Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	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.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	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.1	CADD_raw_rankscore	CADD_phred.1	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.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	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.1	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	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES954	WT	HH	HZ	NC
chr1	6445936	6445936	G	A	splicing	ESPN	NM_001367473:exon7:c.1464+1G>A;NM_001367474:exon7:c.1464+1G>A;NM_031475:exon7:c.1464+1G>A	.	.	Deafness, autosomal recessive 36, Autosomal recessive;Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)	YES	.	.	.	.	.	.	.	1.0000	0.944	442877	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_36	MedGen:C3661900|MONDO:MONDO:0012170,MedGen:C1837007,OMIM:609006,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.566	18.17	4.35	2.250	6.153	15.62	.	.	.	.	1.721e-05	0	0	0	0	1.571e-05	0	6.187e-05	1.29e-05	2	154602	rs752649606	1.233e-05	1.231e-05	5.45e-06	1.927e-05	0.0002	7.7e-06	6.36e-06	0.0001	8.655e-05	0	0	0	0	0	0	8.995e-07	3.314e-05	0.0002	1.315e-05	1.313e-05	0	2.69e-05	0.0004	2.19e-06	8.2e-07	7.307e-05	3.035e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17297	0.71396	D	0.214283	0.83886	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.117038	0.94599	34	0.99545362843443475	0.70773	0.77108	0.37877	D	AEFGBCI	.	.	.	0.99641452250496	0.95632	13.80947	0.804337271990419	0.90091	10.25321	0.9999999999998	0.74766	0.056701	0.00814	0	0.063554	0.01753	0	0.074216	0.02223	0	0.079188	0.02158	0	0.956349	0.63754	4.35	4.35	0.51454	4.900000	0.62939	9.645000	0.81157	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:0.0:1.0:0.0	15.62	0.76548	834	0.38640	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1199.98	34	chr1	6445936	.	G	A	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.844e+00;DP=831;ExcessHet=0.0000;FS=1.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=1.11;QD=11.01;ReadPosRankSum=-1.019e+00;SOR=0.504	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1214,0,1083	20	0	1	0
chr1	94010911	94010911	T	A	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon40:c.A5603T:p.N1868I,	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	YES	0	1394	119	9	0	137	0.0468376	.	.	105279	Macular_degeneration|Retinitis_pigmentosa|Age_related_macular_degeneration_2|Cone-Rod_Dystrophy,_Recessive|Retinitis_Pigmentosa,_Recessive|Cone-rod_dystrophy_3|ABCA4-related_disorder|Stargardt_Disease,_Recessive|Severe_early-childhood-onset_retinal_dystrophy|not_provided|not_specified|Stargardt_disease	Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|MedGen:CN239309|MedGen:CN239466|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|MedGen:CN239167|MedGen:CN239312|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.598	P	0.392	B	0.002	N	1.000	D	2.545	M	-2.37	D	0.661	D	0.728	D	0.332	1.853	12.15	4.76	2.111	3.348	14.708	0.402	.	0.0477	0.0207668	0.0446	0.0105	0.0248	0	0.0411	0.0657	0.0420	0.0192	0.045394	7018	154602	rs1801466	0.0574	0.0574	0.0583	0.0565	0.0674	0.0571	0.0569	0.0670	0.0668	0.0086	0.0224	0.0319	5.038e-05	0.0402	0.0447	0.0674	0.0465	0.0190	0.0404	0.0403	0.0427	0.0380	0.0663	0.0395	0.0392	0.0647	0.0641	0.0112	0.0581	0.0261	0.0340	0	0.0406	0.0544	0.0663	0.0347	0.0160	0.001	0.78490	D	0.011	0.69154	D	0.459	0.36338	P	0.175	0.35598	B	0.002461	0.36537	N	0.321128	0.999788	0.81001	D	2.415	0.69758	M	-2.88	0.91533	D	-4.91	0.81595	D	0.209	0.51672	0.661	0.92685	D	0.728	0.90701	D	10	0.0069182813	0.00157	T	.	.	.	0.402	0.71558	.	.	.	.	0.7971400618589359	0.79667	0.412325355486	0.41975	0.317802816629	0.13088	T	0.671782	0.93558	D	-0.266919	0.12103	T	-0.103538	0.63123	T	0.0502051629063343	0.05536	T	0.887111	0.61484	D	0.74764305	0.80732	0.70142317	0.82406	0.7912946	0.83356	0.7233697	0.83664	-9.325	0.69763	D	.	.	0.216	0.45433	B	.;.	.;.	2.915032	0.38680	20.8	0.9199950111978572	0.21334	0.97269	0.73696	D	AEFBI	0.603337	0.59485	D	0.0262651168874368	0.43051	2.605779	-0.0309068510218861	0.38327	2.256456	0.999999997282578	0.74766	0.516011	0.20929	0	0.563428	0.19063	0	0.563428	0.18855	0	0.586402	0.36253	0	.	.	4.76	4.76	0.60189	3.423000	0.52517	2.833000	0.35033	0.609000	0.47794	0.992000	0.37556	0.996000	0.32793	0.175000	0.21139	0.0:0.0:0.0:1.0	14.708	0.68820	398	0.82839	.;.	TMED5	Testis	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5834.11	72	chr1	94010911	.	T	A	5834.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.443;DP=1303;ExcessHet=0.1072;FS=0.525;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-5.960e-01;SOR=0.784	GT:AD:DP:GQ:PL	0/1:136,123:259:99:2932,0,3240	19	0	2	0
