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	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	26447586	26447586	C	T	exonic	DHDDS	.	synonymous SNV	DHDDS:NM_001243565:exon5:c.C351T:p.Y117Y,DHDDS:NM_001319959:exon6:c.C189T:p.Y63Y,DHDDS:NM_024887:exon6:c.C468T:p.Y156Y,DHDDS:NM_205861:exon6:c.C468T:p.Y156Y	Retinitis pigmentosa 59, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	281991	Retinitis_pigmentosa|Retinitis_pigmentosa_59	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0013468,MedGen:C3151227,OMIM:613861,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.407	.	.	.	8.241e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs768075911	1.779e-05	1.779e-05	1.497e-05	2.063e-05	6.956e-05	1.237e-05	1.051e-05	2.995e-05	2.038e-05	0	0	0	0	0	0	1.709e-05	1.656e-05	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	1097.53	34	chr1	26447586	.	C	T	1097.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=272;ExcessHet=0;FS=2.594;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-2.561;SOR=0.974	GT:AD:DP:GQ:PL	0/1:56,45:101:99:1108,0,1303	6	0	1	0
chr1	37708312	37708314	TTC	-	intronic	CDCA8	.	.	.	.	430	656	353	83	0	519	0.283452	.	.	.	1310279	Neutrophil_inclusion_bodies|CDCA8-related_condition|not_specified	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2158	0.364217	0.2783	0.2577	0.4416	0.7111	0.2264	0.1916	0.2695	0.3211	0.0001537	4	26028	rs145033890	0.2126	0.2132	0.2108	0.2144	0.6712	0.2120	0.2117	0.6645	0.6617	0.2510	0.4088	0.2738	0.6712	0.2205	0.2368	0.1761	0.2370	0.3125	0.2412	0.2420	0.2349	0.2479	0.6862	0.2391	0.2383	0.6673	0.6596	0.2534	0.1154	0.3139	0.2784	0.6862	0.2248	0.2021	0.1800	0.2481	0.3272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	9928.09	113	chr1	37708311	.	TTTC	T	9928.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.62;DP=623;ExcessHet=2.5225;FS=0.525;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=0.321;SOR=0.625	GT:AD:DP:GQ:PL	0/1:94,84:178:99:3230,0,3618	3	0	4	0
chr1	42746620	42746620	G	A	UTR3	P3H1	NM_001243246:c.*292C>T;NM_022356:c.*77C>T;NM_001146289:c.*213C>T	.	.	Osteogenesis imperfecta, type VIII, Autosomal recessive	4	1360	148	10	0	168	0.0581717	.	.	.	864417	not_provided|Osteogenesis_Imperfecta,_Recessive|Osteogenesis_imperfecta_type_8	MedGen:C3661900|MedGen:CN239451|MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0551118	.	.	.	.	.	.	.	.	0.0076778	1187	154602	rs13871	0.0436	0.0414	0.0433	0.0438	0.1156	0.0432	0.0431	0.1122	0.1107	0.1156	0.0412	0.0608	0.0006	0.0280	0.0708	0.0423	0.0477	0.0545	0.0588	0.0589	0.0597	0.0578	0.1060	0.0577	0.0573	0.1034	0.1023	0.1060	0.0844	0.0468	0.0605	0.0012	0.0308	0.0646	0.0408	0.0678	0.0558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	195.15	19	chr1	42746620	.	G	A	195.15	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.914;DP=99;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.124;SOR=0.693	GT:AD:DP:GQ:PL	0/1:7,7:14:99:204,0,176	4	0	1	2
chr1	42757818	42757818	C	T	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon5:c.G1045A:p.G349R,P3H1:NM_001243246:exon5:c.G1045A:p.G349R,P3H1:NM_022356:exon5:c.G1045A:p.G349R	Osteogenesis imperfecta, type VIII, Autosomal recessive	0	1359	156	7	0	170	0.0588643	.	.	.	365182	not_specified|Osteogenesis_imperfecta_type_8|Osteogenesis_Imperfecta,_Recessive	MedGen:CN169374|MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.551	.	0.0655	0.0549121	0.0448	0.1086	0.0364	0.0016	0.0281	0.0410	0.0419	0.0555	0.0444626	6874	154602	rs6700677	0.0430	0.0430	0.0427	0.0433	0.1150	0.0427	0.0426	0.1120	0.1107	0.1150	0.0399	0.0612	0.0007	0.0277	0.0758	0.0414	0.0471	0.0547	0.0586	0.0587	0.0595	0.0577	0.1058	0.0576	0.0572	0.1032	0.1022	0.1058	0.0846	0.0467	0.0605	0.0012	0.0310	0.0646	0.0407	0.0681	0.0557	0.002	0.72154	D	0.006	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.235	0.89610	M	-1.66	0.82715	D	-4.54	0.81030	D	0.469	0.50508	-0.5361	0.67311	T	0.067	0.27640	T	10	0.0021423697	0.00031	T	.	.	.	0.551	0.81427	0.309	0.28128	.	.	0.6843972499464513	0.68378	0.800589739096	0.66227	0.689329564571	0.65610	T	0.482556	0.81065	T	-0.221005	0.17857	T	-0.00338102	0.70117	D	0.0414313809427587	0.03951	T	0.870113	0.57479	D	0.57059675	0.71093	0.4587038	0.68551	0.6272012	0.74149	0.48363465	0.70106	-11.724	0.83687	D	0.7061372760979174	0.78576	0.255	0.67264	B	.;.;.	.;.;.	4.831024	0.78774	27.0	0.99938680313730954	0.99698	0.99073	0.90830	D	AEFDGBI	0.951807	0.96671	D	0.841087739919886	0.88593	9.637593	0.781041610301148	0.88444	9.584876	0.999999999999953	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	7.568000	0.81546	4.888000	0.45735	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	17.643	0.88045	507	0.75469	.;.;.	RP5-994D16.3|P3H1|CLDN19	Brain_Cerebellum|Cells_Cultured_fibroblasts|Nerve_Tibial	.	.	rs6700677	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.077543	0.136364	0.072011	0.105263	0.050000	0.068966	0.027439	0.060606	0.07143	1208.44	34	chr1	42757818	.	C	T	1208.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.161;DP=296;ExcessHet=0;FS=2.463;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.009;SOR=0.595	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1219,0,1455	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	55038977	55038977	G	A	upstream	PCSK9	dist=571	.	.	Hypercholesterolemia, familial, 3	1383	64	4	71	0	146	0.532847	.	.	.	434132	Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1	MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.601438	.	.	.	.	.	.	.	.	0.614454	15993	26028	rs2479409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6550	0.6548	0.6555	0.6544	0.7401	0.6515	0.6501	0.7332	0.7303	0.7401	0.7462	0.4896	0.6250	0.3408	0.7158	0.5850	0.6504	0.6293	0.7341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	125.24	1	chr1	55038977	.	G	A	125.24	.	AC=4;AF=0.5;AN=8;DP=9;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.5;MQ=60;QD=25.05;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	2	0	3
chr1	55039978	55039978	C	T	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon1:c.C141T:p.S47S	Hypercholesterolemia, familial, 3	0	1447	73	2	0	77	0.0259172	.	.	YES	249983	Cardiovascular_phenotype|not_specified|Hypobetalipoproteinemia|Hypercholesterolemia,_familial,_1|Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia|not_provided	MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0068	0.00399361	0.0207	0.0041	0.0429	0	0.0519	0.0263	0.028	0.0153	0.0080206	1240	154602	rs28385701	0.0093	0.0093	0.0091	0.0095	0.0323	0.0091	0.0091	0.0282	0.0266	0.0016	0.0102	0.0212	5.281e-05	0.0120	0.0323	0.0090	0.0104	0.0127	0.0083	0.0083	0.0079	0.0088	0.0134	0.0080	0.0078	0.0108	0.0100	0.0016	0.0022	0.0120	0.0210	0.0004	0.0129	0.0374	0.0102	0.0175	0.0134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.031504	0.047368	0.036685	0.043860	0.050000	0.017241	0.018634	0.019084	0.2857	3477.12	37	chr1	55039978	.	C	T	3477.12	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.19;DP=409;ExcessHet=2.5225;FS=0.883;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.132;SOR=0.627	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1113,0,983	3	0	4	0
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q	Hypercholesterolemia, familial, 3	1	0	1	1520	0	3041	1	.	.	.	249989	Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|not_provided|not_specified|Cardiovascular_phenotype|Hypobetalipoproteinemia	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0.994965	0.974747	0.994565	0.997076	1.000000	1.000000	0.996951	1.000000	1.0	22671.0	91	chr1	55057360	.	A	G	22671.0	.	AC=14;AF=1;AN=14;BaseQRankSum=2.03;DP=759;ExcessHet=0;FS=0;MLEAC=14;MLEAF=1;MQ=60;MQRankSum=0;QD=30.6;ReadPosRankSum=-0.989;SOR=0.243	GT:AD:DP:GQ:PL	1/1:0,167:167:99:5145,501,0	0	7	0	0
chr1	89054647	89054652	AAAAAC	-	intronic	GBP1	.	.	.	.	630	387	266	239	0	744	0.490119	.	.	.	1310281	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.4335	0.384984	0.4653	0.2752	0.3198	0.3797	0.6032	0.5117	0.4919	0.4927	0.0001921	5	26028	rs66614512	0.5009	0.4988	0.4991	0.5027	0.5162	0.4999	0.4995	0.5150	0.5146	0.2892	0.3353	0.4420	0.3415	0.6034	0.4709	0.5162	0.4810	0.5115	0.4382	0.4403	0.4351	0.4415	0.5215	0.4354	0.4343	0.5169	0.5151	0.2908	0.4658	0.3465	0.4346	0.3728	0.6123	0.5069	0.5215	0.4378	0.5102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	4958.07	18	chr1	89054646	.	GAAAAAC	G	4958.07	.	AC=8;AF=0.571;AN=14;BaseQRankSum=0.021;DP=212;ExcessHet=1.4958;FS=1.154;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=24.3;ReadPosRankSum=0.977;SOR=0.816	GT:AD:DP:GQ:PL	0/1:29,14:43:99:501,0,1103	1	2	4	0
chr1	92478758	92478759	AG	-	intronic	GFI1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	281295	Severe_congenital_neutropenia|not_specified|not_provided|Neutropenia,_severe_congenital,_2,_autosomal_dominant	MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1379	0.1555	0.0847	0.0539	0.1853	0.1664	0.1449	0.0666	0.0003074	8	26028	rs768494519	0.1170	0.1190	0.1192	0.1149	0.1278	0.1166	0.1164	0.1272	0.1270	0.1100	0.0644	0.1056	0.0255	0.1368	0.1015	0.1278	0.1084	0.0439	0.1234	0.1186	0.1244	0.1224	0.1384	0.1219	0.1212	0.1360	0.1350	0.1139	0.1836	0.1008	0.1275	0.0302	0.1642	0.1213	0.1384	0.1332	0.0423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2867.81	10	chr1	92478757	.	CAG	C	2867.81	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.551;DP=209;ExcessHet=0;FS=2.983;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=34.14;ReadPosRankSum=-0.674;SOR=2.049	GT:AD:DP:GQ:PL	1/0:0,11:16:99:461,165,165	5	0	1	1
chr1	158668076	158668076	A	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277732	Pyropoikilocytosis,_hereditary|not_provided|Spherocytosis,_Recessive|Elliptocytosis	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.295927	0.2594	0.3676	0.2026	0.2423	0.2213	0.2473	0.2422	0.3088	0.0001153	3	26028	rs5778087	0.2240	0.2318	0.2228	0.2252	0.3653	0.2233	0.2230	0.3595	0.3571	0.3653	0.1704	0.2138	0.2344	0.1747	0.2460	0.2196	0.2324	0.2731	0.2818	0.2831	0.2829	0.2807	0.4731	0.2795	0.2785	0.4673	0.4649	0.4731	0.0657	0.1879	0.2095	0.2214	0.1760	0.2259	0.2103	0.2655	0.2866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2827.55	24	chr1	158668075	.	GA	G	2827.55	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.331;DP=284;ExcessHet=0.4813;FS=2.929;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=0.299;SOR=0.995	GT:AD:DP:GQ:PL	0/1:25,5:30:20:20,0,492	2	0	5	0
chr1	161214269	161214269	-	TGTGTG	UTR3	NDUFS2	NM_001377298:c.*76_*77insTGTGTG;NM_001377300:c.*328_*329insTGTGTG;NM_001377301:c.*328_*329insTGTGTG;NM_004550:c.*76_*77insTGTGTG;NM_001166159:c.*328_*329insTGTGTG;NM_001377299:c.*76_*77insTGTGTG;NM_001377302:c.*119_*120insTGTGTG	.	.	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	277891	not_provided|Mitochondrial_complex_I_deficiency	MedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs10629771	0.1103	0.1169	0.1075	0.1129	0.1917	0.1097	0.1094	0.1877	0.1860	0.0491	0.1896	0.1549	0.1917	0.0897	0.1237	0.0977	0.1182	0.1378	0.1349	0.1345	0.1345	0.1353	0.2373	0.1333	0.1326	0.2260	0.2214	0.0698	0.1581	0.2006	0.1998	0.2373	0.1092	0.1747	0.1498	0.1315	0.1588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1357.38	19	chr1	161214269	.	C	CTGTGTG	1357.38	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.115;DP=225;ExcessHet=4.7409;FS=1.375;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.401;SOR=1.15	GT:AD:DP:GQ:PL	0/1:11,11:25:99:339,0,458	6	0	1	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0901	0.0583	0.0571	0.1111	0.0285	0.0764	0.1111	0.1608	0.0101813	265	26028	rs746838916	0.1940	0.2229	0.1966	0.1915	0.3563	0.1933	0.1931	0.3505	0.3481	0.0679	0.2628	0.2257	0.3563	0.2032	0.2132	0.1918	0.2017	0.1427	0.3472	0.3539	0.3502	0.3440	0.6153	0.3444	0.3432	0.5953	0.5872	0.1764	0.4207	0.4130	0.4226	0.6153	0.3414	0.3519	0.3888	0.3596	0.3282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	2264.25	31	chr1	168293284	.	A	AGT	2264.25	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.304;DP=429;ExcessHet=1.4958;FS=25.24;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.55;SOR=2.143	GT:AD:DP:GQ:PL	0/1:17,17:36:99:354,0,396	3	0	4	0
chr1	169529737	169529737	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.A5290G:p.M1764V	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	683	630	208	0	1046	0.433665	.	.	.	249501	Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|not_specified|not_provided	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	.	0.2894	0.308706	0.3351	0.1905	0.5327	0.2606	0.2965	0.3211	0.3469	0.3980	0.331005	51174	154602	rs6030	0.3320	0.3320	0.3303	0.3337	0.5036	0.3312	0.3309	0.4981	0.4958	0.1908	0.5036	0.2433	0.2974	0.2961	0.3432	0.3294	0.3217	0.4015	0.2994	0.2996	0.2954	0.3036	0.4414	0.2971	0.2962	0.4325	0.4289	0.1962	0.1919	0.4414	0.2414	0.2702	0.2903	0.3129	0.3306	0.3275	0.4006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.799742	0.09333	N	0.908379	1	0.08975	P	-1.195	0.00846	N	-5.02	0.98562	D	0.77	0.01949	N	0.006	0.00044	-0.4336	0.70946	T	0.433	0.77400	T	9	0.00013938546	0.00010	T	.	.	.	0.230	0.53062	.	.	.	.	0.5774194888175482	0.57670	0.0874476088007	0.09862	0.202470511198	0.00532	T	0.012008	0.10625	T	-0.558879	0.00258	T	-0.431747	0.29737	T	0.00389668243981471	0.00041	T	0.0319468	0.00204	T	0.10963965	0.25921	0.15528889	0.36408	0.11500659	0.27143	0.10465255	0.25139	-1.936	0.02949	T	0.0630923633968402	0.01915	0.051	0.00195	B	.;.	.;.	-1.215408	0.00515	0.012	0.69920481567361925	0.09127	0.03239	0.08258	N	AEFGBCIJ	0.145810	0.26911	N	-1.46881193792389	0.02073	0.09117123	-1.39284912778787	0.03328	0.1549985	0.999997398089242	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.172119	0.04147	3	0.564101	0.26826	0	.	.	5.32	-2.86	0.05376	-2.274000	0.01245	-8.462000	0.00965	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0923:0.1961:0.2724:0.4392	3.252	0.06416	772	0.48957	.;.	ATP1B1	Testis	.	.	rs6030	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.324270	0.373737	0.269022	0.406433	0.250000	0.370690	0.277439	0.352273	0.7143	9095.72	82	chr1	169529737	.	T	C	9095.72	.	AC=10;AF=0.714;AN=14;BaseQRankSum=0.301;DP=577;ExcessHet=2.5225;FS=0;MLEAC=10;MLEAF=0.714;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=0.548;SOR=0.669	GT:AD:DP:GQ:PL	0/1:54,51:105:99:1143,0,1208	0	3	4	0
chr1	169542517	169542517	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.A2573G:p.K858R	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	794	580	148	0	876	0.355519	.	.	.	249509	Thrombophilia_due_to_activated_protein_C_resistance|not_provided|Congenital_factor_V_deficiency|not_specified	MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:C3661900|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.009	.	0.2436	0.266773	0.2768	0.1782	0.4435	0.2189	0.2153	0.2598	0.2797	0.3462	0.26695	41271	154602	rs4524	0.2731	0.2732	0.2716	0.2747	0.4087	0.2724	0.2721	0.4038	0.4017	0.1804	0.4087	0.1760	0.2265	0.2171	0.2765	0.2718	0.2651	0.3467	0.2462	0.2463	0.2443	0.2481	0.3449	0.2441	0.2432	0.3341	0.3309	0.1831	0.1908	0.3418	0.1685	0.2342	0.2115	0.2381	0.2667	0.2614	0.3449	0.855	0.02705	T	0.847	0.03538	T	0.0	0.02946	B	0.0	0.01387	B	0.635169	0.10649	N	0.830320	1	0.08975	P	-1.355	0.00654	N	2.17	0.19020	T	0.21	0.04776	N	0.026	0.00527	-0.9096	0.46904	T	0.005	0.01615	T	9	0.00049877167	0.00011	T	.	.	.	0.009	0.00846	.	.	.	.	0.1337133431932104	0.13295	0.07127904727	0.07981	0.188595145941	0.00201	T	0.013326	0.11547	T	-0.869542	0.00001	T	-0.877993	0.00671	T	0.000714397847103574	0.00006	T	0.386661	0.09517	T	0.022049049	0.00842	0.030590214	0.01535	0.01725972	0.00258	0.02791734	0.00982	-3.171	0.12129	T	0.05318867320884815	0.01062	0.073	0.04477	B	.;.	.;.	-0.558016	0.01690	0.122	0.12338566367754079	0.00211	0.00494	0.02336	N	AEFBI	0.057701	0.10769	N	-1.69916646532579	0.00845	0.03654265	-1.64287359967973	0.01413	0.06388659	1.28884559717462E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.34	-1.7	0.07721	-0.613000	0.05705	-0.884000	0.07053	-1.357000	0.01185	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3402:0.1552:0.5046	5.162	0.14392	773	0.48803	.;.	.	.	.	.	rs4524	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.262336	0.303030	0.211957	0.318713	0.150000	0.275862	0.225610	0.295455	0.5	11702.1	131	chr1	169542517	.	T	C	11702.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.74;DP=1021;ExcessHet=3.6764;FS=1.097;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.369;SOR=0.609	GT:AD:DP:GQ:PL	0/1:91,122:213:99:3040,0,2128	1	1	5	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	467	200	364	491	0	1346	0.770905	1.0000	0.918	YES	249563	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified	MedGen:C3661900|MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	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	Benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.8333	7426.47	40	chr1	179889309	.	G	A	7426.47	.	AC=10;AF=0.833;AN=12;BaseQRankSum=0.594;DP=331;ExcessHet=0.4139;FS=1.128;MLEAC=11;MLEAF=0.917;MQ=60;MQRankSum=0;QD=22.85;ReadPosRankSum=1.24;SOR=0.798	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1654,171,0	0	4	2	1
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	207	250	453	612	0	1677	0.770326	.	.	YES	278205	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.631923	0.681818	0.582880	0.669591	0.500000	0.620690	0.606707	0.696970	0.6429	12773.1	34	chr1	196690107	.	C	T	12773.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=0;DP=576;ExcessHet=0.4813;FS=0.727;MLEAC=9;MLEAF=0.643;MQ=59.98;MQRankSum=0;QD=24.15;ReadPosRankSum=0.71;SOR=0.558	GT:AD:DP:GQ:PL	1/1:0,126:126:99:3934,378,0	1	3	3	0
chr1	196743447	196743447	T	C	intronic	CFH	.	.	.	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	2	810	709	1	0	711	0.305019	0	0.028	.	865078	Age_related_macular_degeneration_4|Basal_laminar_drusen|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_specified|Atypical_hemolytic-uremic_syndrome|not_provided	MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN169374|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2585	0.2335	0.3236	0.3530	0.2551	0.2478	0.2636	0.2241	0.0001035	16	154602	rs513699	0.0899	0.2501	0.0919	0.0878	0.1935	0.0893	0.0891	0.1884	0.1864	0.0730	0.1344	0.0955	0.1935	0.1086	0.0549	0.0875	0.0860	0.0598	0.0293	0.1436	0.0285	0.0300	0.0485	0.0284	0.0280	0.0448	0.0434	0.0296	0.0038	0.0485	0.0263	0.0478	0.0280	0.0084	0.0251	0.0321	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	6043.21	34	chr1	196743447	.	T	C	6043.21	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.976;DP=765;ExcessHet=2.5225;FS=8.96;MLEAC=4;MLEAF=0.286;MQ=56.8;MQRankSum=-13.55;QD=9.41;ReadPosRankSum=-3.057;SOR=1.459	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,44:196:99:0|1:196743447_T_C:1383,0,6123:196743447	3	0	4	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q	.	440	2	22	1058	0	2138	0.998133	.	.	YES	1704217	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	16397.3	67	chr1	226735804	.	G	T	16397.3	.	AC=12;AF=1;AN=12;DP=535;ExcessHet=0;FS=0;MLEAC=13;MLEAF=1;MQ=60;QD=31.35;SOR=0.818	GT:AD:DP:GQ:PL	1/1:0,94:94:99:3010,282,0	0	6	0	1
