.2533	10.743	0.45361	946	0.12043	Aminoacyl-tRNA synthetase, class Ia;Aminoacyl-tRNA synthetase, class Ia;Aminoacyl-tRNA synthetase, class Ia	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	529.83	33	chr9	92268247	.	C	T	529.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.03;DP=181;ExcessHet=0;FS=1.243;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.21;SOR=1.127	GT:AD:DP:GQ:PL	0/1:20,20:40:99:540,0,397	6	0	1	0
chr9	96819368	96819368	C	G	exonic	ZNF782	.	nonsynonymous SNV	ZNF782:NM_001346993:exon4:c.G583C:p.E195Q,ZNF782:NM_001346995:exon4:c.G259C:p.E87Q,ZNF782:NM_001346991:exon5:c.G655C:p.E219Q,ZNF782:NM_001001662:exon6:c.G655C:p.E219Q	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0025	0.00299521	0.0009	0.0101	0.0003	0	0	0	0	0.0001	0.0008473	131	154602	rs146614973	0.0003	0.0003	0.0003	0.0002	0.0099	0.0002	0.0002	0.0090	0.0087	0.0099	0.0002	0	0	0	0.0004	2.708e-06	0.0007	5.951e-05	0.0024	0.0024	0.0025	0.0022	0.0081	0.0022	0.0021	0.0074	0.0071	0.0081	0	0.0010	0	0	0	0	0	0.0033	0	0.226	0.18562	T	0.128	0.34959	T	0.131	0.27154	B	0.04	0.23831	B	.	.	.	.	1	0.08975	N	2.365	0.68172	M	3.39	0.05710	T	-1.5	0.36586	N	0.138	0.14196	-1.0281	0.21070	T	0.072	0.29259	T	9	0.0045059323	0.00093	T	.	.	.	0.006	0.00375	.	.	0.471700387322	0.46796	0.03770031381157914	0.03716	0.163663304052	0.18455	0.203140050173	0.00553	T	0.00693	0.06354	T	-0.647505	0.00075	T	-0.69605	0.06044	T	0.00675168158442152	0.00076	T	0.0862914	0.00633	T	0.058470786	0.11766	0.039803408	0.04157	0.058470786	0.11766	0.039803408	0.04157	-5.248	0.39425	T	.	.	0.096	0.15475	B	.;.	.;.	0.614383	0.09830	6.592	0.72691721423744271	0.10061	0.00017	0.00201	N	AEFGBCI	0.055110	0.10079	N	-0.683176799364532	0.16501	0.841282	-0.82312733280386	0.13936	0.7255741	0.00207169072378055	0.09135	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	3.38	1.53	0.22224	-0.640000	0.05537	-1.974000	0.04407	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.344000	0.25523	0.0:0.7756:0.0:0.2244	7.446	0.26380	757	0.50970	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1207.44	33	chr9	96819368	.	C	G	1207.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.481;DP=293;ExcessHet=0;FS=2.516;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.661;SOR=0.626	GT:AD:DP:GQ:PL	0/1:55,50:105:99:1218,0,1419	6	0	1	0
chr9	97320140	97320140	C	G	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon11:c.C1094G:p.P365R,CCDC180:NM_001348010:exon12:c.C1085G:p.P362R	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	.	0.0126	0.0131789	0.0035	0.0387	0.0017	0	0	5.994e-05	0.0011	0.0001	0.0033764	522	154602	rs61261278	0.0011	0.0011	0.0012	0.0009	0.0360	0.0010	0.0010	0.0343	0.0336	0.0360	0.0016	0	0	0	0.0009	9.353e-05	0.0025	0.0001	0.0097	0.0097	0.0106	0.0087	0.0333	0.0093	0.0091	0.0319	0.0313	0.0333	0	0.0035	0	0	0	0	0.0001	0.0118	0.0002	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.000838	0.41547	D	0.139512	0.972226	0.38930	D	.	.	.	1.23	0.36872	T	-6.9	0.93293	D	0.574	0.59648	-0.8931	0.48659	T	0.068	0.27845	T	10	0.0042665303	0.00085	T	.	.	.	0.250	0.55888	.	.	0.668895562322	0.66610	0.30165273345532084	0.30078	.	.	0.443944185972	0.31116	T	.	.	.	-0.275671	0.11131	T	-0.141599	0.59979	T	0.0536525708291464	0.06130	T	0.761624	0.38671	T	0.70147955	0.78137	0.6702592	0.80653	0.70147955	0.78138	0.6702592	0.80654	-10.335	0.75893	D	.	.	0.413	0.60291	A	.	.	4.145315	0.62139	24.4	0.98624964172202478	0.43825	0.85684	0.44843	D	AEFI	0.264226	0.38161	N	0.521190482005497	0.68343	5.204289	0.443092555704238	0.64273	4.678925	0.999956581609142	0.48110	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.87	4.87	0.62877	2.330000	0.43544	5.880000	0.50633	0.599000	0.40250	0.964000	0.33853	1.000000	0.68203	0.632000	0.32210	0.0:1.0:0.0:0.0	14.219	0.65356	778	0.48011	Domain of unknown function DUF4455	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.002717	0.005848	0.000000	0.017241	0.000000	0.003788	0.07143	1794.63	38	chr9	97320140	.	C	G	1794.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.981;DP=385;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.101;SOR=0.732	GT:AD:DP:GQ:PL	0/1:110,79:189:99:1805,0,2705	6	0	1	0
chr9	97362278	97362278	C	T	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon28:c.C3739T:p.R1247W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	.	0.0033	0.00379393	0.0009	0.0104	0.0003	0	0	1.499e-05	0	0.0001	0.000925	143	154602	rs115326222	0.0003	0.0003	0.0004	0.0003	0.0128	0.0003	0.0003	0.0118	0.0114	0.0128	0.0003	0	0	0	0.0002	8.993e-06	0.0008	6.956e-05	0.0031	0.0031	0.0029	0.0033	0.0106	0.0029	0.0028	0.0098	0.0095	0.0106	0	0.0015	0	0.0002	0	0	2.94e-05	0.0019	0	0.031	0.45039	D	0.004	0.74150	D	.	.	.	.	.	.	0.010111	0.01264	N	2.780080	1	0.08975	N	.	.	.	2.85	0.10578	T	-0.41	0.14000	N	0.156	0.16168	-0.9955	0.31164	T	0.013	0.05081	T	9	0.0036231875	0.00066	T	.	.	.	0.002	0.00045	.	.	0.0954503805726	0.09146	0.13319457455394312	0.13243	.	.	0.170628339052	0.00034	T	.	.	.	-0.757295	0.00016	T	-0.851183	0.00945	T	0.00982056333472796	0.00129	T	0.407359	0.10471	T	0.049658857	0.08852	0.03408172	0.02413	0.049658857	0.08852	0.03408172	0.02412	-5.043	0.37304	T	.	.	0.111	0.21541	B	.	.	0.335872	0.07097	3.669	0.92186701807256333	0.21553	0.02831	0.07574	N	AEFDBCI	0.052833	0.09466	N	-1.56453725827195	0.01451	0.06333008	-1.64696124635705	0.01392	0.06288304	0.999679925037482	0.41644	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.12	-4.91	0.02857	-0.935000	0.04059	-2.144000	0.04148	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.2517:0.1394:0.609	7.321	0.25703	719	0.55657	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2363.44	35	chr9	97362278	.	C	T	2363.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.35;DP=355;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=0.032;SOR=0.692	GT:AD:DP:GQ:PL	0/1:69,94:163:99:2374,0,1472	6	0	1	0
chr9	97370021	97370021	C	T	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon32:c.C4289T:p.T1430I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0100487400868	.	0.000199681	9.117e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs571225137	2.736e-05	2.736e-05	1.225e-05	4.263e-05	0.0004	2.062e-05	1.816e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.311e-05	0.0004	2.626e-05	2.625e-05	0	5.371e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.232	0.18184	T	0.35	0.17478	T	.	.	.	.	.	.	0.818886	0.06872	N	1.089090	1	0.08975	N	.	.	.	0.9	0.45248	T	-2.08	0.47514	N	0.247	0.27910	-1.0304	0.20325	T	0.045	0.19275	T	10	0.035218745	0.01761	T	0.010049	0.26124	T	0.009	0.00846	.	.	0.0920862733494	0.08535	0.029607806722319458	0.02909	.	.	0.340997219086	0.16587	T	.	.	.	-0.521799	0.00429	T	-0.665338	0.07911	T	0.0250688493251801	0.01282	T	0.518348	0.16810	T	0.049443565	0.08779	0.046147782	0.06366	0.049443565	0.08779	0.046147782	0.06366	-4.183	0.26505	T	.	.	0.101	0.17615	B	.	.	0.769479	0.11396	8.006	0.51706251209913323	0.04612	0.02580	0.07131	N	AEFDBI	0.060712	0.11557	N	-1.22795896091743	0.04598	0.2078744	-1.23549043916825	0.05349	0.2546582	0.0399162634752865	0.14415	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.567892	0.33627	0	.	.	5.31	-1.51	0.08207	-0.237000	0.09007	-0.211000	0.10853	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5143:0.279:0.1265:0.0801	4.191	0.09879	721	0.55360	Domain of unknown function DUF4456	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1858.46	42	chr9	97370021	.	C	T	1858.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.035;DP=317;ExcessHet=0;FS=1.509;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-0.941;SOR=0.856	GT:AD:DP:GQ:PL	0/1:47,72:119:99:1869,0,1063	6	0	1	0
chr9	97654910	97654910	C	T	exonic	NCBP1	.	nonsynonymous SNV	NCBP1:NM_001351507:exon11:c.C91T:p.R31C,NCBP1:NM_001351504:exon12:c.C1000T:p.R334C,NCBP1:NM_001351505:exon12:c.C631T:p.R211C,NCBP1:NM_001351506:exon12:c.C631T:p.R211C,NCBP1:NM_002486:exon12:c.C1201T:p.R401C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.0167994664598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-07	1.368e-06	1.363e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	.	.	.	-6.96	0.93509	D	0.754	0.75283	0.209	0.86062	D	0.554	0.83700	D	9	0.94592524	0.93918	D	0.016799	0.38225	T	0.609	0.84666	0.865	0.96050	0.705078030891	0.70251	0.7388851984046643	0.73833	2.14787012737	0.95294	0.884774327278	0.94594	D	0.45031	0.79147	T	0.282271	0.81509	D	0.167687	0.81272	D	0.995773732662201	0.88045	D	0.982502	0.94093	D	0.85045004	0.87369	0.71764207	0.83332	0.85045004	0.87370	0.71764207	0.83333	-10.474	0.76697	D	.	.	0.886	0.81814	P	.	.	5.172118	0.86691	29.0	0.99929537262346346	0.99279	0.96822	0.71126	D	AEFGBI	0.765848	0.70220	D	0.799966842863049	0.86102	8.779395	0.726548011047735	0.84395	8.279797	0.999740495048375	0.42466	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.78	4.78	0.60666	4.541000	0.60381	5.943000	0.51513	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.288	0.90062	736	0.53558	MIF4G-like, type 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1096.83	33	chr9	97654910	.	C	T	1096.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.23;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.69;SOR=0.656	GT:AD:DP:GQ:PL	0/1:51,48:99:99:1107,0,1172	6	0	1	0
chr9	103004792	103004792	C	T	exonic	CYLC2	.	nonsynonymous SNV	CYLC2:NM_001340:exon4:c.C278T:p.A93V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.012404367441	0.0015	0.000798722	0.0011	0.0003	0.0002	0	0.0008	0.0017	0.0011	0.0004	0.0012096	187	154602	rs145110008	0.0024	0.0024	0.0024	0.0023	0.0029	0.0023	0.0023	0.0028	0.0028	0.0003	0.0003	0.0009	0	0.0008	0.0002	0.0029	0.0025	0.0003	0.0015	0.0015	0.0017	0.0012	0.0027	0.0013	0.0012	0.0024	0.0023	0.0004	0	0.0004	0.0009	0	0.0008	0	0.0027	0.0014	0.0002	0.033	0.44358	D	0.071	0.43531	T	1.0	0.90584	D	0.996	0.84481	D	0.000606	0.42945	D	0.000000	0.637726	0.32847	D	2.79	0.81396	M	1.66	0.27486	T	-2.72	0.57920	D	0.607	0.62442	-0.5495	0.66806	T	0.184	0.53300	T	10	0.028315753	0.00965	T	0.012404	0.30939	T	0.207	0.49555	.	.	0.269558022972	0.26553	0.05087525527710861	0.05029	0.00723959709662	0.00633	0.432442367077	0.29542	T	0.102642	0.41056	T	-0.38465	0.02911	T	-0.328977	0.41583	T	0.0411315024657942	0.03896	T	0.823018	0.48339	T	0.23421179	0.46238	0.26053193	0.51817	0.23421179	0.46238	0.26053193	0.51816	-3.83	0.21253	T	.	.	0.871	0.81319	P	.;.;.	.;.;.	4.388470	0.67704	25.1	0.99916231618210127	0.98449	0.82199	0.41463	D	AEFI	0.323456	0.42564	N	0.6585875637896	0.76926	6.577267	0.600958107437743	0.75009	6.235423	0.0137651735540973	0.12507	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.53	4.53	0.55009	3.740000	0.54802	6.807000	0.56640	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	12.975	0.57933	506	0.75555	Cylicin, N-terminal;Cylicin, N-terminal;Cylicin, 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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1106.27	34	chr9	103004792	.	C	T	1106.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.584;DP=254;ExcessHet=0;FS=5.586;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.317;SOR=0.308	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1116,0,914	5	0	1	1
chr9	105365554	105365554	C	T	exonic	SLC44A1	.	nonsynonymous SNV	SLC44A1:NM_001286730:exon11:c.C1325T:p.T442M,SLC44A1:NM_001330731:exon11:c.C1325T:p.T442M,SLC44A1:NM_080546:exon11:c.C1325T:p.T442M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.786	0.09428313461	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs765808925	1.165e-05	1.232e-05	8.186e-06	1.515e-05	0.0002	7.1e-06	5.8e-06	9.799e-05	7.844e-05	0	0	0	0	0	0	2.704e-06	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	1.63	0.28002	T	-4.51	0.78222	D	0.982	0.99181	-0.5679	0.66099	T	0.252	0.62142	T	10	0.9686228	0.96402	D	0.094283	0.76224	D	0.786	0.92908	0.861	0.95829	0.604808694882	0.60165	0.8684455969637402	0.86809	1.09336094306	0.77502	0.872319638729	0.92899	D	0.344413	0.71293	T	0.142455	0.68558	D	0.169504	0.81381	D	0.923187589294888	0.58370	D	0.965953	0.90409	D	0.45163223	0.64144	0.5699551	0.75100	0.45163223	0.64145	0.5699551	0.75100	-12.942	0.89447	D	.	.	0.935	0.89465	P	.;.;.	.;.;.	5.699555	0.93107	33	0.999380981786128	0.99698	0.98645	0.85080	D	AEFGBI	0.930881	0.91885	D	0.945187350397598	0.93791	12.27973	0.915998397647704	0.96232	14.45246	0.999999999999997	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	7.905000	0.86479	7.624000	0.62436	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.106	0.97895	963	0.08280	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	776.27	29	chr9	105365554	.	C	T	776.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=234;ExcessHet=0;FS=0.928;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.559;SOR=0.557	GT:AD:DP:GQ:PL	0/1:35,32:67:99:786,0,803	5	0	1	1
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	647.45	71	chr9	106974250	.	T	C	647.45	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-3.424;DP=793;ExcessHet=6.1542;FS=213.033;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=2.55;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:134,55:189:99:.:.:172,0,2421:.	0	0	5	2
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_001136562:exon2:c.G815C:p.R272T,PALM2AKAP2:NM_001198656:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_007203:exon8:c.G1508C:p.R503T,PALM2AKAP2:NM_147150:exon8:c.G1508C:p.R503T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	623.16	28	chr9	110137052	.	G	C	623.16	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-0.079;DP=278;ExcessHet=0.4139;FS=138.611;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=4.52;ReadPosRankSum=2.2;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,21:66:99:.:.:370,0,1479:.	2	0	2	3
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_001136562:exon2:c.G817A:p.A273T,PALM2AKAP2:NM_001198656:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_007203:exon8:c.G1510A:p.A504T,PALM2AKAP2:NM_147150:exon8:c.G1510A:p.A504T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	518.8	28	chr9	110137054	.	G	A	518.8	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.248;DP=291;ExcessHet=0.3476;FS=128.322;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=4.05;ReadPosRankSum=1.88;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,11:63:99:.:.:267,0,1492:.	3	0	2	2
chr9	110407688	110407688	C	T	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon38:c.G7912A:p.D2638N	.	421	1062	36	3	0	42	0.0193906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	0.0009	0.00419329	0.0039	0.0002	0.0009	0	0	0.0016	0.0022	0.0211	0.0033699	521	154602	rs150389025	0.0022	0.0022	0.0016	0.0028	0.0190	0.0022	0.0021	0.0182	0.0179	8.961e-05	0.0012	0.0036	5.038e-05	0.0001	0.0088	0.0011	0.0027	0.0190	0.0016	0.0016	0.0013	0.0020	0.0188	0.0015	0.0014	0.0157	0.0146	7.216e-05	0.0175	0.0006	0.0023	0	0	0.0102	0.0017	0.0028	0.0188	.	.	.	0.156	0.31833	T	0.09	0.25173	B	0.051	0.25434	B	0.137757	0.18402	N	0.581714	1	0.08975	N	1.95	0.52479	M	.	.	.	.	.	.	0.179	0.19325	-0.8995	0.48044	T	0.210	0.56973	T	10	0.002509147	0.00038	T	.	.	.	0.184	0.45763	.	.	0.043077524339	0.03247	0.2620463983057441	0.26117	0.121745610629	0.13719	0.28997734189	0.08920	T	0.011709	0.10405	T	-0.438756	0.01315	T	-0.387424	0.34853	T	0.0170388723119597	0.00452	T	0.806319	0.45525	T	0.07042702	0.15511	0.064716496	0.13012	0.07042702	0.15511	0.064716496	0.13012	-4.035	0.24326	T	.	.	0.079	0.07318	B	.;.	.;.	1.640661	0.20938	14.98	0.9681063104756773	0.31187	0.29024	0.23712	N	AEFGBI	0.213469	0.33904	N	-0.524122409655037	0.21302	1.129493	-0.48544654266276	0.22554	1.225571	0.0590270227794336	0.15147	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	1.585000	0.36210	3.945000	0.40631	0.547000	0.25779	0.396000	0.26137	0.999000	0.35428	0.078000	0.17132	0.0:0.7881:0.1376:0.0743	10.073	0.41516	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.004076	0.008772	0.000000	0.008621	0.012195	0.015152	0.07143	1997.44	46	chr9	110407688	.	C	T	1997.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.002;DP=394;ExcessHet=0;FS=1.307;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-1.252;SOR=0.855	GT:AD:DP:GQ:PL	0/1:70,76:146:99:2008,0,1851	6	0	1	0
chr9	114356878	114356878	C	T	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon12:c.G2474A:p.R825Q,AKNA:NM_001317950:exon13:c.G2831A:p.R944Q,AKNA:NM_030767:exon13:c.G2831A:p.R944Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00993535124215	.	.	1.671e-05	0	0	0	0	1.512e-05	0	6.477e-05	1.29e-05	2	154602	rs769607216	1.426e-05	1.573e-05	9.921e-06	1.865e-05	3.892e-05	9.31e-06	7.57e-06	1.034e-05	7.77e-06	0	0	0	0	0	0	1.56e-05	0	3.892e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27080	T	0.106	0.37872	T	0.917	0.50750	P	0.105	0.33681	B	0.007053	0.31632	N	0.148462	0.775625	0.29389	N	1.87	0.49600	L	2.64	0.15492	T	-2.24	0.50830	N	0.414	0.45426	-1.0711	0.09173	T	0.025	0.10733	T	10	0.23101202	0.40066	T	0.009935	0.25856	T	0.072	0.21020	0.252	0.19067	0.707253505956	0.70470	0.10636751150769609	0.10566	0.434792675804	0.43605	0.323565304279	0.13962	T	0.012546	0.11008	T	-0.147872	0.28646	T	-0.450185	0.27678	T	0.661053836345673	0.38942	D	0.782222	0.41780	T	0.08095024	0.18576	0.08296759	0.18977	0.08095024	0.18576	0.08296759	0.18976	-4.072	0.28789	T	.	.	0.086	0.20934	B	.;.;.;.	.;.;.;.	2.718638	0.35558	19.93	0.99924644736892165	0.98980	0.52516	0.29150	D	AEFBCI	0.071281	0.14184	N	0.0462454656426941	0.43969	2.679678	0.107914559752747	0.44951	2.767196	0.999942241877271	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	3.42	0.38259	0.243000	0.17880	1.049000	0.23621	0.599000	0.40250	0.861000	0.30630	0.559000	0.25510	0.913000	0.44837	0.0:0.8077:0.0:0.1923	7.559	0.27010	693	0.58582	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	901.49	33	chr9	114356878	.	C	T	901.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.592;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.889;SOR=0.595	GT:AD:DP:GQ:PL	0/1:38,38:76:99:912,0,897	6	0	1	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	.	.	.	.	.	.	.	.	0.3	525.18	104	chr9	114406374	.	C	G	525.18	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.975;DP=914;ExcessHet=1.1394;FS=125.612;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.699;SOR=9.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:142,44:186:99:.:.:182,0,2415:.	2	0	3	2
chr9	120820879	120820879	G	T	exonic	PSMD5	.	nonsynonymous SNV	PSMD5:NM_001270427:exon8:c.C1088A:p.P363H,PSMD5:NM_005047:exon9:c.C1217A:p.P406H	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.108736686907	.	0.000199681	5.881e-05	0.0007	0	0	0	0	0	0	5.17e-05	8	154602	rs186841024	2.338e-05	2.531e-05	2.464e-05	2.211e-05	0.0008	1.683e-05	1.485e-05	0.0006	0.0005	0.0008	4.821e-05	0	0	0	0.0005	0	3.332e-05	0	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0001	0.0006	0.0005	0.0008	0	6.542e-05	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	2.565	0.75005	M	0.4	0.57261	T	-8.03	0.96581	D	0.952	0.96072	-0.2147	0.77292	T	0.403	0.75352	T	10	0.81415653	0.80671	D	0.108737	0.78540	D	0.734	0.90721	.	.	0.937990821845	0.93734	0.6789525409665553	0.67834	0.50988881724	0.49125	0.693000793457	0.66136	T	0.387966	0.74876	T	0.0640077	0.60112	T	0.25169	0.85702	D	0.898459851741791	0.55056	D	0.908009	0.67517	D	0.8798967	0.89658	0.87159747	0.92976	0.8798967	0.89659	0.87159747	0.92977	-10.228	0.77568	D	.	.	0.825	0.79706	P	.;.;.	.;.;.	5.039546	0.83867	28.2	0.99723239762300386	0.82195	0.99568	0.97532	D	AEFDGBHI	0.860047	0.77784	D	0.988287138587022	0.95373	13.55803	0.967493603082054	0.97892	16.97886	0.99999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	9.223000	0.94355	11.615000	0.93574	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	19.427	0.94738	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	.	.	.	.	.	.	.	.	0.07143	616.63	40	chr9	120820879	.	G	T	616.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.233;DP=226;ExcessHet=0;FS=1.007;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.148;SOR=0.735	GT:AD:DP:GQ:PL	0/1:30,28:58:99:627,0,667	6	0	1	0
chr9	121171515	121171515	G	T	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001330762:exon29:c.G4728T:p.Q1576H,CNTRL:NM_007018:exon40:c.G6384T:p.Q2128H	.	430	1090	2	0	0	2	0.00091659	.	.	.	700780	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.136	.	0.0051	0.00359425	0.0012	0.0143	0.0002	0	0	0	0	6.364e-05	0.001119	173	154602	rs144962521	0.0005	0.0005	0.0005	0.0004	0.0164	0.0004	0.0004	0.0152	0.0148	0.0164	0.0006	0	0	0	0.0010	1.169e-05	0.0011	4.639e-05	0.0044	0.0045	0.0044	0.0045	0.0155	0.0042	0.0041	0.0145	0.0141	0.0155	0	0.0016	0	0	0	0	5.88e-05	0.0019	0	0.11	0.29158	T	0.01	0.65728	D	0.996	0.68779	D	0.887	0.62952	P	.	.	.	.	0.999928	0.52935	D	2.725	0.79712	M	1.61	0.35031	T	-1.32	0.32991	N	0.444	0.50598	-1.0087	0.27323	T	0.079	0.31254	T	9	0.005697429	0.00127	T	.	.	.	0.136	0.36778	0.087	0.00904	0.416454006429	0.41261	0.10865653285618719	0.10794	0.309971528438	0.33310	0.395209729671	0.24401	T	0.017111	0.14019	T	-0.481708	0.00723	T	-0.45304	0.27360	T	0.0300734373727408	0.02001	T	0.846915	0.55036	T	0.2016516	0.42183	0.170391	0.39144	0.2016516	0.42183	0.170391	0.39143	-4.971	0.37420	T	.	.	0.206	0.45786	B	.;.;.;.	.;.;.;.	3.940967	0.57670	23.9	0.99752765318311021	0.84382	0.96999	0.72108	D	AEFDGBIJ	0.338269	0.43580	N	0.650894531572157	0.76425	6.484452	0.661833237113745	0.79494	7.094434	0.999999999939843	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.616094	0.41390	0	0.342787	0.05754	3	.	.	5.91	5.91	0.95240	2.356000	0.43770	5.897000	0.50837	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	18.869	0.92277	897	0.25382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	809.27	33	chr9	121171515	.	G	T	809.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.391;DP=242;ExcessHet=0;FS=0.96;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.799;SOR=0.534	GT:AD:DP:GQ:PL	0/1:36,32:68:99:819,0,899	5	0	1	1
chr9	124540183	124540183	G	A	exonic	NR6A1	.	nonsynonymous SNV	NR6A1:NM_001278546:exon5:c.C434T:p.S145L,NR6A1:NM_001489:exon5:c.C434T:p.S145L,NR6A1:NM_033334:exon5:c.C446T:p.S149L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.439710793543	.	.	1.669e-05	0	0	0.0001	0	0	0	6.506e-05	1.94e-05	3	154602	rs535696393	1.096e-05	1.163e-05	8.176e-06	1.377e-05	5.047e-05	6.49e-06	5.25e-06	8.36e-06	4.55e-06	0	0	0	5.047e-05	0	0	1.08e-05	1.657e-05	1.165e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.004	0.68238	D	0.018	0.59732	D	0.894	0.57405	P	0.217	0.49293	B	0.000001	0.84330	D	0.056292	1	0.81001	D	0.975	0.24501	L	-3.14	0.94469	D	-1.71	0.41046	N	0.431	0.47208	0.576	0.91585	D	0.803	0.93351	D	10	0.67038536	0.70677	D	0.439711	0.94141	D	0.449	0.75004	0.33	0.31519	0.660972672452	0.65812	0.5736202807456728	0.57291	0.635511397756	0.57364	0.812	0.83875	D	0.369078	0.73386	T	0.0775062	0.61747	D	0.042684	0.73103	D	0.6258185505867	0.37445	D	0.983802	0.95824	D	0.25181758	0.48193	0.25978473	0.51733	0.25181758	0.48193	0.25978473	0.51732	-10.634	0.78353	D	.	.	0.587	0.75736	P	.;.;.;.;.	.;.;.;.;.	4.970346	0.82252	27.7	0.99853260340874883	0.93279	0.99021	0.90073	D	AEFGBI	0.922083	0.89653	D	0.621590812527392	0.74540	6.150403	0.706101438109237	0.82844	7.868458	0.99999999999999	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	5.99	5.99	0.97299	9.317000	0.95419	11.745000	0.95278	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.466	0.94931	742	0.52873	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1652.46	33	chr9	124540183	.	G	A	1652.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=300;ExcessHet=0;FS=0.71;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.362;SOR=0.787	GT:AD:DP:GQ:PL	0/1:50,66:116:99:1663,0,1125	6	0	1	0
chr9	128091952	128091952	G	A	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006642:exon1:c.G82A:p.E28K,SLC25A25:NM_001265614:exon1:c.G82A:p.E28K	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	.	0.0073	0.00599042	0.0017	0.0199	0.0009	0	0	0	0.0011	0.0002	0.0017141	265	154602	rs115942384	0.0007	0.0007	0.0008	0.0006	0.0234	0.0006	0.0006	0.0221	0.0215	0.0234	0.0012	0.0003	2.519e-05	0	0.0016	1.799e-05	0.0018	0.0001	0.0060	0.0060	0.0059	0.0061	0.0209	0.0057	0.0055	0.0197	0.0193	0.0209	0	0.0022	0	0	0	0	5.88e-05	0.0043	0	0.126	0.27194	T	0.188	0.30143	T	0.016	0.17332	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	.	.	.	-1.31	0.79666	T	-0.5	0.15782	N	0.18	0.19459	-0.5845	0.65439	T	0.259	0.62923	T	8	0.005258858	0.00115	T	.	.	.	0.281	0.59861	.	.	0.134007934775	0.12933	.	.	.	.	.	.	.	.	.	.	-0.315995	0.07231	T	-0.210425	0.53654	T	0.0127592617000643	0.00216	T	0.663034	0.27207	T	.	.	.	.	.	.	.	.	-4.49	0.30915	T	.	.	0.101	0.17700	B	.;.	.;.	2.250856	0.28748	17.90	0.99854575767458043	0.93368	0.94464	0.61249	D	AEFBI	0.526562	0.54887	D	0.0841056772604696	0.45723	2.824031	0.259531296995083	0.53192	3.489514	0.999999999793984	0.74766	0.616025	0.39624	0	0.379588	0.06130	0	0.491513	0.07944	0	0.677038	0.66255	0	.	.	6.07	6.07	0.98675	4.233000	0.58451	7.605000	0.61698	-0.111000	0.15049	1.000000	0.71638	1.000000	0.68203	0.644000	0.32530	0.0:0.0:1.0:0.0	17.800	0.88494	231	0.90996	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1357.83	37	chr9	128091952	.	G	A	1357.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.92;DP=340;ExcessHet=0;FS=2.051;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=1.23;SOR=0.531	GT:AD:DP:GQ:PL	0/1:88,64:152:99:1368,0,2263	6	0	1	0
chr9	128804120	128804120	G	C	splicing	TBC1D13	NM_018201:exon9:c.918+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439285	0.91990	D	0.393226	0.91891	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.584561	0.95441	35	0.9957280974931918	0.72501	0.99430	0.95929	D	AEFGBI	.	.	.	1.23241248562877	0.99791	27.03869	1.09277677016336	0.99751	26.266	0.999999999992227	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.20857	0.04538	0	0.221052	0.04502	0	0.983693	0.90581	5.49	5.49	0.81022	9.724000	0.98010	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	18.369	0.90344	792	0.45996	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1341.83	34	chr9	128804120	.	G	C	1341.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.58;DP=289;ExcessHet=0;FS=0.752;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.5;SOR=0.855	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1352,0,1363	6	0	1	0
chr9	129085541	129085541	G	A	exonic	DOLPP1	.	nonsynonymous SNV	DOLPP1:NM_001135917:exon5:c.G386A:p.R129K,DOLPP1:NM_020438:exon5:c.G386A:p.R129K	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.0743553633491	0.0007	0.000599042	0.0002	0.0019	8.676e-05	0	0	0	0	0	0.0001488	23	154602	rs150999812	6.911e-05	6.909e-05	8.306e-05	5.502e-05	0.0026	5.781e-05	5.393e-05	0.0021	0.0020	0.0026	8.948e-05	0	0	0	0	8.993e-07	0.0001	1.16e-05	0.0004	0.0004	0.0003	0.0005	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0001	0	0	0	0	1.47e-05	0.0014	0	0.458	0.08787	T	0.806	0.03993	T	0.659	0.40886	P	0.342	0.42471	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.33	0.33268	L	-0.88	0.74689	T	-0.7	0.19933	N	0.633	0.69913	-0.6512	0.62662	T	0.234	0.60124	T	10	0.036887825	0.02011	T	0.074355	0.72020	D	0.375	0.69358	.	.	0.658450046671	0.65559	0.7571738344946951	0.75665	1.59136320463	0.88531	0.905649900436	0.97042	D	0.411065	0.76562	T	-0.164074	0.26134	T	-0.0330847	0.68164	D	0.0632587929838585	0.07672	T	0.907009	0.67748	D	0.23722832	0.46584	0.2341905	0.48629	0.23722832	0.46584	0.2341905	0.48628	-5.812	0.53909	T	.	.	0.240	0.53595	B	.;.	.;.	3.918568	0.57191	23.8	0.99340690755014305	0.60170	0.99457	0.96268	D	AEFBI	0.918293	0.88714	D	0.338529305237908	0.58137	3.98427	0.447322895867337	0.64544	4.712	0.999999999997484	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	9.602000	0.97623	11.732000	0.95017	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.856	0.88677	871	0.31377	Phosphatidic acid phosphatase type 2/haloperoxidase|Phosphatidic acid phosphatase type 2/haloperoxidase|Dolichyldiphosphatase, PAP2 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	1632.49	34	chr9	129085541	.	G	A	1632.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.31;DP=272;ExcessHet=0;FS=1.969;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=-0.128;SOR=1.04	GT:AD:DP:GQ:PL	0/1:26,62:88:99:1643,0,542	6	0	1	0
chr9	129613547	129613547	C	T	exonic	C9orf50	.	nonsynonymous SNV	C9orf50:NM_199350:exon5:c.G931A:p.E311K	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00753306616956	.	0.000199681	4.123e-05	9.628e-05	0	0.0003	0	0	0	6.057e-05	3.88e-05	6	154602	rs547056212	1.984e-05	1.984e-05	2.042e-05	1.925e-05	0.0004	1.392e-05	1.203e-05	0.0002	0.0002	0	2.236e-05	3.826e-05	0.0004	0	0	6.295e-06	3.312e-05	4.638e-05	3.283e-05	3.281e-05	6.424e-05	0	0.0006	1.26e-05	7.97e-06	0.0002	8.391e-05	0	0	6.535e-05	0	0.0006	0	0	0	0	0.0002	0.035	0.43708	D	0.037	0.51737	D	0.887	0.48784	P	0.099	0.30579	B	0.166023	0.17516	N	0.416632	1	0.08975	N	0.55	0.14455	N	2.23	0.18083	T	-2.81	0.59389	D	0.189	0.20660	-1.0003	0.29831	T	0.020	0.08360	T	10	0.042327553	0.02971	T	0.007533	0.19979	T	0.021	0.04004	0.315	0.29096	0.0297737177859	0.01360	0.06972781522841202	0.06910	0.310570658703	0.33372	.	.	.	0.076515	0.35438	T	-0.43439	0.01396	T	-0.569599	0.15486	T	0.0889866468819518	0.11096	T	0.622538	0.23960	T	0.16322833	0.36451	0.14720137	0.34845	0.16322833	0.36450	0.14720137	0.34844	-2.682	0.07153	T	.	.	0.175	0.38281	B	.	.	2.700296	0.35267	19.85	0.99521127652298658	0.69222	0.04166	0.09660	N	AEFDGBHCI	0.036665	0.04922	N	-0.696763131808565	0.16114	0.8181252	-0.85413108945426	0.13189	0.6828153	0.999997699975531	0.74766	0.446893	0.09132	0	0.578056	0.33634	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	3.27	0.396	0.15532	1.168000	0.31468	1.977000	0.30015	0.587000	0.30956	0.001000	0.13787	0.045000	0.21693	0.001000	0.02609	0.0:0.627:0.0:0.373	5.510	0.16164	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1444.49	35	chr9	129613547	.	C	T	1444.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.799;DP=323;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.241;SOR=0.723	GT:AD:DP:GQ:PL	0/1:78,65:143:99:1455,0,1751	6	0	1	0
chr9	131446557	131446557	C	T	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384818:exon7:c.C770T:p.P257L,PRRC2B:NM_001384821:exon7:c.C770T:p.P257L,PRRC2B:NM_001384822:exon7:c.C770T:p.P257L,PRRC2B:NM_001384823:exon7:c.C770T:p.P257L,PRRC2B:NM_013318:exon7:c.C770T:p.P257L	.	425	1094	3	0	0	3	0.00136924	.	.	.	2224974	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.241	0.00726867715323	0.0002	.	0.0004	0	0	0	0	0.0004	0.0011	0.0015	0.0003622	56	154602	rs369974538	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0002	0.0014	0.0013	8.961e-05	0	0.0052	5.039e-05	1.873e-05	0	4.317e-05	0.0004	0.0016	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	0	0	0	0.0055	0	0	0	4.41e-05	0.0005	0.0010	0.013	0.53900	D	0.01	0.65728	D	1.0	0.90584	D	0.944	0.68059	D	0.144186	0.18186	U	0.387710	1	0.81001	D	2.125	0.59049	M	4.0	0.03239	T	-4.14	0.75220	D	0.626	0.64052	-1.2056	0.00112	T	0.035	0.14857	T	10	0.017169446	0.00365	T	0.007269	0.19280	T	0.241	0.54641	.	.	0.151262610727	0.14761	0.607157583296925	0.60647	0.595305017666	0.54808	0.632656335831	0.57522	T	0.163513	0.50860	T	-0.258235	0.13108	T	-0.173792	0.57095	T	0.127951431385674	0.15191	T	0.965303	0.88539	D	0.2658792	0.49658	0.16375676	0.37971	0.2658792	0.49657	0.16375676	0.37971	-4.393	0.29598	T	.	.	0.181	0.48293	B	.;.;.	.;.;.	4.630017	0.73600	26.0	0.99925076136190349	0.99042	0.99339	0.94716	D	AEFDGBI	0.593750	0.58895	D	0.715833929628471	0.80669	7.346106	0.717194890295445	0.83686	8.086922	0.999999999992887	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.24	5.24	0.72863	5.391000	0.66015	6.016000	0.52721	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.354	0.90290	588	0.69043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2931.44	34	chr9	131446557	.	C	T	2931.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.08;DP=425;ExcessHet=0;FS=1.599;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.425;SOR=0.811	GT:AD:DP:GQ:PL	0/1:106,124:230:99:2942,0,2381	6	0	1	0
chr9	132328524	132328526	TCA	-	exonic	SETX	.	nonframeshift deletion	SETX:NM_001351527:exon10:c.3072_3074del:p.D1024del,SETX:NM_001351528:exon10:c.3072_3074del:p.D1024del,SETX:NM_015046:exon10:c.3072_3074del:p.D1024del	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	441295	Amyotrophic_lateral_sclerosis_type_4|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|SETX-related_disorder|not_specified|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MedGen:CN239403|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	0.00119808	0.0008	0.0004	0	0.0003	0	4.497e-05	0.0011	0.0052	0.0002689	7	26028	rs573705270	0.0004	0.0004	0.0002	0.0006	0.0055	0.0004	0.0003	0.0051	0.0049	0.0004	4.472e-05	0	0.0001	1.878e-05	0.0003	3.328e-05	0.0004	0.0055	0.0002	0.0002	0.0001	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	9.624e-05	0	6.541e-05	0	0.0002	0	0	4.411e-05	0	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1877.4	38	chr9	132328523	.	TTCA	T	1877.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.089;DP=367;ExcessHet=0;FS=6.758;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-2.113;SOR=0.712	GT:AD:DP:GQ:PL	0/1:79,51:130:99:1888,0,3163	6	0	1	0
chr9	133129302	133129302	C	A	exonic	RALGDS	.	nonsynonymous SNV	RALGDS:NM_001271775:exon1:c.G17T:p.G6V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.00199681	0.0008	0.0116	0	0	0	0.0002	0	0	0.0006145	95	154602	rs114920471	0.0003	0.0003	0.0003	0.0003	0.0097	0.0003	0.0003	0.0089	0.0085	0.0097	0.0003	0.0020	0	0	0.0003	1.805e-05	0.0005	3.544e-05	0.0024	0.0024	0.0024	0.0024	0.0081	0.0022	0.0021	0.0074	0.0071	0.0081	0	0.0008	0.0020	0	0	0	4.41e-05	0.0019	0	0.018	0.50676	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.18612	N	.	.	.	1.51	0.30937	T	-0.47	0.15178	N	0.165	0.17416	-1.0295	0.20616	T	0.038	0.16290	T	8	0.0033037066	0.00057	T	.	.	.	0.013	0.01715	.	.	0.281381271821	0.27740	.	.	.	.	0.424880504608	0.28508	T	.	.	.	-0.67772	0.00049	T	-0.739452	0.03914	T	0.0051601270155883	0.00056	T	0.468753	0.13831	T	.	.	.	.	.	.	.	.	-3.993	0.23699	T	.	.	0.117	0.23814	B	.	.	0.174721	0.05632	2.083	0.84121809130895286	0.15109	0.04254	0.09783	N	AEFDGBCI	0.056131	0.10352	N	-1.35551651569299	0.03068	0.1364826	-1.49820612273541	0.02359	0.1083788	0.999999970862871	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.43	-4.9	0.02866	-1.635000	0.02121	-0.501000	0.08802	-0.960000	0.01985	0.009000	0.18154	0.003000	0.18671	0.019000	0.11356	0.4473:0.236:0.0:0.3167	3.276	0.06492	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1874.49	34	chr9	133129302	.	C	A	1874.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.877;DP=341;ExcessHet=0;FS=1.293;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.787;SOR=0.826	GT:AD:DP:GQ:PL	0/1:74,80:154:99:1885,0,1903	6	0	1	0
chr9	136383295	136383295	G	A	exonic	SNAPC4	.	nonsynonymous SNV	SNAPC4:NM_003086:exon15:c.C1874T:p.T625M	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	7.7e-05	0.00539137	0.0025	0	0.0002	0	0	1.716e-05	0.0013	0.0171	0.0019922	308	154602	rs377155459	0.0009	0.0009	0.0005	0.0013	0.0145	0.0009	0.0009	0.0138	0.0135	0	4.479e-05	0	2.52e-05	0	0.0010	1.439e-05	0.0012	0.0145	0.0005	0.0005	0.0002	0.0007	0.0137	0.0004	0.0003	0.0110	0.0101	4.81e-05	0	0	0	0.0004	0	0	0	0	0.0137	0.245	0.17410	T	0.257	0.23231	T	0.022	0.18677	B	0.005	0.11217	B	0.012963	0.01351	N	2.855190	1	0.08975	N	0.69	0.16971	N	1.92	0.23082	T	-0.05	0.07736	N	0.084	0.06059	-1.0521	0.13818	T	0.031	0.13504	T	10	0.0032057464	0.00054	T	.	.	.	0.006	0.00375	.	.	0.0920862733494	0.08535	0.16532376128925305	0.16452	.	.	0.31380045414	0.12481	T	9.69E-4	0.00509	T	-0.671481	0.00054	T	-0.724338	0.04589	T	0.0344286289594964	0.02711	T	0.40306	0.10319	T	0.013030342	0.00048	0.01928769	0.00083	0.013030342	0.00047	0.01928769	0.00083	-5.758	0.44207	T	.	.	0.096	0.15341	B	.	.	-1.457024	0.00322	0.005	0.79313554604540826	0.12685	0.01520	0.05015	N	AEFGBCI	0.017010	0.00418	N	-1.74902547374673	0.00682	0.02943924	-1.87122154081287	0.00557	0.02472472	0.999963562242788	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.37	-8.74	0.00725	-2.296000	0.01223	-6.064000	0.01508	-1.003000	0.01794	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4426:0.2453:0.1204:0.1918	1.586	0.02484	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003817	0.07143	368.63	33	chr9	136383295	.	G	A	368.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.875;DP=217;ExcessHet=0;FS=6.044;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.37;ReadPosRankSum=0.435;SOR=0.63	GT:AD:DP:GQ:PL	0/1:32,18:50:99:379,0,730	6	0	1	0
chr9	137199456	137199456	G	A	exonic	TPRN	.	nonsynonymous SNV	TPRN:NM_001128228:exon1:c.C1256T:p.P419L	Deafness, autosomal recessive 79, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	655956	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0015	0.00239617	0.0049	0.0008	0.0015	0	0.0004	0.0043	0.0043	0.0125	0.0024903	385	154602	rs149753507	0.0024	0.0024	0.0022	0.0026	0.0097	0.0023	0.0023	0.0092	0.0090	0.0002	0.0007	7.708e-05	5.1e-05	0.0003	0.0028	0.0023	0.0014	0.0097	0.0016	0.0016	0.0016	0.0017	0.0072	0.0015	0.0014	0.0054	0.0047	0.0006	0	0.0009	0	0	9.407e-05	0.0034	0.0026	0.0005	0.0072	0.003	0.68238	D	0.027	0.66756	D	0.959	0.55135	D	0.301	0.41090	B	0.131938	0.18605	N	0.451388	0.991112	0.24080	N	1.75	0.45442	L	.	.	.	-2.17	0.49018	N	0.229	0.25745	-0.9848	0.33879	T	0.078	0.31133	T	9	0.0038635433	0.00073	T	.	.	.	0.085	0.24743	.	.	0.134241683229	0.13084	0.3390038826880828	0.33813	.	.	0.406837284565	0.26019	T	0.013847	0.11897	T	-0.385213	0.02887	T	-0.319427	0.42637	T	0.0101801590738123	0.00138	T	0.679332	0.30283	T	0.047417782	0.08101	0.09815122	0.23389	0.06648775	0.14309	0.08869811	0.20696	-4.193	0.26650	T	0.5639274063526069	0.63149	0.103	0.18372	B	.;.	.;.	3.246163	0.44328	21.9	0.99679859853542863	0.79174	0.11340	0.16569	N	AEFDGBHCI	0.080201	0.16210	N	-0.185639922118141	0.33731	1.917103	-0.323299599580389	0.27347	1.516871	0.999997072495709	0.74766	0.766844	0.99359	0	0.685571	0.66316	0	0.851219	0.99655	0	0.604282	0.37693	0	.	.	3.47	2.49	0.29274	1.018000	0.29604	8.154000	0.76719	0.586000	0.30580	0.001000	0.13787	1.000000	0.68203	0.107000	0.18608	0.0:0.0:0.757:0.243	7.942	0.29127	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	1	0	0.003033	0.000000	0.002732	0.005882	0.000000	0.000000	0.003067	0.003788	0.07143	1320.49	38	chr9	137199456	.	G	A	1320.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=273;ExcessHet=0;FS=5.063;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.312;SOR=0.865	GT:AD:DP:GQ:PL	0/1:44,53:97:99:1331,0,944	6	0	1	0
chr9	137265959	137265959	G	A	exonic	NELFB	.	nonsynonymous SNV	NELFB:NM_015456:exon7:c.G1123A:p.G375S	.	.	.	.	.	.	.	.	.	.	.	2371454	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.00462114288179	.	.	7.597e-05	9.899e-05	0	0	0	3.095e-05	0	0.0004	5.82e-05	9	154602	rs756900212	6.78e-05	6.909e-05	5.997e-05	7.571e-05	0.0004	5.676e-05	5.266e-05	0.0002	0.0001	5.976e-05	0	0	5.039e-05	0	0.0004	6.477e-05	0	0.0002	7.876e-05	8.529e-05	7.706e-05	8.054e-05	0.0001	4.492e-05	3.509e-05	6.266e-05	4.288e-05	0.0001	0	0	0	0	0	0	8.82e-05	0	0	.	.	.	0.727	0.05221	T	.	.	.	.	.	.	0.000003	0.62929	N	0.137035	0.592792	0.32471	D	.	.	.	.	.	.	.	.	.	0.219	0.24510	-1.0256	0.21886	T	0.036	0.15553	T	9	0.04514751	0.03552	T	0.004621	0.11440	T	0.056	0.15993	.	.	0.102598925029	0.09809	0.06222013643074011	0.06162	0.394222162191	0.40582	0.432641029358	0.29569	T	.	.	.	-0.432924	0.01424	T	-0.555094	0.16841	T	0.0135035014850431	0.00247	T	0.843416	0.52040	T	.	.	.	.	.	.	.	.	-2.563	0.06227	T	.	.	0.074	0.05060	B	.;.	.;.	1.706083	0.21731	15.32	0.47430777738361368	0.03877	0.70120	0.34460	D	AEFGBHCI	0.161286	0.28733	N	-0.882360549487969	0.11262	0.5425562	-0.730418219258298	0.16205	0.8561377	0.999948349609537	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.02	1.96	0.25203	2.999000	0.49161	2.447000	0.32796	-0.161000	0.11593	1.000000	0.71638	0.988000	0.31051	0.463000	0.28185	0.4539:0.0:0.5461:0.0	6.910	0.23509	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	670.46	38	chr9	137265959	.	G	A	670.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.403;DP=241;ExcessHet=0;FS=2.08;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.65;SOR=0.436	GT:AD:DP:GQ:PL	0/1:36,30:66:99:681,0,848	6	0	1	0
chr9	137306981	137306981	G	A	exonic	EXD3	.	nonsynonymous SNV	EXD3:NM_017820:exon22:c.C2600T:p.P867L	.	420	1072	30	0	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0038	0.00778754	0.0068	0.0006	0.0033	0.0001	0.0021	0.0059	0.0094	0.0271	0.0058343	902	154602	rs118011827	0.0049	0.0049	0.0044	0.0055	0.0177	0.0048	0.0048	0.0170	0.0167	0.0006	0.0036	0.0045	5.061e-05	0.0017	0.0132	0.0044	0.0056	0.0177	0.0037	0.0037	0.0038	0.0036	0.0180	0.0034	0.0033	0.0150	0.0138	0.0011	0	0.0041	0.0063	0	0.0015	0	0.0046	0.0057	0.0180	0.289	0.15047	T	0.089	0.40426	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.63	0.53088	T	-0.84	0.22944	N	0.064	0.03613	-1.0552	0.12987	T	0.084	0.32814	T	9	0.002650559	0.00041	T	.	.	.	0.035	0.08770	.	.	0.0401082797425	0.02173	0.13143889159918148	0.13068	0.0537485315339	0.05938	0.293423980474	0.09424	T	0.004025	0.03433	T	-0.625299	0.00102	T	-0.656038	0.08536	T	0.000714748461818774	0.00006	T	0.49875	0.15541	T	0.025869284	0.01574	0.032090463	0.01891	0.025869284	0.01573	0.032090463	0.01891	-4.971	0.36523	T	.	.	0.080	0.07745	B	.	.	-0.270247	0.02750	0.368	0.72097194850595092	0.09855	0.00862	0.03425	N	AEFBI	0.048889	0.08390	N	-1.73501616686814	0.00725	0.03129348	-1.84216125642774	0.00633	0.02814956	0.999996336862171	0.74766	0.608966	0.35542	0	0.588066	0.40923	0	0.769059	0.98459	0	0.505526	0.08623	0	.	.	3.79	-6.17	0.01912	-1.162000	0.03252	-3.500000	0.02739	-0.922000	0.02193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.122:0.226:0.3855:0.2666	2.096	0.03445	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.015152	0.010870	0.014620	0.000000	0.000000	0.006098	0.022901	0.1429	1434.24	33	chr9	137306981	.	G	A	1434.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.119;DP=262;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.364;SOR=0.648	GT:AD:DP:GQ:PL	0/1:31,46:77:99:1187,0,781	5	0	2	0
chr9	137348192	137348192	G	A	exonic	EXD3	.	nonsynonymous SNV	EXD3:NM_017820:exon17:c.C1877T:p.P626L	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0002	0.0117812	0.0064	0.0005	0.0036	0.0576	0.0005	0.0004	0.0086	0.0105	0.0054398	841	154602	rs118030525	0.0023	0.0023	0.0020	0.0026	0.0483	0.0022	0.0022	0.0465	0.0458	0.0002	0.0016	0.0016	0.0483	0.0004	0.0002	0.0001	0.0051	0.0098	0.0027	0.0028	0.0026	0.0029	0.0529	0.0025	0.0024	0.0478	0.0457	0.0003	0	0.0016	0.0017	0.0529	0.0008	0.0034	0.0001	0.0071	0.0139	0.022	0.48642	D	0.028	0.54934	D	0.659	0.40886	P	0.056	0.26147	B	0.040699	0.24030	U	0.401991	0.505006	0.31772	D	0.695	0.17993	N	0.5	0.55608	T	-2.87	0.60348	D	0.128	0.12198	-1.0277	0.21200	T	0.019	0.07753	T	9	0.0029752553	0.00048	T	.	.	.	0.041	0.10877	.	.	0.219573609325	0.21563	0.4280074004437523	0.42717	0.0932765465965	0.10540	0.569874644279	0.48660	T	0.020554	0.16160	T	-0.536498	0.00352	T	-0.502439	0.22094	T	0.0203153856621811	0.00731	T	0.684832	0.29327	T	0.06852753	0.14937	0.06439761	0.12899	0.06852753	0.14937	0.06439761	0.12898	-8.866	0.66830	D	.	.	0.135	0.29283	B	.	.	1.392352	0.18050	13.52	0.72193858639621933	0.09888	0.05994	0.11957	N	AEFDGI	0.053896	0.09753	N	-0.780281603464539	0.13824	0.6838937	-0.876299116354849	0.12656	0.6523275	0.107140373839307	0.16547	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	2.98	2.06	0.25932	2.552000	0.45490	1.549000	0.27280	0.492000	0.22399	0.938000	0.32564	0.892000	0.27844	0.002000	0.04165	0.0:0.0:0.772:0.2279	8.766	0.33859	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	0.002535	0.000000	0.000000	0.002959	0.000000	0.000000	0.006211	0.003846	0.07143	1486.49	34	chr9	137348192	.	G	A	1486.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.03;DP=305;ExcessHet=0;FS=6.578;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.07;SOR=1.329	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1497,0,1228	6	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	917.89	56	chr10	825249	.	T	C	917.89	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.679;DP=539;ExcessHet=6.1542;FS=221.567;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2;ReadPosRankSum=1.29;SOR=10.035	GT:AD:DP:GQ:PL	0/1:66,35:101:99:328,0,1051	1	0	5	1
chr10	5096551	5096551	A	G	exonic	AKR1C3	.	nonsynonymous SNV	AKR1C3:NM_001253908:exon2:c.A226G:p.R76G,AKR1C3:NM_001253909:exon2:c.A226G:p.R76G,AKR1C3:NM_003739:exon2:c.A226G:p.R76G	.	9	1508	4	1	0	6	0.00198544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	.	.	0.00399361	0.0026	9.612e-05	8.652e-05	0	0	1.502e-05	0	0.0194	0.0012679	33	26028	rs370884375	0.0011	0.0011	0.0006	0.0017	0.0178	0.0011	0.0011	0.0171	0.0168	2.989e-05	2.236e-05	0	0.0002	0	0.0007	9.895e-06	0.0015	0.0178	0.0006	0.0006	0.0003	0.0009	0.0193	0.0005	0.0005	0.0161	0.0149	0	0	0	0	0	0	0	1.47e-05	0.0009	0.0193	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000013	0.62929	D	0.000000	0.91807	0.81001	D	4.745	0.99558	H	-0.41	0.69413	T	-6.57	0.91912	D	0.872	0.86941	-0.0150	0.81943	T	0.549	0.83460	D	10	0.011538297	0.00252	T	.	.	.	0.574	0.82742	.	.	0.829090776401	0.82747	0.8314991922048894	0.83108	0.0817148320359	0.09202	0.453360050917	0.32402	T	0.148845	0.71376	T	-0.141279	0.29687	T	0.0392228	0.72877	D	0.291325500009389	0.24644	T	0.983302	0.94968	D	0.9430236	0.95555	0.8546188	0.91815	0.9430236	0.95556	0.8546188	0.91815	-12.722	0.88185	D	.	.	0.824	0.79091	P	.;.;.;.	.;.;.;.	3.805173	0.54855	23.5	0.98662321888138704	0.44345	0.81961	0.41265	D	AEFBCI	0.525749	0.54839	D	0.267788938815818	0.54523	3.617731	-0.0172486266619947	0.38936	2.301154	0.999998096679088	0.74766	0.608746	0.35421	0	0.573888	0.26702	0	0.658983	0.55881	0	0.605231	0.38476	0	.	.	2.0	0.709	0.17307	1.554000	0.35873	6.065000	0.53205	0.587000	0.30956	0.928000	0.32210	1.000000	0.68203	0.216000	0.22352	0.7357:0.2643:0.0:0.0	6.038	0.18944	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase 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	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	3485.44	33	chr10	5096551	.	A	G	3485.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.559;DP=498;ExcessHet=0;FS=0.427;MLEAC=1;MLEAF=0.071;MQ=59.01;MQRankSum=0.413;QD=12.06;ReadPosRankSum=-1.87;SOR=0.652	GT:AD:DP:GQ:PL	0/1:144,145:289:99:3496,0,3565	6	0	1	0
chr10	7797101	7797101	A	G	exonic	ATP5F1C	.	nonsynonymous SNV	ATP5F1C:NM_001320886:exon2:c.A5G:p.K2R,ATP5F1C:NM_001001973:exon3:c.A146G:p.K49R,ATP5F1C:NM_005174:exon3:c.A146G:p.K49R	.	439	1082	1	0	0	1	0.000461894	.	.	.	2720513	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.379	0.00281916415418	.	.	0.0001	0	0	0	0	0.0001	0	0.0005	0.00011	17	154602	rs755191204	5.609e-05	5.609e-05	4.492e-05	6.738e-05	0.0003	4.61e-05	4.236e-05	0.0002	0.0002	0	4.472e-05	0.0001	0	1.872e-05	0.0003	3.777e-05	3.312e-05	0.0003	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0002	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.412e-05	0	6.539e-05	0	0	0	0	2.939e-05	0	0.0002	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	.	.	.	-2.74	0.58248	D	0.806	0.80180	-0.1218	0.79592	T	0.421	0.76650	T	9	0.71285987	0.73157	D	0.002819	0.05898	T	0.379	0.69696	0.591	0.71999	0.705890645922	0.70333	0.852623477085398	0.85224	0.741301081533	0.63278	0.850009083748	0.89617	D	0.547969	0.84642	D	0.0402807	0.57082	T	0.13624	0.79301	D	0.280159590706278	0.24178	T	0.975702	0.91457	D	0.68976164	0.77499	0.6335837	0.78616	0.68976164	0.77500	0.6335837	0.78617	-12.906	0.88972	D	.	.	0.394	0.62078	A	.;.	.;.	4.995922	0.82855	27.9	0.99909751939112745	0.97949	0.98982	0.89513	D	AEFBI	0.957074	0.97603	D	0.806577933809832	0.86516	8.910554	0.775546329592558	0.88046	9.437853	0.999999999999705	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.17	5.17	0.70848	9.162000	0.93899	11.086000	0.85840	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.009	0.71191	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	505.44	31	chr10	7797101	.	A	G	505.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.088;DP=244;ExcessHet=0;FS=0.926;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.92;ReadPosRankSum=0.366;SOR=0.699	GT:AD:DP:GQ:PL	0/1:48,25:73:99:516,0,1204	6	0	1	0
chr10	13439300	13439300	A	C	exonic	BEND7	.	nonsynonymous SNV	BEND7:NM_152751:exon9:c.T1279G:p.F427V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00325662057315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.12996	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	.	.	.	0.78	0.49358	T	0.07	0.06138	N	0.036	0.01068	-1.0298	0.20519	T	0.058	0.24428	T	9	0.049644917	0.04584	T	0.003257	0.07207	T	0.028	0.06331	0.236	0.16608	0.128392430309	0.12331	0.013637069840049159	0.01321	0.470944129722	0.46361	0.270769536495	0.06242	T	.	.	.	-0.232307	0.16345	T	-0.571469	0.15316	T	0.0378240408655323	0.03301	T	0.367163	0.08573	T	.	.	.	.	.	.	.	.	-2.948	0.09632	T	.	.	0.129	0.27493	B	.	.	-0.538716	0.01747	0.131	0.89350618234460855	0.18722	0.02406	0.06812	N	AEFDGBI	0.031264	0.03305	N	-1.28355518983921	0.03873	0.1738102	-1.33825494070615	0.03946	0.1851374	0.999986024081187	0.51787	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	2.32	-0.111	0.12914	-0.287000	0.08423	-1.674000	0.04940	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6693:0.0:0.3307:0.0	4.479	0.11172	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1987.44	33	chr10	13439300	.	A	C	1987.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.389;DP=386;ExcessHet=0;FS=4.131;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.731;SOR=0.717	GT:AD:DP:GQ:PL	0/1:99,92:191:99:1998,0,2493	6	0	1	0
chr10	15104021	15104021	T	C	exonic	RPP38	.	nonsynonymous SNV	RPP38:NM_001265601:exon2:c.T707C:p.F236S,RPP38:NM_006414:exon2:c.T707C:p.F236S,RPP38:NM_001097590:exon3:c.T707C:p.F236S,RPP38:NM_183005:exon3:c.T707C:p.F236S	.	437	1037	48	0	0	48	0.0226202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0005	0.00658946	0.0049	0.0004	0.0019	0.0154	0	0.0019	0.0055	0.0183	0.004379	677	154602	rs145152071	0.0026	0.0026	0.0020	0.0033	0.0302	0.0026	0.0025	0.0265	0.0251	0.0007	0.0019	0.0026	0.0107	3.744e-05	0.0302	0.0010	0.0038	0.0195	0.0023	0.0023	0.0018	0.0028	0.0205	0.0021	0.0020	0.0173	0.0160	0.0005	0	0.0018	0.0035	0.0137	0	0.0204	0.0016	0.0038	0.0205	0.406	0.10278	T	0.548	0.09489	T	0.003	0.11197	B	0.002	0.06944	B	0.972269	0.07787	N	1.014050	1	0.08975	N	2.01	0.54746	M	2.98	0.09356	T	-0.14	0.09135	N	0.084	0.06059	-0.9139	0.46364	T	0.015	0.06042	T	10	0.003263712	0.00056	T	.	.	.	0.038	0.09825	.	.	0.219573609325	0.21563	0.2349481285067767	0.23409	0.154710486626	0.17472	0.283195614815	0.07942	T	0.005185	0.04625	T	-0.619601	0.00111	T	-0.647195	0.09152	T	0.00119366092255091	0.00012	T	0.410359	0.10588	T	0.1212417	0.28514	0.037867542	0.03531	0.1212417	0.28514	0.037867542	0.03530	-1.537	0.01841	T	.	.	0.092	0.13362	B	.;.;.;.	.;.;.;.	0.245468	0.06252	2.707	0.55435688288076312	0.05342	0.05553	0.11449	N	AEFBCI	0.079022	0.15954	N	-1.19906891468011	0.05014	0.2276249	-1.23858193631294	0.05302	0.2523114	0.968855460798282	0.29083	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.88	-3.73	0.04112	-0.624000	0.05637	-0.067000	0.12346	-0.888000	0.02403	0.012000	0.18695	0.349000	0.24462	0.504000	0.29107	0.2082:0.3853:0.2135:0.193	2.386	0.04099	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	0.022659	0.010101	0.017663	0.043860	0.000000	0.025862	0.009146	0.018939	0.07143	1378.83	42	chr10	15104021	.	T	C	1378.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.398;DP=300;ExcessHet=0;FS=3.207;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.45;ReadPosRankSum=-0.395;SOR=1.126	GT:AD:DP:GQ:PL	0/1:28,51:79:99:1389,0,700	6	0	1	0
chr10	15786605	15786605	T	C	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon12:c.A553G:p.I185V,MINDY3:NM_024948:exon13:c.A1072G:p.I358V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00764646248318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.884e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.33585	T	0.144	0.43721	T	0.854	0.47077	P	0.561	0.49582	P	0.000000	0.84330	D	0.046090	0.999998	0.58761	D	.	.	.	1.35	0.34648	T	-0.79	0.21860	N	0.351	0.39254	-0.9547	0.40149	T	0.134	0.44856	T	10	0.33790162	0.50904	T	0.007646	0.20299	T	0.104	0.29647	0.417	0.45709	0.117191471859	0.11215	0.29488749243866924	0.29401	0.110849007013	0.12512	0.790306091309	0.80490	T	0.073	0.34616	T	-0.123486	0.32554	T	-0.415155	0.31631	T	0.655807673931122	0.38713	D	0.927007	0.73102	D	0.16934788	0.37445	0.1360903	0.32565	0.16934788	0.37445	0.1360903	0.32564	-10.573	0.77266	D	.	.	0.133	0.49048	B	.;.	.;.	3.708980	0.52937	23.3	0.99883937248878718	0.95970	0.95907	0.66669	D	AEFBI	0.489796	0.52755	N	0.494721475490579	0.66780	4.994687	0.539890980461801	0.70698	5.543418	0.999999789403579	0.74766	0.732398	0.92422	0	0.666794	0.63253	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	4.977000	0.63509	6.200000	0.54880	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.925	0.79395	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	191.04	56	chr10	15786605	.	T	C	191.04	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.364;DP=461;ExcessHet=4.7409;FS=333.852;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=-0.169;SOR=9.21	GT:AD:DP:GQ:PL	0/1:85,28:113:25:25,0,1412	2	0	5	0
chr10	17071506	17071506	G	A	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon19:c.C2545T:p.P849S	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.0318425801303	.	.	2.474e-05	0	8.67e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs745774000	5.473e-06	5.472e-06	2.723e-06	8.251e-06	0.0002	2.35e-06	1.7e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	0	3.312e-05	5.797e-05	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.092	0.31682	T	0.125	0.35330	T	0.962	0.55554	D	0.677	0.53365	P	0.001190	0.39899	N	0.000000	0.99513	0.42558	D	1.815	0.47718	L	1.06	0.39781	T	-6.08	0.89910	D	0.352	0.39356	-0.8789	0.49848	T	0.161	0.49681	T	10	0.60390216	0.67065	D	0.031843	0.53829	D	0.330	0.65226	0.743	0.87486	0.748251083934	0.74598	0.6725476328376706	0.67192	0.404307218436	0.41335	0.432484030724	0.29548	T	0.248423	0.61822	T	-0.281102	0.10551	T	-0.438906	0.28931	T	0.892468631267548	0.54356	D	0.70443	0.31478	T	0.21707428	0.44181	0.34635487	0.60304	0.21707428	0.44181	0.34635487	0.60304	-6.153	0.47542	T	0.6807537338335194	0.75709	0.114	0.22573	B	.	.	3.348402	0.46170	22.3	0.99797648397823535	0.88283	0.96320	0.68563	D	AEFBI	0.642885	0.61970	D	0.402160637080541	0.61542	4.356669	0.363310021193281	0.59314	4.10813	0.999999774933871	0.74766	0.559995	0.30671	0	0.573888	0.26702	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.47	5.47	0.80345	5.526000	0.66832	8.698000	0.78098	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.121000	0.19209	0.0721:0.0:0.9279:0.0	14.637	0.68298	864	0.32732	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2622.44	34	chr10	17071506	.	G	A	2622.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.377;DP=419;ExcessHet=0;FS=1.606;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.348;SOR=0.8	GT:AD:DP:GQ:PL	0/1:109,119:228:99:2633,0,2375	6	0	1	0
chr10	17796410	17796410	T	G	exonic	TMEM236	.	nonsynonymous SNV	TMEM236:NM_001098844:exon4:c.T962G:p.L321R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.00741813772929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338594101	7.526e-06	7.525e-06	8.169e-06	6.877e-06	0.0002	4.04e-06	2.95e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0.0002	5.397e-06	3.313e-05	1.159e-05	1.972e-05	1.97e-05	3.854e-05	0	0.0001	5.24e-06	2.45e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.02	0.49613	D	0.012	0.63918	D	0.999	0.77913	D	0.982	0.75477	D	0.002848	0.35836	N	0.192298	0.991447	0.41390	D	.	.	.	0.7	0.51474	T	-3.95	0.73477	D	0.759	0.75742	-0.5498	0.66794	T	0.260	0.63110	T	10	0.7524926	0.75740	D	0.029428	0.51938	D	0.311	0.63269	0.546	0.66015	0.0954503805726	0.09146	0.6757654553765741	0.67514	.	.	0.609037876129	0.54178	T	0.168077	0.51495	T	0.0886221	0.63033	D	-0.110477	0.62574	T	0.980169594287872	0.73213	D	0.754725	0.37732	T	0.30822727	0.53632	0.4005658	0.64590	0.30822727	0.53632	0.4005658	0.64590	-9.745	0.72371	D	.	.	0.918	0.84029	P	.	.	4.464051	0.69498	25.4	0.99757727328600465	0.84772	0.85585	0.44733	D	AEFI	0.239831	0.36172	N	0.487111521244984	0.66336	4.937046	0.40540467881523	0.61901	4.39687	1.89006552306818E-4	0.05844	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.61	4.61	0.56724	3.812000	0.55333	7.800000	0.69123	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.855000	0.40485	0.0:0.0:0.0:1.0	10.395	0.43380	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1166.44	34	chr10	17796410	.	T	G	1166.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.892;DP=303;ExcessHet=0;FS=1.643;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.898;SOR=0.511	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1177,0,1368	6	0	1	0
chr10	21759349	21759349	T	C	exonic	DNAJC1	.	nonsynonymous SNV	DNAJC1:NM_022365:exon11:c.A1417G:p.I473V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0125026916086	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs774207365	1.231e-05	1.231e-05	1.361e-05	1.1e-05	1.529e-05	7.7e-06	6.35e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001874	0.00835	N	2.745070	1	0.08975	N	0.49	0.13296	N	0.02	0.62318	T	0.24	0.04533	N	0.011	0.00110	-1.0070	0.27850	T	0.065	0.26702	T	10	0.017551482	0.00375	T	0.012503	0.31128	T	0.044	0.11924	0.12	0.02719	0.12205267543	0.11705	0.10874879878709136	0.10803	0.146429777507	0.16529	0.230087026954	0.01974	T	0.011462	0.10227	T	-0.337693	0.05549	T	-0.707363	0.05432	T	0.012504986348754	0.00207	T	0.0857914	0.00629	T	0.016838629	0.00226	0.018371703	0.00054	0.016838629	0.00226	0.018371703	0.00054	-2.762	0.07839	T	.	.	0.061	0.01075	B	.	.	-1.957600	0.00111	0.002	0.22528714243742845	0.00910	0.04177	0.09676	N	AEFDGBI	0.083696	0.16958	N	-2.14619306355472	0.00101	0.004328018	-2.20100796496336	0.00111	0.004898288	0.999999997032144	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.58	-11.2	0.00099	-0.949000	0.04003	-4.144000	0.02317	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0847:0.3248:0.3146:0.2759	4.124	0.09587	750	0.51762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	542.83	34	chr10	21759349	.	T	C	542.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.475;DP=227;ExcessHet=0;FS=6.121;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.735;SOR=0.374	GT:AD:DP:GQ:PL	0/1:24,23:47:99:553,0,741	6	0	1	0
chr10	29533429	29533429	T	C	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_021738:exon8:c.A938G:p.E313G	.	425	1032	62	3	0	68	0.0318949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0021	0.00379393	0.0052	0.0006	0.0009	0.0002	0.0006	0.0030	0.0033	0.0248	0.0045795	708	154602	rs138539716	0.0035	0.0035	0.0027	0.0042	0.0249	0.0034	0.0034	0.0240	0.0237	0.0004	0.0008	0.0020	7.561e-05	0.0008	0.0168	0.0022	0.0037	0.0249	0.0023	0.0023	0.0020	0.0026	0.0261	0.0021	0.0020	0.0224	0.0210	0.0002	0	0.0018	0.0014	0	0.0002	0.0102	0.0026	0.0019	0.0261	0.0	0.91255	D	0.019	0.59159	D	0.999	0.77913	D	0.922	0.65739	D	0.000035	0.55875	D	0.120676	0.999815	0.81001	D	2.965	0.85198	M	0.83	0.47815	T	-2.76	0.58569	D	0.672	0.67995	-0.5825	0.65518	T	0.277	0.64845	T	9	0.006445855	0.00146	T	.	.	.	0.161	0.41658	.	.	0.29966067498	0.29572	0.32499134559339155	0.32412	0.941272911634	0.72213	0.544726490974	0.45114	T	0.114264	0.43194	T	-0.326568	0.06375	T	-0.222944	0.52452	T	0.0506692524194072	0.05618	T	0.909109	0.67839	D	0.4057002	0.61126	0.45622653	0.68392	0.38305208	0.59537	0.45176348	0.68105	-4.169	0.26519	T	.	.	0.523	0.65599	A	.;.	.;.	4.217554	0.63767	24.6	0.99928286144631806	0.99222	0.98525	0.83712	D	AEFBI	0.791987	0.72041	D	0.720763892831633	0.80992	7.419273	0.719964135676973	0.83897	8.143189	0.999999999870866	0.74766	0.740787	0.97801	0	0.573888	0.26702	0	0.767554	0.98243	0	0.635551	0.53088	0	.	.	5.85	5.85	0.93663	7.074000	0.76478	6.216000	0.55070	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.230	0.82154	968	0.07033	.;.	.	.	.	.	.	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	0.009567	0.005051	0.009511	0.005848	0.000000	0.000000	0.012195	0.022727	0.07143	876.63	31	chr10	29533429	.	T	C	876.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.507;DP=242;ExcessHet=0;FS=0.926;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=2.71;SOR=0.495	GT:AD:DP:GQ:PL	0/1:37,37:74:99:887,0,982	6	0	1	0
chr10	45847137	45847137	C	-	exonic	AGAP4	.	frameshift deletion	AGAP4:NM_001276343:exon1:c.211delG:p.E71Rfs*52,AGAP4:NM_133446:exon1:c.211delG:p.E71Rfs*29	.	401	1077	44	0	0	44	0.0200182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333205919	3.891e-05	0.0028	3.044e-05	4.746e-05	0.0006	3.073e-05	2.762e-05	0.0002	8.801e-05	9.088e-05	0	0	0	0.0005	0.0006	2.082e-05	1.67e-05	6.989e-05	4.029e-05	0.0010	3.927e-05	4.136e-05	7.471e-05	1.746e-05	1.15e-05	1.981e-05	1.049e-05	7.471e-05	0	0	0	0	0.0003	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	464.59	20	chr10	45847136	.	TC	T	464.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.731;DP=206;ExcessHet=0;FS=3.648;MLEAC=1;MLEAF=0.071;MQ=38.25;MQRankSum=-1.741;QD=9.11;ReadPosRankSum=1.39;SOR=0.208	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,14:51:99:0|1:45847136_TC_T:475,0,1481:45847136	6	0	1	0
chr10	47502401	47502401	A	T	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.T1728A:p.F576L	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247418370	0.0002	0.0002	8.451e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0018	1.169e-05	9.963e-05	0.0025	5.981e-05	5.912e-05	5.19e-05	6.812e-05	0.0017	3.109e-05	2.233e-05	0.0008	0.0006	0	0	0	0	0	0	0.0034	0	0	0.0017	0.001	0.78490	D	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.49358	T	-5.21	0.83763	D	0.557	0.58202	.	.	.	.	.	.	.	0.59294754	0.66483	D	.	.	.	.	.	.	.	0.363944505237	0.36005	0.06192461003115752	0.06132	.	.	.	.	.	.	.	.	0.128352	0.67200	D	-0.0534071	0.66789	D	.	.	.	0.987451	0.95727	D	.	.	.	.	.	.	.	.	-7.849	0.60036	D	.	.	0.939	0.85814	P	.	.	2.100398	0.26722	17.22	0.27390082919576153	0.01357	0.28680	0.23620	N	AEFI	.	.	.	.	.	.	.	.	.	1.16106452124722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0902175	0.20419	0.109	-0.218	0.12495	1.449000	0.34734	1.505000	0.26983	0.179000	0.17797	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.6741:0.0:0.3259:0.0	4.015	0.09128	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	4852.27	34	chr10	47502401	.	A	T	4852.27	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.4;DP=367;ExcessHet=0;FS=3.031;MLEAC=2;MLEAF=0.143;MQ=54.89;MQRankSum=2.59;QD=29.59;ReadPosRankSum=2.04;SOR=0.116	GT:AD:DP:GQ:PL	1/1:2,162:164:99:4873,428,0	6	1	0	0
chr10	47502604	47502604	A	C	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.T1525G:p.F509V	.	422	728	305	64	3	436	0.229222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4013543	0.0002	0.0002	9.315e-05	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	6.281e-05	0	0	5.406e-05	0	0.0017	1.489e-05	0.0001	0.0026	0.0001	0.0001	0.0001	0.0001	0.0022	6.348e-05	5.056e-05	0.0011	0.0008	3.155e-05	0	0	0	0	0	0.0046	1.789e-05	0.0013	0.0022	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	0.42502	T	0.47	0.03090	N	0.186	0.20262	.	.	.	.	.	.	.	0.10073686	0.18362	T	.	.	.	.	.	.	.	.	.	0.03142456421492586	0.03091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.947505	0.79737	D	.	.	.	.	.	.	.	.	-4.062	0.24728	T	.	.	0.137	0.29995	B	.	.	2.201820	0.28079	17.68	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104000	0.57524	2.605000	0.33544	-1.214000	0.01347	1.000000	0.71638	0.940000	0.28757	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	6225.09	34	chr10	47502604	.	A	C	6225.09	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.18;DP=391;ExcessHet=0;FS=6.327;MLEAC=2;MLEAF=0.143;MQ=38.36;MQRankSum=-5.704;QD=22.72;ReadPosRankSum=-0.87;SOR=1.012	GT:AD:DP:GQ:PL	1/1:0,157:169:99:4836,469,0	6	1	0	0
chr10	48180933	48180933	C	T	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon19:c.G2585A:p.S862N,FRMPD2:NM_001018071:exon21:c.G2660A:p.S887N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0224193433728	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1309661030	7.678e-06	4.229e-06	5.468e-06	9.623e-06	0.0001	2.76e-06	1.81e-06	3.911e-05	2.055e-05	0.0001	0	0	0	0	0	0	0	4.181e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.109	0.37449	T	0.454	0.42542	P	0.079	0.40924	B	.	.	.	.	0.999988	0.18198	N	0.625	0.15840	N	-0.01	0.63568	T	-1.63	0.39119	N	0.057	0.02861	-1.0252	0.22017	T	0.109	0.39439	T	9	0.101522714	0.18553	T	0.022419	0.45307	T	0.063	0.18251	0.3	0.26683	0.343334270461	0.33943	0.15798242281686345	0.15719	0.0318931343396	0.03313	0.283751487732	0.08021	T	0.017399	0.14204	T	-0.470606	0.00843	T	-0.634334	0.10087	T	0.0397026220339581	0.03637	T	0.576042	0.20701	T	0.07822575	0.17800	0.08540104	0.19714	0.07822575	0.17800	0.08540104	0.19714	-4.647	0.32818	T	.	.	0.091	0.16800	B	.;.;.	.;.;.	0.813568	0.11844	8.414	0.9363348244070322	0.23508	0.06910	0.12935	N	AEFI	0.059649	0.11282	N	-0.823734067224378	0.12704	0.6210146	-0.890933679760294	0.12307	0.6323684	3.02289868968414E-4	0.06454	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.13	-0.426	0.11700	0.292000	0.18766	0.031000	0.13732	-0.206000	0.08541	0.226000	0.24601	0.000000	0.08366	0.039000	0.14166	0.1431:0.4722:0.1393:0.2453	1.721	0.02737	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	.	.	.	.	.	.	.	.	0.1429	675.42	28	chr10	48180933	.	C	T	675.42	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.108;DP=162;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=30;MQRankSum=0.482;QD=25.98;ReadPosRankSum=-1.201;SOR=0.33	GT:AD:DP:GQ:PL	1/1:1,25:26:46:696,46,0	6	1	0	0
chr10	50104141	50104141	G	A	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1735A:p.E579K,WASHC2A:NM_001291398:exon18:c.G1735A:p.E579K,WASHC2A:NM_001330102:exon18:c.G1735A:p.E579K	.	.	.	.	.	.	.	.	0.0002	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.00806134122702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.019	0.59159	D	0.979	0.65571	D	0.547	0.62173	P	0.000196	0.48115	D	0.177367	0.999951	0.52396	D	.	.	.	.	.	.	-2.9	0.62343	D	0.284	0.38129	-0.5916	0.65157	T	0.295	0.66640	T	9	0.13366267	0.25440	T	0.008061	0.21368	T	0.136	0.36778	0.283	0.23961	0.043077524339	0.03247	0.08302946398203838	0.08237	.	.	0.596591353416	0.52423	T	0.224715	0.58924	T	0.031738	0.55955	T	-0.192187	0.55385	T	0.935279011726379	0.60337	D	0.80302	0.47137	T	0.33316985	0.55729	0.3041158	0.56441	0.33316985	0.55729	0.3041158	0.56440	-10.594	0.77386	D	.	.	0.244	0.48071	B	.;.;.;.;.	.;.;.;.;.	4.818866	0.78469	26.9	0.99814579360661781	0.89797	0.80605	0.40199	D	AEFI	0.261847	0.37971	N	0.0540664108470331	0.44330	2.709031	-0.0580937172112838	0.37142	2.170761	3.20204501784103E-6	0.01202	0.706548	0.73137	0	0.659464	0.62310	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	2.25	0.27340	3.458000	0.52778	9.527000	0.80942	-0.373000	0.05434	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:0.2451:0.7549:0.0	8.354	0.31482	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	.	.	.	.	.	.	.	.	0.1	329.65	20	chr10	50104141	.	G	A	329.65	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.299;DP=245;ExcessHet=0.3476;FS=168.129;MLEAC=1;MLEAF=0.1;MQ=57.71;MQRankSum=-0.83;QD=2.23;ReadPosRankSum=1.06;SOR=7.475	GT:AD:DP:GQ:PL	0/1:59,12:76:53:53,0,1678	4	0	1	2
chr10	53822328	53822328	C	T	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001142767:exon31:c.G5278A:p.V1760I,PCDH15:NM_001142765:exon32:c.G5191A:p.V1731I,PCDH15:NM_001142766:exon32:c.G5389A:p.V1797I,PCDH15:NM_001142773:exon32:c.G5329A:p.V1777I,PCDH15:NM_001142768:exon33:c.G5338A:p.V1780I,PCDH15:NM_033056:exon33:c.G5398A:p.V1800I,PCDH15:NM_001142764:exon34:c.G5404A:p.V1802I,PCDH15:NM_001142763:exon35:c.G5419A:p.V1807I,PCDH15:NM_001354404:exon35:c.G5332A:p.V1778I	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	16	1487	18	1	0	20	0.00668003	.	.	.	55664	PCDH15-related_disorder|Usher_syndrome_type_1|Usher_syndrome_type_1F|not_provided|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_23|not_specified	.|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0012293,MedGen:C1836027,OMIM:609533,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.007	0.00365243390985	0.0004	0.000399361	0.0020	0.0004	0.0014	0	0.0002	0.0010	0.0016	0.0072	0.001119	173	154602	rs111033463	0.0010	0.0010	0.0007	0.0012	0.0071	0.0009	0.0009	0.0066	0.0064	0.0003	0.0003	0.0032	0	3.785e-05	0.0038	0.0006	0.0011	0.0071	0.0007	0.0007	0.0007	0.0007	0.0047	0.0006	0.0006	0.0032	0.0027	0.0002	0.0022	0.0003	0.0032	0	0	0	0.0008	0.0019	0.0047	0.698	0.05652	T	0.568	0.08870	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.53	0.55608	T	-0.07	0.08033	N	0.029	0.02088	-1.0979	0.04354	T	0.051	0.21689	T	9	0.0047968924	0.00101	T	0.003652	0.08402	T	0.007	0.00512	.	.	0.188950314367	0.18478	0.04871603969946865	0.04814	0.0250269406007	0.02547	0.321215897799	0.13606	T	0.009535	0.31904	T	-0.669087	0.00056	T	-0.731123	0.04277	T	0.000636441225987921	0.00006	T	0.606739	0.22845	T	0.021872044	0.00815	0.022192659	0.00250	0.014396173	0.00092	0.019614324	0.00097	-3.358	0.14497	T	.	.	0.075	0.05711	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.608475	0.00236	0.004	0.55400346948440171	0.05334	0.00934	0.03615	N	AEFBI	0.056804	0.10529	N	-2.7341606929367	0.00004	0.0001952127	-2.80096084780075	0.00004	0.0002015117	0.999969443077129	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.77	-7.55	0.01185	-3.928000	0.00374	-3.485000	0.02751	-5.354000	0.00011	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1397:0.1592:0.2119:0.4891	3.209	0.06278	953	0.10115	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.000000	0.005848	0.000000	0.000000	0.003049	0.003788	0.07143	2962.44	33	chr10	53822328	.	C	T	2962.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.99;DP=421;ExcessHet=0;FS=1.233;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-1.25;SOR=0.583	GT:AD:DP:GQ:PL	0/1:101,107:208:99:2973,0,2453	6	0	1	0
chr10	80142157	80142157	G	A	exonic	PLAC9	.	nonsynonymous SNV	PLAC9:NM_001012973:exon2:c.G140A:p.R47H,PLAC9:NM_001331125:exon2:c.G140A:p.R47H	.	431	1051	34	6	0	46	0.0214153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0011	0.00958466	0.0060	0.0003	0.0014	0.0001	0	0.0016	0.0034	0.0365	0.0052781	816	154602	rs140942088	0.0034	0.0034	0.0022	0.0045	0.0359	0.0033	0.0032	0.0349	0.0344	0.0002	0.0013	0.0002	0.0001	3.751e-05	0.0125	0.0013	0.0035	0.0359	0.0020	0.0020	0.0015	0.0026	0.0347	0.0018	0.0018	0.0304	0.0288	0.0003	0	0.0010	0	0.0002	0	0.0170	0.0014	0.0047	0.0347	0.203	0.46129	T	0.447	0.34241	T	0.955	0.54515	P	0.202	0.36942	B	0.159526	0.03027	N	1.822350	1	0.08975	N	.	.	.	.	.	.	-2.02	0.46842	N	0.199	0.28849	-1.0179	0.24398	T	0.045	0.19194	T	8	0.0045104027	0.00093	T	.	.	.	0.042	0.11227	.	.	0.0846915920261	0.08053	0.05386547015840243	0.05328	0.0558337906702	0.06170	0.300910115242	0.10536	T	0.092442	0.40309	T	-0.528398	0.00392	T	-0.505323	0.21796	T	0.0103946692802029	0.00143	T	0.537046	0.20808	T	0.030752346	0.02793	0.029370682	0.01267	0.030752346	0.02793	0.029370682	0.01267	-4.839	0.35042	T	.	.	0.07	0.11414	B	.;.;.	.;.;.	1.452229	0.18731	13.90	0.99260506571612439	0.57188	0.04294	0.09839	N	AEFDGBCI	0.041972	0.06451	N	-0.577971813383933	0.19615	1.027963	-0.754565020862231	0.15610	0.8218491	0.999987364452922	0.51787	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	3.74	0.88	0.18296	0.343000	0.19686	2.824000	0.34981	-0.192000	0.09343	0.001000	0.13787	0.185000	0.23452	0.029000	0.12982	0.3502:0.0:0.6498:0.0	5.719	0.17244	919	0.19497	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.010101	0.002717	0.011696	0.000000	0.008621	0.021341	0.015152	0.07143	1847.44	34	chr10	80142157	.	G	A	1847.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.844;DP=342;ExcessHet=0;FS=0.594;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.183;SOR=0.635	GT:AD:DP:GQ:PL	0/1:73,79:152:99:1858,0,1552	6	0	1	0
chr10	87234346	87234346	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon7:c.C2275T:p.P759S	.	430	1052	40	0	0	40	0.0186567	.	.	.	2334427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.029	0.00156055519283	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202170952	0.0021	0.0022	0.0016	0.0027	0.0198	0.0021	0.0020	0.0190	0.0187	0.0002	0.0003	4.042e-05	2.773e-05	0.0003	0.0107	0.0010	0.0026	0.0198	0.0011	0.0013	0.0009	0.0014	0.0200	0.0010	0.0009	0.0159	0.0144	0.0003	0	0.0011	0	0	0	0.0120	0.0009	0.0014	0.0200	0.438	0.09319	T	0.233	0.24913	T	0.966	0.56202	D	0.862	0.61339	P	0.067306	0.21750	N	0.396389	1	0.08975	N	.	.	.	2.86	0.10482	T	-3.41	0.67129	D	0.154	0.15888	-1.0194	0.23910	T	0.026	0.11220	T	10	0.010133654	0.00227	T	0.001561	0.02471	T	0.029	0.06676	.	.	0.082315109003	0.07666	0.14299039335390046	0.14222	.	.	0.610876083374	0.54440	T	0.016466	0.13603	T	-0.620574	0.00109	T	-0.648593	0.09052	T	0.0959184643250234	0.11902	T	0.616438	0.23595	T	0.056601197	0.11158	0.073595196	0.16008	0.056601197	0.11157	0.073595196	0.16008	-9.656	0.71826	D	.	.	0.406	0.59920	A	.	.	0.903481	0.12774	9.293	0.93443176978804021	0.23221	0.00076	0.00525	N	AEFI	0.022575	0.01146	N	-0.682267636567769	0.16526	0.842831	-0.921480828877853	0.11588	0.5912465	1.10060064083604E-6	0.01202	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.15	0.176	0.14334	0.256000	0.18120	-20.000000	0.00162	0.337000	0.19705	0.004000	0.16614	0.000000	0.08366	0.193000	0.21690	0.0:0.7201:0.0:0.2799	3.546	0.07383	920	0.19381	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	751.53	16	chr10	87234346	.	C	T	751.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.775;DP=192;ExcessHet=0;FS=3.966;MLEAC=1;MLEAF=0.071;MQ=29.94;MQRankSum=-1.568;QD=17.08;ReadPosRankSum=-0.631;SOR=0.231	GT:AD:DP:GQ:PL	0/1:14,30:44:99:762,0,339	6	0	1	0
chr10	92340687	92340687	G	A	exonic	MARCHF5	.	nonsynonymous SNV	MARCHF5:NM_017824:exon3:c.G253A:p.V85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	.	0.00119808	0.0018	0	0.0152	0	0	4.513e-05	0	0.0022	0.0015136	234	154602	rs189096816	0.0006	0.0006	0.0006	0.0006	0.0112	0.0006	0.0006	0.0104	0.0101	0	0.0112	0	5.048e-05	5.62e-05	0.0007	0.0002	0.0002	0.0019	0.0004	0.0004	0.0004	0.0005	0.0031	0.0004	0.0003	0.0024	0.0022	0	0	0.0031	0	0	0	0	2.94e-05	0.0014	0.0031	0.665	0.04629	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	0.000000	0.84330	D	0.053033	0.999992	0.58761	D	-0.31	0.03598	N	0.91	0.44856	T	0.07	0.06138	N	0.217	0.24260	-1.0491	0.14649	T	0.049	0.20987	T	10	0.0069832206	0.00159	T	.	.	.	0.091	0.26358	.	.	0.23524818089	0.23142	0.6578393417687897	0.65720	0.734059094387	0.62875	0.626781821251	0.56688	T	0.032249	0.22404	T	-0.539581	0.00337	T	-0.536816	0.18611	T	0.0367047541406453	0.03104	T	0.787321	0.42620	T	0.06551405	0.14007	0.11757495	0.28382	0.06551405	0.14007	0.11757495	0.28382	-4.579	0.31907	T	.	.	0.074	0.05274	B	.	.	3.466362	0.48338	22.6	0.96536974306417711	0.30172	0.98334	0.81734	D	AEFGBI	0.641760	0.61898	D	-0.170226056677339	0.34378	1.961494	0.0956883131176414	0.44332	2.716955	0.999999340232262	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	4.981000	0.63540	7.684000	0.65448	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.266	0.98462	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1047.45	34	chr10	92340687	.	G	A	1047.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.22;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.414;SOR=0.725	GT:AD:DP:GQ:PL	0/1:53,45:98:99:1058,0,1207	6	0	1	0
chr10	93316745	93316745	G	T	exonic	MYOF	.	nonsynonymous SNV	MYOF:NM_133337:exon49:c.C5628A:p.D1876E,MYOF:NM_013451:exon50:c.C5667A:p.D1889E	.	428	1083	11	0	0	11	0.00505282	.	.	.	2809471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.748	0.106290282159	0.0006	0.000998403	0.0016	0.0001	0.0002	0	0	0.0009	0.0056	0.0079	0.0014165	219	154602	rs201166887	0.0008	0.0008	0.0006	0.0011	0.0076	0.0008	0.0008	0.0071	0.0069	5.975e-05	0.0004	0.0128	0	0	0.0019	8.724e-05	0.0017	0.0076	0.0007	0.0007	0.0006	0.0008	0.0062	0.0006	0.0005	0.0045	0.0039	2.409e-05	0	0.0005	0.0138	0	0	0	0.0002	0.0024	0.0062	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.987	0.97372	D	0.000000	0.84330	D	0.000000	0.998721	0.45339	D	3.1	0.87590	M	-1.38	0.80301	T	-3.93	0.73267	D	0.958	0.97095	0.565	0.91439	D	0.702	0.89757	D	10	0.02361074	0.00623	T	0.10629	0.78182	D	0.748	0.91328	0.767	0.89452	0.849338563989	0.84788	0.8348420006525817	0.83443	0.632288125615	0.57165	0.756035029888	0.75339	T	0.688461	0.90919	D	0.0552572	0.59015	T	0.311162	0.88706	D	0.111417805912698	0.13570	T	0.986551	0.95418	D	0.8640678	0.88397	0.77634686	0.86806	0.8640678	0.88399	0.77634686	0.86807	-11.205	0.80770	D	.	.	0.994	0.95728	P	.;.	.;.	2.854161	0.37691	20.6	0.99597680986092485	0.73983	0.91245	0.53145	D	AEFBI	0.464004	0.51268	N	0.388479055655576	0.60797	4.272734	0.240353550552675	0.52103	3.387439	0.999675789187482	0.41644	0.706548	0.73137	0	0.588066	0.40923	0	0.601832	0.32385	0	0.714379	0.83352	0	.	.	5.53	-1.34	0.08665	1.139000	0.31115	0.911000	0.22627	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.999000	0.91618	0.1996:0.0:0.8004:0.0	17.788	0.88454	760	0.50470	.;C2 domain|C2 domain|Ferlin, sixth 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	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	527.53	33	chr10	93316745	.	G	T	527.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.555;DP=242;ExcessHet=0;FS=2.035;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=0.383;SOR=0.465	GT:AD:DP:GQ:PL	0/1:44,26:70:99:538,0,1113	6	0	1	0
chr10	94942234	94942234	G	A	exonic	CYP2C9	.	nonsynonymous SNV	CYP2C9:NM_000771:exon3:c.G374A:p.R125H	Tolbutamide poor metabolizer (3);Warfarin sensitivity, Autosomal dominant	0	1513	8	1	0	10	0.00329381	.	.	.	1156516	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.154	.	.	0.00419329	0.0030	9.61e-05	0.0007	0.0001	0	0.0001	0.0011	0.0204	0.0025291	391	154602	rs72558189	0.0012	0.0012	0.0006	0.0018	0.0187	0.0012	0.0012	0.0180	0.0177	0.0002	0.0002	3.827e-05	0.0001	0	0.0007	7.824e-05	0.0011	0.0187	0.0008	0.0008	0.0004	0.0013	0.0207	0.0007	0.0007	0.0175	0.0162	9.622e-05	0	0.0007	0	0.0004	0	0	0.0001	0	0.0207	0.055	0.38407	T	0.044	0.49663	D	0.76	0.43524	P	0.337	0.42281	B	0.000003	0.62929	U	0.000000	0.962905	0.38317	D	3.315	0.90654	M	2.41	0.15492	T	-4.01	0.74193	D	0.373	0.41459	-1.0120	0.26291	T	0.085	0.33269	T	10	0.023801684	0.00634	T	.	.	.	0.154	0.40340	0.808	0.92512	0.523444149082	0.51990	0.14002824384084286	0.13925	0.0167845600176	0.01621	0.317028939724	0.12971	T	0.333519	0.70336	T	-0.455481	0.01048	T	-0.412107	0.31981	T	0.172051280551652	0.18718	T	0.775922	0.48627	T	0.2888983	0.51890	0.22145092	0.46955	0.28631094	0.51647	0.19913037	0.43778	-8.349	0.63425	D	.	.	0.191	0.41063	B	.;.	.;.	2.784903	0.36587	20.3	0.99890628384650026	0.96513	0.85639	0.44793	D	AEFBI	0.904677	0.85527	D	0.108894879081486	0.46877	2.921487	-0.0231754652082611	0.38671	2.28164	2.71044171770123E-4	0.06244	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.34	2.42	0.28720	2.777000	0.47404	0.072000	0.14274	-0.165000	0.11486	0.901000	0.31451	0.000000	0.08366	0.267000	0.23694	0.1232:0.0:0.8768:0.0	8.427	0.31897	736	0.53558	.;.	.	.	.	.	.	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	0.003181	0.000000	0.001359	0.004098	0.000000	0.000000	0.000000	0.015385	0.07143	2741.44	43	chr10	94942234	.	G	A	2741.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.9;DP=436;ExcessHet=0;FS=3.816;MLEAC=1;MLEAF=0.071;MQ=59.09;MQRankSum=0.558;QD=12.69;ReadPosRankSum=0.658;SOR=0.942	GT:AD:DP:GQ:PL	0/1:109,107:216:99:2752,0,2715	6	0	1	0
chr10	95684564	95684564	C	T	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_015631:exon9:c.G1030A:p.G344R	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	8	1407	104	3	0	110	0.0376197	.	.	.	207805	not_specified|Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_provided	MedGen:CN169374|MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.375	.	0.0049	0.00359425	0.0072	0.0012	0.0033	0.0002	0.0070	0.0074	0.0066	0.0167	0.0067464	1043	154602	rs141088838	0.0065	0.0065	0.0062	0.0068	0.0152	0.0064	0.0064	0.0146	0.0143	0.0022	0.0037	0.0099	5.04e-05	0.0096	0.0151	0.0060	0.0074	0.0152	0.0045	0.0045	0.0048	0.0043	0.0133	0.0043	0.0041	0.0107	0.0097	0.0016	0.0088	0.0029	0.0069	0.0006	0.0057	0.0204	0.0059	0.0057	0.0133	0.484	0.08140	T	0.618	0.07741	T	0.006	0.16265	B	0.011	0.15521	B	0.248852	0.03633	N	1.421560	1	0.08975	N	0.675	0.16386	N	-1.51	0.81399	D	-1.25	0.31576	N	0.278	0.32370	-1.0118	0.26353	T	0.056	0.23677	T	10	0.009601146	0.00216	T	.	.	.	0.375	0.69358	0.476	0.55342	0.790772292906	0.78882	0.5454035550696645	0.54466	0.13614919438	0.15352	0.240530341864	0.02838	T	0.163459	0.50852	T	-0.328064	0.06259	T	-0.231693	0.51608	T	0.00183713152993083	0.00019	T	0.687031	0.29593	T	0.049764294	0.08885	0.06339117	0.12551	0.050919995	0.09274	0.058357354	0.10769	-3.4	0.18759	T	0.06951102923013433	0.02612	0.079	0.12750	B	.;.;.;.	.;.;.;.	0.943955	0.13196	9.698	0.79239687288419069	0.12652	0.02608	0.07182	N	AEFBI	0.040571	0.06054	N	-0.568814744440956	0.19897	1.04495	-0.618461886141582	0.19019	1.018611	6.80979325413761E-5	0.04366	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.59	-0.788	0.10387	-0.057000	0.11726	.	.	-0.182000	0.10109	0.059000	0.21734	0.003000	0.18671	0.955000	0.50612	0.0:0.4378:0.2572:0.3049	5.321	0.15186	712	0.56465	Domain of unknown function DUF1619;Domain of unknown function DUF1619;Domain of unknown function DUF1619;.	.	.	.	.	.	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	0.018649	0.020408	0.016304	0.017544	0.000000	0.000000	0.021341	0.034091	0.1429	922.29	45	chr10	95684564	.	C	T	922.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.29;DP=225;ExcessHet=0.3476;FS=2.83;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.395;SOR=0.507	GT:AD:DP:GQ:PL	0/1:28,15:43:99:360,0,632	5	0	2	0
chr10	95693676	95693676	G	A	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_001143973:exon1:c.C224T:p.A75V,TCTN3:NM_015631:exon1:c.C224T:p.A75V	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	9	1406	104	3	0	110	0.0376454	.	.	.	207806	Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_specified|not_provided	MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0050	0.00359425	0.0104	0.0005	0.0025	0	0.0126	0.0070	0.0142	0.0174	0.0023544	364	154602	rs41291570	0.0065	0.0062	0.0062	0.0067	0.0151	0.0063	0.0063	0.0144	0.0141	0.0021	0.0038	0.0100	2.798e-05	0.0097	0.0146	0.0059	0.0073	0.0151	0.0045	0.0045	0.0048	0.0043	0.0133	0.0042	0.0041	0.0107	0.0097	0.0015	0.0088	0.0029	0.0069	0.0008	0.0056	0.0204	0.0059	0.0057	0.0133	0.135	0.26192	T	0.284	0.26631	T	0.002	0.12183	B	0.004	0.17743	B	0.695638	0.10137	N	0.851711	1	0.08975	N	1.2	0.30300	L	-1.72	0.83241	D	-1.18	0.30140	N	0.02	0.00445	-1.0142	0.25593	T	0.043	0.18576	T	10	0.00509724	0.00110	T	.	.	.	0.089	0.25827	.	.	0.853917324909	0.85251	0.27649445813637197	0.27562	0.112868008101	0.12739	0.290317267179	0.08968	T	0.003843	0.03252	T	-0.429777	0.01487	T	-0.377798	0.35981	T	0.00188038530215611	0.00019	T	0.70393	0.31793	T	0.027774865	0.02017	0.0480095	0.07041	0.028834157	0.02283	0.03944964	0.04039	-4.12	0.25877	T	0.20698699571383888	0.27655	0.069	0.09045	B	.;.;.;.;.	.;.;.;.;.	1.137991	0.15248	11.71	0.98272581091808886	0.39777	0.00594	0.02659	N	AEFDGBHCI	0.051049	0.08981	N	-0.671870877272385	0.16825	0.8606815	-0.823356092228878	0.13929	0.725252	0.999999999731661	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.54	-0.71	0.10668	0.271000	0.18390	.	.	0.662000	0.56354	0.001000	0.13787	0.001000	0.17328	0.076000	0.17014	0.3648:0.162:0.4732:0.0	4.443	0.11007	714	0.56256	.;.;.;.;.	.	.	.	.	.	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	0.022837	0.015957	0.007937	0.026549	0.000000	0.000000	0.027473	0.036585	0.1429	1735.24	61	chr10	95693676	.	G	A	1735.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.274;DP=342;ExcessHet=0.3476;FS=1.877;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.868;SOR=0.854	GT:AD:DP:GQ:PL	0/1:78,48:126:99:1139,0,2013	5	0	2	0
chr10	102139959	102139959	G	A	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.G1451A:p.R484H,PPRC1:NM_001288728:exon5:c.G1091A:p.R364H,PPRC1:NM_015062:exon5:c.G1451A:p.R484H	.	420	1100	2	0	0	2	0.000908265	.	.	.	2398659	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0553080521589	.	0.000199681	0.0001	0	0.0003	0	0	0.0001	0	0.0002	0.0001617	25	154602	rs200642961	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	5.974e-05	0.0003	0	0	0	0	0.0004	8.279e-05	0.0004	0.0001	0.0001	8.995e-05	0.0002	0.0015	9.737e-05	8.252e-05	0.0007	0.0005	7.217e-05	0	0.0001	0	0	0	0	0.0001	0	0.0015	0.001	0.78490	D	0.111	0.37173	T	0.999	0.77913	D	0.826	0.59373	P	0.061703	0.22151	N	0.434704	0.999844	0.20203	N	1.895	0.50365	L	0.52	0.55266	T	-1.15	0.30964	N	0.168	0.34012	-0.8237	0.53702	T	0.221	0.58459	T	10	0.08367199	0.13944	T	0.055308	0.66184	D	0.166	0.42578	.	.	0.400648398573	0.39681	0.19595792321012287	0.19512	0.426828410224	0.43046	0.399281859398	0.24968	T	0.017259	0.39461	T	-0.259645	0.12941	T	-0.310415	0.43613	T	0.119768297356001	0.14408	T	0.935406	0.77472	D	0.07045124	0.15517	0.06944215	0.14631	0.07045124	0.15517	0.06944215	0.14631	-6.937	0.53573	T	.	.	0.135	0.29228	B	.;.	.;.	4.068055	0.60425	24.2	0.99909401289653355	0.97949	0.66322	0.33038	D	AEFGBCI	0.287733	0.39981	N	0.307737444561502	0.56545	3.819351	0.28655086396114	0.54753	3.639433	0.913352558477186	0.26421	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	3.902000	0.56023	7.563000	0.60525	0.676000	0.76740	0.451000	0.26573	1.000000	0.68203	0.039000	0.14166	0.0:0.1545:0.8455:0.0	13.661	0.61844	666	0.61362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1446.27	33	chr10	102139959	.	G	A	1446.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=281;ExcessHet=0;FS=0.736;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-1.376;SOR=0.693	GT:AD:DP:GQ:PL	0/1:48,56:104:99:1456,0,1083	5	0	1	1
chr10	103443991	103443991	T	G	exonic	PDCD11	.	nonsynonymous SNV	PDCD11:NM_014976:exon34:c.T5201G:p.F1734C	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.141646973918	.	.	9.092e-05	0	0.0002	0	0	4.518e-05	0	0.0004	7.12e-05	11	154602	rs746500579	4.584e-05	4.583e-05	1.77e-05	7.427e-05	0.0006	3.662e-05	3.348e-05	0.0005	0.0004	0	2.236e-05	0	0	1.872e-05	0.0004	8.094e-06	4.97e-05	0.0006	6.566e-05	6.562e-05	2.57e-05	0.0001	0.0017	3.514e-05	2.615e-05	0.0008	0.0006	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0017	0.003	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.615	0.76484	M	0.44	0.56609	T	-4.57	0.78721	D	0.85	0.84609	-0.2914	0.75226	T	0.352	0.71541	T	10	0.6433372	0.69183	D	0.141647	0.82406	D	0.637	0.86130	0.577	0.70217	0.771421751781	0.76932	0.6355052715106795	0.63484	0.953144181106	0.72723	0.730476617813	0.71576	T	0.224677	0.58919	T	0.0714886	0.61029	D	0.181068	0.82055	D	0.650003880487455	0.38462	D	0.741226	0.36032	T	0.7806583	0.82694	0.6754355	0.80942	0.7806583	0.82695	0.6754355	0.80943	-9.217	0.69082	D	.	.	0.649	0.75248	P	.;.	.;.	4.243913	0.64366	24.7	0.99222206331428286	0.55932	0.97904	0.78008	D	AEFDGBCIJ	0.905480	0.85705	D	0.743866619505332	0.82504	7.779129	0.699351536169703	0.82330	7.740222	0.99999999999983	0.74766	0.645754	0.44609	0	0.702456	0.74545	0	0.697927	0.64325	0	0.723	0.93126	0	.	.	5.67	5.67	0.87673	8.017000	0.88732	6.225000	0.55166	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:0.0:0.0:1.0	15.909	0.79242	228	0.91137	.;Suppressor of forked|Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	688.44	35	chr10	103443991	.	T	G	688.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.596;DP=259;ExcessHet=0;FS=1.973;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.579;SOR=0.851	GT:AD:DP:GQ:PL	0/1:37,31:68:99:699,0,849	6	0	1	0
chr10	104124038	104124038	G	A	exonic	SFR1	.	nonsynonymous SNV	SFR1:NM_001002759:exon3:c.G460A:p.A154T,SFR1:NM_001384829:exon3:c.G421A:p.A141T,SFR1:NM_001384830:exon3:c.G421A:p.A141T,SFR1:NM_145247:exon3:c.G421A:p.A141T	.	439	1075	7	1	0	9	0.0041686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00443628000091	.	.	0.0003	0	8.673e-05	0	0	0	0.0011	0.0018	0.000207	32	154602	rs780950370	0.0001	0.0001	4.629e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	8.994e-07	6.625e-05	0.0023	0.0001	0.0001	1.285e-05	0.0002	0.0031	7.088e-05	5.745e-05	0.0019	0.0015	4.813e-05	0	0	0	0	0	0	0	0	0.0031	0.04	0.42199	D	0.095	0.40426	T	0.001	0.07471	B	0.0	0.01387	B	0.006447	0.32025	N	0.329743	0.999995	0.08975	N	0	0.06538	N	0.95	0.43672	T	-0.04	0.07590	N	0.127	0.12484	-1.0266	0.21560	T	0.045	0.19316	T	10	0.020348698	0.00468	T	0.004436	0.10844	T	0.094	0.27141	0.469	0.54214	0.0401082797425	0.02173	0.04524356319126978	0.04468	0.0171548489881	0.01662	0.332061827183	0.15246	T	0.011403	0.10182	T	-0.630918	0.00094	T	-0.692277	0.06258	T	0.104305808398478	0.12823	T	0.347965	0.07682	T	0.04027278	0.05719	0.07140996	0.15287	0.04027278	0.05719	0.07140996	0.15287	-4.234	0.27527	T	.	.	0.078	0.07083	B	.;.	.;.	2.621299	0.34067	19.52	0.99444654076388084	0.64971	0.87085	0.46520	D	AEFBI	0.176258	0.30346	N	-0.529833710084301	0.21121	1.118533	-0.346192121407375	0.26626	1.471994	0.999292008100656	0.39042	0.660085	0.49399	0	0.662677	0.63036	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.72	2.67	0.30756	2.817000	0.47733	3.415000	0.38214	-0.187000	0.09635	0.997000	0.40164	1.000000	0.68203	0.575000	0.30772	0.1524:0.2566:0.591:0.0	7.058	0.24290	42	0.97857	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	727.63	38	chr10	104124038	.	G	A	727.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.885;DP=233;ExcessHet=0;FS=4.231;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.561;SOR=1.367	GT:AD:DP:GQ:PL	0/1:21,27:48:99:738,0,482	6	0	1	0
chr10	106577484	106577484	G	T	exonic	SORCS1	.	nonsynonymous SNV	SORCS1:NM_052918:exon26:c.C3443A:p.A1148E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0101619003028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.31682	T	1.0	0.01155	T	0.023	0.18885	B	0.032	0.22131	B	.	.	.	.	1	0.81001	D	0.345	0.11182	N	2.45	0.15028	T	2.17	0.00335	N	0.143	0.14338	-1.0562	0.12724	T	0.034	0.14683	T	8	0.13044164	0.24824	T	0.010162	0.26368	T	0.138	0.37187	0.146	0.04941	0.043077524339	0.03247	0.49267544841862115	0.49188	.	.	.	.	.	0.054091	0.29627	T	-0.14404	0.29248	T	-0.44468	0.28285	T	0.417344349744827	0.29592	T	0.549145	0.18877	T	0.24528234	0.47485	0.48256972	0.70040	0.24528234	0.47485	0.48256972	0.70041	-2.805	0.08230	T	.	.	0.106	0.19559	B	.;.	.;.	3.300547	0.45302	22.1	0.91122369033809825	0.20375	0.51270	0.28856	D	ALL	0.662506	0.63235	D	-0.00763996353340679	0.41508	2.484097	0.213918023484928	0.50619	3.252074	0.999999999999999	0.74766	0.516213	0.21343	1	0.624306	0.53593	0	0.651303	0.49530	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.423000	0.59610	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.443	0.90621	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	99.38	64	chr10	106577484	.	G	T	99.38	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.289;DP=461;ExcessHet=0;FS=197.014;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=-0.619;SOR=7.167	GT:AD:DP:GQ:PL	0/1:95,26:121:99:108,0,2028	4	0	1	2