chr1	158618068	158618068	G	A	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	YES	3	913	508	98	0	704	0.278261	0.0005	0.264	249428	Elliptocytosis_2|Pyropoikilocytosis,_hereditary|not_specified|not_provided|Hemolytic_anemia|Hereditary_spherocytosis_type_3	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2491	0.227835	0.2564	0.1998	0.1610	0.1912	0.3018	0.2874	0.2617	0.2473	0.255081	39436	154602	rs28525570	0.2712	0.2729	0.2704	0.2720	0.2797	0.2705	0.2702	0.2788	0.2785	0.1970	0.1760	0.3492	0.2025	0.2895	0.2419	0.2797	0.2632	0.2453	0.2538	0.2539	0.2524	0.2553	0.2882	0.2517	0.2508	0.2848	0.2834	0.1983	0.2286	0.2184	0.3417	0.1855	0.3091	0.3265	0.2882	0.2640	0.2447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16533.11	113	chr1	158618068	.	G	A	16533.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.748;DP=1490;ExcessHet=1.3217;FS=0.000;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.52;ReadPosRankSum=0.297;SOR=0.671	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1205,0,1255	10	2	9	0
chr1	158627717	158627717	G	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon40:c.C5572G:p.L1858V,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	YES	5	902	520	95	0	710	0.282418	.	.	249434	Elliptocytosis_2|Pyropoikilocytosis,_hereditary|not_specified|Hemolytic_anemia|Hereditary_spherocytosis_type_3|not_provided	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.601	P	0.395	B	0.296	N	0.032	P	2.3	M	0.82	T	-1.004	T	0.100	T	0.16	2.108	13.00	2.68	0.451	2.457	10.249	0.176	.	0.2495	0.227835	0.2567	0.2000	0.1610	0.1910	0.3021	0.2878	0.2617	0.2475	0.255042	39430	154602	rs3737515	0.2731	0.2734	0.2725	0.2737	0.2819	0.2723	0.2721	0.2810	0.2807	0.1983	0.1760	0.3506	0.2028	0.2894	0.2433	0.2819	0.2648	0.2460	0.2536	0.2539	0.2523	0.2550	0.2882	0.2515	0.2506	0.2848	0.2834	0.1981	0.2286	0.2176	0.3430	0.1851	0.3087	0.3207	0.2882	0.2621	0.2442	0.009	0.57480	D	0.019	0.59159	D	0.601	0.39346	P	0.395	0.44317	B	0.295829	0.14686	N	0.398187	0.0322052	0.38617	P	2.66	0.77858	M	0.82	0.48142	T	-2.39	0.52612	N	0.242	0.27316	-1.0044	0.28636	T	0.100	0.37162	T	9	0.0018082857	0.00024	T	.	.	.	0.176	0.44373	.	.	.	.	0.10204742782828059	0.10134	0.151848470416	0.17138	0.413743078709	0.26975	T	0.398082	0.75628	T	-0.578861	0.00196	T	-0.46045	0.26549	T	0.0265270473936109	0.01477	T	0.989945	0.96848	D	0.47455317	0.65569	0.45098418	0.68054	0.5292539	0.68789	0.3938572	0.64094	-7.424	0.57073	T	0.4696991537525536	0.55038	0.119	0.24430	B	.;.	.;.	2.721452	0.35600	19.94	0.99057226967889789	0.51390	0.97183	0.73178	D	AEFBI	0.628036	0.61027	D	-0.0876209270705267	0.37935	2.214285	-0.10368608914381	0.35242	2.036537	0.00115487049960551	0.08283	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.55	2.68	0.30839	2.724000	0.46956	1.029000	0.23465	-0.106000	0.15538	1.000000	0.71638	0.238000	0.23831	0.191000	0.21631	0.2184:0.0:0.7816:0.0	10.249	0.42538	645	0.63593	.;.	CD1B	Whole_Blood	SPTA1|SPTA1	Testis|Whole_Blood	rs3737515	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.3095	21434.11	139	chr1	158627717	.	G	C	21434.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-1.463e+00;DP=1772;ExcessHet=1.3217;FS=0.539;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=-2.220e-01;SOR=0.753	GT:AD:DP:GQ:PL	0/1:55,68:123:99:1644,0,1366	10	2	9	0
chr1	158678434	158678434	A	G	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon6:c.T779C:p.L260P,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	27883	Elliptocytosis_2|not_provided	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.024	N	1.000	A	3.42	M	-1.43	T	0.642	D	0.700	D	0.966	2.859	15.52	4.66	2.080	8.035	13.354	0.839	0.242826543064	.	.	2.488e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs121918634	6.842e-06	6.84e-06	5.446e-06	8.252e-06	0.0002	3.46e-06	2.52e-06	0.0001	8.684e-05	0.0002	0	0	0	0	0	0	3.313e-05	0	5.256e-05	5.253e-05	3.853e-05	6.725e-05	0.0002	2.557e-05	1.83e-05	9.563e-05	6.961e-05	0.0002	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.024363	0.26274	N	0.000000	1	0.81001	A	3.555	0.93317	H	-1.43	0.80730	T	-6.32	0.90852	D	0.929	0.93370	0.642	0.92447	D	0.700	0.89672	D	9	0.9909502	0.99610	D	0.242827	0.88776	D	0.839	0.94952	0.908	0.98109	0.961458484432	0.96104	0.9090546975298317	0.90879	0.26085393997	0.28643	0.527930021286	0.42742	T	0.721158	0.92121	D	0.229597	0.76683	D	0.371459	0.91123	D	0.975009918212891	0.70747	D	0.565643	0.19997	T	0.9721399	0.98456	0.9374833	0.97601	0.9683769	0.98107	0.9529345	0.98574	-14.304	0.94003	D	0.769383698944818	0.85050	0.928	0.84870	P	.;.	.;.	3.496289	0.48898	22.7	0.99791721544089274	0.87750	0.95258	0.64026	D	AEFBCI	0.962700	0.98439	D	0.628944081631176	0.75013	6.231428	0.443688455940145	0.64311	4.684	0.99989123174347	0.45129	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.66	4.66	0.57857	8.481000	0.90279	11.256000	0.90911	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.167000	0.20881	1.0:0.0:0.0:0.0	13.354	0.60061	637	0.64373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	796.98	33	chr1	158678434	.	A	G	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.056;DP=787;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.76;ReadPosRankSum=0.072;SOR=0.657	GT:AD:DP:GQ:PL	0/1:53,38:91:99:811,0,1259	20	0	1	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	YES	467	200	364	491	0	1346	0.770905	1.0000	0.918	249563	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified|not_provided	MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	1.765	11.86	5.26	2.598	4.200	14.730	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	32697.54	93	chr1	179889309	.	