Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES963	WT	HH	HZ	NC
chr1	37708312	37708314	TTC	-	intronic	CDCA8	.	.	.	.	.	430	656	353	83	0	519	0.283452	.	.	1310279	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	34786.27	34	chr1	37708311	.	TTTC	T	34786.27	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-1.170e-01;DP=2206;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=19.29;ReadPosRankSum=0.285;SOR=0.689	GT:AD:DP:GQ:PL	0/1:87,84:171:99:3190,0,3388	10	0	11	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	Osteogenesis_imperfecta_type_8|Osteogenesis_Imperfecta,_Recessive|not_provided	MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN239451|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1694.92	28	chr1	42746620	.	G	A	1694.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=3.14;DP=525;ExcessHet=0.6776;FS=1.017;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=17.47;ReadPosRankSum=0.394;SOR=0.900	GT:AD:DP:GQ:PL	0/1:11,15:26:99:508,0,261	17	0	4	0
chr1	42757818	42757818	C	T	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon5:c.G1045A:p.G349R	Osteogenesis imperfecta, type VIII, Autosomal recessive	.	0	1359	156	7	0	170	0.0588643	.	.	365182	Osteogenesis_imperfecta_type_8|not_specified|Osteogenesis_Imperfecta,_Recessive	MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN169374|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.89	M	-1.66	D	-0.536	T	0.067	T	0.492	4.366	23.0	5.84	2.769	7.487	17.643	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	1	0	0	0	0	1	0	0.09524	6117.92	44	chr1	42757818	.	C	T	6117.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.259;DP=1192;ExcessHet=0.6776;FS=3.217;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=0.518;SOR=0.511	GT:AD:DP:GQ:PL	0/1:86,57:143:99:1313,0,2163	17	0	4	0
chr1	42766833	42766833	C	A	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon1:c.G139T:p.A47S	Osteogenesis imperfecta, type VIII, Autosomal recessive	.	0	1410	108	4	0	116	0.0395095	.	.	365092	Osteogenesis_imperfecta_type_8|not_specified|Osteogenesis_imperfecta|Osteogenesis_Imperfecta,_Recessive	MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN169374|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	0.047	B	0.02	B	0.023	N	0.983	N	-0.05	N	1.22	T	-1.056	T	0.004	T	0.164	2.105	13.00	3.23	0.940	2.122	9.280	0.014	.	0.0423	0.0397364	0.0327	0.0842	0.0234	0.0018	0.0196	0.0294	0.0287	0.0465	0.030116	4656	154602	rs55716016	0.0318	0.0317	0.0315	0.0320	0.0836	0.0315	0.0314	0.0810	0.0799	0.0836	0.0234	0.0391	0.0008	0.0178	0.0411	0.0310	0.0319	0.0442	0.0414	0.0414	0.0421	0.0408	0.0757	0.0406	0.0402	0.0735	0.0726	0.0757	0.0844	0.0249	0.0389	0.0012	0.0210	0.0374	0.0296	0.0510	0.0439	0.387	0.11696	T	0.381	0.16086	T	0.047	0.21998	B	0.013	0.19048	B	0.022525	0.26616	N	0.389923	0.982945	0.24924	N	1.115	0.28702	L	1.22	0.37052	T	-0.34	0.13805	N	0.09	0.08227	-1.0561	0.12750	T	0.004	0.01261	T	10	0.0025526285	0.00039	T	.	.	.	0.014	0.01968	.	.	.	.	0.5244746260840524	0.52371	0.94384216601	0.72326	0.834239780903	0.87213	D	0.063977	0.32315	T	-0.571166	0.00218	T	-0.534036	0.18886	T	0.019137867165652	0.00621	T	0.570643	0.28992	T	0.052076228	0.09659	0.07407858	0.16166	0.066501446	0.14315	0.11549822	0.27881	-4.743	0.33920	T	0.09429628071394193	0.06295	0.077	0.06433	B	.;.;.;.	.;.;.;.	2.450515	0.31553	18.78	0.9420826326093541	0.24448	0.18604	0.20328	N	ALL	0.127930	0.24549	N	-0.485070535527865	0.22570	1.206057	-0.311555900562568	0.27725	1.540484	0.999999999999537	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.16	3.23	0.36150	0.206000	0.17174	2.498000	0.33015	0.533000	0.24879	0.994000	0.38300	1.000000	0.68203	0.891000	0.42908	0.2134:0.7866:0.0:0.0	9.280	0.36881	507	0.75469	.;.;.;.	RP5-994D16.3|RP5-994D16.3|CLDN19|P3H1	Brain_Cerebellum|Nerve_Tibial|Nerve_Tibial|Testis	.	.	rs55716016	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.09524	11418.92	40	chr1	42766833	.	C	A	11418.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.51;DP=1584;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.367;SOR=0.703	GT:AD:DP:GQ:PL	0/1:111,114:225:99:2885,0,2615	17	0	4	0
chr1	55052420	55052420	G	A	intronic	PCSK9	.	.	.	Hypercholesterolemia, familial, 3	.	2	1308	202	10	0	222	0.0782241	.	.	249986	Hypercholesterolemia,_autosomal_dominant,_3|not_specified|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|Hypobetalipoproteinemia|Familial_hypercholesterolemia	MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MedGen:CN169374|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0457	0.0391374	0.0424	0.0404	0.0280	0.0311	0.0208	0.0476	0.0474	0.0471	0.0415907	6430	154602	rs11800243	0.0427	0.0427	0.0426	0.0429	0.1242	0.0425	0.0423	0.1167	0.1137	0.0413	0.0294	0.0973	0.0263	0.0236	0.1242	0.0428	0.0472	0.0439	0.0403	0.0404	0.0420	0.0386	0.0449	0.0395	0.0391	0.0411	0.0406	0.0394	0.0439	0.0355	0.0931	0.0298	0.0173	0.1531	0.0424	0.0550	0.0449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13334.03	87	chr1	55052420	.	G	A	13334.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.67;DP=1889;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.941;SOR=0.672	GT:AD:DP:GQ:PL	0/1:81,65:146:99:1703,0,2123	15	0	6	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	Cardiovascular_phenotype|Familial_hypercholesterolemia|not_provided|Hypobetalipoproteinemia|Hypercholesterolemia,_familial,_1|not_specified|Hypercholesterolemia,_autosomal_dominant,_3	MedGen:CN230736|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776	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	1	1	1.0	116023.81	140	chr1	55057360	.	A	G	116023.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.17;DP=3833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=31.18;ReadPosRankSum=0.146;SOR=0.726	GT:AD:DP:GQ:PL	1/1:0,160:160:99:5139,480,0	0	21	0	0
chr1	97883329	97883329	A	G	exonic	DPYD	.	nonsynonymous SNV	DPYD:NM_000110:exon2:c.T85C:p.C29R	Dihydropyrimidine dehydrogenase deficiency, Autosomal recessive;5-fluorouracil toxicity, Autosomal recessive	.	20	895	480	127	0	734	0.290808	.	.	15474	not_specified|not_provided|fluorouracil_response_-_Toxicity|capecitabine_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency	MedGen:CN169374|MedGen:C3661900|.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:1675	reviewed_by_expert_panel	drug_response	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062677	969	154602	rs1801265	0.2213	0.2213	0.2203	0.2223	0.4125	0.2207	0.2204	0.4068	0.4044	0.4125	0.2142	0.1152	0.0516	0.2878	0.2345	0.2186	0.2229	0.2528	0.2736	0.2738	0.2743	0.2728	0.4040	0.2714	0.2704	0.3989	0.3968	0.4040	0.2204	0.2476	0.1107	0.0719	0.2823	0.2211	0.2254	0.2540	0.2470	.	.	.	0.427	0.13832	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.19325	.	.	.	.	.	.	.	0.0027006269	0.00042	T	.	.	.	.	.	.	.	.	.	0.6104852986908456	0.60980	.	.	.	.	.	0.058699	0.30914	T	.	.	.	.	.	.	.	.	.	0.0231377	0.00135	T	.	.	.	.	.	.	.	.	-5.598	0.42774	T	0.05041581781460596	0.00872	0.043	0.00109	B	.;.	.;.	2.033307	0.25845	16.91	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.647000	0.36876	2.715000	0.34266	-0.103000	0.15852	0.321000	0.25511	0.371000	0.24568	0.770000	0.36519	.	.	.	928	0.17405	.;.	DPYD|DPYD	Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0.2381	8750.78	67	chr1	97883329	.	A	G	8750.78	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.184;DP=1031;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-7.200e-02;SOR=0.687	GT:AD:DP:GQ:PL	0/1:39,52:91:99:1246,0,805	13	2	6	0
chr1	100206310	100206310	-	A	intronic	DBT	.	.	.	Maple syrup urine disease, type II, Autosomal recessive	.	0	104	85	27	10	149	0.400576	.	.	190799	not_provided|Maple_syrup_urine_disease	MedGen:C3661900|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226	0.0424	0.0181	0.0374	0.0145	0.0191	0.0287	0.0255	0.021261	3287	154602	rs566272048	0.0260	0.0567	0.0266	0.0253	0.0502	0.0257	0.0256	0.0479	0.0470	0.0502	0.0193	0.0291	0.0282	0.0179	0.0337	0.0260	0.0280	0.0217	0.0008	0.0011	0.0008	0.0008	0.0007	0.0007	0.0006	0.0005	0.0005	0.0006	0	0.0007	0.0047	0.0002	0.0010	0	0.0007	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	9643.85	33	chr1	100206310	.	T	A,TA	9643.85	.	AC=11,5;AF=0.262,0.119;AN=42;BaseQRankSum=-5.020e-01;DP=1443;ExcessHet=4.5793;FS=1.104;InbreedingCoeff=-0.1912;MLEAC=11,4;MLEAF=0.262,0.095;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-5.090e-01;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,32,0:65:99:.:.:749,0,762,848,856,1703	7	1	8	0