chr10	113577182	113577182	C	T	exonic	HABP2	.	nonsynonymous SNV	HABP2:NM_001177660:exon5:c.C286T:p.R96W,HABP2:NM_004132:exon5:c.C364T:p.R122W	.	421	1097	4	0	0	4	0.00181984	.	.	.	865450	HABP2-related_disorder|Thyroid_cancer,_nonmedullary,_5|Thrombophilia_due_to_thrombin_defect|Factor_VII_Marburg_I_Variant_Thrombophilia	.|MONDO:MONDO:0014682,MedGen:C4225292,OMIM:616535|MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050|MedGen:CN068943	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.230	0.0323337413745	0.0018	0.000798722	0.0025	0.0007	0.0013	0	0.0012	0.0031	0.0011	0.0041	0.0024062	372	154602	rs78201625	0.0027	0.0027	0.0026	0.0028	0.0047	0.0026	0.0026	0.0043	0.0042	0.0004	0.0010	0.0024	5.04e-05	0.0014	0.0016	0.0029	0.0018	0.0047	0.0018	0.0018	0.0019	0.0017	0.0029	0.0016	0.0015	0.0026	0.0025	0.0004	0	0.0013	0.0023	0	0.0012	0	0.0029	0.0009	0.0027	0.152	0.27544	T	0.038	0.54934	D	0.997	0.70673	D	0.724	0.55036	P	0.117088	0.19167	N	0.566502	0.999999	0.58761	D	2.535	0.73915	M	0.09	0.61443	T	-1.94	0.45042	N	0.41	0.45426	-0.6619	0.62192	T	0.242	0.61036	T	10	0.014141113	0.00298	T	0.032334	0.54190	D	0.230	0.53062	.	.	0.71767939224	0.71519	0.6921587702223854	0.69155	0.0391274229948	0.04164	0.225515067577	0.01653	T	0.103462	0.41213	T	-0.315412	0.07280	T	-0.225714	0.52187	T	0.0377780197700476	0.03294	T	0.810819	0.46223	T	0.13011986	0.30370	0.16661122	0.38482	0.12904038	0.30150	0.15173118	0.35728	-10.309	0.75852	D	.	.	0.133	0.28892	B	.;.	.;.	4.171290	0.62719	24.5	0.99909431311965646	0.97949	0.50528	0.28683	D	AEFBHCI	0.507746	0.53791	D	0.186741802580345	0.50564	3.245059	0.117442191570917	0.45442	2.807213	0.00331410685711217	0.10051	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.65	3.63	0.40741	0.952000	0.28747	2.315000	0.32100	0.599000	0.40250	0.122000	0.23210	0.990000	0.31317	0.994000	0.71098	0.4819:0.5181:0.0:0.0	10.790	0.45627	906	0.23090	.;EGF-like domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	2352.44	34	chr10	113577182	.	C	T	2352.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.49;DP=390;ExcessHet=0;FS=2.379;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.045;SOR=0.826	GT:AD:DP:GQ:PL	0/1:105,99:204:99:2363,0,2234	6	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	551.54	26	chr10	117341050	.	C	T	551.54	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.739;DP=377;ExcessHet=0.4139;FS=327.124;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.46;ReadPosRankSum=2.46;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,25:83:99:0|1:117341048_C_T:271,0,1640:117341048	3	0	2	2
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	180.29	52	chr10	122983003	.	G	C	180.29	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.551;DP=476;ExcessHet=3.1439;FS=169.002;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=0.185;SOR=10.163	GT:AD:DP:GQ:PL	0/1:54,17:85:8:8,0,572	2	0	4	1
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	5111.58	74	chr10	124989543	.	T	C	5111.58	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-2.47;DP=632;ExcessHet=8.2628;FS=5.084;MLEAC=6;MLEAF=0.429;MQ=49.7;MQRankSum=-8.248;QD=8.28;ReadPosRankSum=0.054;SOR=0.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,33:131:99:0|1:124989533_G_A:1070,0,3925:124989533	1	0	6	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1928.55	63	chr10	124989564	.	TG	T	1928.55	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-3.034;DP=665;ExcessHet=8.2628;FS=4.831;MLEAC=6;MLEAF=0.429;MQ=51.84;MQRankSum=-7.441;QD=3.07;ReadPosRankSum=-2.098;SOR=0.329	GT:AD:DP:GQ:PL	0/1:110,21:131:99:206,0,3711	1	0	6	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3134.26	98	chr10	124994489	.	T	G	3134.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.89;DP=858;ExcessHet=8.2628;FS=29.968;MLEAC=6;MLEAF=0.5;MQ=58.08;MQRankSum=-6.558;QD=3.87;ReadPosRankSum=-4.084;SOR=3.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,25:151:99:0|1:124994489_T_G:670,0,5186:124994489	0	0	6	1
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3924.26	101	chr10	124994501	.	G	A	3924.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.105;DP=905;ExcessHet=8.2628;FS=37.587;MLEAC=6;MLEAF=0.5;MQ=57.54;MQRankSum=-6.141;QD=4.68;ReadPosRankSum=-2.339;SOR=3.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,29:155:99:0|1:124994489_T_G:838,0,5203:124994489	0	0	6	1
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4089.26	106	chr10	124994505	.	A	T	4089.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.53;DP=948;ExcessHet=11.5949;FS=40.326;MLEAC=6;MLEAF=0.5;MQ=57.33;MQRankSum=-6.081;QD=4.77;ReadPosRankSum=-1.376;SOR=3.44	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,30:156:99:0|1:124994489_T_G:873,0,5160:124994489	0	0	6	1
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5877.14	117	chr10	124994530	.	G	A	5877.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.226;DP=1014;ExcessHet=14.2834;FS=51.694;MLEAC=7;MLEAF=0.5;MQ=56.88;MQRankSum=-5.524;QD=6.41;ReadPosRankSum=1.14;SOR=3.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:127,44:171:99:.:.:1445,0,5002:.	0	0	7	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3259.14	118	chr10	124994542	.	C	T	3259.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.257;DP=1044;ExcessHet=14.2834;FS=75.76;MLEAC=7;MLEAF=0.5;MQ=56.81;MQRankSum=-5.466;QD=3.6;ReadPosRankSum=2.25;SOR=4.636	GT:AD:DP:GQ:PL	0/1:123,46:169:99:797,0,3365	0	0	7	0
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3339.14	115	chr10	124994563	.	A	T	3339.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.931;DP=1058;ExcessHet=14.2834;FS=82.34;MLEAC=7;MLEAF=0.5;MQ=56.58;MQRankSum=-5.915;QD=3.6;ReadPosRankSum=2.9;SOR=4.841	GT:AD:DP:GQ:PL	0/1:120,52:172:99:885,0,3139	0	0	7	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8046.14	115	chr10	124994577	.	C	A	8046.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-3.628;DP=1069;ExcessHet=14.2834;FS=72.991;MLEAC=7;MLEAF=0.5;MQ=56.56;MQRankSum=-5.892;QD=8.45;ReadPosRankSum=2.39;SOR=4.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,53:182:99:0|1:124994577_C_A:1797,0,5085:124994577	0	0	7	0
chr10	124994610	124994641	CAAGTAGGGGTCATAAAATATGACGCTGAATC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon5:c.812_843del:p.G271Afs*36,CTBP2:NM_022802:exon5:c.2228_2259del:p.G743Afs*36,CTBP2:NM_001321013:exon6:c.608_639del:p.G203Afs*36,CTBP2:NM_001083914:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001290214:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001290215:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001321012:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001321014:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001329:exon7:c.608_639del:p.G203Afs*36	.	417	925	176	4	0	184	0.0904621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	117.19	99	chr10	124994609	.	GCAAGTAGGGGTCATAAAATATGACGCTGAATC	G	117.19	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.47;DP=780;ExcessHet=0.3476;FS=3.941;MLEAC=2;MLEAF=0.143;MQ=55.92;MQRankSum=-1.465;QD=0.79;ReadPosRankSum=-1.401;SOR=0.814	GT:AD:DP:GQ:PL	0/1:136,13:149:99:107,0,5640	5	0	2	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	.	.	.	.	.	.	.	.	0.4	1686.69	135	chr10	124998077	.	C	G	1686.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.418;DP=938;ExcessHet=2.5225;FS=11.627;MLEAC=5;MLEAF=0.5;MQ=57.98;MQRankSum=-7.482;QD=3.68;ReadPosRankSum=1.65;SOR=1.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,29:198:99:0|1:124998077_C_G:709,0,7003:124998077	1	0	4	2
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	.	.	.	.	.	.	.	.	0.4	1689.69	130	chr10	124998080	.	G	C	1689.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.126;DP=923;ExcessHet=2.5225;FS=10.025;MLEAC=5;MLEAF=0.5;MQ=57.97;MQRankSum=-7.482;QD=3.7;ReadPosRankSum=1.65;SOR=1.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,29:200:99:0|1:124998077_C_G:703,0,7087:124998077	1	0	4	2
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	.	.	.	.	.	.	.	.	0.4	1665.69	125	chr10	124998087	.	T	C	1665.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.215;DP=923;ExcessHet=2.5225;FS=10.025;MLEAC=5;MLEAF=0.5;MQ=58;MQRankSum=-7.618;QD=3.58;ReadPosRankSum=2.67;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,29:200:99:0|1:124998077_C_G:703,0,7093:124998077	1	0	4	2
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	.	.	.	.	.	.	.	.	0.4	1644.69	126	chr10	124998090	.	G	A	1644.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0;DP=931;ExcessHet=2.5225;FS=10.161;MLEAC=5;MLEAF=0.5;MQ=58.03;MQRankSum=-7.662;QD=3.48;ReadPosRankSum=3.3;SOR=1.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,29:202:99:0|1:124998077_C_G:697,0,7160:124998077	1	0	4	2
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	.	.	.	.	.	.	.	.	0.4	1597.76	128	chr10	124998111	.	A	C	1597.76	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.605;DP=935;ExcessHet=2.5225;FS=8.287;MLEAC=5;MLEAF=0.5;MQ=58.06;MQRankSum=-7.794;QD=3.36;ReadPosRankSum=4.81;SOR=1.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,29:200:99:0|1:124998111_A_C:703,0,7060:124998111	1	0	4	2
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	.	.	.	.	.	.	.	.	0.4	1576.76	126	chr10	124998113	.	A	G	1576.76	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.313;DP=933;ExcessHet=2.5225;FS=8.287;MLEAC=5;MLEAF=0.5;MQ=58.06;MQRankSum=-7.838;QD=3.26;ReadPosRankSum=4.74;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,29:204:99:0|1:124998111_A_C:691,0,7227:124998111	1	0	4	2
chr10	125003357	125003357	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C398T:p.T133M,CTBP2:NM_022802:exon2:c.C1814T:p.T605M,CTBP2:NM_001321013:exon3:c.C194T:p.T65M,CTBP2:NM_001083914:exon4:c.C194T:p.T65M,CTBP2:NM_001290214:exon4:c.C194T:p.T65M,CTBP2:NM_001290215:exon4:c.C194T:p.T65M,CTBP2:NM_001321012:exon4:c.C194T:p.T65M,CTBP2:NM_001321014:exon4:c.C194T:p.T65M,CTBP2:NM_001329:exon4:c.C194T:p.T65M	.	424	862	235	1	0	237	0.120857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785	0.338057885342	.	.	1.698e-05	0	0	0	0	3.122e-05	0	0	1.29e-05	2	154602	rs768573864	8.23e-06	8.209e-06	1.092e-05	5.513e-06	8.998e-06	4.39e-06	3.47e-06	4.55e-06	3.32e-06	0	0	0	0	1.905e-05	0	8.998e-06	1.662e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.78490	D	0.041	0.58089	D	0.924	0.73220	P	0.646	0.66904	P	0.000000	0.84330	D	0.047645	1	0.81001	D	1.975	0.53506	M	-1.93	0.84842	D	-5.55	0.89152	D	0.825	0.82964	0.559	0.91361	D	0.703	0.89790	D	10	0.84322035	0.83481	D	0.338058	0.91938	D	0.785	0.92868	0.55	0.66576	0.871695389801	0.87044	0.8858696461970613	0.88555	2.04020034352	0.94242	0.847845315933	0.89288	D	0.769737	0.93827	D	0.312043	0.83899	D	0.210452	0.83688	D	0.965979218482971	0.67436	D	0.89801	0.64352	D	0.83755374	0.86434	0.83579093	0.90562	0.83755374	0.86436	0.83579093	0.90562	-13.803	0.92478	D	.	.	0.915	0.83817	P	.;.;.;.;.;.	.;.;.;.;.;.	5.948125	0.94152	33	0.9988098438978944	0.95733	0.97166	0.73078	D	AEFDGBHCI	0.946022	0.95501	D	0.641428984643706	0.75816	6.373162	0.605033197001249	0.75304	6.287037	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.4	4.4	0.52402	9.992000	0.99232	11.673000	0.94126	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.367	0.87255	923	0.18507	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	182.25	66	chr10	125003357	.	G	A	182.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.444;DP=438;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=59.07;MQRankSum=-8.018;QD=1.6;ReadPosRankSum=-2.033;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,7:64:99:0|1:125003350_T_C:122,0,2372:125003350	5	0	2	0
chr10	125003368	125003368	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C387G:p.D129E,CTBP2:NM_022802:exon2:c.C1803G:p.D601E,CTBP2:NM_001321013:exon3:c.C183G:p.D61E,CTBP2:NM_001083914:exon4:c.C183G:p.D61E,CTBP2:NM_001290214:exon4:c.C183G:p.D61E,CTBP2:NM_001290215:exon4:c.C183G:p.D61E,CTBP2:NM_001321012:exon4:c.C183G:p.D61E,CTBP2:NM_001321014:exon4:c.C183G:p.D61E,CTBP2:NM_001329:exon4:c.C183G:p.D61E	.	430	852	239	1	0	241	0.123907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0278736828157	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52492	D	0.035	0.76473	D	0.057	0.33445	B	0.084	0.45295	B	0.000001	0.84330	D	0.093937	0.998215	0.47795	D	1.255	0.31814	L	0.84	0.47477	T	-3.72	0.73151	D	0.731	0.74280	-0.8081	0.54665	T	0.168	0.50745	T	10	0.57244885	0.65394	D	0.027874	0.50634	D	0.229	0.52916	0.567	0.68901	0.742667268481	0.74035	0.9372575970872389	0.93705	0.839287628383	0.67962	0.822298943996	0.85381	D	0.532581	0.83851	D	-0.00859042	0.50463	T	-0.250116	0.49806	T	0.95814836025238	0.65193	D	0.816918	0.54045	T	0.61954224	0.73738	0.49464875	0.70773	0.61954224	0.73740	0.49464875	0.70773	-13.991	0.95421	D	.	.	0.998	0.97084	P	.;.;.;.;.;.	.;.;.;.;.;.	1.288935	0.16893	12.83	0.98899659867088185	0.48163	0.32479	0.24596	N	AEFDGBHCI	0.425946	0.49050	N	-0.575959099119209	0.19677	1.031687	-0.660887068078052	0.17942	0.9563054	0.999999886987385	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	-4.33	0.03423	-0.760000	0.04861	-7.833000	0.01078	0.662000	0.56354	0.017000	0.19353	0.000000	0.08366	0.996000	0.76049	0.7124:0.0:0.2876:0.0	14.997	0.71096	923	0.18507	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	.	.	.	.	.	.	.	.	0.2143	429.74	67	chr10	125003368	.	G	C	429.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.71;DP=449;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=58.88;MQRankSum=-8.377;QD=2.34;ReadPosRankSum=-2.038;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,11:72:99:0|1:125003350_T_C:238,0,2457:125003350	4	0	3	0
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	818.61	70	chr10	125003381	.	AC	A	818.61	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.088;DP=460;ExcessHet=4.7409;FS=0.879;MLEAC=5;MLEAF=0.357;MQ=58.87;MQRankSum=-8.474;QD=2.25;ReadPosRankSum=-1.303;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,14:74:99:0|1:125003381_AC_A:400,0,2474:125003381	2	0	5	0
chr10	125003410	125003410	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G345C:p.E115D,CTBP2:NM_022802:exon2:c.G1761C:p.E587D,CTBP2:NM_001321013:exon3:c.G141C:p.E47D,CTBP2:NM_001083914:exon4:c.G141C:p.E47D,CTBP2:NM_001290214:exon4:c.G141C:p.E47D,CTBP2:NM_001290215:exon4:c.G141C:p.E47D,CTBP2:NM_001321012:exon4:c.G141C:p.E47D,CTBP2:NM_001321014:exon4:c.G141C:p.E47D,CTBP2:NM_001329:exon4:c.G141C:p.E47D	.	421	824	273	4	0	281	0.145671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0418347474684	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs74705267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.088	0.62352	T	0.043	0.35387	B	0.17	0.48482	B	0.000054	0.53742	D	0.195283	0.999999	0.58761	D	0.98	0.24916	L	0.68	0.51952	T	-2.71	0.59710	D	0.686	0.73555	-0.5581	0.66476	T	0.255	0.62530	T	10	0.56158	0.64817	D	0.041835	0.60142	D	0.261	0.57352	0.434	0.48500	0.881554203603	0.88039	0.972171025341375	0.97206	1.7143308071	0.90477	0.748663306236	0.74250	T	0.62925	0.88488	D	0.139244	0.68253	D	-0.0377626	0.67852	D	0.957904279232025	0.65131	D	0.844016	0.52137	T	0.77675706	0.82455	0.4746194	0.69552	0.77675706	0.82456	0.4746194	0.69552	-14.274	0.93913	D	.	.	0.998	0.98268	P	.;.;.;.;.;.	.;.;.;.;.;.	4.166684	0.62622	24.5	0.99797317996392532	0.88283	0.94867	0.62605	D	AEFDGBHCI	0.781566	0.71311	D	0.172151716873866	0.49864	3.182254	0.205790313476848	0.50167	3.211761	0.999999999997825	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.8	0.42887	5.029000	0.63903	1.014000	0.23354	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9225:0.0:0.0775	13.510	0.60961	923	0.18507	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	313.74	61	chr10	125003410	.	C	G	313.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.1;DP=423;ExcessHet=1.1394;FS=1.933;MLEAC=3;MLEAF=0.214;MQ=58.55;MQRankSum=-7.953;QD=1.79;ReadPosRankSum=1.46;SOR=0.637	GT:AD:DP:GQ:PL	0/1:50,16:66:99:236,0,1408	4	0	3	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	880.62	55	chr10	125003448	.	G	C	880.62	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.012;DP=391;ExcessHet=6.1542;FS=0.585;MLEAC=5;MLEAF=0.417;MQ=58.6;MQRankSum=-7.5;QD=2.92;ReadPosRankSum=1.08;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,15:59:99:0|1:125003425_G_C:497,0,1802:125003425	1	0	5	1
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L,CTBP2:NM_022802:exon2:c.C1721T:p.P574L,CTBP2:NM_001321013:exon3:c.C101T:p.P34L,CTBP2:NM_001083914:exon4:c.C101T:p.P34L,CTBP2:NM_001290214:exon4:c.C101T:p.P34L,CTBP2:NM_001290215:exon4:c.C101T:p.P34L,CTBP2:NM_001321012:exon4:c.C101T:p.P34L,CTBP2:NM_001321014:exon4:c.C101T:p.P34L,CTBP2:NM_001329:exon4:c.C101T:p.P34L	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	628.04	52	chr10	125003450	.	G	A	628.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.277;DP=381;ExcessHet=6.1542;FS=7.682;MLEAC=5;MLEAF=0.417;MQ=58.83;MQRankSum=-7.344;QD=2.12;ReadPosRankSum=0.905;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,11:56:99:0|1:125003425_G_C:326,0,1856:125003425	1	0	5	1
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19,CTBP2:NM_022802:exon2:c.1717delC:p.R573Afs*19,CTBP2:NM_001321013:exon3:c.97delC:p.R33Afs*19,CTBP2:NM_001083914:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290214:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290215:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321012:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321014:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001329:exon4:c.97delC:p.R33Afs*19	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	622.15	49	chr10	125003453	.	CG	C	622.15	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.012;DP=382;ExcessHet=4.7409;FS=7.698;MLEAC=5;MLEAF=0.357;MQ=58.84;MQRankSum=-7.275;QD=2.09;ReadPosRankSum=0.608;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,11:55:99:0|1:125003425_G_C:329,0,1814:125003425	2	0	5	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N,CTBP2:NM_022802:exon2:c.C1711A:p.H571N,CTBP2:NM_001321013:exon3:c.C91A:p.H31N,CTBP2:NM_001083914:exon4:c.C91A:p.H31N,CTBP2:NM_001290214:exon4:c.C91A:p.H31N,CTBP2:NM_001290215:exon4:c.C91A:p.H31N,CTBP2:NM_001321012:exon4:c.C91A:p.H31N,CTBP2:NM_001321014:exon4:c.C91A:p.H31N,CTBP2:NM_001329:exon4:c.C91A:p.H31N	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	649.04	50	chr10	125003460	.	G	T	649.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.579;DP=375;ExcessHet=6.1542;FS=7.7;MLEAC=5;MLEAF=0.417;MQ=58.81;MQRankSum=-7.413;QD=2.25;ReadPosRankSum=-0.178;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,11:57:99:0|1:125003425_G_C:323,0,1898:125003425	1	0	5	1
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T,CTBP2:NM_022802:exon2:c.C1705A:p.P569T,CTBP2:NM_001321013:exon3:c.C85A:p.P29T,CTBP2:NM_001083914:exon4:c.C85A:p.P29T,CTBP2:NM_001290214:exon4:c.C85A:p.P29T,CTBP2:NM_001290215:exon4:c.C85A:p.P29T,CTBP2:NM_001321012:exon4:c.C85A:p.P29T,CTBP2:NM_001321014:exon4:c.C85A:p.P29T,CTBP2:NM_001329:exon4:c.C85A:p.P29T	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	572.04	49	chr10	125003466	.	G	T	572.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.115;DP=368;ExcessHet=6.1542;FS=7.971;MLEAC=5;MLEAF=0.417;MQ=58.91;MQRankSum=-7.549;QD=2.01;ReadPosRankSum=-0.536;SOR=1.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,11:59:99:0|1:125003425_G_C:317,0,1982:125003425	1	0	5	1
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V,CTBP2:NM_022802:exon2:c.G1703T:p.G568V,CTBP2:NM_001321013:exon3:c.G83T:p.G28V,CTBP2:NM_001083914:exon4:c.G83T:p.G28V,CTBP2:NM_001290214:exon4:c.G83T:p.G28V,CTBP2:NM_001290215:exon4:c.G83T:p.G28V,CTBP2:NM_001321012:exon4:c.G83T:p.G28V,CTBP2:NM_001321014:exon4:c.G83T:p.G28V,CTBP2:NM_001329:exon4:c.G83T:p.G28V	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	569.04	51	chr10	125003468	.	C	A	569.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.798;DP=359;ExcessHet=6.1542;FS=10.58;MLEAC=5;MLEAF=0.417;MQ=58.82;MQRankSum=-7.616;QD=1.99;ReadPosRankSum=-0.893;SOR=1.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,11:60:99:0|1:125003425_G_C:314,0,2018:125003425	1	0	5	1
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	560.04	50	chr10	125003470	.	G	T	560.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.632;DP=353;ExcessHet=6.1542;FS=9.008;MLEAC=5;MLEAF=0.417;MQ=58.84;MQRankSum=-7.514;QD=2.04;ReadPosRankSum=-0.874;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,11:59:99:0|1:125003425_G_C:317,0,1976:125003425	1	0	5	1
chr10	125003481	125003481	G	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001363508:exon2:c.C274T:p.Q92X,CTBP2:NM_022802:exon2:c.C1690T:p.Q564X,CTBP2:NM_001321013:exon3:c.C70T:p.Q24X,CTBP2:NM_001083914:exon4:c.C70T:p.Q24X,CTBP2:NM_001290214:exon4:c.C70T:p.Q24X,CTBP2:NM_001290215:exon4:c.C70T:p.Q24X,CTBP2:NM_001321012:exon4:c.C70T:p.Q24X,CTBP2:NM_001321014:exon4:c.C70T:p.Q24X,CTBP2:NM_001329:exon4:c.C70T:p.Q24X	.	405	1111	6	0	0	6	0.002693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000116	0.50451	D	0.191765	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.87	0.88356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.	.;High;.;.;.;.	11.606090	0.99947	54	0.99834869762320466	0.91628	0.98687	0.85586	D	AEFDBHCI	0.360541	0.45047	N	1.17611805747486	0.99300	21.77164	1.01261087230075	0.98856	19.63335	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.818000	0.98285	11.569000	0.93274	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	222.46	44	chr10	125003481	.	G	A	222.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.46;DP=347;ExcessHet=0;FS=16.967;MLEAC=1;MLEAF=0.071;MQ=57.91;MQRankSum=-6.689;QD=3.9;ReadPosRankSum=-1.685;SOR=3.979	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,9:57:99:0|1:125003481_G_A:233,0,1944:125003481	6	0	1	0
chr10	125003491	125003491	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon2:c.T1680A:p.S560R	.	420	1097	5	0	0	5	0.00227376	0.0001	0.09	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.214387794182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.016	0.60972	D	0.813	0.45457	P	0.409	0.44752	B	0.120212	0.19044	N	0.623124	1	0.81001	D	.	.	.	-1.85	0.84267	D	-1.69	0.40274	N	0.82	0.81559	-0.1913	0.77895	T	0.489	0.80565	T	9	0.75226426	0.75723	D	0.214388	0.87455	D	0.477	0.76881	0.427	0.47350	0.792541464948	0.79061	0.6253988332573677	0.62472	0.162367538727	0.18315	0.613913297653	0.54869	T	.	.	.	0.0835129	0.62450	D	-0.117816	0.61982	T	0.946590483188629	0.62503	D	0.790821	0.43180	T	.	.	.	.	.	.	.	.	-6.658	0.51493	T	.	.	0.947	0.86575	P	.	.	3.457030	0.48168	22.6	0.99726346640516361	0.82406	0.87670	0.47287	D	AEFDBHCI	0.334004	0.43291	N	0.43266425900824	0.63228	4.552434	0.267884646439281	0.53674	3.535174	0.999994960590163	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	0.586	0.16618	2.212000	0.42474	2.756000	0.34570	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.7154:0.0:0.2846:0.0	9.132	0.36011	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	233.25	43	chr10	125003491	.	A	T	233.25	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.81;DP=323;ExcessHet=0;FS=29.144;MLEAC=1;MLEAF=0.1;MQ=59.21;MQRankSum=-6.402;QD=4.32;ReadPosRankSum=-1.02;SOR=4.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,9:54:99:0|1:125003481_G_A:242,0,1862:125003481	4	0	1	2
chr10	125003493	125003493	-	TCACAAATTCTGTCCAA	splicing	CTBP2	NM_001290214:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321013:exon3:c.59-1->TTGGACAGAATTTGTGA;NM_001329:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001290215:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321012:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321014:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001083914:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001363508:exon2:c.263-1->TTGGACAGAATTTGTGA;NM_022802:exon2:c.1679-1->TTGGACAGAATTTGTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	194.2	43	chr10	125003493	.	C	CTCACAAATTCTGTCCAA	194.2	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.54;DP=319;ExcessHet=0;FS=27.243;MLEAC=1;MLEAF=0.1;MQ=59.07;MQRankSum=-7.089;QD=3.73;ReadPosRankSum=-2.503;SOR=4.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,8:52:99:0|1:125003481_G_A:203,0,1823:125003481	4	0	1	2
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.2857	559.84	107	chr10	125039033	.	T	A	559.84	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.429;DP=535;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=58.53;MQRankSum=-9.804;QD=1.29;ReadPosRankSum=-0.327;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,14:137:99:0|1:125039033_T_A:166,0,5055:125039033	3	0	4	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	559.84	107	chr10	125039035	.	T	C	559.84	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.575;DP=527;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=58.5;MQRankSum=-9.804;QD=1.29;ReadPosRankSum=-0.048;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,14:137:99:0|1:125039033_T_A:166,0,5055:125039033	3	0	4	0
chr10	125859758	125859758	C	T	exonic	DHX32	.	nonsynonymous SNV	DHX32:NM_018180:exon3:c.G694A:p.V232M	.	430	1090	2	0	0	2	0.00091659	.	.	.	1462179	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.184	0.00864235651168	7.7e-05	.	0.0003	0	8.637e-05	0.0001	0	0.0001	0	0.0015	0.0002199	34	154602	rs368692405	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0011	0.0010	5.974e-05	4.472e-05	0.0008	0.0003	0	0.0017	7.914e-05	0.0004	0.0013	0.0001	0.0001	6.427e-05	0.0002	0.0006	7.583e-05	6.287e-05	0.0002	9.007e-05	2.416e-05	0	6.545e-05	0.0006	0	0	0	0.0002	0	0.0006	0.039	0.42487	D	0.08	0.41913	T	0.93	0.51791	P	0.191	0.36391	B	0.065132	0.21903	N	0.478949	0.752039	0.29628	N	2.455	0.71248	M	2.14	0.19450	T	-1.21	0.30762	N	0.258	0.29197	-0.8975	0.48244	T	0.126	0.43112	T	10	0.04130611	0.02775	T	0.008642	0.22829	T	0.184	0.45763	.	.	0.446510307777	0.44274	0.36675737830681443	0.36589	0.281262430898	0.30601	0.344441562891	0.17100	T	0.141621	0.47677	T	-0.449549	0.01136	T	-0.464074	0.26158	T	0.0606883793537044	0.07277	T	0.846115	0.52582	T	0.05722129	0.11359	0.07216455	0.15538	0.05722129	0.11359	0.07216455	0.15538	-9.133	0.68549	D	.	.	0.117	0.23918	B	.	.	3.484000	0.48668	22.7	0.91467083949721328	0.20738	0.52409	0.29125	D	AEFGBI	0.202316	0.32891	N	-0.49159725905741	0.22356	1.193124	-0.565432884083291	0.20396	1.098729	0.999005654070081	0.38186	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.99	3.12	0.34986	1.079000	0.30378	3.938000	0.40583	-0.889000	0.02397	0.466000	0.26691	0.995000	0.32472	0.871000	0.41478	0.2119:0.7881:0.0:0.0	16.121	0.81166	952	0.10565	Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1924.45	35	chr10	125859758	.	C	T	1924.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.57;DP=341;ExcessHet=0;FS=0.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.303;SOR=0.622	GT:AD:DP:GQ:PL	0/1:80,81:161:99:1935,0,1700	6	0	1	0
chr10	133237921	133237921	C	T	exonic	VENTX	.	nonsynonymous SNV	VENTX:NM_014468:exon1:c.C7T:p.L3F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0027	0.00279553	0.0015	0.0223	0.0003	0	0	7.574e-05	0	0	0.0009832	152	154602	rs201492574	0.0004	0.0004	0.0005	0.0003	0.0150	0.0004	0.0004	0.0139	0.0135	0.0150	0.0004	3.865e-05	0	0	0.0005	9.94e-06	0.0008	0	0.0037	0.0037	0.0037	0.0036	0.0130	0.0034	0.0033	0.0121	0.0117	0.0130	0	0.0007	0	0	0	0	5.88e-05	0.0009	0	0.009	0.57480	D	0.053	0.47336	T	0.389	0.34565	B	0.099	0.30579	B	0.907753	0.08574	U	0.936230	1	0.08975	N	0.55	0.14455	N	0.49	0.55775	T	-0.66	0.19085	N	0.09	0.06854	-1.0448	0.15884	T	0.056	0.23639	T	10	0.004489094	0.00092	T	.	.	.	0.060	0.17295	.	.	0.399889258716	0.39604	0.3620558094306964	0.36119	0.168808123631	0.19032	0.51234459877	0.40550	T	0.002728	0.02125	T	-0.539704	0.00336	T	-0.536347	0.18658	T	0.00970941713085676	0.00127	T	0.39826	0.10085	T	0.07141933	0.15810	0.07103458	0.15162	0.07141933	0.15810	0.07103458	0.15162	-4.558	0.31640	T	.	.	0.074	0.05060	B	.	.	1.322736	0.17269	13.06	0.94697557191724124	0.25346	0.14372	0.18368	N	AEFDBHI	0.044818	0.07259	N	-0.887741267168794	0.11134	0.5356485	-0.992842526721353	0.09945	0.4978343	0.999950365979662	0.48110	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	1.9	0.893	0.18369	1.057000	0.30102	0.544000	0.19360	0.489000	0.22316	0.001000	0.13787	0.014000	0.20376	0.002000	0.04165	0.3414:0.6585:0.0:0.0	5.232	0.14747	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	0.000545	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	243.27	18	chr10	133237921	.	C	T	243.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.548;DP=125;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=2.54;SOR=0.859	GT:AD:DP:GQ:PL	0/1:10,11:21:99:253,0,250	5	0	1	1
chr10	133240280	133240280	A	G	exonic	VENTX	.	nonsynonymous SNV	VENTX:NM_014468:exon3:c.A751G:p.M251V	.	421	1040	61	0	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0027	0.00559105	0.0065	0.0011	0.0042	0	0.0002	0.0053	0.0040	0.0235	0.0053298	824	154602	rs148086757	0.0049	0.0049	0.0043	0.0056	0.0441	0.0048	0.0048	0.0395	0.0378	0.0017	0.0062	0.0122	5.087e-05	0.0002	0.0441	0.0037	0.0069	0.0211	0.0049	0.0049	0.0046	0.0052	0.0150	0.0046	0.0045	0.0122	0.0112	0.0008	0.0650	0.0130	0.0161	0.0002	9.445e-05	0.0514	0.0043	0.0066	0.0150	0.006	0.61437	D	0.122	0.35710	T	0.0	0.02946	B	0.001	0.04355	B	0.176135	0.17233	U	0.369811	1	0.08975	N	0	0.06538	N	-2.59	0.89822	D	-0.17	0.09627	N	0.122	0.11340	-0.6701	0.61824	T	0.301	0.67232	T	10	0.0030415654	0.00050	T	.	.	.	0.141	0.37795	.	.	0.460085558651	0.45632	0.09206645746996407	0.09139	0.0854921300487	0.09661	0.353580713272	0.18448	T	0.001414	0.00874	T	-0.475129	0.00790	T	-0.43901	0.28920	T	0.00320643787163532	0.00034	T	0.207379	0.02472	T	0.23485649	0.46313	0.116778955	0.28192	0.23485649	0.46313	0.116778955	0.28191	-2.023	0.03269	T	.	.	0.070	0.03515	B	.	.	-0.060916	0.03882	0.846	0.44043438297786625	0.03358	0.00875	0.03461	N	AEFBI	0.026237	0.01933	N	-1.29613371137322	0.03722	0.1667575	-1.32367044325818	0.04126	0.1939608	0.315819230129744	0.19334	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	2.96	0.867	0.18222	-0.336000	0.07908	-0.342000	0.09808	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4764:0.5236:0.0:0.0	7.658	0.27555	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.039859	0.071429	0.047684	0.055556	0.000000	0.017241	0.015337	0.015152	0.08333	568.27	30	chr10	133240280	.	A	G	568.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.198;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-1.81;SOR=0.76	GT:AD:DP:GQ:PL	0/1:23,24:47:99:578,0,541	5	0	1	1
chr11	1095935	1095935	A	T	exonic	MUC2	.	unknown	UNKNOWN	.	564	957	1	0	0	1	0.000522193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1306026835	0.0001	0.0005	0.0001	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0.0003	0.0004	0.0001	0.0004	0.0002	0	0.0001	0.0002	5.871e-05	0.0003	0.0006	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	0.0002	0.0005	0	0.0004	0	0.0005	0	0	0.0002	0.0011	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	.	.	.	.	.	.	.	.	0.07143	2441.44	83	chr11	1095935	.	A	T	2441.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.98;DP=875;ExcessHet=0;FS=42.65;MLEAC=1;MLEAF=0.071;MQ=52.61;MQRankSum=-3.36;QD=8.57;ReadPosRankSum=-3.063;SOR=2.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,79:285:99:0|1:1095935_A_T:2452,0,8332:1095935	6	0	1	0
chr11	1095938	1096006	ACACCCATCACCACCACCACCATGGTGACCCCAACCCCAACACCCACTGGAACACAGACCCAAACCCCA	-	exonic	MUC2	.	unknown	UNKNOWN	.	571	950	1	0	0	1	0.000526039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.219e-05	6.392e-05	1.509e-05	9.232e-06	0.0001	7.22e-06	5.84e-06	3.949e-05	2.351e-05	0	5.846e-05	0	0.0001	0	0	6.855e-06	3.669e-05	1.293e-05	2.826e-05	0.0001	0	5.98e-05	3.728e-05	7.51e-06	4.08e-06	6.18e-06	2.31e-06	0	0	0	0	0	0.0002	0	3.728e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2319.4	83	chr11	1095937	.	GACACCCATCACCACCACCACCATGGTGACCCCAACCCCAACACCCACTGGAACACAGACCCAAACCCCA	G	2319.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.92;DP=1040;ExcessHet=0;FS=16.661;MLEAC=1;MLEAF=0.071;MQ=54.92;MQRankSum=-6.154;QD=5.34;ReadPosRankSum=-4.119;SOR=1.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:343,91:434:99:0|1:1095935_A_T:2330,0,14022:1095935	6	0	1	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	39919.1	131	chr11	1095948	.	C	*	39919.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.05;DP=1199;ExcessHet=0;FS=2.133;MLEAC=1;MLEAF=0.083;MQ=54.53;MQRankSum=2.05;QD=34.83;ReadPosRankSum=1.74;SOR=0.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,88:282:99:1|0:1095935_A_T:10052,6981,8348:1095935	5	0	1	1
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	46453.7	157	chr11	1095999	.	A	*	46453.7	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.97;DP=1321;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.31;MQRankSum=-0.434;QD=29.49;ReadPosRankSum=1.38;SOR=0.355	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,88:316:99:1|0:1095935_A_T:11276,8258,9524:1095935	5	0	1	1
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	976.35	430	chr11	1096155	.	C	*	976.35	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.973;DP=2845;ExcessHet=4.7409;FS=0;MLEAC=4;MLEAF=0.333;MQ=55.48;MQRankSum=2.2;QD=0.6;ReadPosRankSum=-3.121;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:170,125:311:99:.:.:2760,0,11798:.	2	0	4	1
chr11	1096168	1096168	G	0	exonic	MUC2	.	.	.	.	1	110	14	0	101	115	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	641.04	430	chr11	1096168	.	G	*	641.04	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.083;DP=2487;ExcessHet=2.5225;FS=0;MLEAC=3;MLEAF=0.3;MQ=57.73;MQRankSum=-1.049;QD=0.42;ReadPosRankSum=2.41;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,125:432:99:0|1:1096164_CTA_C:4352,0,11940:1096164	2	0	3	2
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6240.31	418	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	6240.31	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.5;DP=2446;ExcessHet=1.1394;FS=1.184;MLEAC=3;MLEAF=0.375;MQ=57.8;MQRankSum=-3.755;QD=5.58;ReadPosRankSum=0.613;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,125:432:99:0|1:1096164_CTA_C:4352,0,11940:1096164	2	0	2	3
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4099.79	418	chr11	1096180	.	C	*	4099.79	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.011;DP=2276;ExcessHet=0.4813;FS=1.764;MLEAC=3;MLEAF=0.3;MQ=57.14;MQRankSum=0.705;QD=3.46;ReadPosRankSum=0.82;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:249,126:381:99:1|0:1096105_C_G:4403,0,9868:1096105	2	0	3	2
chr11	1096749	1096749	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	858	658	6	0	0	6	0.00453858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.0083	0.0023	0.0030	0.0089	0.0025	0.0025	0.0082	0.0079	0.0036	0.0068	0.0036	0.0056	0.0032	0.0043	0.0016	0.0024	0.0089	0	0.0009	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	.	.	.	.	.	.	.	.	0.1429	147.05	30	chr11	1096749	.	C	G	147.05	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.53;DP=196;ExcessHet=0.3476;FS=27.262;MLEAC=2;MLEAF=0.143;MQ=50.45;MQRankSum=-2.264;QD=2.16;ReadPosRankSum=-2.373;SOR=4.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,4:38:66:0|1:1096735_G_A:66,0,1354:1096735	5	0	2	0
chr11	1108182	1108182	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	399	1110	13	0	0	13	0.00582176	.	.	.	2806474	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.043	0.0124149248463	0.0024	0.00179712	0.0020	0.0006	0.0023	0.0002	0.0003	0.0028	0.0034	0.0005	0.001934	299	154602	rs72655352	0.0022	0.0022	0.0022	0.0022	0.0080	0.0022	0.0021	0.0061	0.0055	0.0005	0.0021	0.0054	0	0.0002	0.0080	0.0024	0.0030	0.0008	0.0018	0.0018	0.0020	0.0017	0.0031	0.0017	0.0016	0.0024	0.0021	0.0005	0	0.0031	0.0055	0	9.416e-05	0.0034	0.0026	0.0066	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.013587	0.005882	0.000000	0.000000	0.006098	0.003788	0.1667	2860.9	34	chr11	1108182	.	C	T	2860.9	.	AC=2;AF=0.167;AN=12;DP=268;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.79;SOR=0.935	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2880,270,0	5	1	0	1
chr11	4652992	4652992	G	A	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.G466A:p.A156T	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	7.7e-05	0.00259585	0.0013	0	8.675e-05	0	0	1.527e-05	0	0.0115	0.0012031	186	154602	rs202113356	0.0006	0.0006	0.0003	0.0009	0.0099	0.0006	0.0006	0.0094	0.0091	5.984e-05	0	0	7.567e-05	0	0.0003	2.258e-05	0.0008	0.0099	0.0003	0.0003	0.0002	0.0005	0.0097	0.0003	0.0002	0.0075	0.0067	2.407e-05	0	0	0	0	0	0	2.94e-05	0	0.0097	0.282	0.15406	T	0.279	0.21745	T	.	.	.	.	.	.	0.329104	0.14144	N	0.646617	1	0.20843	N	.	.	.	1.19	0.37578	T	-0.1	0.08495	N	0.064	0.03613	-1.0442	0.16059	T	0.056	0.23753	T	10	0.0030475557	0.00050	T	.	.	.	0.085	0.24743	.	.	0.391000631824	0.38715	0.20668515969704054	0.20584	0.125539633246	0.14154	0.314813524485	0.12635	T	.	.	.	-0.562772	0.00244	T	-0.571765	0.15288	T	0.0133404401252929	0.00240	T	0.240376	0.03449	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10159	B	.	.	2.389843	0.30685	18.51	0.98572996590887241	0.43128	0.17530	0.19877	N	AEFBI	0.246965	0.36763	N	-0.591447620681131	0.19203	1.003195	-0.473395872894907	0.22889	1.245522	0.0161419512914704	0.12797	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	4.04	0.46262	0.237000	0.17763	.	.	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.961000	0.51904	0.0921:0.0:0.9079:0.0	11.403	0.49124	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	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.07143	2407.49	84	chr11	4652992	.	G	A	2407.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.798;DP=626;ExcessHet=0;FS=8.54;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.413;SOR=0.903	GT:AD:DP:GQ:PL	0/1:92,91:183:99:2418,0,2462	6	0	1	0
chr11	4923931	4923931	C	T	exonic	OR51G1	.	nonsynonymous SNV	OR51G1:NM_001005237:exon1:c.G409A:p.V137I	.	415	1090	17	0	0	17	0.00773782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0032	0.00379393	0.0027	0.0081	0.0016	0.0002	0	0.0002	0.0066	0.0122	0.0023997	371	154602	rs145607331	0.0011	0.0011	0.0008	0.0015	0.0119	0.0011	0.0011	0.0113	0.0111	0.0072	0.0015	0.0004	5.039e-05	0	0.0036	0.0002	0.0021	0.0119	0.0033	0.0033	0.0033	0.0033	0.0119	0.0031	0.0030	0.0094	0.0085	0.0093	0	0.0026	0	0	0	0	0.0002	0.0024	0.0119	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.200551	0.16611	N	0.437363	0.970807	0.25685	N	-1.29	0.00724	N	.	.	.	.	.	.	.	.	-1.0038	0.28814	T	0.006	0.01907	T	10	0.011270016	0.00247	T	.	.	.	.	.	.	.	.	.	0.12785814721803207	0.12710	.	.	0.21312341094	0.00951	T	2.86E-4	0.00069	T	-0.787337	0.00010	T	-0.893344	0.00550	T	0.00573077374390745	0.00063	T	0.354964	0.08031	T	0.01774362	0.00299	0.03550361	0.02815	0.01774362	0.00299	0.03550361	0.02815	-1.032	0.01035	T	.	.	0.069	0.03128	B	.	.	-1.391376	0.00366	0.007	0.53104431938590912	0.04875	0.01281	0.04472	N	AEFGBI	0.037579	0.05190	N	-2.35276002061783	0.00035	0.001487029	-2.32492563772922	0.00058	0.002563659	0.352579824946261	0.19697	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.2	-8.41	0.00840	-2.223000	0.01297	.	.	-2.793000	0.00187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1062:0.0998:0.794	12.105	0.53106	744	0.52588	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	0.005539	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.026515	0.07143	1639.45	33	chr11	4923931	.	C	T	1639.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=313;ExcessHet=0;FS=2.325;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.751;SOR=0.48	GT:AD:DP:GQ:PL	0/1:61,64:125:99:1650,0,1492	6	0	1	0
chr11	6391414	6391414	G	A	exonic	SMPD1	.	nonsynonymous SNV	SMPD1:NM_000543:exon2:c.G349A:p.V117M,SMPD1:NM_001007593:exon2:c.G346A:p.V116M,SMPD1:NM_001318087:exon2:c.G349A:p.V117M,SMPD1:NM_001365135:exon2:c.G349A:p.V117M	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	321148	not_provided|Niemann-Pick_disease,_type_A|SMPD1-related_disorder|Niemann-Pick_disease,_type_B	MedGen:C3661900|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292|.|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.163	0.0597921256022	7.7e-05	0.000199681	0.0003	0	0	0.0030	0	7.524e-05	0	0	0.0002135	33	154602	rs202206564	6.435e-05	6.498e-05	7.629e-05	5.229e-05	0.0016	5.365e-05	4.98e-05	0.0013	0.0011	2.991e-05	2.236e-05	0	0.0016	0	0	2.338e-05	6.636e-05	0	0.0001	0.0001	8.993e-05	0.0001	0.0031	7.086e-05	5.743e-05	0.0019	0.0016	2.405e-05	0	0	0	0.0031	0	0	0	0	0	0.59	0.14843	T	0.331	0.19908	T	.	.	.	.	.	.	0.328735	0.14150	N	0.678397	0.999998	0.08975	N	.	.	.	-3.68	0.95282	D	-0.16	0.09460	N	0.099	0.08088	-0.5519	0.66715	T	0.594	0.85504	D	10	0.0060907006	0.00137	T	0.059792	0.67784	D	0.163	0.42028	.	.	0.624981205754	0.62193	0.7180093980700115	0.71743	0.220064939331	0.24547	0.268054097891	0.05889	T	.	.	.	-0.435427	0.01376	T	-0.395626	0.33893	T	0.0269964577788827	0.01543	T	0.612239	0.23293	T	0.08992718	0.21027	0.1301431	0.31277	0.088014305	0.20517	0.13309537	0.31922	-4.875	0.37674	T	0.2361679804967652	0.31980	0.072	0.12323	B	.;.	.;.	-0.596172	0.01582	0.106	0.86304210873781795	0.16447	0.03195	0.08186	N	AEFDGBCI	0.086795	0.17599	N	-1.87437158353168	0.00387	0.01665497	-1.94512526157792	0.00398	0.01757554	0.999999971562878	0.74766	0.764865	0.99124	0	0.662677	0.63036	0	0.731555	0.93304	0	0.651492	0.60203	0	.	.	5.11	-6.62	0.01646	-1.239000	0.03026	-1.364000	0.05615	-1.571000	0.00933	0.000000	0.06391	0.000000	0.08366	0.299000	0.24476	0.0937:0.185:0.7213:0.0	15.229	0.73061	804	0.43891	Saposin B type domain|Saposin B type domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2455.44	34	chr11	6391414	.	G	A	2455.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.28;DP=377;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.755;SOR=0.713	GT:AD:DP:GQ:PL	0/1:95,96:191:99:2466,0,2153	6	0	1	0
chr11	6795587	6795587	G	T	exonic	OR6A2	.	nonsynonymous SNV	OR6A2:NM_003696:exon1:c.C122A:p.T41N	.	422	1097	2	1	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00808437412965	0.0009	.	0.0010	0.0003	0.0002	0	0.0002	0.0017	0.0022	0.0001	0.0010284	159	154602	rs142218013	0.0015	0.0015	0.0015	0.0015	0.0017	0.0015	0.0014	0.0016	0.0016	0.0004	0.0003	0.0071	0	0.0002	0.0012	0.0017	0.0014	0.0001	0.0011	0.0011	0.0012	0.0010	0.0018	0.0010	0.0009	0.0015	0.0014	0.0002	0	0.0006	0.0089	0	0.0002	0	0.0018	0	0	0.008	0.58626	D	0.061	0.45530	T	0.949	0.53761	P	0.443	0.45803	B	0.012800	0.29054	N	0.237413	1	0.08975	N	1.715	0.44382	L	7.31	0.00421	T	-2.06	0.47175	N	0.32	0.36043	-0.7995	0.55173	T	0.001	0.00408	T	10	0.011798024	0.00256	T	0.008084	0.21418	T	0.067	0.19503	.	.	0.177238962908	0.17366	0.26631276117971825	0.26544	0.00846068703756	0.00769	0.341105729342	0.16603	T	0.083859	0.37150	T	-0.582988	0.00185	T	-0.614814	0.11598	T	0.0108142713473512	0.00153	T	0.727427	0.34191	T	0.5998655	0.72684	0.67280483	0.80796	0.5998655	0.72686	0.67280483	0.80797	-9.712	0.72170	D	.	.	0.331	0.55617	B	.;.	.;.	2.725231	0.35659	19.96	0.95917807073870121	0.28178	0.22954	0.21918	N	AEFI	0.109436	0.21737	N	-0.417164109668007	0.24867	1.345794	-0.534820929010588	0.21209	1.146316	3.5965086456033E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.95	3.08	0.34576	1.105000	0.30699	-0.469000	0.08990	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1706:0.0:0.8294:0.0	9.705	0.39375	539	0.73055	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008621	0.000000	0.000000	0.07143	1303.44	37	chr11	6795587	.	G	T	1303.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.101;DP=360;ExcessHet=0;FS=1.589;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.452;SOR=0.889	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1314,0,1386	6	0	1	0
chr11	6892118	6892118	T	C	exonic	OR2D2	.	nonsynonymous SNV	OR2D2:NM_003700:exon1:c.A383G:p.N128S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00162388941275	.	0.000998403	0.0004	0	0	0.0057	0	0	0	0	0.0003558	55	154602	rs202241668	0.0002	0.0002	0.0002	0.0002	0.0070	0.0002	0.0002	0.0063	0.0060	0	0	0	0.0070	0	0	4.497e-06	0.0001	1.159e-05	0.0002	0.0002	0.0001	0.0002	0.0051	0.0001	0.0001	0.0035	0.0030	2.41e-05	0	0	0	0.0051	0	0	0	0	0	0.064	0.36509	T	0.198	0.27767	T	0.002	0.09854	B	0.003	0.08700	B	0.051562	0.22970	N	0.371511	1	0.08975	N	1.7	0.43825	L	8.05	0.00310	T	-1.12	0.28906	N	0.062	0.03392	-0.9485	0.41228	T	0.000	0.00152	T	10	0.012591302	0.00270	T	0.001624	0.02625	T	0.037	0.09474	.	.	0.468917363747	0.46519	0.10801520201019646	0.10730	0.0140390453475	0.01334	0.202818870544	0.00543	T	0.003441	0.02849	T	-0.677718	0.00049	T	-0.743521	0.03743	T	0.0253410849692384	0.01318	T	0.347765	0.07665	T	0.058911823	0.11908	0.06495956	0.13095	0.058911823	0.11907	0.06495956	0.13095	-4.951	0.36303	T	.	.	0.088	0.11654	B	.	.	0.783403	0.11534	8.133	0.91780050577874661	0.21084	0.28800	0.23652	N	AEFBI	0.096831	0.19541	N	-0.821022765969884	0.12774	0.6248286	-0.770218922462558	0.15226	0.7997365	3.50053655795772E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.23	2.78	0.31702	1.779000	0.38254	0.543000	0.19351	-0.306000	0.06133	0.233000	0.24675	0.000000	0.08366	0.779000	0.36868	0.0:0.1836:0.0:0.8164	7.990	0.29398	502	0.75873	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2550.44	39	chr11	6892118	.	T	C	2550.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.14;DP=395;ExcessHet=0;FS=0.548;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.228;SOR=0.778	GT:AD:DP:GQ:PL	0/1:81,102:183:99:2561,0,1822	6	0	1	0
chr11	7649620	7649620	-	C	exonic	PPFIBP2	.	frameshift insertion	PPFIBP2:NM_001256569:exon17:c.1659dupC:p.H555Pfs*9,PPFIBP2:NM_001256568:exon18:c.1752dupC:p.H586Pfs*9,PPFIBP2:NM_001351858:exon19:c.1857dupC:p.H621Pfs*9,PPFIBP2:NM_001351860:exon19:c.1881dupC:p.H629Pfs*9,PPFIBP2:NM_001351861:exon19:c.1857dupC:p.H621Pfs*9,PPFIBP2:NM_001351857:exon20:c.1890dupC:p.H632Pfs*9,PPFIBP2:NM_001351859:exon20:c.1890dupC:p.H632Pfs*9,PPFIBP2:NM_001351854:exon21:c.2088dupC:p.H698Pfs*9,PPFIBP2:NM_001351856:exon21:c.2094dupC:p.H700Pfs*9,PPFIBP2:NM_003621:exon21:c.2088dupC:p.H698Pfs*9,PPFIBP2:NM_001351853:exon22:c.2121dupC:p.H709Pfs*9,PPFIBP2:NM_001351855:exon22:c.2121dupC:p.H709Pfs*9,PPFIBP2:NM_001351862:exon22:c.2088dupC:p.H698Pfs*9	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205598601	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.577e-06	6.568e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3205.41	59	chr11	7649620	.	A	AC	3205.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.047;DP=553;ExcessHet=0;FS=0.487;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.221;SOR=0.74	GT:AD:DP:GQ:PL	0/1:106,123:229:99:3216,0,2678	6	0	1	0
chr11	9574409	9574409	C	T	exonic	WEE1	.	nonsynonymous SNV	WEE1:NM_003390:exon1:c.C476T:p.A159V	.	425	1081	15	1	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.161941536583	.	0.00239617	0	0	0	0	.	0	.	0	0.0015752	41	26028	rs562855683	0.0045	0.0041	0.0045	0.0046	0.0092	0.0044	0.0044	0.0081	0.0077	0.0005	0.0015	0.0044	0	0.0097	0.0021	0.0046	0.0030	0.0092	0.0038	0.0038	0.0038	0.0038	0.0067	0.0036	0.0035	0.0051	0.0049	0.0009	0	0.0021	0.0026	0	0.0091	0	0.0055	0.0019	0.0067	0.283	0.15354	T	0.285	0.21343	T	0.273	0.31830	B	0.028	0.21332	B	0.353298	0.13782	N	0.705645	0.995463	0.23284	N	0	0.06538	N	0.69	0.51714	T	-0.51	0.15986	N	0.06	0.03175	-1.0927	0.05097	T	0.052	0.21960	T	10	0.00449422	0.00092	T	0.161942	0.84162	D	0.014	0.01968	.	.	0.138757226776	0.13463	0.08672547192164567	0.08606	1.28515269646	0.82641	0.843092679977	0.88566	D	0.087563	0.37969	T	-0.573349	0.00211	T	-0.591507	0.13536	T	0.0497972691426054	0.05464	T	0.430157	0.11673	T	0.030152809	0.02631	0.034189638	0.02442	0.030152809	0.02630	0.034189638	0.02442	-5.603	0.42820	T	.	.	0.100	0.16929	B	.	.	1.112831	0.14983	11.49	0.98118912382833978	0.38416	0.15369	0.18878	N	AEFDBHCIJ	0.064888	0.12625	N	-0.924980351200793	0.10260	0.4894477	-0.909819035814057	0.11862	0.6069085	0.999999528256407	0.74766	0.733237	0.96898	0	0.218748	0.04544	0	0.600757	0.32118	0	0.249971	0.05119	0	.	.	3.44	2.52	0.29514	-0.263000	0.08695	-0.225000	0.10728	0.233000	0.18164	0.001000	0.13787	0.000000	0.08366	0.181000	0.21328	0.0:0.6775:0.2026:0.1199	5.587	0.16559	641	0.64016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	502.53	12	chr11	9574409	.	C	T	502.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=172;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.265;SOR=0.859	GT:AD:DP:GQ:PL	0/1:20,22:42:99:513,0,383	6	0	1	0
chr11	10853306	10853306	C	T	exonic	ZBED5	.	nonsynonymous SNV	ZBED5:NM_001143667:exon3:c.G1640A:p.S547N,ZBED5:NM_021211:exon3:c.G1640A:p.S547N	.	435	1018	63	6	0	75	0.0355282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0018	0.00359425	0.0089	0.0024	0.0027	0	0	0.0033	0.0102	0.0179	0.0018693	289	154602	rs149344014	0.0040	0.0039	0.0036	0.0045	0.0253	0.0040	0.0039	0.0219	0.0206	0.0005	0.0048	0.0039	0	0.0006	0.0253	0.0034	0.0049	0.0163	0.0031	0.0031	0.0027	0.0036	0.0180	0.0029	0.0028	0.0150	0.0138	0.0006	0.0175	0.0052	0.0026	0.0002	0.0007	0.0170	0.0034	0.0061	0.0180	0.297	0.14645	T	0.275	0.22016	T	0.838	0.46404	P	0.429	0.45365	B	.	.	.	.	0.965601	0.25931	N	1.195	0.30194	L	2.07	0.20387	T	-0.25	0.11008	N	0.132	0.12770	-1.1044	0.03598	T	0.030	0.13067	T	9	0.005743891	0.00128	T	.	.	.	0.051	0.14325	.	.	0.152612264143	0.14878	0.3926522387171367	0.39180	.	.	0.546009838581	0.45294	T	0.011072	0.09929	T	-0.545125	0.00312	T	-0.542837	0.18018	T	0.0192128586043698	0.00628	T	0.316468	0.06291	T	0.099952675	0.23594	0.09674408	0.23000	0.099952675	0.23594	0.09674408	0.22999	-3.472	0.16042	T	.	.	0.097	0.15698	B	.;.	.;.	1.524214	0.19565	14.33	0.9633974236410533	0.29476	0.70214	0.34498	D	AEFBI	0.081199	0.16429	N	0.0833933956385252	0.45690	2.821236	0.136925729028954	0.46454	2.891047	0.999998665454906	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.88	3.88	0.43959	0.847000	0.27348	1.032000	0.23488	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	11.645	0.50517	587	0.69154	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012821	0.000000	0.000000	0.000000	0.100000	0.000000	0.033333	0.044118	0.1429	3673.22	37	chr11	10853306	.	C	T	3673.22	.	AC=2;AF=0.143;AN=14;DP=319;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=59.93;QD=34.01;SOR=0.769	GT:AD:DP:GQ:PL	1/1:0,108:108:99:3694,324,0	6	1	0	0
chr11	17629295	17629295	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon39:c.G6727A:p.A2243T,OTOG:NM_001292063:exon40:c.G6691A:p.A2231T	Deafness, autosomal recessive 18B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.014732550424	.	.	0.0006	0	0	0	0	0	0	0.0011	5.17e-05	8	154602	rs760275132	3.648e-05	3.489e-05	1.129e-05	6.236e-05	0.0006	2.82e-05	2.549e-05	0.0005	0.0004	0	0	0	2.798e-05	0	0.0004	0	0	0.0006	3.282e-05	3.281e-05	0	6.711e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	1.0	0.00964	T	0.707	0.05582	T	.	.	.	.	.	.	0.184967	0.17001	N	0.578813	1	0.08975	N	0.475	0.13142	N	0.31	0.58613	T	0.58	0.02598	N	0.063	0.11340	-1.0636	0.10878	T	0.076	0.30460	T	10	0.053962052	0.05672	T	0.014733	0.35036	T	0.109	0.30843	0.787	0.90993	0.154104182512	0.14974	0.2512968665140304	0.25043	.	.	0.252080976963	0.03990	T	0.014391	0.12263	T	-0.526815	0.00401	T	-0.612542	0.11779	T	0.0428740139065331	0.04214	T	0.628437	0.24364	T	0.030174067	0.02636	0.04663838	0.06545	0.027145276	0.01866	0.041078303	0.04586	-4.658	0.32892	T	.	.	0.065	0.02118	B	.;.	.;.	1.044516	0.14254	10.83	0.77108824030935308	0.11740	0.08979	0.14824	N	AEFDBI	0.076769	0.15450	N	-0.763099528944849	0.14280	0.7100383	-0.683274590181985	0.17378	0.9238115	1.39321978693664E-5	0.02871	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.58	1.16	0.19936	0.303000	0.18965	-0.197000	0.10982	0.676000	0.76740	0.024000	0.20007	0.000000	0.08366	0.916000	0.45140	0.257:0.2445:0.3203:0.1783	0.627	0.00737	677	0.60274	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D 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	.	.	.	.	.	.	.	.	0.1429	2738.23	35	chr11	17629295	.	G	A	2738.23	.	AC=2;AF=0.143;AN=14;DP=270;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.12;SOR=1.691	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2759,264,0	6	1	0	0
chr11	20044210	20044210	G	T	exonic	NAV2	.	nonsynonymous SNV	NAV2:NM_001111019:exon4:c.G395T:p.G132V,NAV2:NM_145117:exon13:c.G3137T:p.G1046V,NAV2:NM_182964:exon13:c.G3137T:p.G1046V,NAV2:NM_001111018:exon14:c.G2945T:p.G982V,NAV2:NM_001244963:exon14:c.G3206T:p.G1069V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0214700162384	.	.	3.301e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs544826202	1.163e-05	1.163e-05	6.806e-06	1.65e-05	0.0002	7.08e-06	5.79e-06	0.0001	8.645e-05	0	0	0	0	0	0	0	3.312e-05	0.0002	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.005	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000012	0.62929	D	0.000000	1	0.81001	D	2.11	0.58565	M	1.48	0.31731	T	-5.55	0.93175	D	0.943	0.95021	-0.9400	0.42616	T	0.177	0.52178	T	9	0.6923436	0.71933	D	0.02147	0.44242	T	0.486	0.77464	0.357	0.35897	0.417183330711	0.41332	0.5040079494122701	0.50322	0.747551704115	0.63598	0.775880396366	0.78307	T	0.175343	0.88611	T	0.0580025	0.59361	T	0.145864	0.79921	D	0.835188627243042	0.48939	D	0.989401	0.99924	D	0.83616316	0.86334	0.8069646	0.88707	0.83616316	0.86336	0.8069646	0.88708	-14.195	0.93673	D	.	.	0.884	0.81691	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.553166	0.71681	25.7	0.99835003312496085	0.91628	0.99446	0.96131	D	AEFBI	0.945087	0.95297	D	0.812337696598495	0.86871	9.026805	0.820787270300151	0.91201	10.76788	0.999999999999936	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	9.757000	0.98114	11.807000	0.96822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.451	0.94861	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	.	.	.	.	.	.	.	.	0.07143	1539.49	33	chr11	20044210	.	G	T	1539.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.094;DP=281;ExcessHet=0;FS=2.611;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.114;SOR=0.468	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1550,0,1283	6	0	1	0
chr11	35229168	35229168	T	C	exonic	CD44	.	nonsynonymous SNV	CD44:NM_001001392:exon4:c.T301C:p.W101R	.	423	1093	4	2	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.0109824	0.0051	0.0003	0.0002	0	0	0	0.0055	0.0368	0.0044825	693	154602	rs376706979	0.0022	0.0022	0.0012	0.0032	0.0357	0.0021	0.0021	0.0347	0.0342	0.0002	0.0001	3.826e-05	0	0	0.0003	4.497e-06	0.0019	0.0357	0.0012	0.0012	0.0008	0.0017	0.0367	0.0011	0.0010	0.0323	0.0306	0.0001	0	0.0001	0	0	0	0	2.94e-05	0.0005	0.0367	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.51	0.55439	T	0.62	0.02442	N	0.292	0.33030	-1.0436	0.16236	T	0.105	0.38440	T	8	0.0019601583	0.00027	T	.	.	.	0.047	0.12962	0.523	0.62668	0.134241683229	0.13084	.	.	.	.	.	.	.	.	.	.	-0.324571	0.06531	T	-0.211138	0.53585	T	0.0245918739499235	0.01220	T	0.176482	0.01711	T	.	.	.	.	.	.	.	.	-1.943	0.02973	T	.	.	0.615	0.69489	P	.	.	0.461687	0.08312	5.062	0.85598953652733556	0.15993	0.63222	0.32022	D	AEFBCI	0.083500	0.16916	N	-0.563299028688092	0.20069	1.055225	-0.469157911646324	0.23008	1.252589	0.999629252802391	0.41093	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.03	1.06	0.19341	0.617000	0.24053	-1.857000	0.04601	-0.120000	0.14102	1.000000	0.71638	0.000000	0.08366	0.944000	0.48669	0.1554:0.2921:0.0:0.5525	4.820	0.12749	820	0.40914	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	784.63	27	chr11	35229168	.	T	C	784.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.355;DP=197;ExcessHet=0;FS=2.868;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.06;ReadPosRankSum=-2.077;SOR=1.41	GT:AD:DP:GQ:PL	0/1:16,30:46:99:795,0,420	6	0	1	0
chr11	36574877	36574877	C	T	exonic	RAG1	.	nonsynonymous SNV	RAG1:NM_000448:exon2:c.C1573T:p.P525S,RAG1:NM_001377280:exon2:c.C1573T:p.P525S,RAG1:NM_001377279:exon3:c.C1573T:p.P525S,RAG1:NM_001377278:exon4:c.C1573T:p.P525S,RAG1:NM_001377277:exon5:c.C1573T:p.P525S	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity;Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	0	1516	4	2	0	8	0.00263158	.	.	.	712815	Recombinase_activating_gene_1_deficiency|Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive|Combined_immunodeficiency_with_skin_granulomas|not_provided	MONDO:MONDO:0000572,MedGen:CN375631|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650,Orphanet:157949|MedGen:C3661900	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.553	.	.	0.00399361	0.0027	0	0	0.0021	0	1.499e-05	0.0033	0.0187	0.0023803	368	154602	rs4151032	0.0012	0.0012	0.0007	0.0017	0.0174	0.0011	0.0011	0.0166	0.0163	2.987e-05	8.944e-05	0	0.0030	0	0.0007	1.169e-05	0.0012	0.0174	0.0007	0.0007	0.0004	0.0010	0.0151	0.0006	0.0006	0.0123	0.0113	4.809e-05	0	6.532e-05	0	0.0052	0	0	2.94e-05	0.0014	0.0151	0.001	0.78490	D	0.021	0.58089	D	0.999	0.77913	D	0.997	0.86255	D	0.000239	0.47286	D	0.185258	0.999591	0.47742	D	2.685	0.78553	M	-2.27	0.87433	D	-2.57	0.55501	D	0.387	0.42834	0.588	0.91745	D	0.725	0.90579	D	10	0.012039036	0.00260	T	.	.	.	0.553	0.81544	.	.	0.961614117143	0.96120	0.5594229088264151	0.55869	0.748255062631	0.63626	0.408331096172	0.26226	T	0.793851	0.94672	D	-0.203621	0.20283	T	-0.0509838	0.66955	D	0.0645179933070026	0.07860	T	0.947205	0.79675	D	0.34595656	0.56750	0.44811073	0.67867	0.34595656	0.56750	0.44811073	0.67867	-3.073	0.10988	T	0.3910648655729011	0.48424	0.153	0.33868	B	.	.	4.083378	0.60759	24.3	0.99874962298255687	0.95244	0.89968	0.50788	D	AEFBI	0.273089	0.38857	N	0.758486132562788	0.83457	8.022358	0.709641884012384	0.83111	7.936731	0.999997679012887	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.58	4.63	0.57175	4.078000	0.57327	4.032000	0.41347	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.974000	0.55675	0.136:0.864:0.0:0.0	15.879	0.78971	484	0.77165	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	2272.44	42	chr11	36574877	.	C	T	2272.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.029;DP=516;ExcessHet=0;FS=5.327;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.323;SOR=0.91	GT:AD:DP:GQ:PL	0/1:90,87:177:99:2283,0,2353	6	0	1	0
chr11	43436173	43436173	A	G	exonic	TTC17	.	nonsynonymous SNV	TTC17:NM_001376528:exon12:c.A1592G:p.H531R,TTC17:NM_001307943:exon17:c.A2261G:p.H754R,TTC17:NM_001376525:exon17:c.A2261G:p.H754R	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0144163855573	.	0.000798722	0.0003	0	0	0	0	0	0	0.0035	7.12e-05	11	154602	rs540505264	9.219e-05	0.0001	6.105e-05	0.0001	0.0018	7.812e-05	7.321e-05	0.0015	0.0014	0	0.0001	0	0	0	0.0010	1.087e-05	0.0001	0.0018	5.909e-05	5.906e-05	3.856e-05	8.054e-05	0.0017	3.075e-05	2.209e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.47e-05	0	0.0017	0.83	0.02884	T	0.645	0.06859	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.57	0.29342	T	-0.27	0.11366	N	0.318	0.35832	-1.0816	0.07041	T	0.049	0.21065	T	8	0.008453369	0.00192	T	0.014416	0.34525	T	0.038	0.09825	0.32	0.29902	0.373217324921	0.36936	.	.	.	.	.	.	.	.	.	.	-0.440116	0.01291	T	-0.418203	0.31281	T	0.0965327955720797	0.11971	T	0.662834	0.27173	T	.	.	.	.	.	.	.	.	-2.967	0.09830	T	.	.	0.069	0.02960	B	.	.	3.279509	0.44925	22.0	0.94619580211995091	0.25197	0.94238	0.60535	D	AEFBI	0.481248	0.52262	N	-0.109816194374459	0.36965	2.143897	0.0700186371695549	0.43050	2.614832	0.53268158561005	0.21188	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	4.065000	0.57229	8.091000	0.76520	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.922	0.63442	351	0.85421	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1143.27	40	chr11	43436173	.	A	G	1143.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.981;DP=266;ExcessHet=0;FS=1.861;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-1.994;SOR=0.983	GT:AD:DP:GQ:PL	0/1:36,48:84:99:1153,0,851	5	0	1	1
chr11	44067769	44067769	C	T	exonic	ACCS	.	nonsynonymous SNV	ACCS:NM_001127219:exon2:c.C142T:p.R48C,ACCS:NM_032592:exon2:c.C142T:p.R48C	.	419	1100	2	1	0	4	0.00181488	.	.	.	2350854	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.108	0.00918871780325	7.7e-05	.	0.0001	9.612e-05	8.642e-05	0	0	5.994e-05	0	0.0004	9.06e-05	14	154602	rs150220771	9.098e-05	9.166e-05	6.942e-05	0.0001	0.0007	7.823e-05	7.305e-05	0.0006	0.0005	2.987e-05	0	0	2.519e-05	0	0	5.665e-05	8.279e-05	0.0007	7.224e-05	7.218e-05	2.57e-05	0.0001	0.0012	3.969e-05	3.126e-05	0.0005	0.0004	7.22e-05	0	0	0	0	0	0	2.941e-05	0	0.0012	0.179	0.22660	T	0.184	0.29740	T	0.0	0.02946	B	0.0	0.01387	B	0.276894	0.03808	N	1.423220	1	0.08975	N	0.345	0.11182	N	0.94	0.59983	T	-1.02	0.40082	N	0.091	0.06990	-1.0374	0.18109	T	0.073	0.29515	T	10	0.026726931	0.00833	T	0.009189	0.24154	T	0.108	0.30607	.	.	0.128392430309	0.12331	0.14268493803846982	0.14191	0.123530589542	0.13904	0.213493555784	0.00968	T	0.009466	0.34344	T	-0.372781	0.03456	T	-0.409088	0.32330	T	0.0201622111098684	0.00716	T	0.638636	0.25202	T	0.045533475	0.07468	0.032524955	0.02001	0.045533475	0.07468	0.032524955	0.02001	-4.604	0.32222	T	.	.	0.073	0.05060	B	.;.;.	.;.;.	1.640141	0.20931	14.98	0.74503584100931997	0.10720	0.00575	0.02600	N	AEFDBCI	0.032389	0.03648	N	-1.21947310788465	0.04718	0.2135322	-1.14530116441012	0.06853	0.3312779	0.999962120717287	0.48965	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.655142	0.61905	0	.	.	5.57	1.98	0.25351	0.240000	0.17822	0.083000	0.14415	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.072000	0.16771	0.141:0.1774:0.0:0.6816	4.837	0.12831	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1455.49	39	chr11	44067769	.	C	T	1455.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.81;DP=461;ExcessHet=0;FS=6.249;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.095;SOR=0.743	GT:AD:DP:GQ:PL	0/1:84,60:144:99:1466,0,2018	6	0	1	0
chr11	47248826	47248826	C	T	exonic	NR1H3	.	nonsynonymous SNV	NR1H3:NM_001251934:exon2:c.C23T:p.P8L,NR1H3:NM_001251935:exon2:c.C23T:p.P8L	.	1	1510	9	2	0	13	0.00428619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0066	0	0.0017	0.0011	0	0	0.0111	0.0156	0.0013519	209	154602	rs535532913	0.0008	0.0009	0.0005	0.0012	0.0142	0.0008	0.0008	0.0135	0.0132	3.113e-05	0	0	0	0	0.0005	4.618e-06	0.0008	0.0142	0.0005	0.0005	0.0002	0.0007	0.0141	0.0004	0.0004	0.0114	0.0104	7.216e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0141	.	.	.	0.345	0.17750	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999673	0.20721	N	.	.	.	.	.	.	.	.	.	0.152	0.15609	.	.	.	.	.	.	.	0.00372836	0.00069	T	.	.	.	.	.	.	.	0.165150595986	0.16160	0.0896108616886048	0.08894	.	.	.	.	.	0.058304	0.30805	T	-0.457958	0.01012	T	-0.418278	0.31273	T	.	.	.	0.538146	0.18126	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07937	B	.	.	1.414794	0.18307	13.66	0.74885094453248513	0.10864	0.01467	0.04897	N	ALL	.	.	.	.	.	.	.	.	.	1.0	0.98316	0.046548	0.00263	1	0.073863	0.01883	0	0.024116	0.00154	2	0.054758	0.00131	0	0.172439	0.29025	5.69	1.66	0.23081	0.531000	0.22759	-0.018000	0.12964	-0.190000	0.09434	0.025000	0.20085	0.000000	0.08366	0.013000	0.09966	0.0:0.6331:0.1376:0.2293	5.937	0.18408	23	0.98420	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	1595.63	25	chr11	47248826	.	C	T	1595.63	.	AC=2;AF=0.143;AN=14;DP=203;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.56;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1616,147,0	6	1	0	0
chr11	58267476	58267476	G	A	exonic	OR10W1	.	nonsynonymous SNV	OR10W1:NM_207374:exon1:c.C383T:p.T128I	.	427	1079	13	3	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0002	0.0183706	0.0107	0.0002	0.0008	0.0004	0	3.025e-05	0.0101	0.0769	0.0091719	1418	154602	rs200833145	0.0047	0.0047	0.0024	0.0069	0.0751	0.0046	0.0045	0.0736	0.0729	0.0002	6.712e-05	0	5.045e-05	0	0.0035	2.608e-05	0.0046	0.0751	0.0026	0.0026	0.0013	0.0039	0.0766	0.0023	0.0023	0.0701	0.0676	0.0003	0	6.532e-05	0	0.0004	0	0	4.409e-05	0.0009	0.0766	0.005	0.63226	D	0.016	0.60972	D	0.981	0.59675	D	0.708	0.54437	P	0.002641	0.36208	N	0.125321	0.917861	0.27362	N	2.945	0.84822	M	6.78	0.00490	T	-4.25	0.76094	D	0.297	0.33578	-1.0559	0.12803	T	0.004	0.01400	T	10	0.002395302	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.49150466261061965	0.49071	0.174593514633	0.19662	0.302266150713	0.10739	T	0.028591	0.20678	T	-0.501515	0.00561	T	-0.435641	0.29297	T	0.0913901125791992	0.11382	T	0.732227	0.34774	T	0.5716251	0.71150	0.54522276	0.73712	0.5716251	0.71151	0.54522276	0.73713	-8.308	0.63149	D	.	.	0.296	0.52696	B	.	.	3.101195	0.41791	21.4	0.99827754227103138	0.91026	0.90528	0.51778	D	AEFGI	0.273053	0.38855	N	0.286629345381957	0.55468	3.711056	0.159904920510697	0.47669	2.993664	1.71151944038902E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	3.81	0.43020	1.637000	0.36769	3.840000	0.40037	0.676000	0.76740	0.556000	0.27393	1.000000	0.68203	0.533000	0.29776	0.0:0.1371:0.5803:0.2827	9.591	0.38708	285	0.88719	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	0.000000	0.008772	0.000000	0.000000	0.000000	0.037879	0.1429	6230.22	38	chr11	58267476	.	G	A	6230.22	.	AC=2;AF=0.143;AN=14;DP=387;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=33.86;SOR=0.831	GT:AD:DP:GQ:PL	1/1:0,184:184:99:6251,553,0	6	1	0	0
chr11	62243466	62243466	C	T	exonic	SCGB1D2	.	nonsynonymous SNV	SCGB1D2:NM_006551:exon2:c.C233T:p.A78V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00193828256287	7.7e-05	.	9.987e-05	0.0004	0	0	0	1.505e-05	0	0.0004	7.76e-05	12	154602	rs373290916	5.89e-05	5.883e-05	4.088e-05	7.71e-05	0.0005	4.882e-05	4.501e-05	0.0004	0.0003	5.98e-05	2.246e-05	7.676e-05	7.564e-05	0	0.0002	2.7e-05	4.972e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	0.0005	0	6.539e-05	0	0	0	0	2.941e-05	0	0.0008	0.135	0.26192	T	0.248	0.23845	T	0.958	0.54977	D	0.519	0.48163	P	0.000749	0.00678	N	5.157350	1	0.08975	N	.	.	.	2.54	0.13916	T	-1.87	0.43717	N	0.186	0.20262	-0.9944	0.31459	T	0.034	0.14639	T	9	0.05617869	0.06257	T	0.001938	0.03456	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.11097926569704446	0.11026	0.0440953873989	0.04750	0.227440267801	0.01783	T	0.006856	0.06286	T	-0.627144	0.00100	T	-0.784592	0.02318	T	0.270961374044418	0.23788	T	0.272073	0.04599	T	0.047547277	0.08144	0.05736996	0.10416	0.047547277	0.08144	0.05736996	0.10416	-3.415	0.15259	T	.	.	0.153	0.33755	B	.	.	-1.208185	0.00523	0.012	0.79080211779093357	0.12581	0.00213	0.01210	N	AEFBI	0.024109	0.01442	N	-1.40694135200558	0.02577	0.1139901	-1.67671431709181	0.01244	0.05604525	4.19226868395763E-4	0.06899	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.4	-4.8	0.02957	-5.619000	0.00131	.	.	-1.606000	0.00887	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6757:0.2082:0.0:0.1161	6.147	0.19505	510	0.75209	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2030.63	42	chr11	62243466	.	C	T	2030.63	.	AC=2;AF=0.143;AN=14;DP=232;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.77;SOR=1.376	GT:AD:DP:GQ:PL	1/1:0,66:66:99:2051,197,0	6	1	0	0
chr11	64600740	64600740	C	T	exonic	SLC22A12	.	nonsynonymous SNV	SLC22A12:NM_001276327:exon7:c.C1076T:p.T359M,SLC22A12:NM_001276326:exon9:c.C1298T:p.T433M,SLC22A12:NM_144585:exon9:c.C1400T:p.T467M,SLC22A12:NM_153378:exon9:c.C737T:p.T246M	Hypouricemia, renal, Autosomal recessive	1	1503	18	0	0	18	0.00595238	.	.	.	868233	Dalmatian_hypouricemia|SLC22A12-related_disorder|not_provided	MONDO:MONDO:0020728,MedGen:C0473219,OMIM:220150|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.367	0.256691727966	7.7e-05	0.00179712	0.0014	0.0001	0.0003	0.0008	0	0.0002	0.0046	0.0081	0.0011513	178	154602	rs200104135	0.0005	0.0005	0.0004	0.0007	0.0058	0.0005	0.0005	0.0054	0.0052	0	0.0003	3.828e-05	0.0004	6.77e-05	0.0030	0.0002	0.0009	0.0058	0.0004	0.0004	0.0002	0.0007	0.0072	0.0003	0.0003	0.0054	0.0047	0.0002	0	6.532e-05	0	0.0012	0	0	0.0001	0.0019	0.0072	0.002	0.72154	D	0.076	0.59732	T	1.0	0.90584	D	0.88	0.76457	P	0.037096	0.24443	N	0.418990	0.597691	0.32511	D	2.13	0.59329	M	0.08	0.61559	T	-4.68	0.81595	D	0.796	0.79214	-0.4788	0.69410	T	0.288	0.66007	T	10	0.025063962	0.00712	T	0.256692	0.89340	D	0.367	0.68670	.	.	0.860991568236	0.85964	0.5507798908634502	0.55003	0.889622572193	0.70165	0.606148600578	0.53772	T	0.679134	0.90559	D	-0.324341	0.06549	T	-0.234805	0.51305	T	0.0838727124354833	0.10475	T	0.855114	0.54241	D	0.36221606	0.58005	0.5789989	0.75602	0.34577358	0.56736	0.53745306	0.73270	-6.695	0.55452	T	.	.	0.183	0.40889	B	.;.;.;.;.	.;.;.;.;.	3.651207	0.51821	23.2	0.99522149308898489	0.69284	0.69129	0.34066	D	AEFDBI	0.198968	0.32579	N	-0.141444679669452	0.35599	2.046873	-0.259588472748083	0.29442	1.649562	0.0213184414377857	0.13338	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.58	2.62	0.30337	0.829000	0.27102	3.294000	0.37329	-0.279000	0.06446	0.347000	0.25734	0.998000	0.33993	0.194000	0.21720	0.0:0.4665:0.5335:0.0	12.752	0.56685	460	0.78750	.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.;.	.	.	.	.	.	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	0.003046	0.000000	0.000000	0.000000	0.000000	0.008621	0.009317	0.003817	0.1667	913.92	9	chr11	64600740	.	C	T	913.92	.	AC=2;AF=0.167;AN=12;DP=141;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.64;SOR=2.468	GT:AD:DP:GQ:PL	1/1:0,28:28:84:933,84,0	5	1	0	1
chr11	65018471	65018471	G	A	exonic	ARL2	.	nonsynonymous SNV	ARL2:NM_001199745:exon2:c.G173A:p.R58Q,ARL2:NM_001667:exon2:c.G173A:p.R58Q	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	7.7e-05	0.000399361	0.0016	0	0.0002	0.0002	0.0266	0.0007	0.0070	0.0004	0.0010026	155	154602	rs199961468	0.0006	0.0006	0.0006	0.0006	0.0002	0.0006	0.0006	0.0001	8.798e-05	0	0	0	2.53e-05	0.0154	0	5.32e-05	0.0005	0.0002	0.0016	0.0016	0.0007	0.0026	0.0008	0.0015	0.0014	0.0003	0.0002	0	0	0	0	0	0.0222	0	0.0002	0	0.0008	0.74	0.03696	T	0.235	0.24767	T	0.004	0.12183	B	0.004	0.10090	B	0.017606	0.27680	U	0.321368	0.998606	0.45151	D	-0.04	0.05001	N	-1.58	0.81987	D	-0.81	0.36189	N	0.207	0.26596	-0.5359	0.67319	T	0.284	0.65547	T	10	0.007957667	0.00181	T	.	.	.	0.183	0.45592	.	.	0.77767829113	0.77562	0.6010256170711031	0.60033	0.320807667814	0.34285	0.665666341782	0.62219	T	0.029591	0.21170	T	-0.230794	0.16545	T	-0.224358	0.52315	T	0.0476583276111275	0.05083	T	0.919408	0.70989	D	0.23328277	0.46130	0.0845081	0.19445	0.23328277	0.46130	0.0845081	0.19445	-3.241	0.12988	T	.	.	0.098	0.17700	B	.;.;.	.;.;.	4.649716	0.74108	26.1	0.93429510970475727	0.23200	0.92835	0.56662	D	AEFBI	0.625653	0.60877	D	-0.0901197418264354	0.37824	2.206257	0.102728871146267	0.44687	2.745708	0.999977378198308	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.79	4.79	0.60909	4.095000	0.57456	11.673000	0.94126	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	15.348	0.74073	333	0.86326	Small GTP-binding protein domain;Small GTP-binding protein 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	.	.	.	.	.	.	.	.	0.1429	2166.42	34	chr11	65018471	.	G	A	2166.42	.	AC=2;AF=0.143;AN=14;DP=249;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.09;SOR=0.869	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2187,216,0	6	1	0	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, 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	.	.	.	.	.	.	.	.	0.3571	563.75	59	chr11	66863811	.	C	T	563.75	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.271;DP=485;ExcessHet=4.7409;FS=172.665;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.36;ReadPosRankSum=1.02;SOR=9.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,46:117:99:.:.:205,0,964:.	2	0	5	0
chr11	68262622	68262639	TGGAGGCCGCAGTCGTAA	-	exonic	C11orf24	.	nonframeshift deletion	C11orf24:NM_022338:exon4:c.356_373del:p.I119_S124del	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	9.713e-05	0.0003	0	0	9.065e-05	0.0011	0.0053	0.0006468	100	154602	rs748557353	0.0004	0.0004	0.0002	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	5.975e-05	2.237e-05	0	2.519e-05	1.874e-05	0.0012	4.587e-05	0.0005	0.0058	0.0001	0.0001	5.146e-05	0.0002	0.0039	9.155e-05	7.709e-05	0.0026	0.0021	0	0	6.541e-05	0	0	0	0	1.471e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3675.2	43	chr11	68262621	.	CTGGAGGCCGCAGTCGTAA	C	3675.2	.	AC=2;AF=0.143;AN=14;DP=386;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.7;SOR=0.818	GT:AD:DP:GQ:PL	1/1:0,83:83:99:3696,253,0	6	1	0	0
chr11	73308982	73308982	C	T	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C344T:p.A115V	.	429	1017	70	6	0	82	0.0387524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.0103834	0.0702	0	0	0	.	0.0718	0	0.0779	0.0042173	652	154602	rs138821110	0.0071	0.0070	0.0064	0.0079	0.0391	0.0070	0.0070	0.0345	0.0327	0.0020	0.0062	0.0385	0	0.0025	0.0391	0.0054	0.0103	0.0303	0.0061	0.0061	0.0058	0.0063	0.0203	0.0057	0.0056	0.0171	0.0158	0.0017	0	0.0085	0.0343	0.0002	0.0012	0.0274	0.0067	0.0147	0.0203	0.133	0.26409	T	0.161	0.31326	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.958337	0.26228	N	0.805	0.20218	L	0.4	0.57261	T	-0.48	0.15379	N	0.086	0.06322	-1.0278	0.21168	T	0.060	0.25127	T	9	0.0018773079	0.00025	T	.	.	.	0.037	0.09474	.	.	.	.	0.2112261720823509	0.21038	0.420411585227	0.42572	0.87365937233	0.93088	D	0.012857	0.11224	T	-0.502128	0.00556	T	-0.469674	0.25551	T	0.0463361906583269	0.04844	T	0.437256	0.12012	T	0.031170215	0.02909	0.12089603	0.29172	0.031170215	0.02908	0.12089603	0.29171	-5.419	0.41102	T	.	.	0.104	0.18746	B	.	.	2.367257	0.30367	18.42	0.99659934032971631	0.77883	0.16498	0.19417	N	ALL	0.072673	0.14512	N	-0.928686673885686	0.10175	0.4849995	-0.822539757875643	0.13949	0.7263908	0.999999999997495	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	3.76	2.84	0.32241	0.288000	0.18695	1.582000	0.27480	-1.078000	0.01575	0.570000	0.27505	0.002000	0.18203	0.743000	0.35541	0.0:0.8855:0.0:0.1145	8.444	0.31992	618	0.66225	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.040984	0.011628	0.026471	0.049689	0.222222	0.065217	0.050000	0.040650	0.07143	592.63	11	chr11	73308982	.	C	T	592.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.552;DP=137;ExcessHet=0;FS=3.412;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=2.51;SOR=0.244	GT:AD:DP:GQ:PL	0/1:11,22:33:99:603,0,276	6	0	1	0
chr11	74204372	74204372	G	A	exonic	PPME1	.	nonsynonymous SNV	PPME1:NM_001271593:exon3:c.G215A:p.S72N,PPME1:NM_016147:exon3:c.G215A:p.S72N	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00138245968726	8.4e-05	0.000199681	0.0003	0.0001	0	0	0	3.146e-05	0.0023	0.0017	0.000207	32	154602	rs369439716	0.0001	0.0001	6.948e-05	0.0002	0.0017	0.0001	0.0001	0.0013	0.0012	2.988e-05	0	3.829e-05	0	0	0.0017	2.52e-05	0.0002	0.0015	0.0001	0.0001	8.993e-05	0.0002	0.0027	9.141e-05	7.698e-05	0.0016	0.0013	4.81e-05	0	0	0	0	0	0	8.819e-05	0	0.0027	0.261	0.16520	T	0.338	0.18125	T	0.103	0.25884	B	0.029	0.21540	B	0.228946	0.15964	N	0.677027	0.999999	0.58761	D	1.67	0.42885	L	.	.	.	-0.93	0.24898	N	0.649	0.66016	-0.7024	0.60323	T	0.008	0.02679	T	10	0.030573457	0.01185	T	0.001382	0.02011	T	0.112	0.31546	.	.	0.268702046668	0.26493	0.7938988974166172	0.79342	0.420246171216	0.42557	0.809952616692	0.83485	D	0.167582	0.51426	T	-0.2954	0.09100	T	-0.221726	0.52570	T	0.046417266819622	0.04859	T	0.875013	0.59164	D	0.2955647	0.52504	0.139747	0.33333	0.2955647	0.52504	0.139747	0.33332	-7.268	0.55967	T	.	.	0.298	0.52857	B	.;.	.;.	3.991644	0.58755	24.0	0.99347124342184123	0.60412	0.96047	0.67293	D	AEFBCI	0.891964	0.82843	D	0.218062929254962	0.52074	3.384047	0.413064462264707	0.62376	4.452192	0.999999999997148	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.93	5.93	0.95888	9.092000	0.93505	11.670000	0.94091	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.125	0.93365	694	0.58444	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.1429	1427.44	35	chr11	74204372	.	G	A	1427.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.02;DP=254;ExcessHet=0.3476;FS=2.424;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.894;SOR=0.996	GT:AD:DP:GQ:PL	0/1:35,39:74:99:1019,0,787	5	0	2	0
chr11	77211191	77211191	C	T	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon45:c.C6091T:p.R2031W,MYO7A:NM_001127180:exon45:c.C5977T:p.R1993W,MYO7A:NM_001369365:exon46:c.C5944T:p.R1982W	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1030559	not_provided|Usher_syndrome_type_1B	MedGen:C3661900|MONDO:MONDO:0700087,MedGen:C2931206	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.614	0.197045080083	0.0002	.	0.0002	0.0008	0.0005	0	0	0.0001	0	0	3.88e-05	6	154602	rs369460086	7.15e-05	7.319e-05	6.746e-05	7.56e-05	0.0003	6e-05	5.604e-05	0.0002	0.0001	0.0003	2.389e-05	0	0	0	0	7.35e-05	0.0001	4.871e-05	6.569e-05	6.562e-05	7.71e-05	5.375e-05	0.0002	3.515e-05	2.615e-05	6.272e-05	4.293e-05	0.0001	0	0	0	0	0	0	4.412e-05	0	0.0002	0.005	0.78490	D	0.016	0.76473	D	0.999	0.77913	D	0.968	0.71741	D	0.000002	0.62929	D	0.056853	0.999988	0.54805	D	2.585	0.75554	M	-1.17	0.78199	T	-6.28	0.90688	D	0.803	0.82458	0.167	0.85342	D	0.562	0.84087	D	10	0.532118	0.63242	D	0.197045	0.86515	D	0.614	0.84932	.	.	0.894152575574	0.89310	0.672587858029338	0.67196	0.419543863696	0.42505	0.806033372879	0.82883	D	0.857044	0.96796	D	0.255263	0.79090	D	0.128891	0.78818	D	0.635365068912506	0.37842	D	0.981202	0.93547	D	0.81191856	0.84680	0.61340356	0.77503	0.81191856	0.84682	0.61340356	0.77504	-11.063	0.80002	D	0.2933571408957497	0.39013	0.200	0.42419	B	.;.;.;.	.;.;.;.	4.847916	0.79215	27.1	0.99919194904581154	0.98654	0.30301	0.24047	N	AEFI	0.652921	0.62614	D	0.265148182110584	0.54392	3.604895	0.153687213643592	0.47338	2.965507	0.368414973381623	0.19846	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.63	3.71	0.41733	0.526000	0.22680	1.818000	0.29017	0.599000	0.40250	0.096000	0.22710	0.929000	0.28499	0.998000	0.85391	0.3073:0.6926:0.0:0.0	12.243	0.53872	679	0.60090	FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;.;.;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1271.44	36	chr11	77211191	.	C	T	1271.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.34;DP=303;ExcessHet=0;FS=2.378;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=1.11;SOR=0.941	GT:AD:DP:GQ:PL	0/1:61,55:116:99:1282,0,1334	6	0	1	0
chr11	102162521	102162521	C	A	exonic	YAP1	.	nonsynonymous SNV	YAP1:NM_001130145:exon3:c.C638A:p.T213K,YAP1:NM_001195044:exon3:c.C638A:p.T213K,YAP1:NM_001195045:exon3:c.C104A:p.T35K,YAP1:NM_001282097:exon3:c.C638A:p.T213K,YAP1:NM_001282098:exon3:c.C638A:p.T213K,YAP1:NM_001282099:exon3:c.C638A:p.T213K,YAP1:NM_001282100:exon3:c.C638A:p.T213K,YAP1:NM_001282101:exon3:c.C638A:p.T213K,YAP1:NM_006106:exon3:c.C638A:p.T213K	Coloboma, ocular, Autosomal dominant;Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2233931	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.00760506450727	.	0.000199681	1.648e-05	0.0002	0	0	0	0	0	0	1.94e-05	3	154602	rs200650003	1.231e-05	1.231e-05	6.806e-06	1.788e-05	0.0004	7.7e-06	6.35e-06	0.0003	0.0002	0.0004	4.472e-05	0	0	0	0	0	3.311e-05	0	4.595e-05	4.593e-05	2.569e-05	6.712e-05	0.0002	2.107e-05	1.526e-05	7.87e-05	5.574e-05	0.0002	0	0	0	0	0	0	0	0	0	0.511	0.09572	T	0.434	0.13673	T	0.411	0.37079	B	0.11	0.37679	B	0.001513	0.38793	N	0.290148	0.812256	0.30350	N	0.99	0.25021	L	0.89	0.46028	T	-1.32	0.39503	N	0.497	0.57946	-1.0175	0.24528	T	0.079	0.31314	T	10	0.09032649	0.15726	T	0.007605	0.20166	T	0.130	0.35528	.	.	0.110392049598	0.10638	0.40752520381612994	0.40668	0.525322443723	0.50200	0.543293893337	0.44911	T	0.225538	0.59030	T	-0.371696	0.03509	T	-0.4755	0.24926	T	0.0826900050084876	0.10328	T	0.922308	0.72678	D	0.08258636	0.19031	0.12517367	0.30162	0.08258636	0.19030	0.12517367	0.30162	-4.605	0.57589	T	0.21669167706955653	0.29153	0.451	0.68846	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.970278	0.39582	21.0	0.92021988544798061	0.21360	0.94841	0.62515	D	AEFDGBI	0.802518	0.72792	D	-0.173984877108781	0.34220	1.950631	-0.0222789705838811	0.38710	2.284618	0.999999999965853	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	6.339000	0.72918	3.984000	0.40930	0.599000	0.40250	0.994000	0.38300	0.406000	0.24735	0.642000	0.32476	0.0:1.0:0.0:0.0	19.587	0.95487	716	0.55970	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1849.63	33	chr11	102162521	.	C	A	1849.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.584;DP=348;ExcessHet=0;FS=0.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-1.36;SOR=0.607	GT:AD:DP:GQ:PL	0/1:84,78:162:99:1860,0,1934	6	0	1	0
chr11	102362928	102362928	A	G	exonic	BIRC2	.	nonsynonymous SNV	BIRC2:NM_001166:exon4:c.A1028G:p.E343G,BIRC2:NM_001256163:exon4:c.A1028G:p.E343G,BIRC2:NM_001256166:exon4:c.A881G:p.E294G	.	.	.	.	.	.	.	.	.	.	.	2241207	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.00595390804845	.	0.000199681	1.728e-05	0.0002	0	0	0	0	0	0	1.94e-05	3	154602	rs201120793	1.232e-05	1.231e-05	6.812e-06	1.789e-05	0.0004	7.7e-06	6.35e-06	0.0003	0.0002	0.0004	4.474e-05	0	0	0	0	0	3.315e-05	0	4.596e-05	4.593e-05	2.57e-05	6.713e-05	0.0002	2.108e-05	1.526e-05	7.869e-05	5.573e-05	0.0002	0	0	0	0	0	0	0	0	0	0.032	0.72154	D	0.005	0.76473	D	0.008	0.14655	B	0.003	0.08700	B	0.002182	0.37053	N	0.343759	0.998288	0.48481	D	1.205	0.30389	L	3.69	0.12371	T	-4.87	0.81269	D	0.219	0.24510	-1.1125	0.02864	T	0.045	0.19437	T	10	0.12517071	0.23783	T	0.005954	0.15520	T	0.136	0.36778	.	.	0.558227216974	0.55483	0.44195471791922536	0.44112	0.187294551966	0.21046	0.410552859306	0.26534	T	0.105645	0.75745	T	-0.381817	0.03035	T	-0.490038	0.23388	T	0.0985247708953936	0.12194	T	0.751525	0.37371	T	0.48975477	0.66488	0.29314896	0.55343	0.48975477	0.66489	0.29314896	0.55343	-4.774	0.34743	T	.	.	0.073	0.08176	B	.;.;.;.;.;.	.;.;.;.;.;.	3.070603	0.41274	21.3	0.98805030082331102	0.46525	0.83453	0.42569	D	AEFGBI	0.112560	0.22243	N	-0.391538388422518	0.25769	1.401362	-0.349149306409963	0.26535	1.466315	0.982124388674888	0.30356	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.31	2.91	0.32903	2.764000	0.47295	4.184000	0.42357	-0.208000	0.08445	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.8246:0.0:0.1754:0.0	8.428	0.31901	862	0.33134	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	790.45	34	chr11	102362928	.	A	G	790.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.721;DP=250;ExcessHet=0;FS=1.872;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.86;SOR=0.944	GT:AD:DP:GQ:PL	0/1:41,35:76:99:801,0,922	6	0	1	0
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P,MSANTD4:NM_001318748:exon2:c.G259C:p.A87P,MSANTD4:NM_001318749:exon2:c.G259C:p.A87P,MSANTD4:NM_001318750:exon2:c.G259C:p.A87P,MSANTD4:NM_032424:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	6014.11	64	chr11	106010659	.	C	G	6014.11	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-5.649;DP=935;ExcessHet=3.1439;FS=266.032;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=3.18;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,58:196:99:0|1:106010659_C_G:1404,0,5488:106010659	2	0	2	3
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6438.8	64	chr11	106010660	.	C	G	6438.8	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-2.366;DP=932;ExcessHet=3.1439;FS=287.19;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=3.22;SOR=9.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,58:184:99:.:.:1423,0,5410:.	0	0	4	3
chr11	106010663	106010663	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255A:p.M85I,MSANTD4:NM_001318748:exon2:c.G255A:p.M85I,MSANTD4:NM_001318749:exon2:c.G255A:p.M85I,MSANTD4:NM_001318750:exon2:c.G255A:p.M85I,MSANTD4:NM_032424:exon2:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00279040284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.902327	0.36202	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9843	0.33998	T	0.104	0.38218	T	9	0.1143381	0.21509	T	0.00279	0.05810	T	0.047	0.12962	0.294	0.25720	0.256793551483	0.25290	0.12417175146048018	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923724	0.37684	T	-0.370463	0.36834	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.089872	0.41597	21.4	0.98105666193469465	0.38310	0.97626	0.75993	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	4841.7	72	chr11	106010663	.	C	T	4841.7	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-4.068;DP=942;ExcessHet=3.1439;FS=240.854;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=3.4;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,58:192:99:0|1:106010659_C_G:1416,0,5342:106010659	1	0	3	3
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T,MSANTD4:NM_001318748:exon2:c.T254C:p.M85T,MSANTD4:NM_001318749:exon2:c.T254C:p.M85T,MSANTD4:NM_001318750:exon2:c.T254C:p.M85T,MSANTD4:NM_032424:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5505.39	72	chr11	106010664	.	A	G	5505.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-2.258;DP=944;ExcessHet=3.1439;FS=239.419;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=3.45;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,58:195:99:0|1:106010659_C_G:1407,0,5442:106010659	0	0	4	3
chr11	106010667	106010667	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G251A:p.R84K,MSANTD4:NM_001318748:exon2:c.G251A:p.R84K,MSANTD4:NM_001318749:exon2:c.G251A:p.R84K,MSANTD4:NM_001318750:exon2:c.G251A:p.R84K,MSANTD4:NM_032424:exon2:c.G251A:p.R84K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00259240547793	.	0.000199681	8.238e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs561321456	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.572e-06	1.313e-05	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.218	0.19090	T	0.747	0.04860	T	0.0	0.02946	B	0.002	0.06944	B	0.002354	0.36727	N	0.299972	0.844051	0.35114	D	0.69	0.16971	N	.	.	.	-0.07	0.08495	N	0.114	0.10198	-0.8777	0.49943	T	0.136	0.45241	T	9	0.07382545	0.11204	T	0.002592	0.05235	T	0.042	0.11227	0.367	0.37524	0.274366138417	0.27033	0.40402514392590105	0.40318	0.389484333747	0.40189	0.525025010109	0.42334	T	0.028825	0.20791	T	-0.16679	0.25721	T	-0.380505	0.35662	T	0.222574869783589	0.21591	T	0.680032	0.28847	T	0.098485895	0.23231	0.10551929	0.25367	0.098485895	0.23231	0.10551929	0.25367	-3.047	0.10696	T	.	.	0.080	0.07697	B	.;.;.	.;.;.	2.801802	0.36860	20.4	0.67663913896592942	0.08422	0.86253	0.45498	D	AEFGBI	0.191163	0.31837	N	-0.163816012127879	0.34649	1.980253	0.0201264286488667	0.40651	2.429427	0.997302788968075	0.35478	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	4.01	0.45821	2.982000	0.49027	4.834000	0.45225	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8616:0.0:0.1384	12.064	0.52876	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	4766.7	66	chr11	106010667	.	C	T	4766.7	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-4.542;DP=966;ExcessHet=3.1439;FS=231.764;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.73;ReadPosRankSum=4.07;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,58:194:99:0|1:106010659_C_G:1411,0,5344:106010659	1	0	3	3
chr11	107439126	107439126	G	T	exonic	CWF19L2	.	nonsynonymous SNV	CWF19L2:NM_152434:exon6:c.C628A:p.P210T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	.	0.0066	0.00658946	0.0021	0.0226	0.0012	0	0	0	0.0024	6.894e-05	0.001824	282	154602	rs608634	0.0006	0.0006	0.0007	0.0005	0.0208	0.0005	0.0005	0.0196	0.0190	0.0208	0.0009	0	0	0	0.0005	6.316e-06	0.0014	0.0001	0.0052	0.0052	0.0053	0.0051	0.0180	0.0049	0.0048	0.0169	0.0165	0.0180	0	0.0025	0	0	0	0	0	0.0043	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999863	0.50061	D	2.965	0.85198	M	2.01	0.21291	T	-4.78	0.80510	D	0.628	0.64223	-0.8311	0.53231	T	0.104	0.38316	T	10	0.008489549	0.00192	T	.	.	.	0.399	0.71321	.	.	0.540835050783	0.53735	0.3401947053512284	0.33932	0.117737145212	0.13261	0.533866941929	0.43580	T	0.069748	0.33786	T	-0.31253	0.07527	T	-0.204785	0.54193	T	0.0607051904911149	0.07279	T	0.941006	0.77964	D	0.7571886	0.81288	0.6281088	0.78313	0.7571886	0.81289	0.6281088	0.78314	-9.898	0.73298	D	.	.	0.736	0.74447	P	.	.	4.624411	0.73463	26.0	0.99748428553001867	0.84077	0.98668	0.85355	D	AEFBI	0.804119	0.72907	D	0.937852763014062	0.93487	12.07199	0.894057597333644	0.95310	13.50061	0.997267986236029	0.35436	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.75	5.75	0.90390	7.628000	0.82379	11.286000	0.91899	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:0.0:1.0:0.0	18.945	0.92591	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	0.002016	0.000000	0.001359	0.002924	0.000000	0.017241	0.000000	0.000000	0.07143	413.64	29	chr11	107439126	.	G	T	413.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.504;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-0.68;SOR=0.693	GT:AD:DP:GQ:PL	0/1:21,21:42:99:424,0,443	6	0	1	0
chr11	107505101	107505101	G	A	exonic	ALKBH8	.	nonsynonymous SNV	ALKBH8:NM_001378133:exon11:c.C1402T:p.L468F,ALKBH8:NM_001301010:exon12:c.C1552T:p.L518F,ALKBH8:NM_138775:exon12:c.C1552T:p.L518F	.	.	.	.	.	.	.	.	.	.	.	2199074	ALKBH8-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.244	0.0247422075473	0.0007	0.000199681	0.0003	0.0033	0	0	0	0	0	0	7.12e-05	11	154602	rs193041881	9.077e-05	8.687e-05	0.0001	7.68e-05	0.0031	7.753e-05	7.281e-05	0.0026	0.0024	0.0031	0.0003	0	0	0	0.0005	9.268e-07	0.0002	8.835e-05	0.0007	0.0007	0.0008	0.0006	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0004	0	0	0	0	1.47e-05	0.0009	0	0.004	0.65419	D	0.007	0.69154	D	0.999	0.90584	D	0.949	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.45	0.92227	M	0.64	0.52867	T	-3.55	0.68764	D	0.531	0.60664	-0.4602	0.70061	T	0.328	0.69623	T	10	0.021187931	0.00502	T	0.024742	0.47726	T	0.244	0.55061	.	.	0.489728331402	0.48607	0.4954710785829484	0.49468	0.0631787556016	0.07030	0.465049266815	0.34002	T	0.313398	0.68515	T	-0.221115	0.17842	T	-0.0934434	0.63901	T	0.152366245995638	0.17290	T	0.851715	0.53598	D	0.51379305	0.67901	0.43899456	0.67266	0.51379305	0.67902	0.43899456	0.67266	-12.939	0.89110	D	.	.	0.393	0.59398	A	.;.;.	.;.;.	4.043366	0.59881	24.2	0.99898150791624973	0.97048	0.98617	0.84749	D	AEFBI	0.856346	0.77357	D	0.781010042867045	0.84903	8.419927	0.733028167663065	0.84886	8.418588	0.999999662065049	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	7.679000	0.83364	9.759000	0.81503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.0:0.0:1.0:0.0	18.128	0.89522	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1874.46	40	chr11	107505101	.	G	A	1874.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.793;DP=328;ExcessHet=0;FS=2.148;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.917;SOR=0.504	GT:AD:DP:GQ:PL	0/1:60,82:142:99:1885,0,1355	6	0	1	0
chr11	108723244	108723246	GAA	-	exonic	DDX10	.	nonframeshift deletion	DDX10:NM_004398:exon13:c.1747_1749del:p.E586del	.	.	.	.	.	.	.	.	.	.	.	3192108	DDX10-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0030	0.000798722	0.0003	0.0028	0.0002	0.0001	0	6.148e-05	0	0.0002	0.0002846	44	154602	rs563167397	0.0001	0.0001	0.0001	8.393e-05	0.0035	9.608e-05	9.087e-05	0.0030	0.0028	0.0035	0.0002	0	0	0	0.0005	4.498e-06	0.0004	6.963e-05	0.0010	0.0010	0.0011	0.0008	0.0034	0.0008	0.0008	0.0030	0.0028	0.0034	0	0.0001	0	0	0	0	2.941e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216760	0.568182	0.122419	0.105590	0.222222	0.145455	0.300676	0.170940	0.07143	1686.4	34	chr11	108723243	.	GGAA	G	1686.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.476;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.53;ReadPosRankSum=-0.596;SOR=0.656	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1697,0,1795	6	0	1	0
chr11	111534431	111534431	C	T	exonic	HOATZ	.	nonsynonymous SNV	HOATZ:NM_001100388:exon5:c.C419T:p.P140L,HOATZ:NM_207430:exon6:c.C500T:p.P167L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0053	0.00479233	0.0014	0.0157	0.0008	0.0002	0	7.505e-05	0	6.064e-05	0.0013519	209	154602	rs61753535	0.0005	0.0005	0.0006	0.0005	0.0187	0.0005	0.0005	0.0175	0.0170	0.0187	0.0008	0	2.522e-05	0	0.0014	2.975e-05	0.0011	8.134e-05	0.0046	0.0046	0.0048	0.0044	0.0155	0.0043	0.0042	0.0145	0.0141	0.0155	0	0.0022	0	0	0	0	7.352e-05	0.0066	0	0.008	0.59928	D	0.411	0.14500	T	0.319	0.32965	B	0.039	0.23607	B	0.020922	0.26936	N	0.343850	0.998701	0.45307	D	1.67	0.42885	L	.	.	.	-2.98	0.65972	D	0.102	0.11626	-1.0274	0.21299	T	0.052	0.22230	T	9	0.0036886334	0.00068	T	.	.	.	0.055	0.15663	.	.	0.132336055621	0.12781	0.012503479596133016	0.01209	0.710522721883	0.61686	.	.	.	0.059276	0.31070	T	-0.582491	0.00186	T	-0.593889	0.13331	T	0.030375863000089	0.02047	T	0.779622	0.41374	T	0.09022553	0.21106	0.093906626	0.22202	0.09022553	0.21106	0.093906626	0.22202	-4.408	0.29665	T	.	.	0.223	0.58487	B	.;.;.	.;.;.	1.870125	0.23756	16.14	0.88762795623412039	0.18236	0.08216	0.14173	N	AEFBI	0.061776	0.11833	N	-0.375901247250173	0.26330	1.436204	-0.374658510469129	0.25755	1.418304	0.993573924682345	0.33269	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.13	2.19	0.26890	-0.005000	0.12791	1.897000	0.29556	0.599000	0.40250	0.005000	0.17040	0.978000	0.30204	0.901000	0.43729	0.1709:0.5236:0.2102:0.0954	3.144	0.06077	132	0.94697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.010101	0.006793	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	1272.63	35	chr11	111534431	.	C	T	1272.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.04;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.864;SOR=0.72	GT:AD:DP:GQ:PL	0/1:46,56:102:99:1283,0,991	6	0	1	0