G	A	32697.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=0.720;DP=1629;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=21.37;ReadPosRankSum=0.266;SOR=0.619	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1155,0,1378	2	11	8	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	YES	207	250	453	612	0	1677	0.770326	.	.	278205	Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Age_related_macular_degeneration_4|Atypical_hemolytic-uremic_syndrome	MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	P	.	.	-0.03	T	-1.007	T	0.000	T	0.041	-2.252	0.004	-9.09	-4.010	-6.715	2.071	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;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	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	1	0	0.6429	62931.18	182	chr1	196690107	.	C	T	62931.18	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.049;DP=3170;ExcessHet=3.1640;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=27;MLEAF=0.643;MQ=59.99;MQRankSum=0.00;QD=20.84;ReadPosRankSum=-4.090e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:83,66:151:99:1649,0,2223	2	8	11	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q,	.	YES	440	2	22	1058	0	2138	0.998133	.	.	1704217	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	0.484	N	1.000	P	-0.345	N	1.98	T	-1.012	T	0.000	T	0.024	1.017	9.155	-4.95	-0.777	-0.899	2.079	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	1.0	76821.81	101	chr1	226735804	.	G	T	76821.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.84;DP=2407;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=33.21;ReadPosRankSum=1.53;SOR=0.318	GT:AD:DP:GQ:PL	1/1:0,122:122:99:4040,366,0	0	21	0	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I,	Cystinuria, Autosomal recessive, Autosomal dominant	YES	1	171	630	720	0	2070	0.858209	.	.	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.78	T	0.001	B	0.001	B	0.120	N	1.000	P	1.095	L	-4.41	D	-0.903	T	0.000	T	0.046	0.686	7.667	-1.37	0.140	-0.163	2.100	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.8333	74868.88	116	chr2	44320435	.	G	A	74868.88	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-1.187e+00;DP=2972;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=25.99;ReadPosRankSum=0.083;SOR=0.687	GT:AD:DP:GQ:PL	0/1:68,80:148:99:2164,0,1843	0	14	7	0
chr2	47476566	47476566	C	T	exonic	MSH2	.	synonymous SNV	MSH2:NM_000251:exon13:c.C2205T:p.I735I	Colorectal cancer, hereditary nonpolyposis, type 1, Autosomal dominant;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	YES	0	1519	3	0	0	3	0.000986518	.	.	141958	Lynch_syndrome|not_provided|Breast_and/or_ovarian_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome_1	MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MedGen:C3661900|MedGen:CN221562|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0015	0	0.0002	0	0	1.499e-05	0.0022	0.0109	0.0013713	212	154602	rs533553381	0.0008	0.0008	0.0004	0.0011	0.0122	0.0007	0.0007	0.0116	0.0114	5.974e-05	0	0.0003	5.038e-05	0	0.0005	2.698e-06	0.0008	0.0122	0.0004	0.0004	0.0002	0.0007	0.0126	0.0003	0.0003	0.0101	0.0092	2.407e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	1	0.02381	2451.98	50	chr2	47476566	.	C	T	2451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.532;DP=1461;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.270;SOR=0.679	GT:AD:DP:GQ:PL	0/1:112,99:211:99:2466,0,2925	20	0	1	0
chr2	178709578	178709578	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon96:c.A25009G:p.I8337V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	0	1519	3	0	0	3	0.000986518	.	.	173342	Dilated_cardiomyopathy_1G|TTN-related_disorder|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Supraventricular_tachycardia|Tibial_muscular_dystrophy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|.|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.002	B	.	.	1.000	D	-1.025	N	1.23	T	-1.067	T	0.032	T	0.267	0.374	6.030	-0.833	-0.355	0.340	12.287	0.066	0.0104756147227	0.0002	.	0.0002	0	8.772e-05	0	0	0.0002	0.0011	0	0.0001294	20	154602	rs371826762	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0002	0.0041	0.0036	0	0.0002	0.0025	7.596e-05	0	0.0056	0.0001	0.0003	3.487e-05	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	6.803e-05	5.087e-05	2.405e-05	0	0	0.0023	0.0002	0	0.0238	0.0001	0.0005	0	0.583	0.05936	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	.	.	.	1.23	0.36872	T	-0.28	0.11547	N	0.113	0.10769	-1.0668	0.10131	T	0.032	0.13811	T	9	0.0077707767	0.00177	T	0.010476	0.27066	T	0.066	0.19193	.	.	0.119812018005	0.11559	.	.	0.0706562436126	0.07918	0.250583171844	0.03830	T	.	.	.	-0.358762	0.04200	T	-0.527412	0.19545	T	0.00681246974402369	0.00077	T	0.631037	0.28129	T	.	.	.	.	.	.	.	.	-1.64	0.02518	T	.	.	0.058	0.00670	B	.;.;.;.	.;.;.;.	0.402988	0.07739	4.423	0.6451002309517706	0.07513	0.03339	0.08418	N	AEFBI	0.124991	0.24131	N	-1.26632090298818	0.04088	0.1838568	-1.19982553831079	0.05914	0.2831301	0.00256020339293704	0.09527	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.9	-0.833	0.10237	0.338000	0.19599	.	