chr1	156137190	156137190	C	T	exonic	LMNA	.	synonymous SNV	LMNA:NM_001257374:exon9:c.C1230T:p.C410C	Cardiomyopathy, dilated, 1A, Autosomal dominant;Charcot-Marie-Tooth disease, type 2B1, Autosomal recessive;Emery-Dreifuss muscular dystrophy 2, AD, Autosomal dominant;Emery-Dreifuss muscular dystrophy 3, AR, Autosomal recessive;Heart-hand syndrome, Slovenian type, Autosomal dominant;Hutchinson-Gilford progeria, Autosomal recessive, Autosomal dominant;Lipodystrophy, familial partial, type 2, Autosomal dominant;Malouf syndrome, Autosomal dominant;Mandibuloacral dysplasia, Autosomal recessive;Muscular dystrophy, congenital, Autosomal dominant;Muscular dystrophy, limb-girdle, type 1B, Autosomal dominant;Restrictive dermopathy, lethal, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	.	.	57207	Familial_partial_lipodystrophy,_Dunnigan_type|Dilated_cardiomyopathy_1A|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Limb-girdle_muscular_dystrophy,_recessive|Emery-Dreifuss_muscular_dystrophy_2,_autosomal_dominant|Charcot-Marie-Tooth_disease_type_2|Congenital_muscular_dystrophy_due_to_LMNA_mutation|Hutchinson-Gilford_syndrome|Charcot-Marie-Tooth_disease_type_2B1|Mandibuloacral_dysplasia_with_type_A_lipodystrophy|Cardiomyopathy|not_specified|Lethal_tight_skin_contracture_syndrome|not_provided|Emery-Dreifuss_muscular_dystrophy|Cardiovascular_phenotype|Charcot-Marie-Tooth_disease	MONDO:MONDO:0007906,MedGen:C1720860,OMIM:151660,Orphanet:2348|MONDO:MONDO:0007269,MedGen:C1449563,OMIM:115200,Orphanet:300751|MedGen:CN239184|MedGen:CN239352|MONDO:MONDO:0021569,MedGen:C0410190,OMIM:181350,Orphanet:261,Orphanet:264|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MONDO:MONDO:0013178,MedGen:C2750785,OMIM:613205,Orphanet:157973|MONDO:MONDO:0008310,MedGen:C0033300,OMIM:176670,Orphanet:740|MONDO:MONDO:0011569,MedGen:C1854154,OMIM:605588,Orphanet:98856|MONDO:MONDO:0009557,MedGen:C5399785,OMIM:248370,Orphanet:2457,Orphanet:90153|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0031213,MedGen:C0406585,OMIM:PS275210,Orphanet:1662|MedGen:C3661900|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|MedGen:CN230736|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.00239617	0.0007	0.0051	0.0009	0	0	0.0002	0.0018	0.0002	0.0004334	67	154602	rs149339264	0.0002	0.0002	0.0002	0.0002	0.0036	0.0002	0.0002	0.0031	0.0029	0.0036	0.0011	0	0	1.927e-05	0.0009	9.286e-05	0.0005	7.035e-05	0.0012	0.0012	0.0012	0.0012	0.0038	0.0011	0.0010	0.0033	0.0031	0.0038	0	0.0010	0	0	0	0	0.0001	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.503423	0.00547	T	-0.496429	0.22719	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.737457	0.11067	7.719	0.80605858397115782	0.13282	0.18104	0.20121	N	AEFDGBHCI	0.010078	0.00067	N	.	.	.	.	.	.	0.999999989750171	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	5.29	-3.9	0.03904	-2.859000	0.00796	-3.703000	0.02594	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.2057:0.1638:0.0:0.6305	6.446	0.21079	463	0.78548	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1490.98	37	chr1	156137190	.	C	T	1490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.250e+00;DP=845;ExcessHet=0.0000;FS=9.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=0.186;SOR=0.409	GT:AD:DP:GQ:PL	0/1:41,59:100:99:1505,0,1047	20	0	1	0
chr1	158618068	158618068	G	A	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	YES	3	913	508	98	0	704	0.278261	0.0005	0.264	249428	Elliptocytosis_2|Pyropoikilocytosis,_hereditary|not_specified|not_provided|Hemolytic_anemia|Hereditary_spherocytosis_type_3	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2491	0.227835	0.2564	0.1998	0.1610	0.1912	0.3018	0.2874	0.2617	0.2473	0.255081	39436	154602	rs28525570	0.2712	0.2729	0.2704	0.2720	0.2797	0.2705	0.2702	0.2788	0.2785	0.1970	0.1760	0.3492	0.2025	0.2895	0.2419	0.2797	0.2632	0.2453	0.2538	0.2539	0.2524	0.2553	0.2882	0.2517	0.2508	0.2848	0.2834	0.1983	0.2286	0.2184	0.3417	0.1855	0.3091	0.3265	0.2882	0.2640	0.2447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16533.11	113	chr1	158618068	.	G	A	16533.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.748;DP=1490;ExcessHet=1.3217;FS=0.000;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.52;ReadPosRankSum=0.297;SOR=0.671	GT:AD:DP:GQ:PL	0/1:64,45:109:99:1113,0,1481	10	2	9	0
chr1	158627717	158627717	G	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon40:c.C5572G:p.L1858V,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	YES	5	902	520	95	0	710	0.282418	.	.	249434	Elliptocytosis_2|Pyropoikilocytosis,_hereditary|not_specified|Hemolytic_anemia|Hereditary_spherocytosis_type_3|not_provided	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.601	P	0.395	B	0.296	N	0.032	P	2.3	M	0.82	T	-1.004	T	0.100	T	0.16	2.108	13.00	2.68	0.451	2.457	10.249	0.176	.	0.2495	0.227835	0.2567	0.2000	0.1610	0.1910	0.3021	0.2878	0.2617	0.2475	0.255042	39430	154602	rs3737515	0.2731	0.2734	0.2725	0.2737	0.2819	0.2723	0.2721	0.2810	0.2807	0.1983	0.1760	0.3506	0.2028	0.2894	0.2433	0.2819	0.2648	0.2460	0.2536	0.2539	0.2523	0.2550	0.2882	0.2515	0.2506	0.2848	0.2834	0.1981	0.2286	0.2176	0.3430	0.1851	0.3087	0.3207	0.2882	0.2621	0.2442	0.009	0.57480	D	0.019	0.59159	D	0.601	0.39346	P	0.395	0.44317	B	0.295829	0.14686	N	0.398187	0.0322052	0.38617	P	2.66	0.77858	M	0.82	0.48142	T	-2.39	0.52612	N	0.242	0.27316	-1.0044	0.28636	T	0.100	0.37162	T	9	0.0018082857	0.00024	T	.	.	.	0.176	0.44373	.	.	.	.	0.10204742782828059	0.10134	0.151848470416	0.17138	0.413743078709	0.26975	T	0.398082	0.75628	T	-0.578861	0.00196	T	-0.46045	0.26549	T	0.0265270473936109	0.01477	T	0.989945	0.96848	D	0.47455317	0.65569	0.45098418	0.68054	0.5292539	0.68789	0.3938572	0.64094	-7.424	0.57073	T	0.4696991537525536	0.55038	0.119	0.24430	B	.;.	.;.	2.721452	0.35600	19.94	0.99057226967889789	0.51390	0.97183	0.73178	D	AEFBI	0.628036	0.61027	D	-0.0876209270705267	0.37935	2.214285	-0.10368608914381	0.35242	2.036537	0.00115487049960551	0.08283	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.55	2.68	0.30839	2.724000	0.46956	1.029000	0.23465	-0.106000	0.15538	1.000000	0.71638	0.238000	0.23831	0.191000	0.21631	0.2184:0.0:0.7816:0.0	10.249	0.42538	645	0.63593	.;.	CD1B	Whole_Blood	SPTA1|SPTA1	Testis|Whole_Blood	rs3737515	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.3095	21434.11	139	chr1	158627717	.	G	C	21434.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-1.463e+00;DP=1772;ExcessHet=1.3217;FS=0.539;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=-2.220e-01;SOR=0.753	GT:AD:DP:GQ:PL	0/1:61,67:128:99:1734,0,1579	10	2	9	0
chr1	158668076	158668078	AAA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276726	Pyropoikilocytosis,_hereditary|Elliptocytosis|not_provided|Spherocytosis,_Recessive	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480|MedGen:CN517202|MedGen:CN239472	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261382	0.2751	0.1818	0.3209	0.3391	0.3421	0.2907	0.2962	0.1744	0.0001537	4	26028	rs140998442	0.2835	0.2762	0.2874	0.2795	0.3211	0.2827	0.2824	0.3164	0.3145	0.1824	0.3211	0.3004	0.3201	0.3428	0.3048	0.2886	0.2864	0.1756	0.3122	0.3051	0.3058	0.3190	0.4553	0.3097	0.3087	0.4394	0.4329	0.1942	0.4510	0.3960	0.3610	0.4553	0.4283	0.3444	0.3419	0.3398	0.2111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	15062.3	68	chr1	158668075	.	GAAA	GAA,GAAAA,G,GA	15062.3	.	AC=14,3,7,2;AF=0.333,0.071,0.167,0.048;AN=42;BaseQRankSum=-2.100e-02;DP=1517;ExcessHet=20.9642;FS=1.232;InbreedingCoeff=-0.6153;MLEAC=14,3,7,2;MLEAF=0.333,0.071,0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.409;SOR=0.800	GT:AD:DP:GQ:PL	0/1:26,25,4,2,4:61:99:487,0,504,559,454,1306,536,607,1257,1918,421,553,1010,1424,1317	0	0	10	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,27,0,0:65:99:.:.:505,0,1300,620,1381,2002,620,1381,2002,2002	3	0	13	0
chr1	168293284	168293284	-	GTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278196	Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_provided	Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0333	0.0427	0.0224	0.0212	0.0098	0.0195	0.0439	0.0785	0.003842	100	26028	rs746838916	0.0596	0.0819	0.0593	0.0600	0.1098	0.0593	0.0591	0.1069	0.1057	0.0570	0.1098	0.0482	0.0845	0.0707	0.0885	0.0555	0.0629	0.0722	0.1451	0.1522	0.1446	0.1456	0.1848	0.1432	0.1425	0.1784	0.1758	0.1799	0.1222	0.1848	0.0991	0.1600	0.1397	0.1396	0.1219	0.1484	0.1679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,27,0,0:65:99:.:.:505,0,1300,620,1381,2002,620,1381,2002,2002	3	0	13	0
chr1	168293284	168293284	-	GTGTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277080	Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_provided	Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.0069	0.0016	0.0024	0	0.0029	0	0.0130	0.0005763	15	26028	rs746838916	0.0078	0.0121	0.0077	0.0078	0.0172	0.0076	0.0076	0.0141	0.0130	0.0092	0.0144	0.0060	0.0111	0.0017	0.0172	0.0073	0.0088	0.0108	0.0215	0.0223	0.0222	0.0208	0.0336	0.0208	0.0206	0.0318	0.0311	0.0336	0.0423	0.0224	0.0189	0.0191	0.0032	0.0270	0.0178	0.0223	0.0266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,27,0,0:65:99:.:.:505,0,1300,620,1381,2002,620,1381,2002,2002	3	0	13	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|not_provided|not_specified|Thrombophilia_due_to_activated_protein_C_resistance	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.800	N	1.000	P	-0.345	N	-5.02	D	-0.434	T	0.433	T	0.037	-1.434	0.020	-2.86	-0.913	-2.414	3.252	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.2857	19684.36	33	chr1	169529737	.	T	C	19684.36	.	AC=12;AF=0.286;AN=42;BaseQRankSum=0.592;DP=1565;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=18.13;ReadPosRankSum=0.437;SOR=0.646	GT:AD:DP:GQ:PL	0/1:58,34:92:99:884,0,1414	12	3	6	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	Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|not_provided|not_specified	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.0	B	0.635	N	1.000	P	-0.805	N	2.17	T	-0.910	T	0.005	T	0.022	-0.986	0.281	-1.7	-0.097	-0.454	5.162	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.2143	30189.99	37	chr1	169542517	.	T	C	30189.99	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.620e-01;DP=2639;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=15.56;ReadPosRankSum=0.326;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,118:247:99:.:.:3134,0,3464	13	1	7	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	YES	467	200	364	491	0	1346	0.770905	1.0000	0.918	249563	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified|not_provided	MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	1.765	11.86	5.26	2.598	4.200	14.730	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	32697.54	93	chr1	179889309	.	G	A	32697.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=0.720;DP=1629;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=21.37;ReadPosRankSum=0.266;SOR=0.619	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1889,186,0	2	11	8	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	YES	207	250	453	612	0	1677	0.770326	.	.	278205	Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Age_related_macular_degeneration_4|Atypical_hemolytic-uremic_syndrome	MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	P	.	.	-0.03	T	-1.007	T	0.000	T	0.041	-2.252	0.004	-9.09	-4.010	-6.715	2.071	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	1	0	0.6429	62931.18	182	chr1	196690107	.	C	T	62931.18	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.049;DP=3170;ExcessHet=3.1640;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=27;MLEAF=0.643;MQ=59.99;MQRankSum=0.00;QD=20.84;ReadPosRankSum=-4.090e-01;SOR=0.671	GT:AD:DP:GQ:PL	1/1:0,158:158:99:5388,475,0	2	8	11	0