chr11	113933064	113933064	G	A	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon5:c.G634A:p.A212T,HTR3B:NM_006028:exon6:c.G667A:p.A223T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0432463927516	0.0009	0.000599042	0.0002	0.0028	0	0	0	1.501e-05	0	0	0.0002135	33	154602	rs145224778	0.0001	0.0001	0.0001	0.0001	0.0038	0.0001	0.0001	0.0033	0.0031	0.0038	4.473e-05	0	5.038e-05	0	0.0002	3.148e-05	0.0004	1.16e-05	0.0008	0.0009	0.0008	0.0008	0.0029	0.0007	0.0007	0.0025	0.0024	0.0029	0	0.0001	0	0	0	0	4.41e-05	0.0005	0	0.394	0.10838	T	0.607	0.07791	T	0.008	0.14655	B	0.005	0.11217	B	0.210996	0.16366	N	0.633406	0.999999	0.08975	N	0.6	0.15550	N	-1.21	0.78645	T	0.12	0.05604	N	0.047	0.01911	-0.9665	0.37914	T	0.188	0.53916	T	10	0.0064712465	0.00146	T	0.043246	0.60884	D	0.124	0.34239	.	.	0.191931220699	0.18833	0.3169799636681552	0.31610	0.0953457349355	0.10770	0.29579731822	0.09776	T	0.016483	0.13616	T	-0.442258	0.01254	T	-0.410785	0.32135	T	0.00870599646352842	0.00107	T	0.545645	0.18668	T	0.07682748	0.17401	0.081509314	0.18531	0.07682748	0.17401	0.081509314	0.18530	-4.326	0.28540	T	.	.	0.065	0.02399	B	.;.	.;.	0.480391	0.08498	5.260	0.73831711188673943	0.10471	0.01903	0.05831	N	AEFDGBI	0.054532	0.09924	N	-1.48378692525894	0.01964	0.08624894	-1.51073738597425	0.02261	0.1037237	0.913987386296044	0.26440	0.446893	0.09132	0	0.563428	0.19063	0	0.607795	0.38427	0	0.530356	0.10902	0	.	.	6.17	-5.04	0.02742	0.100000	0.15067	-0.454000	0.09081	-0.749000	0.03603	0.000000	0.06391	0.000000	0.08366	0.234000	0.22842	0.5507:0.0:0.3485:0.1007	8.533	0.32507	865	0.32612	Neurotransmitter-gated ion-channel 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	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1170.44	34	chr11	113933064	.	G	A	1170.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.84;DP=301;ExcessHet=0;FS=0.684;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=1.09;SOR=0.6	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1181,0,1613	6	0	1	0
chr11	113944725	113944725	G	A	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon7:c.G1027A:p.E343K,HTR3B:NM_006028:exon8:c.G1060A:p.E354K	.	.	.	.	.	.	.	.	.	.	.	712608	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.013	.	0.0071	0.0071885	0.0020	0.0223	0.0005	0	0	1.5e-05	0.0011	6.069e-05	0.0018758	290	154602	rs140529422	0.0007	0.0007	0.0007	0.0006	0.0246	0.0006	0.0006	0.0232	0.0227	0.0246	0.0008	0	0	0	0.0003	8.993e-06	0.0015	2.319e-05	0.0064	0.0065	0.0067	0.0062	0.0227	0.0061	0.0060	0.0215	0.0210	0.0227	0	0.0016	0	0	0	0	7.351e-05	0.0043	0	0.92	0.02315	T	0.725	0.05939	T	0.0	0.02946	B	0.0	0.04355	B	0.696940	0.10126	N	0.878442	1	0.08975	N	-0.69	0.01958	N	2.0	0.21473	T	-0.58	0.17417	N	0.112	0.09914	-0.9622	0.38761	T	0.007	0.02598	T	10	0.0041660964	0.00082	T	.	.	.	0.013	0.01715	.	.	0.0846915920261	0.08053	0.21286890501244446	0.21202	0.109142225108	0.12311	0.306764304638	0.11418	T	0.001597	0.01030	T	-0.701476	0.00036	T	-0.762812	0.03012	T	0.00373547669934692	0.00040	T	0.529047	0.17505	T	0.046249688	0.07707	0.04619954	0.06384	0.046249688	0.07707	0.04619954	0.06384	-3.938	0.22873	T	.	.	0.082	0.08754	B	.;.	.;.	0.722850	0.10919	7.589	0.28453417458393093	0.01462	0.08012	0.13991	N	AEFBI	.	.	.	-1.36749197772027	0.02948	0.1309384	-1.29567073180183	0.04489	0.2118485	3.38785298582644E-4	0.06583	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	1.04	0.19220	0.316000	0.19217	2.537000	0.33196	-0.119000	0.14319	0.002000	0.15269	0.999000	0.35428	0.043000	0.14563	0.2975:0.0:0.5103:0.1922	3.272	0.06480	903	0.23940	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1523.53	38	chr11	113944725	.	G	A	1523.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.538;DP=293;ExcessHet=0;FS=0.732;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.076;SOR=0.804	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1534,0,1313	6	0	1	0
chr11	114530269	114530269	G	C	exonic	NXPE1	.	nonsynonymous SNV	NXPE1:NM_152315:exon3:c.C313G:p.P105A,NXPE1:NM_001367953:exon5:c.C739G:p.P247A	.	431	1028	61	2	0	65	0.0306459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0036	0.00559105	0.0069	0.0011	0.0036	0.0002	0.0003	0.0060	0.0165	0.0222	0.0063065	975	154602	rs45609739	0.0056	0.0056	0.0050	0.0063	0.0227	0.0055	0.0055	0.0207	0.0204	0.0010	0.0036	0.0022	5.038e-05	0.0006	0.0227	0.0050	0.0068	0.0215	0.0042	0.0042	0.0039	0.0045	0.0189	0.0039	0.0038	0.0157	0.0146	0.0010	0.0340	0.0051	0.0020	0	0.0005	0.0204	0.0053	0.0085	0.0189	0.011	0.57480	D	0.037	0.56640	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	D	0.000000	1	0.08975	N	3.145	0.88303	M	1.81	0.64818	T	-5.65	0.93697	D	0.587	0.63035	-0.3800	0.72651	T	0.419	0.76503	T	10	0.005137056	0.00112	T	.	.	.	0.300	0.62068	.	.	0.389439708392	0.38560	0.4717352409557836	0.47092	0.16594407476	0.18725	0.33301743865	0.15389	T	0.236518	0.60401	T	-0.316631	0.07178	T	-0.210675	0.53631	T	0.0314134618907065	0.02212	T	0.90111	0.65631	D	0.39157385	0.60144	0.577302	0.75507	0.39157385	0.60144	0.577302	0.75508	-9.493	0.70815	D	.	.	0.423	0.61041	A	.;.;.;.	.;.;.;.	4.447330	0.69097	25.3	0.99347243344324987	0.60412	0.86495	0.45787	D	AEFBI	0.408249	0.48000	N	0.630376840640656	0.75105	6.247449	0.475806938901561	0.66391	4.945904	0.0134415062130334	0.12466	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	3.630000	0.54014	3.198000	0.36737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.055	0.71574	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	0.026183	0.005051	0.025815	0.008772	0.100000	0.017241	0.039634	0.053030	0.2143	1728.13	33	chr11	114530269	.	G	C	1728.13	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.908;DP=290;ExcessHet=0;FS=0.701;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=1.36;SOR=0.569	GT:AD:DP:GQ:PL	0/1:51,64:115:99:1617,0,1300	5	1	1	0
chr11	117993312	117993312	A	G	exonic	IL10RA	.	nonsynonymous SNV	IL10RA:NM_001558:exon4:c.A439G:p.R147G	Inflammatory bowel disease 28, early onset, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0717440011537	.	.	8.237e-06	9.61e-05	0	0	0	0	0	0	3.84e-05	1	26028	rs761828743	2.053e-06	2.736e-06	2.723e-06	1.375e-06	2.519e-05	5.5e-07	1.5e-07	.	.	0	0	0	2.519e-05	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.0	0.92824	D	0.997	0.70673	D	0.882	0.62632	P	0.026095	0.25978	N	0.345700	1	0.81001	D	2.51	0.73131	M	0.57	0.54347	T	-3.73	0.70920	D	0.541	0.56833	-0.7218	0.59374	T	0.256	0.62597	T	10	0.8555155	0.84746	D	0.071744	0.71350	D	0.274	0.59007	0.748	0.87905	0.900672490495	0.89968	0.8418451913737248	0.84144	0.824285950999	0.67310	0.400044083595	0.25074	T	0.715106	0.91904	D	0.0854496	0.62672	D	-0.115034	0.62208	T	0.97086775302887	0.69105	D	0.80472	0.45238	T	0.43805784	0.63277	0.36247513	0.61652	0.43805784	0.63277	0.36247513	0.61652	-4.302	0.28205	T	0.6923835387828834	0.77030	0.427	0.61035	A	.	.	3.517023	0.49280	22.8	0.99741053185413631	0.83482	0.79830	0.39636	D	AEFBCI	0.609030	0.59838	D	0.291344117319321	0.55710	3.735001	0.221384121503162	0.51035	3.28967	0.997764421165448	0.36002	0.645754	0.44609	0	0.696144	0.67643	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.73	3.23	0.36150	2.610000	0.45990	3.191000	0.36704	0.756000	0.94297	1.000000	0.71638	0.980000	0.30356	0.176000	0.21171	0.6505:0.3495:0.0:0.0	9.433	0.37787	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1089.53	33	chr11	117993312	.	A	G	1089.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.591;DP=270;ExcessHet=0;FS=1.681;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.653;SOR=0.51	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1100,0,1690	6	0	1	0
chr11	119101571	119101571	T	A	exonic	DPAGT1	.	nonsynonymous SNV	DPAGT1:NM_001382:exon1:c.A85T:p.I29F	Congenital disorder of glycosylation, type Ij, Autosomal recessive;Myasthenic syndrome, congenital, 13, with tubular aggregates, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	76382	DPAGT1-congenital_disorder_of_glycosylation|Congenital_myasthenic_syndrome_13	MONDO:MONDO:0011964,MedGen:C2931004,OMIM:608093,Orphanet:86309|MONDO:MONDO:0013883,MedGen:C3553645,OMIM:614750,Orphanet:353327,Orphanet:590	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.815	0.748715405601	.	.	0.0001	0	0	0	0	1.5e-05	0	0.0009	0.0001035	16	154602	rs397515328	6.498e-05	6.498e-05	3.811e-05	9.213e-05	0.0008	5.428e-05	5.041e-05	0.0007	0.0006	0	0	0	0	0	0.0002	1.529e-05	8.279e-05	0.0008	1.314e-05	1.313e-05	1.284e-05	1.345e-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	0.045	0.40832	D	0.032	0.53426	D	0.246	0.31102	B	0.224	0.37970	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	-3.19	0.93170	D	-3.26	0.65397	D	0.972	0.98268	0.720	0.93421	D	0.826	0.94164	D	10	0.70102996	0.72445	D	0.748715	0.97994	D	0.815	0.94046	0.611	0.74418	0.985751839367	0.98559	0.9366662413253155	0.93646	1.33609069953	0.83747	0.656903743744	0.60967	T	0.790513	0.94553	D	0.219696	0.75747	D	0.464815	0.93897	D	0.726040661334991	0.42006	D	0.938006	0.76748	D	0.86095744	0.88159	0.7749982	0.86724	0.8263322	0.85651	0.740403	0.84656	-11.031	0.79828	D	0.5124130710261844	0.58597	0.699	0.72927	P	.;.;.	.;.;.	4.439052	0.68904	25.3	0.99016158140785737	0.50484	0.87979	0.47712	D	ALL	0.936542	0.93302	D	0.416738678260587	0.62342	4.448596	0.502840850501368	0.68183	5.184812	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.65	5.65	0.86881	7.674000	0.83146	7.788000	0.68824	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	14.843	0.69869	228	0.91137	.;.;.	.	.	.	.	.	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	866.53	34	chr11	119101571	.	T	A	866.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.48;DP=235;ExcessHet=0;FS=3.6;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.152;SOR=0.942	GT:AD:DP:GQ:PL	0/1:24,38:62:99:877,0,414	6	0	1	0
chr11	121130097	121130097	C	A	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon10:c.C2827A:p.L943M,TBCEL-TECTA:NM_001378761:exon16:c.C3784A:p.L1262M	.	0	1511	11	0	0	11	0.00362677	.	.	YES	175081	Autosomal_recessive_nonsyndromic_hearing_loss_21|not_specified|Autosomal_dominant_nonsyndromic_hearing_loss_12|not_provided	MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636|MedGen:CN169374|MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.236	0.0192268719862	0.0003	0.000599042	0.0003	0	0.0002	0	0.0002	0.0004	0	0.0002	0.0002458	38	154602	rs139158022	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	5.974e-05	0.0003	3.826e-05	0	7.555e-05	0.0014	0.0002	0.0004	0.0004	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0009	0.0008	2.406e-05	0	0.0014	0	0	0	0.0034	0.0002	0	0.0012	0.263	0.16412	T	0.828	0.03739	T	0.63	0.40197	P	0.285	0.40506	B	0.000006	0.62929	D	0.064020	0.56821	0.31200	N	0.275	0.09989	N	-1.08	0.77078	T	-0.1	0.08495	N	0.261	0.30687	-0.6770	0.61511	T	0.208	0.56744	T	10	0.10588884	0.19595	T	0.019227	0.41536	T	0.236	0.53931	.	.	0.737386399311	0.73503	0.6192041124274965	0.61853	0.540633260378	0.51256	0.62799680233	0.56861	T	0.100159	0.40568	T	-0.25307	0.13724	T	-0.30097	0.44623	T	0.0263128770430674	0.01448	T	0.683432	0.29175	T	0.19398151	0.41130	0.16958521	0.39004	0.19398151	0.41130	0.16958521	0.39004	-4.538	0.31382	T	0.05524843844864668	0.01217	0.356	0.56933	A	.;.;.	.;.;.	1.834828	0.23309	15.97	0.98570378493641309	0.43102	0.76528	0.37540	D	AEFDBHCI	0.171527	0.29851	N	-0.140451599339448	0.35641	2.049851	-0.0204268381083586	0.38793	2.290673	0.638455769395831	0.22031	0.553676	0.25195	0	0.610034	0.51514	0	0.550215	0.18615	0	0.620846	0.47308	0	.	.	5.78	2.88	0.32617	0.658000	0.24662	1.717000	0.28234	0.598000	0.34611	0.994000	0.38300	0.997000	0.33255	0.999000	0.91618	0.0:0.6651:0.0:0.3349	9.341	0.37244	778	0.48011	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	1214.49	34	chr11	121130097	.	C	A	1214.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.782;DP=311;ExcessHet=0;FS=2.433;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.336;SOR=0.999	GT:AD:DP:GQ:PL	0/1:64,52:116:99:1225,0,1689	6	0	1	0
chr11	123805658	123805658	C	T	exonic	OR6M1	.	nonsynonymous SNV	OR6M1:NM_001005325:exon1:c.G692A:p.R231H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0082	0.0091853	0.0025	0.0264	0.0015	0.0003	0	0.0002	0.0011	6.069e-05	0.0024515	379	154602	rs77812199	0.0009	0.0009	0.0010	0.0007	0.0274	0.0008	0.0008	0.0260	0.0254	0.0274	0.0022	0	0.0007	0	0.0007	7.824e-05	0.0018	4.639e-05	0.0077	0.0077	0.0079	0.0076	0.0267	0.0073	0.0072	0.0254	0.0249	0.0267	0	0.0021	0	0.0008	0	0	0.0001	0.0071	0.0008	0.013	0.53900	D	0.015	0.61642	D	0.552	0.38158	P	0.262	0.39564	B	0.004465	0.33710	U	0.000000	1	0.08975	N	3.045	0.86684	M	8.07	0.00306	T	-4.52	0.78302	D	0.09	0.06854	-1.0031	0.29021	T	0.001	0.00255	T	10	0.0029399395	0.00047	T	.	.	.	0.094	0.27141	.	.	0.366277470483	0.36239	0.18875490100788272	0.18793	0.202802321583	0.22698	0.171461999416	0.00038	T	0.007283	0.06695	T	-0.670848	0.00054	T	-0.716131	0.04984	T	0.0630678438348717	0.07643	T	0.90391	0.66280	D	0.4810023	0.65961	0.27054328	0.52946	0.4810023	0.65961	0.27054328	0.52945	-8.715	0.65844	D	.	.	0.172	0.37652	B	.	.	1.837775	0.23349	15.98	0.98125755454022234	0.38473	0.17214	0.19739	N	AEFBI	0.051407	0.09078	N	-0.369537508837188	0.26561	1.450486	-0.567312498997996	0.20348	1.09588	1.62616299877983E-4	0.05721	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	2.57	0.29928	0.117000	0.15414	-4.895000	0.01937	0.528000	0.24546	0.000000	0.06391	0.000000	0.08366	0.818000	0.38543	0.0:0.878:0.0:0.122	8.276	0.31033	718	0.55760	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	0.003525	0.005051	0.005435	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	1537.44	45	chr11	123805658	.	C	T	1537.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.32;DP=322;ExcessHet=0;FS=2.314;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.145;SOR=0.644	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1548,0,1442	6	0	1	0
chr11	124619432	124619432	T	A	exonic	PANX3	.	nonsynonymous SNV	PANX3:NM_052959:exon4:c.T676A:p.Y226N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	.	0.009	0.00519169	0.0021	0.0222	0.0012	0	0	4.497e-05	0	6.058e-05	0.001837	284	154602	rs35607342	0.0006	0.0006	0.0007	0.0005	0.0224	0.0006	0.0006	0.0211	0.0206	0.0224	0.0014	0	0	0	0.0009	8.093e-06	0.0010	5.797e-05	0.0067	0.0067	0.0067	0.0068	0.0232	0.0064	0.0063	0.0220	0.0215	0.0232	0	0.0032	0	0	0	0	1.47e-05	0.0052	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	0.999993	0.58761	D	2.525	0.73725	M	1.57	0.29342	T	-6.09	0.89947	D	0.956	0.96531	-0.7631	0.57237	T	0.091	0.34847	T	10	0.015671253	0.00329	T	.	.	.	0.602	0.84291	.	.	0.342400092842	0.33857	0.8383497034669378	0.83794	0.775707338762	0.65018	0.684334516525	0.64891	T	0.307036	0.67921	T	-0.398297	0.02376	T	-0.327317	0.41767	T	0.0387994544671015	0.03475	T	0.861414	0.55526	D	0.8734354	0.89135	0.8378145	0.90694	0.8734354	0.89137	0.8378145	0.90695	-9.242	0.69242	D	.	.	0.617	0.69575	P	.	.	4.558509	0.71814	25.7	0.99119240934038766	0.52932	0.98297	0.81376	D	AEFBI	0.929363	0.91500	D	0.715394799588615	0.80640	7.339608	0.642017238418222	0.78018	6.792392	0.999999807183625	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.24	5.24	0.72863	7.482000	0.80187	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.721000	0.34804	0.0:0.0:0.0:1.0	15.131	0.72197	621	0.65931	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	2866.44	36	chr11	124619432	.	T	A	2866.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.1;DP=419;ExcessHet=0;FS=1.068;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.446;SOR=0.805	GT:AD:DP:GQ:PL	0/1:107,109:216:99:2877,0,2712	6	0	1	0
chr11	124896641	124896641	G	A	exonic	ROBO4	.	nonsynonymous SNV	ROBO4:NM_019055:exon3:c.C430T:p.R144W	.	.	.	.	.	.	.	.	.	.	.	2852054	Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.348	0.0847009561159	0.0011	0.000599042	0.0002	0.0027	0	0.0001	0	1.518e-05	0	0	0.0002393	37	154602	rs112424754	8.209e-05	8.209e-05	9.393e-05	7.013e-05	0.0023	7.002e-05	6.552e-05	0.0019	0.0018	0.0023	6.709e-05	0	0.0003	0	0	1.169e-05	0.0002	2.319e-05	0.0009	0.0009	0.0008	0.0009	0.0030	0.0007	0.0007	0.0026	0.0024	0.0030	0	6.533e-05	0	0.0006	0	0	0	0.0005	0	0.01	0.56456	D	0.01	0.65728	D	0.964	0.55854	D	0.536	0.48739	P	0.590220	0.05587	N	1.296710	0.999707	0.48408	D	2.905	0.84014	M	-0.37	0.68892	T	-2.06	0.47175	N	0.386	0.42737	-0.4580	0.70135	T	0.360	0.72178	T	10	0.034432143	0.01652	T	0.084701	0.74380	D	0.348	0.66956	.	.	0.839621494985	0.83809	0.5263966493640964	0.52563	0.381747276443	0.39521	0.204213440418	0.00589	T	0.54083	0.84275	D	-0.359603	0.04152	T	-0.293625	0.45395	T	0.191553948462089	0.19936	T	0.852015	0.53695	D	0.07623025	0.17225	0.08222913	0.18749	0.07623025	0.17225	0.08222913	0.18749	-6.882	0.53166	T	0.3223709994472205	0.42051	0.119	0.24329	B	.	.	5.816692	0.93679	33	0.99909018666284133	0.97875	0.75918	0.37197	D	AEFDBCI	0.615659	0.60251	D	0.494252024150094	0.66751	4.991105	0.484554742458855	0.66965	5.021357	0.999999659765631	0.74766	0.542737	0.22433	0	0.610034	0.51514	0	0.547309	0.15389	0	0.638787	0.57140	0	.	.	5.82	5.82	0.92740	2.598000	0.45887	.	.	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.601000	0.31412	0.0796:0.0:0.7599:0.1606	7.962	0.29238	714	0.56256	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1420.44	35	chr11	124896641	.	G	A	1420.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.57;DP=269;ExcessHet=0;FS=3.188;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=0.542;SOR=1.179	GT:AD:DP:GQ:PL	0/1:28,53:81:99:1431,0,573	6	0	1	0
chr11	128840209	128840209	C	T	exonic	KCNJ1	.	nonsynonymous SNV	KCNJ1:NM_000220:exon2:c.G92A:p.R31H,KCNJ1:NM_153764:exon2:c.G35A:p.R12H,KCNJ1:NM_153765:exon3:c.G86A:p.R29H,KCNJ1:NM_153766:exon3:c.G35A:p.R12H,KCNJ1:NM_153767:exon4:c.G35A:p.R12H	Bartter syndrome, type 2, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	326471	not_provided|Bartter_disease_type_2	MedGen:C3661900|MONDO:MONDO:0009424,MedGen:C1855849,OMIM:241200,Orphanet:112,Orphanet:620220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.246	0.0460268457797	.	0.000199681	0.0002	0	0	0	0	4.496e-05	0	0.0015	0.000207	32	154602	rs566704910	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0016	0.0016	0	0	3.826e-05	0	0	0.0017	1.529e-05	0.0003	0.0019	9.852e-05	9.843e-05	7.711e-05	0.0001	0.0027	6.004e-05	4.878e-05	0.0016	0.0013	0	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0027	0.739	0.04629	T	0.7	0.05727	T	0.0	0.02946	B	0.0	0.01387	B	0.128955	0.02792	U	2.062200	1	0.08975	N	-1.525	0.00485	N	-2.61	0.94621	D	0.65	0.03407	N	0.054	0.04426	-0.3524	0.73484	T	0.621	0.86634	D	10	0.008011937	0.00182	T	0.046027	0.62262	D	0.246	0.55340	0.551	0.66716	0.45783149361	0.45410	0.6071759400858646	0.60649	0.0386463307978	0.04113	0.205266654491	0.00626	T	0.281217	0.65394	T	-0.342922	0.05188	T	-0.272624	0.47554	T	0.0128112898808513	0.00218	T	0.765423	0.39305	T	0.020394236	0.00597	0.035258166	0.02744	0.019188985	0.00445	0.0342259	0.02453	-5.046	0.37336	T	.	.	0.086	0.10449	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.416597	0.02152	0.208	0.14078679226677732	0.00298	0.00546	0.02508	N	AEFBI	0.044877	0.07272	N	-1.24024651808761	0.04429	0.199891	-1.23956307757506	0.05288	0.2515665	0.992248289069147	0.32771	0.553676	0.25195	0	0.624146	0.53433	0	0.618467	0.43123	0	0.677038	0.66255	0	.	.	5.52	-2.15	0.06705	-0.146000	0.10233	-3.593000	0.02671	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.015000	0.10482	0.0:0.0994:0.0:0.9006	14.963	0.70822	415	0.81806	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	2069.46	34	chr11	128840209	.	C	T	2069.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.131;DP=350;ExcessHet=0;FS=0.624;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.03;SOR=0.631	GT:AD:DP:GQ:PL	0/1:71,82:153:99:2080,0,1688	6	0	1	0
chr12	66923	66923	A	G	exonic	IQSEC3	.	nonsynonymous SNV	IQSEC3:NM_001170738:exon1:c.A41G:p.Y14C	.	403	1104	15	0	0	15	0.00674764	.	.	.	702484	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.296	0.43870859083	.	.	0.0036	0.0064	0	0	0.0034	0.0055	0	0.0029	0.0004786	74	154602	rs182407328	0.0023	0.0051	0.0021	0.0026	0.0046	0.0023	0.0022	0.0038	0.0036	0.0005	0.0026	0.0048	9.147e-05	0.0014	0.0046	0.0022	0.0032	0.0042	0.0024	0.0048	0.0028	0.0019	0.0042	0.0022	0.0021	0.0038	0.0036	0.0009	0	0.0013	0.0026	0.0002	0.0004	0	0.0042	0.0014	0.0013	0.016	0.51853	D	0.001	0.83351	D	.	.	.	.	.	.	0.000020	0.00348	U	44.727500	0.974727	0.39128	D	2.02	0.55341	M	1.19	0.37578	T	-2.1	0.47852	N	0.722	0.72388	-1.0223	0.22965	T	0.054	0.22693	T	8	0.054054618	0.05695	T	0.438709	0.94123	D	0.296	0.61616	.	.	0.602354408032	0.59918	0.7746733903099785	0.77417	3.5385108973	0.99787	0.95681399107	0.99871	D	0.063062	0.32078	T	0.0432018	0.57464	T	-0.17572	0.56918	T	0.0529291941402622	0.06008	T	0.982102	0.93912	D	0.3015935	0.53047	0.352496	0.60826	0.3015935	0.53047	0.352496	0.60826	-7.057	0.54449	T	.	.	0.976	0.90447	P	.	.	5.120174	0.85639	28.7	0.99499855407407245	0.67973	0.11704	0.16808	N	ALL	0.853262	0.77021	D	0.227062552256713	0.52515	3.425	0.204611699852919	0.50104	3.205901	0.980017057935433	0.30088	0.443343	0.08805	1	0.573888	0.26702	0	0.666236	0.60216	0	0.562822	0.20929	0	.	.	3.68	3.68	0.41359	5.119000	0.64517	10.443000	0.83347	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	10.359	0.43163	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.009639	0.011111	0.019231	0.000000	0.000000	0.008929	0.006897	0.000000	0.07143	359.46	45	chr12	66923	.	A	G	359.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.2;DP=286;ExcessHet=0;FS=7.289;MLEAC=1;MLEAF=0.071;MQ=56.39;MQRankSum=-9.456;QD=3.91;ReadPosRankSum=-1.018;SOR=1.623	GT:AD:DP:GQ:PL	0/1:73,19:92:99:370,0,1909	6	0	1	0
chr12	318262	318262	G	T	exonic	KDM5A	.	nonsynonymous SNV	KDM5A:NM_001042603:exon19:c.C2741A:p.P914Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0428452975258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.061	0.37326	T	0.07	0.43721	T	0.993	0.65571	D	0.838	0.60045	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.93	0.51437	L	0.98	0.42122	T	-4.29	0.76414	D	0.561	0.58543	-0.7231	0.59309	T	0.223	0.58627	T	10	0.5399285	0.63661	D	0.042845	0.60676	D	0.280	0.59740	0.45	0.51121	0.184605227958	0.18053	0.38563763180842353	0.38478	0.220612890184	0.24604	0.621160387993	0.55893	T	0.276526	0.64911	T	-0.0344392	0.46768	T	-0.287246	0.46058	T	0.955062925815582	0.64416	D	0.917708	0.72522	D	0.3444305	0.56630	0.36088032	0.61522	0.3444305	0.56630	0.36088032	0.61522	-8.85	0.66726	D	.	.	0.199	0.42215	B	.;.	.;.	3.682017	0.52413	23.2	0.99023772880705485	0.50634	0.99655	0.98387	D	AEFGBI	0.848530	0.76535	D	0.539568429180236	0.69449	5.358498	0.508373073041458	0.68551	5.235879	0.999999999724834	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	6.398000	0.73168	9.944000	0.82678	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	18.476	0.90742	873	0.30802	Lysine-specific demethylase-like domain;Lysine-specific demethylase-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2323.44	42	chr12	318262	.	G	T	2323.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.18;DP=418;ExcessHet=0;FS=0.52;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-1.383;SOR=0.751	GT:AD:DP:GQ:PL	0/1:108,93:201:99:2334,0,2412	6	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1125.34	42	chr12	4591261	.	G	C	1125.34	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.171;DP=375;ExcessHet=3.1439;FS=570.035;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0.45;SOR=9.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,24:67:99:.:.:165,0,492:.	2	0	4	1
chr12	6123142	6123142	C	T	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon2:c.G55A:p.G19R	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	.	.	.	.	.	.	0.9960	0.85	YES	106309	von_Willebrand_disease_type_1|von_Willebrand_disease_type_3|not_specified|not_provided	MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903|MONDO:MONDO:0010191,MedGen:C1264041,OMIM:277480,Orphanet:166096|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.260	0.103347746697	.	0.000199681	0.0002	0	0	0	0	4.5e-05	0.0011	0.0009	0.0001358	21	154602	rs61753983	7.251e-05	7.251e-05	2.859e-05	0.0001	0.0011	6.114e-05	5.699e-05	0.0009	0.0008	0	0	0	7.557e-05	0	0.0002	7.194e-06	4.967e-05	0.0011	5.252e-05	5.249e-05	1.285e-05	9.399e-05	0.0012	2.555e-05	1.829e-05	0.0005	0.0004	0	0	0	0	0	0	0	2.94e-05	0	0.0012	0.002	0.72154	D	0.001	0.83351	D	0.952	0.54136	P	0.621	0.51426	P	0.068664	0.21657	N	0.248759	0.998325	0.81001	D	2.125	0.59049	M	1.23	0.36872	T	-0.87	0.23590	N	0.883	0.88137	-0.8378	0.52793	T	0.201	0.55766	T	10	0.4282223	0.57317	T	0.103348	0.77733	D	0.260	0.57221	0.738	0.87063	0.83683909362	0.83528	0.4535667984545484	0.45274	0.820355342577	0.67139	0.445899605751	0.31384	T	0.353069	0.72041	T	-0.194942	0.21536	T	-0.12162	0.61670	T	0.276956379413605	0.24043	T	0.839916	0.51465	T	0.22780865	0.45488	0.26353857	0.52162	0.25539348	0.48573	0.32671976	0.58576	-4.826	0.34893	T	.	.	0.142	0.31228	B	.	.	5.574601	0.92249	32	0.97485662904544224	0.34214	0.76198	0.37353	D	AEFBCI	0.842395	0.75951	D	0.456413400768772	0.64566	4.714286	0.391934291945737	0.61067	4.301773	0.999994556484715	0.74766	0.542737	0.22433	0	0.563428	0.19063	0	0.547309	0.15389	0	0.638787	0.57140	0	.	.	4.63	4.63	0.57175	3.242000	0.51082	7.068000	0.57430	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.328000	0.25156	0.0:1.0:0.0:0.0	13.166	0.58994	788	0.46569	von Willebrand factor, type D 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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1413.63	34	chr12	6123142	.	C	T	1413.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.904;DP=285;ExcessHet=0;FS=1.468;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.465;SOR=0.56	GT:AD:DP:GQ:PL	0/1:54,62:116:99:1424,0,1262	6	0	1	0
chr12	6826801	6826801	A	G	exonic	GPR162	.	nonsynonymous SNV	GPR162:NM_014449:exon5:c.A512G:p.Y171C,GPR162:NM_019858:exon5:c.A1364G:p.Y455C	.	417	1088	16	1	0	18	0.00820419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	.	.	0.0153754	0.0087	0.0003	0.0003	0	0	0.0002	0.0058	0.0702	0.0076648	1185	154602	rs200776021	0.0039	0.0040	0.0022	0.0056	0.0609	0.0038	0.0038	0.0595	0.0590	0.0002	0.0002	0.0005	0.0001	1.882e-05	0.0017	0.0002	0.0045	0.0609	0.0023	0.0023	0.0012	0.0035	0.0699	0.0021	0.0021	0.0638	0.0614	0.0002	0	0.0001	0.0006	0.0002	0	0	7.352e-05	0.0009	0.0699	0.011	0.55530	D	0.121	0.46182	T	0.964	0.55854	D	0.431	0.45421	B	.	.	.	.	0.924275	0.28162	N	0.975	0.24501	L	3.07	0.44856	T	-0.93	0.45769	N	0.222	0.34659	-1.0747	0.08410	T	0.073	0.29643	T	9	0.0024323761	0.00036	T	.	.	.	0.131	0.35738	.	.	0.705647642926	0.70308	0.36747106216787534	0.36661	0.0129100740628	0.01244	0.549777626991	0.45826	T	0.017868	0.14505	T	-0.388125	0.02765	T	-0.283955	0.46397	T	0.0392571802638366	0.03555	T	0.814119	0.47860	T	0.092583135	0.21723	0.097328715	0.23163	0.092583135	0.21723	0.097328715	0.23162	-3.257	0.13189	T	.	.	0.143	0.42706	B	.;.;.	.;.;.	3.280760	0.44954	22.0	0.97989335285926371	0.37386	0.90365	0.51483	D	AEFDBI	0.486598	0.52570	N	0.05883314964417	0.44549	2.726987	0.111857592802175	0.45154	2.783664	0.999996469712339	0.74766	0.700653	0.57754	0	0.596491	0.49125	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	4.24	4.24	0.49486	1.749000	0.37946	9.283000	0.79730	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.776000	0.36750	0.7533:0.0:0.0:0.2467	7.494	0.26650	549	0.72275	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.005848	0.000000	0.000000	0.003049	0.018939	0.07143	970.53	28	chr12	6826801	.	A	G	970.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.998;DP=286;ExcessHet=0;FS=0.884;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.117;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,41:73:99:0|1:6826801_A_G:981,0,1163:6826801	6	0	1	0
chr12	8059628	8059628	G	T	exonic	C3AR1	.	nonsynonymous SNV	C3AR1:NM_001326475:exon2:c.C558A:p.D186E,C3AR1:NM_001326477:exon2:c.C558A:p.D186E,C3AR1:NM_004054:exon2:c.C558A:p.D186E	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0205268407197	.	.	7.42e-05	9.677e-05	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs61736562	2.941e-05	2.941e-05	6.806e-06	5.225e-05	0.0005	2.216e-05	1.97e-05	0.0003	0.0003	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0.0005	1.97e-05	1.968e-05	0	4.028e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.166	0.23183	T	0.125	0.35330	T	0.011	0.15914	B	0.011	0.15521	B	.	.	.	.	0.999999	0.08975	N	0	0.06538	N	-0.56	0.71187	T	-1.27	0.31981	N	0.08	0.05542	-1.0222	0.22998	T	0.118	0.41385	T	9	0.053545564	0.05563	T	0.020527	0.43144	T	0.065	0.18881	0.504	0.59770	0.44711355012	0.44333	0.353672499406675	0.35281	0.0352992055262	0.03723	0.317698955536	0.13072	T	0.094721	0.39475	T	-0.395319	0.02484	T	-0.483658	0.24058	T	0.0234805703975543	0.01081	T	0.317868	0.06361	T	0.049032632	0.08643	0.04137633	0.04687	0.049032632	0.08643	0.04137633	0.04687	-4.197	0.26708	T	.	.	0.162	0.35767	B	.	.	0.312656	0.06877	3.411	0.81800958687200431	0.13866	0.11515	0.16685	N	AEFBI	0.128478	0.24626	N	-1.52058679301861	0.01714	0.07503919	-1.52181013148014	0.02177	0.09972328	0.996351395632851	0.34689	0.569682	0.32691	0	0.547309	0.14657	0	0.657636	0.52715	0	0.613276	0.41899	0	.	.	4.28	-1.25	0.08920	0.252000	0.18046	0.594000	0.19852	-0.868000	0.02581	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4196:0.163:0.4174:0.0	4.449	0.11035	929	0.16858	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	3993.02	37	chr12	8059628	.	G	T	3993.02	.	AC=2;AF=0.143;AN=14;DP=306;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.69;SOR=1.099	GT:AD:DP:GQ:PL	1/1:0,126:126:99:4013,377,0	6	1	0	0
chr12	8932637	8932637	-	TGA	exonic	PHC1	.	nonframeshift insertion	PHC1:NM_004426:exon8:c.1180_1181insTGA:p.V394_I395insM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.471e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs760554070	1.163e-05	1.915e-05	1.361e-06	2.2e-05	0.0002	7.09e-06	5.79e-06	0.0001	8.647e-05	0	2.236e-05	0	0	0	0	0	1.656e-05	0.0002	6.568e-06	1.313e-05	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	93.4	40	chr12	8932637	.	G	GTGA	93.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=455;ExcessHet=0;FS=6.165;MLEAC=1;MLEAF=0.071;MQ=52.21;MQRankSum=-5.645;QD=0.37;ReadPosRankSum=-1.095;SOR=1.435	GT:AD:DP:GQ:PL	0/1:231,20:251:99:104,0,9511	6	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	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	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.07143	290.46	41	chr12	10930916	.	C	T	290.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.819;DP=331;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=42.83;MQRankSum=-1.721;QD=2.74;ReadPosRankSum=0.622;SOR=0.555	GT:AD:DP:GQ:PL	0/1:87,19:106:99:301,0,2425	6	0	1	0
chr12	11308825	11308825	G	T	exonic	PRB4	.	nonsynonymous SNV	PRB4:NM_001261399:exon3:c.C158A:p.P53H,PRB4:NM_002723:exon3:c.C158A:p.P53H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000724737728306	.	.	8.342e-06	0	0	0	0	0	0	6.071e-05	6.5e-06	1	154602	rs145538331	0.0003	0.0091	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0005	0.0002	0.0007	0.0008	0.0004	0	0.0002	0.0005	3.579e-05	0.0008	0.0070	0.0008	0.0007	0.0013	0.0006	0.0006	0.0005	0.0005	0.0008	0	0.0009	0.0009	0.0007	0.0008	0	0.0006	0.0028	0.0013	0.086	0.32610	T	0.079	0.42086	T	0.62	0.39915	P	0.192	0.36449	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	-1.82	0.42763	N	0.189	0.24385	-1.0172	0.24625	T	0.013	0.04985	T	8	0.094213486	0.16733	T	7.25E-4	0.00472	T	0.038	0.09825	0.307	0.27806	0.0297737177859	0.01360	0.14867610920793883	0.14789	5.39720892046E-4	0.00050	.	.	.	0.009784	0.08886	T	-0.461542	0.00962	T	-0.717981	0.04894	T	0.0491737318569793	0.05354	T	0.30297	0.06003	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.05103	B	.;.;.;.	.;.;.;.	-1.486722	0.00303	0.005	0.13684848466116051	0.00278	0.00057	0.00426	N	AEFBI	0.022063	0.01057	N	-1.78961807863172	0.00571	0.02459707	-2.02858908995553	0.00266	0.01174935	0.00233645441564733	0.09333	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.618	-1.24	0.08948	-3.359000	0.00553	-12.909000	0.00492	-10.517000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	128.24	115	chr12	11308825	.	G	T	128.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.586;DP=1187;ExcessHet=0.3476;FS=1.072;MLEAC=2;MLEAF=0.143;MQ=58.51;MQRankSum=-13.09;QD=0.22;ReadPosRankSum=-5.77;SOR=0.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,22:293:88:0|1:11308772_G_T:88,0,10964:11308772	5	0	2	0
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACAGACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATDLKVPHLQESHKDHPHKETSPE	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0055	0.0042	0.0054	0.0017	0.0025	0	0.0074	.	.	.	.	0.0047	0.0049	0.0045	0.0050	0.0662	0.0046	0.0046	0.0612	0.0593	0.0040	0.0065	0.0131	0.0662	0.0167	0.0024	0.0033	0.0074	0.0029	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4402.39	24	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	4402.39	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.1;DP=365;ExcessHet=0;FS=17.434;MLEAC=2;MLEAF=0.143;MQ=48.59;MQRankSum=-5.739;QD=27.18;ReadPosRankSum=-1.781;SOR=1.619	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:57,105:162:99:1|1:11353413_G_A:4423,180,0:11353413	6	1	0	0
chr12	11393260	11393260	T	C	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.A818G:p.K273R,PRB2:NM_006248:exon3:c.A818G:p.K273R	.	636	885	1	0	0	1	0.000564653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.000467316066992	.	0.00179712	0.0007	0.0001	0.0005	0.0007	0.0008	0.0001	0.0024	0.0035	0.0014984	39	26028	rs369970384	0.0008	0.0008	0.0006	0.0010	0.0076	0.0008	0.0007	0.0070	0.0068	0.0003	0.0004	0	0.0034	0.0006	0.0014	0.0002	0.0009	0.0076	0.0002	0.0003	0.0002	0.0002	0.0022	0.0001	8.063e-05	.	.	0.0001	0	0	0	0	0.0014	0	5.3e-05	0.0019	0.0022	.	.	.	0.761	0.04619	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.59	0.04544	T	-0.18	0.09796	N	0.09	0.06854	-0.9094	0.46928	T	0.007	0.02360	T	9	0.008434325	0.00191	T	4.67E-4	0.00124	T	0.002	0.00045	.	.	0.0297737177859	0.01360	0.044343860196678464	0.04378	0.0562448936161	0.06214	.	.	.	.	.	.	-0.669785	0.00055	T	-0.732264	0.04225	T	0.00196538983542656	0.00020	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.29995	B	.	.	0.369699	0.07422	4.050	0.34869384745235832	0.02157	0.00358	0.01837	N	AEFI	0.030497	0.03083	N	-1.4847164910217	0.01957	0.08594914	-1.5831365893709	0.01758	0.07998625	4.26861188488496E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.23	-2.46	0.06089	-0.004000	0.12813	0.000000	0.13247	0.244000	0.18284	0.001000	0.13787	0.012000	0.20211	0.002000	0.04165	0.0:0.0:0.3813:0.6187	4.495	0.11241	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	0.003195	0.005102	0.000000	0.004132	0.000000	0.008621	0.000000	0.011450	0.07143	812.45	148	chr12	11393260	.	T	C	812.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.05;DP=1025;ExcessHet=0;FS=8.774;MLEAC=1;MLEAF=0.071;MQ=53.12;MQRankSum=-0.855;QD=5.68;ReadPosRankSum=-2.879;SOR=1.435	GT:AD:DP:GQ:PL	0/1:104,39:143:99:823,0,2729	6	0	1	0
chr12	11393446	11393446	T	C	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.A632G:p.K211R,PRB2:NM_006248:exon3:c.A632G:p.K211R	.	640	880	2	0	0	2	0.00113507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000928897356501	.	.	0.0011	0	0.0003	0	0	0.0001	0.0036	0.0088	3.84e-05	1	26028	rs11054276	0.0005	0.0004	0.0003	0.0006	0.0058	0.0004	0.0004	0.0053	0.0052	0	0.0001	0	4.165e-05	0	0.0007	5.417e-05	0.0006	0.0058	9.122e-05	6.199e-05	9.246e-05	9.003e-05	0.0002	3.026e-05	1.832e-05	3.353e-05	1.828e-05	0	0	0.0002	0	0	0	0	0.0001	0	0	.	.	.	0.787	0.04234	T	.	.	.	.	.	.	0.085243	0.02397	U	3.389640	0.999999	0.08975	N	.	.	.	3.59	0.04544	T	-0.44	0.14588	N	0.079	0.05414	-0.9611	0.38974	T	0.009	0.03227	T	10	0.006696433	0.00152	T	9.29E-4	0.00911	T	0.038	0.09825	0.37	0.38013	0.0297737177859	0.01360	0.05175726249241457	0.05117	0.0562448936161	0.06214	.	.	.	.	.	.	-0.367246	0.03736	T	-0.7653	0.02926	T	0.0239600490539732	0.01140	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.35808	B	.	.	0.121771	0.05193	1.705	0.93480478146999102	0.23277	0.00054	0.00410	N	AEFBI	0.021918	0.01033	N	-0.912762067602623	0.10543	0.5042915	-1.04985506804406	0.08710	0.4295901	1.79930721206727E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.892	0.892	0.18364	-1.613000	0.02161	-3.863000	0.02488	-0.407000	0.05276	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.0:1.0	4.210	0.09965	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	0.011158	0.025773	0.004076	0.004098	0.050000	0.017544	0.012270	0.011450	0.07143	783.44	148	chr12	11393446	.	T	C	783.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.337;DP=1166;ExcessHet=0;FS=0.516;MLEAC=1;MLEAF=0.071;MQ=54.37;MQRankSum=-1.486;QD=2.78;ReadPosRankSum=1.45;SOR=0.697	GT:AD:DP:GQ:PL	0/1:217,65:282:99:794,0,5466	6	0	1	0
chr12	12126883	12126883	C	T	exonic	LRP6	.	nonsynonymous SNV	LRP6:NM_002336:exon20:c.G4120A:p.V1374I	Tooth agenesis, selective, 7, Autosomal dominant	419	1098	5	0	0	5	0.00227169	.	.	.	724943	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.096	.	7.7e-05	0.00339457	0.0026	9.61e-05	8.642e-05	0.0001	0	0	0.0011	0.0192	0.0022445	347	154602	rs373718225	0.0013	0.0013	0.0007	0.0018	0.0195	0.0012	0.0012	0.0187	0.0184	5.974e-05	0	0	0	0	0.0007	5.126e-05	0.0014	0.0195	0.0007	0.0007	0.0005	0.0010	0.0210	0.0006	0.0006	0.0176	0.0164	0.0001	0	0	0	0.0002	0	0	2.94e-05	0	0.0210	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.002483	0.36462	N	0.117881	0.929854	0.81001	D	-1.525	0.00485	N	0.9	0.45248	T	0.19	0.05035	N	0.154	0.24260	-0.9998	0.29973	T	0.032	0.13548	T	10	0.0063863695	0.00145	T	.	.	.	0.096	0.27654	.	.	0.165150595986	0.16160	0.2551074632314068	0.25424	0.13911121961	0.15683	0.601883292198	0.53170	T	0.333331	0.70319	T	-0.585354	0.00179	T	-0.598002	0.12979	T	0.0405827163881705	0.03796	T	.	.	.	0.02616225	0.01640	0.03409556	0.02415	0.020941708	0.00672	0.030796729	0.01580	-3.732	0.19791	T	.	.	0.068	0.02733	B	.;.	.;.	2.547955	0.32975	19.20	0.87081105071329545	0.16975	0.82064	0.41350	D	AEFGBI	0.164255	0.29063	N	-0.254576191123986	0.30922	1.728776	0.0591590871078396	0.42515	2.572947	0.999983557735531	0.51787	0.732398	0.92422	0	0.708844	0.79440	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.84	5.84	0.93373	4.681000	0.61353	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8073:0.0:0.1927	7.662	0.27575	950	0.11238	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1021.63	35	chr12	12126883	.	C	T	1021.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.588;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.947;SOR=0.726	GT:AD:DP:GQ:PL	0/1:55,44:99:99:1032,0,1441	6	0	1	0
chr12	12787400	12787400	T	A	exonic	APOLD1	.	nonsynonymous SNV	APOLD1:NM_001130415:exon2:c.T588A:p.N196K,APOLD1:NM_030817:exon2:c.T495A:p.N165K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0111226423567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.46129	D	0.257	0.23231	T	0.954	0.54400	P	0.541	0.48869	P	0.000487	0.43931	U	0.150870	0.76788	0.29469	N	0.895	0.22405	L	4.95	0.01376	T	-0.82	0.23372	N	0.295	0.33360	-0.9094	0.46928	T	0.005	0.01833	T	10	0.194956	0.35328	T	0.011123	0.28415	T	0.101	0.28911	0.569	0.69167	0.440182696023	0.43640	0.43167884085787706	0.43084	.	.	0.593904137611	0.52045	T	0.003669	0.03081	T	-0.207062	0.19794	T	-0.535207	0.18769	T	0.902645885944366	0.55566	D	0.825917	0.48908	T	0.15585002	0.35202	0.22038282	0.46811	0.15585002	0.35201	0.22038282	0.46810	-3.353	0.14949	T	.	.	0.619	0.69641	P	.;.	.;.	3.881869	0.56424	23.7	0.99436417010890099	0.64522	0.24796	0.22504	N	ALL	0.222044	0.34659	N	-0.213851494408575	0.32564	1.837883	-0.208462068642273	0.31230	1.765538	0.999999926305372	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.372554	0.06265	0	.	.	5.35	2.04	0.25787	0.495000	0.22191	1.664000	0.27916	-0.356000	0.05535	0.949000	0.33028	1.000000	0.68203	0.992000	0.67800	0.0:0.6545:0.0:0.3455	9.197	0.36399	736	0.53558	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1418.49	36	chr12	12787400	.	T	A	1418.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.17;DP=302;ExcessHet=0;FS=2.339;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.229;SOR=0.673	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1429,0,1616	6	0	1	0
chr12	26936607	26936607	A	G	exonic	INTS13	.	nonsynonymous SNV	INTS13:NM_018164:exon2:c.T197C:p.M66T	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	.	0.0048	0.00638978	0.0074	0.0015	0.0037	0.0032	0.0111	0.0080	0.0077	0.0118	0.0069663	1077	154602	rs2306852	0.0066	0.0066	0.0064	0.0068	0.0116	0.0065	0.0064	0.0110	0.0107	0.0010	0.0033	0.0082	0.0059	0.0129	0.0033	0.0062	0.0058	0.0116	0.0051	0.0051	0.0045	0.0058	0.0166	0.0048	0.0047	0.0136	0.0126	0.0009	0	0.0023	0.0086	0.0039	0.0135	0	0.0062	0.0052	0.0166	0.014	0.54683	D	0.019	0.59159	D	0.369	0.34063	B	0.171	0.35348	B	0.000000	0.84330	D	0.053007	0.999999	0.81001	D	.	.	.	0.95	0.43279	T	-1.24	0.37955	N	0.635	0.64818	-1.0319	0.19841	T	0.063	0.26065	T	10	0.009756386	0.00219	T	.	.	.	0.258	0.56959	.	.	0.043077524339	0.03247	0.7537742756139795	0.75324	0.944164394163	0.72342	0.850435853004	0.89680	D	0.048665	0.28085	T	-0.278995	0.10773	T	-0.163145	0.58067	T	0.0220620341904398	0.00916	T	0.962604	0.86052	D	0.5809308	0.71659	0.33843145	0.59621	0.5809308	0.71660	0.33843145	0.59620	-2.34	0.04779	T	.	.	0.59	0.68466	P	.;.;.	.;.;.	3.894487	0.56683	23.8	0.98439092490391211	0.41486	0.93029	0.57147	D	AEFBCI	0.927638	0.91061	D	0.224913191330774	0.52410	3.415227	0.382767712630281	0.60504	4.238553	0.999999999994909	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.657601	0.63696	0	.	.	5.27	5.27	0.73797	8.865000	0.91904	11.156000	0.87498	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.502	0.75439	832	0.38914	.;.;.	.	.	.	.	rs2306852	Uncertain significance	0	0	0	0	0	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	0.005051	0.000000	0.002924	0.000000	0.017241	0.027439	0.007576	0.07143	535.53	34	chr12	26936607	.	A	G	535.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.26;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-2.322;SOR=0.637	GT:AD:DP:GQ:PL	0/1:20,24:44:99:546,0,443	6	0	1	0
chr12	31982930	31982930	G	C	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.G1975C:p.G659R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00552625962311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.91255	D	0.053	0.92824	T	0.612	0.39723	P	0.203	0.37000	B	0.406905	0.13049	N	0.633652	1	0.08975	N	1.59	0.40313	L	3.79	0.09450	T	-1.98	0.65283	N	0.101	0.08366	-1.0526	0.13682	T	0.029	0.12453	T	9	0.11295846	0.21205	T	0.005526	0.14227	T	0.054	0.15330	0.11	0.02049	0.270889551736	0.26708	0.13982753101354015	0.13905	0.0117517464384	0.01108	0.23748268187	0.02568	T	0.048737	0.28105	T	-0.233546	0.16181	T	-0.573249	0.15152	T	0.452127724885941	0.30875	T	0.492651	0.21138	T	0.08083601	0.18542	0.082108565	0.18713	0.08083601	0.18542	0.082108565	0.18712	-3.796	0.20745	T	.	.	0.160	0.41541	B	.;.	.;.	2.838999	0.37451	20.5	0.99864726819372762	0.94276	0.34045	0.24974	N	AEFGBCI	0.062453	0.12006	N	-0.3139044885324	0.28618	1.580056	-0.371815587989421	0.25840	1.423587	0.994313354200577	0.33582	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.5	3.66	0.41111	0.790000	0.26562	4.969000	0.46388	-0.113000	0.14837	0.001000	0.13787	0.976000	0.30059	0.067000	0.16453	0.1641:0.0:0.8359:0.0	9.574	0.38610	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1041.45	41	chr12	31982930	.	G	C	1041.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.064;DP=439;ExcessHet=0;FS=0.697;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-0.973;SOR=0.621	GT:AD:DP:GQ:PL	0/1:70,47:117:99:1052,0,1748	6	0	1	0
chr12	32640381	32640381	G	A	exonic	FGD4	.	nonsynonymous SNV	FGD4:NM_001370297:exon15:c.G1597A:p.V533M,FGD4:NM_001330373:exon16:c.G1870A:p.V624M,FGD4:NM_001330374:exon16:c.G1870A:p.V624M,FGD4:NM_001384130:exon16:c.G1870A:p.V624M,FGD4:NM_001304480:exon17:c.G2485A:p.V829M,FGD4:NM_001304481:exon17:c.G2404A:p.V802M,FGD4:NM_001370298:exon17:c.G2560A:p.V854M,FGD4:NM_001384126:exon17:c.G2560A:p.V854M,FGD4:NM_001384127:exon17:c.G2149A:p.V717M,FGD4:NM_001384128:exon17:c.G2149A:p.V717M,FGD4:NM_001385118:exon17:c.G2149A:p.V717M,FGD4:NM_139241:exon17:c.G2149A:p.V717M,FGD4:NM_001304484:exon18:c.G1117A:p.V373M	Charcot-Marie-Tooth disease, type 4H, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	186165	FGD4-related_disorder|Charcot-Marie-Tooth_disease_type_4|not_provided|not_specified|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_4H	.|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311,Orphanet:99954	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.125	0.00826232211943	0.0012	0.00139776	0.0013	9.61e-05	0.0006	0.0006	0.0006	0.0019	0.0011	0.0010	0.0013454	208	154602	rs61753359	0.0015	0.0015	0.0014	0.0016	0.0201	0.0015	0.0015	0.0171	0.0160	0.0008	0.0007	0.0003	0.0002	0.0009	0.0201	0.0016	0.0020	0.0009	0.0013	0.0013	0.0012	0.0013	0.0021	0.0011	0.0011	0.0018	0.0017	0.0003	0	0.0006	0.0003	0.0008	0.0004	0.0272	0.0021	0.0014	0.0012	0.03	0.45393	D	0.058	0.50226	T	0.948	0.77913	P	0.75	0.65636	P	0.006600	0.31929	N	0.140778	0.870874	0.36596	D	1.915	0.51223	L	2.52	0.14160	T	-0.83	0.23590	N	0.318	0.35832	-1.0847	0.06462	T	0.084	0.32843	T	10	0.016922116	0.00358	T	0.008262	0.21878	T	0.125	0.34456	.	.	0.505335117028	0.50172	0.2463700723692649	0.24551	0.937855584435	0.72103	0.680934786797	0.64402	T	0.284299	0.65707	T	-0.45189	0.01101	T	-0.42867	0.30086	T	0.0404050718974868	0.03763	T	0.885811	0.62583	D	0.113321856	0.26766	0.10239986	0.24541	0.113321856	0.26766	0.10239986	0.24541	-6.461	0.49984	T	.	.	0.112	0.27791	B	.;.;.;.;.	.;.;.;.;.	4.315470	0.66008	24.9	0.99835817012143424	0.91714	0.90895	0.52464	D	AEFDBI	0.319492	0.42288	N	0.447156447640376	0.64040	4.650083	0.425038762448266	0.63131	4.540651	0.19182892424682	0.18009	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.31	4.39	0.52211	2.675000	0.46541	8.568000	0.77594	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.1378:0.8622:0.0	15.656	0.76891	906	0.23090	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|FGD1-4, C-terminal PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|FGD1-4, C-terminal PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|FGD1-4, C-terminal PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|FGD1-4, C-terminal PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|FGD1-4, C-terminal PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.020380	0.017544	0.000000	0.017241	0.003049	0.000000	0.07143	1554.44	33	chr12	32640381	.	G	A	1554.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.53;DP=351;ExcessHet=0;FS=2.962;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=0.595;SOR=0.973	GT:AD:DP:GQ:PL	0/1:101,61:162:99:1565,0,2500	6	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	398.42	26	chr12	39764776	.	G	C	398.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.419;DP=205;ExcessHet=6.1542;FS=279.101;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=0.832;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,13:43:99:0|1:39764776_G_C:111,0,711:39764776	1	0	5	1
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	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	.	.	.	.	.	.	.	.	0.2	159.69	18	chr12	39764778	.	G	A	159.69	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.413;DP=173;ExcessHet=0.4139;FS=71.787;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.96;ReadPosRankSum=0.833;SOR=5.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,13:43:99:0|1:39764776_G_C:111,0,711:39764776	3	0	2	2
chr12	40483176	40483178	AAC	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	923	56	0	0	56	0.0294427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415489964	0	4.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0049	0.0006	0.0007	0.0014	0.0005	0.0005	0.0009	0.0008	0.0005	0	0.0014	0.0006	0	0.0003	0	0.0007	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3738.2	674	chr12	40483175	.	GAAC	G	3738.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=11.31;DP=4231;ExcessHet=0.3476;FS=5.913;MLEAC=2;MLEAF=0.143;MQ=59.55;MQRankSum=-13.76;QD=2.14;ReadPosRankSum=-8.128;SOR=1.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:823,134:957:99:0|1:40483128_A_G:3149,0,34154:40483128	5	0	2	0
chr12	40483177	40483177	A	0	exonic	MUC19	.	.	.	.	542	838	86	0	56	142	0.0488082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	51.83	674	chr12	40483177	.	A	*	51.83	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.66;DP=4236;ExcessHet=1.1394;FS=5.913;MLEAC=2;MLEAF=0.143;MQ=59.34;MQRankSum=-5.488;QD=0.03;ReadPosRankSum=-0.838;SOR=1.334	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:823,134:957:99:0|1:40483128_A_G:3149,0,34154:40483128	5	0	2	0
chr12	40483182	40483208	AGCTGGGGTTACAGGGACAACTGAACT	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	961	18	0	0	18	0.00927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1244476502	0	4.106e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0043	0.0002	0.0003	0.0005	0.0002	0.0001	0.0003	0.0002	0.0002	0	0.0005	0.0003	0	0.0002	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2489.4	674	chr12	40483181	.	CAGCTGGGGTTACAGGGACAACTGAACT	C	2489.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=11.22;DP=4215;ExcessHet=0;FS=4.265;MLEAC=1;MLEAF=0.071;MQ=59.41;MQRankSum=-17.16;QD=2.36;ReadPosRankSum=-11.5;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:927,126:1053:99:0|1:40483128_A_G:2500,0,38545:40483128	6	0	1	0
chr12	40483185	40483185	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	57.63	674	chr12	40483185	.	T	*	57.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.02;DP=4216;ExcessHet=0.3476;FS=4.271;MLEAC=1;MLEAF=0.071;MQ=59.32;MQRankSum=-5.377;QD=0.05;ReadPosRankSum=-2.06;SOR=1.176	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:927,126:1053:99:0|1:40483128_A_G:2500,0,38545:40483128	6	0	1	0
chr12	40483187	40483187	G	0	exonic	MUC19	.	.	.	.	541	952	11	0	18	29	0.00574413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	60.63	674	chr12	40483187	.	G	*	60.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=4215;ExcessHet=0.3476;FS=4.271;MLEAC=1;MLEAF=0.071;MQ=59.3;MQRankSum=-5.321;QD=0.05;ReadPosRankSum=-1.61;SOR=1.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:927,126:1053:99:0|1:40483128_A_G:2500,0,38545:40483128	6	0	1	0
chr12	40485670	40485670	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	629	889	1	2	1	6	0.00280426	.	.	.	3887255	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs374677579	4.265e-05	8.203e-05	4.195e-05	4.346e-05	4.662e-05	3.069e-05	2.708e-05	3.355e-05	2.96e-05	0	0	0	0	0	0	4.662e-05	0	0	0.0002	0.0076	0.0001	0.0003	0.0009	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0002	0	0	0.0001	0	0.0001	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1667	1645.77	311	chr12	40485670	.	A	G	1645.77	.	AC=2;AF=0.167;AN=12;DP=2930;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=37.81;QD=29.64;SOR=3.442	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,37:37:99:1|1:40485585_A_G:1665,111,0:40485585	5	1	0	1
chr12	40485677	40485678	CT	-	exonic	MUC19	.	unknown	UNKNOWN	.	8	217	0	1	0	2	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1373463433	6.268e-06	1.753e-05	9.318e-06	2.715e-06	6.853e-06	1.84e-06	1.33e-06	2.01e-06	1.46e-06	0	0	0	0	0	0	6.853e-06	0	0	4.163e-05	0.0005	4.07e-05	4.26e-05	0.0002	1.794e-05	1.181e-05	8.45e-06	3.16e-06	5.098e-05	0	0	0	0	9.662e-05	0	3.094e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	699.18	311	chr12	40485676	.	GCT	G	699.18	.	AC=2;AF=0.143;AN=14;DP=2904;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=38.88;QD=33.25;SOR=3.258	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,16:16:48:1|1:40485585_A_G:720,48,0:40485585	6	1	0	0
chr12	40486404	40486404	-	ATCA	exonic	MUC19	.	unknown	UNKNOWN	.	549	963	8	0	2	10	0.0041365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303231972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	0.0002	6.792e-05	0.0002	7.163e-05	5.806e-05	7.974e-05	5.64e-05	0.0002	0	6.592e-05	0.0003	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1749.4	615	chr12	40486404	.	T	TATCA	1749.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=7.57;DP=5305;ExcessHet=0;FS=57.712;MLEAC=1;MLEAF=0.071;MQ=57.82;MQRankSum=-28.67;QD=1.78;ReadPosRankSum=-6.915;SOR=7.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:880,105:985:99:0|1:40486404_T_TATCA:1760,0,36460:40486404	6	0	1	0
chr12	40486405	40486405	-	CTAGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN	.	561	947	5	0	9	14	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215974695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0062	0.0010	0.0005	0.0033	0.0005	0.0005	0.0006	0.0003	0.0007	0	0.0013	0.0017	0	0	0	0.0008	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1903.8	617	chr12	40486405	.	G	GCTAGGGTGACAGAGAGTACTGGACTA	1903.8	.	AC=1;AF=0.25;AN=4;BaseQRankSum=9.52;DP=5377;ExcessHet=0;FS=57.712;MLEAC=2;MLEAF=0.5;MQ=57.76;MQRankSum=-28.5;QD=1.92;ReadPosRankSum=-12.18;SOR=7.978	GT:AD:DP:GQ:PL	0/1:886,108:994:99:1909,0,36717	1	0	1	5
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	719.4	759	chr12	40487422	.	A	ACC	719.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=5804;ExcessHet=0;FS=21.496;MLEAC=1;MLEAF=0.071;MQ=55.44;MQRankSum=-27.39;QD=0.73;ReadPosRankSum=9.18;SOR=3.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:908,83:991:99:0|1:40487405_G_C:730,0,37664:40487405	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	15468.5	661	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	15468.5	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.817;DP=6041;ExcessHet=4.7409;FS=9.147;MLEAC=3;MLEAF=0.25;MQ=55.93;MQRankSum=-7.108;QD=5.66;ReadPosRankSum=7.39;SOR=3.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:903,83:986:99:.:.:5347,0,37251:.	2	0	4	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	338.29	732	chr12	40487442	.	G	GGCT	338.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.655;DP=5997;ExcessHet=0.3476;FS=6;MLEAC=2;MLEAF=0.143;MQ=56.85;MQRankSum=-25.75;QD=0.18;ReadPosRankSum=1.29;SOR=1.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:912,74:986:99:0|1:40487405_G_C:342,0,37440:40487405	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	12379.8	639	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	12379.8	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.59;DP=6110;ExcessHet=4.7409;FS=5.959;MLEAC=4;MLEAF=0.333;MQ=56.39;MQRankSum=-20.6;QD=3.45;ReadPosRankSum=-1.927;SOR=1.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:906,73:979:99:.:.:4787,0,36855:.	3	0	3	1
chr12	40488212	40488217	GGGGTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	573	874	75	0	0	75	0.041141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328022944	0	4.385e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0005	0.0005	0.0004	0.0003	0.0003	0.0003	0.0005	0	0.0005	0.0013	0	0.0004	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3487.68	340	chr12	40488211	.	TGGGGTG	T	3487.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.455;DP=4138;ExcessHet=1.1394;FS=5.453;MLEAC=3;MLEAF=0.214;MQ=57.73;MQRankSum=-15.92;QD=1.88;ReadPosRankSum=-4.326;SOR=1.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:973,148:1121:99:0|1:40488211_TGGGGTG_T:2276,0,39170:40488211	4	0	3	0
chr12	40488219	40488242	CAGAGACAACTGGACAATCAGCTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	562	903	55	1	1	58	0.0305958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486154631	0	3.663e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0040	0.0004	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0004	0.0013	0	0.0005	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3069.68	377	chr12	40488218	.	ACAGAGACAACTGGACAATCAGCTG	A	3069.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.03;DP=4157;ExcessHet=1.1394;FS=5.724;MLEAC=3;MLEAF=0.214;MQ=58.01;MQRankSum=-15.99;QD=1.54;ReadPosRankSum=-4.294;SOR=1.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1054,148:1202:99:0|1:40488211_TGGGGTG_T:2028,0,42510:40488211	4	0	3	0
chr12	40488222	40488222	A	0	exonic	MUC19	.	.	.	.	668	663	143	10	38	201	0.109469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	4245.33	377	chr12	40488222	.	A	*	4245.33	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.17;DP=4021;ExcessHet=3.1439;FS=4.948;MLEAC=2;MLEAF=0.167;MQ=58.27;MQRankSum=-14.66;QD=1.43;ReadPosRankSum=-3.365;SOR=1.16	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1054,148:1202:99:0|1:40488211_TGGGGTG_T:2028,0,42510:40488211	4	0	2	1
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	31631.5	377	chr12	40488224	.	A	*	31631.5	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.28;DP=4035;ExcessHet=1.383;FS=1.773;MLEAC=2;MLEAF=0.2;MQ=59.2;MQRankSum=15.9;QD=12.2;ReadPosRankSum=4.4;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1054,148:1202:99:0|1:40488211_TGGGGTG_T:2028,0,42510:40488211	3	0	2	2
chr12	40488225	40488225	C	0	exonic	MUC19	.	.	.	.	637	844	2	0	39	41	0.00118343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	619.01	377	chr12	40488225	.	C	*	619.01	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.776;DP=3965;ExcessHet=1.1394;FS=6.239;MLEAC=2;MLEAF=0.143;MQ=55.75;MQRankSum=-14.7;QD=0.32;ReadPosRankSum=-6.958;SOR=1.287	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1054,148:1202:99:0|1:40488211_TGGGGTG_T:2028,0,42510:40488211	5	0	2	0
chr12	40488231	40488231	G	0	exonic	MUC19	.	.	.	.	640	765	79	12	26	129	0.0630741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3467.54	377	chr12	40488231	.	G	*	3467.54	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.904;DP=3950;ExcessHet=1.383;FS=7.163;MLEAC=2;MLEAF=0.2;MQ=59.29;MQRankSum=-4.477;QD=1.34;ReadPosRankSum=-1.578;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1054,148:1202:99:0|1:40488211_TGGGGTG_T:2028,0,42510:40488211	3	0	2	2
chr12	40488234	40488234	A	0	exonic	MUC19	.	.	.	.	655	769	59	13	26	111	0.0523722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3274.33	377	chr12	40488234	.	A	*	3274.33	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.29;DP=3914;ExcessHet=3.1439;FS=5.194;MLEAC=2;MLEAF=0.167;MQ=58.36;MQRankSum=-14.63;QD=1.12;ReadPosRankSum=-7.88;SOR=1.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1054,148:1202:99:0|1:40488211_TGGGGTG_T:2028,0,42510:40488211	4	0	2	1
chr12	46779834	46779834	T	C	exonic	SLC38A4	.	nonsynonymous SNV	SLC38A4:NM_001143824:exon8:c.A604G:p.I202V,SLC38A4:NM_018018:exon9:c.A604G:p.I202V	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0046	0.00239617	0.0057	0.0011	0.0038	0	0.0188	0.0073	0.0112	0.0010	0.0055562	859	154602	rs141997108	0.0064	0.0064	0.0066	0.0062	0.0082	0.0063	0.0062	0.0064	0.0064	0.0008	0.0035	0.0113	0	0.0188	0.0082	0.0065	0.0072	0.0010	0.0056	0.0056	0.0055	0.0058	0.0069	0.0053	0.0052	0.0064	0.0062	0.0014	0	0.0025	0.0130	0	0.0212	0.0136	0.0069	0.0057	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.008691	0.30716	N	0.335569	0.99318	0.23759	N	-0.87	0.01450	N	4.34	0.02341	T	0.29	0.04161	N	0.183	0.19861	-0.9144	0.46298	T	0.002	0.00738	T	10	0.0037851036	0.00071	T	.	.	.	0.050	0.13987	.	.	0.043077524339	0.03247	0.27362071866456883	0.27275	0.217197326532	0.24235	0.308583498001	0.11693	T	0.012043	0.10654	T	-0.643239	0.00080	T	-0.692319	0.06256	T	0.00171204791103375	0.00017	T	0.80172	0.44782	T	0.023701595	0.01133	0.02507146	0.00541	0.023701595	0.01133	0.02507146	0.00540	-1.416	0.01601	T	.	.	0.061	0.01645	B	.;.;.	.;.;.	-0.134914	0.03438	0.631	0.431251597604218	0.03225	0.20705	0.21139	N	AEFI	0.238271	0.36042	N	-1.28797420044883	0.03819	0.1712974	-1.08981874389527	0.07900	0.3861526	0.00821560208285352	0.11633	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.4	-1.11	0.09336	0.120000	0.15476	-2.719000	0.03433	-1.002000	0.01800	0.929000	0.32243	0.000000	0.08366	0.889000	0.42754	0.0:0.6251:0.0:0.3749	10.520	0.44099	552	0.72024	Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.012228	0.008772	0.050000	0.000000	0.006098	0.003788	0.07143	1099.49	51	chr12	46779834	.	T	C	1099.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.684;DP=274;ExcessHet=0;FS=8.614;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.015;SOR=0.2	GT:AD:DP:GQ:PL	0/1:34,43:77:99:1110,0,975	6	0	1	0
chr12	47670209	47670209	G	A	exonic	RPAP3	.	nonsynonymous SNV	RPAP3:NM_001146075:exon12:c.C1322T:p.T441I,RPAP3:NM_001146076:exon12:c.C947T:p.T316I,RPAP3:NM_024604:exon13:c.C1424T:p.T475I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00433569654235	.	.	8.241e-06	0	0	0	0	0	0	6.057e-05	1.29e-05	2	154602	rs763469006	4.105e-06	4.104e-06	2.723e-06	5.501e-06	4.638e-05	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	1.799e-06	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.24372	T	0.227	0.25362	T	0.003	0.12996	B	0.002	0.11217	B	0.063420	0.02166	N	1.727610	1	0.08975	N	0.345	0.11182	N	2.88	0.14783	T	-0.45	0.14782	N	0.157	0.17966	-1.0133	0.25880	T	0.029	0.12234	T	10	0.0736008	0.11142	T	0.004336	0.10529	T	0.013	0.01715	0.294	0.25720	0.0551355673512	0.04727	0.30148804565417414	0.30061	0.0692781547984	0.07753	0.307685732841	0.11557	T	0.017039	0.13973	T	-0.517541	0.00455	T	-0.79966	0.01911	T	0.0286620857394042	0.01786	T	0.39556	0.09932	T	0.027879437	0.02044	0.030327728	0.01475	0.027879437	0.02044	0.030327728	0.01475	-3.903	0.22662	T	.	.	0.079	0.10449	B	.;.;.	.;.;.	1.141469	0.15289	11.74	0.95939731998602562	0.28239	0.05584	0.11486	N	AEFBI	0.039074	0.05625	N	-0.930649635125279	0.10130	0.4826563	-0.908468104572287	0.11894	0.6087357	0.00218967296552731	0.09217	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.41	1.41	0.21461	0.111000	0.15292	0.708000	0.20910	-0.109000	0.15193	0.000000	0.06391	0.000000	0.08366	0.610000	0.31640	0.2438:0.1401:0.6161:0.0	6.139	0.19468	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	.	.	.	.	.	.	.	.	0.07143	1598.45	33	chr12	47670209	.	G	A	1598.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.632;DP=310;ExcessHet=0;FS=0.644;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.933;SOR=0.608	GT:AD:DP:GQ:PL	0/1:62,72:134:99:1609,0,1383	6	0	1	0
chr12	48088939	48088939	A	C	exonic	SENP1	.	nonsynonymous SNV	SENP1:NM_001267594:exon5:c.T242G:p.F81C,SENP1:NM_001267595:exon5:c.T242G:p.F81C	.	0	222	4	0	0	4	0.00892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0120156971753	.	.	0.0007	0.0004	0.0073	0	0	0.0003	0.0038	0.0003	0.0004269	66	154602	rs201367781	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0013	0.0012	6.118e-05	0.0016	0	0	0	0.0016	0.0001	0.0003	0.0004	0.0001	0.0001	0.0002	6.714e-05	0.0002	8.658e-05	7.251e-05	0.0001	7.895e-05	9.623e-05	0	0.0002	0	0	0	0.0034	0.0002	0	0	0.001	0.78490	D	0.056	0.46632	T	0.994	0.70673	D	0.753	0.62107	P	0.037918	0.24345	N	0.387379	0.966276	0.25901	N	0.895	0.22405	L	2.27	0.17431	T	-1.33	0.90100	N	0.463	0.49965	-1.0078	0.27603	T	0.075	0.30242	T	10	0.009805471	0.00220	T	0.012016	0.30212	T	0.144	0.38394	0.315	0.29096	0.332801854358	0.32887	0.41824730370719276	0.41740	.	.	0.67249161005	0.63193	T	0.119678	0.44138	T	-0.361943	0.04021	T	-0.322761	0.42272	T	0.0319114494810315	0.02292	T	0.824018	0.48536	T	0.115217485	0.27190	0.10600615	0.25493	0.115217485	0.27190	0.10600615	0.25493	-4.472	0.30626	T	.	.	0.131	0.52639	B	.;.;.;.	.;.;.;.	3.524586	0.49421	22.8	0.99320692671081223	0.59355	0.96288	0.68409	D	AEFBI	0.423586	0.48911	N	0.21655046500252	0.52002	3.377187	0.326526214759916	0.57104	3.875036	0.243567071622764	0.18599	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	3.494000	0.53036	8.088000	0.76508	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8525:0.0:0.0:0.1475	10.325	0.42972	497	0.76227	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.07143	786.64	29	chr12	48088939	.	A	C	786.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.574;DP=184;ExcessHet=0;FS=1.587;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.7;ReadPosRankSum=1.34;SOR=1.329	GT:AD:DP:GQ:PL	0/1:12,26:38:99:797,0,320	6	0	1	0
chr12	48135015	48135015	A	G	exonic	PFKM	.	nonsynonymous SNV	PFKM:NM_001166688:exon8:c.A820G:p.I274V,PFKM:NM_001354747:exon8:c.A670G:p.I224V,PFKM:NM_001354748:exon8:c.A670G:p.I224V,PFKM:NM_000289:exon9:c.A820G:p.I274V,PFKM:NM_001166687:exon9:c.A820G:p.I274V,PFKM:NM_001354740:exon9:c.A964G:p.I322V,PFKM:NM_001354742:exon9:c.A820G:p.I274V,PFKM:NM_001354743:exon9:c.A820G:p.I274V,PFKM:NM_001354744:exon9:c.A820G:p.I274V,PFKM:NM_001354746:exon9:c.A820G:p.I274V,PFKM:NM_001363619:exon9:c.A820G:p.I274V,PFKM:NM_001354741:exon10:c.A844G:p.I282V,PFKM:NM_001354745:exon10:c.A733G:p.I245V,PFKM:NM_001166686:exon11:c.A1033G:p.I345V,PFKM:NM_001354737:exon11:c.A1033G:p.I345V,PFKM:NM_001354738:exon11:c.A1033G:p.I345V,PFKM:NM_001354739:exon11:c.A1033G:p.I345V,PFKM:NM_001354735:exon12:c.A1129G:p.I377V,PFKM:NM_001354736:exon12:c.A1129G:p.I377V	Glycogen storage disease VII, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	331196	Glycogen_storage_disease,_type_VII|not_provided	MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.409	0.0329717188521	0.0003	0.000399361	0.0002	9.619e-05	0.0004	0	0	0.0003	0	0.0002	0.0002199	34	154602	rs142868881	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	2.989e-05	0.0003	0	7.557e-05	9.36e-05	0.0003	0.0002	0.0002	6.958e-05	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0001	0.0005	0.0004	7.22e-05	0	0.0008	0	0	0	0	0.0003	0	0.0002	0.019	0.51248	D	0.01	0.65728	D	0.95	0.90584	P	0.895	0.88582	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	-1.08	0.77078	T	-0.86	0.24676	N	0.358	0.41360	0.321	0.87892	D	0.615	0.86401	D	10	0.15041372	0.28449	T	0.032972	0.54648	D	0.409	0.72099	.	.	0.812897146669	0.81114	0.7649577740147355	0.76444	0.725319235954	0.62442	0.44877833128	0.31776	T	0.508795	0.82592	D	-0.0899275	0.38089	T	-0.0693916	0.65670	T	0.060000501536647	0.07169	T	0.844516	0.52185	T	0.49064687	0.66542	0.35216594	0.60799	0.5523233	0.70085	0.40415025	0.64850	-7.663	0.58750	D	0.3405184363256736	0.43827	0.102	0.33573	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.995209	0.58824	24.0	0.99918708999777328	0.98586	0.91669	0.54012	D	AEFBI	0.636009	0.61531	D	0.663563693087376	0.77250	6.63857	0.618334723197854	0.76273	6.460447	0.999999988136993	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.64	4.64	0.57399	6.312000	0.72804	9.421000	0.80755	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	13.998	0.63926	577	0.69927	Phosphofructokinase domain;Phosphofructokinase domain;.;Phosphofructokinase domain;Phosphofructokinase domain;Phosphofructokinase domain;Phosphofructokinase domain;Phosphofructokinase domain;Phosphofructokinase domain;Phosphofructokinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1534.53	36	chr12	48135015	.	A	G	1534.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.426;DP=307;ExcessHet=0;FS=6.598;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.825;SOR=1.344	GT:AD:DP:GQ:PL	0/1:69,55:124:99:1545,0,1953	6	0	1	0
chr12	48979627	48979627	T	A	exonic	WNT1	.	nonsynonymous SNV	WNT1:NM_005430:exon2:c.T264A:p.S88R	Osteogenesis imperfecta, type XV, Autosomal recessive	416	1091	15	0	0	15	0.00682749	.	.	.	215450	Osteogenesis_imperfecta|not_specified|not_provided|Osteogenesis_imperfecta_type_15|OSTEOPOROSIS,_EARLY-ONSET,_SUSCEPTIBILITY_TO	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014086,MedGen:C3808844,OMIM:615220,Orphanet:666|MedGen:C3714945,OMIM:615221,Orphanet:85193	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.316	.	0.0038	0.00279553	0.0030	0.0013	0.0017	0	0.0018	0.0044	0	0.0013	0.0031177	482	154602	rs61758378	0.0047	0.0047	0.0048	0.0046	0.0170	0.0046	0.0045	0.0143	0.0133	0.0015	0.0021	0.0052	0	0.0022	0.0170	0.0054	0.0046	0.0012	0.0037	0.0037	0.0039	0.0034	0.0061	0.0034	0.0033	0.0056	0.0054	0.0014	0	0.0024	0.0043	0	0.0016	0.0068	0.0061	0.0052	0.0006	0.177	0.22224	T	0.368	0.30926	T	0.174	0.28827	B	0.134	0.33146	B	0.000065	0.52346	D	0.163297	0.998096	0.44502	D	0.49	0.13296	N	-0.98	0.75789	T	-0.32	0.12283	N	0.461	0.49783	-1.0170	0.24690	T	0.149	0.47540	T	10	0.008583903	0.00194	T	.	.	.	0.316	0.63799	0.553	0.66995	0.376570364461	0.37271	0.749888599216709	0.74935	.	.	0.636694550514	0.58095	T	0.480335	0.80937	T	-0.378033	0.03206	T	-0.313876	0.43241	T	0.00763754133154457	0.00089	T	0.658334	0.26756	T	0.17814307	0.38818	0.17639557	0.40171	0.20008159	0.41971	0.15608479	0.36558	-7.852	0.60057	D	0.07982010861788254	0.03967	0.546	0.66601	A	.;.	.;.	1.308768	0.17114	12.97	0.98124746947429931	0.38465	0.41229	0.26611	N	AEFDBHCIJ	0.377588	0.46130	N	-0.960380011496076	0.09461	0.44787	-0.880464813226318	0.12557	0.6466163	0.989113297446559	0.31727	0.59774	0.34471	0	0.606814	0.50340	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	4.84	0.813	0.17891	-1.064000	0.03572	0.219000	0.16052	-1.002000	0.01800	0.006000	0.17386	0.975000	0.29991	0.980000	0.58198	0.0:0.5711:0.0:0.4289	8.002	0.29462	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	1	0	0	1	0	1	0	0.013092	0.005051	0.013587	0.038012	0.000000	0.000000	0.009146	0.000000	0.07143	1246.63	34	chr12	48979627	.	T	A	1246.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.552;DP=309;ExcessHet=0;FS=1.45;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-0.202;SOR=0.521	GT:AD:DP:GQ:PL	0/1:73,54:127:99:1257,0,1828	6	0	1	0
chr12	50106895	50106895	T	C	exonic	GPD1	.	nonsynonymous SNV	GPD1:NM_001257199:exon5:c.T521C:p.V174A,GPD1:NM_005276:exon5:c.T590C:p.V197A	Hypertriglyceridemia, transient infantile, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	1172438	not_provided|GPD1-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.510	0.0850947028327	0.0006	0.000798722	0.0008	9.714e-05	0.0010	0	0	0.0010	0.0045	0.0006	0.000718	111	154602	rs2232207	0.0005	0.0005	0.0005	0.0006	0.0127	0.0005	0.0005	0.0103	0.0095	0.0003	0.0010	0.0022	0	0	0.0127	0.0004	0.0012	0.0008	0.0007	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0006	0.0006	0.0003	0	0.0005	0.0020	0	0	0.0204	0.0008	0.0019	0.0010	0.088	0.38633	T	0.099	0.38891	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.5	0.72771	M	-0.29	0.67712	T	-3.92	0.73151	D	0.874	0.87157	-0.0958	0.80195	T	0.414	0.76129	T	10	0.18603465	0.34051	T	0.085095	0.74463	D	0.510	0.78971	.	.	0.908146814434	0.90723	0.8654752949982805	0.86512	0.649933622793	0.58288	0.67496317625	0.63546	T	0.822804	0.95686	D	0.0257582	0.55156	T	0.195401	0.82875	D	0.107409723103046	0.13153	T	0.979882	0.93166	D	0.7080722	0.78501	0.49520743	0.70806	0.77507323	0.82355	0.6152071	0.77604	-10.567	0.77231	D	0.2996157578346551	0.39689	0.678	0.74790	P	.;.	.;.	4.780414	0.77470	26.7	0.9984831607081569	0.92750	0.98319	0.81588	D	AEFDBI	0.969091	0.99152	D	0.772460585595586	0.84357	8.26541	0.742637384613061	0.85605	8.631014	0.999999999999683	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.39	5.39	0.77615	8.017000	0.88732	7.861000	0.71444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:0.0:1.0	15.715	0.77425	225	0.91282	Glycerol-3-phosphate dehydrogenase, NAD-dependent, 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	0.016113	0.020202	0.025815	0.017647	0.050000	0.034483	0.003049	0.003788	0.07143	703.44	33	chr12	50106895	.	T	C	703.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.731;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1;SOR=0.818	GT:AD:DP:GQ:PL	0/1:28,32:60:99:714,0,563	6	0	1	0
chr12	51820852	51820852	C	T	exonic	FIGNL2	.	nonsynonymous SNV	FIGNL2:NM_001013690:exon2:c.G1562A:p.G521D,FIGNL2:NM_001384995:exon2:c.G1562A:p.G521D,FIGNL2:NM_001384996:exon3:c.G1562A:p.G521D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	.	0	0	0.0002	6.5e-06	1	154602	rs769847773	9.227e-06	1.231e-05	3.033e-06	1.56e-05	0.0001	4.92e-06	3.89e-06	6.61e-05	4.947e-05	0	0	0	0	0	0	2.882e-06	0	0.0001	1.318e-05	1.314e-05	0	2.7e-05	0.0004	2.19e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	0.062	0.23277	B	0.11	0.31460	B	.	.	.	.	.	.	.	0.205	0.09354	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23413134	0.40446	T	.	.	.	.	.	.	.	.	.	0.5856316386542251	0.58492	.	.	0.908296465874	0.97307	D	0.450397	0.79152	T	.	.	.	.	.	.	.	.	.	0.444256	0.12390	T	0.3203524	0.54670	0.5991631	0.76718	0.3203524	0.54670	0.5991631	0.76719	-5.549	0.42324	T	.	.	0.113	0.24192	B	.;.	.;.	3.103433	0.41837	21.4	0.91197183644844515	0.20452	0.24038	0.22268	N	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999999999973	0.74766	0.11394	0.02926	0	0.152684	0.03557	0	0.04985	0.00251	1	0.062806	0.01542	0	0.694862	0.42733	4.29	4.29	0.50359	2.018000	0.40610	4.339000	0.43051	0.522000	0.23927	0.009000	0.18154	1.000000	0.68203	0.046000	0.14843	0.0:1.0:0.0:0.0	16.887	0.85946	489	0.76795	ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	791.83	25	chr12	51820852	.	C	T	791.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.895;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.318;SOR=0.798	GT:AD:DP:GQ:PL	0/1:34,36:70:99:802,0,700	6	0	1	0
chr12	52172285	52172285	C	T	exonic	KRT80	.	nonsynonymous SNV	KRT80:NM_001081492:exon7:c.G1091A:p.R364H,KRT80:NM_182507:exon7:c.G1091A:p.R364H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	0.0307282462135	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.94e-05	3	154602	rs773346097	3.284e-05	3.284e-05	3.676e-05	2.888e-05	0.0019	2.544e-05	2.249e-05	0.0011	0.0008	0	0	0	0	0	0.0019	3.238e-05	1.656e-05	0	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.007	0.59928	D	0.08	0.45318	T	1.0	0.90584	D	0.992	0.86255	D	0.002489	0.36462	N	0.000000	0.983508	0.40023	D	1.625	0.41611	L	-2.57	0.89692	D	-4.28	0.77225	D	0.501	0.53357	0.791	0.94294	D	0.818	0.93858	D	10	0.6885842	0.71714	D	0.030728	0.52975	D	0.545	0.81077	.	.	0.78358005052	0.78158	0.3277651762101634	0.32689	0.5857386282	0.54202	0.392384529114	0.24005	T	0.470701	0.80371	T	0.10743	0.65084	D	-0.0679751	0.65770	T	0.963035464286804	0.66540	D	0.608739	0.23025	T	0.16074997	0.36037	0.16466592	0.38134	0.16074997	0.36036	0.16466592	0.38133	-5.067	0.37558	T	.	.	0.090	0.17016	B	.;.	.;.	4.455976	0.69304	25.4	0.9986948905830958	0.94726	0.77230	0.37949	D	ALL	0.469557	0.51589	N	0.658497382381632	0.76919	6.57615	0.555695034095159	0.71794	5.70955	0.999999999999994	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.440796	0.06475	0	0.691587	0.68394	0	.	.	4.58	4.58	0.56077	2.699000	0.46744	.	.	0.599000	0.40250	0.272000	0.25065	0.992000	0.31684	0.383000	0.26402	0.0:0.8667:0.0:0.1333	11.179	0.47843	345	0.85689	.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	3464.44	57	chr12	52172285	.	C	T	3464.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.683;DP=432;ExcessHet=0;FS=1.072;MLEAC=1;MLEAF=0.071;MQ=59.96;MQRankSum=0.922;QD=16.58;ReadPosRankSum=0.769;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,95:209:99:0|1:52172263_G_A:3475,0,4199:52172263	6	0	1	0
chr12	52569905	52569905	C	T	exonic	KRT74	.	nonsynonymous SNV	KRT74:NM_175053:exon6:c.G1088A:p.R363Q	Woolly hair, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2861197	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.411	0.0484772773817	7.7e-05	.	1.647e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs376472336	1.231e-05	1.231e-05	1.497e-05	9.625e-06	0.0001	7.7e-06	6.35e-06	3.982e-05	2.373e-05	0.0001	0	0	0.0001	0	0	7.194e-06	1.656e-05	1.159e-05	6.566e-05	6.562e-05	2.569e-05	0.0001	0.0002	3.514e-05	2.614e-05	6.268e-05	4.29e-05	0.0001	0	0.0001	0	0	0	0	1.47e-05	0	0.0002	0.001	0.78490	D	0.062	0.45318	T	0.998	0.73220	D	0.951	0.68939	D	.	.	.	.	0.550475	0.31339	N	2.655	0.77738	M	-0.88	0.74689	T	-3.62	0.69593	D	0.492	0.52563	0.177	0.85520	D	0.571	0.84458	D	9	0.4865961	0.60745	T	0.048477	0.63390	D	0.411	0.72252	.	.	0.479363622381	0.47567	0.16374624797837772	0.16294	0.112766155878	0.12728	0.243165761232	0.03082	T	0.665229	0.90000	D	-0.156411	0.27314	T	-0.225782	0.52180	T	0.88997358083725	0.54074	D	0.89841	0.64469	D	0.47257054	0.65448	0.47428733	0.69531	0.47257054	0.65449	0.47428733	0.69532	-9.151	0.68664	D	0.25129809117681795	0.34007	0.112	0.21803	B	.;.	.;.	4.115638	0.61477	24.3	0.99946469074006816	0.99901	0.54182	0.29553	D	AEFDBI	0.550445	0.56292	D	0.336665021487779	0.58039	3.974005	0.169322355334057	0.48174	3.037014	0.0903460379052258	0.16107	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.01	3.12	0.34986	2.099000	0.41392	.	.	0.599000	0.40250	0.037000	0.20830	0.000000	0.08366	0.973000	0.55318	0.0:0.7562:0.1569:0.0869	8.253	0.30900	851	0.35303	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	511.44	34	chr12	52569905	.	C	T	511.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.559;DP=256;ExcessHet=0;FS=2.068;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=0.147;SOR=0.595	GT:AD:DP:GQ:PL	0/1:45,25:70:99:522,0,1061	6	0	1	0
chr12	52648274	52648274	G	A	exonic	KRT2	.	nonsynonymous SNV	KRT2:NM_000423:exon5:c.C1021T:p.R341C	Ichthyosis bullosa of Siemens, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0770185600361	.	.	2.471e-05	0	8.637e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs778596676	1.642e-05	1.642e-05	6.806e-06	2.613e-05	0.0002	1.111e-05	9.33e-06	9.791e-05	7.838e-05	0	2.236e-05	0	5.038e-05	0	0	5.396e-06	1.656e-05	0.0002	3.284e-05	3.281e-05	1.285e-05	5.373e-05	0.0010	1.26e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.012	0.54683	D	0.013	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999982	0.54805	D	2.94	0.84723	M	-2.71	0.90566	D	-7.29	0.94457	D	0.799	0.79503	0.827	0.94745	D	0.836	0.94514	D	9	0.9576546	0.95141	D	0.077019	0.72671	D	0.771	0.92294	0.78	0.90465	0.957274204464	0.95682	0.3638657640322779	0.36300	0.546491555766	0.51644	0.490176051855	0.37463	T	0.841	0.96305	D	0.194468	0.73376	D	0.244218	0.85348	D	0.970104575157166	0.68829	D	0.917608	0.70392	D	0.39279476	0.60230	0.43730193	0.67154	0.39279476	0.60230	0.43730193	0.67154	-8.594	0.65049	D	0.5422075405560501	0.61172	0.750	0.75042	P	.	.	5.047865	0.84062	28.2	0.9993487325101722	0.99579	0.95996	0.67064	D	AEFBI	0.695135	0.65390	D	0.57447186466012	0.71583	5.673178	0.483559484622835	0.66900	5.012754	0.969817472845363	0.29158	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.52	4.52	0.54797	2.803000	0.47620	.	.	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.212000	0.22240	0.0:0.0:0.8368:0.1632	13.787	0.62601	793	0.45818	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod 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	.	.	.	.	.	.	.	.	0.07143	1403.44	34	chr12	52648274	.	G	A	1403.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.33;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.321;SOR=0.654	GT:AD:DP:GQ:PL	0/1:77,56:133:99:1414,0,1877	6	0	1	0
chr12	56923964	56923964	G	A	exonic	SDR9C7	.	nonsynonymous SNV	SDR9C7:NM_148897:exon4:c.C811T:p.R271W	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.0641725543304	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs770439255	3.899e-05	3.899e-05	2.178e-05	5.638e-05	0.0002	3.047e-05	2.783e-05	0.0002	0.0001	0	0	0	0	1.872e-05	0	3.148e-05	0	0.0002	2.63e-05	2.627e-05	2.571e-05	2.691e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	0	0	0	0.0006	0	0	0	0	0	0.0004	0.119	0.28026	T	0.189	0.28575	T	0.63	0.40197	P	0.099	0.30579	B	0.007790	0.31194	N	0.222920	0.939534	0.37264	D	2.85	0.82803	M	-2.04	0.85703	D	-1.87	0.43717	N	0.482	0.51672	0.146	0.84989	D	0.501	0.81164	D	10	0.27692813	0.45258	T	0.064173	0.69195	D	0.484	0.77335	0.551	0.66716	0.876282451974	0.87507	0.7293446394995188	0.72879	0.692741254437	0.60680	0.395825028419	0.24488	T	0.071782	0.34293	T	-0.109811	0.34798	T	-0.135833	0.60478	T	0.344744712293792	0.26811	T	0.510949	0.16331	T	0.12820964	0.29981	0.13163596	0.31604	0.12820964	0.29981	0.13163596	0.31603	-6.682	0.51675	T	0.2754275391228092	0.36982	0.241	0.47524	B	.	.	2.974924	0.39663	21.0	0.99595678186825054	0.73866	0.36206	0.25480	N	AEFBI	0.499924	0.53340	N	0.102715870260686	0.46588	2.896985	0.139027405255785	0.46563	2.900322	0.909380769255184	0.26310	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.52	5.52	0.82153	0.199000	0.17037	1.000000	0.23254	0.676000	0.76740	0.000000	0.06391	0.998000	0.33993	0.998000	0.85391	0.0:0.1495:0.8505:0.0	14.242	0.65508	427	0.81056	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2541.53	34	chr12	56923964	.	G	A	2541.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.17;DP=373;ExcessHet=0;FS=0.55;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-1.047;SOR=0.641	GT:AD:DP:GQ:PL	0/1:82,104:186:99:2552,0,1883	6	0	1	0
chr12	57272472	57272472	G	A	exonic	R3HDM2	.	nonsynonymous SNV	R3HDM2:NM_001351213:exon13:c.C1331T:p.P444L,R3HDM2:NM_001351214:exon13:c.C1331T:p.P444L,R3HDM2:NM_001351215:exon13:c.C1331T:p.P444L,R3HDM2:NM_001330122:exon14:c.C1385T:p.P462L,R3HDM2:NM_001351208:exon14:c.C1427T:p.P476L,R3HDM2:NM_001351212:exon14:c.C1331T:p.P444L,R3HDM2:NM_001330121:exon15:c.C1385T:p.P462L,R3HDM2:NM_001351205:exon15:c.C1481T:p.P494L,R3HDM2:NM_001351206:exon15:c.C1481T:p.P494L,R3HDM2:NM_001351204:exon16:c.C1481T:p.P494L,R3HDM2:NM_001351207:exon17:c.C1451T:p.P484L	.	418	1079	24	1	0	26	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0298082584246	.	0.000798722	0.0015	0	0	0	0	0.0010	0	0.0026	0.0002393	37	154602	rs143617893	0.0008	0.0008	0.0007	0.0009	0.0084	0.0008	0.0008	0.0065	0.0059	0.0003	0.0006	0.0002	0	4.133e-05	0.0084	0.0008	0.0014	0.0023	0.0007	0.0007	0.0007	0.0008	0.0019	0.0006	0.0006	0.0010	0.0008	0.0002	0	0.0009	0.0003	0.0002	0	0.0102	0.0011	0.0014	0.0019	0.0	0.91255	D	0.12	0.52060	T	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.999999	0.81001	D	.	.	.	0.72	0.50976	T	-4.23	0.75935	D	0.684	0.70088	-0.7567	0.57583	T	0.259	0.62977	T	8	0.027980268	0.00936	T	0.029808	0.52246	D	0.327	0.64926	.	.	0.547863905467	0.54442	0.4124449609622846	0.41160	.	.	.	.	.	0.09289	0.39097	T	-0.141926	0.29583	T	0.0168812	0.71428	D	0.155121161964957	0.17504	T	0.959004	0.84537	D	.	.	.	.	.	.	.	.	-3.159	0.11986	T	.	.	0.249	0.48386	B	.;.	.;.	3.214957	0.43783	21.8	0.99782575883711377	0.86955	0.98272	0.81139	D	AEFDBI	0.919835	0.89094	D	0.698962197968543	0.79563	7.104418	0.68479593830285	0.81224	7.477021	0.999999999999919	0.74766	0.428477	0.06694	0	0.00446	0.00028	3	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.37	4.37	0.51830	9.048000	0.93289	9.646000	0.81159	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.904	0.85989	447	0.79583	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1969.45	36	chr12	57272472	.	G	A	1969.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.135;DP=354;ExcessHet=0;FS=0.601;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.411;SOR=0.599	GT:AD:DP:GQ:PL	0/1:76,87:163:99:1980,0,1811	6	0	1	0
chr12	57718260	57718265	GAGGAT	-	exonic	OS9	.	nonframeshift deletion	OS9:NM_001261421:exon10:c.1153_1158del:p.D396_E397del,OS9:NM_001261422:exon10:c.1093_1098del:p.D376_E377del,OS9:NM_001261423:exon10:c.1072_1077del:p.D369_E370del,OS9:NM_001017956:exon11:c.1249_1254del:p.D428_E429del,OS9:NM_001017957:exon11:c.1249_1254del:p.D428_E429del,OS9:NM_001017958:exon11:c.1249_1254del:p.D428_E429del,OS9:NM_001261420:exon11:c.1252_1257del:p.D429_E430del,OS9:NM_006812:exon11:c.1249_1254del:p.D428_E429del	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0003	0.0002	0.0003	0.0001	0.0011	0.0009	0.0001153	3	26028	rs749881810	0.0003	0.0003	0.0002	0.0003	0.0021	0.0003	0.0003	0.0015	0.0014	0.0002	0.0004	3.826e-05	0.0005	0.0002	0.0021	0.0002	0.0002	0.0017	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0.0002	0	0.0001	0	0.0008	0	0	0.0002	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1906.42	36	chr12	57718259	.	GGAGGAT	G	1906.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.93;DP=304;ExcessHet=0;FS=2.44;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=0.306;SOR=0.639	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1917,0,2369	6	0	1	0
chr12	59775376	59775376	A	G	exonic	SLC16A7	.	nonsynonymous SNV	SLC16A7:NM_004731:exon4:c.A1081G:p.T361A,SLC16A7:NM_001270622:exon5:c.A1081G:p.T361A,SLC16A7:NM_001270623:exon5:c.A1081G:p.T361A	.	429	1081	10	2	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0169708297731	0.0002	0.00179712	0.0015	9.61e-05	0.0005	0	0	0.0001	0.0022	0.0098	0.0012872	199	154602	rs143304922	0.0007	0.0007	0.0004	0.0010	0.0096	0.0007	0.0007	0.0091	0.0089	0	8.946e-05	3.826e-05	0	1.872e-05	0.0043	0.0001	0.0010	0.0096	0.0005	0.0005	0.0004	0.0006	0.0086	0.0004	0.0004	0.0065	0.0058	7.288e-05	0	0.0002	0	0	0	0.0034	0.0004	0.0005	0.0086	0.02	0.52492	D	0.088	0.41913	T	0.868	0.47740	P	0.644	0.52249	P	0.000069	0.52346	D	0.198001	0.998489	0.46174	D	1.995	0.54099	M	1.01	0.41058	T	-1.99	0.48850	N	0.632	0.66615	-0.9891	0.32828	T	0.145	0.46823	T	9	0.010718942	0.00237	T	0.016971	0.38471	T	0.189	0.46613	.	.	0.577534042849	0.57422	0.45691763541533287	0.45609	0.200536113412	0.22454	0.504253149033	0.39420	T	0.183169	0.54321	T	-0.403557	0.02194	T	-0.344925	0.39786	T	0.0933221570739685	0.11607	T	0.90391	0.70896	D	0.54180837	0.69497	0.17784451	0.40414	0.54180837	0.69498	0.17784451	0.40413	-3.492	0.16320	T	.	.	0.214	0.50472	B	.;.;.;.;.	.;.;.;.;.	3.607230	0.50976	23.0	0.99684936706490079	0.79507	0.95673	0.65672	D	AEFI	0.543630	0.55888	D	0.213590797103061	0.51858	3.363847	0.184636665345029	0.49006	3.109056	0.00357927579864097	0.10184	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.77	3.33	0.37245	4.425000	0.59623	6.107000	0.53619	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.7452:0.0:0.0:0.2548	11.077	0.47257	892	0.26670	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003535	0.000000	0.002717	0.008876	0.000000	0.000000	0.006098	0.007576	0.07143	1694.45	33	chr12	59775376	.	A	G	1694.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.17;DP=328;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.672;SOR=0.732	GT:AD:DP:GQ:PL	0/1:68,64:132:99:1705,0,1748	6	0	1	0
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	85.67	46	chr12	70635944	.	G	A	85.67	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.239;DP=394;ExcessHet=0;FS=212.332;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.606;SOR=8.662	GT:AD:DP:GQ:PL	0/1:55,24:85:95:95,0,948	5	0	1	1
chr12	96297646	96297646	G	A	exonic	CDK17	.	nonsynonymous SNV	CDK17:NM_001170464:exon8:c.C791T:p.T264I,CDK17:NM_002595:exon8:c.C791T:p.T264I	.	464	1057	1	0	0	1	0.000472813	.	.	.	3649396	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.614	0.0244937232101	.	.	0.0002	0	8.637e-05	0.0002	0	0.0002	0	0.0007	0.0001682	26	154602	rs758304893	0.0001	0.0001	6.762e-05	0.0001	0.0009	8.682e-05	8.145e-05	0.0007	0.0007	3.034e-05	6.872e-05	0	0.0002	1.873e-05	0.0002	4.28e-05	0.0001	0.0009	8.536e-05	8.532e-05	7.71e-05	9.399e-05	0.0006	4.954e-05	3.96e-05	0.0002	8.996e-05	2.407e-05	0	0	0	0.0004	9.429e-05	0	7.352e-05	0.0005	0.0006	0.017	0.53172	D	0.026	0.57104	D	0.918	0.50838	P	0.767	0.56720	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.74	0.18910	N	-0.09	0.64086	T	-5.02	0.82575	D	0.706	0.70966	-0.5128	0.68184	T	0.296	0.66707	T	10	0.4922942	0.61063	T	0.024494	0.47488	T	0.614	0.84932	.	.	0.782191168402	0.78017	0.7302134402927744	0.72966	1.57472306996	0.88263	0.946036458015	0.99653	D	0.20419	0.56289	T	0.026492	0.55254	T	0.193791	0.82782	D	0.267226696014404	0.23628	T	0.958304	0.84304	D	0.5821033	0.71723	0.6062161	0.77106	0.5821033	0.71724	0.6062161	0.77107	-11.18	0.80636	D	.	.	0.592	0.73140	P	.;.;.	.;.;.	5.211558	0.87454	29.2	0.99870081389305465	0.94815	0.99855	0.99850	D	AEFDGBI	0.873031	0.79518	D	0.718014614944717	0.80813	7.378274	0.780329744060039	0.88393	9.565582	0.999999999999698	0.74766	0.706298	0.61202	0	0.696144	0.67643	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.76	5.76	0.90726	10.003000	0.99689	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.596	0.95533	768	0.49510	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	805.46	33	chr12	96297646	.	G	A	805.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.864;DP=254;ExcessHet=0;FS=0.935;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=1.08;SOR=0.535	GT:AD:DP:GQ:PL	0/1:31,37:68:99:816,0,774	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	523.59	45	chr12	103985730	.	T	TGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTA	523.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.68;DP=384;ExcessHet=0.3476;FS=11.316;MLEAC=1;MLEAF=0.071;MQ=57.38;MQRankSum=-4.969;QD=3.97;ReadPosRankSum=-2.552;SOR=2.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,16:87:99:0|1:103985728_A_ATTGAGAGC:455,0,2898:103985728	6	0	1	0
chr12	112141200	112141200	C	G	exonic	TRAFD1	.	nonsynonymous SNV	TRAFD1:NM_001143906:exon5:c.C619G:p.Q207E,TRAFD1:NM_006700:exon5:c.C619G:p.Q207E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00244217227902	.	.	3.39e-05	0	8.694e-05	0	0	0	0	0.0002	2.59e-05	4	154602	rs770479612	1.368e-05	1.368e-05	6.806e-06	2.063e-05	0.0002	8.94e-06	7.26e-06	0.0001	0.0001	0	0	0	0	0	0	0	4.967e-05	0.0002	6.572e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.284	0.16358	T	1.0	0.01155	T	0.241	0.30888	B	0.058	0.26451	B	0.335159	0.04154	N	1.421560	0.935144	0.26952	N	2.2	0.62015	M	4.13	0.02865	T	-0.29	0.13418	N	0.216	0.24883	-0.9299	0.44153	T	0.015	0.05801	T	10	0.04639563	0.03825	T	0.002442	0.04813	T	0.108	0.30607	0.338	0.32816	0.250579442822	0.24687	0.22644838438636808	0.22559	0.167219784978	0.18855	0.276089549065	0.06954	T	0.092258	0.38966	T	-0.485373	0.00689	T	-0.642832	0.09464	T	0.0549106869928484	0.06343	T	0.738226	0.35599	T	0.07637076	0.17269	0.09179335	0.21598	0.07637076	0.17268	0.09179335	0.21598	-3.226	0.12800	T	.	.	0.067	0.03336	B	.;.;.	.;.;.	2.068083	0.26296	17.07	0.16443905837709777	0.00441	0.93717	0.58990	D	AEFBI	0.186922	0.31422	N	-0.214655090391505	0.32533	1.835672	-0.148609298514531	0.33462	1.914336	0.999999963103706	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.54	4.54	0.55220	1.130000	0.31007	3.400000	0.38123	0.599000	0.40250	0.093000	0.22645	0.995000	0.32472	0.941000	0.48210	0.0:1.0:0.0:0.0	15.233	0.73100	111	0.95468	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	484.83	34	chr12	112141200	.	C	G	484.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.176;DP=267;ExcessHet=0;FS=1.908;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.64;ReadPosRankSum=0.838;SOR=0.493	GT:AD:DP:GQ:PL	0/1:59,27:86:99:495,0,1635	6	0	1	0
chr12	118244932	118244932	T	C	exonic	TAOK3	.	nonsynonymous SNV	TAOK3:NM_001346487:exon4:c.A154G:p.I52V,TAOK3:NM_001346489:exon4:c.A154G:p.I52V,TAOK3:NM_016281:exon4:c.A154G:p.I52V,TAOK3:NM_001346488:exon5:c.A154G:p.I52V	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00976266118894	.	0.000599042	0.0003	9.639e-05	0	0	0	0	0	0.0018	0.0002199	34	154602	rs564531727	9.877e-05	0.0001	6.279e-05	0.0001	0.0015	8.534e-05	8.003e-05	0.0013	0.0012	0	0	0	0	0	0	5.411e-06	0.0001	0.0015	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.091	0.31834	T	0.082	0.43913	T	0.012	0.16265	B	0.036	0.22909	B	0.023830	0.26371	N	0.382752	0.98758	0.40615	D	0.98	0.24916	L	1.9	0.62183	T	-0.72	0.23808	N	0.108	0.09349	-1.0565	0.12646	T	0.111	0.39841	T	10	0.01625985	0.00342	T	0.009763	0.25472	T	0.013	0.01715	0.503	0.59615	0.258436476835	0.25460	0.2783703484509638	0.27750	0.324152812621	0.34570	0.285633504391	0.08290	T	0.041874	0.31540	T	-0.447191	0.01173	T	-0.450514	0.27640	T	0.0117020317879948	0.00179	T	0.89791	0.64303	D	0.09813453	0.23142	0.080597065	0.18244	0.09813453	0.23142	0.080597065	0.18244	-7.214	0.55582	T	.	.	0.075	0.12891	B	.;.;.;.;.;.	.;.;.;.;.;.	0.824840	0.11960	8.521	0.95011603876023065	0.25985	0.38450	0.25991	N	AEFBI	0.081013	0.16388	N	-0.603967461634763	0.18824	0.9804182	-0.482329960301677	0.22640	1.230732	7.72579364528384E-5	0.04552	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.14	-0.811	0.10310	0.480000	0.21954	-1.201000	0.06041	0.605000	0.46263	0.147000	0.23610	0.000000	0.08366	0.998000	0.85391	0.0:0.3844:0.0:0.6156	10.616	0.44640	963	0.08280	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain;Protein kinase, ATP binding site|Protein kinase domain;Protein kinase, ATP binding site|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	.	.	.	.	.	.	.	.	0.07143	876.44	35	chr12	118244932	.	T	C	876.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.417;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.33;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,37:70:99:0|1:118244932_T_C:887,0,782:118244932	6	0	1	0