.	-0.123000	0.13640	0.036000	0.20778	0.023000	0.20922	0.382000	0.26379	0.0:0.5554:0.0:0.4446	12.287	0.54114	369	0.84396	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1104.98	33	chr2	178709578	.	T	C	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.360e-01;DP=775;ExcessHet=0.0000;FS=0.784;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-5.470e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1119,0,1223	20	0	1	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	YES	10	265	679	568	0	1815	0.773987	.	.	54604	not_specified|Type_2_diabetes_mellitus|WFS1-Related_Spectrum_Disorders|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:CN239410|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6323	0.729433	0.6595	0.6736	0.7600	0.9441	0.5735	0.6010	0.6641	0.7013	0.648394	100243	154602	rs1801214	0.6232	0.6230	0.6215	0.6249	0.9621	0.6221	0.6216	0.9540	0.9506	0.6757	0.7449	0.6960	0.9621	0.5729	0.6281	0.5982	0.6483	0.6951	0.6443	0.6444	0.6428	0.6459	0.9402	0.6409	0.6395	0.9181	0.9091	0.6704	0.3904	0.7014	0.6817	0.9402	0.5669	0.6531	0.6019	0.6596	0.7030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.5952	70076.78	204	chr4	6301295	.	C	T	70076.78	.	AC=25;AF=0.595;AN=42;BaseQRankSum=2.07;DP=3793;ExcessHet=0.6491;FS=0.000;InbreedingCoeff=0.1106;MLEAC=25;MLEAF=0.595;MQ=60.00;MQRankSum=0.00;QD=21.54;ReadPosRankSum=0.392;SOR=0.690	GT:AD:DP:GQ:PL	1/1:0,221:221:99:7030,663,0	4	8	9	0
chr5	236472	236472	G	T	exonic	SDHA	.	synonymous SNV	SDHA:NM_001294332:exon9:c.G1161T:p.L387L	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	YES	0	1450	67	5	0	77	0.025865	.	.	226823	Paragangliomas_5|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Hereditary_pheochromocytoma-paraganglioma|Hereditary_cancer-predisposing_syndrome|not_specified|Leigh_syndrome|not_provided	MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0146	0.0151757	0.0193	0.0025	0.0080	0	0.0364	0.0235	0.0121	0.0242	0.0176582	2730	154602	rs35964044	0.0163	0.0163	0.0157	0.0169	0.0373	0.0162	0.0161	0.0332	0.0317	0.0030	0.0103	0.0466	5.039e-05	0.0369	0.0373	0.0149	0.0201	0.0253	0.0154	0.0154	0.0142	0.0167	0.0251	0.0149	0.0147	0.0214	0.0201	0.0026	0	0.0184	0.0467	0.0002	0.0369	0.0102	0.0182	0.0227	0.0251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	1	0.1429	8274.01	37	chr5	236472	.	G	T	8274.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.537e+00;DP=1046;ExcessHet=0.1217;FS=0.570;InbreedingCoeff=0.2222;MLEAC=6;MLEAF=0.143;MQ=59.42;MQRankSum=1.00;QD=18.14;ReadPosRankSum=-5.390e-01;SOR=0.786	GT:AD:DP:GQ:PL	0/1:58,72:130:99:1912,0,1553	16	1	4	0
chr6	32040110	32040110	G	T	exonic	CYP21A2	.	nonsynonymous SNV	CYP21A2:NM_001128590:exon6:c.G754T:p.V252L	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	YES	0	1479	43	0	0	43	0.0143286	.	.	27190	Congenital_adrenal_hyperplasia|Inborn_genetic_diseases|not_provided|CYP21A2-related_disorder|Adenoma,_cortisol-producing|Carcinoma,_adrenocortical,_androgen-secreting|Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency	Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.|MedGen:C3151153|MedGen:C1859998|MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	1	T	0.929	P	0.796	P	0.001	D	0.956	A	0.545	N	-0.03	T	-0.970	T	0.100	T	0.727	2.398	13.98	4.02	2.463	2.552	10.072	0.311	.	.	.	0.0104	0.0050	0.0251	0.0021	0.0015	0.0129	0.0172	0.0015	0.0002652	41	154602	rs6471	0.0044	0.0084	0.0045	0.0043	0.0149	0.0043	0.0043	0.0140	0.0136	0.0030	0.0149	0.0452	0.0006	0.0014	0.0096	0.0033	0.0093	0.0009	0.0109	0.0140	0.0120	0.0097	0.0276	0.0104	0.0102	0.0255	0.0246	0.0049	0	0.0276	0.0723	0.0021	0.0011	0.0174	0.0104	0.0242	0.0012	0.612	0.06030	T	0.411	0.14679	T	0.929	0.51690	P	0.679	0.53442	P	0.000507	0.43753	D	0.000000	0.955922	0.37949	A	.	.	.	-0.03	0.63077	T	-0.9	0.24244	N	0.882	0.88027	-0.9704	0.37115	T	0.100	0.37239	T	9	0.0096589625	0.00217	T	.	.	.	0.311	0.63269	0.857	0.95604	.	.	0.5972667856722742	0.59657	1.16223817457	0.79525	0.504117131233	0.39401	T	.	.	.	0.0639463	0.60105	T	-0.145922	0.59604	T	0.981746435165405	0.74087	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.62058	A	.;.;.;.	.;.;.;.	3.749744	0.53743	23.4	0.99112721896904177	0.52776	0.87789	0.47449	D	AEFGBHI	0.786009	0.71622	D	0.0540422138522301	0.44330	2.708939	0.100301907356287	0.44563	2.735777	0.293754153552603	0.19115	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.613276	0.41899	0	.	.	4.96	4.02	0.45968	2.599000	0.45895	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.193000	0.21690	0.0:0.0:0.7997:0.2003	10.072	0.41514	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	1487.68	52	chr6	32040110	.	G	T	1487.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.34;DP=1121;ExcessHet=0.3300;FS=27.143;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=50.75;MQRankSum=-3.602e+00;QD=3.94;ReadPosRankSum=-6.520e-01;SOR=1.798	GT:AD:DP:GQ:PL	0/1:90,20:110:99:341,0,2207	18	0	3	0