chr1	197101048	197101048	A	C	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.T8203G:p.F2735V,	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	167737	ASPM-related_disorder|Microcephaly_5,_primary,_autosomal_recessive|not_provided	.|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.977	D	0.87	P	0.041	N	0.999	N	2.84	M	-0.55	T	-0.505	T	0.462	T	0.442	2.559	14.52	2.77	0.478	2.084	6.107	0.303	.	7.7e-05	0.00559105	0.0020	0	0.0002	0	0	0	0	0.0145	0.0018046	279	154602	rs372416792	0.0008	0.0008	0.0005	0.0012	0.0130	0.0008	0.0008	0.0124	0.0121	3.006e-05	6.756e-05	0	0	0	0.0003	2.7e-06	0.0012	0.0130	0.0005	0.0005	0.0003	0.0006	0.0145	0.0004	0.0004	0.0118	0.0108	4.817e-05	0	0	0	0	0	0	0	0	0.0145	0.006	0.61437	D	0.038	0.51421	D	0.973	0.57599	D	0.87	0.61806	P	0.041163	0.23978	N	0.400687	1	0.21619	N	2.895	0.83812	M	-0.55	0.71068	T	-3.22	0.64939	D	0.188	0.20528	-0.5051	0.68464	T	0.462	0.79168	T	10	0.009033561	0.00204	T	.	.	.	0.303	0.62400	.	.	0.673305021989	0.67053	0.0198826608712278	0.01941	.	.	0.294791817665	0.09627	T	0.355614	0.72259	T	-0.313263	0.07464	T	-0.211081	0.53591	T	0.0904703142660573	0.11274	T	0.780422	0.41514	T	0.19454367	0.41208	0.18985574	0.42355	0.19454367	0.41207	0.18985574	0.42354	-10.368	0.76085	D	.	.	0.138	0.30184	B	.	.	1.539156	0.19741	14.41	0.92047509279450745	0.21390	0.31518	0.24357	N	AEFBI	0.172406	0.29944	N	-0.123788452503402	0.36359	2.100528	-0.382745817838522	0.25511	1.403407	0.973618306099741	0.29471	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	3.95	2.77	0.31614	2.308000	0.43350	-0.683000	0.07876	0.756000	0.94297	0.005000	0.17040	0.000000	0.08366	0.384000	0.26424	0.6683:0.1693:0.0:0.1624	6.107	0.19303	179	0.93046	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	2044.98	34	chr1	197101048	.	A	C	2044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.327e+00;DP=849;ExcessHet=0.0000;FS=11.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=1.56;SOR=0.943	GT:AD:DP:GQ:PL	0/1:74,75:149:99:2059,0,2223	20	0	1	0
chr1	197143319	197143319	G	C	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_001206846:exon3:c.C933G:p.S311R	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	206754	Microcephaly_5,_primary,_autosomal_recessive|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.196	B	0.055	B	0.392	N	1.000	N	1.895	L	1.52	T	-0.919	T	0.154	T	0.341	1.433	10.73	1.65	0.638	0.701	5.120	0.029	0.0171683685263	.	0.000599042	0.0008	0	0	0	0	0.0003	0.0022	0.0042	0.0006145	95	154602	rs563858170	0.0004	0.0004	0.0003	0.0006	0.0051	0.0004	0.0004	0.0047	0.0046	0	2.236e-05	0	0	0	0.0029	0.0001	0.0008	0.0051	0.0002	0.0002	0.0001	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	2.406e-05	0	6.538e-05	0	0	0	0	0.0002	0	0.0044	0.005	0.63226	D	0.014	0.63109	D	0.196	0.29532	B	0.036	0.22909	B	0.391828	0.13244	N	0.731127	1	0.08975	N	1.83	0.48079	L	0.3	0.58755	T	-1.29	0.32791	N	0.222	0.26475	-0.9186	0.45743	T	0.154	0.48360	T	10	0.0045710206	0.00095	T	0.017168	0.38759	T	0.029	0.06676	0.191	0.10171	0.43656330218	0.43278	0.3086480884578543	0.30777	.	.	0.340711534023	0.16545	T	0.060068	0.31287	T	-0.408179	0.02044	T	-0.358831	0.38188	T	0.0191107464688734	0.00619	T	0.885811	0.61875	D	0.101184465	0.23898	0.1190928	0.28747	0.0968517	0.22820	0.08680904	0.20136	-5.32	0.40140	T	0.5299856242699648	0.60099	0.290	0.59114	B	.;.	.;.	1.870761	0.23763	16.14	0.98964838799415278	0.49403	0.62908	0.31925	D	AEFDGBIJ	0.115250	0.22668	N	-0.339159947051418	0.27672	1.520157	-0.310895020964569	0.27745	1.541806	0.999985674901629	0.51787	0.608746	0.35421	0	0.627608	0.54475	0	0.486962	0.07600	0	0.677038	0.66255	0	.	.	5.49	1.65	0.23015	0.630000	0.24244	3.447000	0.38420	0.665000	0.62972	0.902000	0.31475	1.000000	0.68203	0.808000	0.38083	0.2309:0.0:0.6095:0.1596	5.120	0.14189	214	0.91692	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2153.98	34	chr1	197143319	.	G	C	2153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.222;DP=868;ExcessHet=0.0000;FS=1.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.145;SOR=0.774	GT:AD:DP:GQ:PL	0/1:81,80:161:99:2168,0,2170	20	0	1	0
chr1	212897349	212897349	-	ACAC	UTR3	FLVCR1	NM_014053:c.*2059_*2060insACAC	.	.	Ataxia, posterior column, with retinitis pigmentosa, Autosomal recessive	.	1218	248	11	45	0	101	0.169179	.	.	280300	Posterior_column_ataxia-retinitis_pigmentosa_syndrome	MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033,Orphanet:88628	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255591	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs139242973	0.0139	0.0084	0	0.0167	0.0152	0	0	.	.	0	.	.	.	.	.	0.0152	0	.	0.2052	0.2032	0.2026	0.2080	0.3738	0.2033	0.2025	0.3656	0.3622	0.1629	0.3634	0.3738	0.3073	0.3457	0.1403	0.2345	0.1773	0.2655	0.2648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	964.46	1	chr1	212897349	.	T	TACAC	964.46	.	AC=14;AF=0.389;AN=36;DP=58;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6133;MLEAC=15;MLEAF=0.417;MQ=60.00;QD=27.57;SOR=0.874	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0	11	7	0	3
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q,	.	YES	440	2	22	1058	0	2138	0.998133	.	.	1704217	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	0.484	N	1.000	P	-0.345	N	1.98	T	-1.012	T	0.000	T	0.024	1.017	9.155	-4.95	-0.777	-0.899	2.079	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	1.0	76821.81	101	chr1	226735804	.	G	T	76821.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.84;DP=2407;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=33.21;ReadPosRankSum=1.53;SOR=0.318	GT:AD:DP:GQ:PL	1/1:0,99:99:99:3421,297,0	0	21	0	0
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A,	.	YES	424	234	529	335	0	1199	0.719256	.	.	1704219	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.983	N	1.000	P	-0.695	N	2.07	T	-0.944	T	0.000	T	0.028	-1.112	0.132	1.01	-0.121	0.079	3.041	0.047	.	0.5142	0.610423	0.5305	0.5845	0.7358	0.6685	0.4347	0.4720	0.5254	0.5623	0.50903	78697	154602	rs6667260	0.4825	0.4819	0.4809	0.4841	0.7102	0.4815	0.4811	0.7027	0.6996	0.5746	0.7102	0.5629	0.6813	0.4308	0.6177	0.4599	0.5103	0.5424	0.5227	0.5226	0.5220	0.5234	0.6711	0.5197	0.5184	0.6525	0.6449	0.5810	0.4967	0.6248	0.5700	0.6711	0.4299	0.6190	0.4617	0.5449	0.5568	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.982952	0.08082	N	0.990786	1	0.08975	P	-1.445	0.00556	N	2.07	0.20523	T	0.05	0.06369	N	0.012	0.00279	-0.9439	0.41992	T	0.000	0.00011	T	9	3.5098994e-06	0.00003	T	.	.	.	0.047	0.12962	.	.	.	.	0.05903511649592833	0.05844	0.161341295611	0.18212	0.352891504765	0.18347	T	0.023569	0.17967	T	-0.842882	0.00003	T	-0.839698	0.01103	T	0.0107150276910547	0.00151	T	0.0740926	0.00542	T	0.03752211	0.04827	0.026574247	0.00754	0.03752211	0.04827	0.026574247	0.00754	-4.077	0.24950	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-0.032082	0.04066	0.946	0.19618645798258003	0.00670	0.00108	0.00689	N	AEFBCI	0.019005	0.00622	N	-1.50554167816208	0.01813	0.07947133	-1.45024527399043	0.02768	0.1279108	0.999628074989162	0.41093	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.636168	0.56350	0	.	.	4.1	1.01	0.19044	-0.836000	0.04489	-0.357000	0.09702	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.324:0.3961:0.0:0.28	3.041	0.05767	845	0.36510	.;.;.	PSEN2|COQ8A|PSEN2|PSEN2|ITPKB|COQ8A	Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Whole_Blood|Whole_Blood	COQ8A|PSEN2	Adipose_Subcutaneous|Lung	rs6667260	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	0.5714	30384.06	73	chr1	226736237	.	A	C	30384.06	.	AC=24;AF=0.571;AN=42;BaseQRankSum=2.65;DP=1720;ExcessHet=0.2438;FS=1.233;InbreedingCoeff=0.2222;MLEAC=24;MLEAF=0.571;MQ=60.00;MQRankSum=0.00;QD=23.70;ReadPosRankSum=0.128;SOR=0.798	GT:AD:DP:GQ:PL	0/1:45,25:70:99:773,0,1410	5	8	8	0