chr12	120175820	120175820	C	T	exonic	GCN1	.	nonsynonymous SNV	GCN1:NM_006836:exon11:c.G968A:p.R323Q	.	432	1089	1	0	0	1	0.000458926	.	.	.	4138102	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00616723245469	.	0.000199681	5.142e-05	0	9.012e-05	0.0001	0	0	0	0.0003	4.53e-05	7	154602	rs540952471	2.396e-05	2.394e-05	1.498e-05	3.302e-05	0.0003	1.74e-05	1.54e-05	0.0002	0.0002	5.986e-05	0	0	2.521e-05	0	0.0002	2.699e-06	3.315e-05	0.0003	3.282e-05	3.281e-05	1.284e-05	5.369e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.989e-05	2.404e-05	0	0	0	0	0	0	1.47e-05	0	0.0006	0.318	0.13654	T	0.324	0.18903	T	.	.	.	.	.	.	0.000066	0.52346	D	0.151780	0.555117	0.32166	D	.	.	.	3.56	0.04696	T	-0.33	0.12472	N	0.227	0.25499	-0.9935	0.31696	T	0.006	0.02206	T	10	0.072707176	0.10889	T	0.006167	0.16170	T	0.035	0.08770	0.401	0.43081	0.043077524339	0.03247	0.07105298810378172	0.07042	0.203220193723	0.22737	0.244394987822	0.03200	T	.	.	.	-0.493342	0.00623	T	-0.640451	0.09636	T	0.0399364367788063	0.03678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01449	B	.	.	2.372779	0.30450	18.44	0.99614594896939879	0.75052	0.71497	0.35039	D	AEFBCI	0.128320	0.24604	N	-0.504003876707224	0.21949	1.168638	-0.294079152902122	0.28293	1.576509	0.329484544106876	0.19470	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.66	2.84	0.32241	1.894000	0.39401	0.140000	0.15159	0.599000	0.40250	1.000000	0.71638	0.112000	0.22806	0.988000	0.63387	0.0:0.5738:0.0:0.4262	7.987	0.29379	444	0.79803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1399.63	42	chr12	120175820	.	C	T	1399.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.878;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.088;SOR=0.682	GT:AD:DP:GQ:PL	0/1:52,62:114:99:1410,0,1159	6	0	1	0
chr13	24494662	24494662	A	G	exonic	PARP4	.	nonsynonymous SNV	PARP4:NM_006437:exon7:c.T652C:p.Y218H	.	511	1009	2	0	0	2	0.000990099	.	.	.	3374627	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.00270420006915	0.0004	.	0.0003	0	0.0004	0	0	0.0004	0	0.0003	0.0002846	44	154602	rs141335603	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0003	0.0006	0.0004	2.995e-05	0.0002	0.0001	0	3.745e-05	0.0012	0.0003	0.0004	0.0002	0.0004	0.0004	0.0003	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	9.625e-05	0.0143	0.0003	0	0	0	0	0.0005	0.0005	0	0.097	0.30943	T	0.233	0.24913	T	0.984	0.60733	D	0.819	0.59018	P	0.316952	0.14336	N	0.669254	1	0.08975	N	2.48	0.72069	M	0.91	0.44856	T	-2.58	0.55662	D	0.289	0.32701	-0.9192	0.45662	T	0.193	0.54608	T	10	0.023000091	0.00589	T	0.002704	0.05550	T	0.136	0.36778	.	.	0.706005554004	0.70344	0.4244398762556877	0.42360	0.524165399653	0.50111	0.523069262505	0.42059	T	0.116602	0.43606	T	-0.381088	0.03067	T	-0.453118	0.27353	T	0.382004708051682	0.28259	T	0.630737	0.24588	T	0.11318009	0.26732	0.09506993	0.22531	0.11318009	0.26731	0.09506993	0.22530	-3.843	0.21448	T	.	.	0.156	0.34470	B	.	.	3.150773	0.42647	21.6	0.98223057198296504	0.39316	0.28712	0.23628	N	AEFBI	0.116052	0.22792	N	-0.0107179319723596	0.41369	2.473255	-0.189954045275297	0.31904	1.810006	0.992915768731215	0.33015	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.52	4.52	0.54797	3.319000	0.51694	4.812000	0.45049	0.715000	0.85334	0.026000	0.20160	0.257000	0.23957	0.219000	0.22435	1.0:0.0:0.0:0.0	11.833	0.51581	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1107.63	33	chr13	24494662	.	A	G	1107.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.626;DP=285;ExcessHet=0;FS=2.51;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.271;SOR=0.464	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1118,0,1255	6	0	1	0
chr13	32231282	32231282	T	C	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon41:c.T5509C:p.F1837L	.	2	1513	7	0	0	7	0.00230795	.	.	.	725463	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.220	0.00164378615415	.	0.000199681	0.0006	0	0	0	0	0.0001	0	0.0039	0.0004981	77	154602	rs55673178	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0003	0.0033	0.0032	0	2.236e-05	0	0	0	0.0016	9.086e-05	0.0003	0.0036	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0001	0.0016	0.0013	0	0	6.534e-05	0	0	0	0	0.0002	0.0009	0.0027	.	.	.	0.004	0.74150	D	0.002	0.09854	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.82	0.47800	L	.	.	.	.	.	.	0.699	0.81957	-1.0812	0.07118	T	0.084	0.32786	T	10	0.014796644	0.00311	T	0.001644	0.02676	T	0.220	0.51569	0.651	0.78858	0.138757226776	0.13463	0.6195246745677334	0.61885	0.514230521258	0.49380	0.811369299889	0.83702	D	0.120306	0.59454	T	-0.0824388	0.39318	T	0.10765	0.77417	D	0.070161308751576	0.08674	T	0.991201	0.97285	D	0.4060051	0.61146	0.5081346	0.71574	0.4060051	0.61147	0.5081346	0.71575	-9.939	0.73546	D	.	.	0.955	0.87405	P	.;.;.;.;.	.;.;.;.;.	4.093167	0.60974	24.3	0.99445648376849438	0.65021	0.96780	0.70900	D	AEFBI	0.676030	0.64121	D	0.040002952827877	0.43683	2.65653	0.219982053969414	0.50956	3.282541	0.999999999966543	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.76	5.76	0.90726	7.670000	0.82907	7.814000	0.69527	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	16.067	0.80693	946	0.12043	Cell morphogenesis central region;Cell morphogenesis central region;Cell morphogenesis central region;Cell morphogenesis central region;Cell morphogenesis central region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1599.45	36	chr13	32231282	.	T	C	1599.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.616;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.41;SOR=0.634	GT:AD:DP:GQ:PL	0/1:55,68:123:99:1610,0,1314	6	0	1	0
chr13	32239736	32239736	A	G	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon46:c.A6542G:p.K2181R	.	2	1501	18	1	0	20	0.00661813	.	.	.	713906	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.137	0.00534503153337	0.0020	0.00159744	0.0023	0.0016	0.0015	0	0	0.0024	0.0011	0.0047	0.0021539	333	154602	rs193120945	0.0021	0.0021	0.0019	0.0023	0.0076	0.0020	0.0020	0.0058	0.0052	0.0013	0.0015	0.0057	0	0.0002	0.0076	0.0020	0.0021	0.0044	0.0019	0.0019	0.0019	0.0018	0.0046	0.0017	0.0016	0.0031	0.0026	0.0016	0	0.0023	0.0049	0	0.0002	0	0.0021	0.0028	0.0046	.	.	.	0.142	0.33330	T	0.744	0.43069	P	0.435	0.45529	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	.	.	.	.	.	.	0.463	0.58117	-1.1146	0.02703	T	0.086	0.33354	T	10	0.009856969	0.00221	T	0.005345	0.13679	T	0.137	0.36984	.	.	0.0934897674506	0.08844	0.34217288690981373	0.34130	0.996671736849	0.74258	0.703397274017	0.67635	T	0.02817	0.22039	T	-0.29952	0.08706	T	-0.202749	0.54385	T	0.0190042936767395	0.00609	T	0.961204	0.85427	D	0.21366832	0.43751	0.22364557	0.47251	0.21366832	0.43751	0.22364557	0.47250	-5.702	0.43712	T	.	.	0.097	0.15832	B	.;.;.;.;.	.;.;.;.;.	4.009705	0.59140	24.1	0.99882990656796666	0.95892	0.99042	0.90377	D	AEFBI	0.873240	0.79550	D	0.544965658979674	0.69774	5.40525	0.637761024529979	0.77703	6.730514	0.999999999999178	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	6.07	6.07	0.98675	7.493000	0.80329	6.973000	0.57097	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	16.641	0.84955	946	0.12043	Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.006793	0.002924	0.000000	0.008621	0.006098	0.003788	0.07143	620.53	33	chr13	32239736	.	A	G	620.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.598;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-0.589;SOR=0.749	GT:AD:DP:GQ:PL	0/1:47,29:76:99:631,0,1208	6	0	1	0
chr13	33017247	33017247	C	G	exonic	KL	.	nonsynonymous SNV	KL:NM_004795:exon1:c.C807G:p.H269Q	Tumoral calcinosis, hyperphosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1633673	not_provided|KL-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.580	0.430856675639	0.0004	0.00119808	0.0004	0.0068	0	0	0	0	0	0	0.0002135	33	154602	rs368291756	0.0001	0.0001	0.0001	0.0001	0.0041	9.926e-05	9.391e-05	0.0036	0.0034	0.0041	0.0001	0	0	0	0	2.727e-06	0.0003	0	0.0011	0.0011	0.0011	0.0010	0.0037	0.0009	0.0009	0.0032	0.0030	0.0037	0	0.0005	0	0	0	0	0	0.0009	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.785	0.95291	H	0.13	0.60973	T	-7.45	0.94899	D	0.855	0.85132	0.370	0.88640	D	0.538	0.82931	D	10	0.06864825	0.09738	T	0.430857	0.93979	D	0.580	0.83081	0.738	0.87063	0.926619176812	0.92587	0.9142317389128645	0.91398	2.10983627166	0.94926	0.681194067001	0.64441	T	0.375429	0.73903	T	0.0154882	0.53771	T	0.250287	0.85633	D	0.330088138580322	0.26228	T	0.829117	0.49388	T	0.98819375	0.99666	0.98864704	0.99968	0.98819375	0.99666	0.98864704	0.99968	-8.621	0.65228	D	0.7408860151346929	0.82294	0.627	0.69975	P	.	.	4.542704	0.71414	25.7	0.99328352106260254	0.59661	0.85424	0.44555	D	AEFDGBCI	0.577591	0.57913	D	0.820304299503265	0.87359	9.190572	0.678178347730903	0.80727	7.363193	0.999999999962901	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.55	3.69	0.41483	2.677000	0.46558	3.223000	0.36864	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9197:0.0:0.0803	13.105	0.58659	604	0.67577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	822.44	35	chr13	33017247	.	C	G	822.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.962;DP=288;ExcessHet=0;FS=0.816;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-1.328;SOR=0.554	GT:AD:DP:GQ:PL	0/1:49,40:89:99:833,0,1215	6	0	1	0
chr13	33110802	33110802	T	C	exonic	STARD13	.	nonsynonymous SNV	STARD13:NM_052851:exon11:c.A2359G:p.T787A,STARD13:NM_178006:exon11:c.A2713G:p.T905A,STARD13:NM_178007:exon11:c.A2689G:p.T897A,STARD13:NM_001243476:exon15:c.A2608G:p.T870A	.	430	1084	7	1	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	0.00179712	0.0018	9.61e-05	0	0	0	1.498e-05	0	0.0133	0.0015136	234	154602	rs572630918	0.0008	0.0008	0.0004	0.0013	0.0137	0.0008	0.0008	0.0131	0.0128	2.987e-05	0	0	0	0	0.0012	1.799e-06	0.0006	0.0137	0.0003	0.0003	0.0001	0.0006	0.0097	0.0002	0.0002	0.0075	0.0067	0	0	0	0	0.0004	0	0	0	0	0.0097	0.236	0.17940	T	0.295	0.20680	T	0.001	0.07471	B	0.004	0.10090	B	0.000371	0.45194	D	0.255981	1	0.08975	N	0.755	0.19153	N	3.39	0.05710	T	-1.06	0.30964	N	0.338	0.37923	-1.0068	0.27912	T	0.016	0.06569	T	10	0.0040730536	0.00080	T	.	.	.	0.038	0.09825	0.221	0.14371	0.356072328145	0.35220	0.2216906021475708	0.22084	0.180330083258	0.20290	0.308916240931	0.11743	T	0.118944	0.44013	T	-0.679063	0.00049	T	-0.737172	0.04010	T	0.0218273758498539	0.00889	T	0.833317	0.50212	T	0.05789907	0.11583	0.043276887	0.05349	0.05789907	0.11582	0.043276887	0.05349	-5.119	0.40678	T	.	.	0.068	0.03231	B	.;.;.	.;.;.	2.541758	0.32879	19.18	0.97511131168487541	0.34352	0.61436	0.31484	D	AEFGBHCI	0.131895	0.25100	N	-0.469482674093094	0.23085	1.237201	-0.390098903560168	0.25290	1.389948	0.999999998649125	0.74766	0.645754	0.44609	0	0.623108	0.53289	0	0.618467	0.43123	0	0.723	0.93126	0	.	.	5.93	3.34	0.37357	1.568000	0.36027	1.475000	0.26781	0.651000	0.53179	0.695000	0.28578	0.970000	0.29701	0.916000	0.45140	0.1243:0.0:0.1303:0.7455	9.046	0.35507	473	0.77910	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1749.44	39	chr13	33110802	.	T	C	1749.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.817;DP=406;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-0.17;SOR=0.695	GT:AD:DP:GQ:PL	0/1:117,73:190:99:1760,0,3135	6	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	453.09	45	chr13	38859428	.	G	C	453.09	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-3.538;DP=745;ExcessHet=2.5225;FS=268.6;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.78;SOR=10.778	GT:AD:DP:GQ:PL	0/1:95,41:136:44:44,0,1585	2	0	4	1
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	599.43	61	chr13	42303097	.	G	C	599.43	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.816;DP=548;ExcessHet=4.7409;FS=227.48;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.35;ReadPosRankSum=1.65;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,19:88:57:.:.:57,0,1718:.	2	0	5	0
chr13	46895722	46895722	G	T	exonic	HTR2A	.	stopgain	HTR2A:NM_000621:exon2:c.C185A:p.S62X,HTR2A:NM_001378924:exon2:c.C185A:p.S62X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136357	0.18449	N	0.494436	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.893	0.89242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518762	0.94859	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	8.848748	0.98108	38	0.99510317709855978	0.68558	0.87896	0.47596	D	AEFBI	0.048264	0.08217	N	0.79143061957133	0.85567	8.614413	0.652908153675004	0.78827	6.955367	0.99999678137226	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.7	5.7	0.88690	3.209000	0.50824	9.906000	0.82388	0.676000	0.76740	0.790000	0.29595	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	15.347	0.74059	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	437.44	33	chr13	46895722	.	G	T	437.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.422;DP=325;ExcessHet=0;FS=89.006;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.12;ReadPosRankSum=-0.056;SOR=6.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,30:140:99:0|1:46895722_G_T:448,0,3990:46895722	6	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	257.6	65	chr13	48459808	.	T	C	257.6	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.879;DP=428;ExcessHet=3.1439;FS=244.247;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.1;SOR=9.044	GT:AD:DP:GQ:PL	0/1:87,32:119:99:119,0,1470	2	0	4	1
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	214.14	80	chr13	69882456	.	G	A	214.14	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.587;DP=670;ExcessHet=3.1439;FS=184.8;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=1.12;SOR=10.665	GT:AD:DP:GQ:PL	0/1:89,36:136:77:77,0,1278	2	0	4	1
chr13	72775212	72775212	A	G	exonic	DIS3	.	nonsynonymous SNV	DIS3:NM_001322348:exon5:c.T617C:p.M206T,DIS3:NM_001128226:exon6:c.T896C:p.M299T,DIS3:NM_014953:exon6:c.T986C:p.M329T,DIS3:NM_001322349:exon7:c.T500C:p.M167T	.	427	1089	5	1	0	7	0.00320366	0.0006	0.074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	.	0.00459265	0.0025	0	0	0	0.0002	3.014e-05	0.0033	0.0187	0.002238	346	154602	rs371864555	0.0012	0.0012	0.0007	0.0017	0.0187	0.0011	0.0011	0.0179	0.0176	6.007e-05	0	0	2.523e-05	0	0.0012	3.151e-05	0.0015	0.0187	0.0007	0.0007	0.0004	0.0011	0.0209	0.0006	0.0006	0.0176	0.0164	0.0001	0	0	0	0.0002	0	0	4.412e-05	0.0005	0.0209	0.609	0.06086	T	0.595	0.08390	T	0.0	0.02946	B	0.0	0.01387	B	0.607690	0.05682	N	1.171550	0.999663	0.21182	N	-0.405	0.02972	N	1.56	0.29602	T	-1.09	0.28290	N	0.08	0.08506	-1.0015	0.29488	T	0.051	0.21572	T	10	0.0065302253	0.00148	T	.	.	.	0.057	0.16321	0.408	0.44230	0.505273739051	0.50166	0.36965375735927525	0.36879	0.151737054767	0.17126	0.472794234753	0.35065	T	0.003538	0.02950	T	-0.645479	0.00077	T	-0.685026	0.06681	T	0.0113425917754374	0.00168	T	0.525647	0.17278	T	0.045108676	0.07329	0.054911677	0.09533	0.045108676	0.07328	0.054911677	0.09532	-0.853	0.00850	T	.	.	0.090	0.12560	B	.;.;.	.;.;.	1.098452	0.14827	11.36	0.52543360255439064	0.04768	0.66083	0.32956	D	AEFBI	0.128343	0.24608	N	-0.583509911732741	0.19446	1.017791	-0.44320054520551	0.23742	1.296361	0.99991822946725	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	3.72	0.41857	0.642000	0.24426	0.664000	0.20530	0.756000	0.94297	0.977000	0.34929	0.016000	0.20520	0.706000	0.34326	0.6877:0.1365:0.1758:0.0	6.359	0.20619	980	0.04108	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	818.53	34	chr13	72775212	.	A	G	818.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.331;DP=225;ExcessHet=0;FS=3.512;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.413;SOR=0.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,37:68:99:0|1:72775212_A_G:829,0,1191:72775212	6	0	1	0
chr13	76992174	76992174	T	C	exonic	CLN5	.	nonsynonymous SNV	CLN5:NM_001366624:exon1:c.T76C:p.W26R,CLN5:NM_006493:exon1:c.T76C:p.W26R	Ceroid lipofuscinosis, neuronal, 5, Autosomal recessive	1	1495	26	0	0	26	0.00862069	.	.	.	202778	not_provided|Neuronal_ceroid_lipofuscinosis_5|CLN5-related_disorder|Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731,Orphanet:168491,Orphanet:228360|.|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.251	0.00466099649959	0.0013	0.000599042	0.0018	0.0003	0.0005	0	0	0.0025	0	0.0022	0.0012742	197	154602	rs199727787	0.0012	0.0012	0.0011	0.0012	0.0164	0.0011	0.0011	0.0134	0.0123	0.0006	0.0003	0.0223	2.529e-05	0	0.0164	0.0005	0.0034	0.0023	0.0012	0.0012	0.0012	0.0013	0.0023	0.0011	0.0010	0.0013	0.0010	0.0003	0	0.0005	0.0242	0	0	0.0171	0.0009	0.0014	0.0023	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.074966	0.21251	N	0.503542	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	.	.	-0.9557	0.39970	T	0.046	0.19760	T	10	0.004347682	0.00088	T	0.004661	0.11566	T	0.251	0.56024	0.614	0.74768	0.328752806141	0.32485	.	.	0.315112313597	0.33798	0.714274346828	0.69213	T	0.073766	0.46340	T	-0.333011	0.05887	T	-0.257291	0.49095	T	0.0035346265132851	0.00037	T	0.272073	0.04599	T	0.08435695	0.19522	0.08009138	0.18088	0.08435695	0.19522	0.08009138	0.18087	-2.851	0.08663	T	.	.	0.121	0.25166	B	.;.;.;.;.;.	.;.;.;.;.;.	0.902027	0.12763	9.278	0.40149424438879883	0.02815	0.06829	0.12853	N	AEFGBHCI	0.038351	0.05414	N	-1.32289881432295	0.03414	0.1524763	-1.40063660044462	0.03246	0.1510322	0.9999999999992	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	3.96	-1.88	0.07294	-0.016000	0.12550	0.602000	0.19937	-0.238000	0.07553	0.012000	0.18695	0.085000	0.22446	0.009000	0.08673	0.1477:0.3857:0.0:0.4666	4.782	0.12574	907	0.22727	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014374	0.005263	0.008174	0.043210	0.000000	0.025862	0.015723	0.007634	0.1429	1147.26	39	chr13	76992174	.	T	C	1147.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.61;DP=287;ExcessHet=0.3476;FS=1.401;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=0.423;SOR=0.781	GT:AD:DP:GQ:PL	0/1:52,37:89:99:752,0,1337	5	0	2	0
chr13	77000847	77000847	A	C	exonic	CLN5	.	nonsynonymous SNV	CLN5:NM_006493:exon4:c.A955C:p.K319Q	Ceroid lipofuscinosis, neuronal, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.0309975604048	.	.	1.675e-05	0	0	0	0	3.056e-05	0	0	1.29e-05	2	154602	rs202171514	8.957e-06	8.893e-06	1.096e-05	6.932e-06	0.0002	5e-06	3.85e-06	4.56e-06	3.33e-06	0	0	0	0	0	0.0002	9.022e-06	3.339e-05	0	6.569e-06	6.567e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	0.096	0.25489	B	0.067	0.27542	B	0.000002	0.62929	D	0.120503	0.999938	0.19363	N	0.975	0.24501	L	.	.	.	.	.	.	.	.	-0.3063	0.74809	T	0.478	0.80037	T	10	0.15217558	0.28750	T	0.030998	0.53184	D	0.367	0.68670	0.417	0.45709	0.972090864053	0.97178	.	.	0.253864010051	0.27951	0.27060008049	0.06220	T	0.115364	0.84445	T	-0.0984649	0.36680	T	-0.269156	0.47904	T	0.140938518588941	0.16357	T	0.282772	0.04965	T	0.2714083	0.50212	0.07911515	0.17781	0.2714083	0.50212	0.07911515	0.17781	-3.077	0.11033	T	0.3320439027099558	0.43003	0.102	0.18206	B	.;.	.;.	3.347212	0.46151	22.3	0.96179808622985419	0.28957	0.90538	0.51796	D	AEFDGBI	0.383512	0.46499	N	-0.127137288819513	0.36214	2.090219	0.0687928471671169	0.42989	2.610112	0.999999999125488	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.463624	0.06942	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.736000	0.61753	11.210000	0.89365	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.8219:0.1781:0.0:0.0	12.456	0.55043	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1624.53	33	chr13	77000847	.	A	C	1624.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=270;ExcessHet=0;FS=7.112;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.47;ReadPosRankSum=-3.419;SOR=1.449	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,43:93:99:0|1:77000847_A_C:1635,0,1959:77000847	6	0	1	0
chr13	78602133	78602153	CCGCCGCCCGGGCCGCCGCCG	-	exonic	POU4F1	.	nonframeshift deletion	POU4F1:NM_006237:exon2:c.522_542del:p.G175_G181del	.	605	916	1	0	0	1	0.000545554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1163245473	6.677e-05	2.138e-05	6.457e-05	6.913e-05	3.748e-05	1.105e-05	4.13e-06	.	.	0	0	0	0	0	0	3.748e-05	0.0010	0	8.432e-05	8.157e-05	8.192e-05	8.686e-05	0.0019	4.787e-05	3.742e-05	0.0010	0.0008	0	0	6.911e-05	0	0	0	0	3.096e-05	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	238.1	2	chr13	78602132	.	CCCGCCGCCCGGGCCGCCGCCG	C	238.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.282;DP=27;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=26.46;ReadPosRankSum=0.812;SOR=0.941	GT:AD:DP:GQ:PL	0/1:2,7:9:21:247,0,21	5	0	1	1
chr13	83880509	83880509	T	G	exonic	SLITRK1	.	nonsynonymous SNV	SLITRK1:NM_052910:exon1:c.A999C:p.K333N,SLITRK1:NM_001281503:exon2:c.A999C:p.K333N	Tourette syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0305395739461	.	.	4.125e-05	0	0	0	0	6.004e-05	0	6.058e-05	3.23e-05	5	154602	rs760138011	3.899e-05	3.899e-05	2.859e-05	4.95e-05	0.0023	3.047e-05	2.783e-05	0.0013	0.0011	0	0	0	0	0	0.0023	3.058e-05	3.311e-05	9.275e-05	2.634e-05	2.626e-05	1.288e-05	4.042e-05	0.0001	8.15e-06	5.15e-06	2.263e-05	9.08e-06	0	0	0.0001	0	0	0	0.0034	0	0.0005	0	0.268	0.16144	T	0.385	0.15746	T	0.834	0.46206	P	0.71	0.54502	P	0.000805	0.41658	N	0.269660	0.987198	0.40550	D	1.355	0.33814	L	0.33	0.58323	T	-0.2	0.10136	N	0.071	0.04426	-0.9592	0.39330	T	0.099	0.36856	T	10	0.15369767	0.29006	T	0.03054	0.52827	D	0.175	0.44197	0.46	0.52753	0.552154753999	0.54872	0.532040762923021	0.53129	1.03347403124	0.75493	0.365128874779	0.20130	T	0.095544	0.39643	T	-0.344572	0.05078	T	-0.625073	0.10791	T	0.173365503549576	0.18806	T	0.489851	0.15048	T	0.06572243	0.14072	0.05221238	0.08557	0.06572243	0.14072	0.05221238	0.08557	-4.155	0.26097	T	0.0855648165656027	0.04838	0.159	0.35098	B	.	.	1.511216	0.19414	14.25	0.87463102984498275	0.17245	0.43125	0.27029	N	AEFDBCI	0.095943	0.19377	N	-0.418992973102738	0.24804	1.341887	-0.451687419677359	0.23501	1.281923	0.964213124447331	0.28744	0.65757	0.49021	0	0.547309	0.14657	0	0.619478	0.44681	0	0.564101	0.26826	0	.	.	4.85	-4.26	0.03497	-0.078000	0.11338	-0.417000	0.09309	-0.120000	0.14102	0.665000	0.28304	0.004000	0.18990	0.933000	0.47100	0.0:0.2823:0.3519:0.3659	6.268	0.20145	973	0.05605	.	.	.	.	.	.	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	0.002518	0.005051	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1770.46	36	chr13	83880509	.	T	G	1770.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.551;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.961;SOR=0.676	GT:AD:DP:GQ:PL	0/1:63,71:134:99:1781,0,1663	6	0	1	0
chr13	98888499	98888499	C	T	exonic	DOCK9	.	nonsynonymous SNV	DOCK9:NM_001130049:exon17:c.G1841A:p.S614N,DOCK9:NM_001130050:exon17:c.G1838A:p.S613N,DOCK9:NM_001366677:exon17:c.G1874A:p.S625N,DOCK9:NM_001366679:exon17:c.G1838A:p.S613N,DOCK9:NM_001366680:exon17:c.G1838A:p.S613N,DOCK9:NM_001366681:exon17:c.G1838A:p.S613N,DOCK9:NM_001366682:exon17:c.G1838A:p.S613N,DOCK9:NM_001366683:exon17:c.G1838A:p.S613N,DOCK9:NM_001366684:exon17:c.G1838A:p.S613N	.	.	.	.	.	.	.	.	.	.	.	2348424	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00768651509677	0.0002	.	7.456e-05	0.0001	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs373710937	0.0001	0.0001	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	2.987e-05	0	0	0	1.873e-05	0	0.0002	3.313e-05	1.159e-05	3.942e-05	3.94e-05	6.423e-05	1.345e-05	5.879e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	4.825e-05	0	0	0	0	0	0	5.879e-05	0	0	0.155	0.26629	T	0.324	0.22223	T	0.041	0.21357	B	0.03	0.21741	B	0.133764	0.18539	N	0.617522	0.998052	0.22374	N	.	.	.	2.03	0.20959	T	-1.31	0.32791	N	0.152	0.17002	-0.9923	0.32012	T	0.025	0.10509	T	9	0.0852119	0.14363	T	0.007687	0.20404	T	0.054	0.15330	.	.	0.225033846419	0.22103	0.07240410560808028	0.07177	0.292556345877	0.31669	0.317531436682	0.13047	T	0.027563	0.20159	T	-0.467616	0.00880	T	-0.661165	0.08188	T	0.0230690384095778	0.01032	T	0.918008	0.70480	D	.	.	.	.	.	.	.	.	-5.516	0.44939	T	.	.	0.080	0.10883	B	.;.;.;.;.	.;.;.;.;.	1.049257	0.14305	10.88	0.56256472250581635	0.05513	0.62471	0.31791	D	AEFGBI	0.053742	0.09709	N	-0.983720980616429	0.08950	0.4216941	-0.914217271392734	0.11758	0.6009978	0.999915084749981	0.45857	0.67177	0.52595	0	0.588015	0.36545	0	0.675528	0.61593	0	0.711	0.71501	0	.	.	5.67	0.762	0.17600	1.077000	0.30353	1.416000	0.26322	-0.184000	0.09925	0.991000	0.37257	0.496000	0.25178	0.115000	0.18958	0.0651:0.5092:0.4257:0.0	12.823	0.57087	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	.	.	.	.	.	.	.	.	0.07143	2439.44	35	chr13	98888499	.	C	T	2439.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.501;DP=377;ExcessHet=0;FS=3.466;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.027;SOR=0.468	GT:AD:DP:GQ:PL	0/1:85,95:180:99:2450,0,2091	6	0	1	0
chr13	110457152	110457235	TGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCC	-	exonic	COL4A2-AS2	.	nonframeshift deletion	COL4A2-AS2:NM_001267044:exon5:c.490_573del:p.G164_A191del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0	0.0048	0	0	0	0	.	.	.	.	7.01e-05	0.0003	9.884e-05	4.76e-05	0.0001	4.599e-05	3.917e-05	3.933e-05	3.099e-05	0	0.0001	0.0002	0.0001	6.232e-05	0	7.156e-05	7.037e-05	1.831e-05	6.704e-05	0.0003	6.532e-05	6.885e-05	0.0003	2.264e-05	1.353e-05	.	.	8.502e-05	0	0	0.0008	0.0003	0	0	3.459e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	59.13	25	chr13	110457151	.	GTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCC	G	59.13	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.107;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=52.57;MQRankSum=-0.496;QD=1.52;ReadPosRankSum=-0.099;SOR=0.641	GT:AD:DP:GQ:PL	0/1:35,4:39:69:69,0,1053	6	0	1	0
chr13	110457228	110457232	TGATG	0	exonic	COL4A2-AS2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	40.8	38	chr13	110457228	.	TGATG	*	40.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.663;DP=211;ExcessHet=0.3476;FS=1.599;MLEAC=1;MLEAF=0.071;MQ=52.94;MQRankSum=1.02;QD=0.73;ReadPosRankSum=2.39;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,4:39:69:.:.:69,0,1053:.	6	0	1	0
chr13	110457229	110457229	G	0	exonic	COL4A2-AS2	.	.	.	.	743	724	34	19	2	74	0.0473684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	806.46	38	chr13	110457229	.	G	*	806.46	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0;DP=217;ExcessHet=0.095;FS=1.959;MLEAC=2;MLEAF=0.167;MQ=54.42;MQRankSum=0.842;QD=8.96;ReadPosRankSum=1.28;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,4:39:69:.:.:69,0,1053:.	4	0	2	1
chr13	110457233	110457271	CCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTG	0	exonic	COL4A2-AS2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	46.8	38	chr13	110457233	.	CCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTG	*	46.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.529;DP=261;ExcessHet=0.3476;FS=1.599;MLEAC=1;MLEAF=0.071;MQ=57.89;MQRankSum=1.02;QD=0.84;ReadPosRankSum=2.52;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,4:39:69:.:.:69,0,1053:.	6	0	1	0
chr13	110683120	110683120	C	T	exonic	CARS2	.	nonsynonymous SNV	CARS2:NM_001352253:exon6:c.G586A:p.D196N,CARS2:NM_024537:exon6:c.G586A:p.D196N	Combined oxidative phosphorylation deficiency 27, Autosomal recessive	425	1071	24	2	0	28	0.0129032	.	.	.	372648	Combined_oxidative_phosphorylation_defect_type_27|not_provided|not_specified	MONDO:MONDO:0014728,MedGen:C5567608,OMIM:616672,Orphanet:477774|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.183	.	0.0008	0.00559105	0.0037	9.645e-05	0.0004	0.0001	0	0.0018	0.0022	0.0202	0.0032406	501	154602	rs140082252	0.0018	0.0019	0.0012	0.0024	0.0191	0.0017	0.0017	0.0184	0.0180	6.205e-05	0.0002	0.0191	2.608e-05	0	0.0067	0.0003	0.0027	0.0191	0.0014	0.0014	0.0010	0.0017	0.0166	0.0012	0.0012	0.0136	0.0126	7.226e-05	0	0.0005	0.0228	0	0	0.0034	0.0005	0.0019	0.0166	0.118	0.28148	T	0.113	0.36901	T	0.973	0.57599	D	0.801	0.58220	P	0.000000	0.84330	D	0.000000	0.999593	0.47742	D	1.46	0.36832	L	1.19	0.37578	T	-3.56	0.68880	D	0.375	0.41656	-0.8956	0.48427	T	0.166	0.50389	T	10	0.01248005	0.00268	T	.	.	.	0.183	0.45592	.	.	0.595618126301	0.59240	0.8516638287777879	0.85128	0.36004956123	0.37690	0.491516232491	0.37649	T	0.577534	0.86113	D	-0.486362	0.00680	T	-0.456465	0.26985	T	0.0485474203814761	0.05241	T	0.931207	0.74412	D	0.35733855	0.57633	0.32977292	0.58853	0.35223567	0.57240	0.32805425	0.58697	-7.284	0.56081	T	0.2633904641875997	0.35534	0.159	0.35077	B	.	.	4.530673	0.71121	25.6	0.99873699423563034	0.95076	0.85523	0.44664	D	AEFDBCI	0.317831	0.42171	N	0.459975856206608	0.64773	4.739321	0.433699733967894	0.63678	4.606	0.999999989407597	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	2.671000	0.46507	4.722000	0.44510	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.0:1.0:0.0:0.0	16.529	0.84200	988	0.01987	tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.022727	0.07143	2010.44	33	chr13	110683120	.	C	T	2010.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.219;DP=391;ExcessHet=0;FS=4.276;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.639;SOR=0.46	GT:AD:DP:GQ:PL	0/1:90,92:182:99:2021,0,1911	6	0	1	0
chr13	113405197	113405197	G	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.C2993T:p.T998M,LOC101928841:NM_001375393:exon2:c.C2993T:p.T998M	.	962	558	1	1	0	3	0.00268097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0006147	16	26028	rs546356323	0.0005	0.0004	0.0005	0.0005	0.0058	0.0004	0.0004	0.0037	0.0030	0.0011	0.0001	0.0053	0	0	0.0058	0.0004	0.0008	0.0006	0.0007	0.0007	0.0006	0.0007	0.0008	0.0006	0.0005	0.0006	0.0005	0.0008	0	0.0005	0.0043	0	0	0.0068	0.0005	0.0014	0.0008	.	.	.	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.06854	.	.	.	.	.	.	.	0.011453122	0.00250	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022961	0.17609	T	.	.	.	.	.	.	.	.	.	0.525248	0.17252	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.33203	B	.	.	1.015921	0.13953	10.51	0.58192260420815167	0.05937	0.07460	0.13477	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.999978826038407	0.50053	0.056701	0.00814	0	0.059962	0.00310	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0518733	0.10782	2.6	-2.7	0.05651	-2.122000	0.01408	0.561000	0.19511	-0.274000	0.06627	0.000000	0.06391	0.003000	0.18671	0.001000	0.02609	0.0:0.1976:0.3743:0.4281	4.215	0.09984	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	963.63	39	chr13	113405197	.	G	A	963.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.595;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.394;SOR=0.743	GT:AD:DP:GQ:PL	0/1:41,40:81:99:974,0,982	6	0	1	0
chr13	113405323	113405323	G	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.C2867T:p.A956V,LOC101928841:NM_001375393:exon2:c.C2867T:p.A956V	.	935	572	13	2	0	17	0.0146425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00858626	.	.	.	.	.	.	.	.	0.009144	238	26028	rs117605449	0.0115	0.0088	0.0114	0.0116	0.0159	0.0113	0.0112	0.0144	0.0139	0.0010	0.0077	0.0105	0.0001	0.0048	0.0082	0.0122	0.0105	0.0159	0.0074	0.0074	0.0075	0.0072	0.0178	0.0070	0.0069	0.0148	0.0137	0.0020	0	0.0061	0.0081	0	0.0057	0.0034	0.0110	0.0099	0.0178	.	.	.	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0036976635	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017884	0.14511	T	.	.	.	.	.	.	.	.	.	0.458954	0.13262	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31783	B	.	.	0.495224	0.08645	5.414	0.52185299493510062	0.04700	0.15857	0.19114	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999994668976826	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0720215	0.16903	3.49	1.45	0.21708	-0.018000	0.12508	-1.256000	0.05892	-0.330000	0.05784	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1035:0.1533:0.7432:0.0	8.835	0.34265	976	0.04745	.	ADPRHL1|ADPRHL1	Muscle_Skeletal|Nerve_Tibial	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	821.49	28	chr13	113405323	.	G	A	821.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.152;DP=233;ExcessHet=0;FS=0.994;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-1.028;SOR=0.487	GT:AD:DP:GQ:PL	0/1:28,33:61:99:832,0,713	6	0	1	0
chr13	113795181	113795181	G	C	exonic	TMEM255B	.	nonsynonymous SNV	TMEM255B:NM_001348663:exon4:c.G286C:p.V96L,TMEM255B:NM_182614:exon4:c.G286C:p.V96L	.	436	1000	81	4	1	90	0.0426041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	.	0.0037	0.00898562	0.0094	0.0010	0.0027	0.0001	0.0009	0.0067	0.0167	0.0377	0.0083569	1292	154602	rs150323609	0.0062	0.0062	0.0050	0.0073	0.0363	0.0060	0.0060	0.0352	0.0348	0.0009	0.0025	0.0069	0.0001	0.0007	0.0278	0.0044	0.0073	0.0363	0.0049	0.0049	0.0043	0.0056	0.0354	0.0046	0.0045	0.0311	0.0294	0.0009	0.0208	0.0030	0.0066	0.0002	0.0018	0.0170	0.0061	0.0066	0.0354	0.006	0.61437	D	0.017	0.65728	D	0.975	0.58077	D	0.584	0.50293	P	.	.	.	.	0.999994	0.58761	D	2.87	0.83286	M	0.43	0.56772	T	-2.34	0.51811	N	0.502	0.53532	-0.5375	0.67258	T	0.182	0.52934	T	9	0.0077860355	0.00177	T	.	.	.	0.324	0.64624	0.553	0.66995	0.385578977469	0.38175	0.7663973015602885	0.76588	0.250000845388	0.27578	0.656492352486	0.60908	T	0.237301	0.60496	T	-0.212264	0.19062	T	-0.0512197	0.66939	D	0.0395209149209923	0.03604	T	0.838216	0.51127	T	0.31684133	0.54372	0.35385677	0.60940	0.31684133	0.54372	0.35385677	0.60939	-9.994	0.73876	D	.	.	0.384	0.61725	A	.;.	.;.	2.309652	0.29567	18.16	0.99604973238387107	0.74456	0.92132	0.55016	D	AEFGBI	0.571454	0.57543	D	0.357397953511674	0.59132	4.090088	0.278757387613594	0.54302	3.595487	0.999999996836986	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.06	4.06	0.46572	5.500000	0.66660	5.156000	0.47774	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:1.0:0.0	15.030	0.71357	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022681	0.015152	0.014946	0.014620	0.000000	0.025862	0.021472	0.064394	0.07143	1018.46	33	chr13	113795181	.	G	C	1018.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.161;DP=307;ExcessHet=0;FS=1.494;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=0.806;SOR=0.702	GT:AD:DP:GQ:PL	0/1:69,48:117:99:1029,0,1621	6	0	1	0
chr14	20197790	20197790	T	C	exonic	OR11G2	.	nonsynonymous SNV	OR11G2:NM_001005503:exon1:c.T455C:p.F152S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0032970113309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.997	0.70673	D	0.898	0.63708	P	0.284342	0.14886	N	0.595326	0.966942	0.25871	N	0.485	0.13215	N	4.98	0.01344	T	-6.72	0.92561	D	0.519	0.54932	-1.0620	0.11263	T	0.016	0.06329	T	10	0.26372594	0.43853	T	0.003297	0.07329	T	0.153	0.40148	0.419	0.46036	0.707991828018	0.70544	0.2828032169026338	0.28193	0.519446559066	0.49770	0.26745018363	0.05810	T	0.046284	0.27377	T	-0.110535	0.34681	T	-0.396553	0.33787	T	0.9815753698349	0.73989	D	0.611339	0.25265	T	0.78225386	0.82792	0.80513203	0.88592	0.78225386	0.82794	0.80513203	0.88593	-7.571	0.58108	D	.	.	0.615	0.69497	P	.;.;.	.;.;.	4.488765	0.70096	25.5	0.9984110964259294	0.92143	0.78996	0.39064	D	AEFBHCI	0.551946	0.56380	D	0.471160689873154	0.65414	4.819377	0.419918470374182	0.62805	4.502508	0.829266799314032	0.24663	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	2.555000	0.45515	0.645000	0.20357	0.651000	0.53179	0.106000	0.22914	0.003000	0.18671	0.966000	0.53164	0.0:0.0:0.0:1.0	13.704	0.62109	970	0.06235	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	.	.	.	.	.	.	.	.	0.07143	2761.44	112	chr14	20197790	.	T	C	2761.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.267;DP=925;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=1.8;SOR=0.663	GT:AD:DP:GQ:PL	0/1:90,105:195:99:2772,0,2319	6	0	1	0
chr14	23042569	23042569	G	A	exonic	PSMB11	.	nonsynonymous SNV	PSMB11:NM_001099780:exon1:c.G344A:p.R115Q	.	424	1090	7	1	0	9	0.00411147	.	.	.	2810269	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.100	0.0225218444397	0.0012	0.000798722	0.0018	0.0007	0.0005	0.0020	0.0009	0.0021	0.0022	0.0025	0.0017529	271	154602	rs202220440	0.0019	0.0019	0.0019	0.0020	0.0028	0.0019	0.0019	0.0025	0.0024	0.0003	0.0007	3.828e-05	0.0009	0.0007	0.0021	0.0022	0.0011	0.0028	0.0014	0.0014	0.0013	0.0015	0.0037	0.0013	0.0012	0.0024	0.0020	0.0006	0	0.0005	0.0003	0.0013	9.409e-05	0	0.0022	0.0009	0.0037	0.04	0.42199	D	0.032	0.53426	D	0.971	0.57185	D	0.59	0.50460	P	0.000822	0.41547	D	0.174739	0.950041	0.26517	N	0.55	0.14455	N	1.97	0.22067	T	0.38	0.03579	N	0.273	0.30914	-1.0875	0.05960	T	0.046	0.19680	T	10	0.0143787265	0.00303	T	0.022522	0.45416	T	0.100	0.28662	.	.	0.580281640613	0.57699	0.5769268162885889	0.57621	0.595449407768	0.54820	0.467669606209	0.34360	T	0.043697	0.26582	T	-0.495346	0.00607	T	-0.489233	0.23473	T	0.0223918970949931	0.00953	T	0.916508	0.70155	D	0.19990437	0.41946	0.12512404	0.30151	0.19990437	0.41946	0.12512404	0.30150	-2.607	0.06556	T	.	.	0.104	0.18663	B	.	.	4.707604	0.75589	26.4	0.99949124476078999	0.99931	0.66253	0.33014	D	AEFDBCI	0.221739	0.34632	N	0.333856847966125	0.57894	3.958678	0.396283842639736	0.61335	4.332199	0.999999718240746	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.24	5.24	0.72863	2.898000	0.48370	9.989000	0.82972	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.835:0.165	12.689	0.56329	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	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.007576	0.07143	2982.63	37	chr14	23042569	.	G	A	2982.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.75;DP=394;ExcessHet=0;FS=2.395;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=0.388;SOR=0.534	GT:AD:DP:GQ:PL	0/1:95,111:206:99:2993,0,2331	6	0	1	0
chr14	24148333	24148333	G	A	exonic	RNF31	.	nonsynonymous SNV	RNF31:NM_017999:exon3:c.G415A:p.E139K	.	424	1092	6	0	0	6	0.00273973	.	.	.	1157209	RNF31-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.050	0.00449333060535	0.0041	0.000599042	0.0043	0.0011	0.0017	0	0.0039	0.0066	0.0067	0.0010	0.0001537	4	26028	rs45466595	0.0051	0.0051	0.0052	0.0051	0.0060	0.0050	0.0050	0.0059	0.0059	0.0007	0.0015	0.0030	0	0.0047	0.0009	0.0060	0.0045	0.0012	0.0037	0.0037	0.0037	0.0037	0.0059	0.0034	0.0033	0.0054	0.0052	0.0008	0	0.0034	0.0035	0	0.0044	0	0.0059	0.0043	0.0017	0.77	0.05755	T	0.478	0.11968	T	0.0	0.02946	B	0.003	0.08700	B	0.169252	0.17424	N	0.600532	0.867607	0.35502	D	0.895	0.22405	L	0.97	0.42502	T	-1.16	0.29727	N	0.173	0.18512	-1.0199	0.23747	T	0.029	0.12497	T	10	0.004817933	0.00102	T	0.004493	0.11031	T	0.050	0.13987	.	.	0.646533681015	0.64360	0.26789607209610267	0.26702	0.260892133975	0.28649	0.345701277256	0.17287	T	0.092843	0.39089	T	-0.492457	0.00630	T	-0.476571	0.24812	T	0.00166204315911347	0.00017	T	.	.	.	0.25537857	0.48571	0.13638444	0.32628	0.31315637	0.54058	0.09928067	0.23697	-4.387	0.29381	T	.	.	0.079	0.07083	B	.;.	.;.	2.164669	0.27584	17.51	0.85568940474534094	0.15974	0.13964	0.18148	N	AEFDGBCI	0.089747	0.18191	N	-0.920665768487582	0.10360	0.4946604	-0.825602564307954	0.13875	0.7221413	0.999988052908587	0.51787	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.31	1.08	0.19456	-0.086000	0.11198	2.648000	0.33797	0.676000	0.76740	0.244000	0.24789	1.000000	0.68203	0.955000	0.50612	0.3582:0.2248:0.417:0.0	4.979	0.13504	894	0.26265	PUB domain;PUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1907.49	33	chr14	24148333	.	G	A	1907.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.781;DP=300;ExcessHet=0;FS=0.699;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=-0.715;SOR=0.578	GT:AD:DP:GQ:PL	0/1:47,72:119:99:1918,0,1078	6	0	1	0
chr14	37749377	37749385	GAGTGCCAT	-	exonic	TTC6	.	nonframeshift deletion	TTC6:NM_001310135:exon13:c.2850_2858del:p.S951_M953del	.	437	1084	0	1	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0007	3.84e-05	1	26028	rs774394046	2.451e-05	2.805e-05	1.045e-05	3.933e-05	0.0005	1.774e-05	1.518e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.673e-05	0.0005	1.969e-05	1.968e-05	0	4.028e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	887.5	13	chr14	37749376	.	AGAGTGCCAT	A	887.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.204;DP=155;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.65;ReadPosRankSum=0.285;SOR=0.593	GT:AD:DP:GQ:PL	0/1:12,24:36:99:898,0,432	6	0	1	0
chr14	44903212	44903212	C	T	exonic	C14orf28	.	nonsynonymous SNV	C14orf28:NM_001017923:exon3:c.C530T:p.P177L	.	.	.	.	.	.	.	.	.	.	.	739212	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.357	.	0.0039	0.00379393	0.0013	0.0144	0.0006	0	0	0	0.0011	0.0002	0.001229	190	154602	rs115254671	0.0004	0.0004	0.0005	0.0004	0.0155	0.0004	0.0004	0.0144	0.0139	0.0155	0.0007	0	0	0	0.0007	1.808e-06	0.0010	9.296e-05	0.0042	0.0042	0.0041	0.0043	0.0151	0.0039	0.0038	0.0141	0.0137	0.0151	0	0.0005	0	0	0	0	1.471e-05	0.0019	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.975	0.24501	L	1.0	0.41392	T	-6.67	0.92346	D	0.768	0.76573	-0.8795	0.49801	T	0.092	0.35038	T	10	0.0099155605	0.00222	T	.	.	.	0.357	0.67782	.	.	0.531873083431	0.52836	0.6841961515301836	0.68358	0.304225670694	0.32734	.	.	.	0.140449	0.47500	T	-0.421794	0.01666	T	-0.365681	0.37394	T	0.0539404993852956	0.06179	T	0.918208	0.70605	D	0.69255346	0.77650	0.68390566	0.81417	0.69255346	0.77651	0.68390566	0.81418	-1.656	0.02117	T	.	.	0.153	0.33800	B	.	.	4.492572	0.70188	25.5	0.99556377538141794	0.71459	0.95863	0.66478	D	AEFBI	0.635120	0.61474	D	0.624555719015772	0.74732	6.182742	0.667065873920911	0.79886	7.178378	0.999998257365915	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.68	5.68	0.88021	5.985000	0.70235	7.681000	0.65292	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	17.285	0.87026	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	270.27	35	chr14	44903212	.	C	T	270.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.237;DP=196;ExcessHet=0;FS=1.446;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.2;SOR=1.179	GT:AD:DP:GQ:PL	0/1:18,13:31:99:280,0,513	5	0	1	1
chr14	49635006	49635006	G	T	exonic	DNAAF2	.	nonsynonymous SNV	DNAAF2:NM_001083908:exon1:c.C144A:p.N48K,DNAAF2:NM_018139:exon1:c.C144A:p.N48K	Ciliary dyskinesia, primary, 10	0	1521	1	0	0	1	0.000328623	.	.	.	230532	not_specified|Primary_ciliary_dyskinesia_10|not_provided|Primary_ciliary_dyskinesia	MedGen:CN169374|MONDO:MONDO:0012918,MedGen:C2675867,OMIM:612518,Orphanet:244|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.193	.	0.0076	0.0105831	0.0042	0.0521	0.0022	0	0	0	0.0048	0	0.0017917	277	154602	rs116185352	0.0010	0.0010	0.0011	0.0009	0.0359	0.0009	0.0009	0.0342	0.0335	0.0359	0.0018	0	0	0	0.0016	1.928e-05	0.0020	9.921e-05	0.0099	0.0099	0.0100	0.0097	0.0336	0.0095	0.0093	0.0321	0.0315	0.0336	0	0.0054	0	0	0	0	0.0001	0.0071	0.0006	0.0	0.91255	D	0.02	0.58613	D	0.976	0.70673	D	0.975	0.73362	D	.	.	.	.	0.99991	0.51042	D	2.795	0.81503	M	2.2	0.18570	T	-4.97	0.82063	D	0.48	0.55106	-1.1440	0.01216	T	0.019	0.08033	T	9	0.008877128	0.00201	T	.	.	.	0.193	0.47281	0.493	0.58048	0.707680943951	0.70513	0.9094305641444732	0.90917	1.54673122755	0.87836	0.637837529182	0.58256	T	0.078779	0.35972	T	-0.493998	0.00618	T	-0.456608	0.26969	T	0.0652754912529847	0.07971	T	0.763624	0.39853	T	0.6265997	0.74117	0.7193418	0.83430	0.67007583	0.76439	0.8113271	0.88985	-11.211	0.80802	D	0.8523139721207247	0.91812	0.831	0.78761	P	.;.	.;.	3.901668	0.56841	23.8	0.9950414687274185	0.68206	0.27205	0.23212	N	ALL	0.413366	0.48307	N	0.313953089041447	0.56863	3.851925	0.190350729824431	0.49318	3.136335	0.9999999999988	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.56214	0.19341	0	.	.	5.09	3.19	0.35720	1.431000	0.34534	4.302000	0.42943	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.08:0.3322:0.5878:0.0	9.803	0.39945	840	0.37365	PIH1 domain|PIH1 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001515	0.005263	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1335.27	36	chr14	49635006	.	G	T	1335.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.778;DP=286;ExcessHet=0;FS=1.728;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.992;SOR=0.922	GT:AD:DP:GQ:PL	0/1:36,56:92:99:1345,0,809	5	0	1	1
chr14	59870585	59870585	C	G	exonic	RTN1	.	nonsynonymous SNV	RTN1:NM_021136:exon1:c.G46C:p.G16R	.	421	1090	11	0	0	11	0.00502054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	.	0.00978435	0.0231	0	0.0125	0	.	0	0	0.0318	0.001824	282	154602	rs570826259	0.0016	0.0016	0.0009	0.0024	0.0287	0.0016	0.0015	0.0276	0.0272	3.812e-05	0	0	0	0	0.0020	1.061e-05	0.0019	0.0287	0.0012	0.0012	0.0006	0.0018	0.0361	0.0010	0.0010	0.0317	0.0300	2.406e-05	0	0	0	0	0	0	1.471e-05	0.0009	0.0361	0.003	0.68238	D	0.063	0.45110	T	0.435	0.35719	B	0.19	0.36341	B	0.695167	0.06169	U	1.162910	0.999999	0.08975	N	0.55	0.14455	N	1.86	0.24285	T	-0.6	0.17834	N	0.148	0.15046	-0.9714	0.36904	T	0.031	0.13418	T	10	0.0022101104	0.00032	T	.	.	.	0.095	0.27398	0.161	0.06507	.	.	0.15014116825138682	0.14936	0.292628249788	0.31682	0.728659570217	0.71310	T	0.004953	0.04374	T	-0.648119	0.00074	T	-0.683483	0.06773	T	0.161144373725689	0.17955	T	0.467953	0.13790	T	0.14947313	0.34075	0.13359398	0.32032	0.14947313	0.34074	0.13359398	0.32031	-4.453	0.30269	T	.	.	0.164	0.36154	B	.	.	1.704959	0.21711	15.32	0.91291234376307029	0.20551	0.03979	0.09393	N	AEFDGBCI	0.032354	0.03640	N	-1.36847007556495	0.02938	0.1305003	-1.47536513287037	0.02548	0.1173674	0.999999999561284	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.86	-7.72	0.01112	-0.425000	0.07085	-0.022000	0.12912	-1.188000	0.01378	0.027000	0.20232	0.048000	0.21764	0.827000	0.38976	0.2309:0.611:0.0:0.1581	6.362	0.20638	548	0.72362	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002037	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.026316	0.08333	225.27	17	chr14	59870585	.	C	G	225.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.55;DP=157;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.522;SOR=0.755	GT:AD:DP:GQ:PL	0/1:13,11:24:99:235,0,244	5	0	1	1
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1374.13	79	chr14	64158707	.	T	C	1374.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.054;DP=715;ExcessHet=4.7409;FS=173.002;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=1.38;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,27:127:99:.:.:308,0,3018:.	2	0	5	0
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1271.28	79	chr14	64158708	.	G	A	1271.28	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.023;DP=596;ExcessHet=4.7409;FS=185.58;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.83;ReadPosRankSum=-0.124;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,24:127:99:.:.:278,0,3036:.	3	0	4	0
chr14	74239929	74239929	C	T	exonic	VSX2	.	nonsynonymous SNV	VSX2:NM_182894:exon1:c.C368T:p.S123L	Microphthalmia with coloboma 3;Microphthalmia, isolated 2	1	1520	1	0	0	1	0.000328839	0.9997	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.576045237992	.	.	0.0003	0	0	0	0	0.0001	0.0063	0.0004	5.17e-05	8	154602	rs757242912	4.111e-05	4.515e-05	1.402e-05	6.883e-05	0.0006	3.225e-05	2.949e-05	0.0005	0.0005	0	0	0	0	0	0.0005	0	6.85e-05	0.0006	3.282e-05	3.281e-05	0	6.712e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.015	0.52492	D	0.013	0.63109	D	0.997	0.70673	D	0.676	0.53321	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	-2.96	0.91956	D	-3.16	0.64246	D	0.166	0.17553	0.404	0.89152	D	0.711	0.90068	D	10	0.2977357	0.47333	T	0.576045	0.96184	D	0.524	0.79825	0.195	0.10705	0.88667497979	0.88555	0.4907909374364553	0.48999	0.326278888782	0.34779	0.829932570457	0.86551	D	0.677826	0.90507	D	-0.127125	0.31961	T	-0.0445378	0.67393	D	0.29497355222702	0.24796	T	0.826617	0.49005	T	0.45428187	0.64312	0.47148636	0.69357	0.45428187	0.64313	0.47148636	0.69358	-8.081	0.61621	D	0.2820838665103733	0.37754	0.329	0.55145	B	.	.	6.110320	0.94584	34	0.99894052144239576	0.96742	0.98123	0.79794	D	AEFDBCI	0.724833	0.67401	D	0.487570306832843	0.66361	4.940457	0.518935772936936	0.69263	5.335811	0.999999999689802	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.65	4.65	0.57626	4.042000	0.57058	7.520000	0.59748	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.472	0.75180	612	0.66786	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	812.65	16	chr14	74239929	.	C	T	812.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.064;DP=151;ExcessHet=0.3476;FS=5.176;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=3.26;SOR=0.275	GT:AD:DP:GQ:PL	0/1:12,21:33:99:500,0,223	5	0	2	0
chr14	74856817	74856819	TTG	-	exonic	PROX2	.	nonframeshift deletion	PROX2:NM_001080408:exon4:c.909_911del:p.N303del,PROX2:NM_001243007:exon5:c.1590_1592del:p.N530del,PROX2:NM_001384314:exon6:c.1590_1592del:p.N530del	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0	0	0	1.501e-05	0.0022	0.0010	0.0001358	21	154602	rs772990067	8.142e-05	8.14e-05	2.723e-05	0.0001	0.0013	6.936e-05	6.488e-05	0.0011	0.0010	0	0	0	0	0	0.0002	2.698e-06	6.626e-05	0.0013	5.91e-05	5.906e-05	1.285e-05	0.0001	0.0017	3.076e-05	2.209e-05	0.0008	0.0006	2.406e-05	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.1429	4498.22	34	chr14	74856816	.	CTTG	C	4498.22	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.608;DP=416;ExcessHet=0.3476;FS=2.777;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=0.854;SOR=0.542	GT:AD:DP:GQ:PL	0/1:65,48:113:99:1774,0,2564	5	0	2	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	179.76	98	chr14	78297852	.	G	A	179.76	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-3.871;DP=784;ExcessHet=3.1439;FS=249.645;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=0.689;SOR=10.919	GT:AD:DP:GQ:PL	0/1:102,40:155:21:21,0,1655	2	0	4	1
chr14	91669860	91669860	A	G	exonic	CATSPERB	.	nonsynonymous SNV	CATSPERB:NM_024764:exon14:c.T1241C:p.M414T	.	420	1101	1	0	0	1	0.000453926	.	.	.	2399560	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.268	0.0910598412092	.	.	0.0001	9.61e-05	0	0	0	0.0002	0.0011	0.0002	0.00011	17	154602	rs761392469	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.978e-05	0	0	0	0.0001	0	0.0002	6.624e-05	0.0003	7.876e-05	7.874e-05	6.423e-05	9.395e-05	0.0004	4.492e-05	3.509e-05	7.29e-05	4.239e-05	4.81e-05	0	0	0	0	0	0	0.0001	0	0.0004	0.002	0.72154	D	0.0	0.92824	D	0.991	0.64070	D	0.883	0.62698	P	0.000782	0.41772	D	0.172110	0.580059	0.31107	N	2.615	0.76484	M	0.59	0.53943	T	-4.05	0.74504	D	0.698	0.70263	-0.3712	0.72925	T	0.263	0.63383	T	10	0.75405896	0.75849	D	0.09106	0.75635	D	0.268	0.58254	.	.	0.684832038806	0.68214	0.6427704699335214	0.64212	0.771076726515	0.64765	0.605897784233	0.53737	T	0.234535	0.60158	T	-0.110521	0.34681	T	-0.0962086	0.63690	T	0.795350730419159	0.46041	D	.	.	.	0.5754796	0.71361	0.7068316	0.82715	0.5754796	0.71362	0.7068316	0.82715	-7.125	0.54941	T	.	.	0.883	0.81653	P	.	.	4.341453	0.66608	25.0	0.98296413915154712	0.40002	0.82700	0.41892	D	AEFDCI	0.433491	0.49493	N	0.540852025194092	0.69526	5.36962	0.524519015773202	0.69644	5.389918	0.746026594310107	0.23286	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	4.497000	0.60088	10.922000	0.84241	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	1.0:0.0:0.0:0.0	12.142	0.53309	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	831.44	33	chr14	91669860	.	A	G	831.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.66;DP=249;ExcessHet=0;FS=8.785;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.296;SOR=0.194	GT:AD:DP:GQ:PL	0/1:31,36:67:99:842,0,840	6	0	1	0
chr14	91993832	91993832	C	G	exonic	TRIP11	.	nonsynonymous SNV	TRIP11:NM_001321851:exon15:c.G5134C:p.E1712Q,TRIP11:NM_004239:exon15:c.G5137C:p.E1713Q	Achondrogenesis, type IA, Autosomal recessive	112	1405	3	2	0	7	0.00248491	.	.	.	191669	Connective_tissue_disorder|Achondrogenesis,_type_IA|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0008701,MedGen:C0265273,OMIM:200600,Orphanet:932,Orphanet:93299|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.074	0.0210061433509	0.0025	0.000798722	0.0023	0.0005	0.0012	0	0.0034	0.0034	0	0.0006	0.0020828	322	154602	rs137974620	0.0026	0.0027	0.0027	0.0026	0.0031	0.0026	0.0025	0.0029	0.0029	0.0004	0.0012	0.0015	0	0.0038	0.0031	0.0030	0.0026	0.0007	0.0022	0.0023	0.0022	0.0022	0.0030	0.0020	0.0020	0.0026	0.0025	0.0005	0.0716	0.0010	0.0009	0	0.0025	0.0034	0.0030	0.0028	0.0008	0.038	0.42783	D	0.061	0.45530	T	0.984	0.60733	D	0.902	0.64047	P	0.000000	0.84330	N	0.050641	0.99791	0.44315	D	1.52	0.38360	L	3.54	0.04799	T	-1.26	0.31778	N	0.27	0.30574	-0.4787	0.69414	T	0.277	0.64865	T	10	0.006249875	0.00141	T	0.021006	0.43710	T	0.133	0.36157	.	.	0.431602765429	0.42780	0.22064316349525712	0.21979	0.390152499004	0.40238	0.333794534206	0.15506	T	0.03861	0.24899	T	-0.494867	0.00611	T	-0.485725	0.23840	T	0.106919296085835	0.13101	T	0.810219	0.46129	T	0.26895964	0.49968	0.15852216	0.37015	0.26895964	0.49967	0.15852216	0.37014	-3.068	0.10932	T	0.16689296227325368	0.20777	0.089	0.12323	B	.	.	3.105605	0.41874	21.4	0.99705246636662526	0.80936	0.92528	0.55923	D	AEFBI	0.379615	0.46257	N	0.287237390604448	0.55502	3.714132	0.327016284453092	0.57134	3.878043	0.998917145053047	0.37962	0.732398	0.92422	0	0.708844	0.79440	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.41	4.51	0.54589	3.274000	0.51334	4.013000	0.41180	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.988000	0.63387	0.0:0.8575:0.1425:0.0	15.101	0.71950	657	0.62240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	738.49	35	chr14	91993832	.	C	G	738.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.432;DP=266;ExcessHet=0;FS=4.348;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=1.45;SOR=0.865	GT:AD:DP:GQ:PL	0/1:45,35:80:99:749,0,1067	6	0	1	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*73,ATXN3:NM_001164774:exon3:c.232_233insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G78Afs*73,ATXN3:NM_001164777:exon3:c.112_113insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G38Afs*73,ATXN3:NM_001164776:exon4:c.277_278insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G93Afs*73,ATXN3:NM_001164778:exon6:c.430_431insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G144Afs*73,ATXN3:NM_001164779:exon6:c.552_553insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G185Qfs*41,ATXN3:NM_001164780:exon7:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G127Qfs*41,ATXN3:NM_001127697:exon8:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G255Qfs*41,ATXN3:NM_001164781:exon8:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G236Qfs*41,ATXN3:NM_001127696:exon9:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G291Qfs*41,ATXN3:NM_030660:exon9:c.750_751insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G251Qfs*41,ATXN3:NM_004993:exon10:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G306Qfs*41	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0010	0.0009	0.0010	0.0126	0.0009	0.0009	0.0116	0.0112	0.0026	0.0006	0.0002	0.0126	0.0005	0.0017	0.0004	0.0015	0.0017	0.0030	0.0031	0.0029	0.0031	0.0153	0.0028	0.0027	0.0125	0.0114	0.0062	0	0.0019	0.0006	0.0153	0.0002	0	0.0012	0.0020	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7249.72	30	chr14	92071010	.	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	7249.72	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.904;DP=400;ExcessHet=2.5225;FS=0.72;MLEAC=1;MLEAF=0.071;MQ=59.86;MQRankSum=0;QD=29.71;ReadPosRankSum=0.265;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,12:26:99:.:.:2467,660,505:.	6	0	1	0
chr14	94284024	94284024	C	T	exonic	SERPINA10	.	nonsynonymous SNV	SERPINA10:NM_001100607:exon5:c.G1276A:p.E426K,SERPINA10:NM_016186:exon5:c.G1276A:p.E426K	.	427	1069	25	1	0	27	0.0124711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.611	.	0.0003	0.00299521	0.0020	9.612e-05	0.0008	0	0.0003	0.0004	0.0033	0.0126	0.0017982	278	154602	rs145648775	0.0011	0.0011	0.0006	0.0015	0.0133	0.0010	0.0010	0.0127	0.0124	2.987e-05	0.0003	0.0003	5.038e-05	9.36e-05	0.0038	0.0003	0.0010	0.0133	0.0008	0.0008	0.0005	0.0012	0.0164	0.0007	0.0007	0.0135	0.0124	0.0002	0	0.0007	0	0	9.427e-05	0.0034	0.0005	0	0.0164	0.021	0.56456	D	0.036	0.53072	D	0.998	0.73220	D	0.917	0.65306	D	0.000004	0.62929	D	0.000000	0.998659	0.48408	D	2.115	0.58683	M	-2.41	0.88533	D	-2.7	0.57599	D	0.257	0.34659	0.690	0.93049	D	0.779	0.92492	D	10	0.0064769983	0.00147	T	.	.	.	0.611	0.84773	.	.	0.892773738801	0.89171	0.6828012008231884	0.68219	0.162893000959	0.18384	0.378734469414	0.22077	T	0.377743	0.74087	T	-0.114024	0.34105	T	0.0744667	0.75208	D	0.0595708028641465	0.07101	T	0.746525	0.36724	T	0.8849335	0.90077	0.7381103	0.84521	0.8849335	0.90079	0.7381103	0.84522	-8.826	0.66570	D	.	.	0.182	0.55201	B	.;.;.;.	.;.;.;.	3.740567	0.53561	23.4	0.99892103190004844	0.96589	0.86037	0.45245	D	AEFBI	0.533762	0.55308	D	0.365894956527431	0.59584	4.13897	0.273811328633932	0.54015	3.56789	0.997626442340196	0.35831	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.7	4.81	0.61401	2.114000	0.41535	2.219000	0.31434	0.454000	0.21428	1.000000	0.71638	0.978000	0.30204	0.982000	0.59238	0.0:0.9305:0.0:0.0695	14.634	0.68280	923	0.18507	Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003535	0.000000	0.002717	0.002924	0.000000	0.000000	0.009317	0.000000	0.2143	2027.72	33	chr14	94284024	.	C	T	2027.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.318;DP=229;ExcessHet=0;FS=2.365;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=23.04;ReadPosRankSum=-0.42;SOR=0.43	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1814,183,0	5	1	1	0
chr14	94379513	94379513	C	T	exonic	SERPINA1	.	nonsynonymous SNV	SERPINA1:NM_000295:exon4:c.G1016A:p.G339E,SERPINA1:NM_001002235:exon4:c.G1016A:p.G339E,SERPINA1:NM_001127700:exon4:c.G1016A:p.G339E,SERPINA1:NM_001127702:exon5:c.G1016A:p.G339E,SERPINA1:NM_001127706:exon5:c.G1016A:p.G339E,SERPINA1:NM_001127707:exon5:c.G1016A:p.G339E,SERPINA1:NM_001002236:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127701:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127703:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127704:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127705:exon6:c.G1016A:p.G339E	Emphysema due to AAT deficiency, Autosomal recessive;Emphysema-cirrhosis, due to AAT deficiency, Autosomal recessive;Hemorrhagic diathesis due to antithrombin Pittsburgh, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.015284713241	.	.	.	.	.	.	.	.	.	.	0.0252805	658	26028	rs186298255	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.405e-05	0.0081	2.626e-05	0.0001	0.0002	4.066e-05	3.196e-05	5.533e-05	2.903e-05	2.445e-05	0	0.0002	0	0.0002	0.0004	0	1.502e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.004	0.10090	B	0.201876	0.03325	N	1.632050	1	0.08975	N	-0.055	0.04927	N	-1.63	0.82440	D	1.6	0.00652	N	0.084	0.06059	-0.7416	0.58370	T	0.175	0.51816	T	10	0.06385669	0.08383	T	0.015285	0.35936	T	0.152	0.39956	0.358	0.36060	0.708489977135	0.70594	0.28805864301383166	0.28718	0.0536714916649	0.05925	0.246817171574	0.03440	T	0.12283	0.44678	T	-0.214714	0.18721	T	-0.546198	0.17693	T	0.0226976832768117	0.00987	T	0.0435956	0.00682	T	0.099375755	0.23451	0.08960794	0.20963	0.099375755	0.23451	0.08960794	0.20963	-2.39	0.25083	T	0.10573163998153827	0.08417	0.074	0.11510	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-1.212546	0.00518	0.012	0.47182625122801897	0.03837	0.02891	0.07678	N	AEFDBHCI	0.440912	0.49928	N	-1.78089906355498	0.00593	0.025575	-1.76931647493546	0.00863	0.03855153	0.99999997204157	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.38	-8.5	0.00808	-2.165000	0.01360	-20.000000	0.00162	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.320000	0.24970	0.0:0.1294:0.2015:0.6691	10.136	0.41880	917	0.20147	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	55.97	66	chr14	94379513	.	C	T	55.97	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.26;DP=411;ExcessHet=0.4139;FS=7.708;MLEAC=2;MLEAF=0.167;MQ=59.87;MQRankSum=0;QD=0.26;ReadPosRankSum=1.78;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,11:150:43:0|1:94379487_CCT_C:43,0,5783:94379487	4	0	2	1
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1661.77	55	chr14	94497802	.	C	T	1661.77	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.85;DP=480;ExcessHet=3.1439;FS=488.847;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.4;ReadPosRankSum=0.495;SOR=10.1	GT:AD:DP:GQ:PL	0/1:60,52:112:99:510,0,752	1	0	4	2
chr14	96552583	96552583	C	T	exonic	PAPOLA	.	nonsynonymous SNV	PAPOLA:NM_001293632:exon15:c.C875T:p.T292M,PAPOLA:NM_001293627:exon17:c.C1625T:p.T542M,PAPOLA:NM_001293628:exon17:c.C875T:p.T292M,PAPOLA:NM_001363662:exon17:c.C1625T:p.T542M,PAPOLA:NM_001363664:exon17:c.C1625T:p.T542M,PAPOLA:NM_001363665:exon17:c.C1625T:p.T542M,PAPOLA:NM_001363666:exon17:c.C1625T:p.T542M,PAPOLA:NM_032632:exon17:c.C1625T:p.T542M	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00359582038131	7.7e-05	.	9.063e-05	9.61e-05	0	0	0.0002	0	0	0.0005	8.41e-05	13	154602	rs373881128	6.089e-05	6.088e-05	2.587e-05	9.626e-05	0.0008	5.028e-05	4.672e-05	0.0006	0.0006	8.961e-05	2.236e-05	0	0	7.489e-05	0	7.195e-06	6.624e-05	0.0008	6.569e-05	6.563e-05	3.856e-05	9.407e-05	0.0008	3.516e-05	2.616e-05	0.0003	0.0002	4.815e-05	0	0.0001	0	0	9.454e-05	0	1.47e-05	0	0.0008	0.356	0.15098	T	0.406	0.16865	T	0.014	0.16867	B	0.002	0.06944	B	0.001971	0.37549	N	0.304354	0.944026	0.37432	D	-0.935	0.01286	N	.	.	.	-0.47	0.16799	N	0.205	0.25253	-1.0676	0.09948	T	0.080	0.31675	T	9	0.02106753	0.00497	T	0.003596	0.08216	T	0.033	0.08068	.	.	0.102598925029	0.09809	0.18039348692865803	0.17958	0.298742333184	0.32256	0.346822410822	0.17453	T	0.02468	0.18600	T	-0.400478	0.02299	T	-0.452241	0.27448	T	0.0452862188827909	0.04653	T	0.381962	0.09278	T	0.016170796	0.00181	0.03270231	0.02046	0.016170796	0.00180	0.03270231	0.02046	-5.437	0.41274	T	.	.	0.044	0.00444	B	.;.;.	.;.;.	1.707240	0.21744	15.33	0.94759740091402855	0.25468	0.37654	0.25810	N	AEFBI	0.131586	0.25058	N	-0.553021150475062	0.20389	1.074473	-0.363997582059206	0.26079	1.438231	0.999375907477574	0.39355	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	2.99	0.33673	1.671000	0.37129	1.539000	0.27214	-0.181000	0.10308	1.000000	0.71638	0.975000	0.29991	0.997000	0.79791	0.0:0.2351:0.0:0.7649	7.766	0.28145	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	.	.	.	.	.	.	.	.	0.07143	1386.45	33	chr14	96552583	.	C	T	1386.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.14;DP=312;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.044;SOR=0.711	GT:AD:DP:GQ:PL	0/1:66,60:126:99:1397,0,1372	6	0	1	0
chr14	102923968	102923968	G	A	exonic	AMN	.	nonsynonymous SNV	AMN:NM_030943:exon3:c.G196A:p.V66I	Megaloblastic anemia-1, Norwegian type, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	2899945	Imerslund-Grasbeck_syndrome	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.119	0.0964229197746	.	.	0.0001	0	0	0	0	1.517e-05	0.0011	0.0007	8.41e-05	13	154602	rs772996972	7.05e-05	7.046e-05	2.179e-05	0.0001	0.0011	5.917e-05	5.526e-05	0.0010	0.0009	0	0	0	0	0	0	2.698e-06	3.312e-05	0.0011	6.565e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.190967	0.16847	N	0.567800	1	0.08975	N	0.22	0.09567	N	-2.17	0.86624	D	-0.05	0.07736	N	0.087	0.06454	-0.7881	0.55840	T	0.204	0.56197	T	10	0.020163268	0.00460	T	0.096423	0.76599	D	0.119	0.33137	0.407	0.44066	0.298056030225	0.29408	0.17009147244389838	0.16929	0.412122410975	0.41960	0.562514305115	0.47621	T	0.174319	0.52350	T	-0.454018	0.01069	T	-0.518856	0.20410	T	0.00818082211464759	0.00098	T	0.442056	0.12263	T	0.08742732	0.20358	0.08627383	0.19977	0.05291946	0.09939	0.078499645	0.17588	-4.553	0.31576	T	0.1074958959097036	0.08756	0.077	0.06205	B	.	.	-0.770842	0.01165	0.056	0.82215491544216324	0.14077	0.00770	0.03176	N	AEFDBIJ	0.080559	0.16289	N	-1.55839731382595	0.01486	0.06487385	-1.57807441615319	0.01790	0.08146155	0.999500205540665	0.40062	0.59774	0.34471	0	0.627178	0.54094	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.14	-2.9	0.05310	-0.995000	0.03823	-3.413000	0.02806	-0.255000	0.07062	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.4159:0.0:0.4093:0.1748	3.415	0.06944	495	0.76383	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	950.49	29	chr14	102923968	.	G	A	950.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.712;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.64;SOR=0.724	GT:AD:DP:GQ:PL	0/1:25,38:63:99:961,0,557	6	0	1	0
chr14	103110066	103110066	G	A	exonic	EXOC3L4	.	nonsynonymous SNV	EXOC3L4:NM_001077594:exon11:c.G2012A:p.R671Q	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0134043935849	7.8e-05	.	0.0002	0	0.0001	0	0	5.916e-05	0	0.0012	0.0001423	22	154602	rs141612043	6.765e-05	8.003e-05	4.39e-05	9.172e-05	0.0010	5.68e-05	5.219e-05	0.0008	0.0007	0	2.308e-05	0	0	0	0.0002	9.037e-06	6.691e-05	0.0010	6.566e-05	6.561e-05	2.57e-05	0.0001	0.0012	3.514e-05	2.614e-05	0.0005	0.0004	0	0	6.533e-05	0	0	0	0	4.41e-05	0	0.0012	0.157	0.23997	T	0.079	0.42086	T	0.999	0.77913	D	0.933	0.66815	D	0.005820	0.32491	N	0.242209	1	0.08975	N	2.4	0.69460	M	3.32	0.06214	T	-1.15	0.29525	N	0.478	0.51315	-1.0941	0.04884	T	0.036	0.15422	T	10	0.1039812	0.19146	T	0.013404	0.32774	T	0.188	0.46444	.	.	0.288352970974	0.28455	0.2781006840541033	0.27723	0.256068172782	0.28184	0.486868977547	0.37005	T	0.021409	0.16677	T	-0.456864	0.01028	T	-0.479471	0.24503	T	0.166813598446301	0.18360	T	0.845015	0.52334	T	0.058510125	0.11779	0.07581492	0.16729	0.058510125	0.11779	0.07581492	0.16728	-4.005	0.23878	T	.	.	0.155	0.34250	B	.	.	3.809279	0.54931	23.5	0.99478563978974954	0.66741	0.00671	0.02892	N	ALL	0.165093	0.29156	N	0.0848349124193065	0.45756	2.826844	-0.0704879363541698	0.36616	2.133215	1.0	0.98316	0.615755	0.39536	0	0.576064	0.32778	0	0.687007	0.62461	0	0.526803	0.08958	0	.	.	4.05	3.15	0.35301	1.820000	0.38670	5.516000	0.48810	0.676000	0.76740	0.057000	0.21666	0.984000	0.30665	0.042000	0.14466	0.123:0.0:0.877:0.0	7.001	0.23988	643	0.63827	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1373.83	33	chr14	103110066	.	G	A	1373.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=335;ExcessHet=0;FS=3.059;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=1.1;SOR=1.102	GT:AD:DP:GQ:PL	0/1:33,49:82:99:1384,0,821	6	0	1	0
chr14	104801667	104801667	C	T	exonic	ZBTB42	.	nonsynonymous SNV	ZBTB42:NM_001137601:exon1:c.C470T:p.A157V,ZBTB42:NM_001370342:exon2:c.C470T:p.A157V	.	415	1097	9	1	0	11	0.00498866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00239617	0.0117	0	0.0032	0	0	0	0.0060	0.0244	0.0013389	207	154602	rs569652332	0.0013	0.0013	0.0006	0.0020	0.0223	0.0013	0.0012	0.0214	0.0211	3.165e-05	2.801e-05	0	0	0	0.0012	9.269e-07	0.0008	0.0223	0.0006	0.0006	0.0002	0.0010	0.0184	0.0005	0.0005	0.0154	0.0142	2.405e-05	0	0	0	0	0	0	0	0	0.0184	0.077	0.34095	T	0.257	0.23231	T	0.295	0.32424	B	0.133	0.33073	B	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.65	0.12676	T	-1.29	0.32387	N	0.03	0.00717	-0.9727	0.36627	T	0.021	0.08963	T	9	0.0032694638	0.00056	T	.	.	.	0.015	0.02232	0.289	0.24921	0.0297737177859	0.01360	.	.	.	.	0.545254230499	0.45187	T	0.015186	0.12784	T	-0.643128	0.00080	T	-0.679	0.07044	T	0.0277906459123951	0.01658	T	0.454055	0.12934	T	0.035444275	0.04172	0.07100095	0.15153	0.03540245	0.04159	0.076426886	0.16925	-4.454	0.30283	T	.	.	0.278	0.51165	B	.;.	.;.	1.357152	0.17655	13.29	0.99500356129602263	0.67973	0.17181	0.19725	N	AEFDGBHCI	0.075297	0.15117	N	-1.05001192382694	0.07587	0.352964	-1.09349985103851	0.07827	0.3823173	0.999999093713252	0.74766	0.65757	0.49021	0	0.491552	0.07993	0	0.619478	0.44681	0	0.604282	0.37693	0	.	.	3.09	2.2	0.26966	0.306000	0.19030	2.214000	0.31393	-0.278000	0.06506	0.000000	0.06391	0.043000	0.21642	0.013000	0.09966	0.0:0.8016:0.1984:0.0	10.480	0.43873	969	0.06854	.;.	.	.	.	.	.	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	0.005198	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.048077	0.07143	824.53	35	chr14	104801667	.	C	T	824.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.214;DP=272;ExcessHet=0;FS=2.021;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.364;SOR=0.458	GT:AD:DP:GQ:PL	0/1:35,32:67:99:835,0,874	6	0	1	0
chr14	104946858	104946858	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C8293T:p.P2765S,AHNAK2:NM_138420:exon7:c.C8593T:p.P2865S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00459470606683	0.0002	.	0.0001	0.0004	0.0002	0	0	3e-05	0	0.0003	8.41e-05	13	154602	rs374832748	6.09e-05	6.567e-05	5.174e-05	7.015e-05	0.0003	5.029e-05	4.673e-05	0.0002	0.0002	0.0003	8.946e-05	0	5.038e-05	0	0	3.508e-05	0.0001	0.0003	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	9.758e-05	0.0002	0.0002	0.0003	0	0.0001	0	0	0	0	7.364e-05	0.0005	0.0006	0.489	0.08018	T	0.529	0.10138	T	0.397	0.34783	B	0.079	0.28749	B	.	.	.	.	1	0.08975	N	0.66	0.16226	N	5.8	0.00668	T	0.74	0.02038	N	0.125	0.11769	-0.9816	0.34632	T	0.002	0.00585	T	9	0.027059168	0.00859	T	0.004595	0.11346	T	0.032	0.07718	.	.	0.0138822411134	0.00435	0.004595366658337027	0.00432	.	.	0.200997397304	0.00487	T	0.015434	0.12947	T	-0.507365	0.00520	T	-0.656053	0.08536	T	0.00622560758553815	0.00069	T	0.536146	0.17993	T	0.0107566705	0.00010	0.03203088	0.01877	0.0107566705	0.00010	0.03203088	0.01876	-7.782	0.59574	D	.	.	0.131	0.28203	B	.	.	0.035207	0.04530	1.226	0.97357981042326147	0.33558	0.02152	0.06328	N	AEFBI	.	.	.	-1.02821519859209	0.08022	0.3746809	-1.07616590139917	0.08171	0.4005975	1.48381084831678E-4	0.05573	0.706548	0.73137	0	0.547309	0.14657	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	2.8	1.8	0.24069	-0.192000	0.09585	-0.386000	0.09508	0.591000	0.32079	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.4146:0.5854:0.0	9.616	0.38858	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	.	.	.	.	.	.	.	.	0.07143	7635.44	78	chr14	104946858	.	G	A	7635.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.914;DP=1524;ExcessHet=0;FS=1.252;MLEAC=1;MLEAF=0.071;MQ=58.32;MQRankSum=-0.949;QD=20.64;ReadPosRankSum=-0.12;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,200:370:99:0|1:104946858_G_A:7646,0,6334:104946858	6	0	1	0
chr14	104946870	104946870	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A8281C:p.I2761L,AHNAK2:NM_138420:exon7:c.A8581C:p.I2861L	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0063	0.0081869	0.0074	0.0102	0.0020	0.0272	0.0065	0.0070	0.0089	0.0013	0.0066364	1026	154602	rs181534063	0.0076	0.0076	0.0077	0.0074	0.0156	0.0074	0.0074	0.0146	0.0142	0.0077	0.0031	0.0006	0.0156	0.0086	0.0012	0.0080	0.0086	0.0017	0.0086	0.0091	0.0089	0.0084	0.0334	0.0082	0.0081	0.0293	0.0277	0.0076	0.0022	0.0051	0.0014	0.0334	0.0072	0	0.0094	0.0063	0.0017	0.344	0.12552	T	0.475	0.12072	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	5.82	0.00657	T	0.28	0.04233	N	0.104	0.08786	-0.9421	0.42282	T	0.001	0.00188	T	9	0.003938079	0.00075	T	.	.	.	0.011	0.01250	.	.	0.0138822411134	0.00435	0.0028205695077403265	0.00262	.	.	0.210526704788	0.00834	T	0.023238	0.17773	T	-0.727807	0.00025	T	-0.792458	0.02098	T	0.00528805193497834	0.00057	T	0.235876	0.03275	T	0.02703485	0.01840	0.031516463	0.01751	0.02703485	0.01840	0.031516463	0.01751	-2.677	0.07112	T	.	.	0.087	0.10979	B	.	.	-1.563246	0.00259	0.004	0.39834557148195859	0.02773	0.00108	0.00689	N	AEFBI	.	.	.	-2.00906139452148	0.00202	0.008664793	-2.03463233674781	0.00259	0.01140018	0.133057085688502	0.17129	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.07	-6.15	0.01925	-4.298000	0.00294	-11.402000	0.00608	-3.036000	0.00134	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0919:0.2353:0.5084:0.1644	6.049	0.19001	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	0.001016	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	7745.44	249	chr14	104946870	.	T	G	7745.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=1916;ExcessHet=0;FS=1.211;MLEAC=1;MLEAF=0.071;MQ=58.4;MQRankSum=-1.149;QD=19.96;ReadPosRankSum=0.655;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,205:388:99:0|1:104946858_G_A:7756,0,6701:104946858	6	0	1	0
chr15	20845872	20845872	T	C	exonic	POTEB;POTEB2	.	nonsynonymous SNV	POTEB2:NM_001277303:exon9:c.A1259G:p.N420S,POTEB:NM_001277304:exon9:c.A1259G:p.N420S	.	436	962	122	2	0	126	0.0614634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1023	0.1962	0.1486	0.1165	0.0769	0.0872	0.0804	0.0657	0.0592295	9157	154602	rs79335648	8.749e-05	6.598e-05	5.516e-05	0.0001	0.0007	4.714e-05	3.515e-05	0.0001	4.787e-05	0	0.0007	0	0.0004	0	0	8.064e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.14256	T	0.839	0.03621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.32	0.16640	T	-0.63	0.18459	N	0.008	0.00068	.	.	.	.	.	.	.	0.0018360615	0.00025	T	.	.	.	.	.	.	.	.	.	0.006055757321101937	0.00574	1.56174073802	0.88049	0.741252064705	0.73158	T	0.003477	0.02879	T	-0.366787	0.03760	T	-0.76464	0.02949	T	.	.	.	0.39826	0.10085	T	0.023043897	0.01012	0.036473703	0.03101	0.023043897	0.01012	0.036473703	0.03101	-3.291	0.13621	T	.	.	0.079	0.07412	B	.	.	-0.426343	0.02115	0.200	0.31482124279507218	0.01776	0.00335	0.01744	N	AEFI	0.024797	0.01593	N	.	.	.	.	.	.	1.07113283285327E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-2.79	0.05494	-0.085000	0.11215	-10.088000	0.00741	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2288:0.3611:0.0:0.4101	2.473	0.04291	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.094329	0.101266	0.100000	0.132479	0.000000	0.052632	0.083942	0.073171	0.07143	1625.44	33	chr15	20845872	.	T	C	1625.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.173;DP=543;ExcessHet=0;FS=0.923;MLEAC=1;MLEAF=0.071;MQ=38.35;MQRankSum=-2.553;QD=4.99;ReadPosRankSum=1.31;SOR=0.777	GT:AD:DP:GQ:PL	0/1:229,97:326:99:1636,0,5127	6	0	1	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	.	.	.	.	.	.	.	.	0.07143	1500.46	36	chr15	21652117	.	A	C	1500.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.47;DP=315;ExcessHet=0;FS=10.716;MLEAC=1;MLEAF=0.071;MQ=28.16;MQRankSum=-0.466;QD=12.61;ReadPosRankSum=1.31;SOR=0.221	GT:AD:DP:GQ:PL	0/1:55,64:119:99:1511,0,1252	6	0	1	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	.	.	.	.	.	.	.	.	0.07143	3079.45	39	chr15	21652190	.	C	T	3079.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.51;DP=493;ExcessHet=0;FS=0.516;MLEAC=1;MLEAF=0.071;MQ=33.58;MQRankSum=0.437;QD=14.95;ReadPosRankSum=-1.455;SOR=0.736	GT:AD:DP:GQ:PL	0/1:83,123:206:99:3090,0,1787	6	0	1	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	.	.	.	.	.	.	.	.	0.07143	3824.49	39	chr15	21652283	.	G	C	3824.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.523;DP=480;ExcessHet=0;FS=9.861;MLEAC=1;MLEAF=0.071;MQ=34.25;MQRankSum=-0.171;QD=19.82;ReadPosRankSum=-0.053;SOR=0.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,121:193:99:0|1:21652283_G_C:3835,0,1527:21652283	6	0	1	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	.	.	.	.	.	.	.	.	0.07143	1086.49	39	chr15	21652290	.	C	A	1086.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.297;DP=475;ExcessHet=0;FS=1.222;MLEAC=1;MLEAF=0.071;MQ=34.34;MQRankSum=0.639;QD=5.69;ReadPosRankSum=0.49;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,59:191:99:0|1:21652283_G_C:1097,0,4334:21652283	6	0	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.8571	7281.9	27	chr15	22081297	.	T	C	7281.9	.	AC=12;AF=0.857;AN=14;BaseQRankSum=8.72;DP=836;ExcessHet=0.3476;FS=134.374;MLEAC=12;MLEAF=0.857;MQ=46.84;MQRankSum=-7.545;QD=9.34;ReadPosRankSum=0.422;SOR=7.264	GT:AD:DP:GQ:PL	1/1:0,92:92:99:2994,277,0	0	5	2	0
chr15	22607648	22607648	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon19:c.G1791C:p.K597N	.	448	1066	8	0	0	8	0.00373832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200813174	0.0010	0.0011	0.0009	0.0011	0.0034	0.0009	0.0009	0.0029	0.0027	0.0023	0.0006	0.0005	0.0034	0.0003	0.0010	0.0008	0.0010	0.0026	0.0013	0.0014	0.0013	0.0012	0.0033	0.0011	0.0010	0.0020	0.0018	0.0023	0	0.0009	0.0009	0.0012	0.0002	0	0.0008	0.0010	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	363.64	19	chr15	22607648	.	C	G	363.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.121;DP=183;ExcessHet=0;FS=3.018;MLEAC=1;MLEAF=0.071;MQ=44.18;MQRankSum=-1.247;QD=6.86;ReadPosRankSum=-0.61;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,13:53:99:0|1:22607648_C_G:374,0,1576:22607648	6	0	1	0
chr15	22609500	22609500	T	C	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon14:c.A1205G:p.H402R	.	423	1096	3	0	0	3	0.00136674	.	.	.	2817199	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.000439758110225	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs542802244	0.0008	0.0009	0.0007	0.0010	0.0059	0.0008	0.0008	0.0055	0.0053	0.0031	0.0008	7.658e-05	0.0009	0.0002	0.0011	0.0004	0.0015	0.0059	0.0013	0.0013	0.0010	0.0016	0.0077	0.0012	0.0011	0.0057	0.0051	0.0024	0	0.0009	0	0.0023	0.0002	0	0.0005	0.0005	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	966.27	39	chr15	22609500	.	T	C	966.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.859;DP=216;ExcessHet=0;FS=6.29;MLEAC=1;MLEAF=0.083;MQ=45.53;MQRankSum=-1.568;QD=21.01;ReadPosRankSum=1.13;SOR=1.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,25:46:99:0|1:22609499_G_A:976,0,807:22609499	5	0	1	1
chr15	22980853	22980853	-	CCGCTGGGGACCCCCCCGGCCGG	exonic	CYFIP1	.	frameshift insertion	CYFIP1:NM_001324119:exon1:c.38_39insCCGGCCGGGGGGGTCCCCAGCGG:p.L14Rfs*34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1342315221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.315e-05	1.314e-05	2.571e-05	0	6.545e-05	2.19e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	297.23	28	chr15	22980853	.	C	CCCGCTGGGGACCCCCCCGGCCGG	297.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.743;DP=161;ExcessHet=0;FS=1.527;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-0.378;SOR=1.061	GT:AD:DP:GQ:PL	0/1:23,9:32:99:307,0,940	5	0	1	1
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	876.74	50	chr15	23361381	.	G	*	876.74	.	AC=5;AF=0.357;AN=14;DP=421;ExcessHet=1.4958;FS=0.825;MLEAC=5;MLEAF=0.357;MQ=54.03;QD=2.34;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,26:110:99:.:.:761,0,3249:.	2	0	5	0
chr15	23440328	23440328	C	0	exonic	GOLGA6L2	.	.	.	.	950	317	163	50	42	305	0.2932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	43.73	36	chr15	23440328	.	C	*	43.73	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.126;DP=394;ExcessHet=4.1913;FS=16.583;MLEAC=4;MLEAF=0.5;MQ=54.16;MQRankSum=0.126;QD=0.32;ReadPosRankSum=0;SOR=3.018	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,4:42:43:0|1:23440319_CT_C:43,0,1462:23440319	1	0	3	3
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11756.5	113	chr15	23440492	.	C	*	11756.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=810;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=58.45;MQRankSum=-0.27;QD=15.03;ReadPosRankSum=0.216;SOR=0.697	GT:AD:DP:GQ:PL	1/0:0,84:164:99:5869,2532,3247	0	0	6	1
chr15	25862994	25862994	G	C	exonic	ATP10A	.	nonsynonymous SNV	ATP10A:NM_024490:exon1:c.C103G:p.P35A	.	413	1070	38	1	0	40	0.0183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	0.00738818	0.0166	0.0042	0.015	0	0	0.0153	0	0.0355	0.0025226	390	154602	rs201984250	0.0102	0.0095	0.0099	0.0106	0.0265	0.0101	0.0100	0.0254	0.0250	0.0017	0.0037	0.0095	3.449e-05	0.0043	0.0099	0.0102	0.0090	0.0265	0.0077	0.0077	0.0076	0.0079	0.0301	0.0074	0.0072	0.0261	0.0246	0.0024	0.0143	0.0061	0.0069	0	0.0040	0.0069	0.0109	0.0052	0.0301	0.4	0.10482	T	0.306	0.26714	T	0.002	0.09854	B	0.002	0.06944	B	0.800728	0.06767	N	1.128570	0.999925	0.19486	N	0.55	0.14455	N	3.0	0.09167	T	-0.6	0.17834	N	0.222	0.24883	-0.9966	0.30865	T	0.037	0.16073	T	10	0.004319489	0.00087	T	.	.	.	0.099	0.28413	.	.	0.425592409813	0.42174	0.26603274096494134	0.26516	0.836547363532	0.67840	0.861666023731	0.91357	D	0.026818	0.19766	T	-0.601268	0.00143	T	-0.622177	0.11015	T	0.00638069958827155	0.00071	T	0.692631	0.30204	T	0.08781295	0.20463	0.11398819	0.27513	0.08781295	0.20463	0.11398819	0.27512	-3.461	0.18876	T	.	.	0.058	0.00670	B	.;.	.;.	2.590312	0.33598	19.39	0.96415717537927481	0.29740	0.72840	0.35640	D	AEFDBCI	0.122009	0.23696	N	-0.265191423867348	0.30502	1.701342	-0.209321729804864	0.31199	1.763522	0.999980345760994	0.51787	0.59774	0.34471	0	0.475579	0.06741	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.13	3.13	0.35090	3.120000	0.50123	3.893000	0.40305	0.566000	0.28629	0.748000	0.29111	1.000000	0.68203	0.981000	0.58702	0.0:0.221:0.779:0.0	10.385	0.43315	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	0.009637	0.011628	0.000000	0.006494	0.000000	0.000000	0.020270	0.030172	0.07143	957.63	38	chr15	25862994	.	G	C	957.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.075;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-2.097;SOR=0.606	GT:AD:DP:GQ:PL	0/1:28,38:66:99:968,0,798	6	0	1	0
chr15	28257189	28257189	T	C	exonic	HERC2	.	nonsynonymous SNV	HERC2:NM_004667:exon17:c.A2389G:p.M797V	Mental retardation, autosomal recessive 38, Autosomal recessive	414	1067	39	2	0	43	0.019752	.	.	.	215493	HERC2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0022	0.00199681	0.0026	0.0018	0.0014	0	0	0.0026	0.0122	0.0057	0.0023738	367	154602	rs150930758	0.0018	0.0018	0.0015	0.0020	0.0318	0.0017	0.0017	0.0280	0.0266	0.0027	0.0026	0.0197	0	1.872e-05	0.0318	0.0008	0.0041	0.0060	0.0022	0.0022	0.0022	0.0022	0.0063	0.0020	0.0019	0.0053	0.0049	0.0017	0	0.0063	0.0185	0	0	0.0136	0.0011	0.0043	0.0044	0.271	0.15984	T	.	.	.	0.007	0.14184	B	0.005	0.11217	B	0.000243	0.46924	N	0.235442	0.714068	0.29986	N	1.265	0.31966	L	1.22	0.37052	T	-0.79	0.21860	N	0.174	0.18649	-1.0669	0.10108	T	0.039	0.16806	T	10	0.009844363	0.00221	T	.	.	.	0.041	0.10877	.	.	0.161926535498	0.15789	0.4378179955636888	0.43698	0.744429683914	0.63434	0.363349378109	0.19873	T	0.080154	0.36297	T	-0.521538	0.00431	T	-0.519456	0.20350	T	0.000318426846013935	0.00003	T	0.666933	0.27600	T	0.050658528	0.09184	0.06506797	0.13133	0.050658528	0.09184	0.06506797	0.13133	-1.262	0.01342	T	0.09886509047827896	0.07116	0.059	0.00730	B	.	.	0.446432	0.08165	4.899	0.68021992218274507	0.08531	0.75345	0.36886	D	AEFDBI	0.095707	0.19332	N	-0.716014050531727	0.15571	0.7859163	-0.621457361082256	0.18943	1.014164	0.0122129500113072	0.12295	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	0.315	0.15097	1.153000	0.31287	-0.412000	0.09340	-1.403000	0.01139	0.820000	0.29989	0.000000	0.08366	0.027000	0.12703	0.1156:0.1966:0.0:0.6878	5.617	0.16720	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	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	0.027615	0.006944	0.027397	0.071429	0.000000	0.026316	0.018657	0.012397	0.07143	1230.46	36	chr15	28257189	.	T	C	1230.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.82;DP=311;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.183;SOR=0.703	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1241,0,1506	6	0	1	0
chr15	31032927	31032927	T	C	exonic	TRPM1	.	nonsynonymous SNV	TRPM1:NM_001252020:exon21:c.A2765G:p.E922G,TRPM1:NM_002420:exon21:c.A2648G:p.E883G,TRPM1:NM_001252024:exon22:c.A2714G:p.E905G	Night blindness, congenital stationary (complete), 1C, autosomal recessive	.	.	.	.	.	.	.	.	.	.	1157396	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.940	0.314255609982	.	0.000599042	0.0009	0.0001	8.639e-05	0	0	0	0.0022	0.0066	0.0007503	116	154602	rs574652148	0.0004	0.0004	0.0002	0.0007	0.0073	0.0004	0.0004	0.0068	0.0066	2.987e-05	2.236e-05	0	0	0	0.0005	2.698e-06	0.0003	0.0073	0.0002	0.0002	6.423e-05	0.0004	0.0066	0.0002	0.0001	0.0048	0.0042	2.405e-05	0	0	0	0	0	0	0	0	0.0066	0.001	0.91255	D	0.001	0.83351	D	0.925	0.51395	P	0.687	0.53665	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	1.495	0.37439	L	-4.48	0.97606	D	-6.52	0.91695	D	0.88	0.87808	1.071	0.98631	D	0.921	0.97402	D	10	0.014354885	0.00302	T	0.314256	0.91280	D	0.940	0.98708	0.571	0.69431	0.718491034691	0.71601	0.857034201713651	0.85666	0.867029497219	0.69248	0.609079539776	0.54185	T	0.616515	0.92467	D	0.17992	0.72036	D	0.489532	0.94392	D	0.132951989204466	0.15653	T	0.932807	0.74830	D	0.90784454	0.92095	0.9618735	0.99071	0.9304826	0.94285	0.9741625	0.99633	-14.08	0.93512	D	0.3833522105023061	0.47747	0.938	0.86772	P	.;.;.;.;.	.;.;.;.;.	5.056152	0.84244	28.3	0.99924903342726334	0.98980	0.93074	0.57261	D	ALL	0.950448	0.96408	D	0.680532862671308	0.78358	6.855243	0.703768566832512	0.82665	7.823582	1.0	0.98316	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.648885	0.59868	0	.	.	5.59	5.59	0.84677	8.010000	0.88153	7.898000	0.73400	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.761	0.77852	819	0.41190	Ion transport domain;.;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1636.53	33	chr15	31032927	.	T	C	1636.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.84;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.809;SOR=0.653	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1647,0,1270	6	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1421.39	77	chr15	33066576	.	A	G	1421.39	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.25;DP=407;ExcessHet=3.1439;FS=230.13;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=1.48;SOR=6.9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,9:69:99:0|1:33066574_C_T:151,0,2487:33066574	2	0	4	1
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	791.31	77	chr15	33066577	.	C	G	791.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.61;DP=397;ExcessHet=3.1439;FS=238.759;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.58;ReadPosRankSum=1.41;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,8:69:99:.:.:110,0,2489:.	2	0	4	1
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q	.	.	.	.	.	.	.	.	.	.	.	3676472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	448.01	77	chr15	33066579	.	C	G	448.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.34;DP=411;ExcessHet=1.1394;FS=190.15;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=0.475;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,8:69:99:.:.:110,0,2489:.	5	0	1	1
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	521.25	77	chr15	33066580	.	C	G	521.25	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.941;DP=411;ExcessHet=1.1394;FS=179.184;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.28;ReadPosRankSum=0.486;SOR=7.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,9:68:99:0|1:33066574_C_T:154,0,2425:33066574	3	0	3	1
chr15	42448172	42448172	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001284306:exon2:c.C521T:p.A174V,ZNF106:NM_001381996:exon3:c.C593T:p.A198V,ZNF106:NM_022473:exon3:c.C2966T:p.A989V,ZNF106:NM_001284307:exon4:c.C650T:p.A217V,ZNF106:NM_001366844:exon4:c.C650T:p.A217V,ZNF106:NM_001381995:exon4:c.C650T:p.A217V,ZNF106:NM_001381997:exon4:c.C650T:p.A217V,ZNF106:NM_001381998:exon4:c.C650T:p.A217V,ZNF106:NM_001381993:exon5:c.C2834T:p.A945V,ZNF106:NM_001381994:exon5:c.C851T:p.A284V,ZNF106:NM_001366845:exon6:c.C3035T:p.A1012V,ZNF106:NM_001366846:exon6:c.C3035T:p.A1012V	.	436	1078	8	0	0	8	0.00369686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0361687009606	0.0006	0.000998403	0.0013	0.0014	0.0003	0	0	0.0002	0.0011	0.0073	0.0010737	166	154602	rs140464950	0.0006	0.0006	0.0004	0.0008	0.0066	0.0006	0.0006	0.0061	0.0059	0.0008	0.0003	0.0005	0	0	0.0023	0.0002	0.0007	0.0066	0.0006	0.0006	0.0005	0.0007	0.0039	0.0005	0.0004	0.0026	0.0021	0.0009	0	0.0002	0.0003	0	0	0	0.0003	0.0009	0.0039	0.001	0.78490	D	0.039	0.60337	D	0.033	0.20350	B	0.012	0.16012	B	0.097928	0.20004	N	0.491622	0.862496	0.28334	N	2.135	0.59519	M	-1.8	0.83893	D	-1.23	0.49684	N	0.23	0.25867	-0.4403	0.70720	T	0.389	0.74394	T	10	0.00436154	0.00089	T	0.036169	0.56817	D	0.208	0.49714	.	.	0.683599622026	0.68090	0.108420524867555	0.10771	0.495656575686	0.48101	0.39023900032	0.23704	T	0.012853	0.28748	T	-0.320007	0.06897	T	-0.228299	0.51936	T	0.0350448506429931	0.02815	T	0.721828	0.33531	T	0.047995456	0.08294	0.08561266	0.19779	0.047995456	0.08294	0.08561266	0.19779	-4.292	0.28065	T	.	.	0.126	0.26825	B	.;.;.;.;.	.;.;.;.;.	2.794821	0.36749	20.3	0.9963625727933938	0.76387	0.82875	0.42045	D	AEFBI	0.112596	0.22250	N	-0.38023398412443	0.26174	1.42649	-0.3911594813088	0.25259	1.388036	0.999461460864296	0.39843	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.23	0.981	0.18875	1.674000	0.37160	2.431000	0.32730	-0.135000	0.12811	0.974000	0.34632	0.208000	0.23622	0.796000	0.37562	0.066:0.3399:0.5941:0.0	12.668	0.56219	108	0.95573	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1872.44	41	chr15	42448172	.	G	A	1872.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.661;DP=334;ExcessHet=0;FS=4.171;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.505;SOR=0.43	GT:AD:DP:GQ:PL	0/1:66,74:140:99:1883,0,1555	6	0	1	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	106.38	33	chr15	43021291	.	A	G	106.38	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.577;DP=489;ExcessHet=0.3476;FS=128.767;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=-0.269;SOR=9.065	GT:AD:DP:GQ:PL	0/1:68,26:94:99:109,0,1085	5	0	2	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	246.27	30	chr15	51480616	.	G	C	246.27	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-4.117;DP=432;ExcessHet=1.383;FS=628.443;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.23;SOR=9.327	GT:AD:DP:GQ:PL	0/1:79,31:121:22:22,0,1545	1	0	3	3
chr15	52184621	52184621	T	G	exonic	GNB5	.	nonsynonymous SNV	GNB5:NM_016194:exon2:c.A56C:p.K19T	Intellectual developmental disorder with cardiac arrhythmia, Autosomal recessive;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0163761316681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.841e-07	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.068	0.44106	T	0.023	0.18885	B	0.021	0.19346	B	0.000976	0.40836	D	0.107923	0.880332	0.28060	N	.	.	.	-0.0	0.62608	T	-0.92	0.24676	N	0.293	0.33140	-0.9121	0.46594	T	0.147	0.47183	T	10	0.18561482	0.33989	T	0.016376	0.37609	T	0.088	0.25558	0.434	0.48500	0.726457867943	0.72403	0.3015955698912636	0.30072	0.47951580378	0.46987	0.699413180351	0.67059	T	0.102892	0.41104	T	-0.0022497	0.51342	T	-0.241008	0.50701	T	0.754004895687103	0.43510	D	0.688231	0.29741	T	0.22631693	0.45310	0.33154708	0.59012	0.22631693	0.45310	0.33154708	0.59011	-4.651	0.32806	T	.	.	0.116	0.23219	B	.	.	3.073956	0.41330	21.3	0.99742668675427903	0.83629	0.94505	0.61382	D	AEFBI	0.571730	0.57560	D	-0.0402543423694457	0.40039	2.371057	0.164786179163553	0.47931	3.016046	0.999995752736676	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.6	5.6	0.84997	4.194000	0.58190	6.061000	0.53172	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.074:0.0:0.926	10.183	0.42153	260	0.89800	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	483.83	31	chr15	52184621	.	T	G	483.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.807;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=3.28;SOR=0.784	GT:AD:DP:GQ:PL	0/1:20,21:41:99:494,0,492	6	0	1	0
chr15	52337835	52337835	C	T	exonic	MYO5A	.	nonsynonymous SNV	MYO5A:NM_001382347:exon33:c.G4289A:p.R1430Q,MYO5A:NM_001382348:exon34:c.G4361A:p.R1454Q	Griscelli syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.26898486533	.	.	0.0010	0	0	0	0	0	0	0.0021	0.0001035	16	154602	rs751051982	0.0001	0.0001	4.826e-05	0.0002	0.0015	9.089e-05	8.551e-05	0.0013	0.0012	0	0.0001	0	0	0	0	2.049e-05	8.676e-05	0.0015	8.544e-05	8.533e-05	3.858e-05	0.0001	0.0021	4.958e-05	3.964e-05	0.0011	0.0009	0	0	0	0	0.0002	0	0	2.941e-05	0	0.0021	0.393	0.13175	T	0.304	0.20100	T	0.997	0.70673	D	0.947	0.68407	D	0.000635	0.42799	D	0.000000	0.976231	0.81001	D	.	.	.	-2.05	0.85799	D	-0.43	0.14390	N	0.556	0.58117	0.263	0.86952	D	0.726	0.90622	D	9	0.038466632	0.02267	T	0.268985	0.89804	D	0.299	0.61955	0.342	0.33464	0.598192288347	0.59498	.	.	.	.	.	.	.	0.017285	0.23047	T	-0.206393	0.19890	T	-0.109779	0.62629	T	0.186924518447312	0.19661	T	0.910509	0.68253	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.60973	B	.;.;.	.;.;.	5.488430	0.91455	32	0.99926364857128303	0.99103	0.98845	0.87614	D	AEFGBI	0.832828	0.75114	D	0.609133637019005	0.73751	6.017645	0.638858080299567	0.77784	6.746407	1.0	0.98316	0.75658	0.98901	0	0.724815	0.89359	0	0.527494	0.11647	0	0.656636	0.63459	0	.	.	5.56	5.56	0.83678	6.740000	0.74635	7.716000	0.67067	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.532	0.95226	319	0.87030	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1173.44	33	chr15	52337835	.	C	T	1173.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.041;DP=273;ExcessHet=0;FS=1.65;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.464;SOR=0.888	GT:AD:DP:GQ:PL	0/1:43,52:95:99:1184,0,995	6	0	1	0