chr1	235380161	235380161	-	TG	intronic	TBCE	.	.	.	Encephalopathy, progressive, with amyotrophy and optic atrophy, Autosomal recessive;Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive;Kenny-Caffey syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	279615	Hypoparathyroidism-retardation-dysmorphism_syndrome|not_provided	MONDO:MONDO:0009426,MedGen:C1855840,OMIM:241410,Orphanet:2323|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226923578	0.0045	0.0075	0.0043	0.0046	0.0052	0.0043	0.0043	0.0046	0.0044	0.0014	0.0052	0.0041	0.0034	0.0051	0.0042	0.0045	0.0052	0.0048	0.0191	0.0201	0.0202	0.0180	0.0276	0.0185	0.0183	0.0265	0.0261	0.0068	0.0068	0.0229	0.0118	0.0139	0.0162	0.0108	0.0276	0.0184	0.0113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3058.85	11	chr1	235380161	.	T	TTG	3058.85	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.359;DP=280;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=32.2;ReadPosRankSum=0.145;SOR=1.007	GT:AD:DP:GQ:PL	1/0:1,5:24:99:823,710,719	5	0	2	0
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	not_provided|Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG	MedGen:C3661900|MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1128.82	37	chr1	236897645	.	CT	C	1128.82	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.348;DP=396;ExcessHet=8.2628;FS=5.329;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=4.99;ReadPosRankSum=-0.341;SOR=0.449	GT:AD:DP:GQ:PL	0/1:42,13:58:99:139,0,964	1	0	6	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	241500602	241500602	-	GAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281822	Hereditary_cancer-predisposing_syndrome|Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197364	5137	26028	rs144131869	0.2390	0.2461	0.2382	0.2398	0.2745	0.2383	0.2380	0.2714	0.2702	0.1455	0.2328	0.2278	0.1589	0.2024	0.2171	0.2445	0.2281	0.2745	0.2551	0.2521	0.2543	0.2559	0.3681	0.2528	0.2519	0.3526	0.3463	0.1524	0.2864	0.3169	0.2763	0.1697	0.2757	0.2852	0.2931	0.2723	0.3681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	2796.86	17	chr1	241500602	.	T	TGAGA	2796.86	.	AC=5;AF=0.625;AN=8;BaseQRankSum=-0.614;DP=195;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.75;MQ=60;MQRankSum=0;QD=22.81;ReadPosRankSum=1.59;SOR=1.375	GT:AD:DP:GQ:PL	1/1:0,16:16:48:705,48,0	0	1	3	3
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	21016655	21016655	C	T	intronic	APOB	.	.	.	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1515	7	0	0	7	0.00230491	0.0004	0.012	.	250530	not_specified|Hypercholesterolemia,_familial,_1|Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1|not_provided	MedGen:CN169374|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0009	0.000798722	0.0009	0.0003	0.0003	0	0.0002	0.0011	0.0011	0.0012	0.0008667	134	154602	rs72653071	0.0012	0.0012	0.0011	0.0012	0.0016	0.0011	0.0011	0.0014	0.0013	0.0002	0.0005	0	0.0002	5.619e-05	0.0011	0.0013	0.0013	0.0016	0.0007	0.0007	0.0006	0.0007	0.0019	0.0005	0.0005	0.0010	0.0008	0.0002	0	0.0005	0	0.0002	0	0	0.0011	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1255.83	34	chr2	21016655	.	C	T	1255.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.22;DP=248;ExcessHet=0;FS=0.931;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.337;SOR=0.881	GT:AD:DP:GQ:PL	0/1:29,47:76:99:1266,0,571	6	0	1	0
chr2	21022941	21022941	G	A	exonic	APOB	.	synonymous SNV	APOB:NM_000384:exon18:c.C2706T:p.N902N	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1449	71	2	0	75	0.025227	.	.	.	250531	Cardiovascular_phenotype|Familial_hypercholesterolemia|not_specified|Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|Hypercholesterolemia,_familial,_1	MedGen:CN230736|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0356	0.0161741	0.0344	0.0089	0.0163	0.0001	0.0625	0.0454	0.0485	0.0249	0.0350578	5420	154602	rs1801700	0.0465	0.0465	0.0470	0.0461	0.0527	0.0462	0.0461	0.0523	0.0522	0.0075	0.0193	0.0272	0.0001	0.0593	0.0215	0.0527	0.0364	0.0250	0.0354	0.0354	0.0349	0.0358	0.0525	0.0346	0.0343	0.0511	0.0505	0.0080	0.1132	0.0263	0.0245	0.0002	0.0681	0.0034	0.0525	0.0260	0.0232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.022659	0.015152	0.014946	0.017544	0.000000	0.034483	0.039634	0.030303	0.07143	1394.44	34	chr2	21022941	.	G	A	1394.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.494;DP=307;ExcessHet=0;FS=0.662;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.532;SOR=0.579	GT:AD:DP:GQ:PL	0/1:64,62:126:99:1405,0,1497	6	0	1	0
chr2	48713934	48713934	A	-	intronic	LHCGR;STON1-GTF2A1L	.	.	.	.	8	920	487	107	0	701	0.275876	.	.	.	45133	Gonadotropin-independent_familial_sexual_precocity|not_provided	MONDO:MONDO:0008303,MedGen:C0342549,OMIM:176410,Orphanet:3000|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1143	0.148762	.	.	.	.	.	.	.	.	0.0035252	545	154602	rs111834744	0.1024	0.0983	0.0993	0.1052	0.2237	0.1019	0.1017	0.2130	0.2087	0.1692	0.1756	0.1510	0.1562	0.1144	0.2237	0.0811	0.1200	0.1942	0.1216	0.1219	0.1175	0.1258	0.1888	0.1201	0.1195	0.1786	0.1745	0.1664	0.0209	0.1489	0.1473	0.1324	0.1139	0.2313	0.0830	0.1300	0.1888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1305.45	34	chr2	48713933	.	CA	C	1305.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.283;DP=236;ExcessHet=0;FS=0.907;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=-0.841;SOR=0.892	GT:AD:DP:GQ:PL	0/1:34,38:72:99:1316,0,1156	6	0	1	0
chr2	69326244	69326244	A	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	290634	Congenital_myasthenic_syndrome_12|not_provided|not_specified|Congenital_Myasthenic_Syndrome,_Recessive	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900|MedGen:CN169374|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.5003	0.5725	0.4843	0.3357	0.5331	0.5252	0.4928	0.4503	0.0001537	4	26028	rs201330278	0.4721	0.4795	0.4728	0.4714	0.5446	0.4710	0.4706	0.5371	0.5340	0.5446	0.4487	0.5008	0.2970	0.4755	0.5037	0.4796	0.4730	0.4329	0.6332	0.6282	0.6394	0.6266	0.7813	0.6298	0.6283	0.7741	0.7711	0.7813	0.6810	0.5747	0.6455	0.3023	0.5629	0.6418	0.5950	0.6144	0.5344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1190.02	20	chr2	69326243	.	GA	G	1190.02	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.56;DP=207;ExcessHet=4.7409;FS=0.59;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.211;SOR=0.62	GT:AD:DP:GQ:PL	0/1:15,17:34:99:371,0,295	2	0	5	0
chr2	71570627	71570627	G	A	exonic	DYSF	.	synonymous SNV	DYSF:NM_001130976:exon28:c.G3018A:p.P1006P,DYSF:NM_001130977:exon28:c.G3018A:p.P1006P,DYSF:NM_001130984:exon28:c.G3021A:p.P1007P,DYSF:NM_001130986:exon28:c.G3021A:p.P1007P,DYSF:NM_001130455:exon29:c.G3063A:p.P1021P,DYSF:NM_001130978:exon29:c.G3060A:p.P1020P,DYSF:NM_001130980:exon29:c.G3111A:p.P1037P,DYSF:NM_001130981:exon29:c.G3111A:p.P1037P,DYSF:NM_001130983:exon29:c.G3063A:p.P1021P,DYSF:NM_001130985:exon29:c.G3114A:p.P1038P,DYSF:NM_001130987:exon29:c.G3114A:p.P1038P,DYSF:NM_003494:exon29:c.G3060A:p.P1020P,DYSF:NM_001130979:exon30:c.G3153A:p.P1051P,DYSF:NM_001130982:exon30:c.G3156A:p.P1052P	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	100199	Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_myopathy|Qualitative_or_quantitative_defects_of_dysferlin|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B	MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0002	0	0	0	0	3.072e-05	0	0.0013	0.0001876	29	154602	rs398123778	0.0002	0.0002	0.0001	0.0002	0.0017	0.0002	0.0002	0.0015	0.0014	0.0002	2.237e-05	0	2.519e-05	0	0.0002	8.903e-05	9.937e-05	0.0017	0.0001	0.0001	7.708e-05	0.0002	0.0025	7.572e-05	6.277e-05	0.0014	0.0011	4.813e-05	0	0	0	0	0	0	5.88e-05	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000505	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1328.45	38	chr2	71570627	.	G	A	1328.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.583;DP=309;ExcessHet=0;FS=0.689;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-1.102;SOR=0.773	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1339,0,1303	6	0	1	0
chr2	113062899	113062899	T	C	UTR3	IL36RN	NM_173170:c.*222T>C;NM_012275:c.*222T>C	.	.	Psoriasis 14, pustular, Autosomal recessive	910	207	66	339	0	744	0.642487	.	.	.	283604	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.108433	16764	154602	rs2515401	0.6460	0.6350	0.6359	0.6549	0.7967	0.6440	0.6431	0.7899	0.7872	0.7121	0.6981	0.6741	0.7292	0.6065	0.7411	0.6034	0.6506	0.7967	0.6525	0.6525	0.6494	0.6557	0.8018	0.6490	0.6476	0.7807	0.7721	0.7072	0.7566	0.6635	0.6876	0.7070	0.6292	0.7381	0.6008	0.6886	0.8018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	224.6	2	chr2	113062899	.	T	C	224.6	.	AC=4;AF=0.5;AN=8;BaseQRankSum=1.28;DP=15;ExcessHet=0.3892;FS=3.09;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=20.42;ReadPosRankSum=0;SOR=2.584	GT:AD:DP:GQ:PL	0/1:1,2:3:32:75,0,32	1	1	2	3
chr2	113133033	113133033	C	T	UTR3	IL1RN	NM_000577:c.*162C>T;NM_001318914:c.*162C>T;NM_173843:c.*162C>T;NM_173841:c.*162C>T;NM_001379360:c.*162C>T;NM_173842:c.*162C>T	.	.	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	103	1312	92	15	0	122	0.0444283	.	.	.	283664	Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis|Autoinflammatory_syndrome|not_provided	MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.01877	.	.	.	.	.	.	.	.	0.0056209	869	154602	rs4252041	0.0351	0.0448	0.0341	0.0359	0.0658	0.0346	0.0345	0.0575	0.0543	0.0081	0.0224	0.0245	0	0.0193	0.0658	0.0430	0.0364	0.0361	0.0269	0.0269	0.0284	0.0252	0.0413	0.0262	0.0259	0.0400	0.0395	0.0076	0.0011	0.0337	0.0253	0.0006	0.0115	0.0850	0.0413	0.0303	0.0304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	218.97	3	chr2	113133033	.	C	T	218.97	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.732;DP=27;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=24.33;ReadPosRankSum=1.38;SOR=0.368	GT:AD:DP:GQ:PL	0/1:2,7:9:56:227,0,56	4	0	1	2
chr2	151546001	151546001	-	A	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282777	not_specified|Nemaline_myopathy_2|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2521	0.1709	0.2716	0.2475	0.2950	0.2447	0.2589	0.2849	0.0001921	5	26028	rs762865768	0.2760	0.2628	0.2762	0.2759	0.3185	0.2751	0.2747	0.3132	0.3111	0.2337	0.3066	0.2747	0.3185	0.2903	0.2933	0.2740	0.2796	0.2642	0.2606	0.2606	0.2567	0.2647	0.3671	0.2583	0.2574	0.3587	0.3552	0.1876	0.2989	0.3671	0.2638	0.3220	0.2881	0.2862	0.2731	0.2600	0.2294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	992.86	25	chr2	151546001	.	T	TA	992.86	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.411;DP=224;ExcessHet=3.1439;FS=2.519;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=0.757;SOR=0.968	GT:AD:DP:GQ:PL	0/1:21,5:30:16:22,0,412	3	0	3	1
chr2	169294718	169294720	AAA	-	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	283582	not_provided|not_specified|Donnai-Barrow_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0909	0.0720	0.0505	0.0735	0.1765	0.0822	0.1111	0.1048	0.0002305	6	26028	rs759076090	0.1851	0.1738	0.1848	0.1854	0.2132	0.1842	0.1839	0.2089	0.2071	0.1690	0.1813	0.1909	0.2132	0.1973	0.1874	0.1829	0.1955	0.1769	0.0022	0.0046	0.0019	0.0024	0.0064	0.0019	0.0018	0.0042	0.0035	0.0012	0	0.0010	0.0060	0.0022	0.0020	0.0046	0.0024	0.0029	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2395.03	10	chr2	169294717	.	TAAA	T	2395.03	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.908;DP=297;ExcessHet=0;FS=2.234;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=28.51;ReadPosRankSum=0.447;SOR=0.586	GT:AD:DP:GQ:PL	1/0:0,5:10:60:297,62,60	0	0	6	1
chr2	169294718	169294718	A	-	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282759	Donnai-Barrow_syndrome|not_provided	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.0121	0.0063	0.0120	0.0029	0.0051	0.0111	0.0077	0.0003074	8	26028	rs766367371	0.0646	0.0951	0.0648	0.0645	0.1291	0.0641	0.0639	0.1251	0.1234	0.1202	0.1291	0.0617	0.0743	0.0575	0.0533	0.0598	0.0754	0.0551	0.3357	0.3394	0.3363	0.3350	0.4615	0.3327	0.3315	0.4502	0.4456	0.4489	0.3239	0.4615	0.2703	0.3170	0.2210	0.2936	0.2726	0.3467	0.2235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2395.03	10	chr2	169294717	.	TA	T	2395.03	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.908;DP=297;ExcessHet=0;FS=2.234;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=28.51;ReadPosRankSum=0.447;SOR=0.586	GT:AD:DP:GQ:PL	0/1:0,3:10:60:297,191,162	5	0	1	1
chr2	171448665	171448665	-	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	295	1061	129	35	2	201	0.0857389	.	.	.	1153880	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1900	0.1440	0.2965	0.1542	0.1838	0.1738	0.1942	0.2313	0.0121408	316	26028	rs139655160	0.1523	0.1653	0.1512	0.1534	0.2241	0.1517	0.1515	0.2196	0.2178	0.1225	0.2241	0.1819	0.1751	0.1501	0.1619	0.1464	0.1560	0.1975	0.1961	0.1983	0.1956	0.1968	0.2795	0.1943	0.1935	0.2670	0.2620	0.1627	0.1681	0.2502	0.2551	0.1836	0.2003	0.2363	0.1955	0.2145	0.2795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	276.26	16	chr2	171448665	.	C	CT	276.26	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.33;DP=137;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-1.132;SOR=0.461	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,9:30:99:0|1:171448665_C_CT:286,0,855:171448665	5	0	1	1
chr2	171448667	171448667	C	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	305	1005	21	3	188	215	0.0132548	.	.	.	189063	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.207069	0.2822	0.2104	0.4319	0.2364	0.2448	0.2580	0.2773	0.3437	0.0139778	2161	154602	rs192861143	0.2297	0.1974	0.2282	0.2312	0.3467	0.2289	0.2286	0.3409	0.3385	0.1856	0.3467	0.2716	0.2622	0.2223	0.2208	0.2204	0.2344	0.2999	0.2054	0.2045	0.2034	0.2075	0.2886	0.2034	0.2026	0.2757	0.2706	0.1695	0.1726	0.2733	0.2593	0.1987	0.2244	0.2396	0.2008	0.2248	0.2886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	276.28	17	chr2	171448667	.	C	T	276.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.24;DP=142;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-1.019;SOR=0.461	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,9:30:99:0|1:171448665_C_CT:286,0,855:171448665	5	0	1	1
chr2	171458135	171458135	T	-	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	50	730	457	105	180	847	0.313587	.	.	.	1258517	not_provided|Woodhouse-Sakati_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.227835	.	.	.	.	.	.	.	.	0.0401491	1045	26028	rs58636477	0.2283	0.2354	0.2253	0.2312	0.3807	0.2275	0.2272	0.3754	0.3733	0.2227	0.3807	0.2915	0.2775	0.2308	0.2404	0.2103	0.2387	0.3067	0.2115	0.2106	0.2096	0.2136	0.2856	0.2096	0.2088	0.2729	0.2678	0.1932	0.1718	0.2748	0.2573	0.1950	0.2276	0.2413	0.1998	0.2246	0.2856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1720.45	31	chr2	171458134	.	AT	A	1720.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.022;DP=235;ExcessHet=0.4813;FS=3.696;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.049;SOR=0.419	GT:AD:DP:GQ:PL	1/0:0,14:31:99:752,447,553	6	0	1	0
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	not_provided|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Limb-girdle_muscular_dystrophy,_recessive|Hypertrophic_cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239352|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	225.53	48	chr2	178535858	.	GA	G	225.53	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.055;DP=549;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=1.33;SOR=0.677	GT:AD:DP:GQ:PL	0/1:67,19:92:99:184,0,1467	5	0	2	0
chr2	178698917	178698917	A	-	intronic	TTN	.	.	.	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	602	811	65	11	33	120	0.050907	.	.	.	284061	Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Hypertrophic_cardiomyopathy|not_specified	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3475	0.2323	0.3611	0.3926	0.3437	0.3114	0.3652	0.4068	0.0002587	40	154602	rs368277751	0.2822	0.2893	0.2800	0.2846	0.3367	0.2814	0.2810	0.3308	0.3284	0.3185	0.3091	0.3275	0.3367	0.3028	0.2767	0.2747	0.2980	0.3072	0.0042	0.0065	0.0033	0.0052	0.0055	0.0038	0.0037	0.0042	0.0038	0.0019	0	0.0055	0.0081	0.0039	0.0128	0	0.0043	0.0037	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	139.43	6	chr2	178698916	.	TA	T	139.43	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.674;DP=62;ExcessHet=1.383;FS=1.824;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=6.06;ReadPosRankSum=0.98;SOR=0.26	GT:AD:DP:GQ:PL	0/1:2,2:4:38:40,0,38	4	0	2	1
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	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	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5822.12	57	chr2	233681881	.	T	G	5822.12	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.572;DP=501;ExcessHet=3.6764;FS=4.316;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.211;SOR=0.989	GT:AD:DP:GQ:PL	0/1:59,51:110:99:1200,0,1510	1	1	5	0
chr3	10289773	10289773	G	T	exonic	GHRL	.	nonsynonymous SNV	GHRL:NM_001134944:exon2:c.C178A:p.L60M,GHRL:NM_001134945:exon2:c.C175A:p.L59M,GHRL:NM_001302825:exon3:c.C214A:p.L72M,GHRL:NM_001134941:exon4:c.C211A:p.L71M,GHRL:NM_001302822:exon4:c.C214A:p.L72M,GHRL:NM_001302823:exon4:c.C211A:p.L71M,GHRL:NM_001302824:exon4:c.C214A:p.L72M,GHRL:NM_016362:exon4:c.C214A:p.L72M,GHRL:NM_001302821:exon5:c.C214A:p.L72M	.	376	1002	128	16	0	160	0.0739372	.	.	.	20101	not_provided|Inherited_obesity|Metabolic_syndrome,_susceptibility_to|Obesity,_age_at_onset_of|Obesity	MedGen:C3661900|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|MedGen:C2676079|MedGen:C4016925|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	.	0.0588	0.0832668	0.0856	0.0200	0.0399	0.1930	0.1250	0.0847	0.1134	0.0889	0.0837505	12948	154602	rs696217	0.0829	0.0833	0.0823	0.0834	0.1932	0.0825	0.0823	0.1896	0.1881	0.0185	0.0506	0.1274	0.1932	0.1238	0.0611	0.0785	0.0865	0.0892	0.0727	0.0730	0.0696	0.0759	0.1951	0.0716	0.0711	0.1850	0.1810	0.0217	0.0352	0.0728	0.1269	0.1951	0.1366	0.0816	0.0810	0.0705	0.0913	0.112	0.51853	T	0.191	0.59732	T	1.0	0.90584	D	0.999	0.92359	D	0.067916	0.21708	N	0.330746	0.982043	0.58761	P	2.36	0.67893	M	1.38	0.60734	T	-0.42	0.26843	N	0.377	0.43706	-1.0407	0.17101	T	0.001	0.00255	T	9	0.0015681088	0.00018	T	.	.	.	0.124	0.34239	.	.	.	.	0.1238158666168449	0.12307	0.0539738033869	0.05963	0.447462975979	0.31598	T	0.192568	0.54777	T	-0.475863	0.00782	T	-0.3125	0.43390	T	0.024983608988191	0.01270	T	0.712529	0.42343	T	0.102517754	0.24226	0.08301495	0.18992	0.102517754	0.24226	0.08301495	0.18992	-4.801	0.36808	T	0.27672248696563045	0.37134	0.160	0.36012	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.498192	0.48928	22.7	0.99158779589247237	0.54043	0.74171	0.36280	D	AEFDBCI	0.170422	0.29733	N	0.386817246144049	0.60708	4.262665	0.260991158776893	0.53276	3.497412	0.998737675853913	0.37559	0.533608	0.22052	0	0.573116	0.20632	0	0.536957	0.11973	0	0.638833	0.57524	0	.	.	4.34	3.44	0.38486	2.297000	0.43254	5.210000	0.47963	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.486000	0.28701	0.1118:0.0:0.8882:0.0	8.378	0.31614	715	0.56137	Motilin/ghrelin-associated peptide;.;.;.;.;.;Motilin/ghrelin-associated peptide;Motilin/ghrelin-associated peptide	LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Esophagus_Muscularis|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood	IRAK2|IRAK2|GHRL	Adipose_Subcutaneous|Small_Intestine_Terminal_Ileum|Whole_Blood	rs696217	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.076032	0.095960	0.061141	0.064327	0.050000	0.077586	0.094512	0.064394	0.3333	4340.73	70	chr3	10289773	.	G	T	4340.73	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.012;DP=440;ExcessHet=3.1439;FS=1.24;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.186;SOR=0.618	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1441,0,1444	2	0	4	1