chr1	226736941	226736941	C	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.G518A:p.R173H,	.	.	430	682	354	56	0	466	0.254645	.	.	1704218	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.946	P	0.224	B	0.000	D	0.418	P	0.805	L	1.24	T	-0.958	T	0.000	T	0.149	4.025	20.6	4.6	2.374	2.942	9.190	0.056	.	0.1800	0.227037	0.2073	0.1738	0.3185	0.3280	0.1558	0.1880	0.1973	0.1848	0.19979	30888	154602	rs3754415	0.1881	0.1880	0.1884	0.1878	0.3351	0.1875	0.1873	0.3303	0.3283	0.1707	0.2966	0.2663	0.3351	0.1548	0.2880	0.1782	0.1943	0.1838	0.1865	0.1867	0.1856	0.1874	0.3138	0.1847	0.1839	0.3011	0.2959	0.1682	0.1151	0.2325	0.2674	0.3138	0.1523	0.3333	0.1781	0.2009	0.1956	0.032	0.44694	D	0.02	0.58613	D	0.946	0.53363	P	0.224	0.37970	B	0.000055	0.53742	D	0.000000	0.418022	0.32383	P	0.895	0.22405	L	1.24	0.37746	T	-0.65	0.47514	N	0.124	0.34981	-0.9584	0.39479	T	0.000	0.00011	T	9	0.0021621883	0.00031	T	.	.	.	0.056	0.15993	.	.	.	.	0.23406785644181313	0.23321	0.861550697469	0.68985	0.704100191593	0.67737	T	0.12802	0.45541	T	-0.616075	0.00116	T	-0.513906	0.20915	T	0.0266560751426077	0.01496	T	0.835916	0.50694	T	0.114855304	0.27110	0.07389491	0.16108	0.114855304	0.27110	0.07389491	0.16108	-5.753	0.44163	T	.	.	0.218	0.47976	B	.;.;.	.;.;.	5.064409	0.84424	28.3	0.9994872816168342	0.99931	0.74930	0.36668	D	AEFDBCI	0.356379	0.44778	N	0.214153401976771	0.51885	3.366394	0.283554889984617	0.54579	3.622453	0.999998532014926	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.6	4.6	0.56512	1.881000	0.39273	5.847000	0.50302	0.599000	0.40250	0.765000	0.29300	1.000000	0.68203	0.991000	0.66497	0.0:0.8609:0.0:0.1391	9.190	0.36357	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	.	.	rs3754415	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	0.1667	12618.55	50	chr1	226736941	.	C	T	12618.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.523e+00;DP=1760;ExcessHet=2.5830;FS=32.932;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=15.95;ReadPosRankSum=0.230;SOR=0.102	GT:AD:DP:GQ:PL	0/1:44,77:121:99:2051,0,1093	14	0	7	0
chr1	228158333	228158333	C	G	exonic	GJC2	.	nonsynonymous SNV	GJC2:NM_020435:exon2:c.C575G:p.P192R,	Leukodystrophy, hypomyelinating, 2, Autosomal recessive;Lymphedema, hereditary, IC, Autosomal dominant;Spastic paraplegia 44, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	421214	Spastic_paraplegia|GJC2-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN230087|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.049	B	0.01	B	0.000	N	1.000	N	1.01	L	-4.69	D	0.132	D	0.796	D	0.17	0.801	8.213	-3.98	-0.601	0.006	2.434	0.208	0.71961869104	0.0010	.	0.0034	0.0006	0.0013	0	0	0.0066	0	0.0010	0.0009379	145	154602	rs375318012	0.0015	0.0015	0.0015	0.0015	0.0018	0.0015	0.0014	0.0017	0.0017	0.0002	0.0001	3.936e-05	0	0.0002	0.0002	0.0018	0.0011	0.0011	0.0011	0.0011	0.0012	0.0010	0.0020	0.0010	0.0009	0.0017	0.0016	0.0004	0	0.0004	0.0003	0	0.0003	0	0.0020	0	0.0006	0.092	0.31682	T	0.244	0.24123	T	0.049	0.22227	B	0.01	0.14941	B	0.000003	0.00162	N	7739.210000	1	0.08975	N	1.735	0.44892	L	-4.69	0.98005	D	-0.58	0.17417	N	0.197	0.21710	0.132	0.84736	D	0.796	0.93093	D	10	0.01837939	0.00399	T	0.719619	0.97730	D	0.208	0.49714	.	.	0.516050471323	0.51246	0.2943064787236278	0.29343	.	.	0.77952080965	0.78855	T	0.418878	0.77108	T	-0.312536	0.07527	T	-0.226951	0.52065	T	0.0233854297548532	0.01069	T	0.330167	0.06908	T	0.061174344	0.12637	0.061516296	0.11892	0.061174344	0.12636	0.061516296	0.11891	-3.597	0.17813	T	0.11248283493045236	0.09737	0.068	0.02702	B	.	.	0.336096	0.07097	3.672	0.92055693168278452	0.21399	0.12118	0.17071	N	AEFBI	0.049222	0.08481	N	-1.2856089161511	0.03847	0.1726307	-1.3851474616222	0.03409	0.1589787	0.985551897002576	0.30907	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	3.99	-3.98	0.03810	-0.479000	0.06647	0.084000	0.14428	-0.404000	0.05286	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1416:0.2513:0.4183:0.1888	2.434	0.04206	548	0.72362	Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1031.98	33	chr1	228158333	.	C	G	1031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.717e+00;DP=846;ExcessHet=0.0000;FS=6.614;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-3.270e-01;SOR=1.519	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1046,0,1198	20	0	1	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	Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG|not_provided	MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622|MedGen:CN517202	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	7102.5	88	chr1	236897645	.	CT	C,CTT	7102.5	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=0.279;DP=1850;ExcessHet=6.4157;FS=0.544;InbreedingCoeff=-0.2872;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=-6.480e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:26,32,2:63:99:664,0,499,787,518,1587	6	1	13	0
chr1	237833281	237833281	-	A	UTR3	RYR2	NM_001035:c.*634_*635insA	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	1408	66	5	15	28	63	0.209581	.	.	280387	not_provided|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs377407067	0.2755	0.0041	0.2917	0.2703	.	0.1945	0.1673	.	.	.	.	.	.	0.2812	.	.	0	.	0.4582	0.4444	0.4668	0.4482	0.5296	0.4549	0.4535	0.5246	0.5225	0.3777	0.5124	0.3661	0.6708	0.0836	0.4726	0.6667	0.5296	0.4907	0.3968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	5237.92	24	chr1	237833281	.	G	GAA,GA	5237.92	.	AC=6,20;AF=0.150,0.500;AN=40;BaseQRankSum=0.164;DP=578;ExcessHet=1.5101;FS=1.093;InbreedingCoeff=-0.0690;MLEAC=6,21;MLEAF=0.150,0.525;MQ=60.00;MQRankSum=0.00;QD=16.63;ReadPosRankSum=0.147;SOR=0.801	GT:AD:DP:GQ:PL	1/2:0,6,10:16:99:434,233,214,154,0,109	2	0	2	1
chr1	241500603	241500604	GA	-	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	435	459	46	27	555	655	0.0982318	.	.	280521	Hereditary_leiomyomatosis_and_renal_cell_cancer|not_provided|Fumarase_deficiency|Hereditary_cancer-predisposing_syndrome|FH-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:C3661900|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1491361156	0.0408	0.0471	0.0403	0.0412	0.1123	0.0405	0.0404	0.1094	0.1083	0.1101	0.0807	0.0668	0.1123	0.0526	0.0602	0.0329	0.0476	0.0425	0.0220	0.0219	0.0220	0.0219	0.0720	0.0213	0.0210	0.0697	0.0687	0.0720	0.0012	0.0094	0.0024	0.0065	0.0031	0.0074	0.0030	0.0122	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11846.01	26	chr1	241500602	.	TGA	TGAGA,TGAGAGA,T,TGAGAGAGAGA,TGAGAGAGA,TGAGAGAGAGAGAGAGA	11846.01	.	AC=10,12,1,3,6,1;AF=0.250,0.300,0.025,0.075,0.150,0.025;AN=40;BaseQRankSum=0.270;DP=1010;ExcessHet=0.9430;FS=2.185;InbreedingCoeff=-0.1062;MLEAC=10,12,1,3,6,1;MLEAF=0.250,0.300,0.025,0.075,0.150,0.025;MQ=59.96;MQRankSum=0.00;QD=25.59;ReadPosRankSum=0.383;SOR=1.052	GT:AD:DP:GQ:PL	1/2:1,4,20,0,3,0,0:28:29:988,542,514,77,0,42,912,558,114,942,784,421,29,821,884,912,558,114,942,821,942,912,558,114,942,821,942,942	0	0	1	1
chr2	21001971	21001971	G	A	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.C13451T:p.T4484M,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	1	1452	67	2	0	71	0.0238655	.	.	250516	Hypercholesterolemia,_familial,_1|not_provided|Cardiovascular_phenotype|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_type_B|not_specified	MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.001	B	0.271	N	0.999	N	-2.16	N	1.17	T	-0.988	T	0.000	T	0.072	-1.930	0.008	2.22	0.490	1.767	6.340	0.033	.	0.0374	0.0383387	0.0128	0.1093	0.0119	0.0001	0	0.0041	0.0165	0.0013	0.0126454	1955	154602	rs12713450	0.0061	0.0061	0.0064	0.0057	0.1169	0.0059	0.0059	0.1138	0.1125	0.1169	0.0127	0.0095	7.56e-05	0.0001	0.0619	0.0025	0.0133	0.0015	0.0337	0.0338	0.0351	0.0324	0.1071	0.0330	0.0327	0.1045	0.1034	0.1071	0	0.0217	0.0144	0.0002	0	0.0680	0.0030	0.0360	0.0010	0.857	0.02691	T	0.339	0.18071	T	.	.	.	.	.	.	0.270656	0.15134	N	0.646971	1	0.08975	N	.	.	.	1.17	0.37910	T	1.51	0.00728	N	0.018	0.00252	-0.9882	0.33052	T	0.000	0.00114	T	10	0.0017679632	0.00023	T	.	.	.	0.033	0.08068	.	.	.	.	0.15419843173807007	0.15340	0.037600078652	0.03990	0.264712750912	0.05465	T	.	.	.	-0.71422	0.00030	T	-0.711851	0.05200	T	0.00588594810626993	0.00065	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03301	B	.	.	0.924158	0.12994	9.497	0.54444621325845222	0.05139	0.29796	0.23916	N	AEFBCI	0.270368	0.38645	N	-1.17448093382538	0.05388	0.2455081	-0.990818953714507	0.09990	0.5004064	0.964727231616219	0.28780	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	2.22	0.27116	2.311000	0.43377	2.541000	0.33216	-0.151000	0.12117	0.985000	0.35982	0.108000	0.22760	0.012000	0.09680	0.4718:0.0:0.5282:0.0	6.340	0.20521	861	0.33516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6614.68	33	chr2	21001971	.	G	A	6614.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.018;DP=1129;ExcessHet=0.3300;FS=2.431;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=0.055;SOR=0.793	GT:AD:DP:GQ:PL	0/1:70,82:152:99:2103,0,1756	18	0	3	0
chr2	21003040	21003040	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.G12382A:p.V4128M,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	YES	1	1501	19	1	0	21	0.00694674	.	.	366335	not_specified|Hypercholesterolemia,_autosomal_dominant,_type_B|not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia	MedGen:CN169374|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	0.004	B	0.002	B	0.051	N	1.000	N	-0.6	N	1.47	T	-1.057	T	0.016	T	0.055	-0.523	1.616	-12.0	-2.864	-1.892	5.102	0.024	.	0.0067	0.00339457	0.0062	0.0009	0.0059	0	0.0064	0.0080	0.0146	0.0049	0.0058602	906	154602	rs1801703	0.0072	0.0072	0.0073	0.0072	0.0100	0.0071	0.0071	0.0079	0.0079	0.0017	0.0043	0.0007	7.656e-05	0.0054	0.0100	0.0081	0.0075	0.0052	0.0056	0.0056	0.0057	0.0054	0.0093	0.0053	0.0051	0.0087	0.0085	0.0016	0	0.0046	0.0012	0	0.0048	0.0034	0.0093	0.0052	0.0029	0.618	0.05341	T	0.684	0.06033	T	.	.	.	.	.	.	0.051185	0.02021	N	1.899840	1	0.08975	N	.	.	.	1.47	0.31987	T	0.16	0.05217	N	0.065	0.03726	-1.0567	0.12595	T	0.016	0.06425	T	10	0.0028062165	0.00044	T	.	.	.	0.024	0.04979	.	.	0.149567049428	0.14543	0.09888669999826209	0.09819	0.0368754698301	0.03907	0.182299241424	0.00117	T	.	.	.	-0.723562	0.00026	T	-0.804162	0.01801	T	0.00187586309304137	0.00019	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09045	B	.	.	-0.778509	0.01150	0.054	0.56985998092514478	0.05670	0.04011	0.09439	N	AEFGBHCI	0.241675	0.36325	N	-2.3493621597773	0.00035	0.001513355	-2.3987015562225	0.00039	0.001737205	0.999999999999984	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.99	-12.0	0.00013	-1.855000	0.01755	-8.347000	0.00985	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2677:0.4423:0.1244:0.1655	5.102	0.14098	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2146.98	40	chr2	21003040	.	C	T	2146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=1029;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-1.094e+00;SOR=0.675	GT:AD:DP:GQ:PL	0/1:101,80:181:99:2161,0,2663	20	0	1	0