chr15	55869581	55869581	C	G	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_001284340:exon3:c.G1711C:p.E571Q,NEDD4:NM_001284338:exon4:c.G1762C:p.E588Q,NEDD4:NM_001284339:exon4:c.G1762C:p.E588Q,NEDD4:NM_001329212:exon8:c.G64C:p.E22Q,NEDD4:NM_006154:exon8:c.G505C:p.E169Q	.	445	1052	22	3	0	28	0.0131332	0.9842	0.78	.	739699	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.341	.	0.0008	0.00179712	0.0098	0	0.0012	0.0008	0.0136	0.0044	0.0191	0.0236	0.0029236	452	154602	rs200302839	0.0023	0.0024	0.0017	0.0029	0.0189	0.0022	0.0022	0.0181	0.0178	0	0.0003	0.0008	2.638e-05	0.0086	0.0074	0.0010	0.0025	0.0189	0.0021	0.0021	0.0014	0.0027	0.0170	0.0019	0.0018	0.0140	0.0129	4.812e-05	0	0.0003	0.0012	0	0.0091	0	0.0018	0.0009	0.0170	0.137	0.25979	T	0.663	0.28860	T	0.609	0.90584	P	0.254	0.73362	B	.	.	.	.	0.867592	0.81001	D	2.25	0.63811	M	-2.91	0.91696	D	-2.14	0.48523	N	0.531	0.55972	-0.8322	0.53159	T	0.227	0.59221	T	9	0.008531868	0.00193	T	.	.	.	0.341	0.66297	.	.	0.931635973363	0.93093	0.3377238512636838	0.33685	.	.	.	.	.	0.251468	0.62172	T	-0.181927	0.23450	T	-0.0191658	0.69083	D	0.0473805698945018	0.05033	T	0.919908	0.78720	D	0.1940468	0.41138	0.17848879	0.40521	0.1940468	0.41138	0.17848879	0.40520	-10.473	0.76692	D	.	.	0.403	0.59727	A	.;.;.	.;.;.	4.758105	0.76898	26.6	0.99652454092928966	0.77380	0.98588	0.84418	D	AEFBI	0.897493	0.83972	D	0.464009259402484	0.65002	4.768017	0.538009565599981	0.70567	5.524293	0.999999999999816	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.266000	0.77851	7.633000	0.62825	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.432	0.90575	793	0.45818	.;.;.	.	.	.	.	.	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	0.005056	0.000000	0.001359	0.002941	0.000000	0.008621	0.003049	0.015267	0.07143	298.49	27	chr15	55869581	.	C	G	298.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.591;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=0.352;SOR=0.818	GT:AD:DP:GQ:PL	0/1:6,15:21:99:309,0,119	6	0	1	0
chr15	55915930	55915930	A	G	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_001284338:exon1:c.T902C:p.I301T,NEDD4:NM_001284339:exon1:c.T902C:p.I301T,NEDD4:NM_001284340:exon1:c.T902C:p.I301T,NEDD4:NM_198400:exon1:c.T902C:p.I301T	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0124801614458	.	.	0.0001	0	0	0	0	0	0	0.0009	9.7e-05	15	154602	rs745418424	6.362e-05	6.362e-05	1.361e-05	0.0001	0.0011	5.295e-05	4.911e-05	0.0009	0.0008	0	0	0	0	0	0	0	1.656e-05	0.0011	3.283e-05	3.281e-05	1.285e-05	5.369e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.001	0.78490	D	0.014	0.79402	D	0.007	0.14184	B	0.008	0.13708	B	0.051177	0.02021	N	2.215190	0.999873	0.50225	D	1.845	0.48678	L	0.78	0.49358	T	-0.36	0.14782	N	0.101	0.08506	-0.9419	0.42314	T	0.133	0.44642	T	10	0.04731229	0.04033	T	0.01248	0.31090	T	0.182	0.45420	0.342	0.33464	0.866542862993	0.86524	0.25105704394885187	0.25019	0.0780641134243	0.08785	0.360441446304	0.19450	T	0.188441	0.54235	T	-0.378764	0.03172	T	-0.398628	0.33543	T	0.182051329124557	0.19364	T	0.823018	0.48339	T	0.17978722	0.39066	0.18930845	0.42270	0.17978722	0.39066	0.18930845	0.42269	-2.314	0.04633	T	.	.	0.257	0.54876	B	.;.;.	.;.;.	2.633418	0.34246	19.57	0.99781893778253583	0.86867	0.48186	0.28150	N	AEDBCI	0.378045	0.46159	N	-0.134949124578256	0.35877	2.06641	0.0233960244339615	0.40804	2.441038	0.999999926854171	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.727631	0.95156	0	.	.	5.25	5.25	0.73169	6.241000	0.72327	11.180000	0.88279	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.340	0.66179	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1839.44	35	chr15	55915930	.	A	G	1839.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.267;DP=330;ExcessHet=0;FS=2.28;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.295;SOR=0.617	GT:AD:DP:GQ:PL	0/1:52,74:126:99:1850,0,1238	6	0	1	0
chr15	56094864	56094869	GTGGGT	-	exonic	RFX7	.	nonframeshift deletion	RFX7:NM_001368073:exon9:c.2568_2573del:p.P867_T868del,RFX7:NM_001368074:exon9:c.2568_2573del:p.P867_T868del,RFX7:NM_001370554:exon9:c.2568_2573del:p.P867_T868del,RFX7:NM_022841:exon10:c.2859_2864del:p.P964_T965del,RFX7:NM_001370561:exon12:c.2859_2864del:p.P964_T965del	.	436	1025	27	2	32	63	0.0148967	.	.	.	2814154	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0049	0.00279553	0.0025	0.0012	0.0022	0	0.0016	0.0024	0	0.0063	0.0001153	3	26028	rs551989191	0.0031	0.0032	0.0029	0.0033	0.0109	0.0031	0.0030	0.0103	0.0100	0.0007	0.0032	0.0008	0.0002	0.0016	0.0052	0.0028	0.0036	0.0109	0.0026	0.0026	0.0025	0.0028	0.0088	0.0024	0.0023	0.0067	0.0059	0.0009	0	0.0052	0.0003	0	0.0027	0.0069	0.0030	0.0024	0.0088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168699	0.432990	0.052486	0.114706	0.400000	0.078947	0.231707	0.113636	0.07143	2258.79	33	chr15	56094863	.	AGTGGGT	A	2258.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.37;DP=313;ExcessHet=0;FS=4.487;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.81;ReadPosRankSum=0.53;SOR=0.54	GT:AD:DP:GQ:PL	0/1:56,58:114:99:2269,0,2133	6	0	1	0
chr15	56412369	56412369	T	G	exonic	TEX9	.	nonsynonymous SNV	TEX9:NM_001385050:exon6:c.T287G:p.L96W,TEX9:NM_001385052:exon6:c.T287G:p.L96W,TEX9:NM_001385051:exon7:c.T287G:p.L96W,TEX9:NM_001385040:exon8:c.T671G:p.L224W,TEX9:NM_001385043:exon8:c.T671G:p.L224W,TEX9:NM_001385046:exon8:c.T764G:p.L255W,TEX9:NM_001385048:exon8:c.T539G:p.L180W,TEX9:NM_001385042:exon9:c.T671G:p.L224W,TEX9:NM_001385044:exon9:c.T671G:p.L224W,TEX9:NM_001286449:exon10:c.T671G:p.L224W,TEX9:NM_001385041:exon10:c.T671G:p.L224W,TEX9:NM_001385045:exon10:c.T671G:p.L224W,TEX9:NM_001385047:exon10:c.T896G:p.L299W,TEX9:NM_198524:exon10:c.T896G:p.L299W	.	436	1061	24	1	0	26	0.0121043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.731	.	0.0006	0.00379393	0.0027	0	0.0007	0.0001	0	0.0013	0.0033	0.0143	0.0023997	371	154602	rs138888960	0.0014	0.0015	0.0010	0.0019	0.0142	0.0014	0.0014	0.0136	0.0133	5.977e-05	0.0005	0.0141	2.521e-05	1.872e-05	0.0074	0.0003	0.0024	0.0142	0.0011	0.0011	0.0009	0.0012	0.0135	0.0009	0.0009	0.0108	0.0099	4.812e-05	0	0.0012	0.0121	0	0	0	0.0004	0.0019	0.0135	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000984	0.40743	D	0.211030	0.999919	0.51042	D	2.98	0.85499	M	-1.8	0.83893	D	-5.31	0.84457	D	0.943	0.95491	0.587	0.91730	D	0.723	0.90510	D	10	0.012893707	0.00275	T	.	.	.	0.731	0.90589	.	.	0.988395186899	0.98827	0.5853811297663031	0.58467	0.0796653918758	0.08968	0.696838080883	0.66687	T	0.539138	0.84188	D	0.0924472	0.63464	D	0.371694	0.91135	D	0.105391751677975	0.12939	T	0.89611	0.72041	D	0.54575557	0.69719	0.7560238	0.85582	0.54575557	0.69720	0.7560238	0.85582	-13.525	0.91409	D	.	.	0.526	0.70994	A	.;.;.	.;.;.	5.148710	0.86229	28.8	0.96552747361804592	0.30229	0.94712	0.62071	D	AEFI	0.700217	0.65731	D	0.806357584445064	0.86503	8.906175	0.776385537658714	0.88109	9.460082	0.999499761303772	0.40007	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	6.723000	0.74552	7.682000	0.65344	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.469	0.60723	394	0.83065	.;.;.	.	.	.	.	.	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	0.004536	0.000000	0.004076	0.005848	0.055556	0.008621	0.000000	0.007576	0.08333	433.27	15	chr15	56412369	.	T	G	433.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.067;DP=156;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.122;SOR=0.744	GT:AD:DP:GQ:PL	0/1:17,20:37:99:443,0,360	5	0	1	1
chr15	57523642	57523642	G	C	splicing	CGNL1	NM_032866:exon11:c.2868+1G>C;NM_001252335:exon12:c.2868+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393526	0.89538	D	0.327497	0.89407	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.823704	0.95784	35	0.99538815383370038	0.70336	0.99304	0.94225	D	AEFDBI	.	.	.	1.19902472003822	0.99541	23.607	1.04184117411279	0.99285	21.67433	0.999999999977438	0.74766	0.156188	0.03335	0	0.059962	0.00310	0	0.231514	0.04749	0	0.117559	0.03655	0	0.986644	0.94826	5.57	5.57	0.84021	9.249000	0.94640	11.640000	0.93781	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.0:0.0:1.0:0.0	19.909	0.97022	352	0.85375	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	166.27	29	chr15	57523642	.	G	C	166.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.811;DP=248;ExcessHet=0;FS=31.44;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=0.26;SOR=5.135	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,12:56:99:0|1:57523642_G_C:176,0,1720:57523642	5	0	1	1
chr15	63775396	63775396	G	C	exonic	HERC1	.	nonsynonymous SNV	HERC1:NM_003922:exon2:c.C228G:p.D76E	Macrocephaly, dysmorphic facies, and psychomotor retardation, Autosomal recessive	431	1076	15	0	0	15	0.00692201	.	.	.	1266616	HERC1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.312	.	0.0002	0.0197684	0.0116	0.0001	0.0003	0.0001	0	0.0001	0.0034	0.0834	0.0100193	1549	154602	rs376195217	0.0052	0.0052	0.0029	0.0076	0.0831	0.0051	0.0051	0.0815	0.0809	0.0001	2.236e-05	0	0.0002	3.746e-05	0.0024	6.476e-05	0.0056	0.0831	0.0030	0.0030	0.0016	0.0045	0.0909	0.0028	0.0027	0.0839	0.0811	0.0002	0	0.0001	0	0	9.422e-05	0	0.0001	0.0005	0.0909	0.888	0.02495	T	1.0	0.02434	T	0.001	0.07471	B	0.001	0.04355	B	0.000014	0.62929	U	0.064498	0.993986	0.42120	D	-1.935	0.00224	N	6.91	0.00471	T	0.22	0.18670	N	0.038	0.01203	-0.9458	0.41681	T	0.001	0.00222	T	10	0.0016878545	0.00021	T	.	.	.	0.312	0.63375	0.133	0.03747	.	.	0.0961374644490417	0.09545	0.637506906405	0.57491	0.832511484623	0.86948	D	0.070467	0.33966	T	-0.659024	0.00064	T	-0.655188	0.08595	T	0.0149431800913225	0.00319	T	0.877212	0.59013	D	0.042579513	0.06484	0.07137959	0.15278	0.052413862	0.09771	0.07137959	0.15277	-2.161	0.03855	T	.	.	0.117	0.48613	B	.;.;.;.	.;.;.;.	2.758218	0.36172	20.2	0.37748967229651575	0.02506	0.88574	0.48565	D	AEFDBI	0.171995	0.29901	N	-0.562537556287449	0.20093	1.056657	-0.296704841895762	0.28207	1.570851	0.213175535844685	0.18265	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.65	3.44	0.38486	2.526000	0.45267	4.942000	0.46218	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.2269:0.0:0.7731:0.0	10.703	0.45136	657	0.62240	.;.;.;.	.	.	.	.	.	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	0.012085	0.000000	0.000000	0.014620	0.000000	0.008621	0.003049	0.053030	0.1429	6289.22	37	chr15	63775396	.	G	C	6289.22	.	AC=2;AF=0.143;AN=14;DP=382;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.42;SOR=0.823	GT:AD:DP:GQ:PL	1/1:0,194:194:99:6310,582,0	6	1	0	0
chr15	64944682	64944682	C	T	exonic	ANKDD1A	.	nonsynonymous SNV	ANKDD1A:NM_182703:exon12:c.C1096T:p.R366C	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	.	0.0008	0.00279553	0.0014	0.0004	0.0007	0	0.0008	0.0007	0.0011	0.0066	0.0013066	202	154602	rs144426862	0.0010	0.0010	0.0008	0.0011	0.0055	0.0009	0.0009	0.0051	0.0049	0.0003	0.0008	0.0080	2.519e-05	0.0007	0.0021	0.0005	0.0015	0.0055	0.0009	0.0009	0.0008	0.0011	0.0083	0.0008	0.0007	0.0063	0.0055	0.0002	0	0.0004	0.0101	0	0.0004	0	0.0006	0.0019	0.0083	0.014	0.53172	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000028	0.55875	D	0.000000	1	0.81001	D	2.16	0.60381	M	-0.26	0.67187	T	-2.88	0.60507	D	0.754	0.76481	-0.1455	0.79028	T	0.440	0.77859	T	10	0.01610741	0.00339	T	.	.	.	0.508	0.78848	.	.	0.855414261099	0.85401	0.7731861323589757	0.77268	.	.	0.329505622387	0.14859	T	0.213192	0.57443	T	-0.0316921	0.47170	T	0.183619	0.82203	D	0.0525013322504808	0.05934	T	0.932007	0.74652	D	0.66055816	0.75929	0.5445342	0.73673	0.66055816	0.75930	0.5445342	0.73674	-7.591	0.58248	D	.	.	0.304	0.53316	B	.;.	.;.	5.073946	0.84639	28.4	0.99930647188692245	0.99334	0.90517	0.51758	D	AEFDGBI	0.652346	0.62578	D	0.704234473627106	0.79909	7.178674	0.691130652583448	0.81706	7.58956	0.433627658051257	0.20394	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.23	5.23	0.72570	4.753000	0.61880	1.965000	0.29958	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.564	0.87811	245	0.90404	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	0.003525	0.000000	0.000000	0.002924	0.100000	0.000000	0.006098	0.007576	0.07143	2557.45	33	chr15	64944682	.	C	T	2557.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.37;DP=332;ExcessHet=0;FS=4.397;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.96;ReadPosRankSum=-0.701;SOR=1.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,66:122:99:0|1:64944678_C_T:2568,0,2084:64944678	6	0	1	0
chr15	66781462	66781462	G	T	exonic	SMAD6	.	nonsynonymous SNV	SMAD6:NM_005585:exon4:c.G1418T:p.G473V	Aortic valve disease 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.974	0.520271951209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-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	3.685	0.94485	H	-7.0	0.99828	D	-8.76	0.97728	D	0.928	0.93252	0.946	0.96328	D	0.995	0.99882	D	10	0.9713853	0.96751	D	0.520272	0.95436	D	0.974	0.99740	.	.	0.967001650321	0.96664	0.8793881986586296	0.87905	1.01753635888	0.74995	0.812061071396	0.83808	D	0.99193	0.99970	D	0.585078	0.97320	D	0.602647	0.97277	D	0.999417304992676	0.97310	D	0.978627	0.92475	D	0.9931378	0.99905	0.9824477	0.99876	0.9931378	0.99905	0.9824477	0.99877	-15.44	0.96798	D	0.6869087200514594	0.76409	0.999	0.98907	P	.	.	5.472091	0.91285	32	0.99762450924625323	0.85172	0.99268	0.93707	D	AEFDBI	0.964385	0.98650	D	1.07572918353069	0.97658	16.51951	1.00967386719567	0.98806	19.445	1.0	0.98316	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.71	5.71	0.89031	9.873000	0.98476	11.711000	0.94653	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.858	0.96765	424	0.81215	SMAD domain, Dwarfin-type|SMAD domain, Dwarfin-type|SMAD domain, Dwarfin-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1609.83	33	chr15	66781462	.	G	T	1609.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.43;DP=283;ExcessHet=0;FS=1.621;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=1.92;SOR=0.88	GT:AD:DP:GQ:PL	0/1:41,63:104:99:1620,0,810	6	0	1	0
chr15	72664983	72664983	C	T	exonic	GOLGA6B	.	nonsynonymous SNV	GOLGA6B:NM_018652:exon14:c.C1541T:p.A514V	.	468	1051	3	0	0	3	0.00142518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00359425	0.0059	0	0.0007	0.0028	0	0.0003	0	0.0331	0.0006916	18	26028	rs528231856	0.0011	0.0011	0.0007	0.0014	0.0106	0.0010	0.0010	0.0099	0.0097	0	0.0003	5.597e-05	0.0023	2.839e-05	0.0003	7.216e-05	0.0008	0.0106	0.0004	0.0006	0.0002	0.0007	0.0136	0.0003	0.0003	0.0102	0.0090	6.672e-05	0	8.604e-05	0	0.0007	0	0	0.0001	0	0.0136	0.184	0.21634	T	0.307	0.19908	T	0.036	0.20732	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	0.925	0.23481	L	2.08	0.20255	T	-2.06	0.47175	N	0.081	0.05670	-0.9580	0.39552	T	0.019	0.07846	T	9	0.0042435527	0.00085	T	.	.	.	0.030	0.07022	.	.	0.0138822411134	0.00435	0.08582024674223458	0.08516	.	.	0.45127761364	0.32119	T	0.005077	0.04516	T	-0.321395	0.06785	T	-0.699438	0.05856	T	0.0287854505810516	0.01804	T	0.666933	0.27600	T	0.03130684	0.02947	0.04360336	0.05463	0.03130684	0.02947	0.04360336	0.05462	-3.979	0.23488	T	.	.	0.078	0.06756	B	.	.	0.404312	0.07755	4.438	0.93541448556425477	0.23368	0.00462	0.02227	N	AEFI	0.024620	0.01553	N	-1.32456514760814	0.03396	0.1516278	-1.38378988074006	0.03424	0.1596962	8.37626663713028E-5	0.04703	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.39	0.39	0.15500	0.159000	0.16258	-1.960000	0.04430	-2.152000	0.00373	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6078:0.0:0.3922	2.884	0.05308	431	0.80762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001156	0.000000	0.000000	0.000000	0.000000	0.000000	0.003247	0.004032	0.1	258.29	4	chr15	72664983	.	C	T	258.29	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.091;DP=108;ExcessHet=0;FS=10.665;MLEAC=1;MLEAF=0.1;MQ=41.08;MQRankSum=3.67;QD=7.38;ReadPosRankSum=0.188;SOR=1.472	GT:AD:DP:GQ:PL	0/1:22,13:35:99:267,0,542	4	0	1	2
chr15	74074956	74074956	T	C	exonic	GOLGA6A	.	nonsynonymous SNV	GOLGA6A:NM_001038640:exon11:c.A893G:p.E298G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.0057	0	0	0.0361	0	0	0	0.0251	0.0002652	41	154602	rs767990206	0.0002	0.0003	0.0002	0.0002	0.0044	0.0002	0.0002	0.0039	0.0036	3.921e-05	0	3.832e-05	0.0044	0	0	1.981e-05	0.0002	0.0009	0.0002	0.0003	9.18e-05	0.0003	0.0032	0.0001	0.0001	0.0020	0.0016	0	0	0	0	0.0032	0	0	1.527e-05	0	0.0021	0.005	0.63226	D	0.004	0.74150	D	0.267	0.31683	B	0.224	0.37970	B	.	.	.	.	0.998897	0.21818	N	2.895	0.83812	M	1.23	0.36872	T	-2.39	0.52612	N	0.303	0.34228	-0.9326	0.43755	T	0.114	0.40605	T	9	0.0070073903	0.00159	T	.	.	.	0.055	0.15663	.	.	0.0762999501168	0.06990	0.34916383518131894	0.34830	3.3059382823	0.99581	0.789822995663	0.80416	T	0.210092	0.57049	T	-0.572363	0.00214	T	-0.592047	0.13489	T	0.065203368688336	0.07961	T	0.70353	0.31362	T	0.13106877	0.30564	0.15376893	0.36119	0.13106877	0.30564	0.15376893	0.36119	-5.117	0.38086	T	.	.	0.117	0.23675	B	.	.	2.234191	0.28527	17.82	0.98111692563574959	0.38359	0.03154	0.08119	N	AEFI	0.050894	0.08939	N	-0.680181016189845	0.16588	0.8464376	-0.856465385840058	0.13132	0.6795764	7.71173368094658E-4	0.07793	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.51	1.51	0.22094	1.046000	0.29964	5.942000	0.51497	0.238000	0.18221	0.315000	0.25459	0.998000	0.33993	0.009000	0.08673	0.0:0.0:0.0:1.0	7.195	0.25026	829	0.39537	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	322.63	21	chr15	74074956	.	T	C	322.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.3;DP=162;ExcessHet=0;FS=1.298;MLEAC=1;MLEAF=0.071;MQ=34.19;MQRankSum=1.08;QD=7.87;ReadPosRankSum=-2.352;SOR=0.404	GT:AD:DP:GQ:PL	0/1:23,18:41:99:333,0,471	6	0	1	0
chr15	75649878	75649878	C	G	exonic	SNX33	.	nonsynonymous SNV	SNX33:NM_001318146:exon1:c.C776G:p.A259G,SNX33:NM_153271:exon1:c.C776G:p.A259G	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107162718075	0.0025	0.000798722	0.0033	0.0003	0.0006	0	0.0036	0.0049	0.0038	0.0011	0.0029042	449	154602	rs148170720	0.0037	0.0036	0.0038	0.0036	0.0043	0.0036	0.0036	0.0042	0.0041	0.0006	0.0009	4.72e-05	0	0.0053	0.0007	0.0043	0.0025	0.0009	0.0023	0.0023	0.0025	0.0021	0.0034	0.0021	0.0020	0.0031	0.0029	0.0008	0	0.0014	0	0	0.0049	0	0.0034	0.0038	0.0006	0.0	0.91255	D	0.004	0.74150	D	0.001	0.07471	B	0.04	0.23831	B	0.011947	0.29343	N	0.380726	0.946544	0.26627	N	-0.435	0.02851	N	1.28	0.35960	T	-1.73	0.41046	N	0.109	0.09490	-1.0580	0.12260	T	0.043	0.18535	T	10	0.0042622983	0.00085	T	0.010716	0.27578	T	0.026	0.05648	.	.	0.345175991111	0.34120	0.42126175560914203	0.42042	0.433213654183	0.43486	0.418732404709	0.27662	T	0.065323	0.32660	T	-0.50172	0.00559	T	-0.492234	0.23157	T	0.0701625015876535	0.08674	T	0.863414	0.55914	D	0.488129	0.66391	0.3581808	0.61299	0.488129	0.66392	0.3581808	0.61298	-5.371	0.40640	T	.	.	0.086	0.10787	B	.	.	3.089410	0.41597	21.4	0.87255900175937784	0.17098	0.79874	0.39668	D	AEFDGBCI	0.294725	0.40502	N	-0.464022824705207	0.23266	1.248237	-0.328545446577718	0.27181	1.506453	0.999997756452957	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.662677	0.59975	0	0.714379	0.83352	0	.	.	5.42	3.17	0.35510	2.037000	0.40795	2.688000	0.34067	0.597000	0.34315	0.939000	0.32602	0.994000	0.32194	0.804000	0.37906	0.0:0.6081:0.1632:0.2286	5.592	0.16589	183	0.92871	Phox homologous domain|Phox homologous domain|Phox homologous domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	3607.44	36	chr15	75649878	.	C	G	3607.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.328;DP=572;ExcessHet=0;FS=8.482;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-1.978;SOR=0.892	GT:AD:DP:GQ:PL	0/1:219,154:373:99:3618,0,5362	6	0	1	0
chr15	78766976	78766976	C	T	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon19:c.G2935A:p.E979K	.	777	736	7	2	0	11	0.0074174	.	.	.	2814403	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.080	0.0137141872735	0.0061	0.00279553	0.0050	0.0013	0.0018	0	0.0028	0.0068	0.0072	0.0061	0.0046636	721	154602	rs142824118	0.0073	0.0073	0.0075	0.0072	0.0085	0.0072	0.0072	0.0083	0.0083	0.0013	0.0023	0.0046	0	0.0034	0.0062	0.0085	0.0068	0.0050	0.0048	0.0048	0.0051	0.0046	0.0077	0.0046	0.0044	0.0072	0.0070	0.0017	0.0033	0.0047	0.0037	0	0.0027	0.0170	0.0077	0.0043	0.0027	0.745	0.03642	T	0.754	0.04737	T	0.104	0.25941	B	0.08	0.28873	B	0.029572	0.25434	N	0.374249	1	0.08975	N	0.99	0.25021	L	2.23	0.18083	T	-0.93	0.24898	N	0.251	0.28381	-0.9761	0.35882	T	0.023	0.09650	T	10	0.0047879815	0.00101	T	0.013714	0.33318	T	0.080	0.23350	.	.	0.259272394797	0.25527	0.4221608113651136	0.42133	0.192924809784	0.21626	0.361607074738	0.19620	T	0.007393	0.06799	T	-0.632425	0.00092	T	-0.67453	0.07321	T	0.00802774781014777	0.00095	T	0.171583	0.01629	T	0.03452273	0.03891	0.045653746	0.06190	0.03452273	0.03891	0.045653746	0.06189	-4.22	0.27040	T	.	.	0.060	0.00904	B	.	.	3.128772	0.42274	21.5	0.69891289535193057	0.09118	0.16885	0.19593	N	AEFGBI	0.161162	0.28718	N	-0.983271826971256	0.08960	0.42218	-0.924399695000994	0.11519	0.5873157	0.103581531675459	0.16451	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.83	3.92	0.44525	1.932000	0.39773	0.185000	0.15676	-0.375000	0.05424	0.095000	0.22689	0.004000	0.18990	0.018000	0.11154	0.0:0.6904:0.2244:0.0852	9.438	0.37814	499	0.76092	.	.	.	.	.	.	Likely benign	0	0	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	0.007336	0.006329	0.008219	0.000000	0.000000	0.000000	0.016779	0.008130	0.07143	344.63	32	chr15	78766976	.	C	T	344.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.098;DP=199;ExcessHet=0;FS=2.88;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-0.175;SOR=1.244	GT:AD:DP:GQ:PL	0/1:20,16:36:99:355,0,472	6	0	1	0
chr15	82344921	82345130	TAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACG	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.730_939del:p.R244_L313del,GOLGA6L10:NM_001322400:exon6:c.730_939del:p.R251_L320del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0010	0.0006	0.0006	0.0013	0.0006	0.0006	0.0010	0.0009	0.0006	0.0006	0.0017	0.0009	0.0007	0.0013	0.0006	0.0010	0.0012	0.0010	0.0013	0.0009	0.0010	0.0013	0.0008	0.0008	0.0010	0.0009	0.0013	0	0.0005	0.0013	0.0005	0.0025	0.0042	0.0007	0.0012	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1007.0	39	chr15	82344920	.	ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACG	A	1007.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.089;DP=641;ExcessHet=0.3476;FS=56.487;MLEAC=1;MLEAF=0.071;MQ=39.72;MQRankSum=-1.98;QD=2.72;ReadPosRankSum=1.35;SOR=1.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:222,17:246:99:.:.:233,0,7940:.	6	0	1	0
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	127.85	42	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	127.85	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.24;DP=778;ExcessHet=1.1394;FS=15.248;MLEAC=2;MLEAF=0.143;MQ=38.5;MQRankSum=-0.364;QD=0.28;ReadPosRankSum=-1.257;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,30:193:99:1|0:82345004_ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACG_A:645,0,6506:82345004	5	0	2	0
chr15	82345046	82345046	G	0	exonic	GOLGA6L10	.	.	.	.	649	829	42	0	2	44	0.0247059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	31.71	58	chr15	82345046	.	G	*	31.71	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.967;DP=830;ExcessHet=2.5225;FS=15.134;MLEAC=4;MLEAF=0.5;MQ=22.34;MQRankSum=-0.967;QD=0.07;ReadPosRankSum=0;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,30:193:99:1|0:82345004_ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACG_A:645,0,6506:82345004	1	0	3	3
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	607.58	71	chr15	82345087	.	C	*	607.58	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.77;DP=790;ExcessHet=1.1394;FS=11.916;MLEAC=2;MLEAF=0.143;MQ=37.72;MQRankSum=-1.074;QD=1.34;ReadPosRankSum=-2.863;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,30:193:99:1|0:82345004_ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACG_A:645,0,6506:82345004	5	0	2	0
chr15	83263096	83263096	G	A	exonic	BNC1	.	nonsynonymous SNV	BNC1:NM_001301206:exon4:c.C2134T:p.R712C,BNC1:NM_001717:exon4:c.C2155T:p.R719C	.	422	1096	3	1	0	5	0.00227583	.	.	.	2245763	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0199555661979	7.7e-05	.	0.0002	0	0	0.0001	0	7.493e-05	0.0011	0.0012	0.0001876	29	154602	rs201815978	0.0001	0.0001	7.759e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	2.987e-05	2.236e-05	0	0.0002	1.872e-05	0.0005	2.878e-05	0.0001	0.0018	0.0002	0.0002	3.855e-05	0.0003	0.0033	0.0001	0.0001	0.0021	0.0017	4.812e-05	0	0.0001	0	0.0004	0	0	5.88e-05	0	0.0033	0.076	0.34982	T	0.072	0.43344	T	0.01	0.17573	B	0.003	0.08700	B	0.004197	0.34013	N	0.323427	0.989888	0.41043	D	1.445	0.36358	L	0.15	0.60734	T	-1.91	0.44471	N	0.227	0.26957	-0.9497	0.41023	T	0.159	0.49329	T	10	0.018577337	0.00405	T	0.019956	0.42451	T	0.067	0.19503	.	.	0.0675242888579	0.06100	0.35129110195900404	0.35043	0.198306470741	0.22208	0.367581814528	0.20484	T	0.184307	0.53693	T	-0.414055	0.01868	T	-0.397617	0.33661	T	0.0206676764154318	0.00766	T	0.853415	0.53896	D	0.079213805	0.18084	0.06297442	0.12403	0.079213805	0.18084	0.06297442	0.12402	-5.271	0.39655	T	.	.	0.094	0.19679	B	.;.	.;.	3.142403	0.42507	21.6	0.99079914664387436	0.51930	0.63233	0.32025	D	AEFBI	0.085879	0.17411	N	-0.338762001893546	0.27687	1.521091	-0.282199210678542	0.28685	1.601237	0.225333597737654	0.18403	0.624846	0.39970	0	0.59043	0.45803	0	0.650271	0.49498	0	0.635551	0.53088	0	.	.	5.46	2.44	0.28875	2.466000	0.44742	4.510000	0.43644	0.676000	0.76740	0.997000	0.40164	0.995000	0.32472	0.993000	0.69303	0.2077:0.0:0.6643:0.128	6.522	0.21476	430	0.80826	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2592.44	33	chr15	83263096	.	G	A	2592.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=399;ExcessHet=0;FS=1.692;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.24;SOR=0.642	GT:AD:DP:GQ:PL	0/1:101,106:207:99:2603,0,2302	6	0	1	0
chr15	85580578	85580578	C	T	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.C2510T:p.T837M,AKAP13:NM_007200:exon7:c.C2510T:p.T837M	.	425	1080	17	0	0	17	0.00780891	.	.	.	2814436	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.156	0.0154791093846	0.0065	0.00199681	0.0050	0.0021	0.0021	0	0.0006	0.0061	0.0044	0.0088	0.0051681	799	154602	rs114703106	0.0081	0.0081	0.0080	0.0083	0.0094	0.0080	0.0080	0.0092	0.0091	0.0013	0.0021	0.0002	2.519e-05	0.0009	0.0028	0.0093	0.0083	0.0094	0.0048	0.0048	0.0049	0.0047	0.0083	0.0045	0.0044	0.0076	0.0074	0.0017	0	0.0028	0	0.0002	0.0003	0	0.0082	0.0061	0.0083	0.102	0.30235	T	0.023	0.60972	D	0.983	0.63424	D	0.353	0.49411	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	2.67	0.12473	T	-0.67	0.19297	N	0.076	0.06720	-1.0340	0.19173	T	0.017	0.06998	T	9	0.0032957494	0.00057	T	0.015479	0.36235	T	0.156	0.40720	.	.	0.257342827899	0.25358	0.16174020761707314	0.16095	0.134875707514	0.15193	0.25040858984	0.03811	T	0.011446	0.26033	T	-0.602687	0.00140	T	-0.628106	0.10559	T	0.0215881027544208	0.00864	T	0.648535	0.25952	T	0.014690307	0.00103	0.018940158	0.00071	0.014690307	0.00103	0.018940158	0.00071	-4.915	0.35903	T	.	.	0.079	0.07318	B	.;.;.	.;.;.	1.298715	0.17006	12.90	0.96240630383982884	0.29151	0.05087	0.10884	N	AEFDBHCIJ	.	.	.	-0.813794746198301	0.12957	0.6350632	-0.918950610105861	0.11647	0.5946478	0.999999113325717	0.74766	0.75658	0.98901	0	0.696144	0.67643	0	0.65145	0.50148	0	0.656636	0.63459	0	.	.	5.32	1.65	0.23015	1.223000	0.32131	0.711000	0.20937	-1.005000	0.01788	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5793:0.1902:0.088:0.1425	2.281	0.03862	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002717	0.005848	0.000000	0.008621	0.009146	0.011364	0.07143	1213.44	56	chr15	85580578	.	C	T	1213.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.4;DP=402;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.913;SOR=0.641	GT:AD:DP:GQ:PL	0/1:63,47:110:99:1224,0,1562	6	0	1	0
chr15	88847317	88847317	C	T	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon8:c.C1504T:p.R502C,ACAN:NM_001369268:exon8:c.C1504T:p.R502C,ACAN:NM_013227:exon8:c.C1504T:p.R502C	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	726319	ACAN-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.116	.	8e-05	0.00199681	0.0016	0	0.0009	0.0177	0	0.0009	0	0.0004	0.0005951	92	154602	rs149841431	0.0005	0.0005	0.0005	0.0005	0.0113	0.0005	0.0005	0.0104	0.0100	3.063e-05	0.0001	3.933e-05	0.0113	0	0.0008	0.0002	0.0013	0.0002	0.0004	0.0004	0.0004	0.0004	0.0077	0.0003	0.0003	0.0058	0.0052	2.405e-05	0	0.0002	0	0.0077	0	0	0.0002	0	0.0002	0.014	0.54683	D	0.045	0.53072	D	0.984	0.60733	D	0.657	0.52725	P	.	.	.	.	1	0.08975	N	.	.	.	2.92	0.09915	T	-3.89	0.72932	D	0.451	0.54496	-1.0351	0.18825	T	0.021	0.08870	T	9	0.008435458	0.00191	T	.	.	.	0.116	0.32463	.	.	0.043077524339	0.03247	0.3536070732219398	0.35274	0.268968767611	0.29410	0.315468013287	0.12735	T	0.017024	0.13960	T	-0.583273	0.00184	T	-0.605058	0.12390	T	0.0566160685719509	0.06624	T	0.972478	0.90093	D	0.1972492	0.41583	0.19035357	0.42434	0.1972492	0.41583	0.19035357	0.42433	-9.927	0.73473	D	0.12739472640337274	0.13034	0.359	0.57963	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.823488	0.37201	20.4	0.9960632599452578	0.74516	0.10167	0.15747	N	AEFDBI	0.137334	0.25828	N	-0.0244544625795005	0.40749	2.425404	-0.0992705148564682	0.35421	2.049057	0.0500762480769179	0.14827	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.54	1.73	0.23565	0.561000	0.23220	-0.450000	0.09105	0.583000	0.30283	0.143000	0.23551	0.000000	0.08366	0.417000	0.27162	0.1243:0.4283:0.3547:0.0926	4.067	0.09341	969	0.06854	Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain|Link 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	0.002538	0.000000	0.004087	0.000000	0.000000	0.008621	0.003106	0.000000	0.07143	1404.53	39	chr15	88847317	.	C	T	1404.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.68;DP=299;ExcessHet=0;FS=0.781;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.678;SOR=0.602	GT:AD:DP:GQ:PL	0/1:43,50:93:99:1415,0,973	6	0	1	0
chr15	88859079	88859079	C	T	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.C6494T:p.P2165L,ACAN:NM_001369268:exon12:c.C6494T:p.P2165L,ACAN:NM_013227:exon12:c.C6494T:p.P2165L	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	3298501	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00663874360172	.	0.000199681	6.634e-05	0	8.64e-05	0	0	7.508e-05	0	0.0001	5.82e-05	9	154602	rs540453723	6.5e-05	6.498e-05	5.037e-05	7.977e-05	0.0012	5.429e-05	5.042e-05	0.0006	0.0004	2.987e-05	6.708e-05	0	0	0	0.0012	4.677e-05	0.0001	0.0003	5.252e-05	5.249e-05	7.71e-05	2.684e-05	0.0002	2.555e-05	1.829e-05	3.762e-05	2.575e-05	0	0	6.535e-05	0	0	0	0	8.82e-05	0	0.0002	0.023	0.48186	D	0.159	0.31527	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.02341	T	-6.08	0.90976	D	0.075	0.08088	-0.9812	0.34724	T	0.011	0.04227	T	9	0.08658934	0.14733	T	0.006639	0.17529	T	0.033	0.08068	.	.	0.043077524339	0.03247	0.25210518492392314	0.25124	0.244393863738	0.26944	0.2676872015	0.05841	T	.	.	.	-0.471344	0.00834	T	-0.614505	0.11622	T	0.0381375315688783	0.03355	T	0.744226	0.37327	T	0.07296229	0.16269	0.09664733	0.22973	0.07296229	0.16268	0.09664733	0.22972	-5.478	0.41662	T	0.1273380758267501	0.13021	0.093	0.31048	B	.;.;.;.;.;.	.;.;.;.;.;.	0.470893	0.08402	5.160	0.99610183571755584	0.74753	0.16677	0.19499	N	AEFBI	0.098953	0.19929	N	-0.545360417908687	0.20628	1.088906	-0.626060729129062	0.18824	1.007323	0.0364625244873343	0.14246	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.06	2.99	0.33673	-0.291000	0.08379	-5.891000	0.01562	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.2965:0.5972:0.0:0.1063	5.464	0.15929	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.000000	0.07143	1612.45	75	chr15	88859079	.	C	T	1612.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.772;DP=609;ExcessHet=0;FS=1.261;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=1.07;SOR=0.574	GT:AD:DP:GQ:PL	0/1:86,70:156:99:1623,0,2168	6	0	1	0
chr15	90231459	90231459	C	T	exonic	CIB1	.	nonsynonymous SNV	CIB1:NM_001277764:exon4:c.G364A:p.A122T,CIB1:NM_006384:exon4:c.G244A:p.A82T	.	421	1097	4	0	0	4	0.00181984	.	.	YES	1157572	not_provided|CIB1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.098	.	.	0.00519169	0.0035	0	0.0003	0.0002	0	0	0.0011	0.0250	0.0029624	458	154602	rs562237879	0.0015	0.0015	0.0008	0.0022	0.0240	0.0015	0.0014	0.0232	0.0228	2.987e-05	2.236e-05	0	0	0	0.0019	1.439e-05	0.0018	0.0240	0.0008	0.0008	0.0003	0.0013	0.0250	0.0007	0.0007	0.0214	0.0200	0	0	6.536e-05	0	0.0002	0	0	1.47e-05	0.0005	0.0250	0.748	0.03609	T	0.439	0.13365	T	0.0	0.02946	B	0.0	0.01387	B	0.139973	0.02877	N	1.677480	1	0.08975	N	0	0.06538	N	2.96	0.09542	T	-0.08	0.08187	N	0.13	0.16447	-0.9823	0.34468	T	0.018	0.07565	T	10	0.0018526614	0.00025	T	.	.	.	0.098	0.28162	0.27	0.21893	0.104622674875	0.10061	0.2278705604284973	0.22702	0.155556298816	0.17554	0.26748585701	0.05815	T	0.134338	0.46552	T	-0.773564	0.00012	T	-0.865694	0.00784	T	0.0076744546124589	0.00089	T	0.148285	0.01234	T	0.10853205	0.25661	0.092734426	0.21870	0.10853205	0.25661	0.092734426	0.21869	-3.041	0.11022	T	.	.	0.067	0.02488	B	.;.	.;.	0.042038	0.04581	1.258	0.84514030562110309	0.15336	0.03839	0.09189	N	ALL	0.106545	0.21255	N	-1.43471751007714	0.02340	0.1031962	-1.46088107625463	0.02673	0.1233793	0.999999960542485	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	4.63	-4.86	0.02902	-3.285000	0.00583	-0.717000	0.07722	-0.751000	0.03586	0.000000	0.06391	0.000000	0.08366	0.842000	0.39752	0.0:0.5997:0.0:0.4003	15.273	0.73416	587	0.69154	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.011364	0.1429	1019.23	33	chr15	90231459	.	C	T	1019.23	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.229;DP=292;ExcessHet=0.3476;FS=0.753;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.167;SOR=0.581	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1012,0,1169	5	0	2	0
chr15	90880119	90880119	C	T	exonic	FURIN	.	nonsynonymous SNV	FURIN:NM_001289823:exon13:c.C1402T:p.R468W,FURIN:NM_001289824:exon13:c.C1402T:p.R468W,FURIN:NM_001382619:exon13:c.C1402T:p.R468W,FURIN:NM_001382620:exon13:c.C1402T:p.R468W,FURIN:NM_001382621:exon13:c.C1402T:p.R468W,FURIN:NM_001382622:exon13:c.C1402T:p.R468W,FURIN:NM_002569:exon13:c.C1402T:p.R468W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0961642448343	.	.	3.49e-05	0	8.856e-05	0	0	0	0	0.0002	3.23e-05	5	154602	rs769249196	3.848e-05	4.31e-05	2.322e-05	5.395e-05	0.0004	3.039e-05	2.732e-05	0.0003	0.0003	2.993e-05	2.248e-05	0	0	0	0	1.354e-05	3.333e-05	0.0004	8.533e-05	8.53e-05	6.422e-05	0.0001	0.0012	4.952e-05	3.959e-05	0.0005	0.0004	0.0001	0	6.532e-05	0	0	0	0	1.47e-05	0	0.0012	0.002	0.72154	D	0.005	0.72224	D	0.998	0.73220	D	0.702	0.54226	P	0.000477	0.44119	D	0.226096	0.999941	0.51968	D	2.31	0.66127	M	-0.09	0.64086	T	-3.43	0.67359	D	0.64	0.65245	-0.4471	0.70496	T	0.288	0.65968	T	10	0.5989487	0.66802	D	0.096164	0.76556	D	0.242	0.54781	0.36	0.36385	0.546836033694	0.54339	0.6301387406934317	0.62947	0.348214224296	0.36698	0.419131785631	0.27718	T	0.842852	0.96351	D	-0.172699	0.24828	T	-0.167773	0.57646	T	0.441896559049967	0.30499	T	0.835616	0.50622	T	0.42285648	0.62281	0.23213987	0.48365	0.42285648	0.62282	0.23213987	0.48364	-7.895	0.60352	D	.	.	0.184	0.40810	B	.;.;.	.;.;.	5.152486	0.86305	28.9	0.99902109959688346	0.97350	0.91280	0.53216	D	AEFDGBHCI	0.890052	0.82471	D	0.395836189187936	0.61194	4.317479	0.34426762179504	0.58164	3.985303	0.999999976748108	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.65	4.65	0.57626	3.249000	0.51138	5.916000	0.51093	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.614000	0.31742	0.1632:0.8368:0.0:0.0	12.827	0.57110	697	0.58201	P domain;P domain;P 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	0.003049	0.000000	0.07143	1371.44	33	chr15	90880119	.	C	T	1371.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.864;DP=301;ExcessHet=0;FS=2.363;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.36;SOR=0.888	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1382,0,1431	6	0	1	0
chr15	90953279	90953279	G	A	exonic	UNC45A	.	nonsynonymous SNV	UNC45A:NM_001323620:exon19:c.G2111A:p.R704Q,UNC45A:NM_001323621:exon19:c.G2501A:p.R834Q,UNC45A:NM_018671:exon19:c.G2546A:p.R849Q,UNC45A:NM_001323619:exon20:c.G2546A:p.R849Q,UNC45A:NM_001039675:exon22:c.G2501A:p.R834Q	.	417	1104	1	0	0	1	0.000452694	.	.	.	2347454	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.00749462576477	.	0.000199681	8.42e-05	0	0	0	0	1.52e-05	0	0.0006	7.12e-05	11	154602	rs561364913	5.89e-05	5.883e-05	3.543e-05	8.261e-05	0.0007	4.882e-05	4.501e-05	0.0006	0.0005	0	0	0	0	0	0	1.619e-05	8.287e-05	0.0007	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0	0	0	0	0	0.0002	0.487	0.08067	T	0.702	0.05707	T	0.0	0.02946	B	0.0	0.01387	B	0.389890	0.13270	N	0.737741	0.929476	0.27095	N	-1.5	0.00507	N	0.84	0.47477	T	0.72	0.02099	N	0.217	0.24634	-1.0268	0.21494	T	0.030	0.12760	T	10	0.023026586	0.00591	T	0.007495	0.19872	T	0.075	0.21907	0.394	0.41935	0.355865052028	0.35192	0.05851888172700229	0.05792	0.149300499438	0.16836	0.396927118301	0.24642	T	0.02301	0.17639	T	-0.526378	0.00404	T	-0.629719	0.10436	T	0.053184015274744	0.06051	T	0.845015	0.52723	T	0.019146184	0.00440	0.029913332	0.01383	0.019146184	0.00440	0.029913332	0.01383	-5.782	0.47525	T	.	.	0.092	0.15206	B	.;.;.	.;.;.	2.683102	0.35009	19.78	0.98831589925511809	0.46969	0.56248	0.30069	D	AEFDGBCI	0.196730	0.32369	N	-0.5667419043012	0.19962	1.048814	-0.287084821492515	0.28523	1.591034	0.999995080926087	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.57	3.44	0.38486	1.689000	0.37319	5.362000	0.48403	0.669000	0.69127	0.921000	0.31989	1.000000	0.68203	0.873000	0.41610	0.3297:0.0:0.3645:0.3058	3.251	0.06413	529	0.73716	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	987.83	34	chr15	90953279	.	G	A	987.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.2;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=1.72;SOR=0.723	GT:AD:DP:GQ:PL	0/1:47,38:85:99:998,0,1273	6	0	1	0
chr15	91005103	91005103	G	C	exonic	VPS33B	.	nonsynonymous SNV	VPS33B:NM_001289148:exon14:c.C1041G:p.F347L,VPS33B:NM_001289149:exon14:c.C849G:p.F283L,VPS33B:NM_018668:exon15:c.C1122G:p.F374L	Arthrogryposis, renal dysfunction, and cholestasis 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.0260435819066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.851	0.03497	T	0.055	0.22733	B	0.039	0.23986	B	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	1.04	0.26193	L	-0.89	0.74793	T	0.32	0.04306	N	0.642	0.66101	-0.9698	0.37242	T	0.173	0.51595	T	10	0.53202784	0.63238	D	0.026044	0.48985	D	0.409	0.72099	0.647	0.78436	0.584859779323	0.58159	0.46447104781845744	0.46366	0.203462743921	0.22764	0.769844174385	0.77402	T	0.174941	0.52435	T	0.277815	0.81127	D	0.161286	0.80884	D	0.491662442684174	0.32325	T	0.939506	0.77228	D	0.06559569	0.14035	0.06052036	0.11539	0.06559569	0.14035	0.06052036	0.11538	-6.388	0.49416	T	0.3420899351597581	0.43979	0.869	0.80838	P	.;.	.;.	2.047437	0.26028	16.97	0.94572385614005527	0.25108	0.93318	0.57896	D	AEFDGBI	0.282867	0.39610	N	-0.516704663467983	0.21539	1.143873	-0.340267695366155	0.26811	1.48343	0.999999331737377	0.74766	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.04	4.17	0.48303	2.173000	0.42099	3.412000	0.38196	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.283000	0.24091	0.287:0.0:0.713:0.0	7.769	0.28160	432	0.80690	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1010.27	35	chr15	91005103	.	G	C	1010.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.418;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.108;SOR=0.644	GT:AD:DP:GQ:PL	0/1:36,38:74:99:1020,0,979	5	0	1	1
chr15	94470347	94470347	C	T	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001385010:exon18:c.C1712T:p.T571M,MCTP2:NM_001385004:exon19:c.C2210T:p.T737M,MCTP2:NM_001159643:exon20:c.C2210T:p.T737M,MCTP2:NM_001385005:exon20:c.C2333T:p.T778M,MCTP2:NM_001385006:exon20:c.C2252T:p.T751M,MCTP2:NM_001385009:exon20:c.C1877T:p.T626M,MCTP2:NM_001385001:exon21:c.C2375T:p.T792M,MCTP2:NM_001385003:exon21:c.C2375T:p.T792M,MCTP2:NM_001385002:exon22:c.C2375T:p.T792M,MCTP2:NM_018349:exon22:c.C2375T:p.T792M,MCTP2:NM_001385007:exon23:c.C2093T:p.T698M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.0912683341171	.	.	4.119e-05	0	8.642e-05	0.0001	0	4.496e-05	0	0	3.88e-05	6	154602	rs570221748	1.781e-05	2.052e-05	1.636e-05	1.927e-05	0.0002	1.239e-05	1.053e-05	2.996e-05	2.038e-05	0	4.473e-05	0	5.04e-05	0	0.0002	1.171e-05	3.315e-05	6.96e-05	1.972e-05	1.97e-05	0	4.036e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.97	0.76916	D	0.000005	0.62929	D	0.109289	0.999969	0.52935	D	3.2	0.89116	M	-0.35	0.68616	T	-4.31	0.78222	D	0.684	0.72120	0.002	0.82291	D	0.484	0.80301	T	10	0.7336463	0.74470	D	0.091268	0.75675	D	0.443	0.74588	0.479	0.55823	0.53104733087	0.52752	0.6654961884117682	0.66486	0.154882509621	0.17493	0.616541564465	0.55240	T	0.287151	0.65995	T	0.0515494	0.58543	T	0.0619725	0.74375	D	0.893883228302002	0.54518	D	0.990041	0.96927	D	0.45788476	0.64539	0.5042652	0.71345	0.45788476	0.64540	0.5042652	0.71345	-11.019	0.84443	D	.	.	0.330	0.55208	B	.;.	.;.	4.740843	0.76452	26.5	0.99885545256151553	0.96049	0.97902	0.77993	D	AEFI	0.814661	0.73683	D	0.814074181744828	0.86979	9.06216	0.778680703644416	0.88275	9.521248	0.998610252336283	0.37309	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	6.011000	0.70418	5.953000	0.51684	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.8573:0.1426:0.0	14.931	0.70561	970	0.06235	.;Phosphoribosyltransferase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	56.49	50	chr15	94470347	.	C	T	56.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.161;DP=254;ExcessHet=0;FS=15.721;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=1.09;SOR=3.911	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,6:63:67:0|1:94470347_C_T:67,0,2346:94470347	6	0	1	0
chr15	94470351	94470354	CCCC	-	exonic	MCTP2	.	frameshift deletion	MCTP2:NM_001385010:exon18:c.1716_1719del:p.P573Sfs*8,MCTP2:NM_001385004:exon19:c.2214_2217del:p.P739Sfs*8,MCTP2:NM_001159643:exon20:c.2214_2217del:p.P739Sfs*8,MCTP2:NM_001385005:exon20:c.2337_2340del:p.P780Sfs*8,MCTP2:NM_001385006:exon20:c.2256_2259del:p.P753Sfs*8,MCTP2:NM_001385009:exon20:c.1881_1884del:p.P628Sfs*8,MCTP2:NM_001385001:exon21:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_001385003:exon21:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_001385002:exon22:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_018349:exon22:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_001385007:exon23:c.2097_2100del:p.P700Sfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.439e-05	0.0003	1.5e-05	1.377e-05	2.32e-05	9.25e-06	7.85e-06	9.33e-06	7.63e-06	0	0	7.659e-05	0	0	0	1.532e-05	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	44.4	53	chr15	94470350	.	TCCCC	T	44.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=264;ExcessHet=0;FS=15.961;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.398;SOR=3.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,6:67:55:0|1:94470347_C_T:55,0,2486:94470347	6	0	1	0
chr15	94470355	94470355	-	GGGTTG	exonic	MCTP2	.	nonframeshift insertion	MCTP2:NM_001385010:exon18:c.1720_1721insGGGTTG:p.F574delinsWVV,MCTP2:NM_001385004:exon19:c.2218_2219insGGGTTG:p.F740delinsWVV,MCTP2:NM_001159643:exon20:c.2218_2219insGGGTTG:p.F740delinsWVV,MCTP2:NM_001385005:exon20:c.2341_2342insGGGTTG:p.F781delinsWVV,MCTP2:NM_001385006:exon20:c.2260_2261insGGGTTG:p.F754delinsWVV,MCTP2:NM_001385009:exon20:c.1885_1886insGGGTTG:p.F629delinsWVV,MCTP2:NM_001385001:exon21:c.2383_2384insGGGTTG:p.F795delinsWVV,MCTP2:NM_001385003:exon21:c.2383_2384insGGGTTG:p.F795delinsWVV,MCTP2:NM_001385002:exon22:c.2383_2384insGGGTTG:p.F795delinsWVV,MCTP2:NM_018349:exon22:c.2383_2384insGGGTTG:p.F795delinsWVV,MCTP2:NM_001385007:exon23:c.2101_2102insGGGTTG:p.F701delinsWVV	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	44.4	57	chr15	94470355	.	T	TGGGTTG	44.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.744;DP=464;ExcessHet=0;FS=15.961;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.395;SOR=3.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,6:67:55:0|1:94470347_C_T:55,0,2486:94470347	6	0	1	0
chr15	94470357	94470358	CC	-	exonic	MCTP2	.	frameshift deletion	MCTP2:NM_001385010:exon18:c.1722_1723del:p.L575Ffs*31,MCTP2:NM_001385004:exon19:c.2220_2221del:p.L741Ffs*31,MCTP2:NM_001159643:exon20:c.2220_2221del:p.L741Ffs*31,MCTP2:NM_001385005:exon20:c.2343_2344del:p.L782Ffs*31,MCTP2:NM_001385006:exon20:c.2262_2263del:p.L755Ffs*31,MCTP2:NM_001385009:exon20:c.1887_1888del:p.L630Ffs*31,MCTP2:NM_001385001:exon21:c.2385_2386del:p.L796Ffs*31,MCTP2:NM_001385003:exon21:c.2385_2386del:p.L796Ffs*31,MCTP2:NM_001385002:exon22:c.2385_2386del:p.L796Ffs*31,MCTP2:NM_018349:exon22:c.2385_2386del:p.L796Ffs*31,MCTP2:NM_001385007:exon23:c.2103_2104del:p.L702Ffs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	35.4	57	chr15	94470356	.	TCC	T	35.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.745;DP=467;ExcessHet=0;FS=16.001;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.319;SOR=3.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,6:70:46:0|1:94470347_C_T:46,0,2572:94470347	6	0	1	0
chr15	94470362	94470362	C	T	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001385010:exon18:c.C1727T:p.S576L,MCTP2:NM_001385004:exon19:c.C2225T:p.S742L,MCTP2:NM_001159643:exon20:c.C2225T:p.S742L,MCTP2:NM_001385005:exon20:c.C2348T:p.S783L,MCTP2:NM_001385006:exon20:c.C2267T:p.S756L,MCTP2:NM_001385009:exon20:c.C1892T:p.S631L,MCTP2:NM_001385001:exon21:c.C2390T:p.S797L,MCTP2:NM_001385003:exon21:c.C2390T:p.S797L,MCTP2:NM_001385002:exon22:c.C2390T:p.S797L,MCTP2:NM_018349:exon22:c.C2390T:p.S797L,MCTP2:NM_001385007:exon23:c.C2108T:p.S703L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0935192924643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	1.368e-06	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.984	0.90584	D	0.961	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.395	0.91620	M	-0.63	0.72011	T	-5.26	0.86527	D	0.943	0.95021	0.362	0.88524	D	0.614	0.86371	D	10	0.83966553	0.83120	D	0.093519	0.76087	D	0.679	0.88205	0.46	0.52753	0.531197343622	0.52768	0.9347453748121666	0.93454	0.150609652271	0.16984	0.655122160912	0.60713	T	0.29197	0.66471	T	0.367474	0.87836	D	0.290074	0.87680	D	0.997657656669617	0.92088	D	0.996511	0.98937	D	0.77550274	0.82379	0.7567695	0.85626	0.77550274	0.82380	0.7567695	0.85627	-13.558	0.91531	D	.	.	0.782	0.76452	P	.;.	.;.	4.649204	0.74094	26.1	0.99919068662769805	0.98586	0.98283	0.81242	D	AEFI	0.817186	0.73873	D	0.808613687701703	0.86641	8.951	0.7330101224514	0.84882	8.418209	0.99999999727962	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	6.032000	0.70562	7.639000	0.63104	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.845000	0.39915	0.0:1.0:0.0:0.0	19.381	0.94526	970	0.06235	.;Phosphoribosyltransferase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	35.49	37	chr15	94470362	.	C	T	35.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.893;DP=270;ExcessHet=0;FS=16.001;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.409;SOR=3.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,6:70:46:0|1:94470347_C_T:46,0,2572:94470347	6	0	1	0
chr15	101066723	101066723	G	A	exonic	LRRK1	.	nonsynonymous SNV	LRRK1:NM_024652:exon33:c.G5852A:p.R1951Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0307460432469	.	.	2.484e-05	0	0.0002	0	0	0	0	6.058e-05	1.94e-05	3	154602	rs777863487	1.573e-05	1.642e-05	1.906e-05	1.238e-05	0.0002	1.048e-05	8.75e-06	7.281e-05	5.161e-05	0	0.0002	7.652e-05	2.519e-05	3.745e-05	0	7.195e-06	1.656e-05	2.319e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	4.824e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.467	0.08559	T	0.331	0.18505	T	0.967	0.56408	D	0.203	0.37000	B	0.001107	0.40219	N	0.160603	0.995605	0.23248	N	1.5	0.37844	L	-0.69	0.72678	T	-0.19	0.09965	N	0.369	0.41063	-0.7103	0.59937	T	0.234	0.60075	T	10	0.20246765	0.36367	T	0.030746	0.52991	D	0.147	0.38986	0.363	0.36874	0.828067662937	0.82643	0.42654285092857946	0.42571	0.774646332818	0.64958	0.472289115191	0.34995	T	0.013022	0.11342	T	-0.197817	0.21119	T	-0.324956	0.42028	T	0.392703324556351	0.28667	T	0.948405	0.80130	D	0.07354744	0.16441	0.048213277	0.07112	0.07354744	0.16441	0.048213277	0.07112	-3.438	0.15573	T	.	.	0.087	0.11220	B	.	.	4.259989	0.64735	24.7	0.99920057114095628	0.98654	0.85681	0.44840	D	AEFDGBCI	0.345544	0.44066	N	0.261988190760621	0.54236	3.589545	0.319432046339398	0.56681	3.831949	0.999999970080553	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.608075	0.38828	0	0.727631	0.95156	0	.	.	5.51	5.51	0.81769	3.391000	0.52271	11.785000	0.96215	0.676000	0.76740	0.734000	0.28964	1.000000	0.68203	0.981000	0.58702	0.0:0.1366:0.8634:0.0	15.738	0.77624	869	0.31655	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1603.45	36	chr15	101066723	.	G	A	1603.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.11;DP=355;ExcessHet=0;FS=1.323;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.117;SOR=0.856	GT:AD:DP:GQ:PL	0/1:84,66:150:99:1614,0,1886	6	0	1	0
chr16	553028	553063	CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	-	exonic	CAPN15	.	frameshift deletion	CAPN15:NM_005632:exon13:c.3070_3083del:p.P1024Afs*33	.	394	1108	19	1	0	21	0.00938757	.	.	.	2810703	CAPN15-related_disorder|not_provided|Oculogastrointestinal-neurodevelopmental_syndrome	.|MedGen:C3661900|MONDO:MONDO:0036189,MedGen:C5543355,OMIM:619318,Orphanet:611201	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0080	0.0021	0.0061	0.0001	0.0024	0.0119	0.0103	0.0029	5.17e-05	8	154602	rs1441582052	0.0061	0.0061	0.0060	0.0061	0.0077	0.0060	0.0059	0.0066	0.0065	0.0013	0.0043	0.0134	0	0.0035	0.0077	0.0067	0.0068	0.0024	0.0065	0.0071	0.0069	0.0061	0.0103	0.0062	0.0060	0.0096	0.0094	0.0016	0.0012	0.0055	0.0174	0	0.0022	0.0187	0.0103	0.0112	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1237.42	58	chr16	553027	.	GCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	G	1237.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.107;DP=384;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=30.94;ReadPosRankSum=2.51;SOR=0.883	GT:AD:DP:GQ:PL	0/1:10,30:40:99:1248,0,288	6	0	1	0
chr16	651903	651903	C	T	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon9:c.C917T:p.A306V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.0018667965023	8e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199867382	6.856e-06	6.84e-06	6.821e-06	6.891e-06	5.979e-05	3.47e-06	2.53e-06	9.9e-06	4.57e-06	5.979e-05	0	0	2.521e-05	0	0	3.598e-06	0	3.485e-05	2.627e-05	2.626e-05	3.853e-05	1.344e-05	7.234e-05	8.14e-06	5.14e-06	1.918e-05	1.032e-05	7.234e-05	0	0	0	0	0	0	1.47e-05	0	0	0.71	0.04056	T	0.306	0.19972	T	0.0	0.02946	B	0.0	0.01387	B	0.925304	0.07501	N	1.058450	1	0.08975	N	-0.83	0.01527	N	1.65	0.28391	T	0.19	0.04947	N	0.04	0.02088	-0.9953	0.31218	T	0.022	0.09193	T	10	0.03839308	0.02255	T	0.001867	0.03272	T	0.002	0.00045	.	.	0.0297737177859	0.01360	0.1330882897099553	0.13232	0.112582882049	0.12714	0.272616267204	0.06484	T	0.008099	0.07453	T	-0.532278	0.00372	T	-0.818966	0.01474	T	0.0354666437905742	0.02887	T	0.383762	0.09387	T	0.02217169	0.00863	0.02698386	0.00819	0.02217169	0.00862	0.02698386	0.00819	-4.087	0.25098	T	.	.	0.074	0.05060	B	.;.	.;.	-1.571742	0.00255	0.004	0.69617933108385655	0.09030	0.00178	0.01045	N	AEFBI	0.025325	0.01716	N	-1.8056017230812	0.00532	0.0228867	-1.80422119231964	0.00746	0.03323802	0.99999636521386	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	3.28	-2.28	0.06438	-3.826000	0.00401	-1.439000	0.05437	-3.042000	0.00133	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2296:0.1702:0.6002	4.435	0.10971	654	0.62520	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	932.27	39	chr16	651903	.	C	T	932.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.257;DP=249;ExcessHet=0;FS=6.575;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-1.424;SOR=1.459	GT:AD:DP:GQ:PL	0/1:33,35:68:99:942,0,799	5	0	1	1
chr16	728145	728145	C	A	exonic	HAGHL	.	nonsynonymous SNV	HAGHL:NM_032304:exon3:c.C200A:p.A67E,HAGHL:NM_001290137:exon4:c.C200A:p.A67E,HAGHL:NM_001290139:exon4:c.C200A:p.A67E,HAGHL:NM_001323635:exon4:c.C200A:p.A67E,HAGHL:NM_001323636:exon4:c.C200A:p.A67E,HAGHL:NM_001365282:exon4:c.C200A:p.A67E	.	467	1053	2	0	0	2	0.000948767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.303249849949	.	.	.	.	.	.	.	.	.	.	.	.	.	rs988712089	2.119e-05	2.531e-05	1.49e-05	2.767e-05	0.0013	1.469e-05	1.265e-05	0.0005	0.0003	0.0001	0	0	0	0	0.0013	1.331e-05	0.0001	0	2.63e-05	2.627e-05	3.856e-05	1.346e-05	2.941e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0064	2.941e-05	0	0	0.053	0.38863	T	0.326	0.25748	T	0.918	0.50838	P	0.642	0.52168	P	0.500285	0.11957	N	0.719300	0.999997	0.23164	N	2.29	0.65257	M	-1.43	0.80730	T	-2.65	0.58248	D	0.216	0.29197	-0.6038	0.64660	T	0.436	0.77618	T	10	0.33271962	0.50473	T	0.30325	0.90951	D	0.409	0.72099	0.625	0.76028	0.461144880706	0.45741	0.4579191614387459	0.45709	0.375647903983	0.39023	0.738799870014	0.72795	T	0.359528	0.74535	T	0.00828265	0.52790	T	-0.225879	0.52169	T	0.159510165452957	0.17835	T	0.910809	0.69352	D	0.20311321	0.42378	0.22405049	0.47305	0.20311321	0.42378	0.22405049	0.47304	-13.227	0.91913	D	.	.	0.336	0.58487	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.844717	0.23437	16.02	0.96226131564684614	0.29103	0.24772	0.22496	N	ALL	0.136992	0.25784	N	-0.561156519766851	0.20136	1.059247	-0.723862835607517	0.16367	0.8654937	0.999999999968711	0.74766	0.72623	0.87236	0	0.484254	0.07192	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	3.59	0.258	0.14835	-0.670000	0.05357	-5.904000	0.01558	0.500000	0.22704	0.000000	0.06391	0.000000	0.08366	0.503000	0.29084	0.0:0.4525:0.0:0.5475	5.010	0.13649	662	0.61715	.;Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL domain;.;Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL domain;Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL domain;.;Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL domain;Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL domain;Metallo-beta-lactamase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	88.92	3	chr16	728145	.	C	A	88.92	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.566;DP=27;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.566;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,4:8:98:98,0,109	5	0	1	1
chr16	1208033	1208033	G	T	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon16:c.G3175T:p.A1059S,CACNA1H:NM_021098:exon16:c.G3175T:p.A1059S	Hyperaldosteronism, familial, type IV, Autosomal dominant	0	1444	73	5	0	83	0.0279367	.	.	.	465787	not_provided|Hyperaldosteronism,_familial,_type_IV|Idiopathic_generalized_epilepsy	MedGen:C3661900|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671|MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.309	.	0.0075	0.00339457	0.0112	0.0030	0.0098	0	0.0021	0.0161	0.0187	0.0055	0.0068951	1066	154602	rs41292285	0.0096	0.0096	0.0097	0.0094	0.0398	0.0094	0.0094	0.0355	0.0339	0.0029	0.0066	0.0157	2.542e-05	0.0009	0.0398	0.0107	0.0109	0.0039	0.0071	0.0071	0.0074	0.0067	0.0112	0.0067	0.0066	0.0099	0.0093	0.0021	0.0011	0.0112	0.0208	0.0002	0.0009	0.0442	0.0100	0.0085	0.0037	0.555	0.06523	T	0.662	0.06469	T	0.905	0.49920	P	0.341	0.42432	B	0.992969	0.07914	N	1.003600	0.887463	0.27942	N	1.79	0.46772	L	-4.03	0.96434	D	-1.04	0.27259	N	0.472	0.53093	-0.0529	0.81145	T	0.655	0.88008	D	10	0.007585913	0.00172	T	.	.	.	0.309	0.63055	.	.	0.883948665633	0.88281	0.3793789858365737	0.37852	.	.	0.327532410622	0.14562	T	0.114747	0.43281	T	-0.263326	0.12513	T	-0.138702	0.60230	T	0.0216457835336318	0.00869	T	0.756624	0.37993	T	0.0808451	0.18545	0.072690524	0.15711	0.10385378	0.24548	0.06867416	0.14371	-6.321	0.49992	T	0.16516393160379791	0.20456	0.106	0.19760	B	.;.;.;.	.;.;.;.	2.718695	0.35558	19.93	0.74670761799237328	0.10783	0.92976	0.57013	D	AEFDBCI	0.614563	0.60183	D	-0.0423056242353998	0.39945	2.364079	-0.0665608124545789	0.36781	2.145014	0.0152303038141063	0.12689	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.01	3.02	0.33970	4.898000	0.62925	6.437000	0.55645	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.119000	0.19126	0.0:0.0:0.8251:0.1749	11.950	0.52235	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.038810	0.025510	0.046322	0.076023	0.000000	0.034483	0.021341	0.018939	0.07143	1036.49	44	chr16	1208033	.	G	T	1036.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.089;DP=313;ExcessHet=0;FS=0.753;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.027;SOR=0.836	GT:AD:DP:GQ:PL	0/1:58,43:101:99:1047,0,1416	6	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	418.93	32	chr16	1397277	.	A	*	418.93	.	AC=9;AF=0.75;AN=12;DP=345;ExcessHet=0.4139;FS=0.651;MLEAC=10;MLEAF=0.833;MQ=60;QD=1.76;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,41:42:90:.:.:1439,90,0:.	0	3	3	1
chr16	1487699	1487699	C	T	exonic	PTX4	.	nonsynonymous SNV	PTX4:NM_001013658:exon2:c.G398A:p.R133Q,PTX4:NM_001328608:exon2:c.G413A:p.R138Q	.	.	.	.	.	.	.	.	.	.	.	2731942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.005982567224	.	.	0.0003	0.0002	0	0.0014	0.0006	0.0001	0.0012	0.0003	0.0002005	31	154602	rs570112487	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	8.971e-05	0	0	0.0004	0.0002	0	0.0002	8.297e-05	0.0003	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	9.234e-05	0.0002	8.992e-05	0.0002	0	0	0	0.0004	0.0004	0	7.353e-05	0.0009	0.0006	0.536	0.12878	T	0.69	0.07292	T	0.0	0.02946	B	0.001	0.04355	B	0.000592	0.00643	N	4.725830	1	0.18198	N	-0.28	0.03718	N	3.61	0.05130	T	0.61	0.02480	N	0.051	0.02559	-0.9366	0.43149	T	0.012	0.04653	T	10	0.008454621	0.00192	T	0.005983	0.15608	T	0.026	0.05648	.	.	0.0401082797425	0.02173	0.027717842410506108	0.02721	0.233150569731	0.25850	0.205734416842	0.00643	T	0.003291	0.02698	T	-0.690304	0.00042	T	-0.794429	0.02045	T	0.0140042901142811	0.00270	T	0.50265	0.15781	T	0.019876495	0.00529	0.05665677	0.10162	0.019876495	0.00529	0.05665677	0.10161	-3.427	0.21044	T	.	.	0.070	0.03336	B	.;.	.;.	-0.836439	0.01037	0.044	0.78273523545525525	0.12230	0.01134	0.04120	N	AEFDBHCIJ	0.037473	0.05159	N	-1.8670527825008	0.00401	0.01723838	-1.88922159107741	0.00514	0.02278652	0.999999832276607	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.67	-5.37	0.02472	-0.928000	0.04088	-5.772000	0.01601	-1.599000	0.00895	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4739:0.0:0.5261	13.884	0.63197	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	438.46	34	chr16	1487699	.	C	T	438.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.502;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.455;SOR=0.713	GT:AD:DP:GQ:PL	0/1:28,19:47:99:449,0,707	6	0	1	0
chr16	2115565	2115565	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon10:c.C1910T:p.A637V,PKD1:NM_001009944:exon10:c.C1910T:p.A637V	Polycystic kidney disease, adult type I, Autosomal dominant	511	978	33	0	0	33	0.0165913	.	.	.	1867778	Polycystic_kidney_disease,_adult_type	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.0534633280181	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1324355778	4.171e-06	0.0001	6.913e-06	1.398e-06	1.819e-06	1.5e-06	9.9e-07	3e-07	1.1e-07	0	0	3.886e-05	0	5.971e-05	0	1.819e-06	0	0	2.655e-05	0.0003	1.297e-05	4.08e-05	0.0002	8.2e-06	5.18e-06	.	.	2.445e-05	0	6.594e-05	0	0	0	0	1.484e-05	0	0.0002	0.546	0.06669	T	1.0	0.01155	T	0.007	0.14184	B	0.004	0.12133	B	0.431197	0.12746	N	0.741456	1	0.08975	N	0.64	0.16041	N	1.3	0.35590	T	-0.32	0.12283	N	0.066	0.03841	-0.9771	0.35660	T	0.051	0.21883	T	10	0.047445476	0.04062	T	0.053463	0.65479	D	0.013	0.01715	0.209	0.12639	0.340919117937	0.33698	0.20406219076281423	0.20323	.	.	0.288482248783	0.08702	T	0.152567	0.49302	T	-0.323373	0.06626	T	-0.702279	0.05702	T	0.0417249462178994	0.04004	T	0.339066	0.07293	T	0.018118778	0.00334	0.028770795	0.01144	0.018118778	0.00334	0.028770795	0.01144	-4.194	0.26665	T	0.1049183383087965	0.08259	0.076	0.05845	B	.;.	.;.	-0.438832	0.02071	0.191	0.74349038070323958	0.10662	0.01644	0.05287	N	AEFBI	0.049109	0.08451	N	-1.78608120196869	0.00580	0.02499262	-1.83827809865499	0.00644	0.02863882	0.348052764701403	0.19653	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.9	-3.83	0.03988	-0.439000	0.06967	0.727000	0.21057	-1.633000	0.00850	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.434:0.0934:0.4726:0.0	9.138	0.36047	650	0.62973	Polycystin cation channel;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1429	39.42	35	chr16	2115565	.	G	A	39.42	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.37;DP=310;ExcessHet=0.3476;FS=32.434;MLEAC=2;MLEAF=0.143;MQ=51.16;MQRankSum=-4.414;QD=0.25;ReadPosRankSum=-2.322;SOR=4.957	GT:AD:DP:GQ:PL	0/1:76,9:85:35:35,0,1967	5	0	2	0
chr16	2181299	2181299	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C2069T:p.T690M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0352485557079	.	0.000798722	0.0003	0	9.994e-05	0	0.0002	0	0	0.0019	0.0002199	34	154602	rs563407426	0.0001	0.0001	7.268e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	0	0	0	0	0	1.08e-05	6.647e-05	0.0019	7.885e-05	7.875e-05	6.43e-05	9.406e-05	0.0019	4.497e-05	3.512e-05	0.0010	0.0007	0	0	6.532e-05	0	0	0	0	2.942e-05	0	0.0019	0.203	0.20154	T	0.261	0.22962	T	0.054	0.22658	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.69	0.01958	N	-0.16	0.65378	T	-0.5	0.15782	N	0.103	0.08646	-1.0396	0.17434	T	0.086	0.33578	T	9	0.006239295	0.00141	T	0.035249	0.56218	D	0.076	0.22200	0.157	0.06070	0.358048530964	0.35414	0.10973794465052185	0.10902	0.292227793806	0.31634	0.424947202206	0.28518	T	0.008963	0.08187	T	-0.574848	0.00207	T	-0.605769	0.12331	T	0.0163734000603643	0.00405	T	0.469153	0.13854	T	0.014155587	0.00083	0.03161068	0.01775	0.014155587	0.00083	0.03161068	0.01775	-5.83	0.44835	T	.	.	0.072	0.04238	B	.	.	-0.261693	0.02790	0.381	0.69226453992991877	0.08905	0.02166	0.06356	N	AEFBI	0.043423	0.06864	N	-1.27035507953188	0.04037	0.1814754	-1.28520940571177	0.04630	0.2188295	0.00467307351188698	0.10667	0.554377	0.28877	0	0.588066	0.40923	0	0.584781	0.30282	0	0.604944	0.38103	0	.	.	4.36	-0.549	0.11237	-1.882000	0.01716	-0.403000	0.09398	-0.717000	0.03845	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.4094:0.1512:0.2918:0.1476	1.145	0.01665	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	0.001515	0.000000	0.004087	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	726.53	31	chr16	2181299	.	G	A	726.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.538;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-1.409;SOR=0.711	GT:AD:DP:GQ:PL	0/1:38,32:70:99:737,0,866	6	0	1	0
chr16	2246926	2246926	G	A	exonic	ECI1	.	nonsynonymous SNV	ECI1:NM_001178029:exon3:c.C227T:p.T76M,ECI1:NM_001919:exon3:c.C227T:p.T76M	.	429	1039	50	4	0	58	0.0271536	.	.	.	967234	Complex_I_deficiency|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.425	.	0.0028	0.00658946	0.0083	0.0006	0.0030	0	0.0017	0.0055	0.0089	0.0349	0.007432	1149	154602	rs112729404	0.0053	0.0053	0.0042	0.0064	0.0349	0.0052	0.0051	0.0338	0.0334	0.0010	0.0021	0.0174	7.557e-05	0.0016	0.0282	0.0031	0.0067	0.0349	0.0036	0.0036	0.0032	0.0041	0.0299	0.0034	0.0033	0.0259	0.0244	0.0007	0	0.0026	0.0135	0.0004	0.0012	0.0646	0.0037	0.0033	0.0299	0.072	0.34982	T	0.072	0.48336	T	0.943	0.55554	P	0.344	0.42549	B	0.000000	0.84330	N	0.050039	1	0.81001	D	2.23	0.63091	M	-0.37	0.68892	T	-3.35	0.66436	D	0.467	0.51851	-0.7118	0.59864	T	0.228	0.59372	T	10	0.0073796213	0.00168	T	.	.	.	0.425	0.73299	.	.	0.353125101423	0.34923	0.791210419671449	0.79073	0.23438854129	0.25976	0.49139213562	0.37632	T	0.400195	0.75784	T	-0.173626	0.24687	T	0.00358432	0.70568	D	0.0677868819702007	0.08337	T	0.89861	0.64536	D	0.44832537	0.63935	0.29479742	0.55511	0.44832537	0.63936	0.29479742	0.55510	-7.575	0.58136	D	.	.	0.157	0.46949	B	.;.;.;.	.;.;.;.	3.230173	0.44050	21.9	0.88066581068473471	0.17691	0.95841	0.66383	D	AEFBCI	0.818677	0.73988	D	-0.134269476967074	0.35905	2.068471	-0.218506891995213	0.30872	1.742091	0.605736620092496	0.21763	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	3.22	0.36041	6.130000	0.71403	8.347000	0.77005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0817:0.1478:0.7705:0.0	9.082	0.35717	556	0.71678	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.025706	0.015152	0.010870	0.032164	0.050000	0.008621	0.036810	0.049242	0.1429	901.34	27	chr16	2246926	.	G	A	901.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.56;DP=225;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.63;SOR=0.739	GT:AD:DP:GQ:PL	0/1:24,30:54:99:646,0,560	5	0	2	0
chr16	2770683	2770683	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon14:c.C8215T:p.P2739S	.	430	996	89	7	0	103	0.0491647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	0.0023	0.00958466	0.0188	0.0018	0.0151	0	0	0.0053	0.025	0.0420	0.0049482	765	154602	rs138495768	0.0047	0.0047	0.0036	0.0058	0.0438	0.0046	0.0046	0.0394	0.0377	0.0007	0.0026	0.0042	2.763e-05	0.0001	0.0438	0.0025	0.0065	0.0388	0.0035	0.0035	0.0029	0.0041	0.0344	0.0032	0.0031	0.0301	0.0285	0.0006	0	0.0060	0.0026	0.0002	0	0.0306	0.0031	0.0066	0.0344	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000011	0.62929	D	0.000000	0.720634	0.33614	D	0.55	0.14455	N	0.33	0.58323	T	-1.53	0.37178	N	0.386	0.42737	-0.4492	0.70427	T	0.192	0.54389	T	10	0.007466644	0.00170	T	.	.	.	0.190	0.46781	.	.	0.595214673487	0.59199	0.12494821746765934	0.12420	.	.	0.456650614738	0.32852	T	0.215958	0.57798	T	-0.330918	0.06043	T	-0.219549	0.52781	T	0.0301538723058847	0.02013	T	0.748625	0.36937	T	0.36156985	0.57956	0.40821308	0.65145	0.36156985	0.57956	0.40821308	0.65145	-4.674	0.33088	T	.	.	0.131	0.28174	B	.	.	3.829761	0.55346	23.6	0.947188900019729	0.25389	0.82683	0.41877	D	AEFDGBHCI	0.632421	0.61304	D	0.504954797921864	0.67383	5.074224	0.538789430895942	0.70620	5.532223	0.999999999999159	0.74766	0.675202	0.55065	0	0.697927	0.68747	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	2.149000	0.41869	7.631000	0.62734	0.599000	0.40250	0.908000	0.31627	1.000000	0.68203	0.887000	0.42601	0.0:1.0:0.0:0.0	15.222	0.73011	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032753	0.005263	0.027624	0.044643	0.000000	0.051724	0.040625	0.046154	0.07143	1393.44	37	chr16	2770683	.	C	T	1393.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.405;DP=293;ExcessHet=0;FS=0.757;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.351;SOR=0.805	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1404,0,1214	6	0	1	0
chr16	3590393	3590393	T	C	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon12:c.A3245G:p.Q1082R	Fanconi anemia, complementation group P, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	466421	Fanconi_anemia|Fanconi_anemia_complementation_group_P|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.026	.	.	0.00339457	0.0014	0	0	0	0	2.997e-05	0.0011	0.0104	0.0012872	199	154602	rs368657696	0.0006	0.0006	0.0003	0.0009	0.0097	0.0006	0.0006	0.0092	0.0090	2.987e-05	0	0	2.519e-05	0	0.0002	9.892e-06	0.0009	0.0097	0.0004	0.0004	0.0002	0.0006	0.0126	0.0003	0.0003	0.0101	0.0092	4.81e-05	0	0	0	0	0	0	0	0.0005	0.0126	0.166	0.23183	T	0.521	0.10429	T	0.261	0.31520	B	0.028	0.21332	B	0.041220	0.23974	N	0.400265	1	0.08975	N	1.585	0.39878	L	2.33	0.16492	T	-1.37	0.33998	N	0.099	0.08088	-1.0228	0.22802	T	0.022	0.09238	T	10	0.0028263032	0.00045	T	.	.	.	0.026	0.05648	0.179	0.08626	0.117506650769	0.11410	0.22418084585163975	0.22333	0.0627428871137	0.06987	0.265611290932	0.05577	T	0.056565	0.30323	T	-0.635745	0.00088	T	-0.678019	0.07105	T	0.0181518461379196	0.00537	T	0.309269	0.05988	T	0.06586952	0.14119	0.0564912	0.10102	0.06586952	0.14118	0.0564912	0.10102	-1.773	0.02430	T	.	.	0.106	0.19760	B	.	.	0.840750	0.12126	8.675	0.89382609978507388	0.18749	0.12475	0.17292	N	AEFDBI	0.063539	0.12286	N	-0.974790111647367	0.09144	0.4315802	-0.988303228256178	0.10048	0.5036185	0.998367062002545	0.36832	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.97	-0.439	0.11652	-0.045000	0.11957	.	.	-0.169000	0.11342	0.086000	0.22486	0.010000	0.20010	0.450000	0.27895	0.124:0.1425:0.2759:0.4577	1.755	0.02800	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	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	2292.44	35	chr16	3590393	.	T	C	2292.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.948;DP=385;ExcessHet=0;FS=1.793;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.33;SOR=0.602	GT:AD:DP:GQ:PL	0/1:96,91:187:99:2303,0,2536	6	0	1	0
chr16	3666024	3666024	A	T	exonic	TRAP1	.	nonsynonymous SNV	TRAP1:NM_001272049:exon11:c.T1171A:p.Y391N,TRAP1:NM_016292:exon12:c.T1330A:p.Y444N	.	428	1089	5	0	0	5	0.00229043	.	.	.	550041	TRAP1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.642	0.0998326846705	0.0066	0.00199681	0.0047	0.0022	0.0020	0	0.0009	0.0074	0.0011	0.0012	0.0048835	755	154602	rs61756351	0.0075	0.0075	0.0078	0.0071	0.0090	0.0074	0.0073	0.0089	0.0088	0.0015	0.0024	0.0042	0	0.0021	0.0005	0.0090	0.0071	0.0011	0.0047	0.0047	0.0050	0.0043	0.0081	0.0044	0.0043	0.0076	0.0074	0.0017	0	0.0028	0.0040	0	0.0017	0	0.0081	0.0052	0.0012	0.004	0.65419	D	0.007	0.70582	D	0.996	0.68779	D	0.985	0.76457	D	0.000051	0.53742	D	0.130829	1	0.81001	D	3.135	0.88152	M	2.9	0.10101	T	-7.84	0.96032	D	0.958	0.97207	-0.9271	0.44559	T	0.084	0.32786	T	10	0.022699267	0.00574	T	0.099833	0.77174	D	0.642	0.86384	.	.	0.492200611407	0.48855	0.8898202667928607	0.88952	0.112827264345	0.12733	0.760841012001	0.76054	T	0.396374	0.75502	T	-0.0845655	0.38970	T	0.116139	0.77977	D	0.0632158253167541	0.07664	T	0.984202	0.96411	D	0.96408725	0.97689	0.9319283	0.97227	0.96408725	0.97689	0.9319283	0.97227	-12.254	0.86066	D	0.5153874321856869	0.58849	0.473	0.72070	A	.;.;.	.;.;.	4.347056	0.66733	25.0	0.99168518606783984	0.54326	0.99624	0.98098	D	AEFBI	0.921353	0.89470	D	0.872593854108381	0.90354	10.36628	0.810796392552748	0.90534	10.45128	0.999857045511393	0.44174	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	8.672000	0.90914	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	1.0:0.0:0.0:0.0	15.291	0.73567	624	0.65661	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.009146	0.003788	0.07143	1134.49	35	chr16	3666024	.	A	T	1134.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.485;DP=281;ExcessHet=0;FS=0.761;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.029;SOR=0.804	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1145,0,1180	6	0	1	0
chr16	4737837	4737837	G	A	exonic	C16orf71	.	nonsynonymous SNV	C16orf71:NM_139170:exon3:c.G167A:p.R56Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0125169545423	.	.	1.648e-05	9.615e-05	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs767265532	8.209e-06	8.209e-06	6.806e-06	9.626e-06	1.079e-05	4.38e-06	3.46e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.003816	0.34463	N	0.000000	0.614654	0.30831	N	2.14	0.59869	M	2.66	0.12575	T	-3.68	0.70314	D	0.743	0.76481	-1.0024	0.29226	T	0.086	0.33550	T	10	0.5233655	0.62770	D	0.012517	0.31165	T	0.183	0.45592	0.55	0.66576	0.128392430309	0.12331	0.23683674325721266	0.23598	0.172259201057	0.19399	.	.	.	0.034611	0.23389	T	-0.0798622	0.39738	T	-0.170965	0.57354	T	0.975694537162781	0.71047	D	0.876412	0.59406	D	0.63442564	0.74534	0.5962639	0.76558	0.63442564	0.74535	0.5962639	0.76559	-7.842	0.59988	D	.	.	0.460	0.65372	A	.;.;.	.;.;.	4.944607	0.81627	27.6	0.99953703519670423	0.99963	0.93203	0.57594	D	AEFBI	0.595144	0.58981	D	0.646814778427543	0.76162	6.435947	0.59623374852995	0.74667	6.176572	0.999976352303138	0.50053	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.51	4.51	0.54589	5.257000	0.65294	11.514000	0.93015	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.837000	0.39485	0.0:0.0:1.0:0.0	14.934	0.70592	637	0.64373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	921.44	33	chr16	4737837	.	G	A	921.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.16;DP=275;ExcessHet=0;FS=2.668;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.586;SOR=1.038	GT:AD:DP:GQ:PL	0/1:52,45:97:99:932,0,1171	6	0	1	0
chr16	8847796	8847796	C	T	exonic	PMM2	.	nonsynonymous SNV	PMM2:NM_000303:exon8:c.C712T:p.R238C	Congenital disorder of glycosylation, type Ia, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	693952	PMM2-congenital_disorder_of_glycosylation|PMM2-related_disorder	MONDO:MONDO:0008907,MedGen:C0349653,OMIM:212065,Orphanet:79318|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.418	0.226394227831	0.0002	0.00199681	0.0010	0	0.0002	0.0001	0	4.533e-05	0	0.0070	0.0008603	133	154602	rs142459706	0.0006	0.0006	0.0003	0.0008	0.0084	0.0005	0.0005	0.0079	0.0077	8.962e-05	8.944e-05	0	5.038e-05	0	0.0005	6.296e-05	0.0005	0.0084	0.0004	0.0004	0.0002	0.0006	0.0110	0.0003	0.0003	0.0086	0.0078	4.811e-05	0	0	0	0.0004	0	0	0	0	0.0110	0.173	0.38633	T	0.222	0.26145	T	0.131	0.27154	B	0.044	0.24394	B	0.000811	0.41658	D	0.244270	0.978411	0.28041	N	2.375	0.68372	M	-4.97	0.98468	D	-2.74	0.66896	D	0.384	0.42541	0.498	0.90524	D	0.866	0.95536	D	10	0.018635482	0.00407	T	0.226394	0.88042	D	0.418	0.72780	.	.	0.867138899746	0.86584	0.8027065894096944	0.80224	0.00779372771097	0.00696	0.317496716976	0.13041	T	0.794771	0.99204	D	-0.18687	0.22718	T	-0.0357938	0.67983	D	0.0514738983896492	0.05757	T	0.90471	0.67021	D	0.22378522	0.45007	0.14660732	0.34727	0.2445064	0.47400	0.14297609	0.33994	-10.453	0.76577	D	0.2683558324690387	0.36141	0.134	0.35414	B	.;.;.	.;.;.	2.073924	0.26374	17.10	0.92081431171461292	0.21429	0.53129	0.29297	D	AEFDBHCI	0.256351	0.37529	N	-0.550592701161736	0.20465	1.079021	-0.517073407056868	0.21689	1.174516	0.99999241050245	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.22	3.27	0.36580	1.871000	0.39176	0.375000	0.17719	-0.173000	0.11020	0.263000	0.24978	0.025000	0.21018	0.019000	0.11356	0.2451:0.5916:0.0:0.1633	5.381	0.15493	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1100.49	33	chr16	8847796	.	C	T	1100.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.03;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.956;SOR=0.792	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1111,0,1012	6	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	15944.5	149	chr16	11927475	.	G	*	15944.5	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.05;DP=856;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=0.428;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,111:111:99:.:.:4918,343,0:.	5	1	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	551.23	39	chr16	14582206	.	G	C	551.23	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.814;DP=853;ExcessHet=3.1439;FS=358.834;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=1.7;SOR=11.434	GT:AD:DP:GQ:PL	0/1:110,42:181:2:2,0,1979	2	0	4	1
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	426.24	4	chr16	21404235	.	GC	G	426.24	.	AC=8;AF=1;AN=8;DP=17;ExcessHet=0;FS=0;MLEAC=9;MLEAF=1;MQ=27.33;QD=27.5;SOR=4.977	GT:AD:DP:GQ:PL	1/1:0,2:2:11:87,11,0	0	4	0	3
chr16	23700602	23700602	G	A	exonic	ERN2	.	nonsynonymous SNV	ERN2:NM_001308220:exon12:c.C1306T:p.R436W,ERN2:NM_033266:exon13:c.C1462T:p.R488W	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0168715715809	.	.	0.0002	0	0.0003	0	0	6e-05	0	0.0011	0.0001876	29	154602	rs750839123	9.167e-05	9.166e-05	6.943e-05	0.0001	0.0010	7.891e-05	7.365e-05	0.0005	0.0005	2.987e-05	0.0004	0	5.038e-05	1.873e-05	0.0010	4.227e-05	4.968e-05	0.0007	0.0001	0.0001	8.992e-05	0.0001	0.0006	7.571e-05	6.277e-05	0.0003	0.0002	0	0	0.0006	0	0	0	0	8.819e-05	0.0005	0.0004	0.018	0.50676	D	0.059	0.47581	T	0.261	0.31520	B	0.075	0.28327	B	0.035394	0.01801	N	2.303880	1	0.08975	N	0	0.06538	N	0.16	0.60610	T	-1.51	0.36787	N	0.176	0.18920	-0.9785	0.35345	T	0.064	0.26667	T	10	0.032564968	0.01410	T	0.016872	0.38326	T	0.099	0.28413	0.32	0.29902	0.269558022972	0.26553	0.39393926582704303	0.39308	0.196112893007	0.21964	0.238646313548	0.02670	T	0.661827	0.89861	D	-0.442206	0.01255	T	-0.489758	0.23415	T	0.0335462198541496	0.02561	T	0.679032	0.28770	T	0.0630264	0.13228	0.02461654	0.00485	0.0630264	0.13227	0.02461654	0.00485	-6.197	0.47898	T	.	.	0.079	0.07365	B	.;.	.;.	0.787336	0.11578	8.169	0.81891859223442698	0.13912	0.03576	0.08790	N	AEFDBCI	0.068788	0.13585	N	-1.27657543326914	0.03959	0.1778257	-1.39515265959096	0.03303	0.1538197	0.999997300666498	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.459711	0.06710	0	0.530356	0.10902	0	.	.	4.1	-4.79	0.02966	-0.172000	0.09858	-0.022000	0.12912	-0.148000	0.12190	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3873:0.3103:0.3023:0.0	5.450	0.15853	368	0.84463	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.050000	0.000000	0.003049	0.003788	0.1429	1458.63	24	chr16	23700602	.	G	A	1458.63	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.05;SOR=1.036	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1479,156,0	6	1	0	0
chr16	29485391	29485391	G	A	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.C1085T:p.A362V	.	769	733	17	0	3	20	0.0114633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00280400634171	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449779001	0.0001	0.0003	0.0001	0.0001	0.0019	8.577e-05	7.628e-05	0.0006	0.0005	0.0011	0	0	0	0	0.0019	3.965e-05	0.0002	0.0004	0.0004	0.0004	0.0003	0.0005	0.0019	0.0002	0.0002	0.0008	0.0007	0.0013	0	0	0	0	0	0	4.445e-05	0	0.0019	0.263	0.16412	T	0.503	0.11078	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	2.21	0.18414	T	-0.49	0.15578	N	0.063	0.03502	-0.9483	0.41263	T	0.014	0.05417	T	4	0.008832246	0.00200	T	0.002804	0.05840	T	0.022	0.04323	0.374	0.38667	0.0482279557977	0.04254	.	.	.	.	.	.	.	.	.	.	-0.308535	0.07878	T	-0.680966	0.06924	T	0.037968423217535	0.03327	T	0.652235	0.26282	T	.	.	.	.	.	.	.	.	-8.522	0.64575	D	.	.	0.269	0.50297	B	.;.	.;.	1.624962	0.20752	14.89	0.99243355790880283	0.56630	0.00387	0.01950	N	AEFI	0.028206	0.02443	N	-0.982321056460651	0.08981	0.4232228	-1.20401062875488	0.05845	0.2796658	1.09537333666636E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	.	.	.	0.064000	0.14310	-8.108000	0.01027	0.061000	0.17545	0.006000	0.17386	0.000000	0.08366	0.040000	0.14268	.	.	.	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	356.18	79	chr16	29485391	.	G	A	356.18	.	AC=1;AF=0.1;AN=10;BaseQRankSum=4.78;DP=548;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=33.08;MQRankSum=0.244;QD=3.46;ReadPosRankSum=1.44;SOR=0.436	GT:AD:DP:GQ:PL	0/1:83,20:103:99:365,0,2279	4	0	1	2
chr16	30358125	30358125	T	C	exonic	TBC1D10B	.	nonsynonymous SNV	TBC1D10B:NM_015527:exon9:c.A2246G:p.Q749R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0146370783822	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1203802700	1.429e-06	1.368e-06	1.41e-06	1.449e-06	1.854e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.854e-06	0	0	1.315e-05	1.314e-05	1.286e-05	1.346e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.204	0.20078	T	0.463	0.12491	T	0.0	0.02946	B	0.0	0.01387	B	0.083054	0.20774	N	0.292311	0.996933	0.22851	N	-0.69	0.01958	N	-0.01	0.62762	T	-0.55	0.16799	N	0.174	0.18649	-1.0434	0.16294	T	0.092	0.35010	T	10	0.04721877	0.04012	T	0.014637	0.34889	T	0.089	0.25827	0.148	0.05138	0.117191471859	0.11215	0.023856609599408045	0.02336	0.127803943802	0.14414	0.433549284935	0.29694	T	0.004277	0.03690	T	-0.214087	0.18807	T	-0.545298	0.17779	T	0.0533882089272219	0.06086	T	0.809419	0.45992	T	0.046215314	0.07697	0.084024206	0.19299	0.046215314	0.07697	0.084024206	0.19298	-8.997	0.67678	D	.	.	0.076	0.05979	B	.	.	1.060349	0.14419	10.99	0.92014293924420276	0.21351	0.33830	0.24923	N	AEFBI	0.111731	0.22111	N	-0.953825367751756	0.09607	0.4554108	-0.902874181012427	0.12026	0.6162486	0.987606066590472	0.31302	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.11	-1.12	0.09306	0.747000	0.25956	0.447000	0.18483	0.603000	0.45986	0.960000	0.33603	0.773000	0.26716	0.645000	0.32557	0.0:0.3389:0.0:0.6611	7.076	0.24384	185	0.92771	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	995.45	34	chr16	30358125	.	T	C	995.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.934;DP=275;ExcessHet=0;FS=2.671;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-1.1;SOR=0.55	GT:AD:DP:GQ:PL	0/1:52,43:95:99:1006,0,1457	6	0	1	0
chr16	30525595	30525595	T	C	exonic	ZNF768	.	nonsynonymous SNV	ZNF768:NM_024671:exon2:c.A545G:p.E182G	.	426	1048	47	1	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0026	0.00439297	0.0039	0.0038	0.0010	0.0001	0.0002	0.0025	0.0077	0.0150	0.0035316	546	154602	rs61735343	0.0025	0.0025	0.0021	0.0029	0.0150	0.0024	0.0024	0.0144	0.0141	0.0030	0.0010	0.0012	5.038e-05	0.0008	0.0076	0.0017	0.0030	0.0150	0.0029	0.0029	0.0028	0.0030	0.0155	0.0027	0.0026	0.0127	0.0117	0.0037	0	0.0017	0.0012	0	0.0007	0.0102	0.0025	0.0033	0.0155	0.001	0.78490	D	0.199	0.27679	T	0.131	0.27154	B	0.039	0.23607	B	0.000284	0.46274	D	0.000000	0.536829	0.31445	N	0.695	0.17993	N	3.18	0.07711	T	-0.89	0.24026	N	0.186	0.20262	-1.0139	0.25688	T	0.012	0.04558	T	10	0.0043001175	0.00087	T	.	.	.	0.075	0.21907	.	.	0.082315109003	0.07666	0.37202124606213827	0.37116	0.807358794691	0.66551	0.405187904835	0.25790	T	0.007683	0.07071	T	-0.499077	0.00578	T	-0.476692	0.24798	T	0.0276702102265299	0.01641	T	0.630337	0.24523	T	0.20003097	0.41964	0.1916817	0.42640	0.20003097	0.41964	0.1916817	0.42639	-4.114	0.25496	T	.	.	0.089	0.31733	B	.;.	.;.	1.973226	0.25064	16.63	0.99829335475869052	0.91112	0.69092	0.34052	D	AEFDBCI	0.181558	0.30888	N	-0.479766409328176	0.22745	1.216644	-0.309602595949851	0.27787	1.544414	0.999990811413327	0.74766	0.695654	0.57023	0	0.606735	0.50208	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	3.94	0.44807	0.000000	0.12910	1.452000	0.26614	0.665000	0.62972	0.005000	0.17040	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.1678:0.8322	10.160	0.42020	243	0.90483	.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.041667	0.07143	761.83	22	chr16	30525595	.	T	C	761.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.178;DP=188;ExcessHet=0;FS=8.123;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=1.32;SOR=0.304	GT:AD:DP:GQ:PL	0/1:20,29:49:99:772,0,509	6	0	1	0
chr16	30532534	30532534	G	A	exonic	ZNF747	.	stopgain	ZNF747:NM_001305018:exon3:c.C961T:p.Q321X,ZNF747:NM_001305019:exon3:c.C958T:p.Q320X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	0	0	0	0	3.349e-05	0	0.0012	9.7e-05	15	154602	rs567840441	5.847e-05	6.088e-05	3.009e-05	8.719e-05	0.0010	4.836e-05	4.456e-05	0.0008	0.0007	0	0	0	0	0	0	0	3.325e-05	0.0010	2.625e-05	2.624e-05	2.569e-05	2.684e-05	0.0006	8.13e-06	5.14e-06	0.0002	8.981e-05	2.405e-05	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889809	0.81001	A	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.80804	D	0.536677	0.95345	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.369730	0.95097	34	0.95147003530319241	0.26275	0.19931	0.20850	N	AEFBI	0.081889	0.16576	N	-0.625742763799011	0.18175	0.9414148	-0.730428312689588	0.16205	0.856124	0.999818453020186	0.43459	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	2.2	1.16	0.19936	0.427000	0.21098	8.040000	0.76310	0.373000	0.20310	0.000000	0.06391	1.000000	0.68203	0.075000	0.16954	0.1515:0.0:0.8485:0.0	7.010	0.24039	218	0.91525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1640.53	34	chr16	30532534	.	G	A	1640.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.119;DP=301;ExcessHet=0;FS=0.669;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-2.119;SOR=0.654	GT:AD:DP:GQ:PL	0/1:54,71:125:99:1651,0,1254	6	0	1	0
chr16	30698188	30698188	G	T	exonic	LOC730183	.	nonsynonymous SNV	LOC730183:NM_001256932:exon1:c.C121A:p.P41T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1023781740	1.241e-05	1.368e-05	1.106e-05	1.386e-05	0.0004	6.93e-06	5.34e-06	2.084e-05	1.3e-05	0	7.217e-05	0	0	0	0.0004	6.837e-06	2.677e-05	6.362e-05	1.97e-05	1.97e-05	3.856e-05	0	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1043.83	33	chr16	30698188	.	G	T	1043.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.037;DP=333;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.7;ReadPosRankSum=0.499;SOR=0.722	GT:AD:DP:GQ:PL	0/1:53,45:98:99:1054,0,1292	6	0	1	0
chr16	30979984	30979984	C	T	exonic	SETD1A	.	nonsynonymous SNV	SETD1A:NM_014712:exon14:c.C4198T:p.R1400C	.	631	884	6	1	0	8	0.0045045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	.	0.0161741	0.0490	0	0.025	0	0	0.0004	0.0213	0.0713	0.0042626	659	154602	rs557095006	0.0041	0.0040	0.0022	0.0061	0.0707	0.0040	0.0040	0.0691	0.0684	0.0002	0.0001	8.625e-05	0	2.445e-05	0.0008	8.09e-05	0.0040	0.0707	0.0036	0.0036	0.0021	0.0051	0.0839	0.0033	0.0032	0.0771	0.0745	0.0001	0.1311	0.0002	0	0.0002	0	0	0.0001	0.0005	0.0839	0.005	0.63226	D	0.172	0.30241	T	0.431	0.35606	B	0.109	0.31370	B	0.006738	0.31837	N	0.250098	0.99999	0.58761	D	0.55	0.14455	N	0.43	0.56772	T	-1.21	0.30762	N	0.163	0.17140	-1.0382	0.17863	T	0.081	0.32002	T	10	0.0017291903	0.00022	T	.	.	.	0.102	0.29158	.	.	.	.	0.5353472984659371	0.53459	0.304605667835	0.32764	0.855499386787	0.90442	D	0.026785	0.19750	T	-0.479926	0.00740	T	-0.407084	0.32562	T	0.0169524249608776	0.00446	T	0.761624	0.38671	T	0.099416025	0.23461	0.055610847	0.09786	0.099416025	0.23461	0.055610847	0.09786	-6.97	0.53814	T	.	.	0.303	0.53261	B	.	.	2.642810	0.34393	19.61	0.79431878100807918	0.12739	0.34742	0.25139	N	AEFDBHCI	0.125505	0.24204	N	-0.703605897555126	0.15920	0.8066206	-0.747253410266405	0.15789	0.8321826	0.99999734650294	0.74766	0.696267	0.57585	0	0.71359	0.82159	0	0.691665	0.62940	0	0.491896	0.07777	0	.	.	3.96	2.97	0.33479	0.655000	0.24618	3.711000	0.39556	0.518000	0.23583	0.021000	0.19753	1.000000	0.68203	0.016000	0.10718	0.387:0.613:0.0:0.0	9.788	0.39856	37	0.98026	.	.	.	.	.	.	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	0.011348	0.000000	0.003984	0.008130	0.000000	0.000000	0.000000	0.049020	0.08333	800.27	13	chr16	30979984	.	C	T	800.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.534;DP=128;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=26.68;ReadPosRankSum=2.01;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,20:30:99:0|1:30979983_G_T:810,0,350:30979983	5	0	1	1
chr16	31462515	31462515	G	C	exonic	ARMC5	.	nonsynonymous SNV	ARMC5:NM_001105247:exon3:c.G968C:p.G323A,ARMC5:NM_024742:exon3:c.G968C:p.G323A,ARMC5:NM_001301820:exon4:c.G1064C:p.G355A,ARMC5:NM_001288767:exon5:c.G1253C:p.G418A	ACTH-independent macronodular adrenal hyperplasia 2, Autosomal dominant, Somatic mutation	427	1081	14	0	0	14	0.00643382	.	.	YES	755145	not_provided|ARMC5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.042	0.0216800030384	0.0011	0.000798722	0.0012	0.0002	0.0002	0	0	0.0012	0.0079	0.0032	0.0010608	164	154602	rs35461188	0.0008	0.0008	0.0006	0.0009	0.0082	0.0007	0.0007	0.0063	0.0056	8.961e-05	0.0006	0.0023	2.52e-05	0	0.0082	0.0005	0.0012	0.0037	0.0007	0.0008	0.0006	0.0009	0.0025	0.0006	0.0006	0.0019	0.0017	4.808e-05	0	0.0025	0.0012	0	0	0.0068	0.0008	0.0009	0.0025	0.806	0.05061	T	0.683	0.18560	T	0.734	0.42776	P	0.391	0.44178	B	0.000031	0.55875	D	0.120614	1	0.81001	D	0.95	0.23787	L	2.25	0.17761	T	-0.3	0.11913	N	0.295	0.33469	-1.0767	0.08003	T	0.029	0.12234	T	10	0.009355068	0.00211	T	0.02168	0.44481	T	0.042	0.11227	.	.	0.370608029945	0.36667	0.5423250265443574	0.54157	0.698064989519	0.60947	0.617535591125	0.55381	T	0.006791	0.06218	T	-0.5505	0.00290	T	-0.566583	0.15764	T	0.00440455106771608	0.00047	T	0.706929	0.31753	T	0.053502858	0.10134	0.06439192	0.12899	0.06651023	0.14318	0.06819258	0.14209	-2.753	0.30122	T	0.10966351968876943	0.09179	0.080	0.14751	B	.;.;.;.;.	.;.;.;.;.	2.396339	0.30777	18.54	0.72839157665172682	0.10114	0.38745	0.26057	N	AEFDBI	0.075043	0.15058	N	-0.468066813137788	0.23133	1.24008	-0.337736843638026	0.26891	1.488347	0.211540477378153	0.18245	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.51	3.55	0.39770	1.396000	0.34140	.	.	0.674000	0.70861	0.922000	0.32020	1.000000	0.68203	0.970000	0.54328	0.0:0.3542:0.6458:0.0	11.329	0.48700	385	0.83500	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.006546	0.000000	0.005435	0.011696	0.000000	0.008621	0.006098	0.011364	0.07143	1195.53	34	chr16	31462515	.	G	C	1195.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.7;DP=269;ExcessHet=0;FS=4.207;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=1.19;SOR=0.921	GT:AD:DP:GQ:PL	0/1:37,47:84:99:1206,0,1121	6	0	1	0
chr16	46604420	46604420	A	G	exonic	SHCBP1	.	nonsynonymous SNV	SHCBP1:NM_001324318:exon6:c.T617C:p.I206T,SHCBP1:NM_024745:exon6:c.T731C:p.I244T	.	.	.	.	.	.	.	.	.	.	.	3314400	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00549220050998	.	.	2.482e-05	0	8.642e-05	0	0	3.009e-05	0	0	1.94e-05	3	154602	rs775811918	6.294e-05	6.293e-05	6.126e-05	6.464e-05	0.0002	5.228e-05	4.846e-05	5.849e-05	4.966e-05	0.0001	0.0001	0	2.52e-05	0	0.0002	6.656e-05	6.623e-05	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-05	6.54e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.54e-05	0	0	0	0	2.94e-05	0	0	0.038	0.42783	D	0.044	0.49663	D	0.068	0.23728	B	0.014	0.16862	B	0.000797	0.41772	D	0.235880	0.932818	0.27011	N	1.39	0.34934	L	1.97	0.22067	T	-1.23	0.31170	N	0.182	0.19728	-1.0537	0.13386	T	0.034	0.14596	T	10	0.123359025	0.23417	T	0.005492	0.14136	T	0.050	0.13987	0.446	0.50466	0.110078149338	0.10416	0.22071329937377873	0.21986	0.30992876503	0.33302	0.552464962006	0.46206	T	0.035275	0.23656	T	-0.303789	0.08307	T	-0.477177	0.24747	T	0.0930685326457024	0.11578	T	0.869013	0.57273	D	0.08483444	0.19653	0.06785156	0.14092	0.08483444	0.19653	0.06785156	0.14091	-4.44	0.30096	T	.	.	0.073	0.04723	B	.	.	2.774911	0.36435	20.2	0.54228954808632635	0.05096	0.96180	0.67901	D	AEGBI	0.432672	0.49445	N	-0.63163196520366	0.17999	0.9309693	-0.539856801026014	0.21076	1.138429	0.999825233874278	0.43622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.04	0.34171	4.413000	0.59549	3.976000	0.40865	0.691000	0.84096	0.982000	0.35529	0.107000	0.22748	0.982000	0.59238	0.9164:0.0:0.0836:0.0	9.795	0.39896	373	0.84140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	572.49	35	chr16	46604420	.	A	G	572.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.232;DP=236;ExcessHet=0;FS=1.136;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-1.522;SOR=1.03	GT:AD:DP:GQ:PL	0/1:29,23:52:99:583,0,765	6	0	1	0
chr16	47083741	47083741	A	G	exonic	NETO2	.	nonsynonymous SNV	NETO2:NM_001201477:exon9:c.T1037C:p.I346T,NETO2:NM_018092:exon9:c.T1058C:p.I353T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.00943240720859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.682	0.41464	P	0.115	0.31843	B	0.012666	0.29095	N	0.406056	0.999982	0.54805	D	1.355	0.33814	L	1.97	0.26301	T	-2.57	0.55501	D	0.334	0.47487	-0.9325	0.43770	T	0.122	0.42357	T	9	0.416715	0.56591	T	0.009432	0.24716	T	0.422	0.73078	0.754	0.88402	0.505151966591	0.50154	0.634390010513634	0.63373	0.51785617826	0.49650	0.411043643951	0.26602	T	0.073449	0.34700	T	-0.0948626	0.37274	T	-0.37404	0.36418	T	0.913325130939484	0.56955	D	0.870113	0.57479	D	0.24897993	0.47889	0.3207415	0.58028	0.24897993	0.47889	0.3207415	0.58027	-10.775	0.78823	D	.	.	0.563	0.67327	A	.;.	.;.	3.343552	0.46082	22.2	0.99402501367817964	0.62887	0.99175	0.92335	D	AEFBI	0.886049	0.81711	D	0.185509373137387	0.50503	3.239703	0.310611830374193	0.56162	3.779247	0.999999897983893	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.78	5.78	0.91418	9.312000	0.95349	9.262000	0.79568	0.756000	0.94297	0.993000	0.37899	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.114	0.81093	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	.	.	.	.	.	.	.	.	0.07143	1387.44	34	chr16	47083741	.	A	G	1387.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.553;DP=300;ExcessHet=0;FS=2.45;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.137;SOR=0.938	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1398,0,1162	6	0	1	0
chr16	56514532	56514532	T	C	exonic	BBS2	.	nonsynonymous SNV	BBS2:NM_001377456:exon2:c.A266G:p.Y89C,BBS2:NM_031885:exon2:c.A266G:p.Y89C	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	693904	Bardet-Biedl_syndrome|BBS2-related_disorder|not_specified|Bardet-Biedl_syndrome_2	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN239228|MedGen:CN169374|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.334	0.0118211698055	.	0.00119808	0.0005	0	0	0	0	0	0.0011	0.0036	0.0004398	68	154602	rs560910758	0.0002	0.0002	0.0001	0.0003	0.0034	0.0002	0.0002	0.0030	0.0029	0	0	0	0	0	0.0005	3.597e-06	0.0002	0.0034	0.0002	0.0002	8.995e-05	0.0002	0.0048	0.0001	8.713e-05	0.0033	0.0028	0	0	0	0	0	0	0	0	0	0.0048	0.181	0.21884	T	0.194	0.28120	T	.	.	.	.	.	.	0.041773	0.23913	N	0.492179	0.99998	0.18612	N	.	.	.	-0.16	0.65378	T	-0.44	0.15782	N	0.724	0.72567	-1.0211	0.23357	T	0.123	0.42568	T	10	0.00826776	0.00187	T	0.011821	0.29821	T	0.334	0.65620	0.376	0.38994	0.364141725642	0.36032	0.6391238036103962	0.63846	0.310774122975	0.33387	0.389987468719	0.23668	T	0.243221	0.61212	T	-0.304766	0.08218	T	-0.212973	0.53412	T	0.0184517551530685	0.00562	T	0.709329	0.31993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00321	B	.;.	.;.	1.295757	0.16970	12.88	0.9227159883404914	0.21656	0.25352	0.22673	N	AEFDBCI	0.078207	0.15774	N	-0.822142777654499	0.12746	0.6232367	-0.707056244432805	0.16784	0.8895661	0.98899828633278	0.31691	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.4	-0.706	0.10682	0.628000	0.24215	-1.293000	0.05795	-0.203000	0.08628	0.379000	0.25998	0.000000	0.08366	0.975000	0.56047	0.0:0.4543:0.0:0.5457	12.405	0.54770	483	0.77230	Ciliary BBSome complex subunit 2, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	3099.44	34	chr16	56514532	.	T	C	3099.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.43;DP=479;ExcessHet=0;FS=0.428;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.645;SOR=0.727	GT:AD:DP:GQ:PL	0/1:156,134:290:99:3110,0,3512	6	0	1	0