chr3	15521729	15521729	-	TG	upstream	COLQ	dist=23	.	.	Myasthenic syndrome, congenital, 5, Autosomal recessive	67	130	17	12	0	41	0.136213	.	.	.	293472	Congenital_Myasthenic_Syndrome,_Recessive|not_provided	MedGen:CN239337|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1179837883	0.1825	0.2084	0.1812	0.1838	0.3061	0.1819	0.1816	0.3005	0.2982	0.3061	0.2555	0.1878	0.2355	0.1166	0.2281	0.1758	0.1937	0.1911	0.2696	0.2733	0.2717	0.2674	0.3754	0.2674	0.2665	0.3703	0.3683	0.3754	0.1670	0.3074	0.2298	0.2766	0.1317	0.2705	0.2249	0.2744	0.2276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	437.28	17	chr3	15521729	.	T	TTG	437.28	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.628;DP=143;ExcessHet=1.383;FS=1.382;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.269;SOR=0.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,4:11:99:.:.:110,0,216:.	3	0	3	1
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA,EOMES:NM_005442:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	335	305	451	409	22	1291	0.675359	.	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1153.74	8	chr3	27721936	.	G	GCGGCGC	1153.74	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.967;DP=73;ExcessHet=0.7136;FS=2.731;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=24.55;ReadPosRankSum=-1.864;SOR=0.302	GT:AD:DP:GQ:PL	0/1:7,7:14:99:232,0,273	2	1	3	1
chr3	43081420	43081420	C	T	exonic	POMGNT2	.	synonymous SNV	POMGNT2:NM_032806:exon2:c.G12A:p.S4S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	428188	not_specified|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_8|not_provided|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0013904,MedGen:C3553813,OMIM:614830,Orphanet:899|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.8e-05	0.000399361	0.0002	0	0	0.0003	0	0.0001	0	0.0015	0.0001552	24	154602	rs368531523	0.0001	0.0001	8.925e-05	0.0001	0.0007	9.367e-05	8.859e-05	0.0005	0.0005	9.296e-05	0	0	0.0002	2.038e-05	0.0002	7.781e-05	6.839e-05	0.0007	7.879e-05	7.873e-05	0.0001	5.371e-05	0.0008	4.493e-05	3.51e-05	0.0003	0.0002	4.81e-05	0	0	0	0	0	0	8.82e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001009	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	626.27	30	chr3	43081420	.	C	T	626.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.178;DP=206;ExcessHet=0;FS=3.751;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.773;SOR=1.259	GT:AD:DP:GQ:PL	0/1:30,26:56:99:636,0,724	5	0	1	1
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	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	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	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	132681259	132681260	TT	-	ncRNA_intronic	NPHP3-ACAD11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	292584	Renal-hepatic-pancreatic_dysplasia_1|Nephronophthisis|not_provided|Meckel-Gruber_syndrome	MONDO:MONDO:0008833,MedGen:C3715199,OMIM:208540|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:C3661900|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs886058000	0.0270	0.0019	0	0.0370	0.0152	0.0048	0.0020	.	.	0	0	.	.	0	.	0.0152	0.5000	.	0.0889	0.0952	0.0883	0.0897	0.1232	0.0874	0.0868	0.1123	0.1081	0.0267	0.0519	0.1116	0.1475	0.1232	0.0995	0.1180	0.1097	0.1070	0.1210	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	54.09	.	chr3	132681258	.	CTT	C	54.09	.	AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=27.05;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:60,6,0	0	1	0	6
chr3	150926898	150926898	C	T	UTR3	CLRN1	NM_001195794:c.*1038G>A;NM_001256819:c.*1351G>A;NM_174878:c.*1038G>A	.	.	Retinitis pigmentosa 61;Usher syndrome, type 3A, Autosomal recessive	0	1493	27	2	0	31	0.0102751	.	.	.	293371	Usher_syndrome_type_3A|not_provided|Usher_syndrome_type_3	MONDO:MONDO:0010170,MedGen:C5779850,OMIM:276902|MedGen:C3661900|MONDO:MONDO:0016485,MedGen:C1568248,Orphanet:231183	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.00139776	0.0013	9.703e-05	0.0005	0	0	0.0003	0.0067	0.0077	0.001119	173	154602	rs201534956	0.0006	0.0006	0.0004	0.0008	0.0066	0.0006	0.0006	0.0061	0.0059	8.961e-05	0.0007	0.0005	2.519e-05	0	0.0042	0.0002	0.0011	0.0066	0.0004	0.0004	0.0003	0.0005	0.0058	0.0003	0.0003	0.0041	0.0036	7.234e-05	0	0.0006	0.0003	0	0	0.0102	0.0002	0.0009	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	606.49	31	chr3	150926898	.	C	T	606.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.468;DP=206;ExcessHet=0;FS=2.661;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.616;SOR=1.22	GT:AD:DP:GQ:PL	0/1:19,25:44:99:617,0,448	6	0	1	0
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	895.68	20	chr3	160258644	.	G	GA	895.68	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.805;DP=185;ExcessHet=3.1439;FS=1.858;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.477;SOR=0.468	GT:AD:DP:GQ:PL	0/1:6,15:21:99:348,0,107	2	0	4	1
chr3	187226525	187226525	G	C	intronic	MASP1	.	.	.	3MC syndrome 1, Autosomal recessive	2	1487	33	0	0	33	0.0109744	0	0	.	614259	not_provided|3MC_syndrome_1	MedGen:C3661900|MONDO:MONDO:0009770,MedGen:C0796059,OMIM:257920,Orphanet:2506,Orphanet:293843	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0025	0.00179712	0.0036	0.0008	0.0032	0	0.0007	0.0043	0.0037	0.0055	0.0024191	374	154602	rs138989954	0.0035	0.0035	0.0034	0.0036	0.0050	0.0034	0.0033	0.0042	0.0040	0.0003	0.0013	0.0032	2.552e-05	0.0006	0.0050	0.0038	0.0030	0.0045	0.0019	0.0019	0.0021	0.0017	0.0039	0.0017	0.0017	0.0029	0.0028	0.0005	0	0.0007	0.0032	0	0.0002	0.0034	0.0033	0.0014	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1255.49	34	chr3	187226525	.	G	C	1255.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.542;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.891;SOR=0.762	GT:AD:DP:GQ:PL	0/1:36,53:89:99:1266,0,888	6	0	1	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	10	265	679	568	0	1815	0.773987	.	.	YES	54604	WFS1-Related_Spectrum_Disorders|not_specified|Type_2_diabetes_mellitus|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_6	MedGen:CN239410|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:C3661900|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635	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	0	1	0.658107	0.641414	0.689373	0.599415	0.700000	0.629310	0.643293	0.696970	0.5714	16282.1	97	chr4	6301295	.	C	T	16282.1	.	AC=8;AF=0.571;AN=14;BaseQRankSum=2.24;DP=805;ExcessHet=0.0509;FS=0.603;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=21.77;ReadPosRankSum=0.236;SOR=0.79	GT:AD:DP:GQ:PL	0/1:100,91:191:99:2385,0,2500	2	3	2	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	432	231	483	376	0	1235	0.727755	.	.	.	1276892	not_provided|Hereditary_attention_deficit-hyperactivity_disorder	MedGen:C3661900|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.6667	10690.6	79	chr4	9783510	.	T	C	10690.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.86;DP=547;ExcessHet=3.1439;FS=0;MLEAC=9;MLEAF=0.75;MQ=59.98;MQRankSum=0;QD=20.1;ReadPosRankSum=-0.412;SOR=0.721	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3141,300,0	0	2	4	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	38797027	38797027	C	A	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.G1805T:p.S602I	.	433	95	396	598	0	1592	0.893378	.	.	.	23399	Leprosy,_susceptibility_to,_1|Leprosy,_protection_against|TLR1-related_disorder	MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548|MedGen:C2750734|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	0.056	.	0.4786	0.800519	0.5389	0.8744	0.7912	0.9899	0.1358	0.3358	0.5330	0.8978	0.490919	75897	154602	rs5743618	0.3478	0.3478	0.3322	0.3635	0.9891	0.3470	0.3467	0.9809	0.9775	0.8882	0.7620	0.5248	0.9891	0.1455	0.7954	0.2484	0.4321	0.8925	0.5230	0.5233	0.5155	0.5310	0.9882	0.5200	0.5187	0.9656	0.9564	0.8680	0.3374	0.6795	0.5378	0.9882	0.1309	0.7857	0.2742	0.5970	0.9061	1.0	0.00964	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.223979	0.03474	N	1.586730	1	0.08975	P	-2.455	0.00064	N	4.65	0.01779	T	2.33	0.00281	N	0.015	0.00203	-0.9814	0.34678	T	0.000	0.00011	T	9	1.5470836e-06	0.00003	T	.	.	.	0.056	0.15993	.	.	.	.	0.194904177424025	0.19408	0.0725892304128	0.08138	0.27531477809	0.06848	T	0.049442	0.28307	T	-0.808969	0.00007	T	-0.790984	0.02138	T	0.00365530579536446	0.00039	T	0.0535946	0.00383	T	0.052709427	0.09870	0.056038916	0.09939	0.052709427	0.09870	0.056038916	0.09939	1.962	0.00053	T	.	.	0.056	0.00496	B	.;.	.;.	0.550795	0.09195	5.976	0.10915785735844558	0.00150	0.04174	0.09671	N	AEFGBCI	0.072195	0.14400	N	-1.36048708973054	0.03017	0.134138	-1.14431403439413	0.06871	0.3322031	0.970372123348399	0.29203	0.631515	0.41029	0	0.697927	0.68747	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.43	2.76	0.31527	0.245000	0.17917	0.357000	0.17536	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4839:0.3908:0.0:0.1253	8.482	0.32208	653	0.62661	.;.	FAM114A1|FAM114A1|TLR6|TLR10|TLR1|TLR6|TLR1|TLR1|FAM114A1|TLR1|TLR1|FAM114A1|TLR6|TLR6|FAM114A1|TLR1|FAM114A1|FAM114A1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood	TLR1|TLR1|TLR10|TLR1|TLR1|TLR1|TLR1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Spleen|Whole_Blood	chr4:38798648	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.802115	0.868687	0.845109	0.918129	0.550000	0.758621	0.542683	0.757576	0.8333	24131.1	115	chr4	38797027	.	C	A	24131.1	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-0.925;DP=977;ExcessHet=0.4139;FS=0;MLEAC=11;MLEAF=0.917;MQ=53.59;MQRankSum=-8.314;QD=25.27;ReadPosRankSum=0.571;SOR=0.728	GT:AD:DP:GQ:PL	1/1:0,201:201:99:6665,604,0	0	4	2	1
chr4	153703504	153703504	T	C	exonic	TLR2	.	synonymous SNV	TLR2:NM_001318789:exon3:c.T597C:p.N199N,TLR2:NM_001318790:exon3:c.T597C:p.N199N,TLR2:NM_001318791:exon3:c.T597C:p.N199N,TLR2:NM_001318793:exon3:c.T597C:p.N199N,TLR2:NM_001318795:exon3:c.T597C:p.N199N,TLR2:NM_001318796:exon3:c.T597C:p.N199N,TLR2:NM_003264:exon3:c.T597C:p.N199N,TLR2:NM_001318787:exon4:c.T597C:p.N199N	.	433	374	514	201	0	916	0.550481	.	.	.	3197327	TLR2-related_disorder|COVID-19–associated_multisystem_inflammatory_syndrome_in_adults	.|MONDO:MONDO:0100319,MedGen:CN305503	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4947	0.414736	0.4113	0.6113	0.3166	0.2941	0.3755	0.4353	0.3833	0.3322	0.410745	63502	154602	rs3804099	0.4315	0.4315	0.4342	0.4288	0.6172	0.4306	0.4302	0.6102	0.6073	0.6172	0.3330	0.4315	0.3037	0.3765	0.4539	0.4448	0.4302	0.3318	0.4694	0.4697	0.4773	0.4612	0.6193	0.4665	0.4653	0.6129	0.6103	0.6193	0.3282	0.3800	0.4441	0.2870	0.3791	0.4592	0.4393	0.4748	0.3266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0.447130	0.444444	0.479620	0.485380	0.650000	0.500000	0.384146	0.409091	0.6667	10586.5	85	chr4	153703504	.	T	C	10586.5	.	AC=8;AF=0.667;AN=12;DP=467;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.75;MQ=60;QD=28.69;SOR=0.754	GT:AD:DP:GQ:PL	1/1:0,107:107:99:3071,321,0	2	4	0	1
chr4	154586438	154586438	T	C	exonic	FGA	.	nonsynonymous SNV	FGA:NM_000508:exon5:c.A991G:p.T331A,FGA:NM_021871:exon5:c.A991G:p.T331A	Afibrinogenemia, congenital, Autosomal recessive;Amyloidosis, familial visceral, Autosomal dominant;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia, congenital	28	792	564	118	20	820	0.33557	.	.	.	31459	not_specified|Venous_thromboembolism,_susceptibility_to|Congenital_afibrinogenemia|Familial_visceral_amyloidosis,_Ostertag_type|not_provided	MedGen:CN169374|MedGen:C1858965|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880|MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.092	.	0.2899	0.327077	0.2872	0.3752	0.2388	0.4541	0.3066	0.2510	0.2841	0.3173	0.279718	43245	154602	rs6050	0.2660	0.2660	0.2650	0.2670	0.4674	0.2653	0.2650	0.4618	0.4595	0.3629	0.2417	0.1859	0.4674	0.3153	0.2183	0.2525	0.2547	0.3265	0.2938	0.2939	0.2929	0.2947	0.4451	0.2915	0.2906	0.4299	0.4237	0.3634	0.2572	0.2478	0.1818	0.4451	0.3124	0.2041	0.2543	0.2578	0.3042	0.471	0.11406	T	0.831	0.08052	T	0.025	0.19245	B	0.008	0.13708	B	0.019120	0.01504	N	3.217810	1	0.08975	P	0.12	0.08593	N	-0.53	0.70833	T	-1.1	0.28497	N	0.017	0.00527	-1.0206	0.23519	T	0.000	0.00011	T	9	0.0003001392	0.00010	T	.	.	.	0.092	0.26621	.	.	.	.	0.18455593357657205	0.18373	0.0582763209917	0.06453	0.271667361259	0.06360	T	0.196286	0.55263	T	-0.68717	0.00043	T	-0.616028	0.11501	T	0.00908341073136414	0.00114	T	0.483152	0.14651	T	0.021154398	0.00703	0.027020706	0.00826	0.024007758	0.01191	0.03657319	0.03131	-5.133	0.38253	T	.	.	0.070	0.03625	B	.;.	.;.	-1.623381	0.00229	0.003	0.5951060700015256	0.06241	0.00697	0.02968	N	AEFBHCI	0.231798	0.35497	N	-1.69680907988312	0.00853	0.03690796	-1.74153389084326	0.00965	0.04324642	0.999998855499622	0.74766	0.594549	0.33734	0	0.573888	0.26702	0	0.573888	0.23631	0	0.836244	0.99985	0	.	.	4.95	-6.65	0.01630	-7.952000	0.00035	-20.000000	0.00162	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4201:0.2848:0.1048:0.1903	1.170	0.01712	798	0.45050	.;.	TLR2|DCHS2|PLRG1|FGG	Artery_Tibial|Brain_Cortex|Esophagus_Mucosa|Lung	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.252266	0.207071	0.221467	0.277778	0.250000	0.250000	0.253049	0.310606	0.4286	10214.4	35	chr4	154586438	.	T	C	10214.4	.	AC=6;AF=0.429;AN=14;BaseQRankSum=3.56;DP=592;ExcessHet=0.0509;FS=0.593;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=0.195;SOR=0.637	GT:AD:DP:GQ:PL	0/1:82,101:183:99:2786,0,1971	3	2	2	0
chr5	13886136	13886138	AAA	-	intronic	DNAH5	.	.	.	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	.	295553	Primary_ciliary_dyskinesia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1980	0.1530	0.2345	0.0616	0.3012	0.2362	0.2935	0.0933	0.0001229	19	154602	rs201639682	0.2197	0.2090	0.2202	0.2191	0.2636	0.2189	0.2187	0.2584	0.2562	0.1733	0.2636	0.2290	0.0664	0.2132	0.2468	0.2261	0.2174	0.2025	0.2129	0.2043	0.2115	0.2145	0.2821	0.2108	0.2099	0.2742	0.2710	0.1491	0.2864	0.2821	0.2820	0.0620	0.2497	0.2924	0.2356	0.2207	0.2146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2135.94	8	chr5	13886135	.	CAAA	C	2135.94	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.526;DP=164;ExcessHet=0.7136;FS=1.337;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=30.08;ReadPosRankSum=0.992;SOR=1.099	GT:AD:DP:GQ:PL	0/1:2,6:13:10:255,0,84	3	0	3	1
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	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	58990910	58990910	-	A	intronic	PDE4D	.	.	.	Acrodysostosis 2, with or without hormone resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	304675	Acrodysostosis|not_provided	MONDO:MONDO:0019797,MedGen:C0220659,OMIM:PS101800,Orphanet:950|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0823	0.0910	0.0692	0.0160	0.068	0.0833	0.0775	0.0945	0.0001921	5	26028	rs1472076496	0.1087	0.1217	0.1089	0.1085	0.1147	0.1081	0.1079	0.1140	0.1137	0.1136	0.0992	0.0929	0.0329	0.0781	0.0852	0.1147	0.1085	0.1066	0.0918	0.0904	0.0922	0.0913	0.1015	0.0904	0.0899	0.0994	0.0985	0.0941	0.0494	0.0938	0.0764	0.0028	0.0682	0.0778	0.1015	0.0865	0.0847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	648.27	20	chr5	58990910	.	G	GA	648.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.198;DP=195;ExcessHet=6.1542;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.4;ReadPosRankSum=-0.537;SOR=0.671	GT:AD:DP:GQ:PL	0/1:5,14:23:12:298,0,104	4	0	2	1
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	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	126593308	126593308	-	ACACACAC	intronic	ALDH7A1	.	.	.	Epilepsy, pyridoxine-dependent, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1020034	not_provided|Pyridoxine-dependent_epilepsy	MedGen:C3661900|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033426	87	26028	rs146736809	0.0498	0.0613	0.0490	0.0505	0.0684	0.0495	0.0493	0.0668	0.0662	0.0529	0.0438	0.0694	0.0613	0.0593	0.0560	0.0469	0.0546	0.0684	0.0704	0.0707	0.0688	0.0722	0.0893	0.0693	0.0688	0.0821	0.0792	0.0620	0.2246	0.0668	0.0926	0.0862	0.0897	0.0660	0.0677	0.0780	0.0893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1874.27	14	chr5	126593308	.	A	AACACACAC	1874.27	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.109;DP=145;ExcessHet=0.3696;FS=1.125;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.79;ReadPosRankSum=0.128;SOR=1.085	GT:AD:DP:GQ:PL	0/1:0,22:27:57:1134,137,57	6	0	1	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	451	281	404	386	0	1176	0.67664	.	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0.546324	0.454545	0.528533	0.593567	0.550000	0.560345	0.573171	0.606061	0.5714	6818.76	72	chr5	138556481	.	G	A	6818.76	.	AC=8;AF=0.571;AN=14;BaseQRankSum=0.518;DP=470;ExcessHet=1.4958;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-0.124;SOR=0.656	GT:AD:DP:GQ:PL	1/1:0,95:95:99:2931,285,0	1	2	4	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	177093242	177093242	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_001354984:exon9:c.G1162A:p.G388R,FGFR4:NM_002011:exon9:c.G1162A:p.G388R,FGFR4:NM_213647:exon9:c.G1162A:p.G388R	.	415	588	404	115	0	634	0.350276	.	.	.	31365	Cancer_progression_and_tumor_cell_motility|See_cases|FGFR4-related_disorder|not_specified	MedGen:C4016099|.|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	.	0.2423	0.299521	0.3210	0.1323	0.4337	0.4495	0.3358	0.3029	0.3112	0.3580	0.309718	47883	154602	rs351855	0.3062	0.3062	0.3051	0.3073	0.4369	0.3054	0.3051	0.4315	0.4292	0.1286	0.4070	0.3161	0.4369	0.3292	0.2908	0.2980	0.3088	0.3500	0.2682	0.2685	0.2646	0.2721	0.4490	0.2660	0.2651	0.4337	0.4275	0.1329	0.2719	0.3301	0.3207	0.4490	0.3254	0.2245	0.3048	0.2718	0.3663	0.12	0.27904	T	0.358	0.17064	T	0.998	0.73220	D	0.7	0.54153	P	0.005687	0.32589	N	0.316526	0.0177303	0.81001	P	1.5	0.37844	L	-1.67	0.82806	D	-0.16	0.09460	N	0.469	0.50508	-0.8840	0.49440	T	0.000	0.00011	T	9	0.0041104257	0.00081	T	.	.	.	0.519	0.79522	0.255	0.19533	.	.	0.7522868110974598	0.75175	0.827512574282	0.67481	0.476968705654	0.35640	T	0.259171	0.63041	T	-0.237093	0.15723	T	0.0304758	0.72308	D	0.0179416488997758	0.00520	T	0.631737	0.24648	T	0.10127284	0.23920	0.10703784	0.25763	0.10127284	0.23920	0.1078294	0.25965	-4.362	0.29037	T	.	.	0.313	0.60805	B	.;.	.;.	4.760676	0.76968	26.6	0.99879957222399041	0.95653	0.97395	0.74477	D	AEFDGBCI	0.850981	0.76783	D	0.164708132140378	0.49509	3.150608	0.211651071616305	0.50492	3.240753	0.999999535481989	0.74766	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	4.29	4.29	0.50359	6.850000	0.75217	6.632000	0.56155	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0906:0.0:0.9094:0.0	11.212	0.48035	835	0.38313	.;.	FGFR4|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|RGS14|PRELID1|FGFR4|RGS14|FGFR4|RGS14|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|UIMC1|RGS14|FGFR4|FGFR4|PRELID1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood	.	.	rs351855	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.283988	0.252525	0.250000	0.336257	0.400000	0.275862	0.240854	0.363636	0.2857	3724.17	33	chr5	177093242	.	G	A	3724.17	.	AC=4;AF=0.286;AN=14;BaseQRankSum=2.19;DP=298;ExcessHet=0.0921;FS=1.236;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=20.35;ReadPosRankSum=-0.271;SOR=0.764	GT:AD:DP:GQ:PL	0/1:37,34:71:99:926,0,881	4	1	2	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	5	101	508	907	1	2323	0.919968	.	.	.	54134	Woolly_hair-skin_fragility_syndrome|not_provided|DSP-related_disorder|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Cardiovascular_phenotype|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|.|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0.767875	0.792929	0.766304	0.698830	0.800000	0.810345	0.829268	0.704545	0.8571	44484.1	201	chr6	7585734	.	G	C	44484.1	.	AC=12;AF=0.857;AN=14;BaseQRankSum=4.13;DP=1788;ExcessHet=0.3476;FS=1.421;MLEAC=12;MLEAF=0.857;MQ=60;MQRankSum=0;QD=25.65;ReadPosRankSum=1.19;SOR=0.851	GT:AD:DP:GQ:PL	1/1:0,351:351:99:11937,1054,0	0	5	2	0