chr7	142750561	142750561	C	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.C47T:p.A16V,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	YES	0	788	734	0	0	734	0.317749	.	.	46925	Recurrent_pancreatitis|Hereditary_pancreatitis|not_provided	Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.002	B	0.019	N	0.986	N	0.825	L	-3.17	D	-0.577	T	0.542	D	0.671	0.269	5.455	0.989	0.076	0.750	7.043	0.524	.	.	.	0.0160	0.0479	0.0047	0.0021	0.0128	0.0164	0.0210	0.0113	0.0135833	2100	154602	rs202003805	0.2021	0.3260	0.1994	0.2049	0.3871	0.2013	0.2010	0.3798	0.3768	0.3871	0.3293	0.2961	0.1035	0.3682	0.1866	0.1904	0.2197	0.1188	0.3862	0.4088	0.3910	0.3812	0.4582	0.3832	0.3820	0.4521	0.4495	0.4582	0.3653	0.3885	0.3815	0.1497	0.3882	0.3266	0.3733	0.3802	0.2128	0.566	0.06502	T	0.351	0.19721	T	0.0	0.02946	B	0.002	0.06944	B	0.018559	0.27457	N	0.446479	0.985655	0.24690	N	0.625	0.15840	N	-3.17	0.93054	D	-0.01	0.07155	N	0.072	0.08366	-0.5774	0.65720	T	0.542	0.83122	D	10	0.0054525733	0.00120	T	.	.	.	0.524	0.79825	.	.	.	.	0.5690087331218414	0.56828	0.162344706958	0.18315	0.232086211443	0.02126	T	0.208591	0.56856	T	0.119743	0.66346	D	-0.0657736	0.65926	T	0.0260900631546974	0.01419	T	.	.	.	0.016501123	0.00202	0.035258744	0.02744	0.015689086	0.00152	0.033967946	0.02380	-4.735	0.33824	T	.	.	0.128	0.27373	B	.;.;.	.;.;.	0.257558	0.06365	2.827	0.30547631428140182	0.01676	0.01640	0.05278	N	AEFDBI	0.139100	0.26059	N	-1.28146295350348	0.03898	0.1749983	-1.30565312385982	0.04356	0.2053128	0.136983366606344	0.17200	0.549168	0.22868	0	0.627178	0.54094	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	3.49	0.989	0.18920	0.485000	0.22033	.	.	-1.601000	0.00893	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2125:0.0:0.7875	7.043	0.24210	776	0.48302	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.3571	22149.38	121	chr7	142750561	.	C	T	22149.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.697e+00;DP=2539;ExcessHet=17.4423;FS=2.788;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=56.74;MQRankSum=-9.685e+00;QD=9.67;ReadPosRankSum=-3.250e-01;SOR=0.501	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,73:211:99:.:.:2619,0,3775	6	0	15	0
chr8	89981417	89981417	G	A	exonic	NBN	.	nonsynonymous SNV	NBN:NM_002485:exon3:c.C278T:p.S93L	Aplastic anemia;Leukemia, acute lymphoblastic;Nijmegen breakage syndrome, Autosomal recessive	YES	5	1515	2	0	0	2	0.000659631	.	.	151941	Malignant_tumor_of_breast|Microcephaly,_normal_intelligence_and_immunodeficiency|Hereditary_cancer-predisposing_syndrome|not_provided|not_specified	MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260,Orphanet:647|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.944	P	0.461	P	0.026	N	0.878	D	1.545	L	0.18	T	0.443	D	0.612	D	0.217	3.693	18.76	5.71	2.682	5.441	19.844	0.457	0.0811154088027	0.0003	0.000798722	0.0007	0	0.0003	0	0	0.0002	0.0011	0.0044	0.0006015	93	154602	rs12721593	0.0004	0.0004	0.0002	0.0005	0.0045	0.0004	0.0004	0.0042	0.0040	5.975e-05	8.944e-05	0	0	9.362e-05	0	0.0001	0.0002	0.0045	0.0002	0.0002	0.0001	0.0002	0.0039	0.0001	9.244e-05	0.0026	0.0021	2.41e-05	0	0	0	0	0	0	5.883e-05	0	0.0039	0.004	0.65419	D	0.041	0.56192	D	0.944	0.53183	P	0.461	0.46460	P	0.026024	0.25988	N	0.469798	0.878238	0.35697	D	2.02	0.55341	M	-2.34	0.87989	D	-3.08	0.67941	D	0.234	0.27197	0.443	0.89732	D	0.612	0.86267	D	10	0.013203561	0.00281	T	0.081115	0.73610	D	0.457	0.75551	.	.	0.951362630218	0.95084	0.3475136658926152	0.34665	0.111525478306	0.12590	0.354317069054	0.18556	T	0.372479	0.73665	T	-0.293759	0.09262	T	-0.194749	0.55143	T	0.102795711967771	0.12662	T	0.913209	0.70302	D	0.29610965	0.52554	0.45432168	0.68270	0.26362443	0.49428	0.41867685	0.65884	-11.508	0.82372	D	.	.	0.122	0.25882	B	.;.;.;.;.	.;.;.;.;.	4.124567	0.61670	24.4	0.99882310107774175	0.95813	0.90895	0.52464	D	AEFDBCI	0.668672	0.63637	D	0.436439098388469	0.63439	4.577505	0.468873688622854	0.65937	4.887405	0.999999999999903	0.74766	0.75658	0.98901	0	0.672317	0.65289	0	0.658983	0.55881	0	0.656636	0.63459	0	.	.	5.71	5.71	0.89031	7.172000	0.77164	6.514000	0.55815	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.326000	0.25110	0.0:0.0:1.0:0.0	19.844	0.96699	896	0.25515	Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.04762	2059.08	33	chr8	89981417	.	G	A	2059.08	.	AC=2;AF=0.048;AN=42;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.28;SOR=1.352	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2087,204,0	20	1	0	0
chr8	143215486	143215486	G	C	exonic	GPIHBP1	.	nonsynonymous SNV	GPIHBP1:NM_178172:exon4:c.G523C:p.G175R,	Hyperlipoproteinemia, type 1D, Autosomal recessive	YES	402	1117	3	0	0	3	0.00134108	.	.	153747	Hyperlipoproteinemia,_type_1D|GPIHBP1-related_disorder|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0014412,MedGen:C4014767,OMIM:615947,Orphanet:444490,Orphanet:535458|.|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.993	D	0.831	P	0.868	N	1.000	N	0.695	N	-1.8	D	-0.539	T	0.345	T	0.314	2.100	12.98	-4.12	-1.291	-0.429	5.997	0.721	0.0667380994633	0.0021	0.00219649	0.0011	0.0073	0.0021	0	0	0.0005	0.0044	0	0.0008473	131	154602	rs145844329	0.0006	0.0006	0.0006	0.0006	0.0053	0.0006	0.0006	0.0047	0.0044	0.0053	0.0017	0.0005	0	0.0001	0.0020	0.0005	0.0014	5.814e-05	0.0020	0.0020	0.0020	0.0020	0.0055	0.0018	0.0017	0.0049	0.0047	0.0055	0	0.0012	0.0012	0	9.411e-05	0.0102	0.0005	0.0043	0	.	