chr16	56971996	56971996	C	A	exonic	CETP	.	nonsynonymous SNV	CETP:NM_000078:exon8:c.C663A:p.S221R,CETP:NM_001286085:exon8:c.C663A:p.S221R	Hyperalphalipoproteinemia, Autosomal dominant	1	1498	23	0	0	23	0.00761842	.	.	.	342010	not_provided|Hyperalphalipoproteinemia_1	MedGen:C3661900|MedGen:C3149462,OMIM:143470	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.641	.	0.0002	0.00479233	0.0031	0.0002	0.0002	0	0	0.0003	0.0055	0.0209	0.0026843	415	154602	rs201438792	0.0015	0.0015	0.0009	0.0021	0.0206	0.0015	0.0015	0.0198	0.0195	8.961e-05	0.0002	0	7.557e-05	0	0.0043	0.0003	0.0013	0.0206	0.0009	0.0009	0.0006	0.0012	0.0224	0.0008	0.0007	0.0190	0.0177	9.625e-05	0	0.0001	0	0	0	0	0.0003	0.0014	0.0224	0.526	0.13654	T	0.502	0.36101	T	0.742	0.43019	P	0.158	0.34617	B	0.875708	0.07204	N	1.060550	1	0.08975	N	0.69	0.16971	N	3.61	0.04446	T	-1.11	0.36980	N	0.45	0.73555	-0.9653	0.38151	T	0.009	0.03271	T	10	0.0046780407	0.00098	T	.	.	.	0.641	0.86333	0.372	0.38340	0.18274738541	0.17906	0.241247330175121	0.24038	0.158616444163	0.17903	0.278875559568	0.07336	T	0.23958	0.60773	T	-0.652579	0.00070	T	-0.694565	0.06128	T	0.00735772075131536	0.00084	T	0.663534	0.38090	T	0.06658967	0.14343	0.07627317	0.16878	0.0822421	0.18937	0.061686095	0.11950	-4.278	0.31318	T	0.457837663697599	0.54053	0.151	0.41280	B	.;.;.	.;.;.	1.936277	0.24595	16.45	0.7118918028489134	0.09545	0.16953	0.19623	N	AEFDGBI	0.167491	0.29417	N	-1.17003362001814	0.05458	0.2488757	-1.17421399311838	0.06343	0.3050421	0.999957556069454	0.48110	0.549168	0.22868	0	0.624146	0.53433	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	3.86	2.89	0.32713	0.771000	0.26294	0.522000	0.19173	-0.368000	0.05462	0.433000	0.26432	0.004000	0.18990	0.268000	0.23719	0.0:0.791:0.0:0.209	9.096	0.35799	716	0.55970	Lipid-binding serum glycoprotein, N-terminal;Lipid-binding serum glycoprotein, N-terminal;Lipid-binding serum glycoprotein, 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	0	0	1	0	0.004032	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.022727	0.07143	884.45	34	chr16	56971996	.	C	A	884.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.369;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.99;SOR=0.667	GT:AD:DP:GQ:PL	0/1:39,36:75:99:895,0,1116	6	0	1	0
chr16	66469836	66469836	G	A	exonic	BEAN1	.	nonsynonymous SNV	BEAN1:NM_001178020:exon3:c.G260A:p.R87H	Spinocerebellar ataxia 31, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3298115	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.00623791921106	.	.	0.0004	0	0.0054	0	0	0	0	0.0005	3.23e-05	5	154602	rs768531415	4.484e-05	4.446e-05	2.284e-05	6.742e-05	0.0005	3.569e-05	3.24e-05	0.0004	0.0004	0.0001	0	3.976e-05	0	5.893e-05	0	1.113e-05	1.728e-05	0.0005	6.7e-05	6.601e-05	0	0.0001	0.0004	3.582e-05	2.764e-05	9.769e-05	7.11e-05	0.0002	0	0	0	0	0	0	0	0	0.0004	0.449	0.09022	T	0.632	0.07150	T	.	.	.	.	.	.	0.176248	0.03148	N	1.723860	1	0.08975	N	0	0.06538	N	1.86	0.24285	T	-0.1	0.08495	N	0.128	0.12198	-1.0453	0.15738	T	0.023	0.09650	T	8	0.006535977	0.00148	T	0.006238	0.16376	T	0.007	0.00512	.	.	0.0297737177859	0.01360	0.08198183253524222	0.08133	.	.	0.268166601658	0.05903	T	0.007068	0.06489	T	-0.540488	0.00333	T	-0.669212	0.07660	T	0.0212077721953392	0.00822	T	0.483352	0.14674	T	0.020880004	0.00664	0.024562208	0.00478	0.020880004	0.00664	0.024562208	0.00478	-3.242	0.13000	T	.	.	0.061	0.01109	B	.	.	-0.200067	0.03089	0.486	0.88055832199260886	0.17683	0.00513	0.02400	N	AEFDGBI	0.045143	0.07349	N	-1.46382106944443	0.02110	0.09284697	-1.61904235247931	0.01544	0.06993914	0.99983438933382	0.43792	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.2	-8.39	0.00847	-0.948000	0.04007	-1.223000	0.05981	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.185000	0.21450	0.5494:0.1158:0.2175:0.1173	3.501	0.07234	437	0.80299	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	901.63	42	chr16	66469836	.	G	A	901.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.926;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.605;SOR=0.719	GT:AD:DP:GQ:PL	0/1:26,35:61:99:912,0,614	6	0	1	0
chr16	70473143	70473143	C	T	exonic	FCSK	.	nonsynonymous SNV	FCSK:NM_145059:exon15:c.C1567T:p.R523W	.	.	.	.	.	.	.	.	.	.	.	1674276	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0792336541285	8.4e-05	0.000399361	0.0001	0.0006	0.0009	0	0	0	0	0.0001	4.53e-05	7	154602	rs369957269	4.34e-05	6.498e-05	2.392e-05	6.335e-05	0.0004	3.443e-05	3.121e-05	0.0003	0.0003	0	7.997e-05	0	0	2.26e-05	0.0004	1.658e-05	3.43e-05	0.0004	6.564e-05	6.561e-05	6.423e-05	6.711e-05	0.0004	3.513e-05	2.614e-05	7.287e-05	3.028e-05	0	0	0.0001	0	0	0	0	8.819e-05	0	0.0004	0.001	0.78490	D	0.003	0.76473	D	0.999	0.90584	D	0.893	0.92359	P	0.000099	0.51296	D	0.121658	0.891096	0.35954	D	2.51	0.73131	M	3.03	0.11947	T	-4.66	0.79482	D	0.84	0.83576	-1.1144	0.02718	T	0.071	0.28871	T	10	0.20932999	0.37291	T	0.079234	0.73187	D	0.211	0.50185	.	.	0.367803931526	0.36392	0.7585770891354718	0.75805	0.385891351295	0.39878	0.754492759705	0.75110	T	0.602947	0.87301	D	0.0866568	0.62811	D	-0.1133	0.62348	T	0.856227993965149	0.50710	D	0.937706	0.77081	D	0.46369305	0.64900	0.37434417	0.62602	0.46369305	0.64901	0.37434417	0.62602	-7.691	0.60249	D	.	.	0.280	0.51925	B	.;.;.	.;.;.	3.400448	0.47126	22.4	0.97746159042797487	0.35714	0.51195	0.28839	D	AEFDBI	0.255161	0.37434	N	0.259948306985182	0.54132	3.579662	0.157738363513961	0.47553	2.98386	0.937463747047457	0.27299	0.615465	0.37627	0	0.633656	0.55848	0	0.603688	0.36954	0	0.491896	0.07777	0	.	.	5.84	1.19	0.20120	-0.380000	0.07484	-0.075000	0.12249	0.596000	0.33519	0.260000	0.24949	0.489000	0.25143	0.730000	0.35099	0.3874:0.5478:0.0:0.0648	11.786	0.51314	108	0.95573	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004132	0.000000	0.008333	0.000000	0.000000	0.000000	0.003185	0.000000	0.07143	514.83	24	chr16	70473143	.	C	T	514.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.82;DP=214;ExcessHet=0;FS=3.758;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=-1.166;SOR=1.306	GT:AD:DP:GQ:PL	0/1:43,21:64:99:525,0,1032	6	0	1	0
chr16	71569913	71569913	C	T	exonic	TAT	.	nonsynonymous SNV	TAT:NM_000353:exon10:c.G1066A:p.A356T	Tyrosinemia, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.0355431635268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.04643	T	0.609	0.07716	T	0.001	0.07471	B	0.003	0.08700	B	0.000027	0.55875	D	0.158249	0.732636	0.29814	N	0.55	0.14455	N	-2.77	0.90904	D	-0.48	0.15379	N	0.289	0.32701	-0.5991	0.64854	T	0.395	0.74786	T	10	0.22476733	0.39289	T	0.035543	0.56416	D	0.272	0.58758	0.418	0.45873	0.894042584955	0.89299	0.5798313064803486	0.57912	0.243833454048	0.26889	0.388646960258	0.23479	T	0.278332	0.65098	T	-0.0698221	0.41355	T	-0.338071	0.40563	T	0.516282856464386	0.33228	D	0.781022	0.41604	T	0.25357735	0.48380	0.12848926	0.30912	0.25357735	0.48380	0.12848926	0.30911	-5.363	0.40562	T	0.1217207344666142	0.11582	0.086	0.10449	B	.	.	2.243163	0.28645	17.87	0.7648299815947891	0.11486	0.81630	0.40995	D	AEFBI	0.394221	0.47156	N	-0.625886876950521	0.18170	0.9411588	-0.460062496220224	0.23263	1.26777	0.997894925391308	0.36162	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.69	3.75	0.42236	2.582000	0.45751	2.746000	0.34499	0.599000	0.40250	0.993000	0.37899	0.999000	0.35428	0.839000	0.39591	0.0:0.7868:0.0:0.2132	9.546	0.38444	180	0.92993	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1015.49	35	chr16	71569913	.	C	T	1015.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.256;DP=271;ExcessHet=0;FS=1.766;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.036;SOR=0.958	GT:AD:DP:GQ:PL	0/1:48,42:90:99:1026,0,1146	6	0	1	0
chr16	79599202	79599207	CCGCCG	-	exonic	MAF	.	nonframeshift deletion	MAF:NM_001031804:exon1:c.696_701del:p.G237_G238del,MAF:NM_005360:exon1:c.696_701del:p.G237_G238del	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3107125	Cataract_21_multiple_types|Ayme-Gripp_syndrome	MONDO:MONDO:0012437,MedGen:C1857768,OMIM:610202,Orphanet:91492|MONDO:MONDO:0010992,MedGen:C1832812,OMIM:601088	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1047494066	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0012	0.0010	0.0006	0	0	0.0005	0	0	0.0002	0.0004	0.0017	0.0002	0.0002	0.0001	0.0003	0.0017	0.0001	0.0001	0.0008	0.0006	0.0001	0	6.865e-05	0	0	0.0001	0	0.0002	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	241.21	8	chr16	79599201	.	TCCGCCG	T	241.21	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.366;DP=84;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=34.46;ReadPosRankSum=1.47;SOR=2.584	GT:AD:DP:GQ:PL	0/1:1,6:7:15:250,0,15	4	0	1	2
chr16	80684648	80684648	T	G	exonic	CDYL2	.	nonsynonymous SNV	CDYL2:NM_152342:exon2:c.A506C:p.H169P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0116786850524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	8.993e-07	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.993e-07	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.15303	T	0.215	0.26306	T	0.752	0.43309	P	0.326	0.41929	B	0.688412	0.10197	N	0.859381	0.998797	0.45457	D	0.345	0.11182	N	0.46	0.56281	T	-0.18	0.09796	N	0.216	0.24135	-1.0999	0.04103	T	0.098	0.36625	T	10	0.13853115	0.26346	T	0.011679	0.29546	T	.	.	0.177	0.08379	0.321697908245	0.31786	0.5059006266178727	0.50512	0.246319457913	0.27172	0.389248669147	0.23564	T	0.028806	0.20781	T	-0.112339	0.34382	T	-0.399143	0.33485	T	0.222069900857105	0.21567	T	0.692631	0.30204	T	0.13735226	0.31805	0.13503084	0.32341	0.13735226	0.31805	0.13503084	0.32340	-2.566	0.06249	T	.	.	0.069	0.10159	B	.;.;.;.	.;.;.;.	1.810221	0.23007	15.85	0.92004796396260091	0.21340	0.74291	0.36341	D	AEFDBI	0.327233	0.42826	N	-0.19894348990717	0.33177	1.879412	-0.132861372809664	0.34075	1.95603	0.969360341441958	0.29123	0.706548	0.73137	0	0.633656	0.55848	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.14	1.45	0.21708	1.465000	0.34909	1.563000	0.27369	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.4093:0.5907	12.296	0.54167	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1737.44	35	chr16	80684648	.	T	G	1737.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.7;DP=380;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-1.212;SOR=0.658	GT:AD:DP:GQ:PL	0/1:106,78:184:99:1748,0,2562	6	0	1	0
chr16	81177906	81177906	T	C	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001278423:exon3:c.A283G:p.I95V,PKD1L2:NM_001076780:exon14:c.A2338G:p.I780V	.	433	1088	1	0	0	1	0.000459348	.	.	.	3365363	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.016	0.0105534396613	.	.	0.0001	0	0	0	0	0	0	0.0009	9.7e-05	15	154602	rs752504784	5.063e-05	5.13e-05	2.587e-05	7.564e-05	0.0008	4.126e-05	3.779e-05	0.0007	0.0006	0	0	0	0	0	0	1.799e-06	1.656e-05	0.0008	1.972e-05	1.969e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	0.037	0.20876	B	0.022	0.19653	B	0.001768	0.38052	N	0.222054	1	0.08975	N	.	.	.	-0.17	0.65563	T	-0.22	0.13035	N	0.165	0.17416	-1.0007	0.29717	T	0.084	0.32872	T	9	0.029973447	0.01124	T	0.010553	0.27217	T	0.040	0.10527	.	.	0.254244900254	0.25046	.	.	.	.	0.249912381172	0.03759	T	.	.	.	-0.492526	0.00629	T	-0.549079	0.17414	T	0.0423254333436489	0.04114	T	0.532447	0.17709	T	.	.	.	.	.	.	.	.	-2.241	0.04244	T	.	.	0.071	0.03925	B	.;.	.;.	-0.232869	0.02928	0.427	0.27104388465219731	0.01330	0.03758	0.09067	N	AEFDBHCI	0.046001	0.07588	N	-0.828719661248419	0.12579	0.6140746	-0.968493874333777	0.10498	0.5290797	0.971467274789368	0.29289	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.89	0.204	0.14476	0.167000	0.16419	-0.490000	0.08866	-0.683000	0.04200	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3254:0.0:0.6746	8.445	0.31998	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	.	.	.	.	.	.	.	.	0.07143	1142.53	38	chr16	81177906	.	T	C	1142.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.789;DP=499;ExcessHet=0;FS=3.227;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=-0.978;SOR=1.036	GT:AD:DP:GQ:PL	0/1:80,52:132:99:1153,0,1958	6	0	1	0
chr16	84760189	84760189	G	A	exonic	USP10	.	nonsynonymous SNV	USP10:NM_005153:exon8:c.G1468A:p.V490M,USP10:NM_001272075:exon9:c.G1480A:p.V494M	.	460	1058	3	1	0	5	0.00235738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0025	0.00379393	0.0013	0.0123	0.0010	0.0002	0	7.686e-05	0.0017	0	0.0008409	130	154602	rs34121691	0.0004	0.0004	0.0004	0.0003	0.0116	0.0003	0.0003	0.0106	0.0103	0.0116	0.0008	0	5.047e-05	0	0.0009	3.245e-05	0.0009	9.401e-05	0.0030	0.0030	0.0029	0.0030	0.0104	0.0027	0.0027	0.0095	0.0092	0.0104	0	0.0010	0	0	0	0.0034	1.47e-05	0.0014	0.0004	0.082	0.43085	T	0.146	0.35205	T	0.437	0.41149	B	0.147	0.34014	B	0.432543	0.12730	N	0.766622	0.997943	0.22431	N	1.165	0.29723	L	1.54	0.30133	T	-0.69	0.23590	N	0.242	0.28849	-1.0851	0.06389	T	0.026	0.11220	T	10	0.006580442	0.00149	T	.	.	.	0.047	0.12962	.	.	0.117191471859	0.11215	0.30463201413525076	0.30376	0.0639365122651	0.07121	0.404083639383	0.25637	T	0.013985	0.18409	T	-0.607539	0.00131	T	-0.637502	0.09853	T	0.00718580646049887	0.00082	T	0.819518	0.51030	T	0.023353625	0.01069	0.04360193	0.05463	0.023353625	0.01068	0.04360193	0.05462	-7.014	0.56437	T	.	.	0.072	0.11027	B	.;.;.;.	.;.;.;.	0.881292	0.12544	9.074	0.97579266177706636	0.34725	0.15124	0.18756	N	AEFBHCI	0.095557	0.19304	N	-0.547796942626533	0.20553	1.084304	-0.592453869153922	0.19689	1.057491	0.999724294055637	0.42220	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	1.86	0.24489	0.185000	0.16767	0.334000	0.17313	-0.105000	0.15698	0.008000	0.17931	0.006000	0.19429	0.641000	0.32449	0.3509:0.0:0.6491:0.0	7.553	0.26974	889	0.27310	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;.;.;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1525.49	33	chr16	84760189	.	G	A	1525.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.039;DP=352;ExcessHet=0;FS=1.29;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-2.007;SOR=0.56	GT:AD:DP:GQ:PL	0/1:82,68:150:99:1536,0,2049	6	0	1	0
chr17	770479	770479	C	T	exonic	GLOD4	.	nonsynonymous SNV	GLOD4:NM_001366248:exon6:c.G404A:p.G135D,GLOD4:NM_001366249:exon6:c.G545A:p.G182D,GLOD4:NM_001366250:exon6:c.G545A:p.G182D,GLOD4:NM_016080:exon6:c.G572A:p.G191D,GLOD4:NM_001366247:exon7:c.G617A:p.G206D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.012091147406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.983e-07	6.159e-06	0	1.4e-06	1.166e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.08286	T	0.235	0.43913	T	0.95	0.53885	P	0.57	0.49854	P	0.000000	0.84330	D	0.093279	1	0.81001	D	.	.	.	0.91	0.63568	T	-1.49	0.36385	N	0.652	0.66272	-1.0021	0.29313	T	0.148	0.47416	T	10	0.6541439	0.69775	D	0.012091	0.30348	T	0.262	0.57482	0.518	0.61915	0.802132457166	0.80028	0.45420730303847134	0.45338	0.18525202041	0.20827	0.523134887218	0.42067	T	0.027678	0.20215	T	0.267063	0.80177	D	0.145841	0.79920	D	0.920182168483734	0.57924	D	0.832017	0.49964	T	0.19070086	0.40666	0.33302605	0.59144	0.19070086	0.40666	0.33302605	0.59144	-2.266	0.04373	T	.	.	0.086	0.15698	B	.;.;.;.	.;.;.;.	2.200683	0.28064	17.67	0.96519232803555233	0.30108	0.98220	0.80657	D	AEFDBI	0.678869	0.64309	D	-0.0382252595557957	0.40130	2.377999	-0.00460686020590304	0.39506	2.343465	0.999999999764769	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	3.067000	0.49706	1.012000	0.23339	0.599000	0.40250	0.942000	0.32722	0.001000	0.17328	0.040000	0.14268	0.0:1.0:0.0:0.0	19.020	0.92887	949	0.11373	.;Vicinal oxygen chelate (VOC) domain;Vicinal oxygen chelate (VOC) domain;Vicinal oxygen chelate (VOC) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1350.49	37	chr17	770479	.	C	T	1350.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.93;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.644;SOR=0.693	GT:AD:DP:GQ:PL	0/1:73,58:131:99:1361,0,1615	6	0	1	0
chr17	1474644	1474644	C	T	exonic	MYO1C	.	nonsynonymous SNV	MYO1C:NM_001080779:exon17:c.G1763A:p.R588Q,MYO1C:NM_001080950:exon17:c.G1706A:p.R569Q,MYO1C:NM_001363855:exon17:c.G1691A:p.R564Q,MYO1C:NM_033375:exon17:c.G1658A:p.R553Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.15608722653	0.0006	0.000399361	0.0002	0.0014	0	0	0	0	0	0.0004	0.0001488	23	154602	rs45542341	7.32e-05	7.319e-05	7.623e-05	7.014e-05	0.0019	6.181e-05	5.742e-05	0.0015	0.0013	0.0019	8.944e-05	0	0	0	0.0002	1.079e-05	0.0002	0.0002	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	6.538e-05	0	0	0	0	2.94e-05	0	0	0.185	0.23905	T	0.284	0.22359	T	0.227	0.36353	B	0.04	0.27432	B	0.000114	0.50451	D	0.201311	0.742156	0.33834	D	1.46	0.36832	L	-2.13	0.86349	D	-0.69	0.19720	N	0.237	0.28381	-0.0222	0.81793	T	0.438	0.77714	T	10	0.02430588	0.00664	T	0.156087	0.83692	D	0.300	0.62068	.	.	0.835192646461	0.83362	0.3160217475481293	0.31515	0.576793255271	0.53631	0.442267745733	0.30887	T	0.183861	0.58141	T	-0.264856	0.12336	T	-0.183303	0.56215	T	0.0532208027183572	0.06057	T	0.968703	0.88660	D	0.15166144	0.34465	0.12777346	0.30751	0.15166144	0.34465	0.12777346	0.30750	-4.636	0.32621	T	.	.	0.069	0.06295	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.695602	0.52675	23.3	0.99838140866958758	0.91886	0.89452	0.49926	D	AEFDGBHCI	0.385654	0.46631	N	-0.119400384872142	0.36549	2.114073	7.67213222914939e-05	0.39720	2.359418	0.999999997508616	0.74766	0.67177	0.52595	0	0.52208	0.09955	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.15	4.18	0.48473	1.656000	0.36971	2.698000	0.34139	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.329000	0.25179	0.0:0.9156:0.0:0.0844	12.011	0.52584	661	0.61838	.;.;.;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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1185.44	33	chr17	1474644	.	C	T	1185.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.62;DP=285;ExcessHet=0;FS=0.811;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.735;SOR=0.58	GT:AD:DP:GQ:PL	0/1:38,48:86:99:1196,0,792	6	0	1	0
chr17	1635557	1635557	G	A	exonic	SCARF1	.	nonsynonymous SNV	SCARF1:NM_003693:exon11:c.C1694T:p.P565L,SCARF1:NM_145350:exon11:c.C1657T:p.R553C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0349738563669	0.0018	0.00219649	0.0006	0.0048	0.0020	0	0	0	0.0012	6.104e-05	0.0005757	89	154602	rs61738532	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0038	0.0035	0.0043	0.0019	0	0	0	0.0005	2.698e-06	0.0004	9.276e-05	0.0013	0.0013	0.0014	0.0012	0.0044	0.0012	0.0011	0.0039	0.0037	0.0044	0	0.0009	0	0	0	0	4.41e-05	0	0	0.004	0.72154	D	0.333	0.18395	T	0.756	0.43409	P	0.098	0.30479	B	0.014365	0.28553	N	0.167298	0.97165	0.38887	D	.	.	.	1.3	0.35590	T	-3.16	0.64246	D	0.298	0.43995	-0.8798	0.49778	T	0.098	0.36625	T	9	0.008246392	0.00187	T	0.034974	0.56039	D	0.065	0.18881	.	.	0.629422899898	0.62639	0.13930746789703333	0.13853	0.444331026458	0.44345	0.556764423847	0.46811	T	0.197352	0.55400	T	-0.540226	0.00334	T	-0.548233	0.17495	T	0.0507543840835097	0.05632	T	.	.	.	0.11406204	0.26931	0.13809113	0.32989	0.11406204	0.26931	0.13809113	0.32988	-4.306	0.28260	T	.	.	0.082	0.08560	B	.;.	.;.	2.825342	0.37236	20.4	0.99829796452788355	0.91198	0.95041	0.63223	D	AEFDBI	0.497781	0.53216	N	0.350985956758648	0.58793	4.053671	0.394116851794064	0.61201	4.316999	0.917929536004486	0.26556	0.67177	0.52595	0	0.588066	0.40923	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	3.442000	0.52663	7.561000	0.60481	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.273000	0.23843	0.0:0.0:1.0:0.0	14.295	0.65855	506	0.75555	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1035.44	31	chr17	1635557	.	G	A	1035.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.858;DP=241;ExcessHet=0;FS=3.807;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.26;ReadPosRankSum=0.322;SOR=0.333	GT:AD:DP:GQ:PL	0/1:20,40:60:99:1046,0,406	6	0	1	0
chr17	1727213	1727213	C	T	exonic	WDR81	.	nonsynonymous SNV	WDR81:NM_001163809:exon1:c.C2254T:p.P752S	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Autosomal recessive	0	1511	9	2	0	13	0.00428336	.	.	.	727020	not_provided|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_2	MedGen:C3661900|MONDO:MONDO:0012430,MedGen:C2750234,OMIM:610185,Orphanet:1766	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.0124618513485	.	0.000998403	0.0019	0	0	0	0	0.0014	0.0056	0.0031	0.0004916	76	154602	rs200781463	0.0015	0.0014	0.0014	0.0015	0.0054	0.0014	0.0014	0.0039	0.0034	0.0002	0.0010	0.0035	0	0.0008	0.0054	0.0015	0.0014	0.0021	0.0012	0.0012	0.0010	0.0013	0.0029	0.0010	0.0010	0.0018	0.0014	0.0002	0	0.0010	0.0043	0	0.0008	0.0034	0.0016	0.0019	0.0029	0.403	0.10378	T	0.227	0.25362	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	0.8	0.48769	T	-0.34	0.12661	N	0.075	0.04913	-1.0340	0.19173	T	0.076	0.30492	T	6	0.005992919	0.00134	T	0.012462	0.31052	T	0.027	0.05988	.	.	0.446010312102	0.44222	0.1618985332002978	0.16110	0.462113211876	0.45742	0.283152282238	0.07936	T	0.012492	0.10973	T	-0.532944	0.00369	T	-0.54479	0.17829	T	0.0131296711042523	0.00231	T	0.672833	0.28129	T	0.061643362	0.12789	0.0661384	0.13507	0.061643362	0.12789	0.0661384	0.13506	-5.004	0.36883	T	.	.	0.104	0.18828	B	.	.	1.260675	0.16584	12.63	0.70272724247983298	0.09241	0.20108	0.20918	N	AEFBI	0.158121	0.28373	N	-0.346179257426131	0.27413	1.503801	-0.389701120661279	0.25303	1.390671	0.972692414297421	0.29392	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	5.62	4.61	0.56724	1.170000	0.31493	1.801000	0.28882	0.599000	0.40250	0.001000	0.13787	0.041000	0.21590	0.317000	0.24900	0.1451:0.4879:0.367:0.0	10.161	0.42024	665	0.61472	.	.	.	.	.	.	Likely benign	0	0	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	0.006085	0.011111	0.004854	0.008333	0.000000	0.000000	0.000000	0.008197	0.07143	1011.46	35	chr17	1727213	.	C	T	1011.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.075;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.39;ReadPosRankSum=-1.321;SOR=0.787	GT:AD:DP:GQ:PL	0/1:20,35:55:99:1022,0,467	6	0	1	0
chr17	2692410	2692410	C	A	exonic	CLUH	.	nonsynonymous SNV	CLUH:NM_001366661:exon22:c.G3511T:p.A1171S,CLUH:NM_001366662:exon22:c.G3394T:p.A1132S,CLUH:NM_015229:exon22:c.G3508T:p.A1170S	.	397	1120	5	0	0	5	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	.	.	0.00499201	0.0047	0	0	0	0	2.02e-05	0.0049	0.0326	0.0030853	477	154602	rs374574637	0.0015	0.0015	0.0009	0.0022	0.0247	0.0015	0.0015	0.0238	0.0235	2.991e-05	0	0	2.522e-05	0	0.0010	2.07e-05	0.0014	0.0247	0.0007	0.0007	0.0004	0.0010	0.0217	0.0006	0.0006	0.0184	0.0171	9.622e-05	0	6.533e-05	0	0	0	0	1.47e-05	0	0.0217	0.381	0.11156	T	0.708	0.05563	T	0.001	0.07471	B	0.014	0.16862	B	0.000093	0.51296	D	0.175549	0.894365	0.36024	D	0.955	0.23872	L	-3.47	0.94546	D	-0.63	0.18459	N	0.3	0.33904	0.013	0.82523	D	0.676	0.88789	D	10	0.01041466	0.00232	T	.	.	.	0.295	0.61502	0.484	0.56621	0.520009876369	0.51646	0.05674007720537677	0.05615	0.285566892373	0.30966	0.502711713314	0.39205	T	0.289065	0.73916	T	-0.312979	0.07488	T	-0.202752	0.54385	T	0.0224812488939911	0.00963	T	0.816118	0.47137	T	0.043311667	0.06728	0.06270032	0.12309	0.043311667	0.06728	0.06270032	0.12308	-3.113	0.11446	T	.	.	0.080	0.09191	B	.;.;.	.;.;.	2.698409	0.35241	19.85	0.96920347433293241	0.31613	0.83072	0.42221	D	AEFDBCI	0.474616	0.51881	N	-0.200092575555859	0.33129	1.876182	-0.0301639275701185	0.38358	2.258852	0.0153334652626431	0.12702	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.94	3.94	0.44807	1.092000	0.30538	2.706000	0.34198	0.596000	0.33519	0.987000	0.36337	1.000000	0.68203	0.985000	0.61073	0.0:0.8372:0.0:0.1628	9.438	0.37814	911	0.21964	.;.;.	.	.	.	.	.	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	0.004555	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.026718	0.07143	1008.63	33	chr17	2692410	.	C	A	1008.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.309;DP=247;ExcessHet=0;FS=1.962;MLEAC=1;MLEAF=0.071;MQ=59.73;MQRankSum=1.14;QD=13.63;ReadPosRankSum=0.452;SOR=0.493	GT:AD:DP:GQ:PL	0/1:33,41:74:99:1019,0,870	6	0	1	0
chr17	4181278	4181278	G	T	exonic	ANKFY1	.	nonsynonymous SNV	ANKFY1:NM_001257999:exon16:c.C2342A:p.P781H,ANKFY1:NM_001330063:exon16:c.C2216A:p.P739H,ANKFY1:NM_016376:exon16:c.C2219A:p.P740H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0396473561874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.606	0.31427	T	0.108	0.31472	B	0.139	0.33484	B	0.563998	0.11307	N	0.812903	1	0.20581	N	0.545	0.13751	N	-0.1	0.64264	T	.	.	.	0.341	0.41360	-0.9562	0.39879	T	0.092	0.34983	T	9	0.13677302	0.26020	T	0.039647	0.58928	D	0.184	0.45763	0.292	0.25400	0.392430962328	0.38859	0.19264689830997184	0.19182	0.738080236287	0.63091	0.390292286873	0.23711	T	0.025888	0.19267	T	-0.115742	0.33822	T	-0.404032	0.32915	T	0.22485600464523	0.21703	T	0.934407	0.75457	D	0.07382982	0.16526	0.09255638	0.21819	0.07382982	0.16526	0.09255638	0.21819	-7.032	0.55345	T	.	.	0.081	0.09094	B	.;.;.	.;.;.	2.690029	0.35109	19.81	0.67561114856995785	0.08392	0.71978	0.35249	D	AEFBI	0.125479	0.24199	N	-0.406771651256695	0.25232	1.368157	-0.352214551581917	0.26441	1.460462	0.022961740688827	0.13472	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	3.31	0.37025	3.989000	0.56670	6.614000	0.56098	0.676000	0.76740	0.951000	0.33123	0.998000	0.33993	0.796000	0.37562	0.0878:0.0:0.6072:0.305	6.776	0.22804	334	0.86273	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	.	.	.	.	.	.	.	.	0.07143	42.63	33	chr17	4181278	.	G	T	42.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.203;DP=226;ExcessHet=0;FS=30.835;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.633;SOR=4.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,10:61:53:0|1:4181277_G_T:53,0,1845:4181277	6	0	1	0
chr17	4554215	4554215	C	G	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon3:c.G358C:p.D120H,MYBBP1A:NM_014520:exon3:c.G358C:p.D120H	.	418	1082	21	1	0	23	0.0105167	.	.	.	2814743	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0076	0.00199681	0.0078	0.0014	0.0012	0	0.0070	0.0118	0.0066	0.0049	0.0074579	1153	154602	rs142004671	0.0080	0.0080	0.0081	0.0079	0.0109	0.0078	0.0078	0.0088	0.0081	0.0013	0.0012	0.0391	0	0.0058	0.0109	0.0083	0.0085	0.0046	0.0062	0.0062	0.0061	0.0062	0.0085	0.0058	0.0057	0.0079	0.0077	0.0015	0	0.0035	0.0352	0	0.0071	0.0102	0.0085	0.0062	0.0070	0.023	0.49613	D	0.031	0.54159	D	0.928	0.52977	P	0.682	0.57594	P	0.210206	0.16384	N	0.640390	1	0.08975	N	2.24	0.63355	M	0.96	0.42888	T	-1.54	0.37375	N	0.333	0.37405	-1.0151	0.25304	T	0.102	0.37593	T	10	0.0081909	0.00186	T	.	.	.	0.103	0.29403	.	.	0.557519804684	0.55412	0.2207044583696533	0.21985	.	.	0.322130858898	0.13744	T	0.036362	0.24073	T	-0.476759	0.00773	T	-0.449646	0.27737	T	0.0315098894913136	0.02228	T	0.90121	0.65680	D	0.07455327	0.16739	0.09663519	0.22970	0.07455327	0.16739	0.09663519	0.22969	-7.802	0.59713	D	.	.	0.155	0.35098	B	.;.	.;.	2.340211	0.29987	18.30	0.99218316548581387	0.55808	0.45620	0.27579	N	AEFGBI	0.214466	0.33993	N	-0.228159475054488	0.31982	1.798906	-0.382606708469777	0.25515	1.403658	0.999905578868255	0.45458	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.25	0.588	0.16630	0.053000	0.14067	0.090000	0.14504	0.599000	0.40250	0.025000	0.20085	0.000000	0.08366	0.830000	0.39126	0.0:0.4527:0.0:0.5473	8.507	0.32356	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	1	0	0.007049	0.000000	0.006793	0.026316	0.000000	0.000000	0.003049	0.000000	0.07143	549.63	33	chr17	4554215	.	C	G	549.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.217;DP=217;ExcessHet=0;FS=1.106;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.841;SOR=0.483	GT:AD:DP:GQ:PL	0/1:28,22:50:99:560,0,748	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7280.03	66	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	7280.03	.	AC=7;AF=0.5;AN=14;DP=857;ExcessHet=0.3476;FS=12.078;MLEAC=7;MLEAF=0.5;MQ=59.78;MQRankSum=0;QD=12.34;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:6,98:104:99:1|1:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:2635,251,0:4933876	1	1	5	0
chr17	5183254	5183254	G	A	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.C1003T:p.R335C	.	410	1111	0	1	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00104059016157	7.9e-05	.	0.0001	0.0001	8.639e-05	0	0	0.0001	0	0.0004	0.0001164	18	154602	rs201111582	5.815e-05	5.883e-05	4.9e-05	6.738e-05	0.0005	4.809e-05	4.431e-05	0.0004	0.0004	5.974e-05	4.472e-05	0	0.0003	1.873e-05	0	1.888e-05	3.311e-05	0.0005	2.631e-05	2.628e-05	1.286e-05	4.039e-05	6.546e-05	8.15e-06	5.14e-06	8.01e-06	3e-06	4.835e-05	0	6.546e-05	0	0	0	0	1.47e-05	0	0	0.212	0.19500	T	0.086	0.40909	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	2.42	0.70002	M	2.38	0.15843	T	-2.72	0.57920	D	0.051	0.02366	-0.9686	0.37489	T	0.037	0.15943	T	9	0.04911521	0.04456	T	0.001041	0.01167	T	0.011	0.01250	.	.	0.0846915920261	0.08053	0.019411512469134636	0.01895	0.0116602894049	0.01096	0.254263818264	0.04230	T	0.032716	0.22609	T	-0.583382	0.00184	T	-0.747804	0.03572	T	0.0176849919258588	0.00499	T	0.00241794	0.00006	T	0.07132839	0.15784	0.06350669	0.12589	0.07132839	0.15783	0.06350669	0.12588	-4.945	0.36237	T	.	.	0.162	0.36073	B	.;.	.;.	0.642080	0.10104	6.852	0.6363562178963339	0.07276	0.00000	0.00017	N	AEFDBHCI	0.025832	0.01836	N	-1.30165498590397	0.03657	0.1637334	-1.47362665519532	0.02563	0.1180756	0.0119788966067765	0.12262	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	2.5	-4.1	0.03674	-3.251000	0.00597	-11.266000	0.00620	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5081:0.0:0.2268:0.2652	3.518	0.07288	523	0.74147	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1877.49	45	chr17	5183254	.	G	A	1877.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=395;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.81;SOR=0.701	GT:AD:DP:GQ:PL	0/1:77,68:145:99:1888,0,1966	6	0	1	0
chr17	7701460	7701460	G	A	exonic	WRAP53	.	nonsynonymous SNV	WRAP53:NM_018081:exon5:c.G733A:p.V245M,WRAP53:NM_001143990:exon6:c.G733A:p.V245M,WRAP53:NM_001143991:exon6:c.G733A:p.V245M,WRAP53:NM_001143992:exon6:c.G733A:p.V245M	Dyskeratosis congenita, autosomal recessive 3, Autosomal recessive	0	1509	12	1	0	14	0.00461741	0.0417	0.154	.	1105430	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.172	0.0283272748928	0.0002	0.000599042	0.0006	9.669e-05	8.642e-05	0.0001	0.0002	0.0001	0	0.0034	0.0004786	74	154602	rs144944332	0.0003	0.0003	0.0002	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0.0002	2.236e-05	0	0	9.36e-05	0.0014	5.036e-05	0.0003	0.0032	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	0.0003	0	6.536e-05	0	0	9.425e-05	0.0034	0.0001	0.0005	0.0010	0.078	0.44694	T	0.093	0.44106	T	0.996	0.73220	D	0.818	0.58969	P	0.007805	0.31183	N	0.261548	0.978613	0.39479	D	.	.	.	-0.33	0.68329	T	-0.11	0.08653	N	0.387	0.43320	-0.4905	0.68991	T	0.297	0.66858	T	10	0.012597799	0.00270	T	0.028327	0.51021	D	0.172	0.43662	.	.	0.229543500084	0.22568	0.35267857499428573	0.35181	0.828428807706	0.67523	0.714484930038	0.69244	T	0.026283	0.19484	T	-0.385467	0.02877	T	-0.328895	0.41593	T	0.033704614872198	0.02588	T	0.756224	0.37950	T	0.025813418	0.01563	0.055137996	0.09615	0.025813418	0.01563	0.055137996	0.09614	-8.776	0.66244	D	.	.	0.204	0.61321	B	.;.;.;.;.	.;.;.;.;.	4.834227	0.78857	27.0	0.99785312700102347	0.87131	0.82770	0.41953	D	AEFDBI	0.207703	0.33385	N	0.324358254153065	0.57400	3.907313	0.277998178042611	0.54258	3.591272	3.95249247150924E-4	0.06820	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.9	2.92	0.32998	2.282000	0.43122	6.681000	0.56310	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.985000	0.61073	0.1075:0.0:0.8925:0.0	9.502	0.38189	402	0.82617	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.004028	0.000000	0.002717	0.005848	0.000000	0.008621	0.000000	0.011364	0.07143	2090.44	34	chr17	7701460	.	G	A	2090.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.53;DP=320;ExcessHet=0;FS=3.146;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.724;SOR=1.003	GT:AD:DP:GQ:PL	0/1:56,79:135:99:2101,0,1278	6	0	1	0
chr17	8174576	8174576	G	C	exonic	TMEM107	.	nonsynonymous SNV	TMEM107:NM_001351278:exon4:c.C315G:p.F105L,TMEM107:NM_001351279:exon4:c.C297G:p.F99L,TMEM107:NM_032354:exon4:c.C315G:p.F105L,TMEM107:NM_183065:exon4:c.C297G:p.F99L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.00708425211287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.512e-05	0.0007	1.231e-05	1.795e-05	0.0002	9.9e-06	8.45e-06	1.181e-05	9.6e-06	0	0	0	0	0	0.0002	1.808e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.13349	T	0.262	0.23984	T	0.996	0.68779	D	0.98	0.74843	D	0.379952	0.04413	N	1.368220	0.912812	0.81001	D	2.015	0.55033	M	.	.	.	-2.23	0.50012	N	0.572	0.60325	-0.7826	0.56155	T	0.364	0.72460	T	9	0.49340042	0.61124	T	0.007084	0.18759	T	0.297	0.61730	0.424	0.46857	0.0297737177859	0.01360	0.7206597575917854	0.72008	0.875831749287	0.69562	0.769055366516	0.77283	T	0.04577	0.27224	T	0.309962	0.83743	D	0.207462	0.83533	D	0.850467026233673	0.50206	D	0.850115	0.60710	D	0.093706325	0.22014	0.1302798	0.31307	0.093706325	0.22014	0.1302798	0.31307	-3.888	0.22122	T	0.16524561158880893	0.20471	0.788	0.77750	P	.;.;.	.;.;.	3.356563	0.46317	22.3	0.99802010137586417	0.88639	0.78447	0.38704	D	AEFBHC	0.275885	0.39074	N	0.32608846708208	0.57491	3.916634	0.266412907425972	0.53589	3.527069	0.998673458369918	0.37434	0.542737	0.22433	0	0.685571	0.66316	0	0.694767	0.63188	0	0.605231	0.38476	0	.	.	5.92	2.0	0.25495	1.407000	0.34266	4.374000	0.43159	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.1131:0.0:0.8869:0.0	9.233	0.36612	306	0.87689	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	233.65	39	chr17	8174576	.	G	C	233.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.93;DP=369;ExcessHet=0.3476;FS=112.656;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.83;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,22:141:99:0|1:8174576_G_C:118,0,4397:8174576	5	0	2	0
chr17	8174580	8174580	G	C	exonic	TMEM107	.	nonsynonymous SNV	TMEM107:NM_001351278:exon4:c.C311G:p.S104C,TMEM107:NM_001351279:exon4:c.C293G:p.S98C,TMEM107:NM_032354:exon4:c.C311G:p.S104C,TMEM107:NM_183065:exon4:c.C293G:p.S98C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.00514127407592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0006	1.368e-05	1.104e-05	2.322e-05	7.73e-06	6.38e-06	6.56e-06	5.05e-06	0	0	0	0	0	0	1.175e-05	4.984e-05	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.087	0.40747	T	0.99	0.70673	D	0.799	0.59825	P	0.309680	0.04007	N	1.429840	1	0.81001	D	2.085	0.57729	M	.	.	.	-2.94	0.63090	D	0.696	0.71321	-0.6593	0.62307	T	0.422	0.76690	T	9	0.6877756	0.71667	D	0.005141	0.13063	T	0.220	0.51569	0.418	0.45873	0.0297737177859	0.01360	0.6458913168477342	0.64524	1.47718410031	0.86649	0.608164668083	0.54056	T	0.122346	0.44595	T	0.133133	0.67665	D	-0.0465405	0.67259	D	0.906777620315552	0.56088	D	0.90311	0.66064	D	0.19705051	0.41556	0.15418917	0.36198	0.19705051	0.41556	0.15418917	0.36197	-3.993	0.28872	T	0.5338197544688219	0.60434	0.136	0.34862	B	.;.;.	.;.;.	4.170555	0.62707	24.5	0.98937053651445062	0.48864	0.83468	0.42583	D	AEFBHC	0.336545	0.43463	N	0.614204160208366	0.74073	6.071017	0.629546438358449	0.77097	6.613919	0.999999965267458	0.74766	0.608746	0.35421	0	0.587265	0.34161	0	0.694767	0.63188	0	0.605231	0.38476	0	.	.	5.92	5.92	0.95557	2.188000	0.42243	9.849000	0.81976	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	15.819	0.78400	306	0.87689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	238.65	39	chr17	8174580	.	G	C	238.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.439;DP=372;ExcessHet=0.3476;FS=111.142;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=2.2;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,22:139:99:0|1:8174576_G_C:123,0,4359:8174576	5	0	2	0
chr17	8174584	8174584	G	C	exonic	TMEM107	.	nonsynonymous SNV	TMEM107:NM_001351278:exon4:c.C307G:p.L103V,TMEM107:NM_001351279:exon4:c.C289G:p.L97V,TMEM107:NM_032354:exon4:c.C307G:p.L103V,TMEM107:NM_183065:exon4:c.C289G:p.L97V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0140421232265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	7.524e-06	2.722e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.56456	D	0.022	0.58089	D	0.1	0.73220	B	0.073	0.78936	B	0.047715	0.23319	N	0.382516	1	0.81001	D	2.42	0.70002	M	.	.	.	-1.69	0.43717	N	0.541	0.63459	-0.6637	0.62113	T	0.281	0.65280	T	9	0.3647289	0.53011	T	0.014042	0.33885	T	0.203	0.48915	0.692	0.82938	0.0138822411134	0.00435	0.8337530561023957	0.83334	1.56021622753	0.88027	0.60396283865	0.53463	T	0.050056	0.28486	T	0.174122	0.71501	D	0.012338	0.71133	D	0.854229768616039	0.50534	D	0.905209	0.66592	D	0.1305304	0.30453	0.13564537	0.32471	0.1305304	0.30453	0.13564537	0.32471	-4.093	0.29353	T	0.5639296545248847	0.63149	0.275	0.55788	B	.;.;.	.;.;.	3.724027	0.53232	23.3	0.99695596692605004	0.80248	0.70041	0.34428	D	AEFBHC	0.133706	0.25346	N	0.00100626654297573	0.41900	2.514694	0.0461761497681474	0.41888	2.524	0.998454773613857	0.36996	0.608746	0.35421	0	0.587265	0.34161	0	0.694767	0.63188	0	0.605231	0.38476	0	.	.	5.92	2.34	0.28071	0.677000	0.24942	4.292000	0.42914	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.984000	0.60418	0.18:0.0:0.6634:0.1565	5.934	0.18396	306	0.87689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	255.27	39	chr17	8174584	.	G	C	255.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.921;DP=417;ExcessHet=0.3476;FS=178.848;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=1.76;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,22:139:99:0|1:8174576_G_C:123,0,4340:8174576	4	0	2	1
chr17	8174586	8174586	G	A	exonic	TMEM107	.	nonsynonymous SNV	TMEM107:NM_001351278:exon4:c.C305T:p.A102V,TMEM107:NM_001351279:exon4:c.C287T:p.A96V,TMEM107:NM_032354:exon4:c.C305T:p.A102V,TMEM107:NM_183065:exon4:c.C287T:p.A96V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.00321349846174	.	.	8.273e-06	0	8.667e-05	0	0	0	0	0	6.5e-06	1	154602	rs762032078	2.052e-06	2.052e-06	1.361e-06	2.75e-06	4.472e-05	5.5e-07	1.5e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.29959	T	0.09	0.41573	T	0.361	0.43659	B	0.214	0.41496	B	0.647929	0.05906	N	1.188530	0.996233	0.81001	D	1.795	0.47270	L	.	.	.	-1.55	0.42384	N	0.434	0.47301	-0.8970	0.48293	T	0.212	0.57201	T	9	0.2338396	0.40411	T	0.003213	0.07057	T	0.120	0.33359	0.47	0.54376	0.0138822411134	0.00435	0.5447515103588613	0.54401	0.786814896242	0.65570	0.58817255497	0.51236	T	0.038104	0.24721	T	-0.0608368	0.42776	T	-0.242299	0.50574	T	0.385473254764863	0.28392	T	0.918808	0.70803	D	0.13655403	0.31651	0.14731959	0.34868	0.13655403	0.31651	0.14731959	0.34867	-3.542	0.17025	T	0.2708702420581789	0.36443	0.192	0.44267	B	.;.;.	.;.;.	3.499455	0.48948	22.7	0.99771976248446648	0.86003	0.83362	0.42485	D	AEFBHC	0.478187	0.52086	N	0.235744521745357	0.52937	3.465097	0.36882925376005	0.59649	4.144679	0.999999999997209	0.74766	0.608746	0.35421	0	0.587265	0.34161	0	0.694767	0.63188	0	0.605231	0.38476	0	.	.	5.92	5.92	0.95557	3.737000	0.54781	8.617000	0.77794	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	15.819	0.78400	306	0.87689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	118.45	39	chr17	8174586	.	G	A	118.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.909;DP=336;ExcessHet=0;FS=71.877;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=3.16;SOR=6.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,22:137:99:0|1:8174576_G_C:129,0,4272:8174576	6	0	1	0
chr17	8797500	8797500	T	C	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.A1621G:p.I541V	.	.	.	.	.	.	.	.	.	.	.	3278658	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.0523553198258	.	.	1.654e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs766992966	1.984e-05	1.984e-05	1.77e-05	2.2e-05	0.0006	1.392e-05	1.203e-05	0.0004	0.0003	0.0006	0	0	0	0	0.0003	0	8.28e-05	2.319e-05	7.883e-05	7.879e-05	0.0001	4.034e-05	0.0003	4.496e-05	3.511e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.596	0.05703	T	0.687	0.05976	T	0.002	0.09854	B	0.005	0.11217	B	0.084504	0.20693	N	0.452954	0.994262	0.23554	N	1.035	0.25616	L	-3.47	0.94546	D	-0.5	0.15782	N	0.039	0.01274	-0.4729	0.69623	T	0.579	0.84858	D	10	0.04763198	0.04106	T	0.052355	0.65037	D	0.222	0.51872	.	.	0.0611884634855	0.05136	0.07438195666183844	0.07374	0.0941342584963	0.10624	0.293147683144	0.09382	T	0.003664	0.03070	T	-0.181638	0.23491	T	-0.262018	0.48622	T	0.00826416427131232	0.00099	T	0.394361	0.09853	T	0.014063284	0.00079	0.022973582	0.00314	0.014063284	0.00079	0.022973582	0.00314	-2.433	0.05339	T	.	.	0.083	0.09288	B	.	.	-1.219002	0.00512	0.012	0.36615013039730254	0.02365	0.11678	0.16791	N	AEFDGBCI	0.076864	0.15473	N	-1.19190806180188	0.05122	0.2327378	-1.15786815557855	0.06628	0.3196575	0.00329723857539322	0.10040	0.713056	0.82018	0	0.552637	0.17590	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	5.03	-1.07	0.09459	-0.395000	0.07347	-3.507000	0.02734	-0.113000	0.14837	0.001000	0.13787	0.000000	0.08366	0.597000	0.31313	0.0:0.4674:0.146:0.3866	7.247	0.25302	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1485.45	35	chr17	8797500	.	T	C	1485.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.851;DP=346;ExcessHet=0;FS=0.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-0.554;SOR=0.768	GT:AD:DP:GQ:PL	0/1:100,68:168:99:1496,0,2552	6	0	1	0
chr17	10451358	10451358	G	A	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon28:c.C3833T:p.S1278L	.	437	1073	12	0	0	12	0.0055607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0250080218731	0.0003	0.000998403	0.0009	0.0002	0.0002	0	0	0.0005	0.0044	0.0043	0.0007762	120	154602	rs145453135	0.0007	0.0007	0.0005	0.0008	0.0042	0.0006	0.0006	0.0039	0.0037	5.974e-05	8.949e-05	7.663e-05	2.52e-05	0	0.0031	0.0005	0.0008	0.0042	0.0005	0.0005	0.0004	0.0006	0.0056	0.0004	0.0004	0.0040	0.0034	9.623e-05	0	0	0	0	9.416e-05	0.0034	0.0006	0.0005	0.0056	0.002	0.72154	D	0.132	0.34477	T	0.019	0.17989	B	0.032	0.22131	B	0.651406	0.10509	U	0.725538	0.999973	0.18612	N	2.295	0.65404	M	-1.17	0.78199	T	-2.56	0.55339	D	0.381	0.42247	-0.5019	0.68582	T	0.448	0.78348	T	10	0.008505881	0.00193	T	0.025008	0.47992	D	0.346	0.66769	.	.	0.796884379247	0.79499	0.15152543263563856	0.15074	0.16406042918	0.18510	0.474094808102	0.35243	T	0.469485	0.80300	T	-0.373122	0.03439	T	-0.308885	0.43778	T	0.0573092977570532	0.06739	T	0.89801	0.64352	D	0.19731736	0.41592	0.31166255	0.57172	0.19731736	0.41592	0.31166255	0.57171	-7.558	0.58017	D	.	.	0.088	0.11797	B	.	.	4.014388	0.59245	24.1	0.99807052912013572	0.89085	0.22646	0.21816	N	AEFI	0.209701	0.33565	N	-0.161371435633514	0.34751	1.987468	-0.0952495380354962	0.35586	2.060597	1.66813247063777E-4	0.05721	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	-0.109000	0.10810	8.601000	0.77727	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.7495:0.2505	13.971	0.63755	90	0.96275	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.1429	3322.63	34	chr17	10451358	.	G	A	3322.63	.	AC=2;AF=0.143;AN=14;DP=288;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.89;SOR=0.899	GT:AD:DP:GQ:PL	1/1:0,115:115:99:3343,344,0	6	1	0	0
chr17	32050086	32050086	T	G	exonic	LRRC37B	.	nonsynonymous SNV	LRRC37B:NM_052888:exon11:c.T2760G:p.I920M,LRRC37B:NM_001321350:exon14:c.T2514G:p.I838M	.	508	1003	11	0	0	11	0.00545364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00410719751957	7.7e-05	0.00159744	0.0010	0	8.72e-05	0.0004	0	0.0001	0.0034	0.0062	0.000815	126	154602	rs139116171	0.0004	0.0004	0.0002	0.0007	0.0064	0.0004	0.0004	0.0059	0.0058	0	0	0	5.085e-05	0	0.0019	3.418e-05	0.0005	0.0064	0.0003	0.0003	0.0002	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	2.406e-05	0	0	0	0.0002	0	0	8.821e-05	0	0.0068	0.002	0.78490	D	0.0	0.92824	D	0.992	0.64738	D	0.488	0.47288	P	.	.	.	.	1	0.08975	N	1.545	0.39105	L	0.44	0.56609	T	-2.11	0.48020	N	0.319	0.44761	-0.9198	0.45581	T	0.155	0.48636	T	9	0.0062882304	0.00142	T	0.004107	0.09838	T	0.139	0.37390	.	.	0.171220215726	0.16700	0.0796665085109262	0.07901	1.13374842906	0.78709	0.48195618391	0.36327	T	0.03748	0.25348	T	-0.43701	0.01346	T	-0.397899	0.33628	T	0.0459167522278203	0.04768	T	0.821518	0.49005	T	0.27104175	0.50175	0.19021787	0.42412	0.27104175	0.50175	0.19021787	0.42411	-8.675	0.65583	D	.	.	0.107	0.26357	B	.;.;.;.;.	.;.;.;.;.	0.954238	0.13303	9.807	0.21520931450192912	0.00824	0.01244	0.04385	N	AEFI	0.024153	0.01450	N	-0.701686904588069	0.15974	0.8098206	-0.977271374482864	0.10296	0.5176848	1.27678049995243E-6	0.01202	0.651	0.46895	0	0.633656	0.55848	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	1.78	-0.959	0.09816	0.824000	0.27034	-1.398000	0.05533	0.233000	0.18164	0.035000	0.20724	0.000000	0.08366	0.004000	0.06068	0.0:0.1928:0.2902:0.517	2.474	0.04292	969	0.06854	LRRC37A/B like protein 1, C-terminal;LRRC37A/B like protein 1, C-terminal;LRRC37A/B like protein 1, C-terminal;LRRC37A/B like protein 1, C-terminal;LRRC37A/B like protein 1, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002525	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.015152	0.07143	796.83	17	chr17	32050086	.	T	G	796.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.051;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.237;SOR=0.755	GT:AD:DP:GQ:PL	0/1:28,32:60:99:807,0,695	6	0	1	0
chr17	35745554	35745554	C	T	exonic	GAS2L2	.	nonsynonymous SNV	GAS2L2:NM_139285:exon6:c.G1943A:p.G648E	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00918094189006	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0005	0.0001229	19	154602	rs587736415	4.996e-05	5.062e-05	3.268e-05	6.74e-05	0.0005	4.06e-05	3.735e-05	0.0004	0.0003	0	0	0	0	1.887e-05	0	2.518e-05	4.969e-05	0.0005	4.597e-05	4.593e-05	3.854e-05	5.373e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0	0	2.941e-05	0	0.0008	.	.	.	0.012	0.63918	D	0.906	0.49993	P	0.444	0.45865	B	0.004183	0.34013	N	0.195347	0.826206	0.34849	D	0.975	0.24501	L	1.73	0.26588	T	.	.	.	0.439	0.55106	-1.0053	0.28368	T	0.055	0.23110	T	10	0.09854373	0.17825	T	0.009181	0.24130	T	.	.	0.351	0.34922	0.482721949076	0.47902	0.41924712212233234	0.41840	.	.	0.427368789911	0.28849	T	0.013	0.11390	T	-0.462867	0.00943	T	-0.574692	0.15021	T	0.353060781955719	0.27138	T	0.759024	0.38317	T	0.15588789	0.35208	0.2908633	0.55110	0.15588789	0.35208	0.2908633	0.55109	-3.6	0.17857	T	.	.	0.166	0.36673	B	.;.	.;.	2.720910	0.35591	19.94	0.99412583450366077	0.63358	0.52985	0.29262	D	AEFDBCI	0.179905	0.30720	N	-0.00787130100942963	0.41498	2.483279	-0.0207716814995566	0.38778	2.289551	3.20607904848468E-4	0.06498	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.75	2.7	0.31007	0.164000	0.16359	1.675000	0.27978	0.549000	0.26987	0.011000	0.18532	0.809000	0.27020	0.641000	0.32449	0.0:0.6815:0.3185:0.0	12.542	0.55527	461	0.78683	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2297.63	35	chr17	35745554	.	C	T	2297.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.12;DP=364;ExcessHet=0;FS=1.94;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-2.971;SOR=0.532	GT:AD:DP:GQ:PL	0/1:91,89:180:99:2308,0,2438	6	0	1	0
chr17	36171926	36171926	G	C	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon6:c.C426G:p.I142M,TBC1D3B:NM_001001417:exon7:c.C426G:p.I142M,TBC1D3H:NM_001123392:exon7:c.C426G:p.I142M,TBC1D3L:NM_001291459:exon7:c.C426G:p.I142M,TBC1D3G:NM_001291462:exon7:c.C426G:p.I142M,TBC1D3I:NM_001291463:exon7:c.C426G:p.I142M,TBC1D3D:NM_001291465:exon7:c.C426G:p.I142M	.	429	1083	8	2	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	.	0.00139776	0.0008	0	0	0	0	0	0	0.0120	5.82e-05	9	154602	rs199878721	0.0003	0.0003	0.0003	0.0004	0.0032	0.0003	0.0003	0.0029	0.0028	2.989e-05	4.477e-05	0.0018	0	0	0.0013	5.957e-05	0.0008	0.0032	0.0003	0.0003	0.0002	0.0004	0.0053	0.0002	0.0002	0.0037	0.0031	0	0	0	0.0023	0	0	0	8.98e-05	0.0005	0.0053	.	.	.	0.002	0.79402	D	0.961	0.55431	D	0.873	0.61978	P	0.000625	0.42799	U	0.193757	0.989412	0.24298	N	2.365	0.68172	M	.	.	.	.	.	.	0.339	0.38027	-0.9789	0.35254	T	0.153	0.48188	T	8	0.006297171	0.00142	T	.	.	.	.	.	0.49	0.57573	0.043077524339	0.03247	0.03892170817123334	0.03838	.	.	0.737821936607	0.72652	T	0.098154	0.40169	T	-0.298517	0.08799	T	-0.666575	0.07830	T	0.0781075113407463	0.09743	T	0.776522	0.40874	T	0.10591566	0.25044	0.08650662	0.20045	0.10591566	0.25044	0.08650662	0.20045	-7.079	0.54609	T	.	.	0.161	0.35540	B	.	.	1.323790	0.17281	13.07	0.98112361103443824	0.38367	0.11735	0.16828	N	AEFI	0.042865	0.06705	N	-0.288668334031737	0.29585	1.64196	-0.586235652965016	0.19851	1.066956	1.0951368526546E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.218000	0.17407	-3.700000	0.02596	-0.709000	0.03961	0.362000	0.25859	0.000000	0.08366	0.001000	0.02609	.	.	.	882	0.29131	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	853.49	37	chr17	36171926	.	G	C	853.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.23;DP=493;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=38.94;MQRankSum=-3.561;QD=2.78;ReadPosRankSum=1.63;SOR=0.711	GT:AD:DP:GQ:PL	0/1:243,64:307:99:864,0,5712	6	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	2132.02	55	chr17	37257713	.	C	T	2132.02	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.609;DP=417;ExcessHet=8.2628;FS=426.457;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=5.32;ReadPosRankSum=0.389;SOR=10.646	GT:AD:DP:GQ:PL	0/1:34,40:76:99:493,0,399	1	0	6	0
chr17	38962857	38962857	T	C	exonic	FBXO47	.	nonsynonymous SNV	FBXO47:NM_001008777:exon2:c.A169G:p.K57E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00826933114303	.	.	5.966e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs766011981	4.183e-05	4.173e-05	9.555e-06	7.442e-05	0.0007	3.319e-05	3.008e-05	0.0005	0.0005	0	0	0	0	0	0.0002	2.702e-06	0	0.0007	1.973e-05	1.971e-05	0	4.04e-05	0.0006	5.25e-06	2.46e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.980149	0.08099	N	0.992247	0.99846	0.22137	N	-0.695	0.01866	N	0.58	0.54149	T	-0.08	0.08187	N	0.06	0.03175	-0.9994	0.30087	T	0.054	0.23034	T	10	0.024658173	0.00686	T	0.008269	0.21903	T	0.132	0.35948	0.317	0.29419	0.263612267334	0.25957	0.342937317032872	0.34206	0.0958678412206	0.10824	0.258754968643	0.04743	T	0.004664	0.04071	T	-0.47096	0.00838	T	-0.590335	0.13636	T	0.0606497908182801	0.07271	T	0.380662	0.09189	T	0.08032125	0.18397	0.10251394	0.24573	0.08032125	0.18397	0.10251394	0.24573	-3.372	0.14682	T	.	.	0.084	0.09578	B	.	.	2.366015	0.30352	18.41	0.32622372767837332	0.01900	0.61210	0.31418	D	AEI	0.034976	0.04426	N	-0.646777037644671	0.17553	0.9042783	-0.406876885757993	0.24795	1.359806	7.9960803085814E-4	0.07826	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.14	4.02	0.45968	1.012000	0.29527	2.783000	0.34747	0.665000	0.62972	0.927000	0.32177	0.999000	0.35428	0.997000	0.79791	0.0:0.1514:0.0:0.8486	6.488	0.21298	381	0.83684	F-box domain|F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	165.83	17	chr17	38962857	.	T	C	165.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.287;DP=115;ExcessHet=0;FS=1.719;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=-0.643;SOR=0.368	GT:AD:DP:GQ:PL	0/1:12,9:21:99:176,0,303	6	0	1	0
chr17	39408665	39408667	AAG	-	exonic	MED1	.	nonframeshift deletion	MED1:NM_004774:exon17:c.3554_3556del:p.S1185del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	8.637e-05	0.0001	0	0	0	0.0007	0.0001035	16	154602	rs754513286	7.182e-05	7.182e-05	1.906e-05	0.0001	0.0011	6.047e-05	5.595e-05	0.0010	0.0009	2.987e-05	0	0	2.519e-05	0	0	1.799e-06	4.967e-05	0.0011	8.537e-05	8.53e-05	5.14e-05	0.0001	0.0019	4.955e-05	3.961e-05	0.0010	0.0007	7.22e-05	0	0	0	0	0	0	1.47e-05	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3657.4	35	chr17	39408664	.	AAAG	A	3657.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.073;DP=398;ExcessHet=0;FS=2.357;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=-2.052;SOR=0.88	GT:AD:DP:GQ:PL	0/1:115,97:212:99:3668,0,4516	6	0	1	0
chr17	40181645	40181645	C	T	exonic	RAPGEFL1	.	nonsynonymous SNV	RAPGEFL1:NM_001303533:exon2:c.C97T:p.H33Y,RAPGEFL1:NM_001303534:exon2:c.C79T:p.H27Y,RAPGEFL1:NM_016339:exon2:c.C550T:p.H184Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.22295614665	.	.	0.0002	0	0	0	.	0	0	0.0003	1.29e-05	2	154602	rs753663656	1.635e-05	1.431e-05	7.921e-06	2.349e-05	0.0002	7.69e-06	5.57e-06	5.222e-05	3.668e-05	0	0	0	0	0	0.0002	0	3.267e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.91255	T	0.524	0.92824	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.81001	D	.	.	.	2.19	0.18724	T	-1.33	0.79316	N	0.756	0.75834	-1.1669	0.00601	T	0.090	0.34601	T	6	0.3291329	0.50172	T	0.222956	0.87879	D	0.199	0.48268	0.64	0.77687	0.236619781664	0.23270	0.7618322724908742	0.76131	.	.	.	.	.	0.098165	0.43279	T	-0.0978072	0.36788	T	-0.10897	0.62693	T	0.154961146676096	0.17492	T	0.789321	0.42944	T	.	.	.	.	.	.	.	.	-6.023	0.46472	T	.	.	0.454	0.74986	A	.;.;.;.	.;.;.;.	4.252225	0.64550	24.7	0.99807894555926624	0.89174	0.92648	0.56208	D	AEFBCI	0.643085	0.61982	D	0.385541508925727	0.60636	4.254935	0.485703618767507	0.67044	5.031382	0.999999999999836	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.71	5.71	0.89031	4.796000	0.62190	7.622000	0.62351	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.615	0.91254	219	0.91485	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	973.44	33	chr17	40181645	.	C	T	973.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.165;DP=319;ExcessHet=0;FS=1.423;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=-0.132;SOR=0.565	GT:AD:DP:GQ:PL	0/1:88,47:135:99:984,0,2161	6	0	1	0
chr17	40822488	40822488	G	A	exonic	KRT10	.	nonsynonymous SNV	KRT10:NM_000421:exon1:c.C98T:p.S33F,KRT10:NM_001379366:exon1:c.C98T:p.S33F	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis with confetti, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant	13	1505	4	0	0	4	0.00132714	.	.	.	1018282	Epidermolytic_ichthyosis|not_provided	Human_Phenotype_Ontology:HP:0007475,MONDO:MONDO:0007239,MedGen:C0079153,OMIM:PS113800,Orphanet:312|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.301	0.0435194057321	0.0003	.	0.0003	9.843e-05	0	0	0	0.0004	0.0022	0.0005	0.0002781	43	154602	rs151149062	0.0003	0.0003	0.0002	0.0003	0.0014	0.0003	0.0002	0.0007	0.0005	0.0001	0.0002	0	0	0	0.0014	0.0003	0.0004	0.0006	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0002	0.0002	9.651e-05	0	0.0005	0	0	0	0.0034	0.0002	0.0005	0.0006	0.001	0.78490	D	0.007	0.69154	D	0.895	0.49247	P	0.548	0.49136	P	0.245577	0.15618	N	0.478549	1	0.81001	D	2.62	0.76659	M	-1.78	0.83737	D	-1.42	0.34992	N	0.36	0.40164	-0.1874	0.77994	T	0.382	0.73877	T	10	0.19313803	0.35071	T	0.043519	0.61023	D	0.301	0.62179	.	.	0.82433787705	0.82267	0.4709612124217044	0.47015	0.458546215499	0.45466	0.483283698559	0.36508	T	0.310672	0.68262	T	-0.191809	0.21993	T	-0.183296	0.56215	T	0.0579886796468066	0.06849	T	0.284672	0.05031	T	0.12355734	0.29010	0.15657903	0.36652	0.12355734	0.29009	0.15657903	0.36651	-6.791	0.52492	T	.	.	0.279	0.51218	B	.	.	2.396345	0.30777	18.54	0.98895593161840001	0.48091	0.86196	0.45431	D	AEFDGBHCI	0.512558	0.54072	D	-0.215759605925253	0.32486	1.832647	-0.202848009238554	0.31433	1.778914	0.999999999995613	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.425852	0.06454	2	0.564101	0.26826	0	.	.	5.52	4.54	0.55220	0.016000	0.13272	4.595000	0.43974	-0.260000	0.06918	0.000000	0.06391	0.993000	0.31925	0.385000	0.26447	0.0:0.1526:0.8474:0.0	15.249	0.73224	79	0.96716	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.010101	0.002717	0.005848	0.050000	0.017241	0.000000	0.000000	0.07143	1697.44	41	chr17	40822488	.	G	A	1697.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.13;DP=339;ExcessHet=0;FS=1.459;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=2.22;SOR=0.882	GT:AD:DP:GQ:PL	0/1:56,67:123:99:1708,0,1456	6	0	1	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	701.36	35	chr17	41041286	.	G	*	701.36	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.49;DP=1001;ExcessHet=2.5225;FS=0.647;MLEAC=1;MLEAF=0.071;MQ=59.31;MQRankSum=-9.31;QD=0.77;ReadPosRankSum=4.01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,102:250:99:.:.:3348,0,4952:.	6	0	1	0
chr17	41041297	41041297	G	0	exonic	KRTAP1-1	.	.	.	.	0	91	122	0	13	135	0.401316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	687.36	35	chr17	41041297	.	G	*	687.36	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.76;DP=1037;ExcessHet=2.5225;FS=0.657;MLEAC=1;MLEAF=0.071;MQ=59.34;MQRankSum=-9.517;QD=0.72;ReadPosRankSum=3.12;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,102:254:99:.:.:3298,0,5776:.	6	0	1	0
chr17	41041341	41041341	G	0	exonic	KRTAP1-1;KRTAP9-7	.	.	.	.	423	805	280	0	14	294	0.148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	45.68	35	chr17	41041341	.	G	*	45.68	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.76;DP=1009;ExcessHet=0.3476;FS=1.3;MLEAC=1;MLEAF=0.071;MQ=59.38;MQRankSum=-9.639;QD=0.09;ReadPosRankSum=-0.464;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,101:267:99:0|1:41041341_G_*:3313,0,5622:41041341	6	0	1	0
chr17	42040831	42040831	C	T	exonic	C17orf113	.	nonsynonymous SNV	C17orf113:NM_001358661:exon3:c.G902A:p.R301Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs555239497	0.0002	0.0001	0.0001	0.0002	0.0048	0.0001	0.0001	0.0037	0.0034	0	0	0	0	0	0.0048	5.869e-05	0.0005	0.0045	0.0002	0.0002	6.423e-05	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	7.213e-05	0	0	0	0	0	0	0.0001	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999778	0.20412	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05076769	0.04857	T	.	.	.	.	.	.	.	.	.	0.44260831875692286	0.44177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.571043	0.20346	T	0.12093387	0.28447	0.22370467	0.47258	0.12093387	0.28447	0.22370467	0.47257	-4.513	0.31058	T	.	.	0.079	0.07177	B	.	.	2.582554	0.33487	19.35	0.83043548421707447	0.14512	0.07628	0.13636	N	AEFDBI	.	.	.	.	.	.	.	.	.	3.66517558978372E-5	0.03775	0.158359	0.03455	1	0.097471	0.02872	0	0.175771	0.04330	1	0.079188	0.02158	0	0.236872	0.32007	5.15	2.08	0.26079	1.081000	0.30402	0.049000	0.13974	0.599000	0.40250	0.001000	0.13787	0.005000	0.19230	0.986000	0.61781	0.0:0.7637:0.0:0.2363	9.114	0.35907	489	0.76795	.	.	.	.	.	.	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	38.95	.	chr17	42040831	.	C	T	38.95	.	AC=2;AF=0.333;AN=6;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=19.48;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	1	0	4
chr17	42577674	42577674	G	A	exonic	PSMC3IP	.	nonsynonymous SNV	PSMC3IP:NM_013290:exon1:c.C13T:p.R5W,PSMC3IP:NM_016556:exon1:c.C13T:p.R5W	Ovarian dysgenesis 3, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	2114019	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.257	0.0326521873956	0.0003	0.000199681	0.0002	0.0002	8.693e-05	0	0	0.0001	0.0011	0.0010	0.0002393	37	154602	rs151097093	0.0002	0.0002	0.0002	0.0003	0.0049	0.0002	0.0002	0.0035	0.0030	0.0001	2.236e-05	0.0003	2.519e-05	0	0.0049	0.0001	0.0003	0.0010	0.0002	0.0002	0.0001	0.0003	0.0014	0.0001	0.0001	0.0007	0.0005	7.215e-05	0	0.0003	0	0	0	0.0068	0.0002	0	0.0014	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.99	0.84481	D	0.002248	0.36929	N	0.274679	0.897353	0.81001	D	2.08	0.57402	M	0.68	0.51952	T	-2.16	0.48850	N	0.568	0.59138	-0.8311	0.53231	T	0.167	0.50518	T	10	0.31729007	0.49140	T	0.032652	0.54416	D	0.257	0.56827	.	.	0.553793491129	0.55037	0.2110262028909092	0.21018	0.657221365818	0.58688	0.727300524712	0.71112	T	0.174613	0.52390	T	-0.179836	0.23760	T	-0.109085	0.62684	T	0.127173845770672	0.15118	T	0.90141	0.65732	D	0.15966778	0.35854	0.34705496	0.60365	0.15966778	0.35853	0.34705496	0.60365	-11.455	0.82095	D	.	.	0.758	0.75408	P	.;.	.;.	4.558608	0.71814	25.7	0.99887514145259004	0.96204	0.86346	0.45608	D	ALL	0.227779	0.35154	N	0.176005562787415	0.50050	3.198712	0.121768104148344	0.45664	2.825609	0.999999999999989	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	5.02	2.99	0.33673	2.200000	0.42358	2.672000	0.33955	0.676000	0.76740	0.854000	0.30511	1.000000	0.68203	0.177000	0.21203	0.0:0.0:0.6762:0.3238	11.535	0.49883	206	0.91974	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1579.49	34	chr17	42577674	.	G	A	1579.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.956;DP=301;ExcessHet=0;FS=1.431;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.054;SOR=0.728	GT:AD:DP:GQ:PL	0/1:58,65:123:99:1590,0,1252	6	0	1	0
chr17	42663403	42663403	A	T	exonic	TUBG2	.	nonsynonymous SNV	TUBG2:NM_016437:exon6:c.A506T:p.Y169F,TUBG2:NM_001320509:exon7:c.A533T:p.Y178F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.489	0.0137106762245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.28772	T	0.478	0.11968	T	0.671	0.41189	P	0.254	0.39164	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-0.25	0.67011	T	-3.6	0.69357	D	0.601	0.61933	-0.7354	0.58689	T	0.175	0.51959	T	10	0.5852144	0.66072	D	0.013711	0.33318	T	0.489	0.77656	0.761	0.88972	0.555277862696	0.55187	0.8282417366288006	0.82782	1.27300519965	0.82327	0.852253556252	0.89953	D	0.532741	0.83859	D	0.0278228	0.55431	T	-0.197811	0.54853	T	0.936225771903992	0.60506	D	0.995811	0.98540	D	0.3641022	0.58146	0.21545279	0.46134	0.3641022	0.58147	0.21545279	0.46133	-7.917	0.60503	D	.	.	0.106	0.19679	B	.	.	2.921159	0.38776	20.8	0.98234468097585936	0.39423	0.98119	0.79760	D	AEFBCI	0.930067	0.91681	D	0.178171236370459	0.50152	3.207999	0.269958392166742	0.53793	3.546589	0.999999906500955	0.74766	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	9.217000	0.94299	10.989000	0.84666	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	1.0:0.0:0.0:0.0	15.707	0.77348	447	0.79583	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase 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	2817.44	36	chr17	42663403	.	A	T	2817.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.61;DP=454;ExcessHet=0;FS=0.448;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.912;SOR=0.661	GT:AD:DP:GQ:PL	0/1:143,121:264:99:2828,0,3363	6	0	1	0
chr17	45999344	45999344	C	T	exonic	STH	.	nonsynonymous SNV	STH:NM_001007532:exon1:c.C65T:p.P22L	.	422	1099	1	0	0	1	0.000454752	.	.	.	2206642	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.0138807730371	.	0.000199681	9.12e-05	0.0001	0.0004	0	0	3e-05	0.0011	0.0001	9.06e-05	14	154602	rs543012879	7.731e-05	7.798e-05	9.121e-05	6.326e-05	0.0014	6.533e-05	6.136e-05	0.0007	0.0005	2.987e-05	0.0002	0	0	0	0.0014	6.835e-05	9.939e-05	0.0002	3.94e-05	3.937e-05	0	8.056e-05	0.0004	1.714e-05	1.129e-05	7.304e-05	3.034e-05	2.406e-05	0	0	0	0	0	0	4.409e-05	0	0.0004	.	.	.	1.0	0.01155	T	0.753	0.43334	P	0.062	0.26930	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.41	0.57100	T	-1.5	0.36586	N	0.131	0.12627	-1.0415	0.16860	T	0.050	0.21222	T	9	0.030716151	0.01200	T	0.013881	0.33612	T	0.051	0.14325	0.424	0.46857	0.191931220699	0.18833	0.007746496077334604	0.00739	0.0482597074277	0.05275	0.268777608871	0.05982	T	0.001736	0.01158	T	-0.389282	0.02719	T	-0.527653	0.19521	T	0.0295301907056	0.01918	T	0.454355	0.12956	T	0.11448484	0.27028	0.06275866	0.12329	0.11448484	0.27027	0.06275866	0.12329	-2.803	0.08211	T	.	.	0.120	0.24800	B	.	.	0.786960	0.11572	8.165	0.82788198299631677	0.14375	0.00494	0.02336	N	AEFGBI	0.038838	0.05555	N	-1.11017974079305	0.06461	0.2975005	-1.24911471704552	0.05144	0.2444139	0.0599627944322596	0.15180	0.616025	0.39624	0	0.573888	0.26702	0	0.574621	0.27300	0	0.542086	0.14980	0	.	.	1.78	-0.58	0.11129	-0.055000	0.11763	-2.513000	0.03663	-1.098000	0.01516	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4675:0.3282:0.2043:0.0	2.536	0.04428	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	0.001027	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	1043.63	35	chr17	45999344	.	C	T	1043.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.95;DP=303;ExcessHet=0;FS=1.704;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.224;SOR=0.523	GT:AD:DP:GQ:PL	0/1:51,41:92:99:1054,0,1248	6	0	1	0
chr17	46872579	46872579	A	G	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon2:c.A140G:p.Q47R,WNT9B:NM_003396:exon2:c.A140G:p.Q47R	.	420	1079	20	3	0	26	0.0119048	.	.	.	1630578	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0044	0.00339457	0.0075	0.0009	0.0017	0	0.0259	0.0068	0.0136	0.0167	0.0064035	990	154602	rs118185468	0.0065	0.0065	0.0063	0.0067	0.0128	0.0064	0.0063	0.0122	0.0119	0.0005	0.0018	0.0017	2.538e-05	0.0230	0.0079	0.0059	0.0059	0.0128	0.0054	0.0054	0.0048	0.0061	0.0128	0.0051	0.0050	0.0103	0.0093	0.0010	0	0.0011	0.0035	0	0.0231	0	0.0065	0.0038	0.0128	0.134	0.29688	T	0.476	0.30143	T	0.072	0.23997	B	0.023	0.19966	B	0.082512	0.20804	N	0.507715	0.858057	0.28398	N	1.895	0.50365	L	-1.39	0.80387	T	-0.69	0.19720	N	0.141	0.14763	-0.7710	0.56803	T	0.247	0.61635	T	10	0.005423963	0.00119	T	.	.	.	0.128	0.35103	.	.	0.900307032389	0.89931	0.5040463843694573	0.50326	0.299722776496	0.32340	0.550557017326	0.45935	T	0.268256	0.64036	T	-0.399512	0.02332	T	-0.334971	0.40912	T	0.00942075269797112	0.00121	T	.	.	.	0.06629579	0.14250	0.096777566	0.23008	0.06629579	0.14250	0.096777566	0.23008	-3.213	0.12640	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	1.602473	0.20483	14.77	0.91943365196778426	0.21270	0.78732	0.38889	D	AEFDBI	0.143800	0.26660	N	-0.470793134273499	0.23042	1.234558	-0.423063799552568	0.24321	1.331227	0.581956077750406	0.21578	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	1.500000	0.35290	5.610000	0.49052	0.751000	0.87719	0.054000	0.21560	1.000000	0.68203	0.025000	0.12405	0.8506:0.1494:0.0:0.0	11.516	0.49771	444	0.79803	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004040	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.026718	0.07143	850.46	34	chr17	46872579	.	A	G	850.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.416;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.623;SOR=0.728	GT:AD:DP:GQ:PL	0/1:36,39:75:99:861,0,816	6	0	1	0
chr17	47379200	47379200	-	A	exonic	EFCAB13	.	frameshift insertion	EFCAB13:NM_001195192:exon12:c.1242dupA:p.D415Rfs*2,EFCAB13:NM_152347:exon14:c.1530dupA:p.D511Rfs*2	.	434	1087	0	1	0	2	0.000919118	.	.	.	3208008	EFCAB13-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0015	0	8.711e-05	0	0	0	0.0022	0.0107	0.0012548	194	154602	rs368918546	0.0007	0.0007	0.0004	0.0010	0.0107	0.0006	0.0006	0.0101	0.0099	2.99e-05	0	0	0	0	0.0005	2.699e-06	0.0008	0.0107	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	2.405e-05	0	0	0	0	0	0	0	0.0005	0.0114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1040.5	37	chr17	47379200	.	T	TA	1040.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.636;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.34;ReadPosRankSum=-0.959;SOR=0.681	GT:AD:DP:GQ:PL	0/1:27,33:60:99:1051,0,831	6	0	1	0
chr17	49164259	49164259	C	G	exonic	B4GALNT2	.	nonsynonymous SNV	B4GALNT2:NM_001159387:exon8:c.C938G:p.T313S,B4GALNT2:NM_001159388:exon8:c.C860G:p.T287S,B4GALNT2:NM_153446:exon8:c.C1118G:p.T373S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00905834524961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.005e-07	0	0	.	.	0	0	0	0	0	0	9.005e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.012	0.63918	D	0.051	0.22415	B	0.01	0.16012	B	0.043651	0.23718	N	0.430418	0.982859	0.24931	N	1.38	0.34346	L	0.09	0.61443	T	-1.57	0.37955	N	0.142	0.15046	-1.0444	0.16000	T	0.101	0.37417	T	10	0.19429311	0.35235	T	0.009058	0.23845	T	0.083	0.24192	0.431	0.48007	0.665839689757	0.66302	0.3177624200753259	0.31689	0.150928291755	0.17036	0.33778861165	0.16107	T	0.084236	0.37232	T	-0.177148	0.24162	T	-0.492237	0.23157	T	0.478669852018356	0.31849	T	0.0768923	0.00566	T	0.11201301	0.26467	0.084298044	0.19382	0.11201301	0.26466	0.084298044	0.19382	-5.455	0.43057	T	.	.	0.088	0.22282	B	.;.;.	.;.;.	0.671834	0.10401	7.126	0.95604260365254978	0.27347	0.70222	0.34502	D	AEFDBI	0.244549	0.36564	N	-0.623753760089655	0.18233	0.9449351	-0.58521827536174	0.19878	1.068504	6.53160012114403E-5	0.04366	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.58	-3.95	0.03844	0.724000	0.25624	-1.964000	0.04424	0.599000	0.40250	0.774000	0.29403	0.000000	0.08366	0.908000	0.44358	0.1123:0.2821:0.2232:0.3824	1.752	0.02793	453	0.79178	.;.;Glycosyltransferase 2-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	.	.	.	.	.	.	.	.	0.07143	995.83	58	chr17	49164259	.	C	G	995.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.506;DP=291;ExcessHet=0;FS=3.139;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.945;SOR=1.097	GT:AD:DP:GQ:PL	0/1:40,38:78:99:1006,0,1006	6	0	1	0
chr17	56499059	56499059	C	T	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_001365758:exon20:c.C2401T:p.P801S,ANKFN1:NM_001370326:exon20:c.C2605T:p.P869S	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00379393	0.0004	0.0095	0	0	0	0	0	0	0.0002393	37	154602	rs112806328	0.0003	0.0003	0.0003	0.0003	0.0096	0.0003	0.0003	0.0087	0.0084	0.0096	0.0003	0	0	0	0.0004	5.563e-06	0.0015	8.836e-05	0.0025	0.0025	0.0025	0.0024	0.0084	0.0023	0.0022	0.0077	0.0074	0.0084	0	0.0014	0	0	0	0	0	0.0019	0.0002	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.980205	0.25129	N	.	.	.	1.77	0.25841	T	.	.	.	0.138	0.13626	.	.	.	.	.	.	.	0.0051231086	0.00111	T	.	.	.	.	.	.	.	0.692761960973	0.69012	.	.	.	.	.	.	.	0.003203	0.02606	T	-0.651391	0.00071	T	-0.701347	0.05753	T	.	.	.	0.829317	0.49436	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00496	B	.	.	1.163503	0.15528	11.91	0.28455511415991608	0.01462	0.45134	0.27471	N	AEFI	0.043069	0.06762	N	.	.	.	.	.	.	3.73683285602551E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.58	2.17	0.26736	3.108000	0.50029	2.854000	0.35159	-0.181000	0.10308	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0:0.265:0.1688:0.5662	4.355	0.10610	62	0.97349	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	669.83	36	chr17	56499059	.	C	T	669.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.929;DP=207;ExcessHet=0;FS=1.754;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=0.691;SOR=1.244	GT:AD:DP:GQ:PL	0/1:16,24:40:99:680,0,453	6	0	1	0
chr17	59697918	59697918	C	T	exonic	PTRH2	.	nonsynonymous SNV	PTRH2:NM_016077:exon2:c.G61A:p.V21I,PTRH2:NM_001015509:exon3:c.G64A:p.V22I	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, Autosomal recessive	431	1080	11	0	0	11	0.00506679	.	.	.	506067	not_provided|PTRH2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00244028910284	0.0044	0.00219649	0.0042	0.0013	0.0025	0	0.0030	0.0063	0.0044	0.0014	0.0042626	659	154602	rs76310651	0.0051	0.0051	0.0053	0.0049	0.0160	0.0050	0.0050	0.0133	0.0123	0.0013	0.0030	0.0079	0	0.0040	0.0160	0.0057	0.0051	0.0015	0.0037	0.0037	0.0040	0.0033	0.0058	0.0034	0.0033	0.0054	0.0052	0.0011	0	0.0025	0.0066	0	0.0033	0.0170	0.0058	0.0057	0.0004	0.488	0.16793	T	0.288	0.21745	T	0.004	0.12183	B	0.003	0.08700	B	0.001459	0.38980	N	0.208574	0.999993	0.08975	N	0.895	0.22405	L	.	.	.	-0.37	0.13226	N	0.085	0.06190	-1.0746	0.08431	T	0.062	0.25744	T	9	0.007870734	0.00179	T	0.00244	0.04813	T	0.070	0.20419	.	.	0.372268306217	0.36840	0.1265693023315766	0.12582	0.0581026810352	0.06437	0.262676328421	0.05213	T	0.067176	0.33134	T	-0.536542	0.00351	T	-0.538355	0.18459	T	0.00313176158227098	0.00033	T	0.675332	0.28377	T	0.036266107	0.04428	0.044291425	0.05704	0.05368025	0.10194	0.058567204	0.10842	-4.129	0.25716	T	0.0901838421480545	0.05590	0.087	0.11558	B	.;.;.	.;.;.	1.796192	0.22833	15.78	0.87380798241664726	0.17186	0.97270	0.73702	D	AEFDBCI	0.312492	0.41791	N	-0.722503969275306	0.15390	0.7751858	-0.524870272630976	0.21479	1.162126	0.999999993744599	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.58	4.61	0.56724	3.747000	0.54853	5.989000	0.52298	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.654000	0.32802	0.0:0.8705:0.0:0.1295	15.415	0.74686	547	0.72440	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.020141	0.015152	0.031250	0.023392	0.100000	0.008621	0.009146	0.000000	0.07143	1892.45	34	chr17	59697918	.	C	T	1892.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.387;DP=356;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.394;SOR=0.703	GT:AD:DP:GQ:PL	0/1:95,80:175:99:1903,0,2539	6	0	1	0
chr17	68539946	68539946	A	G	exonic	FAM20A	.	nonsynonymous SNV	FAM20A:NM_017565:exon9:c.T1240C:p.Y414H,FAM20A:NM_001243746:exon10:c.T826C:p.Y276H	Amelogenesis imperfecta, type IG (enamel-renal syndrome), Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	727380	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.779	0.228014372048	.	0.000599042	0.0012	0.0002	0.0003	0	0	0.0002	0	0.0077	0.0010414	161	154602	rs372864017	0.0005	0.0005	0.0003	0.0008	0.0076	0.0005	0.0005	0.0071	0.0069	5.974e-05	0.0004	0.0003	0	7.488e-05	0.0009	6.475e-05	0.0005	0.0076	0.0002	0.0002	0.0001	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	0	0	6.536e-05	0.0006	0	0	0.0034	0.0001	0	0.0039	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.47	0.92451	M	-1.77	0.83660	D	.	.	.	0.934	0.94550	0.336	0.88119	D	0.572	0.84531	D	9	0.06350544	0.08284	T	0.228014	0.88117	D	.	.	.	.	0.894701625459	0.89365	0.8684829164671358	0.86813	0.7602088764	0.64219	0.817299485207	0.84613	D	0.809263	0.95216	D	0.122547	0.66627	D	0.407819	0.92363	D	0.167178443151276	0.18386	T	0.995767	0.98511	D	0.90692586	0.92010	0.7969727	0.88080	0.9213564	0.93380	0.8344416	0.90475	-11.02	0.79768	D	.	.	0.836	0.80654	P	.;.	.;.	5.145366	0.86163	28.8	0.99863448430303225	0.94184	0.97724	0.76675	D	AEFDBCI	0.938424	0.93761	D	0.929231934787819	0.93117	11.83158	0.87597330785434	0.94437	12.76096	0.999999999789152	0.74766	0.631515	0.41029	0	0.150725	0.03546	3	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.67	5.67	0.87673	8.895000	0.92155	11.237000	0.90306	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	1.0:0.0:0.0:0.0	15.906	0.79216	942	0.12992	FAM20, C-terminal;FAM20, 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	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.011364	0.07143	1716.83	34	chr17	68539946	.	A	G	1716.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.084;DP=326;ExcessHet=0;FS=1.308;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.051;SOR=0.835	GT:AD:DP:GQ:PL	0/1:72,73:145:99:1727,0,1696	6	0	1	0
chr17	69096328	69096328	G	C	exonic	ABCA6	.	nonsynonymous SNV	ABCA6:NM_080284:exon25:c.C3320G:p.A1107G	.	479	1041	2	0	0	2	0.000959693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0113502815154	.	.	0.0005	0	0	0	0	0	0	0.0037	0.0003622	56	154602	rs758758118	0.0002	0.0002	7.627e-05	0.0002	0.0030	0.0001	0.0001	0.0027	0.0026	0	0	0	0	0	0	9.461e-07	7.193e-05	0.0030	5.913e-05	5.906e-05	2.571e-05	9.405e-05	0.0019	3.077e-05	2.21e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.306	0.14207	T	0.311	0.19660	T	0.004	0.12183	B	0.033	0.22329	B	0.092607	0.20265	N	0.408600	0.99999	0.08975	N	1.965	0.53209	M	-2.21	0.86963	D	-1.96	0.45404	N	0.325	0.36569	-0.5869	0.65344	T	0.492	0.80698	T	10	0.0155830085	0.00327	T	0.01135	0.28886	T	0.170	0.43303	0.459	0.52590	0.705352534885	0.70279	0.25671374423327603	0.25585	0.0369952036402	0.03923	0.273047268391	0.06542	T	0.42659	0.77634	T	-0.348575	0.04818	T	-0.277158	0.47095	T	0.0423941079241193	0.04127	T	0.212579	0.02598	T	0.09575146	0.22540	0.09586815	0.22755	0.09575146	0.22540	0.09586815	0.22755	-7.321	0.56345	T	.	.	0.18	0.39185	B	.	.	1.548917	0.19855	14.47	0.92635218981719791	0.22108	0.25025	0.22574	N	AEFBI	0.156412	0.28176	N	-0.658761191717843	0.17206	0.8833703	-0.676598947001245	0.17546	0.9334764	0.0299505299908294	0.13914	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	4.61	1.57	0.22490	1.115000	0.30823	1.682000	0.28018	0.671000	0.69459	0.021000	0.19753	0.003000	0.18671	0.985000	0.61073	0.3031:0.0:0.6969:0.0	6.446	0.21079	916	0.20744	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.07143	145.83	15	chr17	69096328	.	G	C	145.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=116;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-1.963;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,8:14:99:156,0,106	6	0	1	0
chr17	74854900	74854900	G	A	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon2:c.C193T:p.L65F,GRIN2C:NM_001278553:exon2:c.C193T:p.L65F	.	430	1048	39	5	0	49	0.0228438	.	.	.	729756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.029	0.0106221511673	0.0049	0.00259585	0.0050	0.0008	0.0026	0	0.0032	0.0068	0.0035	0.0051	0.0048512	750	154602	rs78349823	0.0063	0.0063	0.0061	0.0065	0.0197	0.0062	0.0061	0.0167	0.0156	0.0010	0.0029	0.0036	0	0.0038	0.0197	0.0070	0.0059	0.0055	0.0045	0.0045	0.0049	0.0040	0.0069	0.0042	0.0041	0.0064	0.0061	0.0012	0.0022	0.0051	0.0055	0	0.0030	0.0272	0.0069	0.0076	0.0027	0.008	0.58626	D	0.017	0.60337	D	0.93	0.51791	P	0.573	0.49966	P	0.020133	0.27106	N	0.344090	0.837722	0.28673	N	1.79	0.46772	L	2.77	0.11407	T	-1.76	0.41618	N	0.14	0.14905	-1.1322	0.01680	T	0.027	0.11397	T	10	0.009157836	0.00207	T	0.010622	0.27366	T	0.029	0.06676	.	.	0.726739929651	0.72432	0.49833384254028434	0.49754	1.19053074043	0.80270	0.541441082954	0.44649	T	0.235419	0.60267	T	-0.598941	0.00148	T	-0.629108	0.10482	T	0.0149162963541447	0.00317	T	0.789321	0.42944	T	0.114562035	0.27043	0.15262114	0.35901	0.114562035	0.27043	0.15262114	0.35900	-8.72	0.65877	D	.	.	0.100	0.28086	B	.;.	.;.	4.403692	0.68060	25.2	0.97318716847729081	0.33365	0.91189	0.53035	D	AEFBI	0.310797	0.41671	N	0.315904096523676	0.56964	3.862214	0.307413121967798	0.55973	3.760336	0.100368974678565	0.16352	0.580535	0.33130	0	0.626922	0.53725	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	4.4	3.36	0.37579	2.755000	0.47219	5.486000	0.48735	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.903000	0.43903	0.0:0.3511:0.3869:0.262	6.989	0.23927	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012097	0.005051	0.009511	0.023392	0.000000	0.025862	0.012195	0.011364	0.07143	871.63	30	chr17	74854900	.	G	A	871.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.028;DP=269;ExcessHet=0;FS=0.83;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-1.75;SOR=0.591	GT:AD:DP:GQ:PL	0/1:44,37:81:99:882,0,1081	6	0	1	0
chr17	75588613	75588613	C	T	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon1:c.C556T:p.P186S	.	957	563	2	0	0	2	0.00177305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878971662	9.698e-05	5.725e-05	6.555e-05	0.0001	0.0010	6.652e-05	5.603e-05	0.0003	0.0001	0	0.0001	0.0008	0	0	0.0008	6.333e-05	0.0001	0.0010	3.941e-05	3.94e-05	3.853e-05	4.033e-05	0.0002	1.715e-05	1.129e-05	.	.	0	0	0	0.0012	0	0	0	1.47e-05	0	0.0002	.	.	.	0.598	0.07999	T	.	.	.	.	.	.	.	.	.	.	0.999848	0.20103	N	.	.	.	.	.	.	.	.	.	0.052	0.02366	.	.	.	.	.	.	.	0.059487253	0.07159	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015798	0.13179	T	.	.	.	.	.	.	.	.	.	0.49565	0.15376	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24396	B	.;.	.;.	0.912622	0.12870	9.383	0.89608894600112754	0.18944	0.03585	0.08804	N	AEFDGBCIJ	.	.	.	.	.	.	.	.	.	0.999984324890366	0.51787	0.199473	0.04044	0	0.102296	0.03086	2	0.215285	0.04585	0	0.127398	0.03941	1	0.0804662	0.18502	2.63	-0.648	0.10889	0.096000	0.14986	0.669000	0.20577	0.450000	0.21304	0.000000	0.06391	0.032000	0.21310	0.015000	0.10482	0.2318:0.3923:0.2273:0.1485	1.051	0.01482	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	365.45	27	chr17	75588613	.	C	T	365.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.499;DP=184;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-1.734;SOR=0.61	GT:AD:DP:GQ:PL	0/1:21,16:37:99:376,0,479	6	0	1	0
chr17	81528871	81528871	A	G	exonic	FSCN2	.	nonsynonymous SNV	FSCN2:NM_001077182:exon1:c.A340G:p.T114A,FSCN2:NM_012418:exon1:c.A340G:p.T114A	Retinitis pigmentosa 30	0	1516	6	0	0	6	0.00197498	.	.	.	741204	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00514806509797	0.0008	0.000199681	0.0016	0.0008	0.0021	0	0.005	0.0029	0	0.0004	0.0005304	82	154602	rs202158770	0.0009	0.0009	0.0009	0.0009	0.0032	0.0009	0.0009	0.0020	0.0017	0.0002	0.0008	0	0	0.0001	0.0032	0.0011	0.0008	0.0003	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0008	0.0001	0	0.0006	0	0	9.409e-05	0	0.0010	0.0014	0.0004	0.006	0.61437	D	0.193	0.28210	T	0.0	0.02946	B	0.0	0.01387	B	0.015295	0.28288	N	0.362200	0.851906	0.28484	N	1.1	0.28011	L	1.96	0.22270	T	-2.19	0.49352	N	0.065	0.13055	-1.0587	0.12083	T	0.040	0.17234	T	10	0.012120903	0.00262	T	0.005148	0.13094	T	0.012	0.01476	.	.	0.373897652646	0.36997	0.23596444462120333	0.23511	0.0716247494245	0.08021	0.516877174377	0.41187	T	0.25221	0.62256	T	-0.604322	0.00137	T	-0.686395	0.06600	T	0.0106476187211481	0.00149	T	0.779122	0.41282	T	0.11139031	0.26323	0.09344192	0.22070	0.11139031	0.26323	0.09344192	0.22069	-7.97	0.61071	D	0.12783891521311308	0.13153	0.068	0.02829	B	.;.	.;.	1.866161	0.23708	16.12	0.86445948207584411	0.16541	0.51350	0.28875	D	AEFDBCI	0.101337	0.20356	N	-0.654054616540187	0.17343	0.8915816	-0.682873457787928	0.17389	0.9244013	0.999979095664184	0.50053	0.660377	0.49826	0	0.694456	0.67091	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	4.32	0.445	0.15808	0.894000	0.27983	3.603000	0.39228	0.686000	0.82685	0.483000	0.26824	1.000000	0.68203	0.304000	0.24594	0.4601:0.0:0.2214:0.3185	3.101	0.05946	.	.	Fascin domain|Fascin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001526	0.005208	0.000000	0.002976	0.000000	0.000000	0.006211	0.000000	0.07143	765.49	33	chr17	81528871	.	A	G	765.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.025;DP=288;ExcessHet=0;FS=4.068;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-0.81;SOR=1.216	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,35:95:99:1|0:81528864_C_T:776,0,2326:81528864	6	0	1	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L,CSNK1D:NM_001893:exon4:c.C402G:p.F134L,CSNK1D:NM_139062:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.294920260008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.976	0.74843	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.075	0.57047	M	0.05	0.61923	T	-5.77	0.87911	D	0.856	0.86191	-0.2906	0.75249	T	0.378	0.73572	T	10	0.8558959	0.84786	D	0.29492	0.90689	D	0.585	0.83360	0.713	0.84872	0.794112205518	0.79219	0.8391474319513283	0.83874	2.45932965126	0.97411	0.943554639816	0.99578	D	0.463857	0.79964	T	0.245163	0.78146	D	0.114383	0.77862	D	0.996541440486908	0.89565	D	0.972453	0.90829	D	0.9611103	0.97392	0.90685	0.95464	0.9611103	0.97392	0.90685	0.95465	-13.686	0.91992	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.476840	0.48528	22.6	0.94285568772606809	0.24584	0.90166	0.51131	D	AEFDGBHCI	0.511037	0.53983	D	-0.0133870369408241	0.41248	2.46393	-0.161674069915806	0.32961	1.880536	0.999992497670314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	-2.31	0.06380	1.140000	0.31128	1.624000	0.27703	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.285:0.0:0.715:0.0	14.272	0.65705	.	.	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	201.86	94	chr17	82253179	.	G	C	201.86	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-2.126;DP=828;ExcessHet=0;FS=298.361;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=1.27;SOR=8.468	GT:AD:DP:GQ:PL	0/1:132,37:177:99:207,0,2213	1	0	1	5
chr17	82941437	82941437	G	A	exonic	TBCD	.	nonsynonymous SNV	TBCD:NM_005993:exon38:c.G3518A:p.R1173H	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, Autosomal recessive	430	1086	6	0	0	6	0.00275482	.	.	.	727614	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00692511172022	0.0022	0.00159744	0.0046	0.0009	0.0009	0	0.0055	0.0060	0	0.0054	0.0030336	469	154602	rs188081246	0.0038	0.0039	0.0038	0.0039	0.0043	0.0037	0.0037	0.0042	0.0042	0.0006	0.0006	0	0.0001	0.0035	0.0024	0.0043	0.0028	0.0041	0.0025	0.0025	0.0025	0.0025	0.0058	0.0023	0.0022	0.0041	0.0036	0.0010	0	0.0007	0.0003	0	0.0017	0	0.0041	0.0005	0.0058	0.61	0.05468	T	0.316	0.20037	T	0.021	0.18474	B	0.003	0.08700	B	0.003407	0.34985	N	0.250761	0.56329	0.31239	N	1.905	0.50856	L	2.26	0.22678	T	-0.89	0.24026	N	0.078	0.14196	-1.0286	0.20908	T	0.024	0.10058	T	9	0.00836581	0.00190	T	0.006925	0.18317	T	0.031	0.07369	.	.	0.333906830038	0.33007	0.15779743651091782	0.15700	0.360914283252	0.37751	0.278453350067	0.07278	T	0.026801	0.19761	T	-0.568064	0.00227	T	-0.584616	0.14135	T	0.00520182746446725	0.00056	T	0.872413	0.57909	D	0.019906789	0.00533	0.023560254	0.00369	0.02408161	0.01205	0.026416073	0.00730	-5.708	0.43765	T	0.1685342875303827	0.21079	0.066	0.10642	B	.;.;.	.;.;.	1.079337	0.14625	11.18	0.95133648036115215	0.26247	0.26430	0.22990	N	AEFDBI	0.112383	0.22215	N	-0.746140124865356	0.14738	0.7367289	-0.73863587020575	0.16002	0.8444263	0.021787181436635	0.13378	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.96	-2.5	0.06015	-0.107000	0.10843	0.218000	0.16040	0.676000	0.76740	0.846000	0.30379	0.004000	0.18990	0.202000	0.21954	0.4168:0.0:0.4492:0.134	5.443	0.15819	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.003543	0.000000	0.005435	0.008824	0.000000	0.000000	0.000000	0.000000	0.07143	971.53	36	chr17	82941437	.	G	A	971.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.985;DP=292;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.097;SOR=0.639	GT:AD:DP:GQ:PL	0/1:53,42:95:99:982,0,1226	6	0	1	0
chr18	674325	674325	G	A	exonic	ENOSF1	.	nonsynonymous SNV	ENOSF1:NM_001354068:exon13:c.C1225T:p.L409F,ENOSF1:NM_001318760:exon14:c.C769T:p.L257F,ENOSF1:NM_001354065:exon15:c.C1066T:p.L356F,ENOSF1:NM_001354066:exon15:c.C1270T:p.L424F,ENOSF1:NM_202758:exon15:c.C1414T:p.L472F,ENOSF1:NM_001354067:exon16:c.C1456T:p.L486F,ENOSF1:NM_017512:exon16:c.C1312T:p.L438F	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0049	0.00359425	0.0015	0.0158	0.0011	0	0	4.498e-05	0	0	0.0013195	204	154602	rs111447271	0.0004	0.0004	0.0005	0.0004	0.0159	0.0004	0.0004	0.0147	0.0143	0.0159	0.0009	0	0	0	0.0002	1.081e-05	0.0009	5.838e-05	0.0043	0.0043	0.0046	0.0040	0.0148	0.0040	0.0039	0.0138	0.0135	0.0148	0	0.0018	0	0	0	0	5.881e-05	0.0043	0.0002	0.402	0.20607	T	0.503	0.11078	T	0.0	0.02946	B	0.001	0.04355	B	0.757186	0.09652	N	0.882965	0.994627	0.25816	N	0.65	0.16133	N	1.48	0.31731	T	0.01	0.07882	N	0.411	0.45142	-1.1099	0.03079	T	0.041	0.17785	T	10	0.003512174	0.00063	T	.	.	.	0.052	0.14661	.	.	0.208000267992	0.20380	.	.	0.0138551849472	0.01324	0.343530386686	0.16965	T	0.033056	0.22754	T	-0.518091	0.00451	T	-0.504005	0.21933	T	0.0118889904664751	0.00185	T	0.830717	0.49671	T	0.15000197	0.34169	0.10263441	0.24604	0.15000197	0.34169	0.10263441	0.24604	-6.417	0.50255	T	.	.	0.079	0.08657	B	.;.;.;.;.	.;.;.;.;.	2.605795	0.33832	19.46	0.98587365384346903	0.43323	0.82855	0.42028	D	AEFDBCI	0.240680	0.36243	N	-0.379775872318719	0.26191	1.42751	-0.149667307426592	0.33422	1.911599	0.99997539704379	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.59	3.61	0.40494	1.229000	0.32202	4.625000	0.44092	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.7437:0.2563	12.404	0.54761	834	0.38640	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	1682.83	35	chr18	674325	.	G	A	1682.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.02;DP=278;ExcessHet=0;FS=0.818;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-1.834;SOR=0.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,66:98:99:1|0:674320_A_G:1693,0,1146:674320	6	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	.	.	.	.	.	.	.	.	0.5	556.67	26	chr18	31541297	.	G	A	556.67	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-0.963;DP=269;ExcessHet=4.1913;FS=371.42;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=2.61;ReadPosRankSum=1.51;SOR=8.977	GT:AD:DP:GQ:PL	0/1:37,27:64:99:164,0,501	0	0	4	3
chr18	32111875	32111875	A	G	exonic	RNF138	.	nonsynonymous SNV	RNF138:NM_001191324:exon2:c.A232G:p.I78V,RNF138:NM_016271:exon3:c.A232G:p.I78V	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0444561647898	.	0.000798722	0.0007	0	0	0	0	0	0	0.0052	0.0005886	91	154602	rs200018900	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0049	0.0048	0	0	0	0	0	0	8.995e-06	0.0005	0.0054	0.0001	0.0001	1.285e-05	0.0003	0.0043	9.143e-05	7.699e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0043	1.0	0.00964	T	0.607	0.07766	T	0.0	0.02946	B	0.0	0.01387	B	0.114447	0.19274	N	0.572253	1	0.81001	D	0.895	0.22405	L	-2.26	0.87352	D	0.09	0.05917	N	0.047	0.01911	-0.6374	0.63256	T	0.450	0.78485	T	10	0.006287098	0.00142	T	0.044456	0.61497	D	0.155	0.40530	0.262	0.20631	0.253981072376	0.25009	0.47609786336065624	0.47529	0.775582379912	0.65011	0.51073807478	0.40326	T	0.012038	0.13037	T	-0.396786	0.02430	T	-0.340813	0.40252	T	0.0327266241670266	0.02425	T	0.632437	0.26482	T	0.024062779	0.01201	0.036301393	0.03051	0.024062779	0.01201	0.036301393	0.03050	-4.983	0.36655	T	.	.	0.066	0.05231	B	.;.;.;.	.;.;.;.	1.795654	0.22827	15.78	0.91709554736188648	0.21004	0.69168	0.34081	D	AEGBI	0.101630	0.20407	N	-0.168750960704115	0.34441	1.965808	0.0142275605219735	0.40373	2.408498	0.834417918388486	0.24751	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.71	4.58	0.56077	1.702000	0.37455	3.001000	0.35921	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8166:0.0:0.1834:0.0	7.787	0.28261	834	0.38640	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	602.63	21	chr18	32111875	.	A	G	602.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.658;DP=217;ExcessHet=0;FS=5.001;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-1.214;SOR=0.96	GT:AD:DP:GQ:PL	0/1:31,29:60:99:613,0,704	6	0	1	0
chr18	32268626	32268626	A	T	exonic	GAREM1	.	nonsynonymous SNV	GAREM1:NM_001242409:exon6:c.T1876A:p.W626R,GAREM1:NM_022751:exon6:c.T1873A:p.W625R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0417029021843	.	.	2.474e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs745899962	9.577e-06	9.577e-06	8.167e-06	1.1e-05	0.0002	5.56e-06	4.35e-06	8.885e-05	7.053e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.04	0.50809	D	0.976	0.77913	D	0.81	0.86255	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.35	0.16217	T	-2.69	0.57435	D	0.818	0.90025	-1.0766	0.08023	T	0.066	0.27295	T	10	0.6172426	0.67775	D	0.041703	0.60073	D	0.377	0.69527	0.269	0.21735	0.384263066157	0.38043	0.5677130302602232	0.56699	0.52537510995	0.50204	0.802261173725	0.82309	T	0.036623	0.24175	T	0.0248075	0.55028	T	0.0721575	0.75054	D	0.454251982510797	0.30953	T	0.825517	0.49863	T	0.7441525	0.80531	0.6754345	0.80942	0.7441525	0.80532	0.6754345	0.80943	-1.74	0.02367	T	.	.	0.993	0.94691	P	.;.	.;.	4.426027	0.68596	25.3	0.98669891695572742	0.44456	0.99409	0.95660	D	AEFBI	0.899035	0.84298	D	0.527271485643956	0.68707	5.254576	0.57825311310625	0.73384	5.961563	0.999998688708466	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	5.85	5.85	0.93663	8.591000	0.90611	11.191000	0.88665	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	1.0:0.0:0.0:0.0	15.927	0.79411	817	0.41665	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	975.44	37	chr18	32268626	.	A	T	975.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.51;DP=303;ExcessHet=0;FS=1.596;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=0.437;SOR=0.868	GT:AD:DP:GQ:PL	0/1:65,42:107:99:986,0,1510	6	0	1	0