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	32039081	32039081	C	A	UTR5	CYP21A2	NM_001368143:c.-126C>A;NM_001368144:c.-126C>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	9	182	648	678	5	2009	0.846284	.	.	YES	193439	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	0.6293	0.650759	0.7060	0.7281	0.7932	0.7161	0.6224	0.7014	0.6834	0.6705	0.588071	90917	154602	rs6467	0.5950	0.5925	0.5939	0.5962	0.7333	0.5940	0.5935	0.7265	0.7237	0.6439	0.7333	0.6468	0.6576	0.4707	0.6835	0.5882	0.6013	0.6165	0.6088	0.6089	0.6127	0.6048	0.7113	0.6055	0.6042	0.7001	0.6955	0.6364	0.6394	0.7113	0.6359	0.6316	0.4363	0.6130	0.5918	0.6460	0.5973	0.313	0.13879	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-0.3	0.67874	T	0.4	0.03463	N	.	.	-1.0318	0.19873	T	0.093	0.35444	T	5	1.7294652e-06	0.00003	T	.	.	.	0.034	0.08419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.636234	0.00088	T	-0.542863	0.18016	T	0.00180369962629931	0.00018	T	0.226077	0.02982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05535	B	.	.	0.164705	0.05545	2.006	0.43740471587862012	0.03314	0.00179	0.01050	N	AEFBI	0.087333	0.17709	N	-1.19446011224149	0.05083	0.2309094	-1.36986281538789	0.03577	0.1671443	1.13245368839307E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	3.06	-0.591	0.11090	-0.233000	0.09056	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1987:0.5349:0.1383:0.1281	3.239	0.06373	923	0.18507	.	TCF19|C4A|CYP21A2|HLA-DRB9|HLA-DRB5|C4A|CYP21A1P|TNXA|HLA-DRB5|TNXA|CFB|MICB|C6orf48|CFB|C4A|CYP21A1P|HLA-DRB5|MICB|C4A|C4A|HLA-DRB9|HLA-DRB5|HLA-DOB|HLA-DMB|MICB|DDAH2|C4A|C4B|PSMB9|HLA-DRB5|HLA-DRB5|C4A|HLA-DRB5|PSORS1C1|MICB|LY6G6C|C4A|HLA-DRB5|C4A|C4A|HLA-DRB5|HLA-DRB5|MICB|TNXA|HLA-DRB5|MICB|C4A|HLA-DRB5|C4A|CYP21A1P|HLA-DRB5|C4A|TNXA|CYP21A2|HLA-DRB5|C6orf48|C4A|C4B|HLA-DRB5|MICB|MSH5|C6orf48|C4A|C4B|HLA-DRB5|C4A|TNXA|TAP1|HCG22|MICB|C4A|CYP21A1P|HLA-DRB9|HLA-DRB5|HLA-DMA|C4A|C4A|C4B|HLA-DRB5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|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|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	DXO|HLA-DRB5|HLA-DRB6|HLA-DRB1|VARS|VARS|C6orf15|CDSN|DXO|HLA-DQA1|DXO|CYP21A1P|CYP21A2	Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Cerebellum|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis	rs6467	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.8571	9493.28	43	chr6	32039081	.	C	A	9493.28	.	AC=12;AF=0.857;AN=14;BaseQRankSum=1.55;DP=364;ExcessHet=0.3476;FS=1.313;MLEAC=12;MLEAF=0.857;MQ=59.97;MQRankSum=0;QD=26.44;ReadPosRankSum=1.21;SOR=0.552	GT:AD:DP:GQ:PL	1/1:0,126:126:99:3791,377,0	0	5	2	0
chr6	42963890	42963893	TTTA	-	UTR3	PEX6	NM_001316313:c.*445_*442delTAAA;NM_000287:c.*445_*442delTAAA	.	.	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	639	398	139	346	0	831	0.510756	.	.	.	300174	not_provided|PEX6_POLYMORPHISM|not_specified|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.647364	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs144286892	0.5727	0.5907	0.5681	0.5768	0.9184	0.5710	0.5703	0.9056	0.9003	0.9184	0.5473	0.5051	0.3599	0.5005	0.6168	0.5761	0.5928	0.6450	0.6587	0.6629	0.6658	0.6513	0.9162	0.6553	0.6538	0.9083	0.9051	0.9162	0.6826	0.5830	0.5087	0.3234	0.5061	0.5810	0.5796	0.6463	0.6385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	360.14	12	chr6	42963889	.	GTTTA	G	360.14	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.967;DP=35;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=30.43;ReadPosRankSum=0.21;SOR=1.022	GT:AD:DP:GQ:PL	0/1:1,5:6:27:198,0,27	3	2	1	1
chr6	49444686	49444686	G	A	exonic	MMUT	.	synonymous SNV	MMUT:NM_000255:exon9:c.C1629T:p.S543S	.	0	1482	38	2	0	42	0.0139721	.	.	YES	98589	Methylmalonic_aciduria_due_to_complete_methylmalonyl-CoA_mutase_deficiency|not_specified|Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency|not_provided	.|MedGen:CN169374|MONDO:MONDO:0009612,MedGen:C1855114,OMIM:251000,Orphanet:27|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0043	0.00359425	0.0049	0.0011	0.0029	0	0.0008	0.0069	0.0066	0.0044	0.0048576	751	154602	rs150642856	0.0065	0.0065	0.0064	0.0065	0.0203	0.0064	0.0063	0.0173	0.0162	0.0010	0.0036	0.0079	2.52e-05	0.0008	0.0203	0.0073	0.0064	0.0043	0.0048	0.0048	0.0050	0.0046	0.0079	0.0045	0.0044	0.0073	0.0071	0.0011	0.0022	0.0043	0.0075	0	0.0008	0.0272	0.0079	0.0080	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.012601	0.010101	0.009511	0.008772	0.050000	0.008621	0.018405	0.022727	0.1429	1885.65	36	chr6	49444686	.	G	A	1885.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.912;DP=357;ExcessHet=0.3476;FS=2.388;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.079;SOR=0.549	GT:AD:DP:GQ:PL	0/1:54,39:93:99:836,0,1170	5	0	2	0
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	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	131587706	131587706	C	A	exonic	MED23	.	synonymous SNV	MED23:NM_001376524:exon27:c.G3693T:p.V1231V,MED23:NM_001376522:exon28:c.G3909T:p.V1303V,MED23:NM_001376523:exon28:c.G3825T:p.V1275V,MED23:NM_001376519:exon29:c.G3942T:p.V1314V,MED23:NM_004830:exon29:c.G4080T:p.V1360V,MED23:NM_001376517:exon30:c.G4098T:p.V1366V,MED23:NM_001376518:exon30:c.G4026T:p.V1342V,MED23:NM_001376520:exon30:c.G3939T:p.V1313V	Mental retardation, autosomal recessive 18, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	425669	MED23-related_disorder|not_provided|Inborn_genetic_diseases|Intellectual_disability,_autosomal_recessive_18	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013651,MedGen:C3280265,OMIM:614249,Orphanet:88616	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0029	0.00319489	0.0011	0.0127	0.0002	0	0	3.003e-05	0	0	0.0010414	161	154602	rs138742804	0.0004	0.0004	0.0004	0.0003	0.0133	0.0003	0.0003	0.0123	0.0119	0.0133	0.0004	0	0	0	0.0005	1.439e-05	0.0007	1.159e-05	0.0034	0.0034	0.0035	0.0033	0.0119	0.0031	0.0030	0.0110	0.0107	0.0119	0	0.0007	0	0	0	0.0034	4.41e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	826.27	34	chr6	131587706	.	C	A	826.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.511;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.159;SOR=0.621	GT:AD:DP:GQ:PL	0/1:37,33:70:99:836,0,896	5	0	1	1
chr6	131847856	131847856	-	TT	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	.	.	.	.	.	.	.	.	.	298997	not_provided|Hypophosphatemic_Rickets,_Recessive|Arterial_calcification,_generalized,_of_infancy,_1	MedGen:C3661900|MedGen:CN239452|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs879243445	0.0018	0.0016	0.0019	0.0016	0.0332	0.0017	0.0017	0.0313	0.0305	0.0332	0.0014	4.947e-05	0	0.0075	0.0016	0.0007	0.0030	0.0003	0.0129	0.0127	0.0130	0.0127	0.0433	0.0124	0.0122	0.0415	0.0408	0.0433	0	0.0035	0	0	0.0115	0.0038	0.0010	0.0108	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1283.19	22	chr6	131847856	.	G	GTT	1283.19	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.649;DP=151;ExcessHet=0.1336;FS=10.393;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.78;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,13:23:99:.:.:237,0,340:.	5	0	1	1
chr6	131851228	131851228	A	C	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon4:c.A517C:p.K173Q	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	2	993	455	72	0	599	0.231721	.	.	YES	28628	Obesity|Hypopigmentation-punctate_palmoplantar_keratoderma_syndrome|Insulin_resistance,_susceptibility_to|Type_2_diabetes_mellitus|not_provided|Hypophosphatemic_rickets|Diabetes_mellitus_type_2,_susceptibility_to|Hypophosphatemic_rickets,_autosomal_recessive,_2|Arterial_calcification,_generalized,_of_infancy,_1|Inherited_obesity|ENPP1-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529|MONDO:MONDO:0014227,MedGen:C3809781,OMIM:615522,Orphanet:324561|MedGen:C1852091|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:C3661900|Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375|MedGen:C3837967|MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	.	0.3502	0.342252	0.2063	0.7833	0.1748	0.0993	0.1346	0.1522	0.1751	0.1698	0.0048025	125	26028	rs1044498	0.1615	0.1616	0.1636	0.1594	0.7978	0.1610	0.1608	0.7898	0.7865	0.7978	0.1927	0.2216	0.0933	0.1280	0.2302	0.1406	0.1991	0.1710	0.3286	0.3290	0.3348	0.3222	0.7756	0.3262	0.3252	0.7685	0.7655	0.7756	0.3158	0.2446	0.2323	0.0942	0.1217	0.2347	0.1422	0.2955	0.1774	0.315	0.13789	T	0.379	0.16037	T	0.072	0.23997	B	0.068	0.27651	B	0.587550	0.11081	N	0.811774	1	0.08975	P	1.81	0.47622	L	0.95	0.43279	T	-1.57	0.37955	N	0.031	0.00770	-1.0817	0.07022	T	0.051	0.21689	T	9	9.3244637e-07	0.00003	T	.	.	.	0.055	0.15663	.	.	.	.	0.5922575994283148	0.59155	0.222986614552	0.24826	0.243391931057	0.03104	T	0.403814	0.76046	T	-0.729824	0.00024	T	-0.677298	0.07149	T	0.0158636155010768	0.00372	T	0.369163	0.08660	T	0.08555309	0.19849	0.05395216	0.09186	0.0991331	0.23392	0.07375446	0.16063	-3.387	0.14882	T	0.2569421100413521	0.34729	0.068	0.02927	B	.;.	.;.	1.664263	0.21222	15.10	0.93115564684636221	0.22749	0.05113	0.10917	N	AEFBIJ	0.105389	0.21059	N	-0.736100686356782	0.15014	0.7529111	-0.6970689374069	0.17033	0.9038945	0.375294786666874	0.19909	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.55	3.39	0.37919	1.445000	0.34690	2.351000	0.32314	-0.234000	0.07639	0.003000	0.16062	0.006000	0.19429	0.928000	0.46473	0.8272:0.1728:0.0:0.0	14.335	0.66145	833	0.38804	Somatomedin B domain|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain	ENPP1	Pancreas	.	.	rs1044498	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.261833	0.328283	0.322011	0.283626	0.300000	0.181034	0.176829	0.151515	0.2857	4355.83	56	chr6	131851228	.	A	C	4355.83	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.735;DP=367;ExcessHet=0.0921;FS=0.997;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=2.71;SOR=0.613	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1181,0,1031	4	1	2	0
chr6	151615542	151615542	G	A	exonic	CCDC170	.	nonsynonymous SNV	CCDC170:NM_025059:exon10:c.G1810A:p.V604I	.	426	448	452	196	0	844	0.485057	.	.	.	165622	not_specified|Estrogen_resistance_syndrome|CCDC170-related_condition	MedGen:CN169374|MONDO:MONDO:0014148,MedGen:C3809250,OMIM:615363,Orphanet:785|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	.	0.3802	0.349441	0.3172	0.5003	0.1910	0.3218	0.1861	0.3212	0.3056	0.3314	0.307053	47471	154602	rs6929137	0.3255	0.3255	0.3250	0.3260	0.4982	0.3247	0.3244	0.4918	0.4892	0.4982	0.2070	0.3629	0.2803	0.1923	0.3932	0.3303	0.3428	0.3334	0.3565	0.3568	0.3642	0.3484	0.4987	0.3540	0.3529	0.4931	0.4907	0.4987	0.2637	0.2723	0.3589	0.3187	0.1773	0.4252	0.3218	0.3667	0.3291	0.356	0.12070	T	0.224	0.25591	T	0.026	0.19406	B	0.015	0.17295	B	0.007735	0.31228	N	0.296403	0.0986944	0.36178	P	1.43	0.35840	L	3.03	0.08898	T	-0.01	0.07155	N	0.018	0.00252	-1.0055	0.28307	T	0.136	0.45241	T	9	0.00022158027	0.00010	T	.	.	.	0.044	0.11924	.	.	.	.	0.072239817166933	0.07160	0.0961944766766	0.10857	0.265175282955	0.05523	T	0.004809	0.04227	T	-0.803418	0.00007	T	-0.78301	0.02364	T	0.00568248394408548	0.00062	T	0.713629	0.32527	T	0.02158561	0.00769	0.03398084	0.02386	0.02158561	0.00769	0.039030753	0.03904	-4.215	0.26968	T	0.6843976527898016	0.76122	0.083	0.09191	B	.	.	1.233171	0.16282	12.44	0.85539978010704987	0.15956	0.53578	0.29406	D	AEFBCI	0.144195	0.26709	N	-0.602800261098824	0.18859	0.9825487	-0.494072335675999	0.22316	1.211517	0.0315713748674104	0.14009	0.516011	0.20929	0	0.573888	0.26702	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	6.16	3.37	0.37692	0.969000	0.28967	5.021000	0.46746	-0.113000	0.14837	0.637000	0.28059	1.000000	0.68203	0.773000	0.36634	0.126:0.1149:0.7591:0.0	9.868	0.40328	938	0.14419	.	CCDC170	Brain_Substantia_nigra	.	.	rs6929137	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.379536	0.357143	0.388587	0.415205	0.500000	0.396552	0.362805	0.337121	0.4286	5214.38	85	chr6	151615542	.	G	A	5214.38	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.01;DP=397;ExcessHet=0.0509;FS=2.753;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=18.04;ReadPosRankSum=1;SOR=0.662	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1623,0,1591	3	2	2	0
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A,SOD2:NM_001322814:exon2:c.T47C:p.V16A,SOD2:NM_001322815:exon2:c.T47C:p.V16A,SOD2:NM_001322816:exon2:c.T47C:p.V16A	.	426	313	516	267	0	1050	0.626492	.	.	.	29790	SOD2_POLYMORPHISM|Microvascular_complications_of_diabetes,_susceptibility_to,_6	.|MONDO:MONDO:0012970,MedGen:C2675128,OMIM:612634	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.048	.	0.4731	0.410743	0.5024	0.4521	0.6492	0.1596	0.5033	0.5162	0.4902	0.5375	0.0001153	3	26028	rs4880	0.4921	0.4920	0.4930	0.4912	0.6131	0.4912	0.4908	0.6070	0.6045	0.4286	0.6131	0.5060	0.1309	0.4807	0.4419	0.5013	0.4763	0.5191	0.4704	0.4704	0.4750	0.4656	0.5368	0.4675	0.4663	0.5271	0.5231	0.4245	0.4901	0.5368	0.5193	0.1435	0.4668	0.4658	0.5033	0.4693	0.5118	0.926	0.09806	T	0.979	0.20680	T	0.024	0.19075	B	0.014	0.16862	B	0.003125	0.35389	N	0.321860	1	0.28987	P	.	.	.	2.8	0.17923	T	0.35	0.06138	N	0.034	0.02964	-0.9308	0.44021	T	0.008	0.02679	T	8	3.9671322e-05	0.00008	T	.	.	.	0.048	0.13305	.	.	.	.	0.24148455001478597	0.24062	0.559626915364	0.52497	0.639073014259	0.58432	T	0.006216	0.10632	T	-0.680986	0.00047	T	-0.607145	0.12218	T	0.00926767202390716	0.00118	T	0.00962761	0.00101	T	0.019719824	0.00509	0.04335931	0.05377	0.019719824	0.00508	0.04335931	0.05376	-2.567	0.10127	T	.	.	0.065	0.07412	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.792224	0.11628	8.214	0.81617120455707348	0.13775	0.13403	0.17836	N	ALL	0.032084	0.03557	N	-0.854084909372284	0.11949	0.5796162	-0.812104859326894	0.14202	0.7408959	0.999999999993235	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.08	0.34576	2.202000	0.42377	4.081000	0.41738	-0.176000	0.10722	0.649000	0.28163	0.999000	0.35428	0.111000	0.18785	0.1374:0.121:0.7416:0.0	9.062	0.35603	725	0.54935	.;.;.;.;.;.;.;.	RP3-393E18.2|MRPL18|RP3-393E18.2|WTAP|MRPL18|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|MRPL18|PNLDC1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2|ACAT2|MRPL18|MRPL18|RP3-393E18.2|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|MRPL18|SOD2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|ACAT2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|RP3-393E18.2|HNRNPH1P1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Brain_Hippocampus|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|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|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood	SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|MRPL18	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis	rs4880	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.440524	0.429293	0.388587	0.514620	0.650000	0.439655	0.429448	0.477273	0.5	6078.12	33	chr6	159692840	.	A	G	6078.12	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.446;DP=294;ExcessHet=0.3696;FS=1.405;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.12;ReadPosRankSum=0.657;SOR=0.551	GT:AD:DP:GQ:PL	0/1:35,28:63:99:867,0,1015	2	2	3	0
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q,TBP:NM_003194:exon3:c.G228A:p.Q76Q	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	136006	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0538	0.0989	0.0432	0.0847	0.0282	0.0395	0.0472	0.0948	0.0001537	4	26028	rs112083427	0.2067	0.2951	0.1908	0.2228	0.4566	0.2057	0.2053	0.4473	0.4435	0.2151	0.4566	0.3745	0.4431	0.4300	0.2950	0.1554	0.2683	0.3748	0.2313	0.2572	0.2287	0.2342	0.3402	0.2291	0.2282	0.3316	0.3280	0.1263	0.1041	0.3402	0.2648	0.2368	0.3166	0.3025	0.2555	0.2464	0.2883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0.222904	0.295699	0.183924	0.233918	0.250000	0.155172	0.208861	0.189394	0.4286	5108.06	49	chr6	170561964	.	G	A	5108.06	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.991;DP=760;ExcessHet=0.4813;FS=1.376;MLEAC=6;MLEAF=0.429;MQ=59.96;MQRankSum=0;QD=12.83;ReadPosRankSum=2.57;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,21:67:99:1|0:170561925_A_ACAG:1256,0,1765:170561925	2	1	4	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	5	243	697	577	0	1851	0.792041	.	.	.	195811	Primary_ciliary_dyskinesia_7|DNAH11-related_disorder|not_provided	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10960.4	49	chr7	21867834	.	G	GT	10960.4	.	AC=10;AF=0.714;AN=14;BaseQRankSum=-1.147;DP=401;ExcessHet=2.5225;FS=2.299;MLEAC=10;MLEAF=0.714;MQ=60;MQRankSum=0;QD=27.96;ReadPosRankSum=-0.669;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,43:78:99:0|1:21867834_G_GT:1678,0,1340:21867834	0	3	4	0
chr7	30633897	30633897	A	-	UTR3	GARS1	NM_001316772:c.*37delA;NM_002047:c.*37delA	.	.	.	.	.	.	.	.	.	.	.	.	.	311094	Peripheral_axonal_neuropathy|not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2	Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4340	0.3441	0.4374	0.3782	0.4914	0.4724	0.4415	0.3535	0.0001153	3	26028	rs70983380	0.4481	0.4561	0.4506	0.4455	0.4627	0.4470	0.4466	0.4612	0.4607	0.3255	0.4260	0.4633	0.3725	0.4512	0.4627	0.4624	0.4401	0.3583	0.5853	0.5832	0.5905	0.5799	0.6886	0.5820	0.5807	0.6833	0.6812	0.4015	0.7719	0.5987	0.7201	0.4922	0.6382	0.6586	0.6886	0.5897	0.4457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1551.99	11	chr7	30633896	.	TA	T	1551.99	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.15;DP=138;ExcessHet=3.1439;FS=5.336;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-0.842;SOR=1.397	GT:AD:DP:GQ:PL	1/0:0,10:21:99:594,285,226	0	0	6	1
chr7	30633897	30633898	AA	-	UTR3	GARS1	NM_001316772:c.*37_*38delAA;NM_002047:c.*37_*38delAA	.	.	.	338	128	20	2	1034	1058	0.0857143	.	.	.	311092	Peripheral_axonal_neuropathy|not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2	Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1458	0.1444	0.1211	0.1934	0.0825	0.1342	0.1377	0.1975	0.001921	50	26028	rs1264036389	0.1231	0.1309	0.1212	0.1251	0.1942	0.1226	0.1224	0.1901	0.1884	0.1278	0.0990	0.1304	0.1942	0.0985	0.1716	0.1165	0.1342	0.1800	0.1053	0.1040	0.1039	0.1069	0.2053	0.1039	0.1033	0.1943	0.1899	0.1248	0.0146	0.0971	0.0960	0.1870	0.0699	0.1181	0.0886	0.1355	0.2053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1551.99	11	chr7	30633896	.	TAA	T	1551.99	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.15;DP=138;ExcessHet=3.1439;FS=5.336;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-0.842;SOR=1.397	GT:AD:DP:GQ:PL	0/1:0,11:21:99:594,231,199	4	0	2	1
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	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	4651.75	18	chr7	92499847	.	CA	C	4651.75	.	AC=11;AF=0.786;AN=14;BaseQRankSum=-0.911;DP=239;ExcessHet=0;FS=0;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=27.36;ReadPosRankSum=1.54;SOR=0.951	GT:AD:DP:GQ:PL	1/1:0,21:23:67:602,68,0	1	5	1	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	2	82	476	962	0	2400	0.936037	.	.	.	135324	Maturity_onset_diabetes_mellitus_in_young|not_specified|Type_2_diabetes_mellitus|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|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:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.814271	0.836735	0.841033	0.835294	0.750000	0.793103	0.754601	0.746154	0.7857	13950.1	64	chr7	127611134	.	T	G	13950.1	.	AC=11;AF=0.786;AN=14;BaseQRankSum=1.17;DP=578;ExcessHet=1.1394;FS=0.666;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=24.65;ReadPosRankSum=0.824;SOR=0.586	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3287,318,0	0	4	3	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	.	2137883	PODXL-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0022	0	0	0	0	0.0001229	19	154602	rs201551993	2.992e-05	3.42e-05	2.532e-05	3.464e-05	0.0009	2.24e-05	1.987e-05	0.0007	0.0006	0	0	0	0.0009	0	0	9.242e-07	8.58e-05	3.769e-05	6.566e-05	6.562e-05	3.854e-05	9.4e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	514.95	26	chr7	131505863	.	C	T	514.95	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.484;DP=383;ExcessHet=2.5225;FS=253.118;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.72;ReadPosRankSum=1.03;SOR=8.977	GT:AD:DP:GQ:PL	0/1:58,26:84:99:166,0,1242	3	0	4	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