.	.	0.015	0.61642	D	.	.	.	.	.	.	0.867515	0.08849	N	0.924044	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.184	0.19995	-0.5388	0.67208	T	0.345	0.71004	T	10	0.01230523	0.00265	T	0.066738	0.69964	D	.	.	.	.	0.488757021912	0.48508	0.783717957866859	0.78322	.	.	0.358868032694	0.19220	T	.	.	.	-0.502283	0.00555	T	-0.492214	0.23159	T	0.0388956787987601	0.03491	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.63033	A	.	.	0.652615	0.10212	6.949	0.93599898295013573	0.23457	0.03907	0.09289	N	AEFDBI	0.105086	0.21008	N	-0.713715911269836	0.15635	0.7897153	-0.971493214629424	0.10429	0.5251846	0.107372829030956	0.16554	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.19	-4.12	0.03650	-1.759000	0.01906	.	.	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6117:0.1518:0.2366:0.0	5.997	0.18731	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1049.98	46	chr8	143215486	.	G	C	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=903;ExcessHet=0.0000;FS=1.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=0.491;SOR=0.569	GT:AD:DP:GQ:PL	0/1:38,41:79:99:1064,0,907	20	0	1	0
chr10	93663085	93663085	A	C	exonic	PDE6C	.	synonymous SNV	PDE6C:NM_006204:exon21:c.A2425C:p.R809R,	Cone dystrophy 4, Autosomal recessive	YES	1	1491	28	2	0	32	0.0106171	.	.	323330	not_provided|not_specified|Cone_dystrophy_4|Achromatopsia	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013129,MedGen:C2751308,OMIM:613093,Orphanet:49382|Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.00139776	0.0013	9.667e-05	0.0011	0	0.0002	0.0017	0.0011	0.0020	0.0012613	195	154602	rs1051926	0.0009	0.0009	0.0009	0.0010	0.0071	0.0009	0.0009	0.0054	0.0048	5.981e-05	0.0014	0.0031	2.523e-05	5.618e-05	0.0071	0.0008	0.0017	0.0018	0.0012	0.0012	0.0012	0.0011	0.0027	0.0010	0.0010	0.0016	0.0013	0.0001	0	0.0019	0.0032	0	0	0.0102	0.0016	0.0038	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	1	0.04762	2137.11	34	chr10	93663085	.	A	C	2137.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.677e+00;DP=832;ExcessHet=0.1072;FS=0.582;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=2.36;SOR=0.792	GT:AD:DP:GQ:PL	0/1:36,55:91:99:1329,0,875	19	0	2	0
chr11	5225678	5225678	C	G	exonic	HBB	.	nonsynonymous SNV	HBB:NM_000518:exon3:c.G364C:p.E122Q,	Delta-beta thalassemia, Autosomal dominant;Erythremias, beta- (3);Heinz body anemias, beta-, Autosomal dominant;Hereditary persistence of fetal hemoglobin, Autosomal dominant;Methemoglobinemias, beta- (3);Sickle cell anemia, Autosomal recessive;Thalassemia-beta, dominant inclusion-body;Thalassemias, beta-	YES	0	1497	24	1	0	26	0.00860927	.	.	30191	beta_Thalassemia|Hb_D-Los_Angeles|HBB-related_disorder|not_provided|Heinz_body_anemia|Hemoglobin_D_disease|Hb_SS_disease	MONDO:MONDO:0019402,MedGen:C0005283,Orphanet:848|.|MedGen:CN239378|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330|MONDO:MONDO:0019537,MedGen:C0272080,Orphanet:90039|MONDO:MONDO:0011382,MedGen:C0002895,OMIM:603903,Orphanet:232	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.01	D	0.174	B	0.007	B	.	.	1.000	N	2.69	M	-3.36	D	0.285	D	0.784	D	0.896	1.164	9.736	4.68	2.589	4.047	15.475	0.575	0.23278745787	0.0002	0.000599042	0.0007	0	0.0003	0	0	0.0001	0.0022	0.0043	0.000608	94	154602	rs33946267	0.0005	0.0005	0.0003	0.0006	0.0051	0.0004	0.0004	0.0047	0.0045	5.974e-05	0.0001	0	0	0	0.0019	0.0002	0.0004	0.0051	0.0002	0.0002	0.0001	0.0003	0.0044	0.0002	0.0001	0.0029	0.0025	7.22e-05	0	0	0	0	0	0	0.0001	0	0.0044	0.006	0.61437	D	0.109	0.37449	T	0.174	0.28827	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	3.045	0.86684	M	-3.36	0.94067	D	-1.73	0.41046	N	0.509	0.54059	0.285	0.87314	D	0.784	0.92663	D	9	0.017982274	0.00387	T	0.232787	0.88337	D	0.575	0.82799	.	.	0.993264840891	0.99319	0.7264923966125129	0.72593	0.0337626008877	0.03542	0.372132986784	0.21138	T	0.027149	0.19941	T	0.0928782	0.63512	D	0.36159	0.90762	D	0.0634609066813779	0.07702	T	0.866213	0.56644	D	0.3287237	0.55366	0.21583228	0.46188	0.36926448	0.58531	0.18763994	0.42007	-8.299	0.63089	D	0.3426908369855942	0.44034	0.204	0.42877	B	.;.	.;.	3.065211	0.41183	21.3	0.97588656222229542	0.34780	0.90271	0.51315	D	AEFDGBHCI	0.869951	0.79071	D	-0.0666117936946236	0.38864	2.282815	-0.0677246373714052	0.36733	2.141517	0.99999999999992	0.74766	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	4.68	4.68	0.58319	4.942000	0.63247	.	.	0.599000	0.40250	0.984000	0.35821	0.903000	0.28003	0.060000	0.15972	0.0:1.0:0.0:0.0	15.475	0.75199	862	0.33134	Globin;Globin	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	779.98	33	chr11	5225678	.	C	G	779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.200e-02;DP=778;ExcessHet=0.0000;FS=1.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-1.921e+00;SOR=0.923	GT:AD:DP:GQ:PL	0/1:45,34:79:99:794,0,1100	20	0	1	0