chr18	33333375	33333375	A	T	exonic	CCDC178	.	nonsynonymous SNV	CCDC178:NM_001105528:exon10:c.T678A:p.S226R,CCDC178:NM_001308126:exon10:c.T678A:p.S226R,CCDC178:NM_001371120:exon10:c.T678A:p.S226R,CCDC178:NM_001371121:exon10:c.T678A:p.S226R,CCDC178:NM_198995:exon10:c.T678A:p.S226R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00314958351574	.	0.000599042	0.0003	0	0	0	0	0	0	0.0022	0.0002458	38	154602	rs569123408	0.0001	0.0001	7.962e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	3.006e-05	0	0	0	0	0	0	0.0001	0.0022	4.601e-05	4.594e-05	1.286e-05	8.066e-05	0.0015	2.11e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	1.0	0.00964	T	0.838	0.03795	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.23691	N	-1.7	0.00354	N	2.57	0.13673	T	1.33	0.00925	N	0.19	0.21056	-0.9934	0.31722	T	0.026	0.11264	T	9	0.005110532	0.00111	T	0.00315	0.06876	T	0.041	0.10877	0.203	0.11797	0.0482279557977	0.04254	0.03336477903149582	0.03284	0.0176781479552	0.01721	0.257849365473	0.04638	T	0.001082	0.00603	T	-0.590093	0.00167	T	-0.62502	0.10794	T	0.0248628490259182	0.01254	T	0.537746	0.18100	T	0.03993547	0.05608	0.07938037	0.17865	0.03993547	0.05608	0.07938037	0.17865	-2.84	0.08595	T	.	.	0.067	0.04277	B	.;.;.;.;.;.	.;.;.;.;.;.	0.156008	0.05473	1.941	0.41036066679594468	0.02934	0.00616	0.02727	N	AEFDHI	0.029060	0.02676	N	-1.41813899849376	0.02479	0.1095521	-1.24450488637235	0.05213	0.2478506	3.12045640034679E-5	0.03775	0.553676	0.25195	0	0.615948	0.52940	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.17	2.76	0.31527	0.808000	0.26813	1.354000	0.25830	-0.710000	0.03952	0.698000	0.28607	0.968000	0.29604	0.114000	0.18915	0.161:0.0:0.1679:0.6711	6.201	0.19787	782	0.47442	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	694.83	23	chr18	33333375	.	A	T	694.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=178;ExcessHet=0;FS=1.114;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=0.955;SOR=0.941	GT:AD:DP:GQ:PL	0/1:24,28:52:99:705,0,526	6	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R,KIAA1328:NM_001353919:exon6:c.T559C:p.C187R,KIAA1328:NM_001353918:exon7:c.T871C:p.C291R,KIAA1328:NM_020776:exon7:c.T883C:p.C295R,KIAA1328:NM_001353920:exon8:c.T31C:p.C11R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	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	.	.	.	.	.	.	.	.	0.07143	66.44	35	chr18	37067196	.	T	C	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.222;DP=563;ExcessHet=0;FS=262.132;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.24;ReadPosRankSum=1.34;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,44:274:77:0|1:37067196_T_C:77,0,7624:37067196	6	0	1	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353919:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353918:exon7:c.G872A:p.C291Y,KIAA1328:NM_020776:exon7:c.G884A:p.C295Y,KIAA1328:NM_001353920:exon8:c.G32A:p.C11Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	133.24	35	chr18	37067197	.	G	A	133.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-7.087;DP=785;ExcessHet=0.3476;FS=129.294;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=0.634;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,44:274:77:0|1:37067196_T_C:77,0,7624:37067196	5	0	2	0
chr18	50251764	50251764	C	T	exonic	CFAP53	.	nonsynonymous SNV	CFAP53:NM_145020:exon4:c.G494A:p.R165H	Heterotaxy, visceral, 6, autosomal recessive, Autosomal recessive	10	1505	6	1	0	8	0.00265076	.	.	.	532304	not_provided|Heterotaxy,_visceral,_6,_autosomal|CFAP53-related_disorder	MedGen:C3661900|MONDO:MONDO:0013887,MedGen:C3553676,OMIM:614779,Orphanet:450|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.172	0.0213929974462	0.0022	0.000798722	0.0024	0.0001	0.0009	0.0003	0.0020	0.0034	0.0033	0.0022	0.0023027	356	154602	rs138848935	0.0034	0.0034	0.0035	0.0033	0.0036	0.0033	0.0033	0.0033	0.0033	0.0005	0.0011	0.0170	0.0003	0.0011	0.0036	0.0034	0.0061	0.0024	0.0021	0.0021	0.0022	0.0020	0.0028	0.0019	0.0018	0.0025	0.0024	0.0004	0	0.0009	0.0199	0	0.0010	0	0.0028	0.0009	0.0017	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	2.0	0.21473	T	-3.76	0.71276	D	0.67	0.67822	-0.9586	0.39442	T	0.138	0.45508	T	10	0.006061405	0.00136	T	0.021393	0.44151	T	0.172	0.43662	.	.	0.422040124859	0.41822	0.2729855434709832	0.27211	0.417745085427	0.42384	0.480702579021	0.36153	T	0.127136	0.45396	T	-0.23062	0.16567	T	-0.107097	0.62841	T	0.0315478441424417	0.02234	T	0.740126	0.35895	T	0.64005506	0.74834	0.58659947	0.76023	0.67406607	0.76652	0.57435787	0.75345	-9.088	0.68261	D	0.7115408867780539	0.79183	0.130	0.27851	B	.	.	4.562850	0.71921	25.7	0.99947543505911152	0.99913	0.91836	0.54368	D	AEFBI	0.551048	0.56327	D	0.701475539506123	0.79728	7.139553	0.670113134032248	0.80114	7.227928	0.999996717444784	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	3.868000	0.55768	4.017000	0.41215	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.975000	0.56047	0.0:1.0:0.0:0.0	16.508	0.84124	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.002717	0.008772	0.000000	0.000000	0.003049	0.000000	0.07143	1092.63	33	chr18	50251764	.	C	T	1092.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.313;DP=235;ExcessHet=0;FS=0.923;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.54;SOR=0.561	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1103,0,878	6	0	1	0
chr18	63660799	63660799	C	T	splicing	SERPINB3	NM_006919:exon3:c.222+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0016	0	8.786e-05	0	0	9.03e-05	0.0044	0.0109	0.0013713	212	154602	rs79688177	0.0007	0.0007	0.0004	0.0010	0.0106	0.0007	0.0007	0.0101	0.0098	0	6.723e-05	0	0	0	0.0005	6.118e-05	0.0010	0.0106	0.0004	0.0004	0.0002	0.0006	0.0118	0.0003	0.0003	0.0094	0.0085	2.407e-05	0	0	0	0	0	0	4.411e-05	0.0009	0.0118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.469158	0.00860	T	-0.437295	0.29111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.936903	0.57579	23.9	0.96378828586271525	0.29610	0.43020	0.27006	N	AEFDGBCI	.	.	.	0.5030049056135	0.67266	5.058912	0.180687302432807	0.48789	3.09022	0.943402966853635	0.27567	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.706536	0.43039	3.02	3.02	0.33970	2.980000	0.49011	0.516000	0.19122	0.442000	0.21104	0.773000	0.29391	0.106000	0.22736	0.014000	0.10232	0.0:1.0:0.0:0.0	9.781	0.39814	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2354.44	35	chr18	63660799	.	C	T	2354.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.244;DP=409;ExcessHet=0;FS=2.989;MLEAC=1;MLEAF=0.071;MQ=58.18;MQRankSum=-0.239;QD=10.7;ReadPosRankSum=1.65;SOR=0.758	GT:AD:DP:GQ:PL	0/1:118,102:220:99:2365,0,2792	6	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	693.59	29	chr18	65824683	.	C	G	693.59	.	AC=5;AF=0.5;AN=10;BaseQRankSum=0.023;DP=379;ExcessHet=8.9625;FS=442.858;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=1.02;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,10:65:60:.:.:60,0,1128:.	0	0	5	2
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	380.07	29	chr18	79373905	.	C	G	380.07	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.803;DP=206;ExcessHet=2.4304;FS=107.109;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.39;ReadPosRankSum=1.63;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,8:32:13:0|1:79373905_C_G:13,0,555:79373905	1	0	3	3
chr18	79736498	79736498	C	T	exonic	CTDP1	.	nonsynonymous SNV	CTDP1:NM_048368:exon11:c.C2561T:p.A854V	Congenital cataracts, facial dysmorphism, and neuropathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2029955	not_provided|CTDP1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.0146719117037	.	.	0.0007	0	0	0	0	0	0	0.0015	7.12e-05	11	154602	rs775966859	4.879e-05	5.199e-05	2.547e-05	7.279e-05	0.0007	3.91e-05	3.578e-05	0.0006	0.0005	3.186e-05	0	0	0	0	0	9.285e-06	1.735e-05	0.0007	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.0	0.91255	D	.	.	.	0.004	0.12183	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	2.86	0.10482	T	-0.23	0.10656	N	0.115	0.10340	-0.9855	0.33711	T	0.019	0.07753	T	8	0.018797696	0.00412	T	0.014672	0.34938	T	0.026	0.05648	0.43	0.47843	0.138757226776	0.13463	.	.	.	.	.	.	.	.	.	.	-0.402058	0.02244	T	-0.450006	0.27697	T	0.052705168307385	0.05968	T	0.489851	0.15048	T	.	.	.	.	.	.	.	.	-4.836	0.35008	T	.	.	0.108	0.20313	B	.	.	0.350282	0.07236	3.831	0.98333217723901289	0.40358	0.04452	0.10056	N	AEFDBCI	0.019026	0.00624	N	-1.08849691705478	0.06854	0.3167243	-1.22749200509464	0.05472	0.2608367	0.838378897085658	0.24821	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.7	-3.45	0.04479	-0.381000	0.07475	-3.301000	0.02894	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.0:0.2464:0.2819:0.4717	5.257	0.14870	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	126.64	10	chr18	79736498	.	C	T	126.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.087;DP=94;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-3.067;SOR=1.981	GT:AD:DP:GQ:PL	0/1:6,5:11:99:137,0,195	6	0	1	0
chr19	1009531	1009531	C	T	exonic	GRIN3B	.	nonsynonymous SNV	GRIN3B:NM_138690:exon9:c.C3061T:p.R1021C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00943831478807	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773196134	2.995e-06	1.163e-05	4.417e-06	1.523e-06	3.787e-06	7e-07	4.7e-07	8.9e-07	6e-07	0	0	0	0	0	0	3.787e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.05	0.48080	T	0.013	0.16609	B	0.001	0.04355	B	0.000180	0.00507	U	10.414400	1	0.08975	N	1.61	0.41143	L	2.72	0.11947	T	-0.44	0.14588	N	0.111	0.09772	-0.9886	0.32953	T	0.026	0.10998	T	10	0.08516735	0.14349	T	0.009438	0.24739	T	0.027	0.05988	0.408	0.44230	0.316494231283	0.31262	0.2402795844992465	0.23941	0.153597724265	0.17329	0.722209513187	0.70368	T	0.058814	0.30945	T	-0.367957	0.03699	T	-0.766321	0.02891	T	0.12062179037902	0.14491	T	0.516748	0.16663	T	0.047722824	0.08205	0.03135919	0.01713	0.047722824	0.08204	0.03135919	0.01713	-5.541	0.42250	T	.	.	0.158	0.34970	B	.	.	1.940959	0.24650	16.48	0.98832676719737245	0.46985	0.05842	0.11785	N	AEFDBHCIJ	0.089441	0.18128	N	-1.30264425085839	0.03645	0.1631949	-1.40035323824342	0.03249	0.1511688	0.999965397499999	0.48965	0.646311	0.45356	0	0.572659	0.20510	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.9	-3.54	0.04356	-1.477000	0.02437	0.367000	0.17636	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1412:0.4382:0.2557:0.1649	2.462	0.04266	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	.	.	.	.	.	.	.	.	0.07143	435.45	36	chr19	1009531	.	C	T	435.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.345;DP=247;ExcessHet=0;FS=3.812;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=-1.158;SOR=1.277	GT:AD:DP:GQ:PL	0/1:44,21:65:99:446,0,1109	6	0	1	0
chr19	1049358	1049358	-	G	exonic	ABCA7	.	frameshift insertion	ABCA7:NM_019112:exon18:c.2474dupG:p.L827Afs*68	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.468e-06	0	0	0	0	1.554e-05	0	0	6.5e-06	1	154602	rs745310748	2.055e-06	2.052e-06	2.727e-06	1.377e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1001.79	35	chr19	1049358	.	C	CG	1001.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.8;DP=235;ExcessHet=0;FS=2.124;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=-1.753;SOR=0.748	GT:AD:DP:GQ:PL	0/1:26,37:63:99:1012,0,639	6	0	1	0
chr19	1506136	1506136	C	T	exonic	ADAMTSL5	.	nonsynonymous SNV	ADAMTSL5:NM_213604:exon12:c.G1295A:p.R432H,ADAMTSL5:NM_001367197:exon13:c.G1325A:p.R442H	.	416	1095	11	0	0	11	0.00499773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.0680847240193	0.0035	0.00199681	0.0043	0.0006	0.0052	0	0.0021	0.0062	0.0089	0.0004	0.0035381	547	154602	rs142558769	0.0046	0.0046	0.0046	0.0045	0.0053	0.0045	0.0044	0.0052	0.0051	0.0004	0.0047	0.0057	0	0.0016	0.0051	0.0053	0.0043	0.0004	0.0040	0.0040	0.0041	0.0039	0.0086	0.0037	0.0036	0.0074	0.0070	0.0007	0.0099	0.0086	0.0075	0	0.0026	0.0068	0.0054	0.0066	0.0002	0.002	0.72154	D	0.006	0.70582	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999909	0.81001	D	.	.	.	1.96	0.22270	T	-1.99	0.45949	N	0.586	0.60664	-1.0127	0.26070	T	0.085	0.33043	T	10	0.007984608	0.00181	T	0.068085	0.70350	D	0.317	0.63904	.	.	0.423360453849	0.41956	0.6258673513918784	0.62519	0.578952795248	0.53785	0.710147202015	0.68614	T	0.085677	0.37556	T	-0.381951	0.03029	T	-0.316295	0.42979	T	0.0567566217651395	0.06647	T	0.854814	0.54193	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.35540	B	.	.	5.057571	0.84280	28.3	0.99926886699584183	0.99103	0.97639	0.76082	D	AEFGBI	0.877001	0.80136	D	0.344107690941986	0.58429	4.015107	0.190326402248498	0.49315	3.136222	0.999992447582945	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.61	3.61	0.40494	5.987000	0.70248	7.537000	0.60015	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.314000	0.24830	0.0:1.0:0.0:0.0	12.436	0.54937	976	0.04745	Netrin module, non-TIMP type|Netrin domain|Netrin module, non-TIMP 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	0.002528	0.000000	0.002717	0.002924	0.000000	0.008772	0.003086	0.000000	0.07143	810.49	35	chr19	1506136	.	C	T	810.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.79;DP=251;ExcessHet=0;FS=3.617;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.265;SOR=1.236	GT:AD:DP:GQ:PL	0/1:29,30:59:99:821,0,689	6	0	1	0
chr19	1788973	1788973	C	G	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon24:c.G2882C:p.R961P,ATP8B3:NM_138813:exon24:c.G2993C:p.R998P	.	407	1113	2	0	0	2	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	.	.	0.00219649	0.0022	0.0003	0.0002	0.0003	0	2.183e-05	0.0017	0.0145	0.0013195	204	154602	rs542432405	0.0007	0.0007	0.0004	0.0010	0.0109	0.0006	0.0006	0.0103	0.0101	0	6.775e-05	0	5.052e-05	0	0.0003	6.303e-06	0.0009	0.0109	0.0004	0.0004	0.0002	0.0006	0.0120	0.0003	0.0003	0.0095	0.0087	0	0	0	0	0	0	0	1.47e-05	0	0.0120	0.232	0.26300	T	0.09	0.40267	T	0.997	0.70673	D	0.916	0.65201	D	0.000103	0.50451	D	0.136190	0.517873	0.31872	D	1.56	0.39490	L	-0.18	0.65747	T	-5.03	0.82575	D	0.852	0.85132	-0.3581	0.73319	T	0.307	0.67749	T	10	0.026508749	0.00815	T	.	.	.	0.435	0.74022	0.63	0.76588	0.769862474194	0.76775	0.8276361278462078	0.82721	0.52395535879	0.50099	0.457464456558	0.32963	T	0.252156	0.62251	T	-0.185837	0.22870	T	-0.030323	0.68347	D	0.143366999550157	0.16562	T	0.841416	0.51702	T	0.8702966	0.88885	0.83084464	0.90239	0.85695165	0.87856	0.7858091	0.87387	-10.012	0.73984	D	.	.	0.830	0.78721	P	.;.	.;.	5.004724	0.83070	27.9	0.99633565249304912	0.76203	0.99467	0.96390	D	ALL	0.856151	0.77335	D	0.474377630323312	0.65597	4.842755	0.46120397450963	0.65439	4.824032	0.999998730814359	0.74766	0.72623	0.87236	0	0.858003	0.99906	0	0.594344	0.31042	0	0.296957	0.05502	2	.	.	4.89	4.89	0.63387	2.645000	0.46287	4.025000	0.41286	0.575000	0.29119	0.998000	0.41325	0.945000	0.28875	0.992000	0.67800	0.0:0.9111:0.0:0.0889	10.689	0.45054	982	0.03397	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	1	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1277.44	34	chr19	1788973	.	C	G	1277.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.552;DP=290;ExcessHet=0;FS=1.648;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.62;SOR=0.876	GT:AD:DP:GQ:PL	0/1:41,54:95:99:1288,0,864	6	0	1	0
chr19	1923156	1923156	C	T	exonic	SCAMP4	.	nonsynonymous SNV	SCAMP4:NM_001329539:exon5:c.C350T:p.S117L,SCAMP4:NM_001329540:exon5:c.C380T:p.S127L,SCAMP4:NM_079834:exon6:c.C482T:p.S161L	.	415	1057	47	3	0	53	0.0244578	.	.	.	2815119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.0181471237354	0.0012	0.000998403	0.0044	0	0	0	0	0.0032	0	0.0089	0.0011707	181	154602	rs201575102	0.0017	0.0017	0.0015	0.0019	0.0109	0.0016	0.0016	0.0087	0.0082	0.0004	0.0028	0.0098	2.795e-05	4.059e-05	0.0109	0.0010	0.0030	0.0090	0.0012	0.0012	0.0012	0.0013	0.0085	0.0011	0.0010	0.0064	0.0057	0.0003	0	0.0017	0.0072	0	9.427e-05	0	0.0012	0.0028	0.0085	0.666	0.04616	T	0.662	0.08961	T	0.178	0.28960	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.47	0.36993	L	2.26	0.17596	T	-0.72	0.28703	N	0.507	0.55280	-1.0258	0.21821	T	0.032	0.13548	T	9	0.010071874	0.00225	T	0.018147	0.40116	T	0.063	0.18251	.	.	0.168933306366	0.16529	0.8777534529285248	0.87742	0.185573042328	0.20862	0.556228518486	0.46735	T	0.008228	0.07566	T	-0.505838	0.00530	T	-0.491987	0.23182	T	0.0164431426993568	0.00410	T	0.80282	0.45805	T	0.14684372	0.33596	0.11954387	0.28853	0.14684372	0.33596	0.11954387	0.28852	-4.346	0.46877	T	.	.	0.261	0.52385	B	.;.;.;.	.;.;.;.	2.687015	0.35067	19.80	0.95875198977648801	0.28060	0.67837	0.33578	D	AEFGBI	0.284643	0.39746	N	-0.370526598003247	0.26525	1.448272	-0.282638707139203	0.28670	1.60032	0.997094890971606	0.35269	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	2.002000	0.40454	5.853000	0.50357	0.599000	0.40250	0.473000	0.26745	1.000000	0.68203	0.103000	0.18424	0.0:0.9128:0.0:0.0872	10.727	0.45273	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	0	0	1	0	0.009937	0.005051	0.005682	0.018072	0.000000	0.027273	0.009677	0.000000	0.07143	939.83	33	chr19	1923156	.	C	T	939.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.117;DP=249;ExcessHet=0;FS=4.336;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=2.38;SOR=0.336	GT:AD:DP:GQ:PL	0/1:39,42:81:99:950,0,812	6	0	1	0
chr19	2222326	2222326	G	A	exonic	DOT1L	.	nonsynonymous SNV	DOT1L:NM_032482:exon24:c.G3157A:p.A1053T	.	432	1081	8	1	0	10	0.00460405	.	.	.	2815131	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0007	0.00279553	0.0019	0.0003	0.0014	0.0001	0.0013	0.0024	0.0012	0.0022	0.0016947	262	154602	rs144165419	0.0011	0.0011	0.0010	0.0013	0.0116	0.0011	0.0011	0.0094	0.0086	0.0003	0.0018	0.0070	7.558e-05	0.0013	0.0116	0.0009	0.0018	0.0021	0.0013	0.0013	0.0014	0.0012	0.0024	0.0012	0.0011	0.0017	0.0015	0.0001	0	0.0024	0.0075	0.0004	0.0017	0	0.0013	0.0047	0.0019	0.28	0.15509	T	0.356	0.17166	T	0.0	0.02946	B	0.001	0.04355	B	0.311233	0.04016	N	1.390360	1	0.08975	N	0.425	0.12573	N	1.87	0.24085	T	-0.35	0.12847	N	0.058	0.02964	-0.9918	0.32141	T	0.027	0.11485	T	10	0.0050335526	0.00108	T	.	.	.	0.032	0.07718	.	.	0.397201501934	0.39331	0.10979026081044796	0.10908	0.317085791368	0.33956	0.366134017706	0.20276	T	0.053497	0.29459	T	-0.569177	0.00224	T	-0.596527	0.13106	T	0.00228865699688291	0.00024	T	0.492951	0.15215	T	0.03326122	0.03511	0.037221584	0.03330	0.03326122	0.03511	0.037221584	0.03330	-4.001	0.23819	T	.	.	0.061	0.01179	B	.	.	-0.720409	0.01274	0.067	0.87450411866373268	0.17236	0.09293	0.15078	N	AEFDBCI	0.039300	0.05688	N	-1.25827270334809	0.04191	0.1887156	-1.34269773482432	0.03892	0.1825118	0.00367562534620178	0.10231	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.58	-4.01	0.03775	0.205000	0.17154	-2.133000	0.04164	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3563:0.1249:0.2685:0.2504	0.566	0.00642	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	1	0	0	1	0	1	0	0.009073	0.015152	0.013624	0.005848	0.000000	0.000000	0.015337	0.003788	0.07143	1241.45	34	chr19	2222326	.	G	A	1241.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.245;DP=293;ExcessHet=0;FS=7.064;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0;SOR=1.186	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1252,0,1613	6	0	1	0
chr19	3543599	3543599	G	A	exonic	C19orf71	.	nonsynonymous SNV	C19orf71:NM_001135580:exon3:c.G367A:p.V123I	.	427	1066	27	2	0	31	0.0143319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0044	0.00499201	0.0138	0	0.0071	0	0	0.0092	0.0123	0.0230	0.0021604	334	154602	rs201749907	0.0046	0.0044	0.0040	0.0051	0.0188	0.0045	0.0044	0.0180	0.0177	0.0007	0.0020	0.0238	0	0.0006	0.0126	0.0035	0.0050	0.0188	0.0039	0.0039	0.0039	0.0039	0.0161	0.0036	0.0035	0.0132	0.0122	0.0008	0	0.0015	0.0280	0.0002	0.0003	0.0034	0.0051	0.0048	0.0161	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	0.693564	0.06160	N	1.202900	1	0.08975	N	-1.01	0.01154	N	1.75	0.26152	T	0.03	0.06612	N	0.066	0.03841	-1.0149	0.25368	T	0.011	0.04042	T	10	0.001954198	0.00027	T	.	.	.	0.004	0.00165	.	.	0.0138822411134	0.00435	0.020375539965704063	0.01990	.	.	.	.	.	7.72E-4	0.00369	T	-0.706015	0.00034	T	-0.771981	0.02704	T	0.00593379321502835	0.00065	T	0.533947	0.17813	T	0.019139629	0.00439	0.020590123	0.00144	0.019139629	0.00439	0.020590123	0.00144	-3.916	0.22542	T	.	.	0.079	0.07130	B	.	.	-1.276562	0.00458	0.010	0.90003719366668511	0.19294	0.01947	0.05921	N	AEFDBCI	0.028970	0.02648	N	-2.19496529212612	0.00079	0.003372802	-2.22034743869049	0.00101	0.00442548	0.999999794511618	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	4.41	-8.83	0.00696	-2.207000	0.01314	-2.702000	0.03451	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.1833:0.3018:0.5149:0.0	9.454	0.37910	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	0.007921	0.000000	0.008130	0.000000	0.000000	0.000000	0.010638	0.026316	0.07143	498.83	37	chr19	3543599	.	G	A	498.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.08;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.094;SOR=0.611	GT:AD:DP:GQ:PL	0/1:28,20:48:99:509,0,643	6	0	1	0
chr19	3819199	3819199	C	A	exonic	ZFR2	.	nonsynonymous SNV	ZFR2:NM_015174:exon12:c.G1777T:p.V593F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.024719058728	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355352310	1.405e-06	2.736e-06	0	2.828e-06	2.387e-05	2.3e-07	9e-08	3.96e-06	1.48e-06	0	0	0	0	0	0	0	0	2.387e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.971	0.57185	D	0.857	0.61067	P	0.000371	0.45194	U	0.087855	0.771645	0.34158	D	2.99	0.85699	M	2.49	0.14531	T	-4.24	0.76015	D	0.713	0.71587	-1.0943	0.04854	T	0.073	0.29707	T	10	0.6224089	0.68052	D	0.024719	0.47706	T	0.218	0.51265	0.447	0.50629	0.239305524855	0.23518	0.7702207741948882	0.76971	0.450566886049	0.44827	0.523794531822	0.42161	T	0.229105	0.59484	T	-0.11526	0.33902	T	-0.295683	0.45177	T	0.905906200408936	0.55977	D	0.985051	0.94842	D	0.30100784	0.52995	0.25975153	0.51728	0.30100784	0.52995	0.25975153	0.51727	-11.635	0.83028	D	.	.	0.739	0.74599	P	.	.	2.152655	0.27418	17.46	0.99201720197230492	0.55291	0.74668	0.36533	D	AEFBI	0.153192	0.27800	N	-0.150559680712262	0.35211	2.019605	-0.392120227010747	0.25230	1.386286	0.0199400579971495	0.13210	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.82	0.519	0.16233	0.315000	0.19200	0.090000	0.14504	-0.177000	0.10537	0.091000	0.22601	0.003000	0.18671	0.001000	0.02609	0.0:0.4794:0.1912:0.3293	3.598	0.07558	976	0.04745	DZF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	987.63	26	chr19	3819199	.	C	A	987.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.7;DP=273;ExcessHet=0;FS=0.796;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.37;SOR=0.793	GT:AD:DP:GQ:PL	0/1:60,40:100:99:998,0,1347	6	0	1	0
chr19	4524997	4524997	C	T	exonic	PLIN5	.	nonsynonymous SNV	PLIN5:NM_001013706:exon7:c.G800A:p.G267D	.	427	1093	1	1	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0026	0.000798722	0.0065	0	0.0030	0	0	0.0145	0	0.0022	0.002335	361	154602	rs199793340	0.0070	0.0068	0.0071	0.0069	0.0083	0.0069	0.0068	0.0082	0.0081	0.0010	0.0009	0.0025	3.085e-05	0.0013	0.0002	0.0083	0.0056	0.0025	0.0039	0.0039	0.0044	0.0033	0.0072	0.0036	0.0035	0.0067	0.0065	0.0012	0	0.0003	0.0032	0	0.0007	0	0.0072	0.0019	0.0037	0.546	0.06669	T	0.405	0.14771	T	0.017	0.17573	B	0.028	0.21332	B	1.000000	0.07966	U	0.379473	1	0.08975	N	0.11	0.08516	N	2.29	0.17113	T	0.1	0.05810	N	0.145	0.14622	-0.9432	0.42105	T	0.025	0.10553	T	10	0.00473994	0.00100	T	.	.	.	0.022	0.04323	.	.	0.0762999501168	0.06990	0.1023533100457796	0.10165	0.26326674649	0.28884	0.365007430315	0.20112	T	0.002058	0.01461	T	-0.629407	0.00096	T	-0.67189	0.07488	T	0.0013362565657138	0.00013	T	0.432057	0.11757	T	0.035584487	0.04215	0.043056168	0.05269	0.035584487	0.04214	0.043056168	0.05269	-5.926	0.45656	T	.	.	0.096	0.15430	B	.	.	0.631855	0.10002	6.756	0.61836902519589709	0.06809	0.07064	0.13090	N	AEFDBCI	0.089001	0.18041	N	-1.08011411098571	0.07010	0.3243954	-1.11906440735766	0.07336	0.3564484	1.09385260709656E-4	0.05123	0.653496	0.48692	0	0.615948	0.52940	0	0.596874	0.31795	0	0.691587	0.68394	0	.	.	4.06	0.559	0.16459	-0.187000	0.09652	-0.328000	0.09912	0.524000	0.24156	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:0.5972:0.1856:0.2171	4.413	0.10869	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	0.000556	0.000000	0.001437	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	702.46	34	chr19	4524997	.	C	T	702.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.444;DP=203;ExcessHet=0;FS=2.724;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=1.15;SOR=0.38	GT:AD:DP:GQ:PL	0/1:14,30:44:99:713,0,317	6	0	1	0
chr19	4902668	4902668	C	T	exonic	ARRDC5	.	nonsynonymous SNV	ARRDC5:NM_001080523:exon1:c.G158A:p.S53N,ARRDC5:NM_001367189:exon1:c.G158A:p.S53N	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0007	0.00638978	0.0050	0.0001	0.0008	0.0003	0.0005	0.0010	0.0056	0.0309	0.0043208	668	154602	rs138665621	0.0027	0.0027	0.0017	0.0036	0.0311	0.0026	0.0026	0.0301	0.0297	8.961e-05	0.0011	0.0039	0	0.0009	0.0042	0.0007	0.0035	0.0311	0.0018	0.0018	0.0011	0.0026	0.0333	0.0017	0.0016	0.0291	0.0275	9.62e-05	0	0.0016	0.0043	0	0.0010	0.0102	0.0009	0.0009	0.0333	0.735	0.03753	T	0.951	0.02610	T	0.0	0.02946	B	0.001	0.04355	B	0.185306	0.16992	N	0.533626	1	0.08975	N	-0.535	0.02521	N	2.53	0.14038	T	-0.38	0.13418	N	0.161	0.16864	-0.9510	0.40799	T	0.012	0.04510	T	10	0.0037297308	0.00069	T	.	.	.	0.045	0.12272	.	.	0.0401082797425	0.02173	0.2775208959611291	0.27665	0.103935340526	0.11761	0.309453070164	0.11825	T	0.022365	0.17257	T	-0.781078	0.00011	T	-0.871744	0.00726	T	0.000267114848412125	0.00002	T	0.435856	0.11948	T	0.041926865	0.06264	0.05679598	0.10211	0.041926865	0.06264	0.05679598	0.10211	-5.982	0.46129	T	.	.	0.059	0.00793	B	.	.	0.028477	0.04481	1.195	0.45414839528428408	0.03563	0.02204	0.06429	N	AEFDBI	0.028730	0.02584	N	-1.27457791838679	0.03984	0.1790004	-1.20840084884647	0.05774	0.27607	0.00302479948094841	0.09875	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.37	0.557	0.16448	0.282000	0.18587	-0.557000	0.08497	-1.086000	0.01550	0.751000	0.29144	0.000000	0.08366	0.006000	0.07323	0.0:0.3145:0.1652:0.5204	4.524	0.11380	952	0.10565	Arrestin-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	0	0	0	1	0	0	0	0.007553	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.026515	0.07143	1869.48	37	chr19	4902668	.	C	T	1869.48	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=351;ExcessHet=0;FS=0.571;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.454;SOR=0.642	GT:AD:DP:GQ:PL	0/1:87,78:165:99:1880,0,2048	6	0	1	0
chr19	5587737	5587737	C	T	exonic	SAFB2	.	nonsynonymous SNV	SAFB2:NM_014649:exon20:c.G2669A:p.G890E	.	421	1070	29	2	0	33	0.0151864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	.	0.00579073	0.0123	0	0.005	0	0	0.0028	0.0156	0.0279	0.002335	361	154602	rs200613061	0.0022	0.0022	0.0014	0.0029	0.0264	0.0021	0.0021	0.0255	0.0251	0.0002	0.0014	0.0041	2.792e-05	0.0003	0.0090	0.0005	0.0027	0.0264	0.0014	0.0014	0.0011	0.0017	0.0250	0.0012	0.0012	0.0214	0.0201	0.0001	0	0.0014	0.0052	0	0.0002	0.0034	0.0005	0.0033	0.0250	0.003	0.68238	D	0.085	0.41074	T	0.965	0.56013	D	0.559	0.49531	P	0.019005	0.27353	N	0.259107	0.999976	0.18612	N	1.78	0.46185	L	3.02	0.08986	T	-3.47	0.67824	D	0.675	0.68255	-1.0867	0.06102	T	0.024	0.10194	T	10	0.007586062	0.00172	T	.	.	.	0.112	0.31546	.	.	0.187035705434	0.18338	0.15805788808572238	0.15726	0.265702687917	0.29123	0.610117137432	0.54332	T	0.134187	0.46529	T	-0.457542	0.01018	T	-0.409054	0.32335	T	0.0399240815428122	0.03676	T	0.935906	0.76011	D	0.25445426	0.48473	0.2747119	0.53402	0.25445426	0.48473	0.2747119	0.53401	-7.53	0.57822	D	.	.	0.298	0.52841	B	.	.	3.877911	0.56346	23.7	0.99100971918731073	0.52471	0.73588	0.35995	D	AEFDBHCI	0.159565	0.28538	N	0.0667775313195468	0.44917	2.757205	-0.0566194688661995	0.37205	2.175265	0.925377295047793	0.26813	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.0	4.0	0.45673	3.018000	0.49310	3.980000	0.40897	0.599000	0.40250	0.989000	0.36753	0.997000	0.33255	0.059000	0.15899	0.1948:0.8051:0.0:0.0	10.376	0.43265	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011579	0.000000	0.000000	0.015060	0.000000	0.000000	0.012658	0.044000	0.1667	882.92	37	chr19	5587737	.	C	T	882.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.39;DP=260;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.061;SOR=0.652	GT:AD:DP:GQ:PL	0/1:52,21:73:99:424,0,1337	4	0	2	1
chr19	5831660	5831660	C	T	exonic	FUT6	.	nonsynonymous SNV	FUT6:NM_001040701:exon2:c.G908A:p.R303Q,FUT6:NM_001381957:exon2:c.G908A:p.R303Q,FUT6:NM_000150:exon3:c.G908A:p.R303Q,FUT6:NM_001381955:exon3:c.G908A:p.R303Q,FUT6:NM_001381959:exon3:c.G908A:p.R303Q,FUT6:NM_001369502:exon4:c.G908A:p.R303Q,FUT6:NM_001369504:exon4:c.G908A:p.R303Q,FUT6:NM_001369505:exon4:c.G908A:p.R303Q,FUT6:NM_001381956:exon4:c.G908A:p.R303Q,FUT6:NM_001381958:exon5:c.G908A:p.R303Q	Fucosyltransferase 6 deficiency	2	1511	9	0	0	9	0.00296932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0004	0.0117812	0.0062	0.0014	0.0005	0.0004	0	0.0006	0.0011	0.0411	0.0053363	825	154602	rs142915411	0.0026	0.0026	0.0015	0.0037	0.0392	0.0025	0.0025	0.0381	0.0376	0.0012	0.0004	0	0.0001	5.629e-05	0.0012	0.0002	0.0025	0.0392	0.0017	0.0017	0.0011	0.0023	0.0396	0.0015	0.0015	0.0350	0.0332	0.0011	0	0.0004	0	0.0006	0	0	0.0001	0.0019	0.0396	1.0	0.00964	T	0.715	0.05434	T	0.001	0.07471	B	0.007	0.12992	B	0.469400	0.04917	N	1.347070	1	0.08975	N	-0.795	0.01629	N	1.83	0.24841	T	1.3	0.00948	N	0.042	0.06587	-1.0002	0.29860	T	0.026	0.10954	T	10	0.0040806234	0.00080	T	.	.	.	0.012	0.01476	.	.	0.20549828249	0.20151	0.09742670869549662	0.09673	0.428187793213	0.43146	0.231095299125	0.02050	T	0.004503	0.03907	T	-0.726083	0.00025	T	-0.787176	0.02243	T	0.00192946281526445	0.00020	T	0.358964	0.08219	T	0.024834944	0.01355	0.057459738	0.10448	0.024834944	0.01355	0.057459738	0.10447	-3.798	0.20775	T	.	.	0.067	0.02829	B	.;.;.;.;.	.;.;.;.;.	-0.545540	0.01726	0.128	0.92113000809616796	0.21466	0.00262	0.01432	N	AEFBI	0.043866	0.06987	N	-1.76084425124885	0.00648	0.02796577	-1.74759821198303	0.00942	0.04218284	2.84235596300132E-6	0.01202	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.11	-0.68	0.10775	-0.999000	0.03808	-6.726000	0.01322	-0.988000	0.01860	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.0:0.2199:0.0:0.7801	8.405	0.31769	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	1	0	0	1	0	0	0	0.006599	0.010101	0.004087	0.002994	0.000000	0.000000	0.000000	0.007576	0.07143	1843.44	36	chr19	5831660	.	C	T	1843.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.49;DP=402;ExcessHet=0;FS=2.113;MLEAC=1;MLEAF=0.071;MQ=51.1;MQRankSum=0.125;QD=12.63;ReadPosRankSum=0.648;SOR=0.906	GT:AD:DP:GQ:PL	0/1:76,70:146:99:1854,0,1879	6	0	1	0
chr19	5831880	5831880	G	T	exonic	FUT6	.	nonsynonymous SNV	FUT6:NM_001040701:exon2:c.C688A:p.Q230K,FUT6:NM_001381957:exon2:c.C688A:p.Q230K,FUT6:NM_000150:exon3:c.C688A:p.Q230K,FUT6:NM_001381955:exon3:c.C688A:p.Q230K,FUT6:NM_001381959:exon3:c.C688A:p.Q230K,FUT6:NM_001369502:exon4:c.C688A:p.Q230K,FUT6:NM_001369504:exon4:c.C688A:p.Q230K,FUT6:NM_001369505:exon4:c.C688A:p.Q230K,FUT6:NM_001381956:exon4:c.C688A:p.Q230K,FUT6:NM_001381958:exon5:c.C688A:p.Q230K	Fucosyltransferase 6 deficiency	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00414949827601	0.0002	0.000199681	5.767e-05	9.614e-05	0	0	0	8.993e-05	0	0	6.5e-06	1	154602	rs364637	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	2.988e-05	4.474e-05	0	2.519e-05	0	0	0.0002	0.0001	4.646e-05	0.0002	0.0003	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	7.222e-05	0	0.0003	0	0	0	0	0.0003	0	0.0004	1.0	0.00964	T	1.0	0.02465	T	0.0	0.02946	B	0.0	0.01387	B	0.001117	0.00740	U	20.777600	1	0.08975	N	-0.195	0.04202	N	1.97	0.22067	T	-0.11	0.08653	N	0.09	0.08925	-0.9931	0.31801	T	0.014	0.05369	T	10	0.018610537	0.00406	T	0.004149	0.09963	T	0.044	0.11924	.	.	0.154104182512	0.14974	0.12465332453566207	0.12391	0.468396034955	0.46186	0.255060464144	0.04320	T	0.004427	0.03837	T	-0.482824	0.00712	T	-0.705618	0.05524	T	0.0564654188896758	0.06600	T	0.163384	0.01486	T	0.0842828	0.19500	0.053717174	0.09100	0.0842828	0.19500	0.053717174	0.09100	-2.94	0.09569	T	.	.	0.069	0.03698	B	.;.;.;.;.	.;.;.;.;.	-1.423199	0.00344	0.006	0.76963715891198137	0.11681	0.00541	0.02492	N	AEFBI	0.069158	0.13675	N	-1.98287398099833	0.00230	0.009867805	-1.97699288533305	0.00342	0.01511721	6.48873158677104E-6	0.01202	0.422189	0.06491	0	0.59043	0.45803	0	0.600433	0.31921	0	0.613276	0.41899	0	.	.	3.07	-3.46	0.04465	-4.738000	0.00222	-5.157000	0.01826	-1.258000	0.01295	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1217:0.3101:0.2549:0.3134	1.455	0.02239	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1353.44	92	chr19	5831880	.	G	T	1353.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.63;DP=776;ExcessHet=0;FS=12.56;MLEAC=1;MLEAF=0.071;MQ=57.8;MQRankSum=-8.363;QD=3.92;ReadPosRankSum=-2.325;SOR=1.413	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,54:345:99:0|1:5831875_T_C:1364,0,11755:5831875	6	0	1	0
chr19	7765914	7765914	G	A	exonic	CLEC4M	.	nonsynonymous SNV	CLEC4M:NM_001144907:exon3:c.G428A:p.R143Q,CLEC4M:NM_001144911:exon3:c.G407A:p.R136Q,CLEC4M:NM_001144904:exon4:c.G338A:p.R113Q,CLEC4M:NM_001144908:exon4:c.G491A:p.R164Q,CLEC4M:NM_001144909:exon4:c.G491A:p.R164Q,CLEC4M:NM_014257:exon4:c.G491A:p.R164Q,CLEC4M:NM_001144905:exon5:c.G419A:p.R140Q,CLEC4M:NM_001144910:exon5:c.G422A:p.R141Q	SARS infection, protection against	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	0.00539137	.	.	.	.	.	.	.	.	0.001921	50	26028	rs11465376	0.0023	0.0018	0.0015	0.0030	0.0106	0.0021	0.0021	0.0097	0.0094	0.0006	0.0013	0.0051	0.0002	0.0003	0.0022	0.0007	0.0009	0.0106	0.0039	0.0003	0.0019	0.0060	.	0.0013	0.0008	.	.	0	0	0	0	0	0.0364	.	0	0	0	0.65	0.14945	T	0.432	0.32783	T	0.015	0.18474	B	0.001	0.11217	B	.	.	.	.	1	0.08975	N	0.405	0.12330	N	1.96	0.22270	T	0.15	0.07299	N	0.065	0.18239	-0.9411	0.42442	T	0.030	0.12935	T	9	0.0054153204	0.00119	T	.	.	.	0.023	0.04649	.	.	0.0551355673512	0.04727	0.0468578313931277	0.04628	0.281672931401	0.30640	0.371449828148	0.21040	T	0.016395	0.13559	T	-0.368219	0.03685	T	-0.766697	0.02878	T	0.0231948717110094	0.01046	T	0.577942	0.26688	T	0.019204993	0.00447	0.03558665	0.02838	0.019204993	0.00447	0.03558665	0.02838	-1.21	0.08285	T	.	.	0.076	0.16363	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.273345	0.00461	0.010	0.6255468811981012	0.06992	0.00024	0.00244	N	AEFBI	0.052305	0.09323	N	-2.04169666058381	0.00172	0.007362658	-2.12236757773986	0.00166	0.007321059	6.31194013880354E-6	0.01202	0.549168	0.22868	0	0.573888	0.26702	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	1.19	-1.4	0.08499	-1.404000	0.02601	-6.853000	0.01290	-4.503000	0.00027	0.016000	0.19238	0.000000	0.08366	0.005000	0.06747	0.7631:0.0:0.2369:0.0	6.204	0.19805	952	0.10565	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024007	0.045455	0.016736	0.012658	0.000000	0.050000	0.038462	0.029762	0.07143	248.53	24	chr19	7765914	.	G	A	248.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.67;DP=189;ExcessHet=0;FS=1.585;MLEAC=1;MLEAF=0.071;MQ=43.97;MQRankSum=0.324;QD=8.57;ReadPosRankSum=-1.883;SOR=1.179	GT:AD:DP:GQ:PL	0/1:19,10:29:99:259,0,517	6	0	1	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	307.26	36	chr19	7871678	.	G	C	307.26	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.376;DP=418;ExcessHet=1.1394;FS=221.189;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=0.44;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,17:83:92:.:.:92,0,1163:.	4	0	3	0
chr19	8126517	8126517	G	C	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon20:c.C2505G:p.C835W,FBN3:NM_032447:exon20:c.C2505G:p.C835W	.	137	535	548	300	2	1150	0.517583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.559060734512	.	.	0.0002	0	8.868e-05	0	0	1.54e-05	0.0023	0.0015	0.0001876	29	154602	rs3813778	0.0001	0.0001	6.129e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0	0	8.283e-05	0.0025	4.601e-05	4.594e-05	0	9.413e-05	0.0014	2.11e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	2.44497e-07	0.58761	P	3.125	0.87999	M	-7.4	0.99874	D	-9.8	0.98670	D	0.947	0.95491	1.094	0.99390	D	0.991	0.99770	D	9	0.9908964	0.99604	D	0.559061	0.95967	D	0.803	0.93582	0.977	0.99785	0.849904413536	0.84846	0.8931084730889061	0.89280	0.878198912571	0.69658	0.84935772419	0.89518	D	0.588301	0.86624	D	0.0842413	0.62534	D	0.341446	0.89977	D	0.706885159015656	0.41048	D	0.926107	0.72788	D	0.9377664	0.95020	0.84998965	0.91504	0.9377664	0.95020	0.84998965	0.91504	-17.296	0.99139	D	.	.	0.865	0.80568	P	.;.;.	.;.;.	2.913046	0.38644	20.8	0.99231033885037523	0.56214	0.80133	0.39853	D	AEFDGBI	0.703531	0.65954	D	-0.0659779348930585	0.38891	2.284897	-0.285408720332401	0.28579	1.594545	0.202947504415098	0.18146	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	3.79	-5.33	0.02503	0.339000	0.19617	.	.	-0.898000	0.02344	0.995000	0.38783	0.000000	0.08366	0.695000	0.33988	0.7167:0.0:0.2833:0.0	13.052	0.58370	934	0.15400	TB domain|TB domain;TB domain|TB domain;TB domain|TB 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	3808.26	43	chr19	8126517	.	G	C	3808.26	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.204;DP=338;ExcessHet=0.4813;FS=1.115;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=0;SOR=0.793	GT:AD:DP:GQ:PL	0/1:48,44:92:99:1095,0,1189	6	0	1	0
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	459.25	294	chr19	8888803	.	G	A	459.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.498;DP=2563;ExcessHet=0.3476;FS=0.885;MLEAC=2;MLEAF=0.143;MQ=57.72;MQRankSum=-7.027;QD=0.48;ReadPosRankSum=0.471;SOR=0.554	GT:AD:DP:GQ:PL	0/1:463,61:524:99:259,0,17745	5	0	2	0
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	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	.	.	.	.	.	.	.	.	0.1667	158.85	86	chr19	8906329	.	A	G	158.85	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.596;DP=686;ExcessHet=0.3476;FS=15.295;MLEAC=2;MLEAF=0.167;MQ=59.01;MQRankSum=-11.16;QD=0.75;ReadPosRankSum=-0.005;SOR=1.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,9:126:26:0|1:8906323_G_A:26,0,4886:8906323	4	0	2	1
chr19	8909407	8909407	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon21:c.T37412C:p.L12471P	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0134266872253	.	0.000998403	0.0009	0	0.0002	0	0	1.498e-05	0.0022	0.0059	0.000705	109	154602	rs377670001	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0051	0.0049	0	0	0	0	0	0.0005	0	0.0002	0.0055	0.0002	0.0002	0.0002	0.0002	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	0	0	0.0054	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.969279	0.38717	D	.	.	.	1.68	0.27184	T	-5.0	0.82341	D	0.321	0.36148	-0.5551	0.66591	T	0.177	0.52256	T	8	0.0131135285	0.00279	T	0.013427	0.32827	T	0.156	0.40720	0.629	0.76478	0.371344866733	0.36741	0.23508458568727364	0.23423	.	.	0.368683367968	0.20643	T	.	.	.	-0.39004	0.02689	T	-0.330984	0.41360	T	0.31683182670962	0.25693	T	0.712529	0.32403	T	.	.	.	.	.	.	.	.	-8.298	0.63082	D	.	.	0.279	0.51262	B	.	.	1.827899	0.23228	15.93	0.73820458536572464	0.10467	0.17059	0.19671	N	AEFBI	0.236852	0.35923	N	0.173040058461067	0.49906	3.18607	-0.0735789029116334	0.36486	2.124011	3.37487807728716E-4	0.06583	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.32	3.32	0.37134	3.056000	0.49616	.	.	0.398000	0.20534	0.060000	0.21767	0.929000	0.28499	0.008000	0.08271	1.0:0.0:0.0:0.0	8.642	0.33145	934	0.15400	SEA domain|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	0.002014	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.07143	3740.44	47	chr19	8909407	.	A	G	3740.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.38;DP=603;ExcessHet=0;FS=2.091;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=3.67;SOR=0.719	GT:AD:DP:GQ:PL	0/1:116,144:260:99:3751,0,2611	6	0	1	0
chr19	8951955	8951955	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.T24815G:p.L8272R	.	412	1101	9	0	0	9	0.00407056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	0.0002	0.00239617	0.0011	0	0.0003	0	0	0.0002	0.0022	0.0072	0.0009638	149	154602	rs201558618	0.0006	0.0006	0.0003	0.0008	0.0072	0.0005	0.0005	0.0068	0.0066	0	0.0001	0	0	0	0.0033	0.0001	0.0005	0.0072	0.0004	0.0004	0.0003	0.0004	0.0083	0.0003	0.0003	0.0063	0.0056	2.406e-05	0	0.0002	0	0.0002	0	0	0.0002	0.0005	0.0083	0.013	0.53900	D	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	-0.19	0.09965	N	0.183	0.19861	-1.0015	0.29488	T	0.052	0.22230	T	8	0.005577415	0.00123	T	.	.	.	0.076	0.22200	.	.	0.0762999501168	0.06990	0.051510485554832085	0.05093	.	.	0.188459247351	0.00199	T	.	.	.	-0.585983	0.00177	T	-0.610075	0.11978	T	0.0427523429013367	0.04192	T	0.19768	0.02201	T	.	.	.	.	.	.	.	.	-6.627	0.51259	T	.	.	0.163	0.36073	B	.	.	-0.290650	0.02658	0.339	0.35847109160498031	0.02273	0.02259	0.06535	N	AEFBI	0.028176	0.02435	N	-1.14330861850654	0.05890	0.2697483	-1.36494604592118	0.03632	0.1698581	0.00182748370770773	0.08920	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.55	-4.6	0.03148	-1.027000	0.03703	.	.	-1.600000	0.00894	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7157:0.0:0.2843:0.0	8.216	0.30671	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.007576	0.07143	2273.44	67	chr19	8951955	.	A	C	2273.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.546;DP=631;ExcessHet=0;FS=1.83;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=1.33;SOR=0.858	GT:AD:DP:GQ:PL	0/1:91,90:181:99:2284,0,2432	6	0	1	0
chr19	10096146	10096146	C	T	exonic	ANGPTL6	.	nonsynonymous SNV	ANGPTL6:NM_001321411:exon2:c.G418A:p.G140R,ANGPTL6:NM_031917:exon2:c.G418A:p.G140R	.	437	1082	2	0	1	3	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0794886600192	.	.	0.0002	0	0	0	0	0	0	0.0013	3.88e-05	6	154602	rs536265958	2.473e-05	3.284e-05	6.439e-06	4.393e-05	0.0005	1.754e-05	1.523e-05	0.0004	0.0003	0	0	0	0	3.456e-05	0	2.019e-06	0	0.0005	6.593e-06	6.565e-06	0	1.349e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.029	0.45756	D	0.054	0.47581	T	0.935	0.52277	P	0.166	0.35067	B	0.237213	0.15790	N	0.584217	0.962491	0.26064	N	0.895	0.22405	L	0.36	0.57880	T	0.94	0.01529	N	0.124	0.12055	-1.0208	0.23454	T	0.064	0.26456	T	10	0.07851571	0.12524	T	0.079489	0.73246	D	0.106	0.30130	0.303	0.27164	0.656282026865	0.65341	0.24166994945176548	0.24080	.	.	0.878594338894	0.93771	D	0.010437	0.30431	T	-0.298552	0.08796	T	-0.354247	0.38717	T	0.1796560936846	0.19213	T	0.737326	0.35372	T	0.15770872	0.35521	0.16039993	0.37361	0.15770872	0.35520	0.16039993	0.37360	-4.702	0.33428	T	.	.	0.372	0.57957	A	.;.;.	.;.;.	2.798576	0.36809	20.3	0.99751975994370179	0.84305	0.93736	0.59044	D	ALL	0.338003	0.43561	N	-0.0799227281858778	0.38274	2.239114	-0.0391568206571873	0.37964	2.230038	0.999999999999997	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.606814	0.37721	0	0.765457	0.99879	0	.	.	4.36	4.36	0.51643	2.459000	0.44680	3.591000	0.39190	0.499000	0.22661	0.261000	0.24959	0.538000	0.25400	0.106000	0.18562	0.0:1.0:0.0:0.0	15.798	0.78197	892	0.26670	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	420.66	19	chr19	10096146	.	C	T	420.66	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.677;DP=170;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.306;SOR=0.793	GT:AD:DP:GQ:PL	0/1:16,17:33:99:431,0,366	6	0	1	0
chr19	10338789	10338789	C	A	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon2:c.G236T:p.G79V,ICAM3:NM_001320606:exon2:c.G5T:p.G2V,ICAM3:NM_002162:exon2:c.G236T:p.G79V	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	.	7.7e-05	0.00239617	0.0021	0.0002	8.64e-05	0	0	4.497e-05	0.0033	0.0148	0.0017917	277	154602	rs145741513	0.0009	0.0009	0.0005	0.0014	0.0149	0.0009	0.0009	0.0142	0.0140	2.987e-05	0	0	2.519e-05	0	0	2.428e-05	0.0005	0.0149	0.0005	0.0005	0.0004	0.0007	0.0137	0.0004	0.0004	0.0110	0.0101	7.216e-05	0	0	0	0	0	0	0.0001	0	0.0137	0.051	0.39334	T	0.091	0.51421	T	0.986	0.61523	D	0.937	0.67262	D	0.215770	0.16257	N	0.610776	0.857715	0.39861	D	2.83	0.82355	M	2.38	0.15843	T	-4.06	0.74582	D	0.468	0.50418	-0.9579	0.39571	T	0.104	0.38267	T	10	0.014370769	0.00302	T	.	.	.	0.254	0.56428	.	.	0.444807159249	0.44105	0.576087375340809	0.57537	1.38039980579	0.84761	0.282630443573	0.07862	T	0.159719	0.50327	T	-0.461828	0.00958	T	-0.423837	0.30635	T	0.128369536934514	0.15230	T	0.717128	0.33447	T	0.7390174	0.80236	0.51835674	0.72172	0.7390174	0.80237	0.51835674	0.72172	-6.636	0.51327	T	.	.	0.345	0.59904	A	.;.;.;.;.	.;.;.;.;.	3.053305	0.40982	21.3	0.99640036919943697	0.76571	0.65527	0.32767	D	AEFBCIJ	0.165513	0.29202	N	0.500712381227294	0.67131	5.041073	0.427046149151113	0.63254	4.555783	0.999996722917702	0.74766	0.643511	0.44296	0	0.685571	0.66316	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.66	4.63	0.57175	1.438000	0.34612	2.392000	0.32546	0.533000	0.24879	0.958000	0.33488	0.987000	0.30940	0.150000	0.20306	0.0:0.9064:0.0:0.0936	9.537	0.38396	758	0.50837	Intercellular adhesion molecule, N-terminal|Immunoglobulin subtype;Intercellular adhesion molecule, N-terminal;Intercellular adhesion molecule, N-terminal;Intercellular adhesion molecule, N-terminal;Intercellular adhesion molecule, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.001359	0.005848	0.000000	0.000000	0.000000	0.007576	0.07143	1553.44	37	chr19	10338789	.	C	A	1553.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.095;DP=346;ExcessHet=0;FS=2.14;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.039;SOR=0.898	GT:AD:DP:GQ:PL	0/1:76,65:141:99:1564,0,1923	6	0	1	0
chr19	10339560	10339560	C	T	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon1:c.G55A:p.V19I,ICAM3:NM_002162:exon1:c.G55A:p.V19I	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	7.7e-05	0.00239617	0.0022	0.0002	0.0002	0	0	9.094e-05	0.0045	0.0151	0.0018628	288	154602	rs148348101	0.0009	0.0009	0.0005	0.0014	0.0151	0.0009	0.0009	0.0144	0.0141	0	0	0	2.519e-05	0	0.0009	2.878e-05	0.0005	0.0151	0.0005	0.0005	0.0003	0.0007	0.0137	0.0004	0.0004	0.0110	0.0101	7.213e-05	0	0	0	0	0	0	5.88e-05	0	0.0137	0.331	0.13088	T	1.0	0.01155	T	0.012	0.16265	B	0.004	0.10090	B	0.042213	0.01902	N	2.631980	1	0.19599	N	1.36	0.34107	L	4.3	0.02437	T	-0.11	0.08653	N	0.032	0.00825	-0.9412	0.42426	T	0.008	0.02760	T	10	0.005120039	0.00111	T	.	.	.	0.032	0.07718	.	.	0.143124449307	0.13826	0.19154345286049587	0.19072	0.328158930332	0.34936	0.285743236542	0.08305	T	0.065251	0.32640	T	-0.72936	0.00024	T	-0.808127	0.01707	T	0.00756535430341179	0.00088	T	0.419458	0.11115	T	0.027059333	0.01845	0.022996616	0.00316	0.027059333	0.01845	0.022996616	0.00316	-4.357	0.28968	T	.	.	0.091	0.12891	B	.	.	-0.439759	0.02069	0.190	0.8623663793516213	0.16402	0.02677	0.07305	N	ALL	0.038696	0.05515	N	-1.32508684775682	0.03390	0.1513651	-1.39815435686502	0.03272	0.1522784	0.999999999993461	0.74766	0.741868	0.97996	0	0.52208	0.09955	0	0.774882	0.98623	0	0.631631	0.49550	0	.	.	4.4	-6.04	0.01995	-0.394000	0.07357	-2.522000	0.03652	-0.192000	0.09343	0.000000	0.06391	0.000000	0.08366	0.390000	0.26558	0.1201:0.2106:0.59:0.0793	7.966	0.29259	758	0.50837	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.011364	0.07143	1362.83	32	chr19	10339560	.	C	T	1362.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.325;DP=256;ExcessHet=0;FS=4.591;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.83;ReadPosRankSum=-1.356;SOR=0.308	GT:AD:DP:GQ:PL	0/1:28,53:81:99:1373,0,573	6	0	1	0
chr19	12688262	12688262	G	A	exonic	GNG14	.	nonsynonymous SNV	GNG14:NM_001316692:exon1:c.G214A:p.A72T	.	422	1094	5	1	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00499201	0.0155	0.0047	0.0217	0	0	0	0	0.0218	0.0013001	201	154602	rs565201231	0.0031	0.0027	0.0015	0.0045	0.0261	0.0030	0.0029	0.0250	0.0246	6.326e-05	0.0003	0	3.115e-05	0	0.0007	7.571e-05	0.0013	0.0261	0.0009	0.0009	0.0005	0.0012	0.0259	0.0008	0.0007	0.0222	0.0208	0.0001	0	6.539e-05	0	0	0	0	2.941e-05	0	0.0259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0058311224	0.00130	T	.	.	.	.	.	.	.	.	.	0.018916223443627294	0.01845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363764	0.08432	T	0.019201158	0.00447	0.07376117	0.16063	0.019201158	0.00447	0.07376117	0.16063	-3.999	0.23789	T	.	.	0.081	0.08417	B	.;.	.;.	0.068827	0.04776	1.394	0.77561919239879162	0.11927	0.04423	0.10016	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00858981922293318	0.11703	0.092769	0.02424	0	0.09434	0.02614	0	0.121787	0.03316	0	0.09929	0.02979	0	0.158406	0.27965	4.79	-6.56	0.01680	-0.660000	0.05416	.	.	-1.803000	0.00622	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.589:0.1297:0.2812:0.0	6.946	0.23695	721	0.55360	G-protein gamma-like domain;G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-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	.	.	.	.	.	.	.	.	0.07143	1354.49	34	chr19	12688262	.	G	A	1354.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.586;DP=268;ExcessHet=0;FS=2.976;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-0.118;SOR=0.417	GT:AD:DP:GQ:PL	0/1:39,49:88:99:1365,0,993	6	0	1	0
chr19	15372978	15372978	G	A	exonic	AKAP8	.	nonsynonymous SNV	AKAP8:NM_005858:exon5:c.C734T:p.P245L	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.098938575206	.	.	3.337e-05	0	0	0	0	0	0.0017	0.0002	3.23e-05	5	154602	rs774386640	2.408e-05	3.283e-05	6.997e-06	4.159e-05	0.0003	1.733e-05	1.53e-05	0.0002	0.0002	0	2.616e-05	0	0	1.982e-05	0.0002	3.68e-06	0	0.0003	1.97e-05	1.969e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.997	0.86255	D	0.000058	0.53742	D	0.000000	1	0.81001	D	2.255	0.64187	M	-0.11	0.64445	T	-1.97	0.45587	N	0.565	0.58883	-0.1520	0.78867	T	0.416	0.76292	T	10	0.52828854	0.63036	D	0.098939	0.77025	D	0.196	0.47777	0.229	0.15556	0.618175850084	0.61509	0.4913953343680154	0.49060	0.490765636778	0.47787	0.428801476955	0.29045	T	0.434456	0.78153	T	-0.213946	0.18827	T	-0.228939	0.51873	T	0.350140444676526	0.27024	T	0.838216	0.51127	T	0.23907952	0.46794	0.27562323	0.53500	0.23907952	0.46794	0.27562323	0.53499	-7.297	0.56174	T	.	.	0.117	0.23848	B	.	.	5.004690	0.83070	27.9	0.99855136497786934	0.93368	0.86912	0.46301	D	AEFDBCI	0.388636	0.46817	N	0.497309583088427	0.66931	5.014688	0.366046253725354	0.59480	4.126224	0.997171614148199	0.35344	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.71	4.71	0.59010	5.806000	0.68817	.	.	0.674000	0.70861	0.999000	0.42656	1.000000	0.68203	0.524000	0.29567	0.0:0.0:1.0:0.0	15.065	0.71654	656	0.62345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.1429	2780.24	36	chr19	15372978	.	G	A	2780.24	.	AC=2;AF=0.143;AN=14;DP=287;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.27;SOR=0.896	GT:AD:DP:GQ:PL	1/1:0,95:95:99:2801,284,0	6	1	0	0
chr19	15438635	15438635	C	T	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001371589:exon4:c.G2359A:p.A787T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00465684237215	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1398904784	8.686e-06	8.893e-06	7.14e-06	1.028e-05	2.526e-05	4.63e-06	3.66e-06	4.19e-06	2.31e-06	0	0	0	0	0	0	7.428e-06	3.462e-05	2.526e-05	6.568e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000058	0.53742	D	0.000000	0.910026	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-1.0616	0.11361	T	0.030	0.12717	T	7	0.23106867	0.40073	T	0.004657	0.11566	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.927307	0.73215	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.63095	A	.	.	4.661665	0.74412	26.2	0.99926253017191058	0.99103	0.83047	0.42199	D	AEFBHCI	0.460671	0.51075	N	0.179978842298607	0.50238	3.215804	0.204591366603408	0.50100	3.205794	0.999744731038913	0.42466	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.97	4.97	0.65419	4.503000	0.60128	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.393	0.87328	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	30.43	.	chr19	15438635	.	C	T	30.43	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	3	0	1	3
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	1295.06	21	chr19	17286688	.	GTGTT	*	1295.06	.	AC=7;AF=0.583;AN=12;BaseQRankSum=1.13;DP=282;ExcessHet=0.4139;FS=7.251;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=1.35;SOR=0.301	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,6:22:99:.:.:1170,472,390:.	1	2	3	1
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	323.08	30	chr19	17286692	.	T	*	323.08	.	AC=10;AF=0.833;AN=12;BaseQRankSum=1.07;DP=273;ExcessHet=0;FS=2.13;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=1.77;ReadPosRankSum=0;SOR=1.506	GT:AD:DP:GQ:PL	1/1:0,28:28:99:1598,113,0	0	4	2	1
chr19	17455656	17455656	C	-	exonic	NXNL1	.	frameshift deletion	NXNL1:NM_138454:exon2:c.630delG:p.L211Cfs*53	.	600	920	2	0	0	2	0.00108578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	0	0.0096	0	0	0	0.0125	0.0073	3.84e-05	1	26028	rs748149169	0.0006	0.0006	0.0004	0.0009	0.0066	0.0006	0.0006	0.0043	0.0041	4.838e-05	6.316e-05	9.912e-05	0	0	0.0066	0.0003	0.0005	0.0047	0.0003	0.0003	0.0001	0.0004	0.0051	0.0002	0.0002	0.0035	0.0030	4.853e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0.0051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008974	0.000000	0.000000	0.028736	0.000000	0.000000	0.013889	0.000000	0.1667	458.87	16	chr19	17455655	.	GC	G	458.87	.	AC=2;AF=0.167;AN=12;DP=105;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.59;SOR=0.818	GT:AD:DP:GQ:PL	1/1:0,15:15:45:478,45,0	5	1	0	1
chr19	19268050	19268050	G	A	exonic	TM6SF2	.	nonsynonymous SNV	TM6SF2:NM_001001524:exon7:c.C647T:p.P216L	.	406	1099	17	0	0	17	0.00767494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.596	0.109003907136	0.0002	0.000599042	0.0004	0	0.0012	0	0	0.0005	0.0045	0.0002	0.0003881	60	154602	rs186811910	0.0004	0.0004	0.0004	0.0004	0.0113	0.0003	0.0003	0.0091	0.0083	0.0004	0.0011	0.0008	0	0	0.0113	0.0003	0.0011	0.0003	0.0006	0.0006	0.0006	0.0006	0.0038	0.0005	0.0005	0.0030	0.0027	9.632e-05	0	0.0038	0.0003	0	0	0.0034	0.0003	0.0028	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000240	0.47286	U	0.000000	1	0.81001	D	3.11	0.87757	M	0.75	0.50192	T	-7.98	0.96395	D	0.879	0.87699	-0.4054	0.71857	T	0.248	0.61762	T	10	0.42586207	0.57169	T	0.109004	0.78579	D	0.596	0.83965	.	.	0.356484672536	0.35262	0.6789202065776354	0.67831	0.806251199678	0.66477	0.468622773886	0.34490	T	0.298611	0.67117	T	0.0305121	0.55791	T	0.191791	0.82669	D	0.424041986465454	0.29840	T	0.973803	0.90577	D	0.6937057	0.77712	0.49910516	0.71039	0.6937057	0.77714	0.49910516	0.71040	-10.515	0.76933	D	.	.	0.327	0.55011	B	.	.	4.483275	0.69966	25.5	0.99820414673699931	0.90326	0.98494	0.83372	D	AEFDBI	0.845905	0.76280	D	0.584315029465696	0.72196	5.767704	0.446677935506681	0.64503	4.707086	0.999998193255724	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.74	4.74	0.59717	7.921000	0.86938	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.058000	0.15825	0.0:0.0:1.0:0.0	15.219	0.72983	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.012228	0.023392	0.000000	0.025862	0.006098	0.007576	0.07143	1327.53	35	chr19	19268050	.	G	A	1327.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.354;DP=270;ExcessHet=0;FS=3.042;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.502;SOR=0.385	GT:AD:DP:GQ:PL	0/1:30,58:88:99:1338,0,664	6	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	7773.01	48	chr19	20624371	.	G	*	7773.01	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.21;DP=520;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=57.23;MQRankSum=-2.933;QD=22.4;ReadPosRankSum=0.944;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,81:81:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1992,181,0:20624327	4	1	0	2
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	7733.59	48	chr19	20624379	.	C	*	7733.59	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.587;DP=519;ExcessHet=0;FS=0.687;MLEAC=3;MLEAF=0.3;MQ=57.14;MQRankSum=-2.819;QD=21.97;ReadPosRankSum=-0.576;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,81:81:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1992,181,0:20624327	4	1	0	2
chr19	20624464	20624464	A	0	exonic	ZNF626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4691.96	48	chr19	20624464	.	A	*	4691.96	.	AC=2;AF=0.333;AN=6;DP=525;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=57.22;QD=14.66;SOR=1.019	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,81:81:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1992,181,0:20624327	2	1	0	4
chr19	20624486	20624486	C	0	exonic	ZNF626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4112.96	48	chr19	20624486	.	C	*	4112.96	.	AC=2;AF=0.333;AN=6;DP=508;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=58.03;QD=13.53;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,81:81:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1992,181,0:20624327	2	1	0	4
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	964.56	55	chr19	21383393	.	G	*	964.56	.	AC=5;AF=0.357;AN=14;DP=319;ExcessHet=0.0509;FS=4.711;MLEAC=5;MLEAF=0.357;MQ=60;QD=4;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,25:56:99:1|0:21383385_TAATTCATGCTGGAGAGAAACACTACAAATGTGAAAAATGTGGCAAAGATTTTAAACAGTCCTCACACCTTACTAAACATAAGAC_T:1969,977,1236:21383385	3	1	3	0
chr19	29942634	29942634	T	A	exonic	URI1	.	nonsynonymous SNV	URI1:NM_003796:exon1:c.T87A:p.D29E	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.134331333968	.	.	1.814e-05	0	0	0	0	3.141e-05	0	0	6.5e-06	1	154602	rs12984378	3.321e-05	3.283e-05	3.063e-05	3.584e-05	0.0017	2.502e-05	2.224e-05	0.0008	0.0006	0	0	0	0	0	0.0017	3.197e-05	5.762e-05	0	3.317e-05	3.292e-05	2.593e-05	4.075e-05	5.916e-05	1.27e-05	8.05e-06	1.98e-05	1.13e-05	2.435e-05	0	0	0	0	0	0	5.916e-05	0	0	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0	0.06538	N	.	.	.	.	.	.	0.071	0.04426	-1.1016	0.03903	T	0.063	0.26136	T	9	0.0936493	0.16590	T	0.134331	0.81676	D	.	.	0.141	0.04462	0.403752378121	0.39992	0.23545020665227448	0.23460	.	.	0.828463613987	0.86327	D	0.008122	0.07471	T	-0.229561	0.16708	T	-0.470671	0.25444	T	0.0388106361156018	0.03477	T	0.29797	0.05545	T	0.028042363	0.02083	0.033694703	0.02308	0.028042363	0.02083	0.033694703	0.02308	-2.499	0.05774	T	.	.	0.085	0.10062	B	.	.	1.357353	0.17655	13.29	0.91750377529962956	0.21049	0.46956	0.27875	N	ALL	0.069139	0.13670	N	-0.848536985470292	0.12086	0.587006	-0.730922873378169	0.16193	0.855406	0.999999999956758	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	3.32	-0.639	0.10920	0.677000	0.24942	5.355000	0.48384	-1.584000	0.00915	1.000000	0.71638	1.000000	0.68203	0.086000	0.17578	0.0:0.2078:0.3866:0.4056	5.240	0.14787	969	0.06854	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002548	0.010526	0.001359	0.005952	0.000000	0.000000	0.000000	0.000000	0.07143	293.63	27	chr19	29942634	.	T	A	293.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.346;DP=162;ExcessHet=0;FS=3.892;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=1.28;SOR=1.555	GT:AD:DP:GQ:PL	0/1:11,13:24:99:304,0,249	6	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.25	769.34	158	chr19	32999679	.	G	A	769.34	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.574;DP=1011;ExcessHet=1.383;FS=2.539;MLEAC=3;MLEAF=0.25;MQ=54.18;MQRankSum=-3.924;QD=1.68;ReadPosRankSum=1.92;SOR=0.584	GT:AD:DP:GQ:PL	0/1:148,30:178:99:215,0,3897	3	0	3	1
chr19	34378981	34378981	G	T	exonic	GPI	.	nonsynonymous SNV	GPI:NM_001289790:exon6:c.G597T:p.E199D,GPI:NM_000175:exon7:c.G681T:p.E227D,GPI:NM_001184722:exon7:c.G714T:p.E238D,GPI:NM_001329911:exon7:c.G681T:p.E227D,GPI:NM_001289789:exon8:c.G798T:p.E266D,GPI:NM_001329909:exon8:c.G681T:p.E227D,GPI:NM_001329910:exon8:c.G681T:p.E227D	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	3061799	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.272	0.0458389243259	.	0.000798722	0.0003	0	0	0	0	0	0	0.0023	0.0002717	42	154602	rs573256848	0.0001	0.0001	8.712e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	0	0.0002	0.0023	9.188e-05	9.185e-05	3.853e-05	0.0001	0.0029	5.521e-05	4.36e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.224	0.18691	T	0.871	0.03305	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.84330	N	0.094208	0.999963	0.52935	D	0.525	0.13617	N	-3.26	0.93587	D	-1.46	0.35792	N	0.339	0.38027	-0.5176	0.68004	T	0.518	0.81951	D	10	0.023552418	0.00620	T	0.045839	0.62172	D	0.272	0.58758	0.431	0.48007	0.906226153437	0.90528	0.7404080131666513	0.73985	0.411041639006	0.41868	0.64079284668	0.58676	T	0.740687	0.92815	D	-0.344583	0.05077	T	-0.27453	0.47362	T	0.0208929638268118	0.00790	T	0.883212	0.62952	D	0.37402704	0.58881	0.09927936	0.23698	0.37402704	0.58881	0.09927936	0.23697	-6.006	0.46330	T	0.1037295922932382	0.08033	0.104	0.29116	B	.;.;.;.;.	.;.;.;.;.	1.507635	0.19370	14.23	0.98303602505200127	0.40068	0.86783	0.46139	D	AEFGBHCI	0.704317	0.66007	D	-0.605095138798471	0.18791	0.9783838	-0.442399737967929	0.23765	1.297735	0.0124388736193344	0.12327	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.93	0.124	0.14016	0.506000	0.22367	0.024000	0.13633	0.676000	0.76740	0.999000	0.42656	0.473000	0.25062	0.799000	0.37691	0.3427:0.1358:0.5215:0.0	5.779	0.17562	932	0.16191	Phosphoglucose isomerase, SIS domain 1;.;Phosphoglucose isomerase, SIS domain 1;.;Phosphoglucose isomerase, SIS domain 1	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	2373.53	33	chr19	34378981	.	G	T	2373.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.03;DP=364;ExcessHet=0;FS=0.541;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.056;SOR=0.623	GT:AD:DP:GQ:PL	0/1:87,98:185:99:2384,0,1958	6	0	1	0
chr19	35511468	35511480	ACCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	67.59	39	chr19	35511468	.	ACCACTGCTGCCG	*	67.59	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.967;DP=325;ExcessHet=1.1394;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,23:69:99:.:.:846,0,1822:.	5	0	2	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	971.47	32	chr19	35511491	.	C	*	971.47	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.835;DP=336;ExcessHet=1.1394;FS=0.593;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=5.92;ReadPosRankSum=0.13;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,23:69:99:.:.:846,0,1822:.	5	0	2	0
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1980.43	59	chr19	37887095	.	C	T	1980.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.501;DP=540;ExcessHet=4.7409;FS=289.526;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.2;ReadPosRankSum=0.856;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,24:90:99:0|1:37887093_A_G:427,0,2222:37887093	1	0	5	1
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1734.39	47	chr19	37887096	.	A	G	1734.39	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-3.754;DP=528;ExcessHet=2.5225;FS=289.601;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.26;ReadPosRankSum=1.08;SOR=9.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,24:90:99:0|1:37887093_A_G:427,0,2222:37887093	2	0	4	1
chr19	38408781	38408781	G	A	exonic	FAM98C	.	nonsynonymous SNV	FAM98C:NM_001351675:exon6:c.G703A:p.G235S,FAM98C:NM_174905:exon8:c.G949A:p.G317S	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.780	0.0637544355438	.	.	1.66e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs754022580	1.231e-05	1.231e-05	8.168e-06	1.65e-05	0.0002	7.7e-06	6.35e-06	9.792e-05	7.839e-05	0	0	0	2.52e-05	0	0	8.993e-07	3.312e-05	0.0002	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.424131	0.04666	N	1.420460	0.860269	0.81001	D	3.39	0.91563	M	-1.31	0.79666	T	-5.53	0.86073	D	0.889	0.89131	0.094	0.84065	D	0.772	0.92262	D	10	0.97424334	0.97128	D	0.063754	0.69066	D	0.780	0.92664	0.864	0.95995	0.914971029816	0.91411	0.6498900534379484	0.64925	0.737478978049	0.63061	0.527384519577	0.42666	T	0.352588	0.72000	T	0.397981	0.89796	D	0.53655	0.95309	D	0.939560161813053	0.61111	D	0.873013	0.68343	D	0.7659568	0.81806	0.8367999	0.90628	0.7659568	0.81808	0.8367999	0.90628	-3.477	0.18350	T	.	.	0.522	0.66225	A	.;.	.;.	4.699846	0.75395	26.3	0.99897986523618532	0.97048	0.94568	0.61589	D	AEFI	0.833741	0.75190	D	0.924520244726384	0.92909	11.70218	0.890483267331518	0.95145	13.35121	0.999994482081721	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.92	5.92	0.95557	5.990000	0.70269	9.770000	0.81549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	17.815	0.88542	601	0.67921	.;.	.	.	.	.	.	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	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1001.63	34	chr19	38408781	.	G	A	1001.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.95;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=1.15;SOR=0.737	GT:AD:DP:GQ:PL	0/1:52,40:92:99:1012,0,1155	6	0	1	0
chr19	42356932	42356932	G	A	exonic	MEGF8	.	nonsynonymous SNV	MEGF8:NM_001410:exon26:c.G4580A:p.R1527H,MEGF8:NM_001271938:exon27:c.G4781A:p.R1594H	Carpenter syndrome 2, Autosomal recessive	427	1070	24	1	0	26	0.0120037	.	.	.	689093	not_provided|MEGF8-related_Carpenter_syndrome	MedGen:C3661900|MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.256	.	0.0005	0.00159744	0.0026	0.0001	0.0013	0.0002	0	0.0011	0.0017	0.0134	0.0016947	262	154602	rs141153248	0.0012	0.0012	0.0009	0.0016	0.0105	0.0012	0.0012	0.0099	0.0097	0.0002	0.0007	0.0013	2.524e-05	3.767e-05	0.0056	0.0006	0.0018	0.0105	0.0008	0.0008	0.0008	0.0008	0.0089	0.0007	0.0006	0.0068	0.0061	0.0002	0	0.0007	0.0009	0.0002	9.413e-05	0.0034	0.0007	0.0019	0.0089	0.143	0.29823	T	0.084	0.41239	T	0.983	0.68779	D	0.674	0.53247	P	0.187750	0.16930	N	0.566253	0.972712	0.25586	N	0.345	0.11182	N	0.02	0.62318	T	-1.41	0.35399	N	0.376	0.41853	-0.8539	0.51696	T	0.170	0.51085	T	10	0.009688765	0.00218	T	.	.	.	0.256	0.56694	.	.	0.279809986126	0.27602	0.32000660293560446	0.31913	1.05125465116	0.76159	0.461723268032	0.33547	T	0.090227	0.38540	T	-0.399944	0.02317	T	-0.337873	0.40585	T	0.0136652380643093	0.00254	T	0.674133	0.28269	T	0.034723204	0.03952	0.032070026	0.01886	0.031214708	0.02919	0.037747607	0.03493	-6.967	0.53792	T	.	.	0.095	0.15025	B	.;.	.;.	3.787117	0.54485	23.5	0.99895656136967415	0.96895	0.64004	0.32268	D	AEFBI	0.109442	0.21737	N	0.0566823352534436	0.44451	2.718874	0.107243054330615	0.44917	2.764371	0.0408702364229687	0.14459	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.32	4.29	0.50359	2.516000	0.45181	3.993000	0.41005	-0.106000	0.15538	0.902000	0.31475	1.000000	0.68203	0.981000	0.58702	0.1697:0.1602:0.6701:0.0	5.825	0.17806	551	0.72115	.;.	.	.	.	.	.	Likely benign	0	0	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	0.010595	0.000000	0.005435	0.005848	0.000000	0.008621	0.033951	0.011364	0.1429	2128.32	33	chr19	42356932	.	G	A	2128.32	.	AC=2;AF=0.143;AN=14;DP=252;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.38;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2149,225,0	6	1	0	0
chr19	43996525	43996525	A	T	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon5:c.A668T:p.Q223L,ZNF155:NM_001260487:exon5:c.A668T:p.Q223L,ZNF155:NM_003445:exon5:c.A668T:p.Q223L,ZNF155:NM_198089:exon5:c.A668T:p.Q223L,ZNF155:NM_001260488:exon6:c.A701T:p.Q234L	.	419	1050	49	4	0	57	0.0264256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0049	0.00519169	0.0063	0.0062	0.0062	0	0.0003	0.0047	0.0044	0.0184	0.0056209	869	154602	rs62640893	0.0041	0.0041	0.0035	0.0047	0.0199	0.0040	0.0040	0.0191	0.0188	0.0064	0.0055	0.0411	2.519e-05	0.0003	0.0160	0.0020	0.0066	0.0199	0.0053	0.0053	0.0050	0.0057	0.0168	0.0050	0.0049	0.0138	0.0127	0.0074	0	0.0084	0.0374	0	9.411e-05	0.0136	0.0021	0.0066	0.0168	0.084	0.32929	T	0.087	0.41742	T	0.981	0.59675	D	0.905	0.64260	P	.	.	.	.	0.997188	0.22759	N	0.18	0.09070	N	3.42	0.05507	T	-4.18	0.75615	D	0.116	0.13769	-1.0267	0.21527	T	0.039	0.16849	T	9	0.004463047	0.00092	T	.	.	.	0.030	0.07022	.	.	0.31077124679	0.30691	0.030600505512641492	0.03009	0.0959658060652	0.10830	0.27735710144	0.07127	T	0.042552	0.26220	T	-0.615684	0.00117	T	-0.642884	0.09460	T	0.051471745858201	0.05757	T	0.20468	0.02388	T	0.06652734	0.14321	0.08079469	0.18306	0.06652734	0.14321	0.08079469	0.18306	-5.602	0.42810	T	.	.	0.177	0.42375	B	.;.;.;.	.;.;.;.	1.051754	0.14328	10.91	0.99437527373424284	0.64571	0.11856	0.16905	N	AEFBI	0.057234	0.10646	N	-0.680687512903077	0.16572	0.8455478	-0.791843044207809	0.14695	0.7691477	0.00535347471497114	0.10912	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	2.59	1.48	0.21900	0.053000	0.14067	.	.	-0.701000	0.04053	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7917:0.0:0.0:0.2083	6.836	0.23118	620	0.66037	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.030303	0.019022	0.017544	0.000000	0.000000	0.012195	0.022727	0.2143	11429.7	119	chr19	43996525	.	A	T	11429.7	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.665;DP=1240;ExcessHet=0;FS=1.272;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=31.4;ReadPosRankSum=-1.86;SOR=0.588	GT:AD:DP:GQ:PL	1/1:0,351:351:99:11359,1053,0	5	1	1	0
chr19	47260787	47260787	C	A	exonic	CCDC9	.	stopgain	CCDC9:NM_015603:exon5:c.C410A:p.S137X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196192	0.16718	N	0.571207	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.096	0.07673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522349	0.94964	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.351572	0.95064	34	0.97943263427019678	0.37050	0.58690	0.30710	D	AEFDBI	0.072587	0.14491	N	0.131885713314844	0.47955	3.014122	-0.102459162150582	0.35290	2.039995	0.00869962407883374	0.11723	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.32	2.27	0.27501	0.657000	0.24647	1.667000	0.27933	-0.275000	0.06596	0.028000	0.20300	0.004000	0.18990	0.015000	0.10482	0.0:0.8826:0.0:0.1174	8.805	0.34093	660	0.61921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	53.63	35	chr19	47260787	.	C	A	53.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.512;DP=225;ExcessHet=0;FS=31.793;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=1.17;SOR=5.549	GT:AD:DP:GQ:PL	0/1:34,15:49:64:64,0,721	6	0	1	0
chr19	48320349	48320349	G	A	exonic	CCDC114	.	nonsynonymous SNV	CCDC114:NM_001364171:exon3:c.C20T:p.A7V	Ciliary dyskinesia, primary, 20, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1054075697	8.799e-07	4.104e-06	1.727e-06	0	1.087e-06	0	0	.	.	0	0	0	0	0	0	1.087e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	32.7	3	chr19	48320349	.	G	A	32.7	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-1.383;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,72	1	0	1	5
chr19	50276849	50276849	G	A	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon27:c.G3650A:p.R1217H,MYH14:NM_001077186:exon28:c.G3674A:p.R1225H,MYH14:NM_001145809:exon29:c.G3773A:p.R1258H	Deafness, autosomal dominant 4A, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	3983342	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.464	0.193411197089	.	.	2.564e-05	0	0	0	0	1.557e-05	0	0.0001	1.94e-05	3	154602	rs771510184	1.176e-05	1.163e-05	9.637e-06	1.39e-05	8.135e-05	7.16e-06	5.86e-06	3.773e-05	2.667e-05	0	0	0	0	0.0001	0	2.716e-06	1.688e-05	8.135e-05	1.324e-05	1.318e-05	1.294e-05	1.356e-05	0.0002	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0	0	0.0005	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.987	0.61912	D	0.761	0.60472	P	.	.	.	.	0.518695	0.31879	D	1.24	0.30952	L	-1.27	0.79277	T	-3.24	0.65171	D	0.292	0.38027	0.057	0.83373	D	0.457	0.78854	T	9	0.38465258	0.54450	T	0.193411	0.86302	D	0.464	0.76023	0.604	0.73586	0.627990925464	0.62495	0.18943973455174304	0.18861	0.540324238068	0.51227	0.632260799408	0.57466	T	0.658079	0.89705	D	-0.0746953	0.40573	T	-0.248217	0.49993	T	0.659038989926019	0.38853	D	0.983335	0.94463	D	0.16000329	0.35911	0.19495559	0.43147	0.16000329	0.35911	0.19495559	0.43146	-12.884	0.88921	D	0.6886752300152733	0.76608	0.132	0.35705	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.188490	0.87016	29.1	0.99944033492051199	0.99868	0.77353	0.38023	D	AEFDBHCI	0.357859	0.44874	N	0.235904148014727	0.52945	3.465835	0.198496273341694	0.49764	3.175847	0.999046901701961	0.38290	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.35	3.35	0.37468	1.085000	0.30452	1.520000	0.27085	0.584000	0.30380	0.994000	0.38300	0.010000	0.20010	0.982000	0.59238	0.0:0.0:1.0:0.0	12.579	0.55730	744	0.52588	.;.;Myosin tail;.;.;Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2815.27	33	chr19	50276849	.	G	A	2815.27	.	AC=2;AF=0.143;AN=14;DP=271;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.27;SOR=1.44	GT:AD:DP:GQ:PL	1/1:0,93:93:99:2836,278,0	6	1	0	0
chr19	51746559	51746559	T	C	exonic	FPR1	.	nonsynonymous SNV	FPR1:NM_002029:exon2:c.A436G:p.I146V,FPR1:NM_001193306:exon3:c.A436G:p.I146V	.	.	.	.	.	.	.	.	.	.	.	3171625	Gingival_disorder|not_specified	MONDO:MONDO:0002021,MedGen:C0017563|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0106106838152	.	.	5.767e-05	0	0	0.0008	0	0	0	0	4.53e-05	7	154602	rs756459168	6.841e-06	6.84e-06	6.806e-06	6.875e-06	0.0003	3.46e-06	2.52e-06	0.0001	0.0001	0	0	0	0.0003	0	0	0	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0004	2.19e-06	8.2e-07	6.813e-05	2.852e-05	0	0	0	0	0.0004	0	0	0	0	0	0.422	0.09776	T	1.0	0.01155	T	0.053	0.22573	B	0.085	0.29395	B	0.048202	0.23273	N	0.400535	0.994779	0.23445	N	1.475	0.37068	L	-0.84	0.74265	T	0.02	0.06739	N	0.018	0.00252	-0.9529	0.40468	T	0.172	0.51484	T	10	0.16599911	0.31012	T	0.010611	0.27345	T	0.173	0.43840	0.774	0.90002	0.587297536726	0.58404	0.38412873956227883	0.38327	0.273506257707	0.29848	0.317508012056	0.13043	T	0.050815	0.28703	T	-0.412801	0.01904	T	-0.44752	0.27971	T	0.0439304533764529	0.04408	T	0.647135	0.25820	T	0.056459147	0.11112	0.051312342	0.08232	0.056459147	0.11112	0.051312342	0.08232	-3.208	0.12579	T	.	.	0.108	0.22391	B	.;.;.	.;.;.	0.435442	0.08059	4.780	0.61810473001100164	0.06803	0.05502	0.11389	N	AEFBI	0.092246	0.18677	N	-0.82161736313395	0.12758	0.6239719	-0.765901362769023	0.15333	0.8058361	0.901431601168956	0.26101	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.66	2.63	0.30420	0.154000	0.16160	.	.	0.645000	0.52629	0.000000	0.06391	0.001000	0.17328	0.179000	0.21265	0.0:0.2545:0.0:0.7455	4.243	0.10112	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	171.34	95	chr19	51746559	.	T	C	171.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.678;DP=911;ExcessHet=0.3476;FS=166.15;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=-0.185;SOR=8.595	GT:AD:DP:GQ:PL	0/1:123,41:164:99:131,0,2629	5	0	2	0
chr19	52384826	52384826	-	GTGAAAC	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1246_1247insGTGAAAC:p.A416Gfs*5	.	475	1021	5	0	21	26	0.0024426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0	0.0004	0	0.0004	0	0.0003	3.84e-05	1	26028	rs754636078	0.0030	0.0085	0.0028	0.0033	0.0147	0.0030	0.0029	0.0139	0.0135	0.0028	0.0044	0.0043	0.0025	0.0030	0.0039	0.0021	0.0040	0.0147	0.0017	0.0062	0.0019	0.0014	0.0040	0.0014	0.0013	0.0019	0.0016	0.0010	0.0021	0.0013	0.0031	0.0010	0.0009	0	0.0021	0.0030	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	71.7	35	chr19	52384826	.	G	GGTGAAAC	71.7	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.492;DP=280;ExcessHet=0;FS=5.598;MLEAC=1;MLEAF=0.125;MQ=57.82;MQRankSum=-4.135;QD=2.17;ReadPosRankSum=-2.595;SOR=2.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,4:33:79:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:79,0,1197:52384817	3	0	1	3
chr19	52801003	52801003	C	T	exonic	ZNF28	.	nonsynonymous SNV	ZNF28:NM_001369762:exon3:c.G683A:p.G228D,ZNF28:NM_001369763:exon4:c.G833A:p.G278D,ZNF28:NM_001369764:exon4:c.G800A:p.G267D,ZNF28:NM_006969:exon4:c.G842A:p.G281D,ZNF28:NM_001369765:exon5:c.G734A:p.G245D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000537088295201	0.0005	0.000399361	0.0008	0	0	0	0	0.0009	0	0.0021	0.0006727	104	154602	rs145673349	0.0006	0.0006	0.0005	0.0006	0.0018	0.0005	0.0005	0.0015	0.0014	0.0001	0	3.826e-05	0	0.0003	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0004	0.0005	0.0017	0.0004	0.0003	0.0008	0.0006	4.818e-05	0	0.0001	0	0.0002	0.0004	0	0.0007	0	0.0017	0.091	0.40319	T	0.197	0.34477	T	0.085	0.24868	B	0.091	0.29943	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	2.46	0.18083	T	-0.97	0.31576	N	0.084	0.06059	-0.9752	0.36082	T	0.025	0.10643	T	9	0.007866472	0.00179	T	5.37E-4	0.00196	T	0.003	0.00094	.	.	0.0884992946249	0.08302	0.01421655497026517	0.01378	0.0576419736178	0.06386	0.356519758701	0.18878	T	0.019422	0.15476	T	-0.71765	0.00029	T	-0.810895	0.01645	T	0.0107909258104284	0.00153	T	0.258474	0.08382	T	0.03966939	0.05521	0.06329317	0.12517	0.03966939	0.05521	0.06329317	0.12517	-5.564	0.42462	T	.	.	0.248	0.55243	B	.;.;.	.;.;.	-0.356190	0.02382	0.263	0.6872395974402109	0.08747	0.00572	0.02591	N	AEFBCI	0.020703	0.00845	N	-1.39250366065193	0.02708	0.119946	-1.54911949624795	0.01982	0.09053529	0.00295616972720036	0.09827	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.47	-2.94	0.05245	-2.964000	0.00736	.	.	-1.377000	0.01163	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.463:0.2073:0.3297	3.713	0.07958	976	0.04745	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	5805.22	103	chr19	52801003	.	C	T	5805.22	.	AC=2;AF=0.143;AN=14;DP=577;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=33.36;SOR=0.813	GT:AD:DP:GQ:PL	1/1:0,174:174:99:5826,523,0	6	1	0	0
chr19	54278958	54278958	C	G	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.G461C:p.R154P,LILRB2:NM_001278405:exon5:c.G809C:p.R270P,LILRB2:NM_001278406:exon5:c.G809C:p.R270P,LILRB2:NM_001080978:exon6:c.G809C:p.R270P,LILRB2:NM_001278403:exon6:c.G809C:p.R270P,LILRB2:NM_005874:exon6:c.G809C:p.R270P	.	0	1469	47	0	6	53	0.0157454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.00579073	0.0033	0	0.0005	0.0001	0	1.499e-05	0.0033	0.0234	0.0027943	432	154602	rs141001610	0.0014	0.0014	0.0008	0.0020	0.0218	0.0013	0.0013	0.0209	0.0206	5.974e-05	2.237e-05	0	5.042e-05	0	0.0012	1.799e-05	0.0015	0.0218	0.0007	0.0007	0.0003	0.0011	0.0208	0.0006	0.0005	0.0175	0.0162	4.812e-05	0	6.537e-05	0	0	0	0	1.471e-05	0	0.0208	0.074	0.34621	T	0.114	0.37173	T	.	.	.	.	.	.	0.002460	0.00890	N	3.309270	1	0.08975	N	.	.	.	5.79	0.00674	T	-3.39	0.67941	D	0.177	0.19190	-0.8969	0.48302	T	0.003	0.00864	T	10	0.0043610334	0.00089	T	.	.	.	0.047	0.12962	0.533	0.64148	0.181679512989	0.17746	0.18442671996020282	0.18361	0.0643675075442	0.07174	0.337208449841	0.16020	T	.	.	.	-0.600448	0.00145	T	-0.618358	0.11314	T	0.0224452537515118	0.00959	T	0.407159	0.10452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.37331	B	.;.;.;.;.	.;.;.;.;.	0.018576	0.04412	1.150	0.9349383754393864	0.23297	0.00496	0.02345	N	AEFDBI	0.147624	0.27134	N	-1.1535646601175	0.05721	0.2615741	-1.25471504496188	0.05062	0.2402868	0.999954743047432	0.48110	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.81	-1.39	0.08526	-2.154000	0.01372	.	.	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2971:0.3746:0.0:0.3284	1.702	0.02701	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.07143	5287.44	78	chr19	54278958	.	C	G	5287.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.341;DP=739;ExcessHet=0;FS=1.404;MLEAC=1;MLEAF=0.071;MQ=59.07;MQRankSum=2.72;QD=18.05;ReadPosRankSum=0.557;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,138:293:99:0|1:54278957_C_T:5298,0,6076:54278957	6	0	1	0
chr19	54337012	54337012	G	C	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon6:c.C1084G:p.H362D	.	5	1308	208	1	0	210	0.07431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00132864260766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.811e-06	0.0096	2.797e-06	2.825e-06	.	6.6e-07	4.4e-07	.	.	0	0	0	0	7.632e-05	0	0	0	0	2.059e-05	0.0042	1.341e-05	2.813e-05	0.0002	5.47e-06	2.52e-06	.	.	2.591e-05	0	0	0	0.0002	0	0	1.515e-05	0	0	0.438	0.09319	T	0.431	0.13673	T	.	.	.	.	.	.	0.000037	0.00348	N	4.946150	1	0.08975	N	.	.	.	4.17	0.02767	T	-0.71	0.20145	N	0.221	0.24758	-0.9501	0.40955	T	0.006	0.01944	T	10	0.062004	0.07861	T	0.001329	0.01885	T	0.047	0.12962	0.626	0.76141	0.0611884634855	0.05136	0.25968181529115286	0.25882	0.104041796668	0.11770	0.278527855873	0.07288	T	.	.	.	-0.360524	0.04100	T	-0.755644	0.03271	T	0.0725965366041935	0.09010	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11027	B	.	.	-1.576456	0.00252	0.004	0.34773576372039655	0.02146	0.00354	0.01821	N	AEFDBHCI	0.024273	0.01477	N	-2.30271407116855	0.00045	0.001924218	-2.42840930346014	0.00034	0.001487296	0.999812918144341	0.43459	0.428477	0.06694	0	0.187218	0.04217	2	0.315538	0.05692	2	0.613276	0.41899	0	.	.	2.51	-5.02	0.02759	-6.688000	0.00071	.	.	-2.613000	0.00232	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2159:0.4137:0.1634:0.207	2.137	0.03536	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	.	.	.	.	.	.	.	.	0.07143	39.64	231	chr19	54337012	.	G	C	39.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.09;DP=1009;ExcessHet=0;FS=28.503;MLEAC=1;MLEAF=0.071;MQ=58.84;MQRankSum=-14.7;QD=0.1;ReadPosRankSum=-4.194;SOR=5.415	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,28:402:50:0|1:54336979_C_A:50,0,15620:54336979	6	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	.	.	.	.	.	.	.	.	0.4286	5690.48	294	chr19	54739533	.	C	A	5690.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.49;DP=1770;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=55.69;MQRankSum=1.86;QD=3.35;ReadPosRankSum=1.3;SOR=0.752	GT:AD:DP:GQ:PL	0/1:248,85:333:99:1325,0,6436	1	0	6	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5890.45	371	chr19	54847203	.	T	*	5890.45	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.441;DP=2058;ExcessHet=3.6764;FS=2.419;MLEAC=3;MLEAF=0.214;MQ=59.3;MQRankSum=-3.065;QD=2.96;ReadPosRankSum=0.299;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,58:284:99:0|1:54847190_C_T:1730,0,9295:54847190	4	0	3	0
chr19	54847204	54847204	G	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	370	1128	13	0	11	24	0.0057294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	95.23	371	chr19	54847204	.	G	*	95.23	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.998;DP=2017;ExcessHet=0.3476;FS=0.516;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=1.19;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,58:284:99:0|1:54847190_C_T:1730,0,9295:54847190	3	0	1	3
chr19	55198700	55198700	C	T	exonic	PTPRH	.	nonsynonymous SNV	PTPRH:NM_001161440:exon6:c.G1099A:p.V367I,PTPRH:NM_002842:exon8:c.G1633A:p.V545I	.	429	1065	27	1	0	29	0.0134321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.015430059832	0.0006	0.000599042	0.0012	0.0004	0.0009	0.0001	0	0.0009	0.0011	0.0041	0.0010414	161	154602	rs142378567	0.0007	0.0007	0.0005	0.0008	0.0047	0.0006	0.0006	0.0033	0.0032	0.0004	0.0006	0.0114	7.559e-05	0	0.0047	0.0002	0.0015	0.0037	0.0008	0.0008	0.0009	0.0007	0.0031	0.0007	0.0007	0.0019	0.0015	0.0008	0	0.0005	0.0112	0.0002	0	0	0.0004	0.0019	0.0031	0.086	0.32610	T	0.226	0.25438	T	0.986	0.61523	D	0.729	0.55225	P	.	.	.	.	1	0.08975	N	1.775	0.45938	L	-0.51	0.70597	T	-0.14	0.09965	N	0.047	0.05287	-0.8358	0.52924	T	0.228	0.59346	T	9	0.0071885884	0.00163	T	0.01543	0.36156	T	0.206	0.49396	.	.	0.0611884634855	0.05136	0.09783124660389077	0.09714	0.234739043338	0.26012	0.280451714993	0.07555	T	0.001211	0.00709	T	-0.451213	0.01111	T	-0.423019	0.30729	T	0.0178351213803535	0.00511	T	0.548145	0.22252	T	0.015775437	0.00157	0.04808923	0.07070	0.015775437	0.00157	0.04808923	0.07069	-7.693	0.61390	D	.	.	0.088	0.16929	B	.;.	.;.	0.557200	0.09259	6.040	0.82769267252268963	0.14365	0.00173	0.01021	N	AEFBCI	0.056771	0.10521	N	-1.03261698007974	0.07932	0.370237	-1.27669512472212	0.04747	0.2246432	0.0279614918543976	0.13804	0.554377	0.28877	0	0.563428	0.19063	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	2.27	-4.27	0.03486	-0.203000	0.09440	-4.701000	0.02026	-0.276000	0.06580	0.000000	0.06391	0.000000	0.08366	0.120000	0.19168	0.0:0.3234:0.2011:0.4755	3.657	0.07761	988	0.01987	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	0.003525	0.000000	0.001359	0.008772	0.000000	0.008621	0.000000	0.007576	0.07143	1222.53	34	chr19	55198700	.	C	T	1222.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=262;ExcessHet=0;FS=1.878;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-1.599;SOR=1.007	GT:AD:DP:GQ:PL	0/1:32,49:81:99:1233,0,657	6	0	1	0
chr19	55973721	55973721	G	T	exonic	NLRP8	.	nonsynonymous SNV	NLRP8:NM_001317000:exon7:c.G2547T:p.M849I,NLRP8:NM_176811:exon7:c.G2604T:p.M868I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00229037520866	.	0.000199681	0.0004	0	8.639e-05	0	0	0	0	0.0031	0.0003493	54	154602	rs541343038	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0	0	0	0	0	0.0003	0	0.0002	0.0031	8.537e-05	8.531e-05	3.855e-05	0.0001	0.0025	4.955e-05	3.961e-05	0.0014	0.0011	2.407e-05	0	0	0	0	0	0	0	0	0.0025	0.077	0.34095	T	0.12	0.35970	T	0.068	0.34547	B	0.034	0.41566	B	.	.	.	.	1	0.08975	N	-0.075	0.04822	N	0.68	0.51952	T	-1.77	0.41809	N	0.227	0.25499	-1.0001	0.29888	T	0.068	0.27980	T	9	0.013709068	0.00290	T	0.00229	0.04397	T	0.022	0.04323	0.35	0.34760	0.143124449307	0.13826	0.11577117255924183	0.11505	0.118506988283	0.13345	0.360510885715	0.19461	T	0.003617	0.03020	T	-0.598938	0.00148	T	-0.635845	0.09975	T	0.0571791941718412	0.06718	T	0.492351	0.15167	T	0.14177988	0.32655	0.133617	0.32036	0.14177988	0.32654	0.133617	0.32036	-3.633	0.18335	T	.	.	0.286	0.54696	B	.;.	.;.	0.551517	0.09200	5.984	0.90529751048139184	0.19786	0.01352	0.04636	N	AEFDBCI	0.022832	0.01191	N	-1.16867687831218	0.05479	0.2499008	-1.31424140437932	0.04245	0.199831	8.24287343348313E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.04	-3.26	0.04750	-2.394000	0.01132	-0.342000	0.09808	0.573000	0.29008	0.000000	0.06391	0.000000	0.08366	0.070000	0.16646	0.1433:0.3857:0.2751:0.1959	1.607	0.02523	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1576.45	33	chr19	55973721	.	G	T	1576.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.581;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.855;SOR=0.669	GT:AD:DP:GQ:PL	0/1:53,69:122:99:1587,0,1226	6	0	1	0
chr19	56027647	56027647	G	A	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.G1414A:p.A472T	.	429	1075	17	1	0	19	0.0087598	.	.	.	716699	NLRP5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0036	0.00658946	0.0053	0.0058	0.0030	0	0	0.0029	0.0033	0.0213	0.0049353	763	154602	rs138053847	0.0043	0.0043	0.0038	0.0048	0.0216	0.0042	0.0042	0.0207	0.0204	0.0063	0.0022	0.0004	2.519e-05	0.0003	0.0033	0.0034	0.0045	0.0216	0.0040	0.0040	0.0038	0.0042	0.0191	0.0037	0.0036	0.0159	0.0147	0.0060	0.0165	0.0024	0.0003	0.0002	0	0	0.0030	0.0038	0.0191	0.596	0.05703	T	0.218	0.26066	T	0.734	0.42776	P	0.156	0.34472	B	0.170130	0.03104	N	1.955820	1	0.08975	N	0.55	0.14455	N	-0.69	0.72678	T	-0.31	0.12099	N	0.116	0.11340	-0.9232	0.45112	T	0.116	0.40986	T	10	0.0054012835	0.00119	T	.	.	.	0.108	0.30607	.	.	0.335661160332	0.33175	0.12466704048598752	0.12392	0.0220801985691	0.02212	0.188550025225	0.00200	T	0.062841	0.32021	T	-0.531602	0.00376	T	-0.520791	0.20215	T	0.0106503735744448	0.00149	T	0.570043	0.20293	T	0.023743112	0.01140	0.037205417	0.03324	0.023743112	0.01140	0.037205417	0.03324	-5.311	0.40052	T	.	.	0.097	0.15654	B	.;.	.;.	-0.870174	0.00977	0.039	0.87840626277462941	0.17521	0.00258	0.01414	N	AEFDBI	0.017920	0.00505	N	-1.35429293064307	0.03081	0.1370572	-1.56594203968662	0.01868	0.08516214	0.00234955334658641	0.09341	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.82	-5.63	0.02276	-3.609000	0.00465	-6.271000	0.01446	-0.246000	0.07238	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6778:0.0:0.1761:0.1461	6.094	0.19232	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	0.005035	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.018939	0.08333	1931.27	73	chr19	56027647	.	G	A	1931.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.69;DP=535;ExcessHet=0;FS=8.258;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=1.81;SOR=1.164	GT:AD:DP:GQ:PL	0/1:78,76:154:99:1941,0,1806	5	0	1	1
chr19	57399635	57399635	G	A	exonic	ZNF548	.	nonsynonymous SNV	ZNF548:NM_152909:exon3:c.G1348A:p.E450K,ZNF548:NM_001172773:exon4:c.G1384A:p.E462K	.	413	1099	10	0	0	10	0.00452899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00265047817399	0.0017	0.000599042	0.0015	0.0007	0.0003	0	0.0002	0.0018	0.0011	0.0028	0.0013713	212	154602	rs199946339	0.0015	0.0015	0.0015	0.0016	0.0037	0.0015	0.0015	0.0033	0.0032	0.0003	0.0002	3.826e-05	0	0.0001	0.0028	0.0016	0.0015	0.0037	0.0009	0.0009	0.0009	0.0009	0.0025	0.0008	0.0007	0.0014	0.0011	0.0004	0	0.0007	0	0	0	0	0.0014	0.0009	0.0025	0.11	0.31532	T	0.103	0.38305	T	0.469	0.36524	P	0.056	0.26147	B	.	.	.	.	1	0.08975	N	0.2	0.09183	N	2.16	0.19166	T	-2.2	0.51968	N	0.143	0.17828	-1.0160	0.25013	T	0.017	0.06807	T	9	0.007980734	0.00181	T	0.00265	0.05406	T	0.073	0.21317	.	.	0.128392430309	0.12331	0.11648174416651406	0.11576	0.66540836955	0.59140	0.291519969702	0.09144	T	0.115586	0.43429	T	-0.600571	0.00145	T	-0.638506	0.09778	T	0.0247555813381665	0.01240	T	0.380262	0.09387	T	0.111696035	0.26394	0.14641881	0.34689	0.111696035	0.26393	0.14641881	0.34689	-5.515	0.42008	T	.	.	0.129	0.29228	B	.;.	.;.	2.321458	0.29724	18.21	0.99739446416378774	0.83409	0.03384	0.08490	N	AEFGBCI	0.061247	0.11695	N	-0.921735874098398	0.10335	0.4933596	-0.945540936247283	0.11027	0.5592307	0.173932436500725	0.17776	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	2.26	1.22	0.20300	-2.592000	0.00972	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.2913:0.0:0.4527:0.2561	2.159	0.03587	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	2112.45	38	chr19	57399635	.	G	A	2112.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.04;DP=347;ExcessHet=0;FS=1.305;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.119;SOR=0.721	GT:AD:DP:GQ:PL	0/1:68,77:145:99:2123,0,1672	6	0	1	0
chr19	58480635	58480635	G	A	exonic	ZNF446	.	nonsynonymous SNV	ZNF446:NM_017908:exon7:c.G1262A:p.R421Q	.	423	1098	1	0	0	1	0.000455166	.	.	.	2339453	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.0578439369743	.	0.000399361	0.0001	0	0.0003	0	0	7.948e-05	0.0012	0.0002	0.00011	17	154602	rs140471976	0.0001	0.0001	0.0001	0.0001	0.0021	0.0001	0.0001	0.0012	0.0009	0.0004	0.0005	3.829e-05	2.52e-05	0	0.0021	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0005	7.106e-05	5.759e-05	0.0002	0.0002	4.833e-05	0	0.0005	0	0	0	0	5.889e-05	0.0019	0	.	.	.	0.022	0.58613	D	0.988	0.62325	D	0.927	0.66185	D	0.002899	0.35770	N	0.000000	0.839413	0.28651	N	2.44	0.70756	M	2.12	0.19726	T	.	.	.	0.208	0.24634	-0.8195	0.53965	T	0.238	0.60535	T	9	0.044916183	0.03503	T	0.057844	0.67109	D	.	.	.	.	0.130388298395	0.12655	0.1907000733968595	0.18988	0.162519781198	0.18338	0.538793325424	0.44275	T	0.109	0.42251	T	-0.426307	0.01561	T	-0.528171	0.19469	T	0.0984022846692351	0.12181	T	0.762524	0.46176	T	0.14540912	0.33334	0.11786502	0.28451	0.14540912	0.33334	0.11786502	0.28450	-7.323	0.56359	T	.	.	0.418	0.68363	A	.;.;.	.;.;.	2.458210	0.31662	18.81	0.99842122494876451	0.92229	0.27259	0.23227	N	AEFBCI	0.127655	0.24512	N	0.209089960273818	0.51640	3.34358	0.0684496214392303	0.42973	2.608802	0.937765136450437	0.27312	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.2	3.17	0.35510	0.763000	0.26183	0.795000	0.21604	0.676000	0.76740	0.011000	0.18532	0.831000	0.27213	0.979000	0.57723	0.1021:0.1918:0.7061:0.0	6.055	0.19032	906	0.23090	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	1	0	0	0	0	0	0	0.004028	0.005051	0.008152	0.000000	0.050000	0.000000	0.000000	0.000000	0.08333	1129.27	36	chr19	58480635	.	G	A	1129.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.158;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.962;SOR=0.76	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1139,0,986	5	0	1	1
chr20	2861809	2861809	G	A	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_022575:exon10:c.G904A:p.V302M	.	433	1078	10	1	0	12	0.00553506	.	.	.	2339359	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0128958025511	0.0004	.	0.0005	0	0.0007	0	0.0002	0.0007	0	0.0002	0.000414	64	154602	rs149546324	0.0003	0.0003	0.0002	0.0003	0.0055	0.0003	0.0002	0.0040	0.0035	0.0002	0.0005	0.0018	2.519e-05	3.745e-05	0.0055	0.0002	0.0006	0.0002	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0002	0.0004	0.0003	2.406e-05	0	0.0005	0.0012	0	9.413e-05	0.0034	0.0005	0.0005	0.0006	0.043	0.41364	D	0.246	0.35710	T	0.786	0.44460	P	0.397	0.44399	B	0.002422	0.36574	N	0.257891	1	0.81001	D	0.345	0.11182	N	0.96	0.42888	T	-0.28	0.11547	N	0.558	0.58287	-1.0672	0.10039	T	0.101	0.37417	T	10	0.081829876	0.13440	T	0.012896	0.31871	T	0.065	0.18881	.	.	0.530409124356	0.52689	0.3436051846622735	0.34274	0.506917308201	0.48884	0.79377669096	0.81017	T	0.044898	0.26958	T	-0.296419	0.09003	T	-0.311843	0.43460	T	0.0203691348433495	0.00737	T	0.89931	0.65680	D	0.08534625	0.19792	0.09743522	0.23193	0.08534625	0.19792	0.09743522	0.23193	-5.374	0.40669	T	.	.	0.190	0.48365	B	.;.	.;.	3.374506	0.46651	22.3	0.99285583659534349	0.58078	0.90624	0.51955	D	AEFDBI	0.338943	0.43625	N	0.285283146868049	0.55402	3.704286	0.37286356907823	0.59895	4.171624	0.0577910821183677	0.15105	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	2.645000	0.46287	10.016000	0.83115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	14.558	0.67708	475	0.77788	Vps16, N-terminal;Vps16, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004541	0.005051	0.004076	0.005848	0.000000	0.017241	0.006135	0.000000	0.07143	1171.53	33	chr20	2861809	.	G	A	1171.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.149;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.49;SOR=0.676	GT:AD:DP:GQ:PL	0/1:31,47:78:99:1182,0,703	6	0	1	0