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	144511485	144511485	G	A	exonic	RECQL4	.	synonymous SNV	RECQL4:NM_004260:exon21:c.C3573T:p.S1191S	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	240240	Hereditary_cancer-predisposing_syndrome|Baller-Gerold_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0001	0.0001	8.669e-05	0	0	0.0002	0	0	0.0001035	16	154602	rs199885535	0.0001	0.0001	9.675e-05	0.0001	0.0002	9.546e-05	9.026e-05	8.863e-05	6.428e-05	0.0001	0.0002	0.0036	0	0	0	3.238e-05	0.0003	2.319e-05	0.0001	0.0001	0.0002	8.053e-05	0.0002	9.735e-05	8.251e-05	5.276e-05	2.832e-05	9.623e-05	0	0.0002	0.0029	0	0	0	5.881e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	1174.63	36	chr8	144511485	.	G	A	1174.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.429;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.355;SOR=0.65	GT:AD:DP:GQ:PL	0/1:43,52:95:99:1185,0,1085	6	0	1	0
chr9	2622147	2622155	CGGCGGCGG	-	ncRNA_exonic	VLDLR-AS1	.	.	.	.	134	297	245	137	709	1228	0.466307	.	.	.	274730	not_provided|Congenital_cerebellar_hypoplasia|not_specified	MedGen:C3661900|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3265	0.30631	0.1908	0.1477	0.2045	0.25	0.125	0.2247	0.2105	0.1797	0.0002717	42	154602	rs369552432	0.3801	0.3475	0.3852	0.3748	0.4136	0.3792	0.3788	0.4075	0.4050	0.1944	0.3970	0.2985	0.4136	0.3827	0.2810	0.3964	0.3561	0.2349	0.3293	0.3297	0.3288	0.3298	0.4202	0.3269	0.3259	0.4055	0.4020	0.1981	0.1914	0.4141	0.2980	0.4202	0.3595	0.3483	0.3884	0.3335	0.2385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8772.59	35	chr9	2622146	.	ACGGCGGCGG	A	8772.59	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.396;DP=281;ExcessHet=0;FS=1.454;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=28.03;ReadPosRankSum=-0.138;SOR=0.538	GT:AD:DP:GQ:PL	1/1:0,39:39:99:1756,118,0	1	1	4	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	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	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	132897614	132897614	A	-	intronic	TSC1	.	.	.	Lymphangioleiomyomatosis;Tuberous sclerosis-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	58145	Tuberous_sclerosis_syndrome|not_provided|Tuberous_sclerosis_1|Hereditary_cancer-predisposing_syndrome|not_specified|Isolated_focal_cortical_dysplasia_type_II	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.342652	0.2827	0.3340	0.2770	0.2973	0.3197	0.2811	0.2717	0.2332	0.0002689	7	26028	rs118203716	0.1067	0.1211	0.1068	0.1066	0.1678	0.1063	0.1061	0.1637	0.1620	0.1678	0.1293	0.1160	0.0999	0.1215	0.1610	0.1053	0.1095	0.0811	0.0585	0.0528	0.0588	0.0581	0.0633	0.0572	0.0567	0.0615	0.0608	0.0601	0.0667	0.0514	0.0821	0.0102	0.0409	0.0750	0.0633	0.0607	0.0347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1334.72	29	chr9	132897613	.	GA	G	1334.72	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.407;DP=357;ExcessHet=2.5225;FS=0.658;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.549;SOR=0.783	GT:AD:DP:GQ:PL	0/1:15,7:29:23:128,0,266	1	0	6	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V,ADAMTSL2:NM_014694:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	1	295	703	523	0	1749	0.747755	.	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	.	.	.	.	.	.	.	.	0.6429	9203.22	70	chr9	133569476	.	A	G	9203.22	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-0.495;DP=489;ExcessHet=0.4813;FS=1.214;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=19.54;ReadPosRankSum=0.585;SOR=0.57	GT:AD:DP:GQ:PL	0/1:74,50:124:99:1113,0,1891	1	3	3	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	1265	97	26	134	0	294	0.602459	.	.	.	322826	Hypoparathyroidism,_deafness,_renal_disease_syndrome|not_provided	MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	676.88	3	chr10	8074278	.	G	GA	676.88	.	AC=9;AF=0.9;AN=10;BaseQRankSum=1.98;DP=37;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.9;MQ=60;MQRankSum=0;QD=22.56;ReadPosRankSum=0.126;SOR=1.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,6:6:18:.:.:169,18,0:.	0	4	1	2
chr10	23193706	23193706	T	C	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon2:c.T787C:p.S263P	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	277	416	362	467	0	1296	0.609023	.	.	.	135501	not_provided|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome|not_specified|Permanent_neonatal_diabetes_mellitus|Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2	MedGen:C3661900|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288|MedGen:CN169374|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.357	.	0.5108	0.624401	0.5470	0.5697	0.7022	0.8903	0.4327	0.4864	0.5430	0.5350	0.523195	80887	154602	rs7918487	0.4938	0.4962	0.4927	0.4948	0.8378	0.4928	0.4924	0.8302	0.8271	0.5601	0.6724	0.5597	0.8378	0.4417	0.6054	0.4672	0.5268	0.5353	0.5240	0.5241	0.5217	0.5264	0.8799	0.5210	0.5197	0.8585	0.8498	0.5578	0.4215	0.5843	0.5542	0.8799	0.4411	0.6327	0.4725	0.5375	0.5558	0.035	0.43708	D	0.009	0.66756	D	0.022	0.18677	B	0.011	0.15521	B	0.000012	0.62929	N	0.068790	0.00248586	0.43951	P	1.18	0.29980	L	-3.56	0.94869	D	-2.27	0.50666	N	0.06	0.03175	-0.9246	0.44915	T	0.000	0.00011	T	9	7.2453116e-07	0.00003	T	.	.	.	0.357	0.67782	.	.	.	.	0.8029689689293238	0.80250	.	.	0.808061718941	0.83195	D	0.245918	0.61529	T	-0.418964	0.01736	T	-0.230769	0.51698	T	0.0349258213578647	0.02795	T	0.630137	0.24490	T	0.42178693	0.62210	0.62976736	0.78405	0.41815445	0.61969	0.6288712	0.78357	-5.729	0.43950	T	0.22715938275925626	0.30707	0.161	0.35643	B	.	.	3.140397	0.42469	21.5	0.98917447264891534	0.48491	0.98167	0.80181	D	AEFDBCI	0.815195	0.73723	D	-0.175553205708038	0.34153	1.946079	-0.064842511773185	0.36855	2.150201	0.999832780372402	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.34	3.02	0.33970	4.083000	0.57365	2.832000	0.35027	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.500000	0.29017	0.0:0.1441:0.0:0.8559	9.307	0.37045	833	0.38804	.	C10orf67|C10orf67|ARMC3|MSRB2|C10orf67|C10orf67|C10orf67|C10orf67	Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	C10orf67	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0.638469	0.611111	0.634511	0.652047	0.450000	0.637931	0.667683	0.609848	0.7857	3538.65	17	chr10	23193706	.	T	C	3538.65	.	AC=11;AF=0.786;AN=14;BaseQRankSum=1.13;DP=158;ExcessHet=1.1394;FS=1.841;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=23.75;ReadPosRankSum=0.227;SOR=0.526	GT:AD:DP:GQ:PL	0/1:14,9:23:99:227,0,367	0	4	3	0
chr10	52771475	52771475	C	T	exonic	MBL2	.	nonsynonymous SNV	MBL2:NM_000242:exon1:c.G161A:p.G54D,MBL2:NM_001378373:exon2:c.G161A:p.G54D,MBL2:NM_001378374:exon2:c.G161A:p.G54D	.	417	840	239	26	0	291	0.147641	.	.	.	29389	not_specified|not_provided|Mannose-binding_lectin_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013714,MedGen:C3280586,OMIM:614372	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.728	.	0.1026	0.122005	0.1389	0.0297	0.1677	0.1731	0.1385	0.1459	0.1487	0.1406	0.136693	21133	154602	rs1800450	0.1410	0.1410	0.1409	0.1411	0.1881	0.1405	0.1403	0.1846	0.1831	0.0277	0.1741	0.1373	0.1881	0.1334	0.1189	0.1421	0.1382	0.1408	0.1164	0.1166	0.1139	0.1191	0.1726	0.1150	0.1144	0.1671	0.1649	0.0339	0.1956	0.1726	0.1503	0.1676	0.1467	0.1361	0.1412	0.1237	0.1363	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.001384	0.39175	N	0.117435	0.000104405	0.50595	P	4.29	0.98219	H	-5.77	0.99345	D	-6.1	0.89985	D	0.18	0.19459	-1.2495	0.00008	T	0.185	0.53376	T	9	0.0017509758	0.00022	T	.	.	.	0.728	0.90457	.	.	.	.	0.8229376436818094	0.82250	0.497859118466	0.48274	0.621536254883	0.55947	T	0.723671	0.92210	D	-0.0856461	0.38793	T	0.248019	0.85524	D	0.0679099384046752	0.08356	T	0.973953	0.90669	D	0.8690599	0.88787	0.84412843	0.91112	0.8690599	0.88789	0.81878877	0.89461	-13.651	0.91867	D	0.8926840177459547	0.94682	0.830	0.78746	P	.	.	4.151795	0.62284	24.4	0.99855563460931351	0.93458	0.69099	0.34055	D	AEFBCI	0.348004	0.44228	N	0.885495860096478	0.91031	10.68206	0.721114162042881	0.83984	8.166846	0.999999443880767	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	3.99	0.45527	2.556000	0.45524	4.049000	0.41491	0.599000	0.40250	0.294000	0.25270	0.998000	0.33993	0.937000	0.47636	0.0:1.0:0.0:0.0	11.885	0.51878	901	0.24189	.	MBL2|MBL2	Nerve_Tibial|Testis	.	.	rs1800450	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.126531	0.118280	0.099455	0.150000	0.222222	0.129310	0.164596	0.131783	0.2857	4733.11	35	chr10	52771475	.	C	T	4733.11	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.59;DP=459;ExcessHet=0.0921;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-1.352;SOR=0.692	GT:AD:DP:GQ:PL	0/1:73,76:149:99:1684,0,1707	4	1	2	0
chr10	71810458	71810458	C	A	intronic	CDH23	.	.	.	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1468	53	1	0	55	0.0183885	.	.	.	55227	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D|not_provided	MedGen:CN169374|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0068	0.00279553	0.0073	0.0024	0.0024	0	0.0032	0.0109	0.0112	0.0044	0.0070827	1095	154602	rs45522532	0.0091	0.0091	0.0091	0.0090	0.0267	0.0090	0.0089	0.0233	0.0220	0.0017	0.0041	0.0090	5.038e-05	0.0046	0.0267	0.0103	0.0092	0.0048	0.0065	0.0065	0.0067	0.0062	0.0099	0.0061	0.0060	0.0093	0.0090	0.0019	0.0110	0.0066	0.0069	0	0.0045	0.0204	0.0099	0.0057	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3106.47	33	chr10	71810458	.	C	A	3106.47	.	AC=2;AF=0.143;AN=14;DP=301;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.16;SOR=1.125	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3126,308,0	6	1	0	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	.	323868	Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant	Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|.|MedGen:CN239310	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5518.63	1	chr10	90918983	.	AATAAATAAATATATATAT	A	5518.63	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.42;DP=181;ExcessHet=0.2119;FS=8.129;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.9;ReadPosRankSum=2.12;SOR=0.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,20:22:23:0|1:90918983_AATAAATAAATATATATAT_A:835,0,23:90918983	1	0	4	2
chr10	94236052	94236052	C	T	exonic	PLCE1	.	synonymous SNV	PLCE1:NM_001165979:exon6:c.C1428T:p.D476D,PLCE1:NM_001288989:exon7:c.C2352T:p.D784D,PLCE1:NM_016341:exon7:c.C2352T:p.D784D	Nephrotic syndrome, type 3, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	317336	Nephrotic_syndrome,_type_3|Kidney_disorder|not_provided	MONDO:MONDO:0012546,MedGen:C1853124,OMIM:610725,Orphanet:656|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.00738818	0.0035	0.0007	0.0003	0	0	3.027e-05	0.0023	0.0244	0.0030077	465	154602	rs201793869	0.0015	0.0015	0.0008	0.0021	0.0227	0.0014	0.0014	0.0219	0.0215	0.0005	0.0004	0	7.559e-05	0	0.0038	5.126e-05	0.0015	0.0227	0.0012	0.0012	0.0009	0.0016	0.0262	0.0011	0.0010	0.0225	0.0211	0.0007	0	0.0017	0	0.0004	0	0	5.881e-05	0	0.0262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.006559	0.005102	0.002717	0.005848	0.000000	0.000000	0.000000	0.015152	0.07143	2922.44	35	chr10	94236052	.	C	T	2922.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.057;DP=415;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=1.1;SOR=0.708	GT:AD:DP:GQ:PL	0/1:99,123:222:99:2933,0,2246	6	0	1	0
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	2692.79	21	chr10	123053169	.	AT	A	2692.79	.	AC=12;AF=0.857;AN=14;BaseQRankSum=-0.229;DP=185;ExcessHet=0.3476;FS=1.039;MLEAC=12;MLEAF=0.857;MQ=60;MQRankSum=0;QD=22.25;ReadPosRankSum=-0.514;SOR=0.876	GT:AD:DP:GQ:PL	0/1:13,8:21:99:137,0,284	0	5	2	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	21	72	439	990	0	2419	0.943816	.	.	.	326978	Maturity-onset_diabetes_of_the_young_type_10|Type_1_diabetes_mellitus_2|Autosomal_recessive_DOPA_responsive_dystonia|Diabetes_mellitus,_permanent_neonatal_4|Transient_Neonatal_Diabetes,_Dominant/Recessive|Diabetes_mellitus_type_1|not_provided|Hyperproinsulinemia|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MedGen:CN239353|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|MedGen:C3661900|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.7857	13545.1	83	chr11	2159830	.	T	G	13545.1	.	AC=11;AF=0.786;AN=14;BaseQRankSum=0.117;DP=679;ExcessHet=1.1394;FS=1.243;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=20.37;ReadPosRankSum=1.65;SOR=0.6	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,104:104:99:.:.:3318,312,0:.	0	4	3	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	6616509	6616509	T	-	intronic	TPP1	.	.	.	Ceroid lipofuscinosis, neuronal, 2, Autosomal recessive;Spinocerebellar ataxia, autosomal recessive 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	321432	Neuronal_Ceroid-Lipofuscinosis,_Recessive|Neuronal_ceroid_lipofuscinosis_2|not_specified|not_provided	MedGen:CN239323|MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1142	0.0799	0.0493	0.0916	0.0410	0.1069	0.1220	0.1456	0.0005379	14	26028	rs35039601	0.3989	0.3867	0.4023	0.3954	0.4118	0.3980	0.3976	0.4108	0.4104	0.3181	0.3268	0.3599	0.3573	0.3454	0.3614	0.4118	0.3926	0.3499	0.5430	0.5451	0.5416	0.5444	0.6143	0.5396	0.5382	0.5937	0.5854	0.4376	0.6847	0.5590	0.5754	0.5442	0.5465	0.5397	0.5915	0.5301	0.6143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2727.75	14	chr11	6616508	.	AT	A	2727.75	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.05;DP=225;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=23.52;ReadPosRankSum=1.74;SOR=0.808	GT:AD:DP:GQ:PL	0/1:0,6:23:64:546,316,254	4	0	2	1
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	9	194	657	662	0	1981	0.836218	.	.	.	319487	Diabetes_mellitus,_transient_neonatal,_3|Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.735823	.	.	.	.	.	.	.	.	0.02213	576	26028	rs5213	0.6509	0.6490	0.6528	0.6489	0.9329	0.6497	0.6492	0.9237	0.9199	0.9329	0.6277	0.6666	0.6333	0.5278	0.7238	0.6500	0.6663	0.6293	0.7178	0.7178	0.7241	0.7113	0.9199	0.7143	0.7128	0.9122	0.9090	0.9199	0.5746	0.6767	0.6737	0.6457	0.5344	0.7041	0.6490	0.6958	0.6272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.8571	8772.06	30	chr11	17386857	.	C	T	8772.06	.	AC=12;AF=0.857;AN=14;BaseQRankSum=0;DP=312;ExcessHet=0.3476;FS=0;MLEAC=12;MLEAF=0.857;MQ=60;MQRankSum=0;QD=28.95;ReadPosRankSum=-1.068;SOR=0.825	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1733,165,0	0	5	2	0
chr11	17395957	17395957	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	445	728	343	0	1414	0.613715	.	.	.	167548	not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4704	0.421526	0.4583	0.7635	0.5950	0.1792	0.4136	0.4287	0.4590	0.3842	0.0121792	317	26028	rs739689	0.3432	0.3401	0.3432	0.3431	0.7497	0.3424	0.3420	0.7418	0.7385	0.7497	0.4335	0.4145	0.1096	0.2056	0.4979	0.3368	0.3619	0.3678	0.4400	0.4401	0.4495	0.4300	0.7292	0.4372	0.4361	0.7223	0.7195	0.7292	0.2325	0.4480	0.4173	0.0892	0.1976	0.4286	0.3364	0.4347	0.3522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	5191.26	31	chr11	17395957	.	A	G	5191.26	.	AC=9;AF=0.75;AN=12;BaseQRankSum=1.85;DP=219;ExcessHet=0;FS=5.611;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=30.18;ReadPosRankSum=-0.829;SOR=0.18	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1550,147,0	1	4	1	1
chr11	17396823	17396823	C	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	16	869	514	123	0	760	0.304243	.	.	.	1166870	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.215855	.	.	.	.	.	.	.	.	0.0387317	5988	154602	rs4148644	0.1966	0.1974	0.1962	0.1971	0.2811	0.1960	0.1958	0.2762	0.2742	0.2811	0.1956	0.2030	0.0815	0.1224	0.2608	0.1993	0.1943	0.2164	0.2111	0.2113	0.2172	0.2047	0.2771	0.2092	0.2084	0.2729	0.2711	0.2771	0.1327	0.2051	0.1967	0.0754	0.1226	0.2177	0.1980	0.2055	0.2143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2801.53	9	chr11	17396823	.	C	A	2801.53	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.12;DP=103;ExcessHet=0;FS=3.435;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.62;ReadPosRankSum=-0.7;SOR=2.33	GT:AD:DP:GQ:PL	1/1:0,24:24:72:980,72,0	3	3	1	0