chr11	64808033	64808033	C	T	exonic	MEN1	.	nonsynonymous SNV	MEN1:NM_000244:exon3:c.G527A:p.R176Q	Adrenal adenoma, somatic (3);Angiofibroma, somatic (3);Carcinoid tumor of lung (3);Lipoma, somatic (3);Multiple endocrine neoplasia 1, Autosomal dominant;Parathyroid adenoma, somatic (3)	YES	1	1515	6	0	0	6	0.00197628	.	.	50293	Multiple_endocrine_neoplasia,_type_1|Multiple_endocrine_neoplasia|Hyperparathyroidism|Hereditary_cancer-predisposing_syndrome|not_provided|not_specified	MONDO:MONDO:0007540,MeSH:D018761,MedGen:C0025267,OMIM:131100,Orphanet:652|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161|Human_Phenotype_Ontology:HP:0000843,MONDO:MONDO:0001741,MedGen:C0020502|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.995	D	0.661	P	0.004	N	0.671	N	0.55	N	-5.85	D	0.578	D	0.880	D	0.298	3.156	16.56	4.8	2.386	2.656	11.621	0.434	.	0.0154	0.0061901	0.0120	0.0046	0.0073	0.0061	0.0078	0.0178	0.0080	0.0014	0.0126066	1949	154602	rs607969	0.0181	0.0181	0.0188	0.0174	0.0219	0.0179	0.0179	0.0217	0.0216	0.0033	0.0078	0.0047	0.0042	0.0061	0.0071	0.0219	0.0142	0.0016	0.0127	0.0127	0.0130	0.0124	0.0213	0.0122	0.0120	0.0204	0.0200	0.0044	0.0219	0.0088	0.0063	0.0050	0.0061	0.0238	0.0213	0.0118	0.0017	0.101	0.30375	T	0.146	0.34837	T	0.759	0.67487	P	0.086	0.52837	B	0.003767	0.34511	N	0.249881	0.671297	0.30362	N	0.69	0.16971	N	-5.85	0.99402	D	-0.75	0.23372	N	0.199	0.26596	0.578	0.91609	D	0.880	0.96025	D	10	0.014003247	0.00295	T	.	.	.	0.434	0.73951	.	.	.	.	0.7829810422706585	0.78249	1.23784296459	0.81518	0.709672212601	0.68546	T	0.612687	0.93708	D	-0.217433	0.18345	T	-0.0614194	0.66233	T	0.0171703605991532	0.00461	T	0.952805	0.83911	D	0.3374961	0.56079	0.12006877	0.28979	0.44017807	0.63414	0.12206842	0.29447	-4.39	0.31072	T	0.16597232949424232	0.20607	0.072	0.15698	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.755912	0.53860	23.4	0.99865116224191119	0.94366	0.74854	0.36629	D	AEFGBI	0.194722	0.32179	N	0.233023735599901	0.52806	3.452489	0.31252935489454	0.56273	3.790625	0.999984555125481	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.8	4.8	0.61157	2.734000	0.47041	7.633000	0.62825	0.530000	0.24713	0.995000	0.38783	1.000000	0.68203	0.987000	0.62547	0.0:0.82:0.18:0.0	11.621	0.50376	330	0.86467	.;.;.;.;.;.;.;.;.;.;.;.	VPS51|KCNK7	Heart_Left_Ventricle|Nerve_Tibial	TRPT1	Cells_Cultured_fibroblasts	rs607969	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	0.02381	2398.98	38	chr11	64808033	.	C	T	2398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.810e-01;DP=904;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=0.073;SOR=0.733	GT:AD:DP:GQ:PL	0/1:96,103:199:99:2413,0,2227	20	0	1	0
chr11	66560624	66560624	C	T	exonic	ACTN3	.	stopgain	ACTN3:NM_001104:exon15:c.C1729T:p.R577X	.	YES	431	348	516	227	0	970	0.582233	.	.	33351	Actn3_deficiency|Sprinting_performance|ACTININ,_ALPHA-3_POLYMORPHISM|INCREASED_COLD_TOLERANCE	MedGen:C3888204,OMIM:617749|MedGen:C2319308|.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|Affects	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011494	1777	154602	rs1815739	0.4457	0.4457	0.4429	0.4486	0.6506	0.4448	0.4445	0.6443	0.6418	0.1565	0.6506	0.4488	0.4864	0.3242	0.4631	0.4408	0.4423	0.5727	0.3751	0.3752	0.3731	0.3772	0.5830	0.3726	0.3715	0.5650	0.5577	0.1705	0.5662	0.5458	0.4550	0.4656	0.3104	0.4184	0.4422	0.4119	0.5830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.58543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	8.325406	0.97431	37	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.339000	0.33489	-0.261000	0.10426	0.599000	0.40250	0.997000	0.40164	0.094000	0.22579	0.852000	0.40310	.	.	.	59	0.97452	.;.	CTD-3074O7.5|BBS1|ACTN3|CTSF|ACTN3|DPP3|CTSF|ACTN3|CTSF|ACTN3|ACTN3|CTSF|C11orf80|LRFN4|ZDHHC24|CTSF|ZDHHC24|CTD-3074O7.2|PC|CTD-3074O7.2|CTSF|PC|BBS1|ZDHHC24|ZDHHC24|ZDHHC24|CTSF|ZDHHC24|CTSF|CTSF|CTD-3074O7.5|ACTN3|BBS1|ACTN3|CTSF|LRFN4|CLCF1|CCS|ACTN3|CTSF|ACTN3|CTSF|CCS|ACTN3|CTSF|RP11-867G23.8|CTD-3074O7.5|DPP3|BBS1|ACTN3|CTSF|ACTN3|CTSF|LRFN4|ACTN3|ACTN3|CTSF|CTD-3074O7.5|ACTN3|CTSF|CCS|ACTN3|RP11-867G23.8|BBS1|ACTN3|CTSF|CTD-3074O7.5|ZDHHC24|ACTN3|CTSF|C11orf80|DPP3|CTSF|CTSF|RP11-867G23.8|CTSF|BBS1|ACTN3|CTSF|LRFN4|RIN1|BBS1|ACTN3|CTSF|ACTN3|CCS|DPP3|ACTN3|CCS|CTD-3074O7.5|ACTN3|CTSF|RP11-867G23.8|CTD-3074O7.5|ACTN3|CTD-3074O7.2|RP11-755F10.1|RP11-867G23.8|PELI3|CTD-3074O7.5|DPP3|ZDHHC24|ACTN3|CTSF|LRFN4|ACTN3|RIN1|PELI3|CTD-3074O7.5|DPP3|BBS1|ACTN3|CTSF|CCS|RCE1|LRFN4	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood	SLC29A2|MRPL11|DPP3|MRPL11|MRPL11|BBS1|SLC29A2|SLC29A2|MRPL11|MRPL11|DPP3|MRPL11|DPP3|MRPL11|RP11-867G23.8|MRPL11|SLC29A2|SLC29A2|MRPL11|DPP3|SLC29A2|MRPL11|SLC29A2|MRPL11|CTD-3074O7.5|SLC29A2|MRPL11|MRPL11|MRPL11|RP11-867G23.8|SLC29A2|MRPL11|DPP3|RP11-867G23.8|SLC29A2|MRPL11|MRPL11|DPP3|DPP3|MRPL11|DPP3|ACTN3|SPTBN2|MRPL11|MRPL11	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Lung|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Testis|Whole_Blood|Whole_Blood	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0.3333	20480.46	40	chr11	66560624	.	C	T	20480.46	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.928;DP=1792;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2857;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=0.037;SOR=0.696	GT:AD:DP:GQ:PL	0/1:56,47:103:99:1159,0,1408	8	1	12	0