chr2	21006737	21006737	C	T	exonic	APOB	.	synonymous SNV	APOB:NM_000384:exon26:c.G10131A:p.L3377L,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	1	1501	19	1	0	21	0.00694674	.	.	260633	Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|not_specified|Familial_hypercholesterolemia|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN169374|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	0.00339457	0.0061	0.0009	0.0055	0	0.0064	0.0077	0.0143	0.0058	0.0058667	907	154602	rs1799812	0.0071	0.0071	0.0071	0.0071	0.0095	0.0070	0.0070	0.0079	0.0078	0.0016	0.0041	0.0007	2.519e-05	0.0054	0.0095	0.0080	0.0074	0.0054	0.0056	0.0056	0.0057	0.0054	0.0093	0.0053	0.0051	0.0087	0.0084	0.0015	0	0.0046	0.0012	0	0.0048	0.0034	0.0093	0.0052	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	9565.98	37	chr2	21006737	.	C	T	9565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.244e+00;DP=1965;ExcessHet=0.0000;FS=1.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-3.200e-02;SOR=0.781	GT:AD:DP:GQ:PL	0/1:364,350:714:99:9580,0,10590	20	0	1	0
chr2	21007033	21007033	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.A9835G:p.S3279G,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	0	1455	64	3	0	70	0.0234899	.	.	215238	Hypercholesterolemia,_autosomal_dominant,_type_B|not_specified|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN169374|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.991	D	0.913	D	0.232	N	1.000	D	2.995	M	1.1	T	-0.676	T	0.159	T	0.029	1.334	10.38	3.41	0.579	3.329	11.412	0.264	.	0.0086	0.0071885	0.0044	0.0159	0.0067	0	0	0.0039	0.0121	0.0012	0.0044307	685	154602	rs12720854	0.0033	0.0033	0.0032	0.0033	0.0565	0.0032	0.0031	0.0515	0.0495	0.0184	0.0064	0.0102	0	0.0001	0.0565	0.0025	0.0065	0.0013	0.0076	0.0077	0.0076	0.0077	0.0170	0.0073	0.0071	0.0160	0.0156	0.0170	0	0.0103	0.0136	0.0002	0	0.0646	0.0029	0.0137	0.0010	0.015	0.52492	D	0.003	0.76473	D	.	.	.	.	.	.	0.232473	0.15889	N	0.611296	0.64386	0.30592	N	.	.	.	1.1	0.39050	T	-1.98	0.45769	N	0.246	0.27792	-0.6764	0.61538	T	0.159	0.49262	T	10	0.004425019	0.00090	T	.	.	.	0.264	0.57741	.	.	0.68203097115	0.67932	0.4890100810306947	0.48821	0.0491091118445	0.05371	0.247466355562	0.03505	T	.	.	.	-0.577868	0.00199	T	-0.589218	0.13734	T	0.0582436336760406	0.06889	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.	.	1.757170	0.22349	15.58	0.98647528733884859	0.44137	0.94699	0.62026	D	AEFBHCI	0.702324	0.65873	D	0.205179900652132	0.51449	3.326111	-0.00190597407924668	0.39631	2.352652	0.999990155919605	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.6	3.41	0.38145	3.427000	0.52552	0.098000	0.14610	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.120000	0.19168	0.0:0.0:0.1512:0.8488	11.412	0.49171	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.07143	34170.68	37	chr2	21007033	.	T	C	34170.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.423e+00;DP=3883;ExcessHet=0.3300;FS=0.520;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-6.800e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:366,440:806:99:11426,0,9826	18	0	3	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I,	Cystinuria, Autosomal recessive, Autosomal dominant	YES	1	171	630	720	0	2070	0.858209	.	.	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.78	T	0.001	B	0.001	B	0.120	N	1.000	P	1.095	L	-4.41	D	-0.903	T	0.000	T	0.046	0.686	7.667	-1.37	0.140	-0.163	2.100	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.8333	74868.88	116	chr2	44320435	.	G	A	74868.88	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-1.187e+00;DP=2972;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=25.99;ReadPosRankSum=0.083;SOR=0.687	GT:AD:DP:GQ:PL	1/1:0,159:159:99:5126,477,0	0	14	7	0
chr2	47806752	47806753	TT	-	intronic	MSH6	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	94983	Breast_and/or_ovarian_cancer|Lynch_syndrome_5|not_specified|not_provided	MedGen:CN221562|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1323	0.1439	0.1002	0.1406	0.1805	0.1444	0.1260	0.0985	0.0002305	6	26028	rs1491083972	0.0558	0.0746	0.0554	0.0562	0.0568	0.0555	0.0553	0.0554	0.0552	0.0568	0.0478	0.0707	0.0549	0.0678	0.0488	0.0558	0.0550	0.0492	0.0039	0.0046	0.0038	0.0039	0.0069	0.0036	0.0035	0.0049	0.0042	0.0027	0	0.0027	0.0024	0.0029	0.0042	0	0.0048	0.0026	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8839.08	81	chr2	47806751	.	CTT	C,CT	8839.08	.	AC=3,20;AF=0.071,0.476;AN=42;BaseQRankSum=-5.280e-01;DP=1860;ExcessHet=36.0830;FS=0.544;InbreedingCoeff=-0.8261;MLEAC=2,20;MLEAF=0.048,0.476;MQ=59.99;MQRankSum=0.00;QD=7.04;ReadPosRankSum=0.160;SOR=0.758	GT:AD:DP:GQ:PL	0/2:28,5,9:42:92:135,92,859,0,486,465	0	0	1	0
chr2	61826484	61826484	C	T	exonic	FAM161A	.	nonsynonymous SNV	FAM161A:NM_032180:exon6:c.G1954A:p.E652K	Retinitis pigmentosa 28	.	35	1486	1	0	0	1	0.000336361	.	.	177083	not_specified|not_provided|Retinitis_pigmentosa	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.673	P	0.461	P	0.839	U	0.955	D	0.805	L	2.52	T	-1.107	T	0.022	T	0.21	3.831	19.46	4.81	2.864	1.156	9.934	0.127	.	0.0047	0.00479233	0.0019	0.0200	0.0009	0	0	0	0	0	0.0014101	218	154602	rs77562614	0.0005	0.0005	0.0006	0.0004	0.0183	0.0005	0.0005	0.0171	0.0167	0.0183	0.0007	0	0	0	0.0009	6.309e-06	0.0009	8.18e-05	0.0050	0.0050	0.0053	0.0047	0.0178	0.0047	0.0046	0.0167	0.0163	0.0178	0	0.0011	0	0	0	0	0	0.0009	0.0002	0.027	0.48186	D	0.013	0.63109	D	0.666	0.41222	P	0.461	0.46460	P	0.839466	0.09045	U	0.794082	0.954521	0.37881	D	1.1	0.28011	L	2.52	0.26445	T	-1.2	0.30555	N	0.312	0.35194	-1.1075	0.03293	T	0.022	0.09421	T	10	0.0039268434	0.00075	T	.	.	.	0.127	0.34888	.	.	0.381916209588	0.37799	0.05158523472989893	0.05100	0.0395574204048	0.04223	0.401684582233	0.25304	T	0.002449	0.01845	T	-0.533101	0.00368	T	-0.523602	0.19931	T	0.0142939826660636	0.00284	T	0.586341	0.22604	T	0.15534613	0.35114	0.14521988	0.34449	0.17398553	0.38177	0.14388753	0.34178	-4.946	0.36248	T	.	.	0.076	0.05890	B	.;.	.;.	3.471788	0.48438	22.6	0.9960063160864816	0.74160	0.13263	0.17757	N	AEFGBI	0.085860	0.17407	N	-0.0585142513353373	0.39221	2.309572	-0.0111443966212453	0.39210	2.321438	0.070856996527915	0.15545	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.7	4.81	0.61401	1.300000	0.33040	3.747000	0.39671	0.571000	0.28931	0.203000	0.24344	1.000000	0.68203	0.674000	0.33367	0.0:0.9095:0.0:0.0905	9.934	0.40711	204	0.92044	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	947.98	34	chr2	61826484	.	C	T	947.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.069;DP=791;ExcessHet=0.0000;FS=5.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-4.010e-01;SOR=0.964	GT:AD:DP:GQ:PL	0/1:42,41:83:99:962,0,994	20	0	1	0
chr2	69326244	69326245	AA	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	20	58	78	59	11	207	0.628205	.	.	287070	Congenital_Myasthenic_Syndrome,_Recessive|Congenital_myasthenic_syndrome_12|not_provided	MedGen:CN239337|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0895	0.1623	0.0441	0.2283	0.0324	0.0560	0.0745	0.1540	0.0003842	10	26028	rs201268947	0.0369	0.0687	0.0349	0.0389	0.1957	0.0366	0.0365	0.1919	0.1903	0.1245	0.0257	0.0432	0.1957	0.0199	0.0296	0.0216	0.0478	0.1207	0.0320	0.0320	0.0303	0.0338	0.1935	0.0312	0.0309	0.1832	0.1790	0.0674	0	0.0143	0.0117	0.1935	0.0014	0.0112	0.0030	0.0297	0.1004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	14896.37	76	chr2	69326243	.	GAA	GA,G,GAAA	14896.37	.	AC=23,2,1;AF=0.548,0.048,0.024;AN=42;BaseQRankSum=-8.000e-03;DP=1288;ExcessHet=10.5502;FS=0.000;InbreedingCoeff=-0.3473;MLEAC=22,2,1;MLEAF=0.524,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.00;SOR=0.666	GT:AD:DP:GQ:PL	0/1:27,16,2,0:45:99:310,0,579,324,648,1224,386,680,1142,1152	1	5	12	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	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1934.59	4	chr2	113062899	.	T	C	1934.59	.	AC=26;AF=0.722;AN=36;BaseQRankSum=-6.740e-01;DP=101;ExcessHet=0.0192;FS=2.320;InbreedingCoeff=0.2694;MLEAC=28;MLEAF=0.778;MQ=60.00;MQRankSum=0.00;QD=33.36;ReadPosRankSum=0.00;SOR=0.205	GT:AD:DP:GQ:PL	1/1:0,4:4:12:163,12,0	3	11	4	3
chr2	113062953	113062953	A	G	UTR3	IL36RN	NM_173170:c.*276A>G;NM_012275:c.*276A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	.	1089	122	46	265	0	576	0.702439	.	.	283793	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.64154	16698	26028	rs1800930	0.6402	0.5794	0.6263	0.6522	0.7949	0.6378	0.6368	0.7880	0.7851	0.7003	0.6800	0.6607	0.7105	0.5871	0.7339	0.5921	0.6385	0.7949	0.6528	0.6527	0.6496	0.6560	0.8014	0.6494	0.6480	0.7803	0.7717	0.7079	0.7577	0.6634	0.6885	0.7078	0.6301	0.7381	0.6008	0.6883	0.8014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7727	904.29	3	chr2	113062953	.	A	G	904.29	.	AC=17;AF=0.773;AN=22;BaseQRankSum=-9.670e-01;DP=70;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3944;MLEAC=24;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=26.02;ReadPosRankSum=0.00;SOR=0.495	GT:AD:DP:GQ:PL	1/1:0,2:2:6:84,6,0	2	8	1	10