chr11	47331612	47331612	A	G	UTR3	MYBPC3	NM_000256:c.*131T>C	.	.	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	60	1457	4	1	0	6	0.00205479	.	.	.	326929	Left_ventricular_noncompaction_10|Hypertrophic_cardiomyopathy_4	MONDO:MONDO:0014163,MedGen:C3715165,OMIM:615396,Orphanet:154,Orphanet:54260|MONDO:MONDO:0007268,MedGen:C1861862,OMIM:115197	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs570058149	0.0003	0.0002	0.0001	0.0005	0.0030	0.0003	0.0002	0.0026	0.0024	0	6.449e-05	0	0	0	0	3.567e-05	4.558e-05	0.0030	0.0002	0.0002	0.0001	0.0002	0.0046	0.0001	8.716e-05	0.0031	0.0026	2.406e-05	0	0	0	0	0	0	0	0	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3360.24	34	chr11	47331612	.	A	G	3360.24	.	AC=2;AF=0.143;AN=14;DP=309;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.97;SOR=1.29	GT:AD:DP:GQ:PL	1/1:0,116:116:99:3381,346,0	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	65557854	65557854	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.105_106insCTGCTG:p.L35_G36insLL,LTBP3:NM_021070:exon1:c.105_106insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	390556	not_specified|Geleophysic_dysplasia_3|Brachyolmia-amelogenesis_imperfecta_syndrome	MedGen:CN169374|MONDO:MONDO:0054722,MedGen:C4540511,OMIM:617809|MONDO:MONDO:0011018,MedGen:C1832594,OMIM:601216,Orphanet:2899	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0517173	0.0922	0.0185	0.0385	0	0.0234	0.1274	0.1071	0.0908	0.0029172	451	154602	rs535365850	0.1577	0.1430	0.1586	0.1569	0.1715	0.1571	0.1569	0.1708	0.1705	0.0412	0.1142	0.1239	0.0536	0.0926	0.1486	0.1715	0.1411	0.0804	0.1243	0.1253	0.1302	0.1180	0.1808	0.1228	0.1222	0.1781	0.1770	0.0497	0.2698	0.1236	0.1428	0.0282	0.0948	0.2063	0.1808	0.1207	0.0933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2244.09	22	chr11	65557854	.	C	CCAGCAG	2244.09	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.583;DP=235;ExcessHet=0.0921;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=33;ReadPosRankSum=0.289;SOR=1.077	GT:AD:DP:GQ:PL	0/1:0,23:27:87:1147,160,87	4	0	3	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	89284793	89284793	G	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon4:c.G1205A:p.R402Q	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	9	1058	383	72	0	527	0.199395	.	.	YES	18818	Oculocutaneous_albinism_type_1A|Malignant_tumor_of_breast|Oculocutaneous_albinism_type_1|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Melanoma,_cutaneous_malignant,_susceptibility_to,_8|Skin/hair/eye_pigmentation_3,_blue/green_eyes|Oculocutaneous_albinism_type_1B|Temperature-sensitive_oculocutaneous_albinism_type_1|Autosomal_recessive_ocular_albinism|Elevated_circulating_hepatic_transaminase_concentration|Albinism|Slow_decrease_in_visual_acuity|Abnormality_of_metabolism/homeostasis|Foveal_hypoplasia|Choroidal_neovascularization|not_provided|Albinism_or_congenital_nystagmus|not_specified	MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0018135,MedGen:C0268494,Orphanet:352731|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0013759,MedGen:C3152204,OMIM:614456,Orphanet:293822|MedGen:C3149136|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MONDO:MONDO:0018137,MedGen:C1847132,Orphanet:352737|MONDO:MONDO:0040653,MedGen:C0268503|Human_Phenotype_Ontology:HP:0001411,Human_Phenotype_Ontology:HP:0002910,Human_Phenotype_Ontology:HP:0003143,Human_Phenotype_Ontology:HP:0003156,Human_Phenotype_Ontology:HP:0003293,Human_Phenotype_Ontology:HP:0006567,Human_Phenotype_Ontology:HP:0006578,Human_Phenotype_Ontology:HP:0008267,Human_Phenotype_Ontology:HP:0008342,MedGen:C0235996|Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916|Human_Phenotype_Ontology:HP:0007652,Human_Phenotype_Ontology:HP:0007924,MedGen:C1853141|Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768|Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520|Human_Phenotype_Ontology:HP:0011506,MONDO:MONDO:0810000,MedGen:C0600518|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.695	.	0.2032	0.08127	0.1770	0.0463	0.0916	0.0001	0.1643	0.2648	0.1659	0.0608	0.179804	27798	154602	rs1126809	0.2537	0.2537	0.2597	0.2476	0.2948	0.2530	0.2527	0.2940	0.2937	0.0410	0.1059	0.2429	0.0003	0.1687	0.1920	0.2948	0.2402	0.0686	0.1771	0.1771	0.1855	0.1683	0.2791	0.1753	0.1746	0.2758	0.2744	0.0499	0.2104	0.1593	0.2389	0.0016	0.1587	0.2109	0.2791	0.1856	0.0621	0.029	0.45756	D	0.08	0.41913	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1.73264e-07	0.58761	P	2.33	0.66821	M	-4.81	0.98183	D	-1.82	0.42763	N	0.158	0.16447	-1.7609	0.00000	T	0.001	0.00467	T	8	0.0029481053	0.00048	T	.	.	.	0.695	0.88960	.	.	.	.	0.863477434631447	0.86311	0.0660713889884	0.07370	0.289043188095	0.08784	T	0.826304	0.95806	D	-0.0145316	0.49629	T	0.35017	0.90322	D	0.0174764102512555	0.00483	T	0.885611	0.61095	D	0.5661954	0.70851	0.34258145	0.59982	0.5661954	0.70852	0.34258145	0.59981	-5.31	0.40042	T	0.5023316321969571	0.57735	0.143	0.31381	B	.	.	4.835361	0.78885	27.0	0.99957571441372317	0.99986	0.98215	0.80611	D	AEFGI	0.951836	0.96675	D	0.68763707772779	0.78821	6.949664	0.655048704856478	0.78985	6.988198	0.999827743249958	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	7.561000	0.81256	8.710000	0.78133	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.625	0.87992	894	0.26265	Tyrosinase copper-binding domain	.	.	.	.	rs1126809	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.159341	0.110169	0.144231	0.105263	0.500000	0.258929	0.234127	0.192308	0.3571	2797.71	20	chr11	89284793	.	G	A	2797.71	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.13;DP=206;ExcessHet=0.4813;FS=0.648;MLEAC=5;MLEAF=0.357;MQ=59.89;MQRankSum=0;QD=16.85;ReadPosRankSum=0.225;SOR=0.613	GT:AD:DP:GQ:PL	0/1:29,16:45:99:420,0,708	3	1	3	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	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	827183	827183	C	T	exonic	WNK1	.	synonymous SNV	WNK1:NM_001184985:exon3:c.C1074T:p.T358T,WNK1:NM_014823:exon3:c.C1074T:p.T358T,WNK1:NM_018979:exon3:c.C1074T:p.T358T,WNK1:NM_213655:exon3:c.C1074T:p.T358T	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	0	1515	7	0	0	7	0.00230491	.	.	.	273982	not_provided|Pseudohypoaldosteronism_type_2C|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A	MedGen:C3661900|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.00139776	0.0013	0.0003	0.0020	0.0002	0	0.0018	0.0011	0.0007	0.0013907	215	154602	rs72648621	0.0017	0.0017	0.0017	0.0016	0.0033	0.0016	0.0016	0.0022	0.0019	0.0003	0.0024	0.0005	0	0.0001	0.0033	0.0019	0.0016	0.0006	0.0017	0.0017	0.0018	0.0016	0.0035	0.0015	0.0015	0.0027	0.0025	0.0004	0	0.0035	0.0006	0	9.42e-05	0.0034	0.0025	0.0033	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.002518	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	994.49	35	chr12	827183	.	C	T	994.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.553;DP=274;ExcessHet=0;FS=0.768;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.652;SOR=0.59	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1005,0,1088	6	0	1	0
chr12	896637	896637	T	C	exonic	WNK1	.	synonymous SNV	WNK1:NM_014823:exon22:c.T5406C:p.L1802L,WNK1:NM_001184985:exon24:c.T6930C:p.L2310L,WNK1:NM_018979:exon24:c.T6150C:p.L2050L,WNK1:NM_213655:exon24:c.T6906C:p.L2302L	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	273981	not_provided|Pseudohypoaldosteronism_type_2C|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A	MedGen:C3661900|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.00139776	0.0012	0.0002	0.0020	0	0	0.0017	0.0011	0.0005	0.0014618	226	154602	rs151331381	0.0016	0.0016	0.0017	0.0016	0.0033	0.0016	0.0016	0.0022	0.0018	0.0003	0.0023	0.0005	0	0.0001	0.0033	0.0019	0.0015	0.0004	0.0016	0.0016	0.0018	0.0015	0.0029	0.0015	0.0014	0.0022	0.0021	0.0004	0	0.0029	0.0006	0	9.617e-05	0.0034	0.0025	0.0034	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	1	0	0	1	0.003021	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.000000	0.07143	641.53	34	chr12	896637	.	T	C	641.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.919;DP=231;ExcessHet=0;FS=1.006;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-0.56;SOR=0.527	GT:AD:DP:GQ:PL	0/1:30,27:57:99:652,0,702	6	0	1	0
chr12	6018369	6018369	T	G	exonic	VWF	.	synonymous SNV	VWF:NM_000552:exon28:c.A5049C:p.A1683A	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	780	740	2	0	744	0.322917	.	.	.	266166	not_provided|not_specified|von_Willebrand_disease_type_2|Hereditary_von_Willebrand_disease|von_Willebrand_disease_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022509	348	154602	rs79275181	0.0541	0.1753	0.0514	0.0568	0.1039	0.0537	0.0535	0.0948	0.0912	0.0354	0.0602	0.0362	0.0427	0.0518	0.1039	0.0556	0.0445	0.0580	0.0156	0.0580	0.0139	0.0174	0.0276	0.0150	0.0148	0.0233	0.0217	0.0133	0.0179	0.0169	0.0164	0.0276	0.0176	0	0.0152	0.0178	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3571	812.73	18	chr12	6018369	.	T	G	812.73	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.411;DP=213;ExcessHet=4.7409;FS=6.291;MLEAC=5;MLEAF=0.357;MQ=55.2;MQRankSum=-5.884;QD=4.32;ReadPosRankSum=1.58;SOR=0.36	GT:AD:DP:GQ:PL	0/1:34,13:47:99:198,0,868	2	0	5	0
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	6936729	6936749	CAGCAGCAGCAGCAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1462_1482del:p.Q496_Q502del,ATN1:NM_001940:exon5:c.1462_1482del:p.Q496_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	129	452	137	68	736	1009	0.231946	.	.	.	905935	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs1183228329	0.1140	0.1129	0.1133	0.1147	0.2024	0.1135	0.1133	0.1928	0.1889	0.0599	0.0711	0.1307	0.0196	0.0770	0.2024	0.1208	0.1141	0.1206	0.0965	0.0952	0.0980	0.0949	0.1252	0.0952	0.0946	0.1187	0.1178	0.0594	0.1881	0.0938	0.1362	0.0278	0.0722	0.2083	0.1209	0.1186	0.1252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	10575.4	39	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	A	10575.4	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.681;DP=399;ExcessHet=0.3476;FS=6.639;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=34.22;ReadPosRankSum=0.839;SOR=0.751	GT:AD:DP:GQ:PL	1/1:0,79:79:99:3479,240,0	5	2	0	0
chr12	15641761	15641761	G	A	exonic	EPS8	.	synonymous SNV	EPS8:NM_004447:exon16:c.C1638T:p.N546N	.	.	.	.	.	.	.	.	.	.	.	491482	EPS8-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0015	0.000199681	0.0020	0.0003	0.0002	0	0.0027	0.0030	0.0033	0.0010	0.0018952	293	154602	rs149455769	0.0014	0.0014	0.0014	0.0014	0.0015	0.0014	0.0014	0.0014	0.0014	0.0002	0.0002	0.0044	0	0.0021	0.0007	0.0015	0.0017	0.0007	0.0012	0.0012	0.0012	0.0012	0.0019	0.0010	0.0010	0.0016	0.0015	0.0002	0	0	0.0043	0	0.0021	0	0.0019	0.0009	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	244.27	27	chr12	15641761	.	G	A	244.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.103;DP=141;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-1.776;SOR=0.74	GT:AD:DP:GQ:PL	0/1:15,13:28:99:254,0,304	5	0	1	1
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	47845054	47845054	C	A	intronic	VDR	.	.	.	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	84	358	570	510	0	1590	0.689506	.	.	.	1242175	Hepatocellular_carcinoma|not_provided|Vitamin_D-dependent_rickets_type_II_with_alopecia|Periodontitis	Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C3661900|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5622	0.515375	0.5187	0.6234	0.3909	0.2778	0.5489	0.5375	0.5256	0.5796	0.50879	78660	154602	rs7975232	0.5254	0.5252	0.5231	0.5277	0.6365	0.5244	0.5240	0.6294	0.6264	0.6365	0.4233	0.5667	0.3056	0.5525	0.6244	0.5274	0.5314	0.5759	0.5491	0.5493	0.5492	0.5489	0.6267	0.5459	0.5446	0.6203	0.6176	0.6267	0.5894	0.5041	0.5828	0.2901	0.5503	0.5548	0.5281	0.5518	0.5587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	1665.97	9	chr12	47845054	.	C	A	1665.97	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-1.02;DP=78;ExcessHet=1.383;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=21.92;ReadPosRankSum=0.386;SOR=0.749	GT:AD:DP:GQ:PL	0/1:8,7:15:99:173,0,239	0	3	3	1
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
chr13	72965328	72965328	A	G	exonic	PIBF1	.	nonsynonymous SNV	PIBF1:NM_006346:exon15:c.A1888G:p.I630V,PIBF1:NM_001349655:exon16:c.A1975G:p.I659V	.	433	954	120	15	0	150	0.0728863	.	.	.	1625324	not_provided|Joubert_syndrome_33	MedGen:C3661900|MONDO:MONDO:0033311,MedGen:C4540389,OMIM:617767	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	.	0.0211	0.0227636	0.0294	0.0043	0.0154	0.0001	0.0150	0.0297	0.0410	0.0741	0.0284214	4394	154602	rs11544631	0.0299	0.0293	0.0279	0.0320	0.0801	0.0297	0.0296	0.0785	0.0778	0.0052	0.0181	0.0534	0.0002	0.0138	0.0725	0.0281	0.0323	0.0801	0.0217	0.0218	0.0217	0.0218	0.0670	0.0211	0.0209	0.0610	0.0586	0.0056	0.1121	0.0216	0.0473	0.0006	0.0153	0.0782	0.0282	0.0241	0.0670	0.17	0.22833	T	0.298	0.42976	T	0.876	0.48154	P	0.927	0.66185	D	0.000019	0.62929	D	0.118519	0.99992	0.51308	D	1.52	0.38360	L	2.22	0.18248	T	-0.52	0.16187	N	0.098	0.18239	-1.1678	0.00583	T	0.029	0.12278	T	10	0.002918452	0.00047	T	.	.	.	0.072	0.21020	.	.	.	.	0.13770529066343418	0.13694	0.0423253043462	0.04561	0.45378190279	0.32461	T	0.015357	0.12895	T	-0.610455	0.00126	T	-0.590473	0.13625	T	0.0385543579617264	0.03430	T	0.626037	0.24205	T	0.06711497	0.14505	0.07295199	0.15797	0.07176528	0.15913	0.07295199	0.15796	-4.3	0.28177	T	0.1953686098761516	0.25771	0.094	0.15070	B	.;.;.	.;.;.	2.022457	0.25704	16.86	0.99822133550549286	0.90502	0.92735	0.56418	D	AEFI	0.406743	0.47911	N	0.42687146605143	0.62904	4.514306	0.455079957116064	0.65044	4.774146	0.99992945366436	0.46280	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.12	5.12	0.69459	3.575000	0.53614	2.945000	0.35685	0.691000	0.84096	1.000000	0.71638	0.974000	0.29927	0.999000	0.91618	1.0:0.0:0.0:0.0	14.731	0.68999	975	0.05339	.;.;.	.	.	.	.	rs11544631	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.077543	0.035354	0.077446	0.067251	0.250000	0.103448	0.088415	0.087121	0.07143	926.46	34	chr13	72965328	.	A	G	926.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.034;DP=258;ExcessHet=0;FS=0.836;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.024;SOR=0.738	GT:AD:DP:GQ:PL	0/1:37,44:81:99:937,0,882	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
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	61740839	61740839	C	T	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon12:c.C1816T:p.P606S,HIF1A:NM_001530:exon12:c.C1744T:p.P582S,HIF1A:NM_181054:exon12:c.C1744T:p.P582S	.	426	797	258	41	0	340	0.175801	.	.	.	2736349	Cholangiocarcinoma|not_provided	Human_Phenotype_Ontology:HP:0030153,MONDO:MONDO:0019087,MeSH:D018281,MedGen:C0206698,Orphanet:70567|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.249	.	0.0877	0.0730831	0.0897	0.0381	0.0636	0.0437	0.0416	0.1068	0.1002	0.1139	0.0896301	13857	154602	rs11549465	0.0973	0.0973	0.0962	0.0983	0.1978	0.0968	0.0967	0.1883	0.1844	0.0355	0.0652	0.1605	0.0484	0.0413	0.1978	0.1014	0.1054	0.1100	0.0781	0.0782	0.0804	0.0757	0.1157	0.0769	0.0764	0.1077	0.1046	0.0361	0.1305	0.0843	0.1509	0.0481	0.0358	0.1599	0.1032	0.0970	0.1157	0.15	0.26300	T	0.107	0.37730	T	0.243	0.36725	B	0.225	0.42306	B	0.000163	0.48594	D	0.218644	0.004354	0.42787	P	0.2	0.09183	N	-1.98	0.85247	D	-3.12	0.67705	D	0.061	0.03502	-0.7937	0.55514	T	0.014	0.05561	T	9	0.002049476	0.00029	T	.	.	.	0.249	0.55752	.	.	.	.	0.2703759875243241	0.26950	0.18754449635	0.21074	0.613483905792	0.54808	T	0.791418	0.94585	D	-0.487373	0.00672	T	-0.386001	0.35020	T	0.0528159558020239	0.05987	T	0.89801	0.64352	D	0.20964694	0.43238	0.16643055	0.38449	0.20964694	0.43238	0.16643055	0.38448	-7.11	0.54832	T	.	.	0.105	0.27373	B	.;.;.;.;.	.;.;.;.;.	2.583508	0.33503	19.36	0.99454245710225975	0.65427	0.89101	0.49367	D	AEFDGBCI	0.388942	0.46836	N	-0.0795620720085574	0.38289	2.240306	0.0864541640548502	0.43865	2.679561	0.999999994130304	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.72	4.82	0.61641	2.789000	0.47504	3.324000	0.37570	0.594000	0.32500	0.799000	0.29708	1.000000	0.68203	0.997000	0.79791	0.1422:0.788:0.0:0.0698	9.682	0.39239	682	0.59757	.;.;.;.;.	FLJ22447|FLJ22447	Lung|Muscle_Skeletal	.	.	rs11549465	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.164653	0.121212	0.160326	0.228070	0.350000	0.232759	0.155488	0.143939	0.07143	1943.44	35	chr14	61740839	.	C	T	1943.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.635;DP=363;ExcessHet=0;FS=5.554;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.668;SOR=0.404	GT:AD:DP:GQ:PL	0/1:95,79:174:99:1954,0,2397	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	92071009	92071009	-	G	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.68_69insC:p.P25Tfs*24,ATXN3:NM_001164774:exon3:c.233_234insC:p.P80Tfs*24,ATXN3:NM_001164777:exon3:c.113_114insC:p.P40Tfs*24,ATXN3:NM_001164776:exon4:c.278_279insC:p.P95Tfs*24,ATXN3:NM_001164778:exon6:c.431_432insC:p.P146Tfs*24,ATXN3:NM_001164779:exon6:c.553_554insC:p.G185Afs*12,ATXN3:NM_001164780:exon7:c.379_380insC:p.G127Afs*12,ATXN3:NM_001127697:exon8:c.763_764insC:p.G255Afs*12,ATXN3:NM_001164781:exon8:c.706_707insC:p.G236Afs*12,ATXN3:NM_001127696:exon9:c.871_872insC:p.G291Afs*12,ATXN3:NM_030660:exon9:c.751_752insC:p.G251Afs*12,ATXN3:NM_004993:exon10:c.916_917insC:p.G306Afs*12	Machado-Joseph disease, Autosomal dominant	98	926	380	118	0	616	0.249595	.	.	.	390136	ATXN3-related_disorder|Azorean_disease|not_specified|not_provided	.|MONDO:MONDO:0007182,MedGen:C0024408,OMIM:109150,Orphanet:98757|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3624	0.1685	0.3080	0.2350	0.3289	0.3820	0.3723	0.5076	0.0120639	314	26028	rs763461489	0.3602	0.2726	0.3598	0.3606	0.4269	0.3591	0.3586	0.4211	0.4187	0.2335	0.2356	0.4259	0.4269	0.3289	0.3968	0.3614	0.3556	0.3795	0.4786	0.4687	0.4802	0.4770	0.5397	0.4742	0.4724	0.5165	0.5072	0.4754	0.5068	0.4371	0.5341	0.4620	0.4534	0.4936	0.4840	0.4802	0.5397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2540.84	43	chr14	92071009	.	C	CG	2540.84	.	AC=2;AF=0.167;AN=12;DP=318;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.19;SOR=1.467	GT:AD:DP:GQ:PL	1/1:0,63:63:99:2559,189,0	5	1	0	1
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCA:p.G23Afs*63,ATXN3:NM_001164774:exon3:c.232_233insCAGCAGCAGCAGCAGCA:p.G78Afs*63,ATXN3:NM_001164777:exon3:c.112_113insCAGCAGCAGCAGCAGCA:p.G38Afs*63,ATXN3:NM_001164776:exon4:c.277_278insCAGCAGCAGCAGCAGCA:p.G93Afs*63,ATXN3:NM_001164778:exon6:c.430_431insCAGCAGCAGCAGCAGCA:p.G144Afs*63,ATXN3:NM_001164779:exon6:c.552_553insCAGCAGCAGCAGCAGCA:p.G185Qfs*31,ATXN3:NM_001164780:exon7:c.378_379insCAGCAGCAGCAGCAGCA:p.G127Qfs*31,ATXN3:NM_001127697:exon8:c.762_763insCAGCAGCAGCAGCAGCA:p.G255Qfs*31,ATXN3:NM_001164781:exon8:c.705_706insCAGCAGCAGCAGCAGCA:p.G236Qfs*31,ATXN3:NM_001127696:exon9:c.870_871insCAGCAGCAGCAGCAGCA:p.G291Qfs*31,ATXN3:NM_030660:exon9:c.750_751insCAGCAGCAGCAGCAGCA:p.G251Qfs*31,ATXN3:NM_004993:exon10:c.915_916insCAGCAGCAGCAGCAGCA:p.G306Qfs*31	Machado-Joseph disease, Autosomal dominant	2	38	11	3	172	189	0.182796	.	.	.	1038299	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005175	80	154602	rs763541221	0.0633	0.0652	0.0641	0.0625	0.0704	0.0630	0.0628	0.0699	0.0698	0.0104	0.0224	0.0489	0.0433	0.0343	0.0394	0.0704	0.0538	0.0546	0.0404	0.0391	0.0421	0.0386	0.0581	0.0395	0.0391	0.0566	0.0560	0.0119	0.0580	0.0269	0.0522	0.0348	0.0360	0.0355	0.0581	0.0459	0.0527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7249.72	30	chr14	92071010	.	C	CTGCTGCTGCTGCTGCTG	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	1/0:0,14:26:99:.:.:2467,598,443:.	6	0	1	0
chr15	34791307	34791307	-	CA	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322315	Left_ventricular_noncompaction_cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_restrictive_cardiomyopathy|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided|Atrial_septal_defect	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210,Orphanet:217635|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:CN239310|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020747	54	26028	rs767357797	0.0537	0.0905	0.0502	0.0571	0.0877	0.0533	0.0532	0.0859	0.0852	0.0708	0.0676	0.0639	0.0823	0.0800	0.0619	0.0460	0.0657	0.0877	0.1194	0.1243	0.1202	0.1185	0.1444	0.1179	0.1173	0.1412	0.1399	0.1444	0.0293	0.0882	0.0608	0.1144	0.1094	0.0899	0.1172	0.1079	0.1395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7634.8	29	chr15	34791307	.	T	TCA	7634.8	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.58;DP=701;ExcessHet=2.5225;FS=3.743;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=21.21;ReadPosRankSum=0.754;SOR=0.94	GT:AD:DP:GQ:PL	0/1:39,24:74:99:405,0,1023	4	0	3	0
chr15	50586433	50586433	G	A	exonic	TRPM7	.	nonsynonymous SNV	TRPM7:NM_001301212:exon28:c.C4445T:p.T1482I,TRPM7:NM_017672:exon28:c.C4445T:p.T1482I	.	433	876	190	23	0	236	0.118712	.	.	.	19846	Amyotrophic_lateral_sclerosis-parkinsonism/dementia_complex_1,_susceptibility_to|TRPM7-related_disorder|Juvenile_amyotrophic_lateral_sclerosis|not_provided	.|.|MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	.	0.0797	0.0758786	0.0870	0.0202	0.0527	0.0765	0.0530	0.0998	0.0926	0.1180	0.0873598	13506	154602	rs8042919	0.1013	0.1018	0.1007	0.1018	0.1383	0.1008	0.1007	0.1352	0.1340	0.0163	0.0587	0.0692	0.1383	0.0548	0.0875	0.1069	0.0999	0.1075	0.0751	0.0751	0.0765	0.0737	0.1220	0.0740	0.0735	0.1139	0.1107	0.0215	0.0768	0.0644	0.0793	0.0980	0.0531	0.0952	0.1082	0.0804	0.1220	0.247	0.39575	T	0.121	0.42436	T	0.186	0.29254	B	0.098	0.30479	B	0.953328	0.08272	N	0.978397	0.717259	0.29956	P	0.895	0.22405	L	0.53	0.55266	T	-1.36	0.37375	N	0.014	0.00445	-1.0529	0.13601	T	0.002	0.00738	T	9	0.0014967024	0.00017	T	.	.	.	0.037	0.09474	.	.	.	.	0.3374016641413803	0.33653	0.130681104142	0.14746	0.357630670071	0.19040	T	0.195563	0.55168	T	-0.662195	0.00061	T	-0.580153	0.14532	T	0.00958415804392686	0.00124	T	0.585341	0.21547	T	0.020128323	0.00561	0.032518517	0.02001	0.020128323	0.00560	0.032518517	0.02001	-4.246	0.27412	T	.	.	0.126	0.34711	B	.;.;.	.;.;.	2.320220	0.29709	18.21	0.98708867514803611	0.45025	0.74352	0.36372	D	AEFBI	0.079394	0.16036	N	-0.34388404852293	0.27498	1.509134	-0.227690699432226	0.30549	1.720951	0.0124718101751214	0.12332	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.25	2.19	0.26890	1.985000	0.40289	2.360000	0.32366	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.1071:0.1809:0.5253:0.1866	2.709	0.04851	544	0.72685	.;.;.	SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|TRPM7|SPPL2A|RP11-562A8.4|SPPL2A|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|SPPL2A|TNFAIP8L3|SPPL2A|SPPL2A|SPPL2A|GLDN|TRPM7|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|AP4E1|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|RP11-562A8.5|USP50|SPPL2A|SPPL2A|AP4E1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Whole_Blood	SPPL2A|RP11-562A8.5|RP11-562A8.4|USP50	Cells_Cultured_fibroblasts|Testis|Testis|Testis	rs8042919	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.087702	0.071429	0.084239	0.070175	0.050000	0.120690	0.097561	0.090909	0.07143	1022.53	35	chr15	50586433	.	G	A	1022.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.29;DP=323;ExcessHet=0;FS=0.703;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=0.357;SOR=0.799	GT:AD:DP:GQ:PL	0/1:73,45:118:99:1033,0,1690	6	0	1	0