chr20	3690252	3690252	G	A	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon18:c.C4604T:p.T1535M,SIGLEC1:NM_023068:exon19:c.C4604T:p.T1535M	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	.	0.00379393	0.0063	0	0	0	0	0	0	0.0140	0.0008861	137	154602	rs369196280	0.0008	0.0008	0.0005	0.0011	0.0116	0.0007	0.0007	0.0110	0.0108	6.334e-05	0	0	2.8e-05	0	0.0002	7.617e-05	0.0010	0.0116	0.0004	0.0004	0.0002	0.0007	0.0126	0.0004	0.0003	0.0101	0.0092	9.621e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0126	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001004	0.40652	N	0.000000	1	0.08975	N	2.625	0.76847	M	1.96	0.22270	T	-1.11	0.28703	N	0.128	0.12198	-1.0358	0.18606	T	0.118	0.41385	T	10	0.009257078	0.00209	T	.	.	.	0.096	0.27654	0.64	0.77687	0.344945010812	0.34105	0.29310788919704484	0.29223	0.155766135501	0.17579	0.358030825853	0.19098	T	0.136197	0.46843	T	-0.475865	0.00782	T	-0.446929	0.28035	T	0.1075565561975	0.13168	T	0.719828	0.33277	T	0.080765925	0.18523	0.16105928	0.37483	0.080765925	0.18522	0.16105928	0.37482	-5.635	0.43111	T	.	.	0.060	0.00890	B	.	.	1.879785	0.23878	16.19	0.99780171150277475	0.86693	0.04048	0.09492	N	AEFBI	0.119452	0.23313	N	-0.154313998560267	0.35050	2.00847	-0.366061476850114	0.26016	1.434376	0.00544930785655439	0.10940	0.403107	0.06075	0	0.547309	0.14657	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.48	1.37	0.21200	-0.170000	0.09886	-0.512000	0.08740	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.3334:0.0:0.6666:0.0	7.699	0.27779	716	0.55970	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003747	0.000000	0.000000	0.000000	0.000000	0.009804	0.006623	0.004065	0.07143	831.49	27	chr20	3690252	.	G	A	831.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.422;DP=238;ExcessHet=0;FS=3.42;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.013;SOR=0.38	GT:AD:DP:GQ:PL	0/1:29,36:65:99:842,0,673	6	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	869.31	70	chr20	3803192	.	G	C	869.31	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.474;DP=561;ExcessHet=3.1439;FS=207.23;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.22;ReadPosRankSum=1.8;SOR=10.505	GT:AD:DP:GQ:PL	0/1:61,36:105:99:132,0,1028	1	0	4	2
chr20	4699380	4699380	G	A	exonic	PRNP	.	nonsynonymous SNV	PRNP:NM_000311:exon2:c.G160A:p.G54S,PRNP:NM_001080121:exon2:c.G160A:p.G54S,PRNP:NM_001080122:exon2:c.G160A:p.G54S,PRNP:NM_001080123:exon2:c.G160A:p.G54S,PRNP:NM_001271561:exon2:c.G71A:p.R24Q,PRNP:NM_183079:exon2:c.G160A:p.G54S	Cerebral amyloid angiopathy, PRNP-related, Autosomal dominant;Creutzfeldt-Jakob disease, Autosomal dominant;Gerstmann-Straussler disease, Autosomal dominant;Huntington disease-like 1, Autosomal dominant;Insomnia, fatal familial, Autosomal dominant;Prion disease with protracted course, Autosomal dominant	7	1485	22	1	7	31	0.00801603	.	.	YES	345429	not_provided|Inherited_prion_disease|Huntington_disease-like_1	MedGen:C3661900|MedGen:C5679775,Orphanet:280400|MONDO:MONDO:0011299,MedGen:C1864112,OMIM:603218,Orphanet:157941	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.578	0.276315076928	.	.	0.0007	0	8.697e-05	0	0	0.0001	0.0022	0.0041	0.0005175	80	154602	rs763524380	0.0004	0.0004	0.0003	0.0006	0.0042	0.0004	0.0004	0.0038	0.0037	0	8.973e-05	0	0	3.753e-05	0.0032	0.0002	0.0008	0.0042	0.0002	0.0002	0.0001	0.0003	0.0027	0.0001	0.0001	0.0016	0.0013	2.416e-05	0	6.581e-05	0	0.0002	0	0.0034	0.0002	0.0009	0.0027	0.002	0.72154	D	0.003	0.76473	D	0.12	0.26678	B	0.086	0.29521	B	0.000002	0.62929	D	0.000000	0.851523	0.35231	D	.	.	.	-2.66	0.91533	D	-2.39	0.52612	N	0.627	0.64137	0.864	0.95202	D	0.793	0.92973	D	10	0.015181363	0.00319	T	0.276315	0.90068	D	0.578	0.82968	.	.	0.994981216392	0.99493	0.4151728927211903	0.41433	0.506295194007	0.48840	0.59368956089	0.52014	T	0.024639	0.18578	T	-0.0232946	0.48383	T	0.193755	0.82780	D	0.0497981607129204	0.05466	T	0.887611	0.81824	D	0.30855614	0.53660	0.32669327	0.58574	0.295937	0.52538	0.33873442	0.59647	-5.95	0.45859	T	0.2822885792093093	0.37778	0.107	0.20819	B	.;.;.;.	.;.;.;.	3.568541	0.50251	22.9	0.99748844167951156	0.84077	0.77247	0.37959	D	AEFDBCI	0.350790	0.44411	N	0.160477855790113	0.49309	3.132762	0.23940818324189	0.52048	3.382491	0.999995817831404	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	2.567000	0.45619	6.955000	0.57037	0.676000	0.76740	0.746000	0.29090	1.000000	0.68203	0.784000	0.37066	0.0:0.0:1.0:0.0	14.189	0.65167	946	0.12043	.;.;.;.	.	.	.	.	.	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	0.003525	0.000000	0.002717	0.002924	0.000000	0.000000	0.012195	0.000000	0.1429	2924.65	34	chr20	4699380	.	G	A	2924.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.67;DP=428;ExcessHet=0.3476;FS=2.505;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.088;SOR=0.892	GT:AD:DP:GQ:PL	0/1:58,68:126:99:2044,0,1557	5	0	2	0
chr20	23085792	23085792	T	C	exonic	CD93	.	nonsynonymous SNV	CD93:NM_012072:exon1:c.A401G:p.N134S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00280635937484	.	0.000599042	0.0004	0	0	0	0	0.0002	0	0.0021	0.000304	47	154602	rs527569700	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	0	0	0	0	0	0.0005	7.915e-05	0.0002	0.0015	0.0001	0.0001	9.002e-05	0.0001	0.0015	7.58e-05	6.284e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0.0005	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	0.888146	0.07278	N	1.050840	1	0.08975	N	-0.02	0.05091	N	2.18	0.18875	T	0.11	0.05706	N	0.045	0.01740	-0.9506	0.40868	T	0.024	0.10419	T	10	0.006688416	0.00152	T	0.002806	0.05840	T	0.034	0.08419	.	.	0.209622950755	0.20551	0.17532318483375042	0.17451	0.0604135776628	0.06713	0.359892547131	0.19369	T	0.053774	0.29538	T	-0.759809	0.00015	T	-0.87742	0.00676	T	0.0247528697894958	0.01240	T	0.510949	0.16331	T	0.024855565	0.01359	0.023819963	0.00395	0.024855565	0.01359	0.023819963	0.00395	-2.131	0.03719	T	.	.	0.059	0.00730	B	.	.	-1.650584	0.00216	0.003	0.48227415200710261	0.04007	0.03510	0.08688	N	AEFDBCIJ	0.072732	0.14526	N	-1.59872598363266	0.01270	0.05530257	-1.62559588686055	0.01507	0.06823106	0.999998923881084	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.56214	0.19341	0	.	.	5.49	-5.46	0.02404	-3.674000	0.00445	-11.424000	0.00606	-1.520000	0.01005	0.000000	0.06391	0.000000	0.08366	0.401000	0.26804	0.0977:0.3133:0.179:0.41	2.761	0.04980	892	0.26670	C-type lectin-like|C-type lectin-like|C-type lectin-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	.	.	.	.	.	.	.	.	0.07143	672.53	21	chr20	23085792	.	T	C	672.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.238;DP=221;ExcessHet=0;FS=3.885;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-2.568;SOR=1.364	GT:AD:DP:GQ:PL	0/1:27,29:56:99:683,0,667	6	0	1	0
chr20	23364697	23364697	G	A	exonic	GZF1	.	nonsynonymous SNV	GZF1:NM_001317019:exon1:c.G314A:p.R105Q,GZF1:NM_022482:exon2:c.G314A:p.R105Q,GZF1:NM_001317012:exon3:c.G314A:p.R105Q	.	.	.	.	.	.	.	.	.	.	.	1479835	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.0649592010332	.	.	9.062e-05	0	0.0002	0.0001	0	1.499e-05	0	0.0004	7.12e-05	11	154602	rs749264121	2.599e-05	2.599e-05	9.529e-06	4.263e-05	0.0004	1.932e-05	1.692e-05	0.0003	0.0002	0	6.708e-05	0	0	0	0	8.993e-07	1.656e-05	0.0004	3.281e-05	3.281e-05	1.284e-05	5.368e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.992e-05	0	0	6.535e-05	0	0.0002	0	0	0	0	0.0006	0.019	0.50132	D	0.014	0.62352	D	0.233	0.30696	B	0.035	0.22741	B	0.000055	0.53742	D	0.000000	1	0.81001	D	0.265	0.09922	N	-0.22	0.66474	T	-1.29	0.32387	N	0.573	0.60918	-0.8932	0.48650	T	0.132	0.44288	T	10	0.21139255	0.37565	T	0.064959	0.69436	D	0.138	0.37187	0.446	0.50466	0.62768934338	0.62464	0.5573782407134409	0.55664	1.61574220227	0.89002	0.450717389584	0.32042	T	0.115756	0.43459	T	-0.23985	0.15368	T	-0.28198	0.46601	T	0.121569046139116	0.14582	T	0.877812	0.59215	D	0.3945648	0.60354	0.24000685	0.49364	0.3945648	0.60355	0.24000685	0.49363	-5.261	0.39556	T	.	.	0.266	0.50073	B	.;.	.;.	4.811294	0.78275	26.9	0.99942031834897926	0.99824	0.83454	0.42570	D	AEFBCI	0.152943	0.27771	N	-0.428909340733433	0.24461	1.320908	-0.274790836674387	0.28932	1.616964	0.999998058863805	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.662433	0.64102	0	.	.	5.33	4.39	0.52211	3.384000	0.52216	9.948000	0.82707	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	0.0775:0.0:0.9225:0.0	13.046	0.58337	606	0.67383	BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1619.46	37	chr20	23364697	.	G	A	1619.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.171;DP=311;ExcessHet=0;FS=0.688;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.952;SOR=0.785	GT:AD:DP:GQ:PL	0/1:52,66:118:99:1630,0,1227	6	0	1	0
chr20	31465511	31465511	C	T	exonic	DEFB124	.	nonsynonymous SNV	DEFB124:NM_001037500:exon2:c.G211A:p.E71K	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00255572939427	0.0005	0.000998403	0.0009	0.0004	0.0008	0	0	0.0009	0.0033	0.0020	0.0009056	140	154602	rs143786425	0.0010	0.0010	0.0009	0.0011	0.0020	0.0010	0.0009	0.0018	0.0017	8.962e-05	0.0010	0.0023	0	1.872e-05	0.0003	0.0010	0.0009	0.0020	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0005	0.0004	9.623e-05	0	0.0004	0.0023	0	0	0	0.0005	0.0005	0.0012	0.09	0.31987	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.041574	0.01894	N	2.353360	1	0.08975	N	.	.	.	2.81	0.10975	T	0.03	0.06612	N	0.186	0.20262	-0.9686	0.37489	T	0.021	0.08824	T	9	0.0066179335	0.00150	T	0.002556	0.05121	T	0.009	0.00846	.	.	0.0297737177859	0.01360	0.5472634709842789	0.54652	0.29552455342	0.31957	0.381278306246	0.22438	T	0.002521	0.01914	T	-0.639054	0.00084	T	-0.747081	0.03600	T	0.00445694115999005	0.00048	T	0.443756	0.12347	T	0.0329814	0.03426	0.03240459	0.01971	0.0329814	0.03426	0.03240459	0.01970	-3.363	0.14563	T	.	.	0.091	0.12891	B	.	.	1.225247	0.16193	12.38	0.99031213358282377	0.50808	0.01383	0.04707	N	AEFBI	0.033453	0.03969	N	-1.06834023482303	0.07232	0.3353589	-1.15848940369869	0.06616	0.3190833	3.41363343385773E-4	0.06626	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	3.87	-0.726	0.10606	-0.051000	0.11840	-0.692000	0.07835	-0.192000	0.09343	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2294:0.4027:0.0:0.3679	2.851	0.05217	619	0.66147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	354.49	30	chr20	31465511	.	C	T	354.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.054;DP=221;ExcessHet=0;FS=1.199;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=-0.786;SOR=1.022	GT:AD:DP:GQ:PL	0/1:30,17:47:99:365,0,767	6	0	1	0
chr20	32798578	32798578	C	T	exonic	DNMT3B	.	nonsynonymous SNV	DNMT3B:NM_001207056:exon12:c.C1321T:p.R441W,DNMT3B:NM_001207055:exon13:c.C1423T:p.R475W,DNMT3B:NM_175848:exon14:c.C1549T:p.R517W,DNMT3B:NM_175849:exon14:c.C1549T:p.R517W,DNMT3B:NM_175850:exon14:c.C1585T:p.R529W,DNMT3B:NM_006892:exon15:c.C1609T:p.R537W	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1891713	Inborn_genetic_diseases|Centromeric_instability_of_chromosomes_1,9_and_16_and_immunodeficiency	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0000133,MedGen:C0398788,OMIM:PS242860,Orphanet:2268	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.355	0.101883154593	.	.	0.0001	0.0002	8.678e-05	0.0002	0	0	0	0.0005	9.7e-05	15	154602	rs771223602	3.899e-05	3.899e-05	2.314e-05	5.5e-05	0.0005	3.047e-05	2.783e-05	0.0004	0.0003	2.987e-05	0	0	5.038e-05	0	0	8.093e-06	4.967e-05	0.0005	5.906e-05	5.905e-05	2.569e-05	9.393e-05	0.0012	3.074e-05	2.208e-05	0.0005	0.0004	4.809e-05	0	0	0	0	0	0	1.47e-05	0	0.0012	0.04	0.43085	D	0.009	0.67890	D	0.005	0.17332	B	0.0	0.16460	B	0.000583	0.43095	N	0.234553	0.902827	0.81001	D	1.545	0.39105	L	-1.18	0.78314	T	-4.88	0.82896	D	0.256	0.30118	-0.5870	0.65340	T	0.300	0.67092	T	10	0.1764437	0.32629	T	0.101883	0.77503	D	0.355	0.67600	0.461	0.52916	0.622913199725	0.61985	0.6446323000219263	0.64398	0.806787862684	0.66515	0.256453156471	0.04477	T	0.654812	0.89569	D	-0.232769	0.16284	T	-0.261615	0.48664	T	0.229172105344398	0.21912	T	0.959904	0.84889	D	0.16801375	0.37233	0.15844123	0.37001	0.16801375	0.37233	0.15844123	0.37000	-9.99	0.75945	D	0.3308054707476536	0.42884	0.116	0.26357	B	.;.;.;.;.;.	.;.;.;.;.;.	4.071059	0.60485	24.2	0.99826776116471072	0.90939	0.75337	0.36882	D	AEFDBCI	0.598689	0.59199	D	-0.130956184463315	0.36049	2.078547	0.0222073977888595	0.40748	2.436825	0.999999848625029	0.74766	0.631515	0.41029	0	0.588015	0.36545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.76	4.8	0.61157	1.761000	0.38070	1.826000	0.29078	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.768000	0.36443	0.1634:0.7485:0.0:0.088	7.444	0.26370	309	0.87553	ADD domain|DNA (cytosine-5)-methyltransferase 3B, ADD 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	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1263.53	37	chr20	32798578	.	C	T	1263.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.91;DP=258;ExcessHet=0;FS=6.981;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=2.2;SOR=1.111	GT:AD:DP:GQ:PL	0/1:23,44:67:99:1274,0,457	6	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1118.32	66	chr20	34852409	.	G	C	1118.32	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.853;DP=740;ExcessHet=11.5949;FS=341.312;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=1.72;ReadPosRankSum=0.758;SOR=11.219	GT:AD:DP:GQ:PL	0/1:81,54:140:99:368,0,1184	0	0	6	1
chr20	41166241	41166241	C	A	exonic	PLCG1	.	nonsynonymous SNV	PLCG1:NM_002660:exon17:c.C1847A:p.A616D,PLCG1:NM_182811:exon17:c.C1847A:p.A616D	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0121091065774	.	.	1.65e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs773588801	4.789e-06	4.788e-06	1.361e-06	8.251e-06	0.0002	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	8.993e-07	0	5.797e-05	6.563e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.124	0.27426	T	0.631	0.07173	T	0.158	0.29379	B	0.039	0.27432	B	0.000003	0.62929	D	0.103033	1	0.81001	D	-0.525	0.02545	N	1.86	0.24285	T	-1.66	0.39692	N	0.74	0.77132	-1.0768	0.07983	T	0.032	0.13592	T	10	0.36459434	0.53000	T	0.012109	0.30386	T	0.187	0.46274	0.512	0.61000	0.324009150485	0.32011	0.5062295890891323	0.50544	.	.	0.788649141788	0.80237	T	0.568983	0.85697	D	-0.225082	0.17306	T	-0.379563	0.35774	T	0.438151657581329	0.30360	T	0.969303	0.88939	D	0.5345049	0.69087	0.43268716	0.66846	0.5345049	0.69088	0.43268716	0.66846	-13.908	0.92784	D	.	.	0.564	0.68801	A	.;.	.;.	4.211842	0.63633	24.6	0.98952713267097092	0.49170	0.94304	0.60741	D	AEFBCI	0.741672	0.68553	D	-0.539892269293522	0.20802	1.099314	-0.323569760891505	0.27339	1.516348	0.999999175417758	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	4.46	0.53567	4.982000	0.63547	7.631000	0.62734	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8656:0.1344:0.0	16.073	0.80759	942	0.12992	.;SH2 domain|SH2 domain|Pleckstrin homology domain|SH2 domain|PLC-gamma, N-terminal SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	2518.44	41	chr20	41166241	.	C	A	2518.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.622;DP=436;ExcessHet=0;FS=1.039;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.65;SOR=0.604	GT:AD:DP:GQ:PL	0/1:119,104:223:99:2529,0,2771	6	0	1	0
chr20	44355853	44355853	G	A	exonic	HNF4A	.	nonsynonymous SNV	HNF4A:NM_001030003:exon1:c.G49A:p.D17N,HNF4A:NM_001030004:exon1:c.G49A:p.D17N,HNF4A:NM_175914:exon1:c.G49A:p.D17N	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	.	.	.	.	.	.	.	0.9855	0.856	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	.	.	.	8.654e-06	0	0	0	0	0	0	6.269e-05	6.5e-06	1	154602	rs765862207	1.371e-05	1.437e-05	1.091e-05	1.655e-05	0.0002	8.95e-06	7.28e-06	3.769e-05	2.664e-05	0	0	0	0	0	0.0002	9.913e-06	1.661e-05	8.124e-05	6.572e-06	1.97e-05	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.049	0.39820	D	0.026	0.55759	D	0.021	0.18474	B	0.018	0.21741	B	.	.	.	.	0.999921	0.51308	D	.	.	.	-2.99	0.92108	D	-0.57	0.17210	N	0.393	0.45047	0.004	0.82345	D	0.587	0.85202	D	9	0.39404175	0.55097	T	0.48748	0.94943	D	0.246	0.55340	0.15	0.05339	0.752906730884	0.75066	.	.	.	.	.	.	.	.	.	.	-0.193723	0.21713	T	-0.279377	0.46867	T	0.633342146873474	0.37757	D	0.539746	0.18256	T	.	.	.	.	.	.	.	.	-5.838	0.47281	T	.	.	0.108	0.20586	B	.;.;.	.;.;.	6.156006	0.94686	34	0.99824003220507973	0.90677	0.85161	0.44270	D	AEFDBHCI	0.754880	0.69462	D	-0.031055095648535	0.40453	2.402574	0.147564001311967	0.47012	2.938042	0.999999999991004	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.16	5.16	0.70563	5.862000	0.69313	11.754000	0.95474	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:0.0:1.0:0.0	14.509	0.67353	437	0.80299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	871.49	39	chr20	44355853	.	G	A	871.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=256;ExcessHet=0;FS=3.137;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.91;SOR=0.91	GT:AD:DP:GQ:PL	0/1:36,37:73:99:882,0,758	6	0	1	0
chr20	45857313	45857313	-	ATCT	exonic	ACOT8	.	startloss	ACOT8:NM_005469:exon1:c.2_3insAGAT:p.M1?	.	425	1040	53	4	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.029353	0.0253	0.0006	0.0021	0.0353	0.0008	0.0044	0.0100	0.1046	0.0014215	37	26028	rs201025211	0.0089	0.0090	0.0066	0.0112	0.0854	0.0087	0.0087	0.0838	0.0831	0.0011	0.0011	0.0061	0.0228	0.0003	0.0110	0.0033	0.0133	0.0854	0.0058	0.0059	0.0046	0.0072	0.0886	0.0055	0.0054	0.0817	0.0790	0.0005	0	0.0014	0.0084	0.0286	0	0.0204	0.0032	0.0099	0.0886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013158	0.000000	0.000000	0.014620	0.000000	0.000000	0.028125	0.049618	0.07143	1053.79	35	chr20	45857313	.	C	CATCT	1053.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.12;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.18;SOR=0.732	GT:AD:DP:GQ:PL	0/1:51,29:80:99:1064,0,2049	6	0	1	0
chr20	59193460	59193460	G	A	exonic	ZNF831	.	nonsynonymous SNV	ZNF831:NM_178457:exon2:c.G2441A:p.G814E,ZNF831:NM_001384354:exon4:c.G2441A:p.G814E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00469392933205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.868e-07	3.42e-06	0	1.381e-06	1.175e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.175e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.084	0.41239	T	0.89	0.48942	P	0.286	0.40541	B	0.038335	0.24298	N	0.352176	1	0.08975	N	0.46	0.12951	N	3.43	0.05440	T	-1.33	0.33197	N	0.194	0.21319	-0.9690	0.37407	T	0.012	0.04558	T	10	0.11230981	0.21062	T	0.004694	0.11660	T	0.035	0.08770	0.265	0.21103	0.228597637076	0.22478	0.04750863671082918	0.04693	0.349277998776	0.36782	0.296025931835	0.09810	T	0.00547	0.04921	T	-0.242692	0.15008	T	-0.586387	0.13980	T	0.252594918012619	0.22989	T	0.515548	0.16619	T	0.07879004	0.17963	0.09505068	0.22525	0.07879004	0.17962	0.09505068	0.22525	-3.429	0.15449	T	.	.	0.137	0.29968	B	.;.	.;.	0.740140	0.11095	7.743	0.79074385388574853	0.12579	0.08295	0.14243	N	AEFDBI	0.096616	0.19501	N	-0.564600738046493	0.20028	1.052788	-0.683543631221881	0.17371	0.9234229	1.55852163463679E-4	0.05650	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	5.06	1.9	0.24770	0.794000	0.26619	0.946000	0.22888	-0.124000	0.13482	0.014000	0.18986	0.977000	0.30130	0.001000	0.02609	0.0821:0.0:0.6024:0.3155	6.919	0.23554	993	0.01300	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1174.46	26	chr20	59193460	.	G	A	1174.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.335;DP=276;ExcessHet=0;FS=2.019;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=0.675;SOR=0.543	GT:AD:DP:GQ:PL	0/1:25,49:74:99:1185,0,474	6	0	1	0
chr20	59880392	59880392	A	G	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon31:c.T2852C:p.I951T	.	491	1010	19	2	0	23	0.011258	.	.	.	742490	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0023	0.00279553	0.0075	0.0028	0.0026	0.0002	0.0015	0.0053	0.0129	0.0242	0.004269	660	154602	rs151163205	0.0033	0.0033	0.0027	0.0039	0.0199	0.0032	0.0032	0.0191	0.0188	0.0018	0.0014	0.0110	2.54e-05	0.0011	0.0141	0.0021	0.0036	0.0199	0.0028	0.0028	0.0026	0.0029	0.0170	0.0026	0.0025	0.0140	0.0129	0.0020	0	0.0009	0.0118	0.0002	0.0008	0	0.0028	0.0024	0.0170	0.002	0.72154	D	0.089	0.40426	T	0.873	0.47975	P	0.523	0.48316	P	0.115937	0.19214	N	0.526307	0.675527	0.33183	D	2.36	0.67893	M	1.99	0.25996	T	-1.73	0.41428	N	0.549	0.57518	-0.8524	0.51802	T	0.085	0.33071	T	10	0.0054754317	0.00121	T	.	.	.	0.080	0.23350	.	.	0.198222871337	0.19423	0.1296067380900451	0.12885	0.181139919638	0.20371	0.383799672127	0.22794	T	0.325304	0.69603	T	-0.426602	0.01555	T	-0.370624	0.36816	T	0.0361782947290068	0.03013	T	0.759724	0.39899	T	0.17678405	0.38609	0.18749948	0.41986	0.17678405	0.38609	0.18749948	0.41985	-3.604	0.17915	T	.	.	0.366	0.65087	A	.;.;.	.;.;.	3.250656	0.44415	21.9	0.99779029259715812	0.86606	0.89916	0.50699	D	AEDI	0.323592	0.42573	N	0.398077559212782	0.61317	4.331235	0.410644987295162	0.62227	4.434644	0.00395175141296271	0.10355	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.76	0.60189	4.616000	0.60900	6.810000	0.56646	0.691000	0.84096	0.986000	0.36153	0.976000	0.30059	0.975000	0.56047	0.8401:0.1599:0.0:0.0	10.685	0.45037	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008577	0.000000	0.008174	0.005882	0.000000	0.008621	0.006098	0.022727	0.1429	1695.65	32	chr20	59880392	.	A	G	1695.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.549;DP=263;ExcessHet=0.3476;FS=4.216;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=1.24;SOR=1.073	GT:AD:DP:GQ:PL	0/1:40,32:72:99:671,0,853	5	0	2	0
chr20	63561446	63561446	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon8:c.G5150A:p.R1717Q,HELZ2:NM_001037335:exon14:c.G6857A:p.R2286Q	.	425	1087	10	0	0	10	0.00457875	.	.	.	3689219	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.333	0.0711896520816	7.7e-05	.	0.0003	9.899e-05	0.0004	0	0	6.14e-05	0.0012	0.0015	0.0002264	35	154602	rs377628074	0.0002	0.0002	8.186e-05	0.0002	0.0028	0.0001	0.0001	0.0018	0.0017	0	0.0001	0	0	0	0.0028	2.07e-05	0.0003	0.0020	5.253e-05	5.249e-05	3.855e-05	6.714e-05	0.0012	2.556e-05	1.829e-05	0.0005	0.0004	2.405e-05	0	0	0	0	0	0	1.471e-05	0	0.0012	0.082	0.33254	T	0.035	0.52389	D	0.999	0.90584	D	0.966	0.79672	D	0.766281	0.09582	N	0.857968	0.971044	0.38842	D	1.325	0.33218	L	-1.54	0.81640	D	-2.26	0.53258	N	0.464	0.54932	-0.2935	0.75167	T	0.536	0.82854	D	10	0.070828885	0.10358	T	0.07119	0.71204	D	0.333	0.65522	.	.	0.671013503938	0.66823	0.5252025767368174	0.52444	0.773432479962	0.64893	0.533091664314	0.43470	T	0.227268	0.59251	T	-0.291813	0.09455	T	-0.216573	0.53067	T	0.0717606276334605	0.08896	T	0.89721	0.64041	D	0.26178193	0.49237	0.13710324	0.32781	0.26178193	0.49237	0.13710324	0.32780	-4.659	0.32904	T	.	.	0.127	0.28750	B	.;.	.;.	4.682045	0.74937	26.2	0.99938172093669664	0.99698	0.96027	0.67203	D	AEFDGBI	0.270643	0.38666	N	0.334820769620035	0.57943	3.963954	0.305031323910823	0.55835	3.746296	0.917380342497508	0.26540	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.46	4.46	0.53567	1.166000	0.31444	3.915000	0.40434	0.549000	0.26987	0.656000	0.28225	0.999000	0.35428	0.952000	0.50033	0.3141:0.6859:0.0:0.0	11.503	0.49697	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1338.44	36	chr20	63561446	.	C	T	1338.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.84;DP=345;ExcessHet=0;FS=1.415;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-1.363;SOR=0.529	GT:AD:DP:GQ:PL	0/1:79,54:133:99:1349,0,1969	6	0	1	0
chr20	63568584	63568584	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_001037335:exon6:c.G1504A:p.A502T	.	396	1124	2	0	0	2	0.000888889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	0.0059	0.00399361	0.0025	0.0254	0.0012	0.0003	0	3.129e-05	0.0075	0.0005	0.0013519	209	154602	rs61741406	0.0005	0.0005	0.0006	0.0005	0.0187	0.0005	0.0005	0.0175	0.0170	0.0187	0.0005	0	2.559e-05	0	0.0009	1.899e-05	0.0010	0.0007	0.0051	0.0051	0.0055	0.0047	0.0183	0.0048	0.0047	0.0172	0.0168	0.0183	0	0.0008	0	0	0	0	1.47e-05	0.0024	0.0006	0.749	0.03598	T	0.988	0.02376	T	0.059	0.23051	B	0.003	0.08700	B	0.125754	0.02765	N	1.765690	1	0.08975	N	0.22	0.09567	N	-1.14	0.77843	T	0.0	0.07008	N	0.032	0.00825	-0.9210	0.45417	T	0.047	0.20275	T	10	0.0034807622	0.00062	T	.	.	.	0.109	0.30843	.	.	0.107399877778	0.10242	0.06021833754805024	0.05961	0.173054112851	0.19489	0.3523671031	0.18269	T	0.015992	0.13307	T	-0.596167	0.00154	T	-0.614193	0.11647	T	0.000890653836295284	0.00008	T	0.443356	0.12326	T	0.07172481	0.15901	0.044105235	0.05638	0.07172481	0.15901	0.044105235	0.05637	-4.13	0.25730	T	.	.	0.072	0.04277	B	.	.	0.690796	0.10597	7.299	0.67948864028608702	0.08508	0.08650	0.14549	N	AEFDGBCI	0.053227	0.09572	N	-1.57227122255346	0.01409	0.06143055	-1.55818833438924	0.01920	0.08759531	0.999999992493442	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.717052	0.78885	0	0.683762	0.67416	0	.	.	4.52	-4.86	0.02902	-0.927000	0.04092	-1.103000	0.06322	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1877:0.2152:0.096:0.5011	2.071	0.03395	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1172.53	33	chr20	63568584	.	C	T	1172.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.612;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=-0.364;SOR=0.622	GT:AD:DP:GQ:PL	0/1:32,43:75:99:1183,0,761	6	0	1	0
chr20	63873800	63873800	G	A	exonic	TPD52L2	.	nonsynonymous SNV	TPD52L2:NM_001243891:exon3:c.G223A:p.V75M,TPD52L2:NM_001243892:exon3:c.G229A:p.V77M,TPD52L2:NM_001243894:exon3:c.G298A:p.V100M,TPD52L2:NM_001243895:exon3:c.G298A:p.V100M,TPD52L2:NM_003288:exon3:c.G298A:p.V100M,TPD52L2:NM_199359:exon3:c.G298A:p.V100M,TPD52L2:NM_199360:exon3:c.G298A:p.V100M,TPD52L2:NM_199361:exon3:c.G298A:p.V100M,TPD52L2:NM_199362:exon3:c.G298A:p.V100M,TPD52L2:NM_199363:exon3:c.G298A:p.V100M	.	437	1059	24	2	0	28	0.0130475	.	.	.	717150	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0007	0.00459265	0.0072	0.0002	0.0024	0.0007	0	0.0016	0.0092	0.0378	0.0034993	541	154602	rs146221163	0.0021	0.0022	0.0014	0.0029	0.0269	0.0021	0.0021	0.0259	0.0255	0.0002	0.0011	0.0007	0.0001	3.837e-05	0.0076	0.0006	0.0021	0.0269	0.0016	0.0016	0.0011	0.0020	0.0280	0.0014	0.0013	0.0242	0.0227	0.0002	0	0.0018	0.0006	0	0	0	0.0009	0.0028	0.0280	0.117	0.29420	T	0.116	0.50514	T	0.538	0.37867	P	0.409	0.44752	B	0.000017	0.62929	N	0.067765	0.999073	0.50595	D	1.745	0.45235	L	1.62	0.28189	T	-2.15	0.55983	N	0.326	0.36674	-1.0613	0.11434	T	0.093	0.35363	T	10	0.005977899	0.00134	T	.	.	.	0.163	0.42028	.	.	0.110392049598	0.10638	0.525710121982997	0.52495	0.192320976914	0.21557	0.372602283955	0.21205	T	0.097271	0.39992	T	-0.466617	0.00893	T	-0.423442	0.30682	T	0.0281337036299695	0.01708	T	0.876112	0.60266	D	0.050308015	0.09069	0.11707527	0.28264	0.050308015	0.09068	0.11707527	0.28263	-4.791	0.58017	T	.	.	0.117	0.39425	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.643460	0.34402	19.62	0.97310466524508998	0.33322	0.77468	0.38093	D	ALL	0.469324	0.51575	N	-0.35025809430402	0.27263	1.494361	-0.417033629949026	0.24497	1.341769	0.999999988724354	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	5.65	1.56	0.22423	4.167000	0.57999	2.297000	0.31994	-0.202000	0.08738	1.000000	0.71638	0.993000	0.31925	0.816000	0.38450	0.2839:0.0:0.7161:0.0	9.849	0.40212	.	.	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.010101	0.000000	0.006793	0.002941	0.000000	0.025862	0.012346	0.034351	0.07143	603.63	33	chr20	63873800	.	G	A	603.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.506;DP=213;ExcessHet=0;FS=6.901;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=1.17;SOR=0.156	GT:AD:DP:GQ:PL	0/1:18,27:45:99:614,0,432	6	0	1	0
chr21	5137388	5137388	C	G	exonic	LOC102724159;PWP2	.	nonsynonymous SNV	LOC102724159:NM_001368238:exon15:c.G1904C:p.R635P,PWP2:NM_005049:exon15:c.G1904C:p.R635P	.	496	1020	6	0	0	6	0.00293255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449662252	0.0004	0.0004	0.0003	0.0004	0.0099	0.0004	0.0003	0.0078	0.0070	0.0007	0.0004	8.391e-05	0	1.941e-05	0.0099	0.0003	0.0010	0.0013	0.0005	0.0005	0.0006	0.0004	0.0005	0.0004	0.0004	0.0004	0.0003	9.186e-05	0.0238	7.251e-05	0	0	0	0.0290	0.0005	0	0.0005	.	.	.	0.118	0.36233	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.49783	.	.	.	.	.	.	.	0.019749343	0.00445	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928707	0.73770	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.42706	B	.	.	1.131865	0.15185	11.65	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.682000	0.37245	-0.674000	0.07920	0.284000	0.18682	1.000000	0.71638	0.000000	0.08366	0.582000	0.30943	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	5049.44	35	chr21	5137388	.	C	G	5049.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.66;DP=666;ExcessHet=0;FS=1.101;MLEAC=1;MLEAF=0.071;MQ=39.24;MQRankSum=-5.983;QD=11.05;ReadPosRankSum=0.468;SOR=0.687	GT:AD:DP:GQ:PL	0/1:221,236:457:99:5060,0,4432	6	0	1	0
chr21	10567789	10567789	G	A	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon6:c.G152A:p.R51K,TPTE:NM_199260:exon9:c.G452A:p.R151K,TPTE:NM_199259:exon10:c.G512A:p.R171K,TPTE:NM_199261:exon11:c.G566A:p.R189K	.	488	1030	4	0	0	4	0.00193798	0.9999	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.813	0.00323682469392	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs138088406	0.0010	0.0035	0.0010	0.0010	0.0012	0.0010	0.0010	0.0011	0.0011	0.0003	0.0001	0.0005	0	9.361e-05	0.0002	0.0012	0.0010	0.0008	0.0014	0.0024	0.0014	0.0013	0.0025	0.0012	0.0012	0.0022	0.0021	0.0003	0	0.0012	0	0	0	0	0.0025	0.0014	0.0014	.	.	.	0.185	0.28958	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.44090	.	.	.	.	.	.	.	0.19259626	0.34994	T	.	.	.	.	.	.	.	.	.	0.9389900620778954	0.93880	.	.	.	.	.	0.086929	0.37832	T	.	.	.	.	.	.	.	.	.	0.542346	0.18433	T	.	.	.	.	.	.	.	.	-4.404	0.30993	T	.	.	0.121	0.27433	B	.;.;.;.	.;.;.;.	3.936949	0.57579	23.9	.	.	.	.	.	.	0.329697	0.42996	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.037000	0.49465	1.261000	0.25231	0.325000	0.19437	1.000000	0.71638	1.000000	0.68203	0.508000	0.29198	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	211.44	40	chr21	10567789	.	G	A	211.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.129;DP=422;ExcessHet=0;FS=0.717;MLEAC=1;MLEAF=0.071;MQ=59.9;MQRankSum=0.585;QD=0.97;ReadPosRankSum=-2.052;SOR=0.769	GT:AD:DP:GQ:PL	0/1:188,31:219:99:222,0,4711	6	0	1	0
chr21	30590372	30590372	C	T	exonic	KRTAP22-2	.	startloss	KRTAP22-2:NM_001164434:exon1:c.G3A:p.M1?	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0764358423072	.	.	0.0005	0	0	0	0	0	0	0.0013	6.47e-05	10	154602	rs750634932	6.149e-05	5.883e-05	1.552e-05	0.0001	0.0011	5.096e-05	4.699e-05	0.0009	0.0008	0	0	0	0	0	0	0	0	0.0011	2.627e-05	2.625e-05	0	5.374e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.046666	0.23417	U	0.213997	1	0.81001	D	.	.	.	.	.	.	-4.0	0.74051	D	0.749	0.74826	-0.3149	0.74566	T	0.344	0.70916	T	6	0.7945148	0.78950	D	0.076436	0.72529	D	0.334	0.65620	0.772	0.89846	0.0806252709748	0.07271	0.060358237487162986	0.05975	.	.	.	.	.	0.068075	0.33364	T	-0.0811982	0.39519	T	0.0313269	0.72365	D	0.269904881715775	0.23743	T	.	.	.	0.8538697	0.87623	0.7325582	0.84196	0.8538697	0.87624	0.7325582	0.84197	-9.793	0.72662	D	.	.	.	.	.	.	.	2.146320	0.27331	17.43	0.87537383395552748	0.17298	0.79425	0.39354	D	AEFI	0.015570	0.00304	N	0.0495290170763756	0.44120	2.691954	0.015777702250163	0.40447	2.41397	0.00483644514062418	0.10731	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	4.16	0.48138	1.735000	0.37800	0.842000	0.22053	0.580000	0.29708	0.420000	0.26330	0.306000	0.24247	0.026000	0.12556	0.0:1.0:0.0:0.0	12.182	0.53524	518	0.74548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	570.49	24	chr21	30590372	.	C	T	570.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.895;DP=200;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.924;SOR=0.609	GT:AD:DP:GQ:PL	0/1:18,25:43:99:581,0,417	6	0	1	0
chr21	32687043	32687043	T	G	exonic	SYNJ1	.	nonsynonymous SNV	SYNJ1:NM_001160302:exon8:c.A883C:p.K295Q,SYNJ1:NM_001160306:exon8:c.A883C:p.K295Q,SYNJ1:NM_003895:exon8:c.A1000C:p.K334Q,SYNJ1:NM_203446:exon8:c.A883C:p.K295Q	Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset, Autosomal recessive	491	1029	2	0	0	2	0.000970874	.	.	.	694623	Developmental_and_epileptic_encephalopathy,_53|Early-onset_Parkinson_disease_20	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530,Orphanet:391411	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.190	0.0482733870669	.	0.000399361	0.0005	9.815e-05	8.732e-05	0	0	3.048e-05	0	0.0034	0.000401	62	154602	rs554456240	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0033	0.0032	0	0	0	0	0	0.0021	1.298e-05	0.0002	0.0037	0.0002	0.0002	6.424e-05	0.0003	0.0050	0.0001	9.232e-05	0.0034	0.0029	0	0	0	0	0	0	0	0	0	0.0050	0.264	0.23095	T	0.329	0.22154	T	0.998	0.73220	D	0.898	0.63708	P	0.000005	0.62929	D	0.143592	1	0.81001	D	1.42	0.35681	L	0.29	0.58897	T	-1.33	0.33197	N	0.522	0.55193	-0.6100	0.64403	T	0.299	0.67036	T	10	0.01659891	0.00350	T	0.048273	0.63300	D	0.190	0.46781	0.535	0.64439	0.52628473709	0.52276	0.41492219103878575	0.41408	1.32676758397	0.83573	0.587899684906	0.51197	T	0.316225	0.68810	T	-0.309601	0.07783	T	-0.220548	0.52685	T	0.0997248388611909	0.12327	T	0.953805	0.82846	D	.	.	.	.	.	.	.	.	-6.651	0.51440	T	.	.	0.105	0.33527	B	.;.;.;.;.;.	.;.;.;.;.;.	3.741629	0.53582	23.4	0.9789481118000064	0.36697	0.98547	0.83953	D	AEFBI	0.889263	0.82317	D	0.300611274414046	0.56181	3.782407	0.435128405573143	0.63768	4.617245	0.999999999308644	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.85	5.85	0.93663	7.679000	0.83364	7.875000	0.72177	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.239	0.82222	921	0.19240	.;SAC domain|SAC domain;SAC domain|SAC domain;SAC domain|SAC domain;SAC domain|SAC domain;SAC domain|SAC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002020	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.003788	0.07143	691.44	30	chr21	32687043	.	T	G	691.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.638;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=1.37;SOR=0.588	GT:AD:DP:GQ:PL	0/1:34,34:68:99:702,0,733	6	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	310.05	40	chr21	41918930	.	C	G	310.05	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-3.437;DP=383;ExcessHet=1.1394;FS=141.994;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.813;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,6:71:21:.:.:21,0,2544:.	1	0	3	3
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	336.45	40	chr21	41918931	.	C	G	336.45	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-2.787;DP=380;ExcessHet=1.1394;FS=145.649;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0.618;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,9:72:46:.:.:46,0,2556:.	1	0	3	3
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	324.25	46	chr21	41918933	.	C	G	324.25	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.215;DP=390;ExcessHet=1.1394;FS=127.511;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.646;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,9:77:34:.:.:34,0,2601:.	2	0	3	2
chr21	43746121	43746121	C	T	exonic	PDXK	.	nonsynonymous SNV	PDXK:NM_001331030:exon4:c.C254T:p.S85L,PDXK:NM_003681:exon5:c.C374T:p.S125L	.	422	1095	5	0	0	5	0.0022779	.	.	.	1001183	Neuropathy,_hereditary_motor_and_sensory,_type_VIc,_with_optic_atrophy|not_provided	MONDO:MONDO:0032792,MedGen:C5193137,OMIM:618511|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.303	0.0550394663861	0.0024	0.00119808	0.0025	0.0003	0.0004	0	0.0030	0.0038	0.0011	0.0016	0.0025032	387	154602	rs77734576	0.0030	0.0030	0.0031	0.0030	0.0035	0.0029	0.0029	0.0034	0.0034	0.0004	0.0004	0.0008	2.52e-05	0.0042	0.0002	0.0035	0.0021	0.0015	0.0022	0.0022	0.0024	0.0020	0.0038	0.0020	0.0019	0.0035	0.0033	0.0006	0	0.0004	0.0012	0	0.0031	0	0.0038	0.0014	0.0010	0.059	0.37536	T	0.331	0.31026	T	0.446	0.38591	B	0.063	0.27757	B	0.001057	0.40475	N	0.249786	0.997797	0.44199	D	2.645	0.77386	M	-1.06	0.76819	T	-2.84	0.59873	D	0.485	0.53445	-0.5058	0.68439	T	0.344	0.70908	T	10	0.014126718	0.00298	T	0.055039	0.66082	D	0.303	0.62400	.	.	0.689125373571	0.68646	0.7811901054676708	0.78070	0.564421576671	0.52825	0.389141976833	0.23549	T	0.358579	0.72511	T	-0.293849	0.09253	T	-0.193641	0.55248	T	0.0359377036593191	0.02969	T	0.889011	0.67446	D	0.502382	0.67235	0.31097314	0.57106	0.502382	0.67235	0.31097314	0.57105	-5.593	0.77721	T	0.3813205934037234	0.47571	0.135	0.29228	B	.;.;.	.;.;.	3.081681	0.41459	21.4	0.97057414727168356	0.32180	0.96119	0.67620	D	AEFDGBIJ	0.567065	0.57280	D	-0.162136591143082	0.34719	1.985231	-0.167445676889223	0.32742	1.865837	0.999991207319354	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.36	3.45	0.38602	3.294000	0.51494	1.644000	0.27808	0.584000	0.30380	1.000000	0.71638	0.909000	0.28100	0.354000	0.25750	0.3179:0.6821:0.0:0.0	11.77	0.51223	982	0.03397	.;Pyridoxamine kinase/Phosphomethylpyrimidine kinase;Pyridoxamine kinase/Phosphomethylpyrimidine kinase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	1718.53	35	chr21	43746121	.	C	T	1718.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.77;DP=328;ExcessHet=0;FS=3.836;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.29;SOR=0.458	GT:AD:DP:GQ:PL	0/1:73,75:148:99:1729,0,1696	6	0	1	0
chr21	44305831	44305831	C	T	exonic	PFKL	.	nonsynonymous SNV	PFKL:NM_001002021:exon4:c.C131T:p.T44I	Hemolytic anemia due to phosphofructokinase deficiency (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00737936958494	.	.	0.0002	0	0	0	0	0.0002	0	0.0005	0.0001488	23	154602	rs199690149	0.0001	0.0001	8.976e-05	0.0001	0.0031	0.0001	9.685e-05	0.0019	0.0015	7.605e-05	2.685e-05	0.0005	0	0	0.0031	4.089e-05	0.0003	0.0008	9.194e-05	9.186e-05	6.426e-05	0.0001	0.0008	5.525e-05	4.362e-05	0.0003	0.0002	2.407e-05	0	0.0001	0	0	0	0.0034	5.881e-05	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1926.45	43	chr21	44305831	.	C	T	1926.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.45;DP=312;ExcessHet=0;FS=1.466;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=0.561;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,51:119:99:0|1:44305831_C_T:1937,0,2671:44305831	6	0	1	0
chr21	44551359	44551359	G	C	exonic	KRTAP10-2	.	nonsynonymous SNV	KRTAP10-2:NM_198693:exon1:c.C100G:p.P34A	.	402	1093	27	0	0	27	0.0122006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.006857973493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	9.167e-05	1.363e-06	1.377e-06	8.998e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.882e-05	0	8.998e-07	0	0	0	8.542e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.02	0.58613	D	0.478	0.36706	P	0.091	0.29943	B	.	.	.	.	1	0.81001	D	3.16	0.88528	M	3.0	0.09167	T	-6.29	0.90729	D	0.238	0.26837	-1.0128	0.26038	T	0.028	0.12103	T	9	0.13086596	0.24905	T	0.006858	0.18149	T	0.087	0.25287	0.333	0.32005	0.0884992946249	0.08302	0.03211818367877377	0.03159	0.300726370093	0.32425	0.229376748204	0.01922	T	0.127584	0.45469	T	-0.198584	0.21010	T	-0.523029	0.19988	T	0.447525978088379	0.30707	T	0.312169	0.06100	T	0.13163373	0.30675	0.17131019	0.39304	0.13163373	0.30675	0.17131019	0.39303	-4.914	0.35892	T	.	.	0.062	0.01290	B	.	.	1.620237	0.20694	14.87	0.98068983843560442	0.38007	0.30434	0.24081	N	AEFDBCI	0.050713	0.08891	N	-0.554406046105279	0.20345	1.071862	-0.703070291077853	0.16883	0.895275	0.988170957980781	0.31436	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.43	0.099	0.13807	0.068000	0.14398	0.830000	0.21939	0.614000	0.49286	0.017000	0.19353	0.342000	0.24428	0.020000	0.11549	0.3746:0.0:0.4188:0.2066	2.724	0.04886	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	129.53	70	chr21	44551359	.	G	C	129.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.616;DP=554;ExcessHet=0;FS=9.195;MLEAC=1;MLEAF=0.071;MQ=58.11;MQRankSum=-11.15;QD=1.03;ReadPosRankSum=-4.471;SOR=2.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,12:126:99:0|1:44551359_G_C:140,0,4741:44551359	6	0	1	0
chr21	44551362	44551362	T	C	exonic	KRTAP10-2	.	nonsynonymous SNV	KRTAP10-2:NM_198693:exon1:c.A97G:p.T33A	.	408	1090	23	0	1	24	0.0104403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00142929991798	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217442880	4.793e-06	4.036e-05	4.088e-06	5.505e-06	7.557e-05	1.99e-06	1.28e-06	2.004e-05	1.055e-05	2.993e-05	0	0	7.557e-05	0	0	2.698e-06	0	0	6.61e-06	8.547e-05	0	1.352e-05	2.43e-05	0	0	.	.	2.43e-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	0.0	0.01387	B	.	.	.	.	0.999998	0.08975	N	-1.02	0.01137	N	4.24	0.02590	T	1.45	0.00785	N	0.039	0.01274	-0.9355	0.43318	T	0.003	0.00864	T	9	0.018336236	0.00398	T	0.001429	0.02139	T	0.011	0.01250	0.315	0.29096	0.0138822411134	0.00435	0.024435020588935916	0.02394	0.0552981535994	0.06117	0.204471498728	0.00598	T	3.31E-4	0.00092	T	-0.407219	0.02074	T	-0.822718	0.01398	T	0.0476021624331106	0.05072	T	0.0221311	0.00124	T	0.034739908	0.03955	0.05054988	0.07957	0.034739908	0.03955	0.05054988	0.07956	-0.368	0.00509	T	.	.	0.061	0.01075	B	.	.	-1.749766	0.00175	0.003	0.3695739840024776	0.02407	0.00670	0.02889	N	AEFDBI	0.019060	0.00629	N	-2.14786708741459	0.00100	0.004289547	-2.13022293796069	0.00160	0.007038055	0.999340541081315	0.39222	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.43	-4.44	0.03308	-3.119000	0.00657	-13.254000	0.00470	-0.979000	0.01905	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3951:0.2361:0.3687	5.979	0.18627	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	69.49	70	chr21	44551362	.	T	C	69.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.187;DP=553;ExcessHet=0;FS=13.645;MLEAC=1;MLEAF=0.071;MQ=58.38;MQRankSum=-11.02;QD=0.56;ReadPosRankSum=-3.5;SOR=2.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,10:123:80:0|1:44551359_G_C:80,0,4709:44551359	6	0	1	0
chr22	18085172	18085172	C	T	exonic	PEX26	.	nonsynonymous SNV	PEX26:NM_001127649:exon4:c.C728T:p.A243V,PEX26:NM_017929:exon5:c.C728T:p.A243V	Peroxisome biogenesis disorder 7A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 7B, Autosomal recessive	0	1485	36	1	0	38	0.012633	.	.	.	101776	not_provided|not_specified|Peroxisome_biogenesis_disorder_7A_(Zellweger)|Peroxisome_biogenesis_disorder_7B	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013938,MedGen:C3888385,OMIM:614872,Orphanet:912|MONDO:MONDO:0013939,MedGen:C3553951,OMIM:614873,Orphanet:44	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.197	0.0474069941573	0.0013	0.000599042	0.0025	0.0005	0.0049	0	0	0.0027	0.0055	0.0031	0.002238	346	154602	rs149153003	0.0020	0.0020	0.0019	0.0021	0.0078	0.0019	0.0019	0.0060	0.0054	0.0003	0.0028	0.0143	5.038e-05	1.872e-05	0.0078	0.0017	0.0036	0.0037	0.0015	0.0015	0.0015	0.0016	0.0027	0.0014	0.0013	0.0016	0.0015	0.0002	0	0.0010	0.0161	0	0	0.0170	0.0019	0.0024	0.0027	1.0	0.00964	T	0.892	0.03117	T	0.037	0.20876	B	0.008	0.13708	B	0.807127	0.06805	N	1.130330	1	0.08975	N	1.445	0.36358	L	-3.31	0.93835	D	0.39	0.03521	N	0.169	0.17966	-0.4963	0.68783	T	0.459	0.78970	T	10	0.0070671737	0.00161	T	0.047407	0.62906	D	0.197	0.47942	.	.	0.713262185059	0.71075	0.18857996755709533	0.18775	0.169790244603	0.19148	0.245509326458	0.03309	T	0.160927	0.50497	T	-0.343929	0.05120	T	-0.26828	0.47994	T	0.0011585195957036	0.00011	T	0.680032	0.28847	T	0.013598841	0.00064	0.029807605	0.01360	0.01283413	0.00043	0.033644404	0.02294	-3.795	0.20730	T	0.18329792778732906	0.23723	0.085	0.10256	B	.;.	.;.	1.406946	0.18215	13.61	0.90691769302167446	0.19942	0.02475	0.06940	N	AEFDBI	0.039902	0.05861	N	-1.08820130963749	0.06860	0.3169854	-1.0370179735868	0.08979	0.4442657	0.99972819727319	0.42220	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	-1.98	0.07070	0.506000	0.22367	-0.028000	0.12833	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.425000	0.27339	0.0:0.3426:0.1547:0.5026	5.148	0.14322	835	0.38313	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.010870	0.002924	0.000000	0.017241	0.003049	0.007576	0.07143	658.63	34	chr22	18085172	.	C	T	658.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.51;DP=236;ExcessHet=0;FS=0.983;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.739;SOR=0.926	GT:AD:DP:GQ:PL	0/1:33,28:61:99:669,0,719	6	0	1	0
chr22	18607962	18607962	G	A	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.C3473T:p.T1158M	.	497	1020	5	0	0	5	0.00244499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000928264454427	0.0006	.	0.0014	0	0.0003	0.0064	0.0011	0.0014	0	0.0007	4.53e-05	7	154602	rs201506791	0.0007	0.0012	0.0006	0.0007	0.0017	0.0006	0.0006	0.0013	0.0012	0.0003	2.247e-05	0.0007	0.0017	0.0009	0.0002	0.0007	0.0007	0.0003	0.0006	0.0011	0.0006	0.0005	0.0019	0.0005	0.0004	0.0010	0.0008	0.0001	0	0.0005	0.0006	0.0019	0.0007	0	0.0008	0.0005	0.0002	.	.	.	0.281	0.21612	T	.	.	.	.	.	.	0.925030	0.08460	N	0.962179	1	0.08975	N	0.145	0.08828	N	.	.	.	.	.	.	0.044	0.01658	-1.0172	0.24625	T	0.019	0.07846	T	10	0.0054496825	0.00120	T	9.28E-4	0.00911	T	.	.	.	.	0.0297737177859	0.01360	0.3324131344491158	0.33154	.	.	0.369780004025	0.20800	T	8.79E-4	0.00441	T	-0.712885	0.00031	T	-0.797625	0.01963	T	0.00158873558637416	0.00016	T	0.336666	0.07200	T	0.009456448	0.00002	0.025103264	0.00544	0.009456448	0.00002	0.025103264	0.00544	-4.83	0.34939	T	.	.	0.069	0.02960	B	.	.	-0.606033	0.01555	0.102	0.90404575581100577	0.19666	0.01311	0.04542	N	AEFBI	0.057088	0.10607	N	-1.38290293845297	0.02798	0.1240805	-1.38706317410882	0.03389	0.1579858	8.14919401000295E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.42	-3.78	0.04049	-0.057000	0.11726	-0.970000	0.06749	-0.629000	0.04519	0.000000	0.06391	0.000000	0.08366	0.417000	0.27162	0.3832:0.1664:0.2828:0.1676	0.664	0.00794	866	0.32446	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	0.000577	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004098	0.07143	33.44	33	chr22	18607962	.	G	A	33.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.662;DP=563;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=38.23;MQRankSum=-2.458;QD=0.09;ReadPosRankSum=1.14;SOR=0.668	GT:AD:DP:GQ:PL	0/1:325,42:367:44:44,0,7698	6	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.75	15434.7	140	chr22	18925165	.	A	G	15434.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-0.473;DP=843;ExcessHet=1.383;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=-0.984;SOR=0.686	GT:AD:DP:GQ:PL	0/1:78,91:169:99:2084,0,1747	0	3	3	1
chr22	21387331	21387331	C	T	exonic	RIMBP3B;RIMBP3C	.	nonsynonymous SNV	RIMBP3C:NM_001128633:exon1:c.C3473T:p.T1158M,RIMBP3B:NM_001128635:exon1:c.C3473T:p.T1158M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00235251515499	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448612804	0.0011	0.0020	0.0010	0.0012	0.0033	0.0010	0.0009	0.0026	0.0024	0	9.234e-05	0	0	0.0045	0	0.0033	0.0014	0.0004	0	0.0015	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	0	0	.	.	.	0.229	0.25210	T	.	.	.	.	.	.	0.925030	0.08460	N	0.962179	1	0.08975	N	-0.11	0.04642	N	.	.	.	.	.	.	0.057	0.02861	-1.0029	0.29080	T	0.023	0.09878	T	10	0.03739202	0.02090	T	0.002353	0.04562	T	.	.	.	.	0.0297737177859	0.01360	0.2859384545478607	0.28506	.	.	0.327248901129	0.14519	T	0.006666	0.06097	T	-0.398257	0.02377	T	-0.809845	0.01669	T	0.0312898345291615	0.02193	T	0.368563	0.08641	T	0.014765909	0.00107	0.027517494	0.00910	0.014765909	0.00107	0.027517494	0.00910	-4.763	0.34157	T	.	.	0.075	0.05668	B	.	.	-0.851493	0.01010	0.042	0.48514723151398809	0.04055	0.01593	0.05177	N	AEFI	0.040679	0.06085	N	-1.64410502898948	0.01060	0.04599904	-1.71222316261018	0.01084	0.04869402	3.45538014588256E-4	0.06626	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.99	-5.86	0.02114	-0.434000	0.07009	0.588000	0.19789	-0.739000	0.03678	0.000000	0.06391	0.785000	0.26813	0.339000	0.25409	0.0:0.2701:0.1459:0.584	5.776	0.17542	716	0.55970	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	.	.	.	.	.	.	.	.	0.3333	77.49	1	chr22	21387331	.	C	T	77.49	.	AC=2;AF=0.333;AN=6;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=25;QD=25.83;SOR=2.833	GT:AD:DP:GQ:PL	1/1:0,3:3:9:88,9,0	2	1	0	4
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	3049.25	65	chr22	23311788	.	T	TCCGG	3049.25	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.91;DP=565;ExcessHet=8.2628;FS=21.365;MLEAC=6;MLEAF=0.429;MQ=55.55;MQRankSum=-7.119;QD=5.72;ReadPosRankSum=1.15;SOR=1.923	GT:AD:DP:GQ:PL	0/1:81,41:122:99:1477,0,3238	1	0	6	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	724.04	81	chr22	23311830	.	G	A	724.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=4.03;DP=501;ExcessHet=2.5225;FS=34.125;MLEAC=4;MLEAF=0.286;MQ=57.74;MQRankSum=-9.243;QD=2.4;ReadPosRankSum=-2.988;SOR=3.372	GT:AD:DP:GQ:PL	0/1:71,21:92:99:450,0,1829	3	0	4	0
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	30.35	50	chr22	27983495	.	C	G	30.35	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.569;DP=400;ExcessHet=0.3476;FS=169.787;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.15;ReadPosRankSum=2.26;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,17:101:37:.:.:37,0,2766:.	3	0	2	2
chr22	29814731	29814731	C	A	exonic	ASCC2	.	nonsynonymous SNV	ASCC2:NM_001369942:exon4:c.G112T:p.G38W,ASCC2:NM_001369936:exon5:c.G304T:p.G102W,ASCC2:NM_001242906:exon6:c.G418T:p.G140W,ASCC2:NM_001369925:exon6:c.G487T:p.G163W,ASCC2:NM_001369927:exon6:c.G487T:p.G163W,ASCC2:NM_001369929:exon6:c.G487T:p.G163W,ASCC2:NM_001369930:exon6:c.G487T:p.G163W,ASCC2:NM_001369934:exon6:c.G304T:p.G102W,ASCC2:NM_001369937:exon6:c.G304T:p.G102W,ASCC2:NM_001369939:exon6:c.G304T:p.G102W,ASCC2:NM_001369941:exon6:c.G304T:p.G102W,ASCC2:NM_001369920:exon7:c.G646T:p.G216W,ASCC2:NM_001369924:exon7:c.G646T:p.G216W,ASCC2:NM_001369926:exon7:c.G487T:p.G163W,ASCC2:NM_001369933:exon7:c.G304T:p.G102W,ASCC2:NM_001369940:exon7:c.G304T:p.G102W,ASCC2:NM_032204:exon7:c.G646T:p.G216W,ASCC2:NM_001369922:exon8:c.G646T:p.G216W,ASCC2:NM_001369923:exon8:c.G646T:p.G216W,ASCC2:NM_001369928:exon8:c.G487T:p.G163W,ASCC2:NM_001369932:exon8:c.G304T:p.G102W,ASCC2:NM_001369935:exon8:c.G304T:p.G102W,ASCC2:NM_001369938:exon8:c.G304T:p.G102W,ASCC2:NM_001369921:exon9:c.G646T:p.G216W,ASCC2:NM_001369931:exon10:c.G304T:p.G102W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0252996592422	.	.	8.25e-06	0	8.655e-05	0	0	0	0	0	6.5e-06	1	154602	rs765501010	6.863e-07	6.84e-07	0	1.38e-06	2.269e-05	0	0	.	.	0	2.269e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.59928	D	0.022	0.59732	D	0.992	0.64738	D	0.888	0.63021	P	0.021594	0.26803	N	0.451684	0.962186	0.38276	D	0.895	0.22405	L	1.45	0.32482	T	-2.93	0.61865	D	0.524	0.55972	-0.9949	0.31326	T	0.076	0.30429	T	10	0.19475222	0.35300	T	0.025	0.48274	D	0.235	0.53788	0.395	0.42099	0.344483371355	0.34058	0.3621596705726186	0.36129	0.883813065649	0.69874	0.427679479122	0.28892	T	0.112928	0.42958	T	-0.165099	0.25980	T	-0.385199	0.35113	T	0.76538817388148	0.44165	D	0.886911	0.61435	D	0.06521602	0.13914	0.115432665	0.27865	0.06521602	0.13914	0.115432665	0.27864	-7.169	0.55259	T	.	.	0.177	0.38836	B	.;.;.;.	.;.;.;.	3.061870	0.41119	21.3	0.99512316255568178	0.68678	0.44704	0.27377	N	AEFDBI	0.277755	0.39219	N	0.146650997102453	0.48655	3.075002	0.110905874123434	0.45104	2.779688	0.987786127849943	0.31342	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	1.92	0.24912	0.636000	0.24333	0.568000	0.19578	0.599000	0.40250	0.847000	0.30396	0.084000	0.22431	0.995000	0.73285	0.1767:0.4628:0.1706:0.1898	1.437	0.02203	608	0.67185	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	364.44	41	chr22	29814731	.	C	A	364.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.783;DP=356;ExcessHet=0;FS=162.568;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=-0.314;SOR=7.475	GT:AD:DP:GQ:PL	0/1:126,41:167:99:375,0,2873	6	0	1	0
chr22	31096830	31096830	C	G	exonic	SMTN	.	nonsynonymous SNV	SMTN:NM_001207018:exon13:c.C2127G:p.H709Q,SMTN:NM_001382640:exon14:c.C1959G:p.H653Q,SMTN:NM_001382646:exon14:c.C1959G:p.H653Q,SMTN:NM_006932:exon14:c.C1959G:p.H653Q,SMTN:NM_134269:exon14:c.C1959G:p.H653Q,SMTN:NM_134270:exon14:c.C1959G:p.H653Q,SMTN:NM_001207017:exon15:c.C2214G:p.H738Q,SMTN:NM_001382641:exon15:c.C1959G:p.H653Q,SMTN:NM_001382644:exon15:c.C2121G:p.H707Q,SMTN:NM_001382648:exon15:c.C933G:p.H311Q,SMTN:NM_001382638:exon16:c.C1959G:p.H653Q,SMTN:NM_001382639:exon16:c.C1959G:p.H653Q,SMTN:NM_001382642:exon16:c.C2241G:p.H747Q,SMTN:NM_001382645:exon16:c.C2052G:p.H684Q,SMTN:NM_001382643:exon17:c.C2121G:p.H707Q	.	403	1113	5	1	0	7	0.0031348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0298225903156	.	0.00139776	0.0009	0	0.0003	0	0	0.0003	0	0.0077	0.0008473	131	154602	rs200403667	0.0006	0.0006	0.0003	0.0009	0.0084	0.0006	0.0006	0.0079	0.0077	9.161e-05	0.0001	0	0	0	0.0057	9.725e-05	0.0006	0.0084	0.0004	0.0004	0.0003	0.0006	0.0091	0.0003	0.0003	0.0070	0.0062	0	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0091	0.52	0.07259	T	1.0	0.02371	T	0.349	0.33622	B	0.097	0.33210	B	0.001896	0.37740	N	0.000000	0.926147	0.81001	D	0.695	0.17993	N	0.36	0.63911	T	-0.15	0.09297	N	0.245	0.33250	-1.0316	0.19937	T	0.070	0.28642	T	10	0.0052761734	0.00115	T	0.029823	0.52262	D	0.091	0.26358	0.144	0.04746	0.147330786459	0.14319	0.38785746747977096	0.38700	0.171971209939	0.19365	0.608809888363	0.54148	T	0.049196	0.28237	T	-0.475637	0.00785	T	-0.452689	0.27400	T	0.0277066118543751	0.01645	T	0.691131	0.31206	T	0.073355384	0.16386	0.05414864	0.09258	0.073355384	0.16386	0.05414864	0.09257	-6.112	0.47207	T	.	.	0.127	0.39116	B	.;.;.;.;.	.;.;.;.;.	1.866783	0.23715	16.12	0.87945878019854984	0.17600	0.52825	0.29224	D	AEFBI	0.184514	0.31184	N	-0.363713838557764	0.26771	1.463638	-0.177551880434253	0.32364	1.840537	0.99999963265305	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	4.51	3.38	0.37806	2.251000	0.42840	0.665000	0.20538	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.983000	0.59808	0.0:0.5427:0.4573:0.0	11.652	0.50553	632	0.64850	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.010101	0.000000	0.002924	0.000000	0.034483	0.006098	0.000000	0.07143	1319.44	33	chr22	31096830	.	C	G	1319.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.707;DP=299;ExcessHet=0;FS=1.445;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.355;SOR=0.836	GT:AD:DP:GQ:PL	0/1:60,58:118:99:1330,0,1556	6	0	1	0
chr22	32859360	32859360	A	G	exonic	TIMP3	.	nonsynonymous SNV	TIMP3:NM_000362:exon5:c.A619G:p.N207D	Sorsby fundus dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.0783703597073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.743	0.43037	P	0.225	0.38015	B	0.000334	0.45700	D	0.217153	1	0.81001	D	0.675	0.16386	N	-3.27	0.93640	D	1.84	0.00489	N	0.55	0.57604	-0.1986	0.77707	T	0.469	0.79551	T	10	0.4404115	0.58065	T	0.07837	0.72989	D	0.371	0.69016	0.434	0.48500	0.988365501475	0.98824	0.7080911960867787	0.70751	2.08813347033	0.94690	0.711563706398	0.68819	T	0.18809	0.54189	T	0.0165114	0.53910	T	-0.214059	0.53306	T	0.895162761211395	0.54667	D	0.806819	0.45619	T	0.08042395	0.18428	0.098040715	0.23359	0.08042395	0.18427	0.098040715	0.23359	-4.089	0.25128	T	.	.	0.379	0.58387	A	.	.	3.136924	0.42413	21.5	0.90233546813868637	0.19506	0.96823	0.71131	D	AEFDBCI	0.952361	0.96774	D	-0.212604054962369	0.32616	1.841335	-0.10660235350873	0.35122	2.028307	0.999906092196683	0.45458	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	3.91	2.85	0.32333	7.298000	0.78152	11.226000	0.89934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8416:0.0:0.0:0.1584	9.494	0.38143	833	0.38804	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	964.53	33	chr22	32859360	.	A	G	964.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.831;DP=249;ExcessHet=0;FS=1.973;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.874;SOR=0.474	GT:AD:DP:GQ:PL	0/1:42,38:80:99:975,0,1160	6	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	0.07143	1994.45	44	chr22	36141727	.	C	T	1994.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.135;DP=455;ExcessHet=0;FS=5.275;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.311;SOR=0.537	GT:AD:DP:GQ:PL	0/1:62,71:133:99:2005,0,1677	6	0	1	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.3571	2310.13	116	chr22	42128812	.	A	G	2310.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.178;DP=771;ExcessHet=4.7409;FS=10.746;MLEAC=5;MLEAF=0.357;MQ=51.48;MQRankSum=-5.697;QD=3.19;ReadPosRankSum=-4.081;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,32:162:99:0|1:42128812_A_G:952,0,5353:42128812	2	0	5	0
chr22	42128849	42128849	G	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.C448A:p.R150S,CYP2D6:NM_000106:exon4:c.C601A:p.R201S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0191161715555	.	.	0.0003	0.0002	0.0001	0	0	6.986e-05	0.0016	0.0016	.	.	.	rs774982812	6.738e-05	0.0001	2.051e-05	0.0001	0.0008	5.657e-05	5.198e-05	0.0006	0.0006	0.0001	0	0	0	0	0.0002	2.166e-05	6.661e-05	0.0008	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.249	0.17183	T	0.535	0.12107	T	.	.	.	.	.	.	0.643648	0.05882	N	1.221350	1	0.08975	N	1.89	0.50145	L	-0.29	0.67712	T	-1.43	0.35792	N	0.203	0.22486	-0.9473	0.41431	T	0.215	0.57626	T	10	0.06989348	0.10092	T	0.019116	0.41395	T	0.246	0.55340	.	.	0.324161360171	0.32030	0.5173619556389261	0.51659	0.135504829808	0.15275	0.215786740184	0.01081	T	0.004115	0.19053	T	-0.0845906	0.38967	T	-0.359285	0.38136	T	0.0521561838686466	0.05873	T	0.205379	0.18668	T	0.39107287	0.60108	0.121135496	0.29231	0.39107287	0.60109	0.121135496	0.29230	-7.294	0.58478	T	.	.	0.210	0.46619	B	.;.;.;.;.	.;.;.;.;.	0.412748	0.07838	4.531	0.72402539884290718	0.09961	0.02339	0.06686	N	AEFDBI	0.317622	0.42156	N	-1.25766900973309	0.04199	0.1890812	-1.4018528751687	0.03233	0.1504276	3.7690518559995E-4	0.06745	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.37	-3.18	0.04867	-1.946000	0.01626	-1.192000	0.06066	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3509:0.1555:0.2971:0.1966	0.475	0.00501	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	.	.	.	.	.	.	.	.	0.07143	1159.44	126	chr22	42128849	.	G	T	1159.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.379;DP=913;ExcessHet=0;FS=3.845;MLEAC=1;MLEAF=0.071;MQ=49.57;MQRankSum=-2.574;QD=4.51;ReadPosRankSum=1.69;SOR=0.486	GT:AD:DP:GQ:PL	0/1:180,77:257:99:1170,0,4175	6	0	1	0
chr22	42129036	42129036	A	C	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_000106:exon3:c.T502G:p.S168A	.	1	1438	82	1	0	84	0.0283784	.	.	.	2335774	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.226	0.0374404408606	.	.	5.046e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs1135826	7.432e-05	0.0003	6.98e-05	7.889e-05	0.0014	6.285e-05	5.842e-05	0.0007	0.0005	3.025e-05	6.805e-05	0.0002	0	0	0.0014	4.063e-05	0.0003	0.0003	0.0002	0.0014	0.0001	0.0002	0.0002	0.0001	8.847e-05	0.0001	0.0001	0.0002	0	6.584e-05	0	0	0	0.0034	0.0002	0	0	1.0	0.00964	T	0.807	0.04129	T	.	.	.	.	.	.	0.001903	0.00839	N	3.539820	1	0.08975	N	-0.73	0.01772	N	-1.27	0.79277	T	0.16	0.05217	N	0.128	0.13341	-0.7799	0.56308	T	0.115	0.40740	T	10	0.08526772	0.14379	T	0.03744	0.57615	D	0.226	0.52472	0.373	0.38503	0.298056030225	0.29408	0.21059068015497262	0.20975	0.0911008931681	0.10288	0.420034706593	0.27840	T	7.8E-4	0.03040	T	-0.140885	0.29750	T	-0.440148	0.28791	T	0.0133200469642442	0.00239	T	0.146485	0.01205	T	0.18169317	0.39352	0.08126632	0.18454	0.18169317	0.39351	0.08126632	0.18454	-1.576	0.01927	T	.	.	0.070	0.03625	B	.;.;.;.	.;.;.;.	-0.970736	0.00813	0.027	0.31847947949166644	0.01816	0.00025	0.00253	N	AEFDGBI	0.083503	0.16918	N	-2.07234760809253	0.00147	0.006303923	-1.9906736949729	0.00321	0.01415437	3.76170252761087E-4	0.06745	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.22	-0.285	0.12229	-0.679000	0.05304	-1.696000	0.04897	-2.376000	0.00301	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4003:0.4827:0.0:0.117	4.833	0.12812	106	0.95650	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1429	247.34	48	chr22	42129036	.	A	C	247.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.5;DP=469;ExcessHet=0.3476;FS=32.513;MLEAC=2;MLEAF=0.143;MQ=57.82;MQRankSum=-6.27;QD=1.63;ReadPosRankSum=-0.221;SOR=4.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,5:64:32:0|1:42129036_A_C:32,0,2442:42129036	5	0	2	0
chr22	42129037	42129037	G	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_000106:exon3:c.C501A:p.H167Q	.	1	1438	82	1	0	84	0.0283784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0114433325274	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1135825	6.054e-05	0.0003	6.431e-05	5.673e-05	0.0016	4.989e-05	4.653e-05	0.0008	0.0006	3.024e-05	4.533e-05	0.0002	0	0	0.0016	3.43e-05	0.0003	0.0001	0.0001	0.0014	0.0001	0.0002	0.0002	9.849e-05	8.347e-05	0.0001	0.0001	0.0002	0	6.569e-05	0	0	0	0.0034	0.0001	0	0	0.613	0.05420	T	0.754	0.06469	T	.	.	.	.	.	.	0.019125	0.01504	N	2.373600	1	0.18612	N	0.105	0.08473	N	-0.24	0.66834	T	-0.26	0.11185	N	0.128	0.12198	-0.9863	0.33518	T	0.097	0.36522	T	10	0.033819586	0.01569	T	0.011443	0.29067	T	0.107	0.30369	0.325	0.30711	0.284150004643	0.28039	0.2862462233970812	0.28537	0.111660899099	0.12603	0.421149164438	0.27995	T	7.32E-4	0.02125	T	-0.147423	0.28716	T	-0.44954	0.27747	T	0.0312476026732281	0.02185	T	0.392161	0.19325	T	0.15265977	0.34644	0.10768169	0.25927	0.15265977	0.34643	0.10768169	0.25927	-4.958	0.36381	T	.	.	0.150	0.33133	B	.;.;.;.	.;.;.;.	-1.649188	0.00217	0.003	0.53561482879806321	0.04964	0.01961	0.05950	N	AEFDGBI	0.236213	0.35870	N	-2.59474423185388	0.00009	0.0004161119	-2.63484367521019	0.00011	0.0004984315	0.599001188279606	0.21710	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.22	-6.44	0.01749	-3.995000	0.00358	-5.233000	0.01796	-0.839000	0.02805	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3374:0.1501:0.3861:0.1264	2.157	0.03582	106	0.95650	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	247.34	48	chr22	42129037	.	G	T	247.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=4.47;DP=464;ExcessHet=0.3476;FS=32.513;MLEAC=2;MLEAF=0.143;MQ=57.75;MQRankSum=-6.27;QD=1.63;ReadPosRankSum=-0.409;SOR=4.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,5:64:32:0|1:42129036_A_C:32,0,2442:42129036	5	0	2	0
chr22	42142544	42142544	G	T	exonic	CYP2D7	.	unknown	UNKNOWN	.	0	1521	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	.	.	0.0011	0.0010	0.0014	0	0	0.0005	0.0076	0.0023	.	.	.	rs768412534	0.0001	0.0002	7.609e-05	0.0002	0.0011	0.0001	0.0001	0.0009	0.0009	0.0005	4.754e-05	0	0	0	0.0007	6.006e-05	0.0003	0.0011	0.0002	0.0002	5.141e-05	0.0003	0.0023	0.0001	9.238e-05	0.0013	0.0010	0.0002	0	0	0	0	0	0.0034	5.882e-05	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.631300	0.05814	N	1.231090	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.13198	-1.0162	0.24948	T	0.046	0.19680	T	8	0.014012307	0.00295	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	0.028276	0.20519	T	-0.746996	0.00019	T	-0.886317	0.00604	T	0.016337875276804	0.00403	T	0.380262	0.09172	T	0.10906365	0.25786	0.05225052	0.08571	0.10906365	0.25786	0.05225052	0.08571	-7.273	0.56003	T	.	.	0.194	0.43653	B	.;.	.;.	6.528878	0.95355	34	0.94920503821113722	0.25793	0.00919	0.03578	N	AEFDGBI	0.030867	0.03188	N	-0.787275739174706	0.13640	0.6734604	-0.988665404427139	0.10039	0.5031472	0.136244163243197	0.17187	0.090766	0.02384	0	0.130567	0.03505	0	0.129117	0.03641	0	0.083433	0.02327	0	.	.	3.82	-1.84	0.07387	-1.551000	0.02282	-6.398000	0.01409	0.553000	0.28181	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2584:0.1562:0.2803:0.3051	0.214	0.00149	106	0.95650	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	430.44	42	chr22	42142544	.	G	T	430.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.26;DP=467;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=42.81;MQRankSum=-3.51;QD=4.18;ReadPosRankSum=-0.415;SOR=0.765	GT:AD:DP:GQ:PL	0/1:81,22:103:99:441,0,2259	6	0	1	0
chr22	42514305	42514305	C	A	splicing	RRP7A	NM_015703:exon6:c.559-1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0899406	0.63183	D	-0.108583	0.62724	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.790457	0.77735	26.8	0.9872903343392897	0.45318	0.95139	0.63581	D	AEFGBCI	.	.	.	0.80538703882862	0.86442	8.886916	0.558000330692622	0.71958	5.734454	0.99998548162519	0.51787	0.256867	0.04430	0	0.271743	0.05004	0	0.087233	0.02907	0	0.089868	0.02511	0	0.802683	0.47544	3.8	3.8	0.42887	5.872000	0.69384	7.361000	0.58346	0.426000	0.20854	1.000000	0.71638	1.000000	0.68203	0.031000	0.13245	0.0:1.0:0.0:0.0	16.018	0.80260	216	0.91608	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	40.4	18	chr22	42514305	.	C	A	40.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.623;DP=83;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.71;MQRankSum=-0.524;QD=4.04;ReadPosRankSum=0;SOR=1.609	GT:AD:DP:GQ:PL	0/1:8,2:10:50:50,0,220	5	0	1	1
chr22	46262091	46262091	G	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.C1232T:p.A411V	.	439	1075	8	0	0	8	0.00370714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	.	0.00898562	0.0050	0	0	0.0001	0	1.499e-05	0	0.0362	0.0042949	664	154602	rs548650819	0.0024	0.0024	0.0013	0.0034	0.0379	0.0023	0.0023	0.0369	0.0364	8.961e-05	2.236e-05	0	7.557e-05	0	0.0012	1.978e-05	0.0026	0.0379	0.0011	0.0012	0.0004	0.0019	0.0358	0.0010	0.0010	0.0314	0.0297	0	0	6.533e-05	0	0.0002	0	0	0	0.0005	0.0358	0.018	0.50676	D	0.037	0.51737	D	0.877	0.48223	P	0.56	0.49558	P	0.017974	0.27594	N	0.254049	1	0.08975	N	2.36	0.67893	M	-0.44	0.69777	T	-1.59	0.38345	N	0.186	0.20262	-0.7389	0.58509	T	0.279	0.65099	T	10	0.004831463	0.00103	T	.	.	.	0.190	0.46781	0.741	0.87317	0.636338961461	0.63335	0.624777415327211	0.62410	.	.	0.254787713289	0.04289	T	0.308003	0.68012	T	-0.427489	0.01535	T	-0.360375	0.38009	T	0.114089299615074	0.13842	T	0.772623	0.40374	T	0.09479906	0.22296	0.17239438	0.39491	0.09479906	0.22296	0.17239438	0.39490	-2.677	0.07112	T	.	.	0.177	0.38711	B	.	.	2.484032	0.32036	18.92	0.99887653632632756	0.96281	0.20967	0.21233	N	AEFDBI	0.067714	0.13324	N	-0.201417386125871	0.33075	1.872491	-0.376603856033024	0.25695	1.414709	0.999992476519673	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.78	2.55	0.29757	1.955000	0.39997	2.465000	0.32872	0.676000	0.76740	0.019000	0.19563	0.141000	0.23092	0.012000	0.09680	0.08:0.0:0.7765:0.1435	9.233	0.36609	942	0.12992	PKD/REJ-like domain|REJ 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	0.000000	0.000000	0.000000	0.000000	0.003049	0.018939	0.1429	3424.34	98	chr22	46262091	.	G	A	3424.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.167;DP=428;ExcessHet=0.3476;FS=0.921;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.03;SOR=0.755	GT:AD:DP:GQ:PL	0/1:86,86:172:99:2291,0,2211	5	0	2	0
chr22	50489748	50489748	C	G	exonic	MIOX	.	nonsynonymous SNV	MIOX:NM_017584:exon10:c.C750G:p.N250K	.	.	.	.	.	.	.	.	0.0004	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0792648203135	.	0.000399361	0.0004	0.0001	0.0002	0	0	1.554e-05	0.0011	0.0029	0.0003493	54	154602	rs2232886	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0	0	0	0	0	0	0	0.0002	0.0031	0.0001	0.0001	2.572e-05	0.0002	0.0033	7.092e-05	5.748e-05	0.0021	0.0017	0	0	6.542e-05	0	0	0	0	0	0	0.0033	0.001	0.78490	D	0.002	0.79402	D	0.925	0.51395	P	0.768	0.56752	P	0.000000	0.84330	D	0.047967	0.999996	0.58761	D	3.375	0.91388	M	.	.	.	-5.27	0.84175	D	0.861	0.85766	-0.8164	0.54158	T	0.286	0.65763	T	8	0.12096852	0.22923	T	0.079265	0.73194	D	0.622	0.85354	0.904	0.97943	0.143124449307	0.13826	0.8022113692393594	0.80175	0.184474526274	0.20751	0.633125782013	0.57588	T	0.523735	0.83392	D	-0.288456	0.09792	T	-0.191739	0.55427	T	0.301156518767718	0.25052	T	0.983802	0.94506	D	0.8222748	0.85373	0.6728926	0.80801	0.8222748	0.85375	0.6728926	0.80801	-13.056	0.89593	D	.	.	0.974	0.90120	P	.;.	.;.	3.301985	0.45331	22.1	0.95762450364042062	0.27754	0.95776	0.66105	D	AEFBI	0.587822	0.58533	D	0.334977666700224	0.57951	3.964808	0.247810992486201	0.52526	3.42678	0.222045805055596	0.18366	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.22	2.75	0.31439	1.478000	0.35050	0.704000	0.20870	-0.186000	0.09761	1.000000	0.71638	0.999000	0.35428	0.753000	0.35893	0.0:0.7056:0.0:0.2944	7.492	0.26638	794	0.45591	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	600.83	36	chr22	50489748	.	C	G	600.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.323;DP=236;ExcessHet=0;FS=1.047;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.157;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,26:53:99:611,0,655	6	0	1	0
chrX	6533921	6533921	G	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C385G:p.Q129E	.	543	966	2	0	11	13	0.00103413	.	.	.	215626	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	0.00100473547963	.	.	0.0006	0.0006	0	0.0002	0.0005	0.0008	0	0.0004	0.0003074	8	26028	rs139657007	0.0002	0.0006	0.0003	1.211e-05	0.0015	0.0002	0.0002	0.0005	0.0003	0.0002	0.0002	0.0004	3.458e-05	0.0011	0.0015	0.0002	0.0004	0.0001	0.0011	0.0016	0.0014	0	0.0018	0.0009	0.0008	0.0014	0.0012	0.0018	0	0.0007	0.0005	0	0.0009	0	0.0010	0	0.0006	0.681	0.04417	T	0.914	0.02926	T	0.02	0.18235	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	2.35	0.16217	T	-0.48	0.15379	N	0.073	0.04668	-0.9390	0.42774	T	0.019	0.08173	T	8	0.017632455	0.00378	T	0.001005	0.01073	T	0.021	0.04004	.	.	0.043077524339	0.03247	0.0013055078381560828	0.00120	0.28885402027	0.31292	0.460381567478	0.33362	T	9.57E-4	0.00501	T	-0.910172	0.00000	T	-1.09919	0.00028	T	0.00686715525122581	0.00078	T	0.454955	0.12997	T	0.1174931	0.27699	0.07922997	0.17819	0.1174931	0.27699	0.07922997	0.17818	-2.396	0.05108	T	.	.	0.036	0.00006	B	.	.	-1.616596	0.00232	0.004	0.22995920600298814	0.00951	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	7.2036496174935E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.428000	0.00527	-3.340000	0.02863	-3.294000	0.00099	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4896:0.2637:0.2466	3.380	0.06828	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.014630	0.025974	0.005780	0.006135	0.000000	0.024691	0.030864	0.025316	0.07143	89.83	38	chrX	6533921	.	G	C	89.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.332;DP=216;ExcessHet=0;FS=5.527;MLEAC=1;MLEAF=0.071;MQ=34.24;MQRankSum=0.563;QD=3.74;ReadPosRankSum=-3.344;SOR=2.303	GT:AD:DP:GQ:PL	0/1:19,5:24:99:100,0,405	6	0	1	0
chrX	13319621	13319621	T	C	exonic	ATXN3L	.	nonsynonymous SNV	ATXN3L:NM_001135995:exon1:c.A314G:p.D105G	.	365	1152	2	3	0	8	0.00346021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	0.00503311	0.0039	0	0.0002	0	0	2.122e-05	0	0.0328	0.0038551	596	154602	rs547199495	0.0016	0.0016	0.0010	0.0028	0.0309	0.0016	0.0015	0.0297	0.0292	3.789e-05	0	0	0	0	0.0019	1.901e-05	0.0018	0.0309	0.0006	0.0007	0.0003	0.0013	0.0253	0.0005	0.0005	0.0205	0.0188	6.456e-05	0	0	0	0	0	0	0	0.0007	0.0253	0.01	0.56456	D	0.07	0.43721	T	0.378	0.34287	B	0.449	0.46066	P	0.000000	0.84330	D	0.089513	0.99969	0.20694	N	3.135	0.88152	M	0.81	0.48460	T	-3.67	0.70191	D	0.065	0.03726	-0.8053	0.54831	T	0.188	0.53812	T	10	0.008230358	0.00187	T	.	.	.	0.099	0.28413	0.549	0.66436	0.548822617668	0.54539	0.8212071617201157	0.82077	0.146649929832	0.16552	0.232571691275	0.02164	T	0.131193	0.46053	T	-0.552479	0.00282	T	-0.543377	0.17966	T	0.110655824908194	0.13491	T	0.933207	0.74971	D	0.60974264	0.73214	0.35589406	0.61109	0.60974264	0.73215	0.35589406	0.61109	-11.06	0.79986	D	.	.	0.622	0.69799	P	.	.	2.181331	0.27801	17.59	0.98733965086881936	0.45393	0.14084	0.18214	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999583508853916	0.40607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.943	-0.291	0.12207	2.561000	0.45567	2.329000	0.32183	0.502000	0.22824	0.916000	0.31843	0.976000	0.30059	0.338000	0.25386	0.0:0.2593:0.0:0.7407	4.032	0.09197	937	0.14592	Josephin domain|Josephin domain|Josephin 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	.	.	.	.	.	.	.	.	0.1429	1911.02	39	chrX	13319621	.	T	C	1911.02	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.92;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,43:43:99:1|1:13319621_T_C:1931,130,0:13319621	6	1	0	0
chrX	13319624	13319641	ATGCCGAGCTTCTGATAT	-	exonic	ATXN3L	.	nonframeshift deletion	ATXN3L:NM_001135995:exon1:c.294_311del:p.E98_I104delinsD	.	364	1153	2	3	0	8	0.00345722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041	0	0.0002	0	0	2.12e-05	0	0.0348	0.0001153	3	26028	rs771053259	0.0016	0.0016	0.0010	0.0028	0.0308	0.0016	0.0015	0.0295	0.0290	3.789e-05	0	0	0	0	0.0019	1.901e-05	0.0018	0.0308	0.0006	0.0007	0.0003	0.0013	0.0246	0.0005	0.0005	0.0199	0.0182	6.453e-05	0	0	0	0	0	0	0	0.0007	0.0246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1911.98	39	chrX	13319623	.	AATGCCGAGCTTCTGATAT	A	1911.98	.	AC=2;AF=0.143;AN=14;DP=216;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.48;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,43:43:99:1|1:13319621_T_C:1932,130,0:13319621	6	1	0	0
chrX	15639743	15639743	G	A	exonic	CLTRN	.	nonsynonymous SNV	CLTRN:NM_020665:exon5:c.C331T:p.R111W	.	433	1086	2	1	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811	0.285291225988	.	.	0.0002	0	0	0	0	0	0	0.0016	0.0001682	26	154602	rs745828157	8.383e-05	8.469e-05	5.599e-05	0.0001	0.0016	6.949e-05	6.436e-05	0.0013	0.0012	7.752e-05	0	0	0	0	0.0002	3.584e-06	4.386e-05	0.0016	2.684e-05	2.613e-05	0	8.82e-05	0.0011	7.13e-06	2.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0011	0.0	0.91255	D	0.0	0.92824	D	0.925	0.51395	P	0.504	0.47761	P	0.000000	0.84330	D	0.000000	0.999854	0.49910	D	.	.	.	-2.58	0.89757	D	-7.2	0.94223	D	0.275	0.31140	0.634	0.92339	D	0.725	0.90593	D	10	0.78072584	0.77831	D	0.285291	0.90375	D	0.811	0.93892	0.862	0.95885	0.924954946498	0.92418	0.866917397727278	0.86656	0.0224495177129	0.02262	0.55689483881	0.46830	T	0.618455	0.88006	D	0.221187	0.75888	D	0.520316	0.95003	D	0.452037700448536	0.30872	T	0.882912	0.65471	D	0.9230264	0.93543	0.8988206	0.94892	0.9230264	0.93543	0.8988206	0.94893	-6.514	0.50394	T	.	.	0.412	0.60248	A	.;.	.;.	3.778606	0.54311	23.5	0.99865260518559174	0.94366	0.93734	0.59038	D	AEFI	.	.	.	.	.	.	.	.	.	0.100871804095471	0.16364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	4.67	0.58089	0.984000	0.29163	4.254000	0.42773	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8071:0.1929	13.829	0.62862	135	0.94622	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002065	0.000000	0.001855	0.000000	0.000000	0.000000	0.004425	0.005263	0.1429	902.27	34	chrX	15639743	.	G	A	902.27	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.22;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,28:28:84:923,84,0	6	1	0	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	801.71	22	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	*	801.71	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.247;DP=385;ExcessHet=0.2119;FS=10.417;MLEAC=4;MLEAF=0.4;MQ=59.89;MQRankSum=0;QD=11.62;ReadPosRankSum=1.97;SOR=1.72	GT:AD:DP:GQ:PL	1/1:0,11:11:74:988,74,0	3	1	1	2
chrX	27747324	27747325	GG	-	exonic	DCAF8L2	.	frameshift deletion	DCAF8L2:NM_001353450:exon5:c.429_430del:p.E144Gfs*17,DCAF8L2:NM_001353449:exon6:c.429_430del:p.E144Gfs*17,DCAF8L2:NM_001353448:exon7:c.429_430del:p.E144Gfs*17	.	429	1087	5	0	1	6	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	rs1491499307	0.0001	0.0002	0.0002	4.77e-05	0.0005	0.0001	9.498e-05	0.0003	0.0003	0	0.0004	0	0.0002	0	0	9.121e-05	0.0002	0.0005	0.0004	0.0006	0.0005	0.0002	0.0023	0.0003	0.0003	0.0016	0.0014	7.017e-05	0	0.0023	0	0	0	0	0.0003	0.0007	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	431.27	39	chrX	27747323	.	AGG	A	431.27	.	AC=2;AF=0.143;AN=14;DP=257;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.69;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,10:10:31:1|1:27747323_AGG_A:452,31,0:27747323	6	1	0	0
chrX	27747327	27747327	G	-	exonic	DCAF8L2	.	frameshift deletion	DCAF8L2:NM_001353450:exon5:c.432delG:p.E145Kfs*21,DCAF8L2:NM_001353449:exon6:c.432delG:p.E145Kfs*21,DCAF8L2:NM_001353448:exon7:c.432delG:p.E145Kfs*21	.	430	1086	5	0	1	6	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	rs766478913	0.0001	0.0002	0.0002	4.747e-05	0.0005	0.0001	9.385e-05	0.0003	0.0003	0	0.0004	0	0.0002	0	0	8.978e-05	0.0002	0.0005	0.0004	0.0006	0.0005	0.0002	0.0024	0.0003	0.0003	0.0016	0.0014	7.034e-05	0	0.0024	0	0	0	0	0.0003	0.0007	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	431.27	39	chrX	27747326	.	AG	A	431.27	.	AC=2;AF=0.143;AN=14;DP=267;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.89;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,10:10:31:1|1:27747323_AGG_A:452,31,0:27747323	6	1	0	0
chrX	40659236	40659236	C	G	exonic	MED14	.	nonsynonymous SNV	MED14:NM_004229:exon28:c.G3963C:p.K1321N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.17489678043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.112e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.895	0.49247	P	0.452	0.46163	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	1.495	0.37439	L	.	.	.	-2.46	0.67477	N	0.728	0.72925	-0.9858	0.33639	T	0.121	0.42079	T	9	0.45023692	0.58652	T	0.174897	0.85114	D	0.390	0.70603	0.391	0.41443	0.65440912122	0.65152	0.8579709212488796	0.85760	2.13339230401	0.95189	0.920231461525	0.98341	D	0.282649	0.65539	T	0.0206146	0.54464	T	-0.208165	0.53871	T	0.937414467334747	0.60718	D	0.971903	0.89805	D	0.74301934	0.80465	0.57960075	0.75634	0.74301934	0.80467	0.57960075	0.75635	-4.488	0.30731	T	.	.	0.939	0.91004	P	.;.;.	.;.;.	3.095469	0.41698	21.4	0.99746837329826044	0.83927	0.88740	0.48813	D	AEFBI	.	.	.	.	.	.	.	.	.	0.653678985306803	0.22192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.35	0.625	0.16838	0.563000	0.23250	0.590000	0.19811	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	1.000000	0.97212	0.0:0.4794:0.0:0.5206	9.651	0.39059	768	0.49510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	93.77	35	chrX	40659236	.	C	G	93.77	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.591;DP=581;ExcessHet=1.1394;FS=178.225;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.678;SOR=10.021	GT:AD:DP:GQ:PL	0/1:61,19:80:2:2,0,819	4	0	3	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L,TFE3:NM_006521:exon3:c.C320T:p.S107L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	56.34	42	chrX	49039321	.	G	A	56.34	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.337;DP=318;ExcessHet=1.383;FS=223.934;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=-0.631;SOR=8.086	GT:AD:DP:GQ:PL	0/1:30,9:39:23:23,0,456	3	0	3	1
chrX	52645512	52645512	G	T	exonic	SSX7	.	nonsynonymous SNV	SSX7:NM_173358:exon7:c.C498A:p.H166Q	.	574	921	19	8	0	35	0.0186468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00115581005071	0.0003	0.000794702	0.0015	0.0001	0.0007	0	0.0002	0.0010	0.0017	0.0088	0.0013519	209	154602	rs140270142	0.0008	0.0008	0.0006	0.0011	0.0076	0.0007	0.0007	0.0070	0.0067	0.0002	0.0004	5.181e-05	0	0.0002	0.0049	0.0004	0.0015	0.0076	0.0005	0.0005	0.0005	0.0004	0.0061	0.0004	0.0003	0.0037	0.0029	0	0	0.0003	0	0	0.0004	0.0187	0.0005	0.0007	0.0061	0.045	0.40832	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.981855	0.08089	N	0.990272	1	0.08975	N	1.735	0.44892	L	3.02	0.08986	T	-4.01	0.74193	D	0.083	0.05929	-1.0309	0.20163	T	0.043	0.18368	T	9	0.017364323	0.00370	T	0.001156	0.01434	T	0.043	0.11576	0.625	0.76028	0.124217242631	0.12060	0.019118630108168996	0.01865	0.0846703926005	0.09566	.	.	.	0.097019	0.39943	T	-0.780015	0.00011	T	-0.889907	0.00576	T	0.0632977574388991	0.07678	T	0.628437	0.24364	T	0.31683895	0.54371	0.30969945	0.56983	0.31683895	0.54371	0.30969945	0.56983	-3.555	0.17211	T	.	.	0.291	0.52276	B	.	.	1.133374	0.15202	11.67	0.90510151936288608	0.19766	0.00137	0.00841	N	AEFI	.	.	.	.	.	.	.	.	.	2.57898012659665E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	-1.08	0.09428	0.126000	0.15597	-2.284000	0.03952	-0.551000	0.04898	0.001000	0.13787	0.000000	0.08366	0.117000	0.19042	.	.	.	484	0.77165	SSXRD motif	.	.	.	.	.	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	0.006700	0.000000	0.005629	0.005952	0.000000	0.012048	0.006061	0.011976	0.1429	1147.63	22	chrX	52645512	.	G	T	1147.63	.	AC=2;AF=0.143;AN=14;DP=193;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=38.69;QD=32.79;SOR=1.675	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1168,105,0	6	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	0.6429	77347.4	456	chrX	55146104	.	G	A	77347.4	.	AC=9;AF=0.643;AN=14;BaseQRankSum=1.09;DP=3383;ExcessHet=4.7409;FS=0.72;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=23.53;ReadPosRankSum=0.916;SOR=0.605	GT:AD:DP:GQ:PL	1/1:47,582:629:99:16410,526,0	0	2	5	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.2143	7311.37	432	chrX	55146139	.	G	A	7311.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.007;DP=3394;ExcessHet=1.1394;FS=0.599;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=4.84;ReadPosRankSum=1.14;SOR=0.581	GT:AD:DP:GQ:PL	0/1:367,281:648:99:6464,0,9645	4	0	3	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	0.2857	7932.13	432	chrX	55146173	.	G	A	7932.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.6;DP=3372;ExcessHet=2.5225;FS=1.254;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=0.486;SOR=0.613	GT:AD:DP:GQ:PL	0/1:377,253:630:99:5997,0,10258	3	0	4	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.2857	6567.13	367	chrX	55146197	.	G	A	6567.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=2.82;DP=3136;ExcessHet=2.5225;FS=1.3;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=1.02;SOR=0.703	GT:AD:DP:GQ:PL	0/1:342,190:532:99:4650,0,9820	3	0	4	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71907.1	363	chrX	55146212	.	C	T	71907.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.54;DP=3046;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.81;ReadPosRankSum=0.683;SOR=0.621	GT:AD:DP:GQ:PL	0/1:69,408:477:99:13469,0,557	0	0	7	0
chrX	55146214	55146214	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C221T:p.P74L,FAM104B:NM_001166700:exon3:c.C221T:p.P74L,FAM104B:NM_001166701:exon3:c.C218T:p.P73L,FAM104B:NM_001166702:exon3:c.C209T:p.P70L,FAM104B:NM_001166703:exon3:c.C215T:p.P72L,FAM104B:NM_138362:exon3:c.C218T:p.P73L	.	380	1100	41	1	0	43	0.0191708	.	.	.	2333934	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00876998388438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866839768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.13789	T	0.12	0.67890	T	0.945	0.53279	P	0.851	0.71530	P	0.873191	0.07189	N	1.077440	1	0.08975	N	1.04	0.26193	L	1.07	0.39586	T	-0.45	0.14782	N	0.139	0.13769	-0.9995	0.30058	T	0.112	0.40029	T	10	0.054038584	0.05690	T	0.00877	0.23147	T	0.035	0.08770	0.339	0.32979	0.0920862733494	0.08535	0.15662812420360386	0.15583	0.455486312176	0.45221	0.226637601852	0.01728	T	0.01433	0.12223	T	-0.410012	0.01987	T	-0.826731	0.01321	T	0.0581960721379313	0.06881	T	0.710329	0.32115	T	0.04068161	0.05853	0.05239224	0.08621	0.04068161	0.05853	0.05239224	0.08621	-2.044	0.03351	T	.	.	0.102	0.18122	B	.;.;.;.;.	.;.;.;.;.	0.045960	0.04608	1.277	0.77836609989061178	0.12043	0.01031	0.03865	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999987030541589	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.4	0.11793	0.840000	0.27253	-1.999000	0.04367	0.596000	0.33519	0.027000	0.20232	0.000000	0.08366	0.112000	0.18829	0.2252:0.0:0.4531:0.3218	1.897	0.03062	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	.	.	.	.	.	.	.	.	0.07143	1857.44	285	chrX	55146214	.	G	A	1857.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.98;DP=2662;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.98;ReadPosRankSum=0.262;SOR=0.702	GT:AD:DP:GQ:PL	0/1:368,99:467:99:1868,0,11432	6	0	1	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	6361.13	283	chrX	55146242	.	C	T	6361.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.016;DP=2488;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=4.22;ReadPosRankSum=0.945;SOR=0.691	GT:AD:DP:GQ:PL	0/1:314,61:375:99:755,0,11126	3	0	4	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.2857	5365.13	241	chrX	55146247	.	G	C	5365.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.165;DP=2350;ExcessHet=2.5225;FS=0.657;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=-0.657;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,109:355:99:0|1:55146247_G_C:3708,0,9890:55146247	3	0	4	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5298.09	241	chrX	55146252	.	A	AT	5298.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.55;DP=2302;ExcessHet=2.5225;FS=0.655;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=-1.221;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:243,105:348:99:0|1:55146247_G_C:3596,0,9801:55146247	3	0	4	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	46390.1	239	chrX	55146254	.	T	C	46390.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.127;DP=2318;ExcessHet=14.2834;FS=2.658;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=-0.102;SOR=0.514	GT:AD:DP:GQ:PL	0/1:172,161:333:99:4344,0,6370	0	0	7	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5246.09	181	chrX	55146255	.	TG	T	5246.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.588;DP=2026;ExcessHet=2.5225;FS=0.657;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=-1.383;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,100:330:99:0|1:55146247_G_C:3507,0,9345:55146247	3	0	4	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	45507.1	184	chrX	55146275	.	T	G	45507.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.077;DP=1901;ExcessHet=14.2834;FS=7.332;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.06;ReadPosRankSum=-2.887;SOR=0.338	GT:AD:DP:GQ:PL	0/1:65,202:267:99:7387,0,1882	0	0	7	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	7945.13	159	chrX	55146283	.	C	T	7945.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.228;DP=1737;ExcessHet=2.5225;FS=0.585;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=6.06;ReadPosRankSum=-0.29;SOR=0.61	GT:AD:DP:GQ:PL	0/1:188,23:211:95:95,0,6168	3	0	4	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	0.1667	477.79	95	chrX	74591813	.	G	A	477.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.651;DP=333;ExcessHet=0.4139;FS=2.098;MLEAC=2;MLEAF=0.167;MQ=57.32;MQRankSum=-7.173;QD=3.54;ReadPosRankSum=-1.173;SOR=1.059	GT:AD:DP:GQ:PL	0/1:59,12:71:99:200,0,1830	4	0	2	1
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	0.2857	3271.13	272	chrX	74591904	.	A	G	3271.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.883;DP=749;ExcessHet=2.5225;FS=3.458;MLEAC=4;MLEAF=0.286;MQ=57.99;MQRankSum=-11.57;QD=5.1;ReadPosRankSum=4.34;SOR=0.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,47:176:99:0|1:74591902_T_A:1585,0,5270:74591902	3	0	4	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	0.1429	1814.34	40	chrX	74591957	.	C	T	1814.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.454;DP=573;ExcessHet=0.3476;FS=9.041;MLEAC=2;MLEAF=0.143;MQ=58.48;MQRankSum=-12.07;QD=4.44;ReadPosRankSum=-3.523;SOR=1.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,35:214:99:0|1:74591902_T_A:931,0,7391:74591902	5	0	2	0
chrX	85108127	85108127	G	T	exonic	SATL1	.	nonsynonymous SNV	SATL1:NM_001012980:exon1:c.C842A:p.A281E,SATL1:NM_001367857:exon3:c.C842A:p.A281E,SATL1:NM_001367858:exon7:c.C842A:p.A281E	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00211611155476	.	.	5.697e-05	0	0	0	0	0	0	0.0005	3.84e-05	1	26028	rs781018781	1.821e-05	1.821e-05	1.089e-05	3.302e-05	0.0004	1.189e-05	9.67e-06	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0004	2.686e-05	2.612e-05	0	8.857e-05	0.0011	7.14e-06	2.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0011	0.191	0.21066	T	0.326	0.19304	T	0.067	0.23653	B	0.018	0.18489	B	0.514862	0.05168	N	1.430080	1	0.08975	N	1.59	0.40313	L	0.94	0.43672	T	-0.78	0.40660	N	0.026	0.06190	-1.0498	0.14453	T	0.061	0.25528	T	10	0.03330058	0.01502	T	0.002116	0.03908	T	0.049	0.13647	0.221	0.14371	0.32580497728	0.32196	0.14964167906036815	0.14886	0.132609855297	0.14944	0.174667343497	0.00055	T	0.00692	0.06344	T	-0.631615	0.00093	T	-0.841919	0.01070	T	0.0280016162343583	0.01689	T	0.345765	0.07588	T	0.09307618	0.21852	0.14792262	0.34987	0.09307618	0.21852	0.14792262	0.34986	.	.	.	.	.	0.142	0.36633	B	.;.;.;.;.	.;.;.;.;.	0.444834	0.08149	4.882	0.32656806627588253	0.01904	0.05201	0.11025	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995869170297839	0.34373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7	-4.28	0.03475	-1.316000	0.02818	-3.279000	0.02911	-0.260000	0.06918	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2153:0.2771:0.363:0.1446	1.525	0.02371	889	0.27310	.;.;.;.;.	.	.	.	.	.	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	6916.22	39	chrX	85108127	.	G	T	6916.22	.	AC=2;AF=0.143;AN=14;DP=351;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=59.7;QD=28.69;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,158:158:99:1|1:85108127_G_T:6937,476,0:85108127	6	1	0	0
chrX	136322865	136322865	G	A	exonic	ADGRG4	.	nonsynonymous SNV	ADGRG4:NM_153834:exon5:c.G158A:p.S53N	.	437	1078	5	2	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00816938077981	.	0.0010596	0.0002	0	0.0003	0	0	0.0003	0	0.0001	0.0002393	37	154602	rs145927330	0.0004	0.0004	0.0004	0.0004	0.0068	0.0003	0.0003	0.0048	0.0042	0.0004	0.0010	0.0008	0	0	0.0068	0.0003	0.0010	9.243e-05	0.0006	0.0006	0.0006	0.0005	0.0043	0.0005	0.0004	0.0033	0.0029	0.0002	0	0.0043	0.0011	0	0	0	0.0002	0.0020	0	0.002	0.72154	D	0.012	0.63918	D	0.801	0.45051	P	0.598	0.50679	P	.	.	.	.	1	0.08975	N	.	.	.	3.34	0.06063	T	-1.16	0.29727	N	0.197	0.21710	-1.0088	0.27292	T	0.021	0.08870	T	9	0.0124438405	0.00267	T	0.008169	0.21649	T	0.043	0.11576	.	.	0.215109475489	0.21095	0.39770886617482226	0.39685	0.254578666066	0.28029	0.333193838596	0.15415	T	0.010705	0.09641	T	-0.733683	0.00023	T	-0.905923	0.00462	T	0.0906736806679093	0.11298	T	0.481352	0.14557	T	0.41108593	0.61492	0.26202172	0.51988	0.41108593	0.61493	0.26202172	0.51987	-3.847	0.21508	T	.	.	0.180	0.39220	B	.;.	.;.	2.742079	0.35919	20.1	0.98753762340551643	0.45694	0.32198	0.24526	N	AEFI	.	.	.	.	.	.	.	.	.	0.00908787293553599	0.11793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.85	0.501	0.16130	0.915000	0.28260	2.984000	0.35852	0.676000	0.76740	0.943000	0.32764	0.999000	0.35428	0.999000	0.91618	0.166:0.1216:0.4313:0.2811	2.072	0.03395	799	0.44747	.;.	.	.	.	.	.	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	0.004824	0.020408	0.000000	0.003953	0.000000	0.011765	0.004425	0.005263	0.1429	2496.22	33	chrX	136322865	.	G	A	2496.22	.	AC=2;AF=0.143;AN=14;DP=264;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.6;SOR=1.207	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2517,237,0	6	1	0	0
chrX	151743324	151743324	G	A	exonic	CNGA2	.	nonsynonymous SNV	CNGA2:NM_005140:exon7:c.G821A:p.R274H	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.911	0.718277477516	0.0013	0.000529801	0.0008	0.0001	0.0010	0	0	0.0012	0.0016	0.0006	0.0007438	115	154602	rs151204211	0.0009	0.0009	0.0010	0.0008	0.0022	0.0009	0.0009	0.0011	0.0008	0.0003	0.0008	0.0075	0	0	0.0022	0.0009	0.0015	0.0002	0.0008	0.0008	0.0008	0.0006	0.0010	0.0006	0.0006	0.0008	0.0007	0.0002	0	0.0008	0.0062	0	0	0	0.0010	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999941	0.51968	D	4.145	0.97549	H	-4.32	0.97218	D	-4.7	0.79829	D	0.165	0.17416	1.072	0.98642	D	0.963	0.98800	D	10	0.028111547	0.00947	T	0.718277	0.97718	D	0.911	0.97624	.	.	0.917678485018	0.91684	0.947613690424336	0.94744	0.130659878838	0.14740	0.706163406372	0.68036	T	0.910382	0.98308	D	0.210525	0.74879	D	0.479187	0.94188	D	0.186637766624428	0.19644	T	0.958004	0.84234	D	0.9715778	0.98406	0.90619135	0.95418	0.9715778	0.98406	0.90619135	0.95418	-12.495	0.87178	D	.	.	0.820	0.78225	P	.	.	4.688818	0.75117	26.3	0.99924133276250848	0.98980	0.97415	0.74604	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.996905044360381	0.35104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.09	4.23	0.49319	7.768000	0.84170	7.699000	0.66186	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0957:0.0:0.9043:0.0	10.852	0.45983	758	0.50837	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.1429	4016.22	37	chrX	151743324	.	G	A	4016.22	.	AC=2;AF=0.143;AN=14;DP=323;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.89;SOR=1.005	GT:AD:DP:GQ:PL	1/1:0,130:130:99:4037,389,0	6	1	0	0