chr15	71812110	71812110	C	T	exonic	NR2E3	.	synonymous SNV	NR2E3:NM_014249:exon4:c.C505T:p.L169L	Enhanced S-cone syndrome, Autosomal recessive;Retinitis pigmentosa 37, Autosomal recessive, Autosomal dominant	YES	0	1517	5	0	0	5	0.00164528	.	.	255338	Retinitis_pigmentosa|Retinitis_Pigmentosa,_Recessive|not_specified|not_provided|Enhanced_S-cone_syndrome|Goldmann-Favre_syndrome	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN239466|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100288,MedGen:C1849394,OMIM:268100,Orphanet:53540|MONDO:MONDO:0100289,MedGen:C0339541,Orphanet:53540	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0092	0.0135783	0.0059	0.0608	0.0070	0	0	0.0001	0	0	0.0025873	400	154602	rs1805022	0.0013	0.0013	0.0015	0.0011	0.0480	0.0013	0.0013	0.0460	0.0452	0.0480	0.0029	0	0	0	0.0012	4.433e-05	0.0032	7.52e-05	0.0125	0.0125	0.0138	0.0111	0.0431	0.0120	0.0118	0.0415	0.0408	0.0431	0	0.0048	0	0	0	0.0034	0.0001	0.0109	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	1	0.02381	1660.98	35	chr15	71812110	.	C	T	1660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.234e+00;DP=873;ExcessHet=0.0000;FS=5.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.784;SOR=0.378	GT:AD:DP:GQ:PL	0/1:71,71:142:99:1675,0,1778	20	0	1	0
chr16	3254626	3254626	C	G	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon2:c.G442C:p.E148Q,	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	YES	2	1242	263	15	0	293	0.10551	.	.	17581	Familial_Mediterranean_fever|Familial_Mediterranean_fever,_autosomal_dominant|not_specified|not_provided|Autoinflammatory_syndrome|Acute_febrile_neutrophilic_dermatosis|Inborn_genetic_diseases|MEFV-related_disorder|See_cases	MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|MeSH:D030342,MedGen:C0950123|.|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.851	P	0.003	N	0.913	P	1.1	L	-1.07	T	-1.103	T	0.000	T	0.597	3.078	16.28	3.44	1.441	1.142	8.711	0.274	.	0.0112	0.126398	0.0900	0.0184	0.0217	0.3150	0.0013	0.0197	0.0716	0.3018	0.0641648	9920	154602	rs3743930	0.0377	0.0376	0.0305	0.0450	0.2802	0.0374	0.0373	0.2772	0.2760	0.0171	0.0133	0.0539	0.2546	0.0019	0.0650	0.0131	0.0511	0.2802	0.0329	0.0330	0.0280	0.0380	0.2988	0.0321	0.0318	0.2860	0.2808	0.0159	0	0.0191	0.0582	0.2795	0.0018	0.0714	0.0127	0.0317	0.2988	0.007	0.59928	D	0.011	0.64786	D	0.995	0.67487	D	0.851	0.60700	P	0.003372	0.35041	N	0.131490	1	0.27475	P	1.83	0.48079	L	-1.07	0.76948	T	-1.3	0.32590	N	0.125	0.11769	-1.1028	0.03768	T	0.000	0.00039	T	9	0.0055573583	0.00123	T	.	.	.	0.274	0.59007	.	.	.	.	0.514001947169189	0.51322	0.534422499708	0.50847	0.454673349857	0.32582	T	0.400125	0.75778	T	-0.397484	0.02405	T	-0.199914	0.54654	T	0.0123424584187742	0.00201	T	0.79572	0.43862	T	0.1393041	0.32184	0.087836124	0.20442	0.12762725	0.29860	0.088540226	0.20650	-4.015	0.24027	T	.	.	0.132	0.28607	B	.	.	2.968483	0.39555	21.0	0.99364470562835017	0.61155	0.13031	0.17624	N	AEFDBI	0.123919	0.23974	N	-0.142306821722336	0.35564	2.044299	-0.309833529502108	0.27781	1.543952	0.999995932073785	0.74766	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.39	3.44	0.38486	0.734000	0.25769	.	.	0.599000	0.40250	0.027000	0.20232	0.930000	0.28522	0.049000	0.15107	0.0:0.898:0.0:0.102	8.711	0.33543	779	0.47767	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	0	0	0	0	0.07143	2702.68	31	chr16	3254626	.	C	G	2702.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.73;DP=824;ExcessHet=0.3300;FS=0.607;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=16.58;ReadPosRankSum=1.44;SOR=0.796	GT:AD:DP:GQ:PL	0/1:26,35:61:99:962,0,571	18	0	3	0
chr16	30091839	30091839	C	A	intronic	TBX6	.	.	.	Spondylocostal dysostosis 5, Autosomal recessive, Autosomal dominant	YES	1246	176	28	72	0	172	0.328244	.	.	185945	not_specified|Spondylocostal_dysostosis_5	MedGen:CN169374|MONDO:MONDO:0007389,MedGen:C4083048,OMIM:122600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462061	.	.	.	.	.	.	.	.	0.423506	11023	26028	rs3809627	0.3478	0.0657	0.3200	0.3582	0.5000	0.2795	0.2547	0.2790	0.2465	0.2000	0	0.5000	0.5000	.	.	0.3725	0.3750	0.3276	0.4146	0.4149	0.4083	0.4212	0.5713	0.4119	0.4108	0.5541	0.5471	0.3471	0.3575	0.4821	0.4622	0.5713	0.4831	0.4388	0.4110	0.4262	0.4861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	313.36	3	chr16	30091839	.	C	A	313.36	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-1.150e+00;DP=36;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3131;MLEAC=8;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=24.10;ReadPosRankSum=0.319;SOR=0.593	GT:AD:DP:GQ:PL	1/1:0,5:5:15:124,15,0	9	2	1	9
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.938	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.095	12.96	5.06	2.751	6.097	18.302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2024.09	102	chr17	3648932	.	G	C	2024.09	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.410e+00;DP=2311;ExcessHet=20.9642;FS=326.408;InbreedingCoeff=-0.6490;MLEAC=17;MLEAF=0.425;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.04;SOR=11.378	GT:AD:DP:GQ:PL	0/1:57,37:109:99:148,0,782	4	0	16	1