chr2	113063237	113063237	C	G	UTR3	IL36RN	NM_173170:c.*560C>G;NM_012275:c.*560C>G	.	.	Psoriasis 14, pustular, Autosomal recessive	.	1358	52	16	96	0	208	0.666667	.	.	283621	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs2472188	0.6442	0.2093	0.6229	0.6642	0.8136	0.6347	0.6308	0.7836	0.7715	0.7306	0.7069	0.6489	0.6812	0.5876	0.7857	0.5765	0.6300	0.8136	0.6525	0.6525	0.6495	0.6556	0.8015	0.6491	0.6477	0.7804	0.7718	0.7072	0.7582	0.6636	0.6882	0.7068	0.6303	0.7381	0.6007	0.6873	0.8015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	278.85	47	chr2	113063237	.	C	G	278.85	.	AC=10;AF=0.714;AN=14;DP=47;ExcessHet=0.0000;FS=0.000;MLEAC=17;MLEAF=1.00;MQ=60.00;QD=27.89;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	5	0	14
chr2	113132707	113132707	G	A	exonic	IL1RN	.	nonsynonymous SNV	IL1RN:NM_173842:exon4:c.G370A:p.A124T	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	.	0	1505	17	0	0	17	0.00561612	.	.	448759	IL1RN-related_disorder|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	.	.	.	.	.	.	.	.	0.4	T	0.019	B	0.019	B	0.009	N	1.000	N	-1.23	N	3.02	T	-0.937	T	0.004	T	0.108	-0.636	1.189	-0.802	-0.748	-0.271	6.543	0.029	.	0.0009	0.00479233	0.0030	0.0011	0.0007	0.0143	0	0.0009	0.0033	0.0094	0.0026326	407	154602	rs45507693	0.0014	0.0014	0.0012	0.0016	0.0123	0.0013	0.0013	0.0100	0.0095	0.0009	0.0007	0.0047	0.0107	0	0.0123	0.0004	0.0030	0.0081	0.0013	0.0013	0.0011	0.0014	0.0106	0.0011	0.0011	0.0084	0.0076	0.0008	0	0.0010	0.0052	0.0106	0	0.0068	0.0005	0.0028	0.0066	1.0	0.00964	T	1.0	0.01155	T	0.002	0.15914	B	0.006	0.18783	B	0.008667	0.30726	N	0.390178	0.999912	0.19599	N	-1.63	0.00401	N	3.02	0.08986	T	2.52	0.00229	N	0.05	0.02179	-0.9366	0.43149	T	0.004	0.01400	T	10	0.008407414	0.00191	T	.	.	.	0.029	0.06676	.	.	0.242825505644	0.23883	0.5592029854060361	0.55847	0.0529077588486	0.05834	0.289524585009	0.08853	T	0.125073	0.45053	T	-0.703256	0.00035	T	-0.769981	0.02768	T	1.88654503290309e-05	0.00000	T	0.157184	0.01392	T	0.075816624	0.17107	0.05437313	0.09340	0.113247275	0.26747	0.058866408	0.10952	-0.639	0.01064	T	0.039757481599584636	0.00332	0.061	0.02733	B	.;.;.;.;.	.;.;.;.;.	-0.273803	0.02735	0.363	0.59931702614615556	0.06341	0.01521	0.05017	N	AEFBI	0.066869	0.13117	N	-1.64792111267281	0.01044	0.04527927	-1.48801726331597	0.02442	0.1123296	0.991469403513662	0.32498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.8	-0.802	0.10340	-0.103000	0.10909	-0.086000	0.12117	-1.234000	0.01323	0.303000	0.25352	0.000000	0.08366	0.041000	0.14368	0.5105:0.0:0.3735:0.116	6.543	0.21588	591	0.68823	.;.;.;.;.	.	.	.	.	.	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	0.02381	1608.98	42	chr2	113132707	.	G	A	1608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=823;ExcessHet=0.0000;FS=1.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-1.673e+00;SOR=0.847	GT:AD:DP:GQ:PL	0/1:60,63:123:99:1623,0,1404	20	0	1	0
chr2	173239483	173239483	G	A	exonic	MAP3K20	.	nonsynonymous SNV	MAP3K20:NM_016653:exon16:c.G1346A:p.G449E,	Split-foot malformation with mesoaxial polydactyly, Autosomal recessive	.	435	1081	6	0	0	6	0.00276753	.	.	732943	not_provided|MAP3K20-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.618	P	0.142	B	0.000	D	1.000	D	1.04	L	-1.16	T	-0.470	T	0.284	T	0.505	2.854	15.51	4.57	1.423	6.256	14.498	0.401	0.0592100354921	0.0008	0.000199681	0.0006	0	0.0007	0	0	0.0010	0.0023	0	0.0006209	96	154602	rs201693932	0.0006	0.0006	0.0006	0.0006	0.0078	0.0006	0.0006	0.0060	0.0054	0.0003	0.0009	0.0081	0	0	0.0078	0.0004	0.0014	7.021e-05	0.0006	0.0006	0.0005	0.0006	0.0010	0.0005	0.0004	0.0007	0.0005	0.0002	0	0.0010	0.0084	0	0	0	0.0004	0.0014	0.0002	0.001	0.78490	D	0.008	0.67890	D	0.618	0.39878	P	0.142	0.33681	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	-1.16	0.78082	T	-2.58	0.55662	D	0.408	0.44857	-0.4698	0.69732	T	0.284	0.65596	T	10	0.00909394	0.00206	T	0.05921	0.67586	D	0.401	0.71479	.	.	0.551961605406	0.54854	0.38818921169999204	0.38733	0.0977657556297	0.11029	0.774240851402	0.78060	T	0.119179	0.44052	T	-0.183627	0.23198	T	-0.109349	0.62664	T	0.0563246215232021	0.06577	T	0.813219	0.46599	T	0.5986215	0.72617	0.6721372	0.80758	0.5986215	0.72618	0.6721372	0.80759	-4.176	0.26403	T	.	.	0.684	0.72898	P	.;.	.;.	3.722095	0.53200	23.3	0.99152841760859378	0.53875	0.92419	0.55668	D	AEFBCI	0.772385	0.70672	D	0.209439392276359	0.51656	3.34518	0.321019200905475	0.56778	3.841552	0.999999971273423	0.74766	0.646311	0.45356	0	0.378119	0.05977	1	0.602189	0.34648	0	0.699875	0.68795	0	.	.	5.45	4.57	0.55860	6.360000	0.73005	7.516000	0.59690	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0707:0.0:0.9293:0.0	14.498	0.67286	869	0.31655	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1585.98	36	chr2	173239483	.	G	A	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=855;ExcessHet=0.0000;FS=1.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.942;SOR=0.660	GT:AD:DP:GQ:PL	0/1:74,66:140:99:1600,0,1756	20	0	1	0
chr2	178431939	178431939	T	C	ncRNA_intronic	CHROMR	.	.	.	.	.	60	1169	290	3	0	296	0.112377	.	.	283886	not_provided|Dystonia_16	MedGen:C3661900|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122138	3179	26028	rs3997877	0.2943	0.2403	0.3023	0.2867	0.3147	0.2932	0.2928	0.3134	0.3128	0.1778	0.2978	0.2815	0.3023	0.2193	0.2375	0.3147	0.2731	0.2033	0.2253	0.2283	0.2273	0.2233	0.2781	0.2233	0.2225	0.2660	0.2612	0.1598	0.3223	0.2653	0.2686	0.2781	0.2030	0.2021	0.2530	0.2250	0.2176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	1605.57	12	chr2	178431939	.	T	C	1605.57	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-2.690e-01;DP=295;ExcessHet=2.5830;FS=8.898;InbreedingCoeff=-0.2415;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=7.99;ReadPosRankSum=-2.450e-01;SOR=1.381	GT:AD:DP:GQ:PL	0/1:8,4:12:99:114,0,254	13	0	7	1
chr2	178461008	178461008	C	T	exonic	PJVK	.	nonsynonymous SNV	PJVK:NM_001353776:exon6:c.C799T:p.R267C	.	.	0	1161	119	13	229	374	0.0587758	.	.	53040	not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_59	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012445,MedGen:C1857744,OMIM:610220,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.988	D	0.679	P	0.000	U	0.926	D	0.895	L	0.17	T	-0.993	T	0.016	T	0.141	4.247	22.1	6.04	2.873	2.135	14.394	0.235	.	0.0631	0.028754	0.0580	0.0119	0.0384	0.0001	0.0753	0.0824	0.0644	0.0231	0.0547923	8471	154602	rs17304212	0.0713	0.0714	0.0724	0.0703	0.0815	0.0710	0.0708	0.0811	0.0809	0.0106	0.0417	0.0512	0.0001	0.0739	0.0531	0.0815	0.0631	0.0233	0.0545	0.0545	0.0555	0.0534	0.0833	0.0535	0.0531	0.0815	0.0807	0.0143	0.0548	0.0524	0.0522	0.0006	0.0745	0.0238	0.0833	0.0501	0.0205	0.005	0.63226	D	0.052	0.47581	T	0.988	0.62325	D	0.679	0.53442	P	0.000358	0.45440	U	0.089808	0.926253	0.36829	D	0.69	0.16971	N	0.17	0.60485	T	-0.67	0.19297	N	0.22	0.24634	-0.9928	0.31880	T	0.016	0.06473	T	10	0.0028128922	0.00044	T	.	.	.	0.235	0.53788	.	.	.	.	0.4432695074346097	0.44244	0.502497821918	0.48607	0.325919628143	0.14317	T	0.070157	0.33889	T	-0.503671	0.00545	T	-0.434577	0.29416	T	0.0152478500945219	0.00335	T	0.827017	0.49049	T	0.107861176	0.25505	0.054622885	0.09429	0.107148804	0.25336	0.06746118	0.13960	-4.784	0.34404	T	0.27187868743608723	0.36562	0.122	0.37293	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.073661	0.84639	28.4	0.99891420028298228	0.96513	0.96357	0.68743	D	AEFI	0.573929	0.57692	D	0.488531693280481	0.66418	4.94768	0.560315800465855	0.72118	5.759705	0.978132306747711	0.29890	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	6.04	6.04	0.98025	2.203000	0.42387	.	.	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.2446:0.7554:0.0:0.0	14.394	0.66568	320	0.86992	.;.;.;.;.;.;.;.	FKBP7|FKBP7|FKBP7|PLEKHA3|FKBP7|RBM45|DFNB59	Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Kidney_Cortex|Testis	DFNB59	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.119	9250.62	36	chr2	178461008	.	C	T,G	9250.62	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=0.414;DP=1365;ExcessHet=1.1607;FS=3.375;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.595;SOR=0.490	GT:AD:DP:GQ:PL	0/1:66,77,0:143:99:2109,0,1624,2307,1855,4162	16	0	4	0
chr2	178461008	178461008	C	G	exonic	PJVK	.	nonsynonymous SNV	PJVK:NM_001353776:exon6:c.C799G:p.R267G	.	.	0	1161	119	13	229	374	0.0587758	.	.	53039	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_59	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012445,MedGen:C1857744,OMIM:610220,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.268	B	0.074	B	0.000	U	0.966	N	0.895	L	0.21	T	-1.073	T	0.014	T	0.369	2.893	15.64	6.04	2.873	2.135	14.394	0.176	.	.	0.0393371	0.0553	0.0391	0.0314	0.0049	0.0783	0.0665	0.0667	0.0532	0.0519463	8031	154602	rs17304212	0.0653	0.0654	0.0653	0.0653	0.0700	0.0649	0.0648	0.0696	0.0694	0.0385	0.0339	0.0512	0.0082	0.0791	0.0626	0.0700	0.0614	0.0565	0.0558	0.0558	0.0556	0.0559	0.0682	0.0548	0.0544	0.0666	0.0659	0.0400	0.0099	0.0433	0.0510	0.0044	0.0865	0.0544	0.0682	0.0610	0.0542	0.035	0.43708	D	0.212	0.26549	T	0.268	0.31720	B	0.074	0.28220	B	0.000358	0.45440	U	0.089808	0.965609	0.25931	N	0.69	0.16971	N	0.21	0.59983	T	0.38	0.03579	N	0.203	0.22486	-1.0725	0.08873	T	0.014	0.05705	T	10	0.0028193295	0.00045	T	.	.	.	0.176	0.44373	.	.	.	.	0.408683402898632	0.40784	0.209859520089	0.23458	0.286527961493	0.08419	T	0.047728	0.27809	T	-0.418119	0.01759	T	-0.322324	0.42320	T	0.010165578161089	0.00137	T	0.811219	0.46271	T	0.11662337	0.27505	0.11295493	0.27256	0.10953706	0.25895	0.12079491	0.29148	-3.401	0.15070	T	0.14916472889405896	0.17422	0.096	0.25914	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.258701	0.44559	22.0	0.99623633323306127	0.75594	0.96974	0.71966	D	AEFI	0.604832	0.59578	D	0.0824565520564724	0.45644	2.81763	0.272322233914736	0.53928	3.559673	0.978132306747711	0.29890	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	6.04	6.04	0.98025	2.203000	0.42387	.	.	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.2446:0.7554:0.0:0.0	14.394	0.66568	320	0.86992	.;.;.;.;.;.;.;.	.	.	.	.	rs17304212	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.119	9250.62	36	chr2	178461008	.	C	T,G	9250.62	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=0.414;DP=1365;ExcessHet=1.1607;FS=3.375;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=13.12;ReadPosRankSum=0.595;SOR=0.490	GT:AD:DP:GQ:PL	0/1:66,77,0:143:99:2109,0,1624,2307,1855,4162	16	0	4	0