chr15	59256276	59256276	C	T	intronic	MYO1E	.	.	.	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	26	0	7	1489	0	2985	1	0	0	.	971023	not_specified|not_provided|Focal_segmental_glomerulosclerosis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9775	0.97504	0.9939	0.9331	0.9973	1	1	0.9998	0.9967	0.9999	0.950408	146935	154602	rs4508371	0.9981	0.9980	0.9978	0.9983	1.0000	0.9967	0.9961	0.9983	0.9976	0.9313	0.9973	1.0000	1.0000	1.0000	0.9970	0.9999	0.9960	0.9999	0.9812	0.9812	0.9812	0.9813	1.0000	0.9771	0.9753	0.9934	0.9908	0.9344	1.0000	0.9945	1.0000	1.0000	1.0000	0.9864	0.9997	0.9887	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	16186.6	59	chr15	59256276	.	C	T	16186.6	.	AC=14;AF=1;AN=14;BaseQRankSum=2.23;DP=606;ExcessHet=0;FS=0;MLEAC=14;MLEAF=1;MQ=60;MQRankSum=0;QD=27.34;ReadPosRankSum=1.07;SOR=0.309	GT:AD:DP:GQ:PL	1/1:1,114:115:99:3151,333,0	0	7	0	0
chr15	68207979	68207979	-	AC	UTR3	CLN6	NM_017882:c.*160_*161insGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	323238	not_provided|Neuronal_Ceroid-Lipofuscinosis,_Recessive	MedGen:C3661900|MedGen:CN239323	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.334465	.	.	.	.	.	.	.	.	0.0030352	79	26028	rs138882836	0.3617	0.3201	0.3572	0.3657	0.5137	0.3603	0.3597	0.5067	0.5038	0.1449	0.3834	0.3623	0.5137	0.3802	0.3685	0.3407	0.3479	0.4469	0.3749	0.3760	0.3645	0.3859	0.7752	0.3723	0.3712	0.7549	0.7466	0.1625	0.5408	0.4370	0.4553	0.7752	0.4773	0.4041	0.4204	0.3920	0.6213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	648.83	5	chr15	68207979	.	G	GAC	648.83	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.04;DP=23;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=32.44;ReadPosRankSum=-1.645;SOR=1.501	GT:AD:DP:GQ:PL	1/1:0,3:3:9:106,9,0	2	1	2	2
chr15	78513681	78513681	T	C	intronic	HYKK	.	.	.	.	1079	356	30	57	0	144	0.168224	.	.	YES	3495312	Chronic_obstructive_pulmonary_disease	Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	0.188898	.	.	.	.	.	.	.	.	0.275434	7169	26028	rs8034191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2722	0.2723	0.2756	0.2686	0.3510	0.2700	0.2691	0.3473	0.3458	0.1664	0.4068	0.2323	0.3453	0.0289	0.3321	0.4150	0.3510	0.2875	0.2353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	146.01	2	chr15	78513681	.	T	C	146.01	.	AC=3;AF=0.375;AN=8;BaseQRankSum=1.15;DP=8;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=24.34;ReadPosRankSum=1.15;SOR=0.368	GT:AD:DP:GQ:PL	0/1:1,3:4:17:106,0,17	2	1	1	3
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	2297309	2297309	G	A	intronic	ABCA3	.	.	.	Surfactant metabolism dysfunction, pulmonary, 3, Autosomal recessive	21	1492	9	0	0	9	0.00300702	.	.	.	1641785	Hereditary_pulmonary_alveolar_proteinosis|not_provided	MONDO:MONDO:0012580,MedGen:C3711368,OMIM:PS265120,Orphanet:264675|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.0105831	0.0059	0.0005	0.0003	0	0	3.091e-05	0.0023	0.0418	0.0050905	787	154602	rs144728317	0.0024	0.0024	0.0013	0.0035	0.0380	0.0023	0.0023	0.0369	0.0364	0.0003	0.0001	0	2.519e-05	0	0.0005	3.778e-05	0.0022	0.0380	0.0014	0.0015	0.0008	0.0021	0.0421	0.0013	0.0012	0.0374	0.0355	0.0003	0	6.569e-05	0	0.0002	0	0	2.943e-05	0.0009	0.0421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	625.83	24	chr16	2297309	.	G	A	625.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.551;DP=169;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.35;ReadPosRankSum=-0.425;SOR=0.504	GT:AD:DP:GQ:PL	0/1:7,21:28:99:636,0,159	6	0	1	0
chr16	8764843	8764843	-	CACA	intronic	ABAT	.	.	.	GABA-transaminase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	344198	Gamma-aminobutyric_acid_transaminase_deficiency	MONDO:MONDO:0013166,MedGen:C0342708,OMIM:613163,Orphanet:2066	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0321	0.0079	0.0116	0.0557	0.0468	0.0213	0.0389	0.0855	0.0004995	13	26028	rs148949594	0.0275	0.0289	0.0252	0.0297	0.0897	0.0272	0.0271	0.0880	0.0873	0.0065	0.0148	0.0144	0.0565	0.0499	0.0234	0.0217	0.0303	0.0897	0.0263	0.0263	0.0224	0.0305	0.1041	0.0256	0.0254	0.0965	0.0935	0.0078	0.0177	0.0244	0.0183	0.0661	0.0613	0.0068	0.0249	0.0258	0.1041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2429.96	33	chr16	8764843	.	G	GCACA	2429.96	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.03;DP=249;ExcessHet=2.3007;FS=1.255;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0;SOR=0.573	GT:AD:DP:GQ:PL	0/1:2,15:36:99:1145,503,537	5	0	1	1
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	15725135	15725135	A	-	UTR3	NDE1	NM_001143979:c.*884delA;NM_017668:c.*884delA	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	500	719	142	6	155	309	0.0967337	.	.	.	333972	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1305880573	0.1861	0.1425	0.1870	0.1852	0.2867	0.1849	0.1844	0.2782	0.2747	0.2867	0.2002	0.1976	0.2168	0.2046	0.2114	0.1792	0.1980	0.1522	0.0833	0.0835	0.0830	0.0835	0.2302	0.0820	0.0814	0.2261	0.2244	0.2302	0	0.0405	0.0239	0.0395	0.0450	0.0187	0.0183	0.0628	0.0215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	573.07	72	chr16	15725134	.	TA	T	573.07	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.847;DP=587;ExcessHet=8.2628;FS=0.602;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=0.861;SOR=0.754	GT:AD:DP:GQ:PL	0/1:70,14:91:66:66,0,1580	5	0	2	0
chr16	23445970	23445970	A	-	intronic	COG7	.	.	.	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	334369	not_provided|Congenital_disorder_of_glycosylation|COG7_congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3899	0.3803	0.3566	0.3682	0.4249	0.3932	0.3811	0.3995	0.0002587	40	154602	rs71379679	0.3540	0.3620	0.3514	0.3567	0.3851	0.3531	0.3528	0.3797	0.3774	0.3470	0.3424	0.3544	0.3851	0.3561	0.3445	0.3513	0.3570	0.3803	0.2121	0.2083	0.2079	0.2167	0.3049	0.2100	0.2092	0.2916	0.2862	0.2187	0.1708	0.1807	0.1672	0.3049	0.2926	0.1352	0.1984	0.2037	0.2610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	709.29	10	chr16	23445969	.	TA	T	709.29	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.553;DP=179;ExcessHet=11.5949;FS=2.736;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=6.82;ReadPosRankSum=0.092;SOR=1.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,15:22:30:.:.:327,0,30:.	0	0	6	1
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	56511263	56511263	T	C	exonic	BBS2	.	nonsynonymous SNV	BBS2:NM_001377456:exon3:c.A367G:p.I123V,BBS2:NM_031885:exon3:c.A367G:p.I123V	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive	7	1085	379	51	0	481	0.181441	.	.	YES	255825	Bardet-Biedl_syndrome|not_specified|Retinitis_pigmentosa_74|Bardet-Biedl_syndrome_1|not_provided|Bardet-Biedl_syndrome_2|Retinal_dystrophy	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MONDO:MONDO:0014692,MedGen:C4225281,OMIM:616562,Orphanet:791|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:C3661900|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.169	.	0.1954	0.263578	0.2092	0.2292	0.3062	0.4101	0.1777	0.1703	0.2080	0.1939	0.205702	31802	154602	rs11373	0.1869	0.1869	0.1878	0.1860	0.4109	0.1863	0.1861	0.4056	0.4034	0.2297	0.2862	0.2119	0.4109	0.1735	0.1505	0.1732	0.1982	0.1882	0.2072	0.2074	0.2067	0.2076	0.4000	0.2052	0.2045	0.3857	0.3798	0.2319	0.1020	0.2418	0.2044	0.4000	0.1837	0.1361	0.1761	0.2111	0.1922	0.562	0.06341	T	0.544	0.11829	T	.	.	.	.	.	.	0.006774	0.31811	N	0.376395	0.726341	0.29873	P	.	.	.	-1.58	0.81987	D	-0.24	0.11008	N	0.056	0.06454	-1.0141	0.25625	T	0.000	0.00011	T	9	0.0039009154	0.00074	T	.	.	.	0.169	0.43123	.	.	.	.	0.40657062324920235	0.40573	0.20816477634	0.23283	0.361940145493	0.19669	T	0.222663	0.58657	T	-0.576094	0.00204	T	-0.456476	0.26983	T	0.00215051843252122	0.00022	T	0.759724	0.38410	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00647	B	.;.	.;.	0.874631	0.12478	9.008	0.60179440470861367	0.06401	0.81298	0.40731	D	AEFBI	0.120463	0.23466	N	-0.808476354663507	0.13093	0.6426372	-0.64647875390651	0.18306	0.9772973	0.744928693620984	0.23270	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.9	0.542	0.16365	0.398000	0.20624	-0.822000	0.07291	0.654000	0.53741	0.997000	0.40164	0.001000	0.17328	0.854000	0.40426	0.0:0.3239:0.1315:0.5446	5.865	0.18019	453	0.79178	Ciliary BBSome complex subunit 2, N-terminal;.	OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT1E|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT4|OGFOD1|AMFR|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|OGFOD1	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Prostate|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|Spleen|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	BBS2|NUDT21|BBS2|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2	Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Transverse|Heart_Left_Ventricle|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs11373	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.187311	0.237374	0.202446	0.140351	0.250000	0.172414	0.149390	0.200758	0.2857	2629.02	53	chr16	56511263	.	T	C	2629.02	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.206;DP=321;ExcessHet=0.0921;FS=2.752;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=0.076;SOR=0.57	GT:AD:DP:GQ:PL	0/1:47,68:115:99:1603,0,1058	4	1	2	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	86513394	86513394	-	T	UTR3	FOXF1	NM_001451:c.*309_*310insT	.	.	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	1165	284	20	53	0	126	0.181556	.	.	.	336349	Alveolar_capillary_dysplasia_with_pulmonary_venous_misalignment|not_provided	MONDO:MONDO:0009934,MedGen:C2960310,OMIM:265380,Orphanet:210122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18799	4893	26028	rs11392376	0.3517	0.2949	0.3418	0.3609	0.7850	0.3497	0.3489	0.7685	0.7618	0.7850	0.3611	0.3453	0.1825	0.3261	0.4485	0.3177	0.3568	0.4954	0.4602	0.4615	0.4635	0.4567	0.7838	0.4573	0.4561	0.7766	0.7737	0.7838	0.2923	0.3829	0.3420	0.1934	0.3376	0.5272	0.3267	0.4238	0.4940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	79.47	.	chr16	86513394	.	C	CT	79.47	.	AC=2;AF=0.25;AN=8;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=26.25;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:86513394_C_CT:90,6,0:86513394	3	1	0	3
chr16	88836270	88836270	G	A	intronic	GALNS	.	.	.	Mucopolysaccharidosis IVA, Autosomal recessive	4	1517	1	0	0	1	0.000329489	0.0184	0.298	YES	1036303	Mucopolysaccharidosis,_MPS-IV-A	MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000,Orphanet:309297,Orphanet:582	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0009	0	0	0	0	0	0.0075	0.0060	0.0006404	99	154602	rs549597016	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	0	0	0	0	0.0002	2.702e-06	0.0003	0.0054	0.0001	0.0001	6.422e-05	0.0002	0.0037	8.657e-05	7.25e-05	0.0024	0.0020	4.81e-05	0	0	0	0	0	0	0	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1336.27	34	chr16	88836270	.	G	A	1336.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.99;DP=319;ExcessHet=0;FS=3.711;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.906;SOR=1.067	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1346,0,1275	5	0	1	1
chr16	89816740	89816740	-	GGCCTTGCGTCGT	upstream	FANCA	dist=93	.	.	Fanconi anemia, complementation group A, Autosomal recessive	50	1018	318	136	0	590	0.224676	.	.	.	208324	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.522963	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs11275235	0.2739	0.2644	0.2665	0.2809	0.9576	0.2728	0.2723	0.9471	0.9428	0.4104	0.4624	0.1766	0.9576	0.3603	0.2057	0.2121	0.3030	0.4074	0.3957	0.3973	0.3848	0.4071	0.9688	0.3931	0.3920	0.9463	0.9370	0.4731	0.2539	0.4650	0.1948	0.9688	0.3791	0.1747	0.3009	0.3658	0.4746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	367.95	7	chr16	89816740	.	A	AGGCCTTGCGTCGT	367.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.967;DP=41;ExcessHet=0.1336;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=0.608;SOR=1.942	GT:AD:DP:GQ:PL	0/1:4,6:10:99:240,0,150	3	1	2	1
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	.	.	.	.	.	.	.	1.0000	0.938	YES	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	388.93	57	chr17	3648932	.	G	C	388.93	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.681;DP=502;ExcessHet=6.1542;FS=343.065;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=0.438;SOR=9.139	GT:AD:DP:GQ:PL	0/1:57,30:102:97:97,0,802	1	0	5	1
chr17	17237171	17237171	C	G	upstream	FLCN	dist=3	.	.	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	1308	79	25	110	0	245	0.60794	.	.	.	337331	Nonpapillary_renal_cell_carcinoma|Birt-Hogg-Dube_syndrome_1|Colorectal_cancer|Familial_spontaneous_pneumothorax|FLCN-related_disorder|Birt-Hogg-Dube_syndrome|not_provided	MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|.|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.743211	.	.	.	.	.	.	.	.	0.732019	19053	26028	rs1736209	0.8036	0.0332	0.8333	0.7812	1.0000	0.6172	0.5514	0.5955	0.5219	.	.	.	1.0000	0.7500	1.0000	0.8095	0.5000	1.0000	0.7274	0.7275	0.7224	0.7327	0.8462	0.7238	0.7223	0.8252	0.8166	0.6277	0.8495	0.7371	0.7353	0.8462	0.8738	0.6463	0.7531	0.7110	0.7266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	150.31	.	chr17	17237171	.	C	G	150.31	.	AC=4;AF=1;AN=4;DP=6;ExcessHet=0;FS=0;MLEAC=5;MLEAF=1;MQ=60;QD=30.06;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,3:3:9:107,9,0	0	2	0	5
chr17	18130817	18130817	-	GTGTGT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327557	not_specified|not_provided|Hearing_loss,_autosomal_recessive	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015368	40	26028	rs1491181087	0.0309	0.0429	0.0293	0.0324	0.0457	0.0306	0.0305	0.0438	0.0430	0.0325	0.0356	0.0252	0.0457	0.0557	0.0313	0.0273	0.0398	0.0422	0.1218	0.1291	0.1239	0.1193	0.1398	0.1200	0.1192	0.1370	0.1359	0.1064	0.0505	0.1128	0.0768	0.0783	0.1064	0.1056	0.1398	0.1146	0.1030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3134.63	20	chr17	18130817	.	A	AGTGTGT	3134.63	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.39;DP=513;ExcessHet=0;FS=5.575;MLEAC=3;MLEAF=0.25;MQ=59.99;MQRankSum=0;QD=34.83;ReadPosRankSum=0.047;SOR=2.262	GT:AD:DP:GQ:PL	1/0:1,5:12:99:652,140,106	3	0	3	1
chr17	21300880	21300880	C	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon5:c.C199T:p.R67W,MAP2K3:NM_145109:exon5:c.C286T:p.R96W,MAP2K3:NM_001316332:exon6:c.C199T:p.R67W	.	430	38	1047	7	0	1061	0.933157	.	.	.	1770503	not_specified|MAP2K3-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.375	.	.	.	0.4998	0.4999	0.4997	0.4986	0.5	0.4999	0.5	0.4999	0.0238677	3690	154602	rs56216806	0.4983	0.4983	0.4982	0.4985	0.4998	0.4974	0.4970	0.4969	0.4964	0.4981	0.4998	0.4992	0.4996	0.4998	0.4996	0.4980	0.4987	0.4994	0.5000	0.5000	0.5000	0.5000	0.5000	0.4970	0.4958	0.4955	0.4937	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.0	0.91255	D	0.043	0.56640	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999999	0.58761	D	2.88	0.83451	M	-0.23	0.66652	T	-4.91	0.82141	D	0.699	0.70351	-0.9444	0.41911	T	0.000	0.00011	T	10	0.0043037534	0.00087	T	.	.	.	0.375	0.69358	.	.	.	.	0.7188625825101859	0.71829	0.606269731864	0.55478	0.820443630219	0.85095	D	0.403427	0.76018	T	0.346235	0.86252	D	0.259566	0.86071	D	0.0378888073466841	0.03313	T	0.914509	0.70203	D	0.8805352	0.89711	0.8318533	0.90306	0.8805352	0.89712	0.8318533	0.90306	-15.158	0.96694	D	.	.	0.905	0.83091	P	.;.;.;.;.	.;.;.;.;.	5.775915	0.93501	33	0.98723007320009115	0.45230	0.81548	0.40929	D	AEFGBCI	0.787610	0.71734	D	0.664275873630775	0.77296	6.647485	0.610880277044446	0.75730	6.36224	0.999999998268304	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.716000	0.61607	5.995000	0.52393	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1566:0.8434:0.0:0.0	13.451	0.60626	824	0.40336	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.497986	0.494949	0.501359	0.497076	0.500000	0.500000	0.493902	0.500000	0.5	21752.1	153	chr17	21300880	.	C	T	21752.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.14;DP=1325;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-0.235;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,111:271:99:0|1:21300875_G_T:4135,0,6291:21300875	0	0	7	0
chr17	41819452	41819452	G	T	intronic	FKBP10	.	.	.	Bruck syndrome 1, Autosomal recessive;Osteogenesis imperfecta, type XI, Autosomal recessive	1	1394	119	8	0	135	0.0461854	.	.	YES	188883	FKBP10-related_disorder|Osteogenesis_imperfecta_type_11|not_provided	.|MONDO:MONDO:0012592,MedGen:C3151218,OMIM:610968,Orphanet:666|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00539137	.	.	.	.	.	.	.	.	0.0023027	356	154602	rs141387386	0.0125	0.0125	0.0121	0.0129	0.0361	0.0124	0.0123	0.0320	0.0305	0.0015	0.0047	0.0373	0	0.0097	0.0361	0.0127	0.0146	0.0158	0.0096	0.0096	0.0100	0.0092	0.0148	0.0092	0.0090	0.0140	0.0137	0.0018	0	0.0041	0.0375	0.0004	0.0079	0.0306	0.0148	0.0119	0.0131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1438.45	34	chr17	41819452	.	G	T	1438.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.428;DP=291;ExcessHet=0;FS=3.637;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.587;SOR=0.426	GT:AD:DP:GQ:PL	0/1:46,60:106:99:1449,0,1097	6	0	1	0
chr17	75516562	75516562	-	GGAGCC	exonic	TSEN54	.	nonframeshift insertion	TSEN54:NM_207346:exon1:c.2_3insGGAGCC:p.P7_A8insEP	Pontocerebellar hypoplasia type 2A, Autosomal recessive;Pontocerebellar hypoplasia type 4, Autosomal recessive	263	1137	84	38	0	160	0.0657354	.	.	.	102567	not_provided|Pontocerebellar_hypoplasia_type_4|not_specified|Pontoneocerebellar_hypoplasia	MedGen:C3661900|MONDO:MONDO:0009166,MedGen:C1856974,OMIM:225753,Orphanet:166063|MedGen:CN169374|MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0591054	0	.	.	.	.	.	.	.	0.0006531	17	26028	rs1329838192	0.0647	0.0463	0.0650	0.0644	0.0998	0.0643	0.0641	0.0895	0.0855	0.0861	0.0613	0.0536	0.0005	0.0648	0.0998	0.0651	0.0667	0.0784	0.0695	0.0693	0.0700	0.0690	0.0835	0.0684	0.0679	0.0801	0.0792	0.0824	0.0749	0.0635	0.0645	0.0008	0.0660	0.0753	0.0679	0.0689	0.0835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	102.22	6	chr17	75516562	.	T	TGGAGCC	102.22	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.272;DP=39;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-1.029;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:99:0|1:75516562_T_TGGAGCC:111,0,190:75516562	4	0	1	2