chr2	178575481	178575481	G	A	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon154:c.C43456T:p.L14486L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1508	14	0	0	14	0.00462046	.	.	102194	Tibial_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_provided|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	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|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0.0001	0.0002	0	0	0.0003	0.0011	0.0002	0.0002199	34	154602	rs72646889	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0028	8.965e-05	6.709e-05	3.828e-05	0	0	0.0047	0.0002	0.0004	0.0006	0.0001	0.0001	0.0002	0.0001	0.0006	9.145e-05	7.701e-05	0.0002	9e-05	4.81e-05	0	0.0002	0	0	0	0	0.0001	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2054.98	112	chr2	178575481	.	G	A	2054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.65;DP=1348;ExcessHet=0.0000;FS=4.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=0.198;SOR=0.678	GT:AD:DP:GQ:PL	0/1:83,71:154:99:2069,0,2234	20	0	1	0
chr2	178618036	178618036	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon81:c.G20120A:p.R6707Q	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	1	1490	30	1	0	32	0.0106242	.	.	56175	not_specified|Tibial_muscular_dystrophy|Atrial_fibrillation|Primary_dilated_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.574	P	0.195	B	.	.	1.000	D	1.045	L	0.44	T	-0.905	T	0.094	T	0.318	1.514	11.01	4.85	1.560	3.740	15.227	0.113	0.032528423721	0.0034	0.00139776	0.0030	0.0008	0.0011	0	0.0005	0.0047	0.0078	0.0012	0.002956	457	154602	rs72677233	0.0028	0.0028	0.0027	0.0028	0.0123	0.0027	0.0027	0.0100	0.0092	0.0010	0.0019	0.0338	2.534e-05	0.0003	0.0123	0.0022	0.0048	0.0018	0.0029	0.0029	0.0030	0.0028	0.0065	0.0027	0.0026	0.0055	0.0051	0.0003	0	0.0065	0.0268	0	0.0003	0.0102	0.0029	0.0090	0.0025	0.041	0.41915	D	.	.	.	0.574	0.38693	P	0.195	0.36592	B	.	.	.	.	0.982686	0.40539	D	1.19	0.30124	L	0.44	0.56609	T	-2.48	0.57435	N	0.357	0.57177	-0.9047	0.47481	T	0.094	0.35658	T	9	0.005768299	0.00129	T	0.032528	0.54329	D	0.113	0.31778	.	.	0.17948927462	0.17512	.	.	0.150698551403	0.16997	0.373202860355	0.21290	T	.	.	.	-0.424277	0.01607	T	-0.385272	0.35105	T	0.0160674029560302	0.00385	T	0.889111	0.62289	D	.	.	.	.	.	.	.	.	-5.769	0.47923	T	.	.	0.171	0.37482	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.551671	0.33031	19.22	0.93038762856172696	0.22643	0.83396	0.42516	D	AEFBI	0.432529	0.49437	N	-0.0607603011833923	0.39122	2.302131	0.0403537369006014	0.41609	2.502593	0.999961319595874	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.73	4.85	0.62375	2.993000	0.49114	.	.	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.704000	0.34264	0.0:0.9323:0.0:0.0677	15.227	0.73050	433	0.80627	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2933.98	33	chr2	178618036	.	C	T	2933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=935;ExcessHet=0.0000;FS=1.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-1.440e-01;SOR=0.812	GT:AD:DP:GQ:PL	0/1:117,109:226:99:2948,0,3025	20	0	1	0
chr2	178647041	178647044	TATA	-	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	.	13	40	104	7	62	180	0.59596	.	.	189623	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0482	0.1273	0.1042	0.0096	0.0474	0.0241	0	0.0491	0.0016235	251	154602	rs1459735441	0.0244	0.0273	0.0245	0.0244	0.0813	0.0241	0.0239	0.0771	0.0754	0.0813	0.0606	0.0341	0.0286	0.0250	0.0346	0.0212	0.0322	0.0376	0.0001	0.0008	0.0001	0.0002	0.0005	9.801e-05	8.172e-05	9.488e-05	5.662e-05	7.556e-05	0	0.0003	0	0	0.0009	0	3.086e-05	0.0010	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5500.35	31	chr2	178647040	.	GTATA	GTA,G,GTATATA	5500.35	.	AC=17,2,4;AF=0.405,0.048,0.095;AN=42;BaseQRankSum=0.672;DP=552;ExcessHet=21.3848;FS=6.022;InbreedingCoeff=-0.6389;MLEAC=17,2,4;MLEAF=0.405,0.048,0.095;MQ=59.99;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-3.040e-01;SOR=1.127	GT:AD:DP:GQ:PL	0/1:10,9,0,0:21:99:263,0,296,312,344,725,312,344,725,725	1	0	14	0
chr2	178650195	178650195	T	C	exonic	TTN	.	synonymous SNV	TTN:NM_133378:exon164:c.A32484G:p.E10828E	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	.	2	1516	4	0	0	4	0.00131752	.	.	102179	not_provided|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	N	.	.	.	.	-1.006	T	0.074	T	.	0.777	8.101	0.002	0.095	0.941	6.378	0.013	.	.	.	0.0002	0	0	0	0	0.0003	0.0026	0.0001	6.47e-05	10	154602	rs398124450	7.35e-05	7.251e-05	5.916e-05	8.807e-05	0.0016	6.198e-05	5.777e-05	0.0008	0.0006	0	0	0	0	0	0.0016	5.812e-05	0.0001	0.0003	2.629e-05	2.627e-05	2.57e-05	2.692e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	0.02381	941.98	33	chr2	178650195	.	T	C	941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.044e+00;DP=783;ExcessHet=0.0000;FS=1.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-1.445e+00;SOR=0.802	GT:AD:DP:GQ:PL	0/1:46,35:81:99:956,0,1289	20	0	1	0
chr2	178711105	178711105	G	A	exonic	TTN	.	synonymous SNV	TTN:NM_133378:exon94:c.C24399T:p.N8133N	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1506	15	0	0	15	0.0049554	.	.	102170	Tibial_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	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:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000199681	0.0004	0.0003	0.0003	0	0.0005	0.0005	0.0023	0.0005	0.0003752	58	154602	rs72648997	0.0003	0.0003	0.0003	0.0003	0.0047	0.0003	0.0003	0.0033	0.0028	0.0001	6.71e-05	3.832e-05	0	0.0001	0.0047	0.0002	0.0004	0.0009	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	0.0001	0	0.0003	0	0	9.416e-05	0	0.0003	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	0.02381	1938.98	33	chr2	178711105	.	G	A	1938.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=803;ExcessHet=0.0000;FS=2.335;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.76;ReadPosRankSum=0.454;SOR=0.930	GT:AD:DP:GQ:PL	0/1:54,69:123:99:1953,0,1383	20	0	1	0
chr2	178729380	178729380	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon61:c.C15044G:p.T5015S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1489	32	0	0	32	0.0106312	.	.	55809	Tibial_muscular_dystrophy|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Arrhythmogenic_right_ventricular_cardiomyopathy|Atrial_fibrillation|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	1.000	D	0.31	N	-0.14	T	-1.025	T	0.112	T	0.158	1.003	9.094	3.03	0.349	1.571	4.760	0.065	0.0101612963571	0.0034	0.000599042	0.0030	0.0008	0.0010	0	0.0005	0.0048	0.0067	0.0008	0.0029042	449	154602	rs72648949	0.0028	0.0028	0.0027	0.0028	0.0129	0.0027	0.0027	0.0105	0.0096	0.0010	0.0014	0.0344	0	0.0004	0.0129	0.0023	0.0047	0.0013	0.0026	0.0026	0.0028	0.0024	0.0039	0.0024	0.0023	0.0031	0.0028	0.0003	0	0.0039	0.0277	0	0.0005	0.0102	0.0030	0.0062	0.0015	0.572	0.06145	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	-0.14	0.65006	T	-1.27	0.31981	N	0.196	0.22486	-1.0253	0.21985	T	0.112	0.40099	T	9	0.0057101846	0.00127	T	0.010161	0.26368	T	0.065	0.18881	0.409	0.44395	0.139678290688	0.13603	.	.	0.0753460736105	0.08448	0.339321732521	0.16337	T	.	.	.	-0.469353	0.00858	T	-0.45002	0.27695	T	0.00495222478460801	0.00053	T	0.361564	0.11199	T	.	.	.	.	.	.	.	.	-2.424	0.05282	T	.	.	0.076	0.05890	B	.;.;.;.	.;.;.;.	1.283339	0.16833	12.79	0.78433591167916983	0.12299	0.87265	0.46752	D	AEFBI	0.559547	0.56832	D	-0.37346291618185	0.26418	1.441649	-0.204710376662953	0.31366	1.774468	0.937735070618592	0.27311	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.92	3.03	0.34070	1.608000	0.36458	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	0.0671:0.2164:0.4546:0.2618	4.760	0.12476	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1978.98	46	chr2	178729380	.	G	C	1978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.70;DP=939;ExcessHet=0.0000;FS=1.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.278;SOR=0.687	GT:AD:DP:GQ:PL	0/1:89,74:163:99:1993,0,2380	20	0	1	0
chr2	210674926	210674926	G	A	exonic	CPS1	.	nonsynonymous SNV	CPS1:NM_001875:exon35:c.G4126A:p.G1376S	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	.	2	1465	54	1	0	56	0.0187542	.	.	250541	not_specified|Congenital_hyperammonemia,_type_I	MedGen:CN169374|MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.007	B	0.007	B	0.000	D	0.992	D	1.01	L	-1.38	T	-0.640	T	0.209	T	0.129	2.713	15.03	5.88	2.785	3.682	13.635	0.275	.	0.0124	0.00858626	0.0118	0.0025	0.0093	0.0001	0.0286	0.0154	0.0132	0.0040	0.0117139	1811	154602	rs140578009	0.0137	0.0138	0.0139	0.0136	0.0361	0.0136	0.0135	0.0321	0.0306	0.0026	0.0125	0.0304	0	0.0315	0.0361	0.0139	0.0147	0.0047	0.0127	0.0127	0.0123	0.0132	0.0158	0.0123	0.0121	0.0148	0.0145	0.0029	0	0.0158	0.0354	0.0004	0.0293	0.0306	0.0156	0.0170	0.0066	0.186	0.21718	T	0.239	0.24549	T	0.007	0.14184	B	0.007	0.12992	B	0.000020	0.62929	D	0.152798	0.992015	0.41532	D	0.57	0.15267	N	-1.38	0.80301	T	0.64	0.03700	N	0.074	0.15328	-0.6396	0.63163	T	0.209	0.56906	T	10	0.0067127645	0.00152	T	.	.	.	0.275	0.59130	.	.	.	.	0.5109632582465843	0.51018	0.228393132043	0.25393	0.5513048172	0.46041	T	0.199378	0.55664	T	-0.413123	0.01895	T	-0.353875	0.38760	T	0.00900897680750622	0.00113	T	0.876112	0.58827	D	0.39811295	0.60602	0.26776072	0.52637	0.4768801	0.65711	0.28978842	0.54999	-2.27	0.04394	T	0.07785063288247268	0.03686	0.088	0.14751	B	.;.;.	.;.;.	3.624166	0.51305	23.1	0.98520049521378783	0.42459	0.88124	0.47915	D	AEFBCI	0.854814	0.77187	D	0.0362871392205133	0.43511	2.642715	0.247760559247659	0.52523	3.426527	0.183598997059683	0.17905	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.567892	0.33627	0	.	.	5.88	5.88	0.94564	4.383000	0.59366	11.897000	0.99249	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0732:0.0:0.9268:0.0	13.635	0.61689	476	0.77720	.;Methylglyoxal synthase-like domain|Methylglyoxal synthase-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.07143	4060.68	33	chr2	210674926	.	G	A	4060.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.035;DP=954;ExcessHet=0.3300;FS=0.831;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.320;SOR=0.767	GT:AD:DP:GQ:PL	0/1:68,61:129:99:1479,0,1649	18	0	3	0