chr17	75843245	75843245	C	T	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon3:c.G175A:p.A59T	Hemophagocytic lymphohistiocytosis, familial, 3	1	1336	170	15	0	200	0.0696379	.	.	YES	256450	not_specified|Autoinflammatory_syndrome|Familial_hemophagocytic_lymphohistiocytosis_3	MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	.	0.0161	0.0155751	0.0159	0.0137	0.0179	0.0005	0.0019	0.0182	0.0284	0.0196	0.0154073	2382	154602	rs9904366	0.0141	0.0141	0.0133	0.0148	0.1318	0.0139	0.0139	0.1240	0.1209	0.0168	0.0152	0.0625	5.038e-05	0.0015	0.1318	0.0124	0.0204	0.0206	0.0145	0.0145	0.0150	0.0140	0.0224	0.0140	0.0138	0.0190	0.0177	0.0129	0.0230	0.0164	0.0735	0.0006	0.0008	0.1122	0.0136	0.0294	0.0224	0.041	0.41915	D	0.349	0.18732	T	0.005	0.12996	B	0.002	0.06944	B	0.032492	0.25022	N	0.382752	0.648271	0.30556	N	1.7	0.43825	L	-0.53	0.79072	T	-1.57	0.40468	N	0.079	0.05414	-0.8373	0.52826	T	0.095	0.35924	T	10	0.0044733584	0.00092	T	.	.	.	0.075	0.21907	.	.	.	.	0.27349341922199	0.27262	0.0954696783564	0.10785	0.415600240231	0.27230	T	0.274639	0.64714	T	-0.518305	0.00450	T	-0.50103	0.22241	T	0.00818269309861062	0.00098	T	0.726827	0.37500	T	0.055480037	0.10788	0.1159988	0.28004	0.071086764	0.15709	0.11007209	0.26536	-7.332	0.56422	T	0.4515954250924326	0.53531	0.130	0.34819	B	.;.;.;.;.	.;.;.;.;.	2.890299	0.38275	20.7	0.99666906948177392	0.78330	0.73832	0.36113	D	AEFDBHCIJ	0.230731	0.35406	N	-0.355012734322899	0.27089	1.483451	-0.240752692367709	0.30090	1.691322	0.999999997976585	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.478664	0.07449	1	0.655142	0.61905	0	.	.	4.86	3.89	0.44098	1.873000	0.39195	3.220000	0.36848	-0.190000	0.09434	1.000000	0.71638	0.998000	0.33993	0.561000	0.30436	0.0:0.9145:0.0:0.0855	11.340	0.48768	929	0.16858	.;.;.;.;.	ACOX1|CDK3|WBP2	Adrenal_Gland|Cells_Cultured_fibroblasts|Esophagus_Mucosa	.	.	rs9904366	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.120829	0.136364	0.139946	0.233918	0.100000	0.129310	0.068323	0.022727	0.07143	1994.44	33	chr17	75843245	.	C	T	1994.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.709;DP=494;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.59;SOR=0.692	GT:AD:DP:GQ:PL	0/1:75,83:158:99:2005,0,1644	6	0	1	0
chr17	80184196	80184196	G	A	exonic	CARD14	.	synonymous SNV	CARD14:NM_001257970:exon4:c.G633A:p.E211E,CARD14:NM_024110:exon4:c.G633A:p.E211E,CARD14:NM_001366385:exon7:c.G633A:p.E211E	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	0	505	725	292	0	1309	0.564467	.	.	.	390302	not_provided|Pityriasis_rubra_pilaris|Psoriasis_2|not_specified	MedGen:C3661900|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3867	0.347045	0.4547	0.4591	0.4132	0.3050	0.5434	0.4586	0.4259	0.4751	0.27294	42197	154602	rs4889990	0.3755	0.3729	0.3740	0.3771	0.4346	0.3747	0.3743	0.4308	0.4292	0.4143	0.2620	0.3677	0.2342	0.3867	0.4186	0.3783	0.3740	0.4346	0.3784	0.3786	0.3796	0.3771	0.4262	0.3758	0.3747	0.4112	0.4091	0.4164	0.3315	0.3063	0.3686	0.2088	0.3755	0.4150	0.3826	0.3685	0.4262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0.432990	0.461957	0.414127	0.444118	0.550000	0.500000	0.412500	0.418605	0.5	12118.1	101	chr17	80184196	.	G	A	12118.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.602;DP=792;ExcessHet=0.3696;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=-0.999;SOR=0.64	GT:AD:DP:GQ:PL	0/1:106,77:183:99:1915,0,2710	2	2	3	0
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	6	48	368	1100	0	2568	0.963964	.	.	.	1182690	not_provided|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	16208.4	64	chr17	80184264	.	G	A	16208.4	.	AC=13;AF=0.929;AN=14;BaseQRankSum=0.518;DP=610;ExcessHet=0;FS=0;MLEAC=13;MLEAF=0.929;MQ=60;MQRankSum=0;QD=27.52;ReadPosRankSum=-0.566;SOR=0.776	GT:AD:DP:GQ:PL	0/1:68,44:112:99:1117,0,1760	0	6	1	0
chr17	80202434	80202434	T	A	UTR3	CARD14	NM_001257970:c.*10T>A	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	3	581	641	245	52	1183	0.49324	.	.	.	390303	not_specified|Psoriasis_2|Pityriasis_rubra_pilaris|not_provided	MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4160	0.35623	0.4195	0.2494	0.2489	0.4706	0.4337	0.4886	0.4391	0.3357	0.411004	63542	154602	rs8069255	0.4789	0.4785	0.4821	0.4756	0.5504	0.4779	0.4775	0.5443	0.5418	0.2463	0.2746	0.4213	0.5504	0.4314	0.4130	0.5079	0.4544	0.3360	0.4042	0.4042	0.4084	0.3999	0.5012	0.4015	0.4004	0.4967	0.4949	0.2537	0.7039	0.3372	0.4129	0.4998	0.4307	0.3946	0.5012	0.4019	0.3226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	5587.69	63	chr17	80202434	.	T	A	5587.69	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.605;DP=413;ExcessHet=8.2628;FS=3.425;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.501;SOR=0.535	GT:AD:DP:GQ:PL	0/1:28,39:67:99:1102,0,716	1	0	6	0
chr17	80205094	80205094	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_024110:exon18:c.C2458T:p.R820W,CARD14:NM_001366385:exon21:c.C2458T:p.R820W	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	50	677	568	227	0	1022	0.430135	.	.	YES	390229	Autoinflammatory_syndrome|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	.	0.4093	0.353035	0.4244	0.2458	0.2536	0.4728	0.4509	0.4913	0.4363	0.3466	0.416469	64387	154602	rs11652075	0.4774	0.4773	0.4804	0.4744	0.5465	0.4765	0.4761	0.5404	0.5379	0.2319	0.2729	0.4216	0.5465	0.4308	0.4053	0.5063	0.4514	0.3424	0.3995	0.3997	0.4035	0.3954	0.4991	0.3969	0.3958	0.4946	0.4928	0.2409	0.7044	0.3346	0.4127	0.4952	0.4305	0.3844	0.4991	0.4020	0.3313	0.004	0.65419	D	0.035	0.52389	D	0.912	0.50421	P	0.17	0.35299	B	0.044886	0.23592	N	0.424901	0.99932	0.21372	P	1.04	0.26193	L	3.41	0.05574	T	-3.87	0.72594	D	0.111	0.10626	-0.9523	0.40573	T	0.000	0.00011	T	9	0.00018051267	0.00010	T	.	.	.	0.108	0.30607	.	.	.	.	0.6907763373857173	0.69017	0.3656648137	0.38159	0.328153610229	0.14655	T	0.159702	0.50324	T	-0.676618	0.00050	T	-0.600871	0.12738	T	0.0284327208824887	0.01751	T	0.822018	0.48145	T	0.073126465	0.16318	0.09188487	0.21627	0.08949082	0.20911	0.07744421	0.17251	-9.283	0.69500	D	0.35371682974795465	0.45071	0.107	0.20117	B	.;.;.	.;.;.	2.706086	0.35358	19.88	0.99284288146199018	0.58008	0.56796	0.30209	D	AEFDBCI	0.414520	0.48375	N	-0.377503514459143	0.26272	1.432592	-0.419791073847034	0.24417	1.336925	0.753767999298708	0.23401	0.554377	0.28877	0	0.550933	0.16991	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.09	1.85	0.24418	2.561000	0.45567	2.570000	0.33360	-0.249000	0.07183	0.963000	0.33788	0.978000	0.30204	0.008000	0.08271	0.3814:0.4907:0.0:0.128	4.371	0.10680	862	0.33134	.;.;.	CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|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|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood	RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|SGSH|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|SGSH	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	rs11652075	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.422805	0.408163	0.445504	0.473684	0.350000	0.456897	0.380368	0.367424	0.4286	8841.53	97	chr17	80205094	.	C	T	8841.53	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.423;DP=802;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.386;SOR=0.673	GT:AD:DP:GQ:PL	0/1:68,64:132:99:1516,0,1588	1	0	6	0
chr18	57571588	57571588	A	G	intronic	FECH	.	.	.	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	1	1374	141	6	0	153	0.0527404	.	.	YES	15601	not_specified|not_provided|Protoporphyria,_erythropoietic,_1|Erythema|Jaundice|Autosomal_erythropoietic_protoporphyria	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|MONDO:MONDO:0019263,MedGen:CN283243,Orphanet:79278	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0374	0.13738	0.1073	0.0201	0.3755	0.3268	0.0951	0.0515	0.0881	0.0903	0.101059	15624	154602	rs2272783	0.0670	0.0671	0.0677	0.0664	0.3864	0.0667	0.0665	0.3813	0.3792	0.0157	0.3229	0.0647	0.3864	0.0905	0.0519	0.0443	0.0663	0.0887	0.0680	0.0682	0.0619	0.0744	0.3371	0.0669	0.0665	0.3239	0.3186	0.0190	0.0011	0.1825	0.0643	0.3371	0.0969	0.0578	0.0461	0.0771	0.0960	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	598.44	33	chr18	57571588	.	A	G	598.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.432;DP=242;ExcessHet=0;FS=3.859;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-0.253;SOR=0.295	GT:AD:DP:GQ:PL	0/1:38,26:64:99:609,0,1003	6	0	1	0
chr18	57580104	57580104	C	A	exonic	FECH	.	nonsynonymous SNV	FECH:NM_000140:exon2:c.G163T:p.G55C,FECH:NM_001012515:exon2:c.G163T:p.G55C,FECH:NM_001371094:exon2:c.G163T:p.G55C,FECH:NM_001374778:exon2:c.G163T:p.G55C	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	0	1428	91	2	1	96	0.0321925	.	.	.	15587	Protoporphyria,_erythropoietic,_1|not_provided|not_specified	MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.333	.	0.0183	0.0269569	0.0222	0.0164	0.0242	0.0162	0.0178	0.0178	0.0154	0.0475	0.0218044	3371	154602	rs3848519	0.0218	0.0218	0.0212	0.0224	0.0461	0.0216	0.0215	0.0449	0.0444	0.0151	0.0271	0.0043	0.0115	0.0178	0.0191	0.0210	0.0199	0.0461	0.0203	0.0203	0.0199	0.0206	0.0512	0.0197	0.0194	0.0460	0.0439	0.0154	0.1176	0.0340	0.0035	0.0155	0.0176	0.0136	0.0183	0.0204	0.0512	0.174	0.23813	T	0.041	0.50514	D	0.214	0.57599	B	0.174	0.48825	B	0.274696	0.15059	N	0.712091	1	0.08975	N	0	0.06538	N	-4.48	0.97606	D	0.56	0.02764	N	0.152	0.15609	-0.0087	0.82077	T	0.570	0.84426	D	10	0.002217114	0.00032	T	.	.	.	0.333	0.65522	.	.	.	.	.	.	0.724013587441	0.62365	0.322973012924	0.13870	T	0.173614	0.52255	T	-0.321343	0.06788	T	-0.200782	0.54572	T	0.00555085793847404	0.00060	T	0.662034	0.27600	T	0.08802881	0.20522	0.043531016	0.05435	0.06253234	0.13070	0.052749548	0.08749	-6.635	0.51320	T	.	.	0.086	0.11461	B	.;.;.;.	.;.;.;.	1.269418	0.16678	12.70	0.48796855548337736	0.04102	0.11119	0.16420	N	AEFDGBI	0.084074	0.17037	N	-1.2252789467647	0.04636	0.2096441	-1.22242290153849	0.05551	0.2648192	0.999700875770596	0.41986	0.706298	0.61202	0	0.26897	0.04874	2	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.49	1.58	0.22557	0.874000	0.27715	1.866000	0.29355	-1.028000	0.01704	0.684000	0.28476	0.062000	0.22056	0.002000	0.04165	0.0:0.2851:0.1535:0.5614	4.851	0.12900	969	0.06854	.;.;.;.	NARS	Cells_Cultured_fibroblasts	.	.	rs3848519	Likely benign	0	0	0	0	0	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	818.83	33	chr18	57580104	.	C	A	818.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.479;DP=270;ExcessHet=0;FS=0.778;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-1.044;SOR=0.788	GT:AD:DP:GQ:PL	0/1:48,42:90:99:829,0,1148	6	0	1	0
chr18	57580222	57580222	G	A	intronic	FECH	.	.	.	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	2	910	527	83	0	693	0.275766	.	.	.	15589	not_provided|Jaundice|Erythema|not_specified|Protoporphyria,_erythropoietic,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|MedGen:CN169374|MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2588	0.334665	0.2467	0.4468	0.4373	0.3093	0.2329	0.1736	0.2174	0.2577	0.238063	36805	154602	rs2269219	0.1942	0.1944	0.1942	0.1942	0.4542	0.1936	0.1934	0.4482	0.4457	0.4542	0.3983	0.2246	0.3662	0.2313	0.2387	0.1638	0.2062	0.2567	0.2741	0.2744	0.2705	0.2778	0.4470	0.2719	0.2710	0.4416	0.4394	0.4470	0.0822	0.3025	0.2145	0.3240	0.2456	0.3027	0.1704	0.2623	0.2512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1742.73	19	chr18	57580222	.	G	A	1742.73	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.904;DP=166;ExcessHet=3.1439;FS=0.784;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.725;SOR=0.578	GT:AD:DP:GQ:PL	0/1:11,13:24:99:387,0,312	2	0	4	1
chr19	18068539	18068539	G	A	intronic	IL12RB1	.	.	.	Immunodeficiency 30, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	880721	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12RB1_deficiency	MONDO:MONDO:0013955,MedGen:C4013949,OMIM:614891,Orphanet:319552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000399361	0.0001	0	8.639e-05	0	0	0.0002	0	0.0001	0.0001423	22	154602	rs371881148	0.0001	0.0001	0.0001	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	5.987e-05	0.0002	0	0	0	0.0031	0.0001	0.0003	5.8e-05	0.0001	0.0001	0.0001	0.0002	0.0006	9.16e-05	7.714e-05	0.0002	9.905e-05	4.825e-05	0	6.563e-05	0	0	0	0	0.0002	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	524.28	33	chr19	18068539	.	G	A	524.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-1.313;SOR=0.578	GT:AD:DP:GQ:PL	0/1:29,22:51:99:534,0,707	5	0	1	1
chr19	57231146	57231146	-	C	UTR5	AURKC	NM_001015878:c.-103_-102insC	.	.	Spermatogenic failure 5, Autosomal recessive	65	466	590	401	0	1392	0.598967	.	.	.	334414	not_provided|Spermatogenic_Failure	MedGen:C3661900|MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4072	0.3027	0.4348	0.1299	0.4643	0.4440	0.3444	0.4291	0.0002135	33	154602	rs1222518063	0.5018	0.4825	0.5004	0.5033	0.5193	0.5008	0.5004	0.5182	0.5177	0.3396	0.4275	0.5439	0.1515	0.5479	0.4851	0.5193	0.4757	0.5051	0.4596	0.4598	0.4598	0.4594	0.5284	0.4567	0.4556	0.5239	0.5220	0.3529	0.6520	0.4464	0.5419	0.1650	0.5417	0.4795	0.5284	0.4558	0.4827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1198.3	27	chr19	57231146	.	G	GC	1198.3	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.46;DP=255;ExcessHet=0.3476;FS=0.782;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.577;SOR=0.6	GT:AD:DP:GQ:PL	0/1:23,26:49:99:700,0,595	5	0	2	0
chr20	18546201	18546201	A	G	intronic	SEC23B	.	.	.	Cowden syndrome 7, Autosomal dominant;Dyserythropoietic anemia, congenital, type II, Autosomal recessive	437	1075	7	3	0	13	0.00601017	.	.	.	695845	not_provided|Congenital_dyserythropoietic_anemia,_type_II|Cowden_syndrome_7	MedGen:C3661900|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100,Orphanet:98873|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Orphanet:201	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00638978	.	.	.	.	.	.	.	.	0.011065	288	26028	rs111951711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0080	0.0080	0.0084	0.0075	0.0127	0.0076	0.0075	0.0120	0.0117	0.0026	0	0.0078	0.0078	0.0002	0.0008	0.0136	0.0127	0.0133	0.0112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	60.89	9	chr20	18546201	.	A	G	60.89	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=43;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:69:71,0,69	6	0	1	0
chr21	44288472	44288472	C	T	intronic	AIRE	.	.	.	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autosomal recessive, Autosomal dominant	0	1473	45	4	0	53	0.0176726	.	.	.	44332	not_specified|Polyglandular_autoimmune_syndrome,_type_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0152	0.00738818	0.0131	0.0033	0.0094	0.0002	0.0026	0.0197	0.0128	0.0063	0.013027	2014	154602	rs41277546	0.0160	0.0160	0.0161	0.0159	0.0295	0.0159	0.0158	0.0259	0.0245	0.0030	0.0108	0.0218	0	0.0040	0.0295	0.0184	0.0154	0.0062	0.0123	0.0123	0.0131	0.0115	0.0199	0.0118	0.0116	0.0190	0.0186	0.0031	0.0274	0.0126	0.0225	0	0.0024	0.0340	0.0199	0.0184	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1033.53	35	chr21	44288472	.	C	T	1033.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.097;DP=279;ExcessHet=0;FS=1.943;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.648;SOR=0.495	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1044,0,917	6	0	1	0
chr21	46430122	46430122	G	A	exonic	PCNT	.	synonymous SNV	PCNT:NM_001315529:exon36:c.G7449A:p.A2483A,PCNT:NM_006031:exon36:c.G7803A:p.A2601A	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	0	1489	33	0	0	33	0.0109598	.	.	YES	169710	Microcephalic_osteodysplastic_primordial_dwarfism_type_II|not_specified|not_provided|PCNT-related_disorder	MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0013	0.000399361	0.0015	9.643e-05	0.0004	0	0	0.0022	0.0033	0.0015	0.0013325	206	154602	rs144869229	0.0010	0.0010	0.0009	0.0011	0.0062	0.0009	0.0009	0.0046	0.0041	8.961e-05	0.0005	0.0124	0	0	0.0062	0.0007	0.0019	0.0018	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0008	0.0010	0.0009	0.0001	0	0.0007	0.0092	0	0	0.0034	0.0012	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.006546	0.000000	0.002717	0.008772	0.000000	0.008621	0.012195	0.018939	0.07143	2682.45	33	chr21	46430122	.	G	A	2682.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.531;DP=391;ExcessHet=0;FS=4.71;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.694;SOR=0.667	GT:AD:DP:GQ:PL	0/1:103,110:213:99:2693,0,2423	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	18918451	18918451	C	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon11:c.G968A:p.R323H,LOC102724788:NM_001368249:exon11:c.G1292A:p.R431H,LOC102724788:NM_001368250:exon11:c.G968A:p.R323H,PRODH:NM_016335:exon11:c.G1292A:p.R431H	.	1	1322	185	14	0	213	0.0745537	.	.	YES	19050	not_specified|Proline_dehydrogenase_deficiency|Schizophrenia_4	MedGen:CN169374|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.145	.	0.0816	0.0429313	0.0794	0.0387	0.0503	0.0009	0.0537	0.1113	0.0870	0.0471	0.0744363	11508	154602	rs2904552	0.1027	0.1011	0.1062	0.0995	0.1480	0.1014	0.1009	0.1458	0.1449	0.0328	0.0685	0.1381	0.0006	0.0682	0.1018	0.1480	0.1109	0.0519	0.0509	0.0963	0.0519	0.0496	0.0957	0.0460	0.0441	0.0841	0.0797	0.0216	0.5000	0.0466	0.0789	0	0.0414	0.0370	0.0957	0.0625	0.0271	0.004	0.65419	D	0.032	0.53426	D	0.945	0.53279	P	0.408	0.44733	B	0.000345	0.45440	N	0.229694	0.999478	0.47197	A	.	.	.	1.31	0.35405	T	-3.25	0.66206	D	0.158	0.20129	-1.1817	0.00345	T	0.006	0.01981	T	10	0.0036971867	0.00068	T	.	.	.	0.145	0.38592	.	.	.	.	0.6217227933177322	0.62105	0.435677157202	0.43665	0.409796655178	0.26428	T	0.083212	0.37003	T	-0.547933	0.00300	T	-0.463128	0.26258	T	0.0329422262464058	0.02462	T	0.885311	0.61048	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.06525	B	.;.;.;.	.;.;.;.	2.691791	0.35142	19.82	0.99849403335407028	0.92925	0.80218	0.39914	D	AEFDGBI	0.380323	0.46301	N	0.0207175707020348	0.42797	2.585497	-0.030060004355919	0.38363	2.259183	0.940988181924042	0.27456	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.49	1.16	0.19936	1.447000	0.34712	0.795000	0.21604	-0.775000	0.03392	1.000000	0.71638	0.999000	0.35428	0.015000	0.10482	0.0:0.7169:0.0:0.2831	8.739	0.33706	923	0.18507	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain	.	.	.	.	rs2904552	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.100000	0.096939	0.119891	0.088235	0.111111	0.129310	0.088608	0.080769	0.1667	2237.92	38	chr22	18918451	.	C	T	2237.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.182;DP=316;ExcessHet=0.4139;FS=2.794;MLEAC=2;MLEAF=0.167;MQ=57.77;MQRankSum=-3.328;QD=13.56;ReadPosRankSum=2.21;SOR=0.965	GT:AD:DP:GQ:PL	0/1:40,49:89:99:1122,0,898	4	0	2	1
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E	.	425	173	454	470	0	1394	0.801149	.	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.568983	0.565657	0.542120	0.570175	0.550000	0.517241	0.573171	0.662879	0.5	8736.06	41	chr22	43946236	.	A	G	8736.06	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.701;DP=478;ExcessHet=0;FS=2.297;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.47;ReadPosRankSum=-1.261;SOR=0.929	GT:AD:DP:GQ:PL	1/1:0,140:140:99:4151,420,0	3	3	1	0
chrX	71132767	71132767	-	CTCTT	intronic	MED12	.	.	.	Lujan-Fryns syndrome, X-linked recessive;Ohdo syndrome, X-linked, X-linked recessive;Opitz-Kaveggia syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	101149	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs1219529434	0.0956	0.0966	0.0997	0.0853	0.2167	0.0949	0.0946	0.2117	0.2096	0.0541	0.1017	0.0779	0.2167	0.1543	0.0965	0.0813	0.1061	0.1351	0.1337	0.1587	0.1476	0.0804	0.2432	0.1317	0.1309	0.2274	0.2211	0.0805	0.2113	0.1239	0.1098	0.2432	0.1334	0.1111	0.1574	0.1283	0.1640	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	9265.42	28	chrX	71132767	.	C	CCTCTT	9265.42	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.56;DP=296;ExcessHet=0;FS=4.486;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=37.23;ReadPosRankSum=1.44;SOR=1.272	GT:AD:DP:GQ:PL	1/1:1,16:17:40:618,40,0	6	1	0	0