chr2	214792459	214792460	AA	-	intronic	BARD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	285273	Hereditary_cancer-predisposing_syndrome|Breast_neoplasm|not_provided|not_specified	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1322	0.1276	0.1831	0.0588	0.0921	0.1364	0.1358	0.1276	0.0001153	3	26028	rs747897450	0.0862	0.0980	0.0861	0.0862	0.1229	0.0857	0.0856	0.1192	0.1176	0.0813	0.1229	0.0925	0.0282	0.0637	0.1003	0.0873	0.0914	0.0932	0.0618	0.0596	0.0612	0.0624	0.0948	0.0607	0.0602	0.0904	0.0887	0.0529	0.0078	0.0948	0.0589	0.0009	0.0571	0.0720	0.0659	0.0656	0.0521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	1431.23	10	chr2	214792458	.	TAA	TA,T	1431.23	.	AC=8,6;AF=0.250,0.188;AN=32;BaseQRankSum=0.718;DP=282;ExcessHet=0.8727;FS=0.762;InbreedingCoeff=-0.1143;MLEAC=10,6;MLEAF=0.313,0.188;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=1.01;SOR=0.793	GT:AD:DP:GQ:PL	1/1:0,7,0:7:21:172,21,0,172,21,172	5	1	6	5
chr2	215052509	215052509	G	A	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_173076:exon5:c.C485T:p.A162V,	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	.	1	1512	8	1	0	10	0.00329598	.	.	237268	Congenital_ichthyosis_of_skin|ABCA12-related_disorder|not_specified|not_provided	MedGen:C0020758|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	0.047	B	0.016	B	0.867	N	0.927	N	0	N	-2.39	D	-0.611	T	0.426	T	0.247	2.017	12.70	3.66	2.657	1.294	11.217	0.150	0.0318633706881	0.0013	.	0.0014	0.0003	0.0014	0	0.0005	0.0019	0	0.0015	0.0013971	216	154602	rs149399707	0.0016	0.0016	0.0016	0.0016	0.0018	0.0015	0.0015	0.0017	0.0017	8.982e-05	0.0011	0	0	0.0003	0.0012	0.0018	0.0015	0.0016	0.0012	0.0012	0.0014	0.0010	0.0022	0.0011	0.0010	0.0019	0.0018	0.0002	0	0.0016	0	0	9.436e-05	0	0.0022	0.0005	0.0008	0.162	0.23541	T	0.093	0.39799	T	0.047	0.21998	B	0.016	0.17743	B	0.866559	0.08856	N	0.934548	1	0.08975	N	0.69	0.16971	N	-2.39	0.88377	D	-0.5	0.15782	N	0.387	0.42834	-0.6110	0.64362	T	0.426	0.76930	T	10	0.013969272	0.00295	T	0.031863	0.53843	D	0.150	0.39571	.	.	0.694820110243	0.69219	0.35602791091231367	0.35516	0.193823953599	0.21719	0.326494276524	0.14404	T	0.078328	0.35865	T	-0.348238	0.04839	T	-0.278854	0.46921	T	0.0106047394186227	0.00148	T	0.746125	0.36682	T	0.06397504	0.13525	0.103321336	0.24786	0.0752097	0.16929	0.09846268	0.23476	-4.29	0.28037	T	.	.	0.117	0.23640	B	.	.	2.002179	0.25439	16.76	0.98784209932930445	0.46175	0.26493	0.23009	N	AEFDGBIJ	0.065318	0.12733	N	-0.415398532101686	0.24928	1.349595	-0.248536800068874	0.29821	1.673956	0.993275159844092	0.33152	0.594549	0.33734	0	0.486142	0.07564	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	3.66	0.41111	1.318000	0.33249	2.425000	0.32705	0.676000	0.76740	0.209000	0.24412	0.064000	0.22093	0.954000	0.50415	0.0:0.0:0.7363:0.2637	11.217	0.48062	812	0.42537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1221.98	39	chr2	215052509	.	G	A	1221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=820;ExcessHet=0.0000;FS=2.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-3.260e-01;SOR=0.922	GT:AD:DP:GQ:PL	0/1:79,50:129:99:1236,0,2048	20	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	29369.66	106	chr2	233681881	.	T	G	29369.66	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.495e+00;DP=2097;ExcessHet=5.3459;FS=0.570;InbreedingCoeff=-0.2381;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=0.162;SOR=0.757	GT:AD:DP:GQ:PL	0/1:48,59:107:99:1443,0,1422	4	4	13	0
chr2	237347797	237347797	G	A	intronic	COL6A3	.	.	.	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	0	1513	9	0	0	9	0.0029654	.	.	286080	Collagen_6-related_myopathy|not_specified|not_provided|Bethlem_myopathy_1A	MONDO:MONDO:0100225,MedGen:CN117976|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000199681	0.0004	0.0008	0.0001	0	0	0.0001	0	0.0014	0.0002135	33	154602	rs376525317	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0008	0.0007	0.0004	9.093e-05	0.0009	0.0001	0	0.0009	5.231e-05	9.97e-05	0.0009	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0005	0.0004	0.0006	0	0	0.0006	0.0002	0	0	7.35e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1142.98	34	chr2	237347797	.	G	A	1142.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.750e-01;DP=797;ExcessHet=0.0000;FS=2.713;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-2.690e-01;SOR=0.946	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1157,0,1166	20	0	1	0
chr3	10064724	10064724	C	T	intronic	FANCD2	.	.	.	Fanconi anemia, complementation group D2, Autosomal recessive	.	0	1353	169	0	0	169	0.0587826	0	0.002	215265	not_specified|Fanconi_anemia|Fanconi_anemia_complementation_group_A|Hereditary_breast_ovarian_cancer_syndrome|not_provided|Fanconi_anemia_complementation_group_D2	MedGen:CN169374|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0063	0.0008	0.0058	0.0009	0.0020	0.0022	0.0013	5.82e-05	9	154602	rs4019784	0.0006	0.0104	0.0006	0.0006	0.0171	0.0006	0.0006	0.0141	0.0130	0.0010	0.0002	0.0004	0.0028	0.0031	0.0171	0.0003	0.0011	0.0006	0.0021	0.0255	0.0020	0.0022	0.0034	0.0019	0.0018	0.0029	0.0027	0.0034	0.0012	0.0025	0.0013	0.0032	0.0020	0	0.0012	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	310.62	93	chr3	10064724	.	C	T	310.62	.	AC=5;AF=0.125;AN=40;BaseQRankSum=3.12;DP=1039;ExcessHet=1.1607;FS=12.705;InbreedingCoeff=-0.1383;MLEAC=4;MLEAF=0.100;MQ=57.57;MQRankSum=-7.904e+00;QD=0.88;ReadPosRankSum=-7.760e-01;SOR=1.641	GT:AD:DP:GQ:PL	0/1:59,5:64:4:4,0,1784	15	0	5	1
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	7075.96	9	chr3	27721936	.	G	GCGGCGC,GCGC	7075.96	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-5.120e-01;DP=481;ExcessHet=3.4384;FS=3.062;InbreedingCoeff=-0.1455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=22.18;ReadPosRankSum=-4.110e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:4,5,0:9:99:194,0,103,206,118,324	5	3	12	0
chr3	50343823	50343823	C	T	exonic	ZMYND10	.	nonsynonymous SNV	ZMYND10:NM_001308379:exon3:c.G229A:p.A77T	Ciliary dyskinesia, primary, 22, Autosomal recessive	.	426	1089	7	0	0	7	0.00320366	.	.	393851	Primary_ciliary_dyskinesia_22|ZMYND10-related_disorder|Primary_ciliary_dyskinesia	MONDO:MONDO:0014192,MedGen:C3809543,OMIM:615444,Orphanet:244|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.005	B	0.003	B	0.368	N	1.000	N	1.245	L	1.58	T	-1.034	T	0.045	T	0.391	2.108	13.00	-3.87	-0.564	0.150	6.740	0.037	0.00712706899412	0.0008	0.000599042	0.0012	0.0004	0.0008	0	0	0.0016	0	0.0011	0.0012484	193	154602	rs146847253	0.0018	0.0018	0.0018	0.0017	0.0038	0.0017	0.0017	0.0026	0.0022	0.0003	0.0006	0	2.519e-05	1.872e-05	0.0038	0.0021	0.0016	0.0011	0.0013	0.0013	0.0013	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0004	0.0011	0.0019	0	0	0	0.0102	0.0020	0.0019	0.0010	0.338	0.13088	T	0.44	0.13872	T	0.005	0.12996	B	0.002	0.08700	B	0.368104	0.13569	N	0.749043	1	0.08975	N	0.605	0.15622	N	1.58	0.29085	T	-0.59	0.20358	N	0.331	0.37197	-1.0344	0.19046	T	0.045	0.19152	T	10	0.011636406	0.00253	T	0.007127	0.18896	T	0.037	0.09474	.	.	0.156986980423	0.15292	0.09890056742996664	0.09821	0.154575907448	0.17459	0.263797461987	0.05351	T	0.101597	0.40851	T	-0.510755	0.00497	T	-0.513225	0.20984	T	0.00220077275298536	0.00023	T	0.673733	0.29515	T	0.03614178	0.04390	0.05513085	0.09615	0.03614178	0.04390	0.05513085	0.09614	-2.24	0.05501	T	0.09928537317409401	0.07194	0.071	0.05060	B	.;.;.	.;.;.	0.162419	0.05527	1.989	0.74155081437159531	0.10590	0.19053	0.20509	N	AEFDBI	0.109365	0.21725	N	-0.979393416882191	0.09044	0.4264509	-0.972454653425125	0.10407	0.5239344	0.999991219532478	0.74766	0.549168	0.22868	0	0.588066	0.40923	0	0.590023	0.30420	0	0.613276	0.41899	0	.	.	5.41	-3.87	0.03939	0.152000	0.16120	-1.318000	0.05730	-0.806000	0.03109	0.769000	0.29345	0.000000	0.08366	0.312000	0.24784	0.2727:0.1788:0.0:0.5485	6.740	0.22621	2	0.99499	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	855.98	35	chr3	50343823	.	C	T	855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.281;DP=784;ExcessHet=0.0000;FS=0.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=-1.344e+00;SOR=0.869	GT:AD:DP:GQ:PL	0/1:29,32:61:99:870,0,743	20	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T,	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,14:66:99:.:.:137,0,1246	7	0	14	0
chr3	128813605	128813605	A	G	UTR3	RAB7A	NM_004637:c.*183A>G	.	.	Charcot-Marie-Tooth disease, type 2B, Autosomal dominant	.	270	1019	118	16	99	249	0.0685558	.	.	292532	not_provided|Charcot-Marie-Tooth_disease_type_2B	MedGen:CN517202|MONDO:MONDO:0010949,MedGen:C1833219,OMIM:600882,Orphanet:99936	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032273	84	26028	rs774054837	0.0632	0.0495	0.0625	0.0639	0.1123	0.0625	0.0622	0.1022	0.0983	0.0134	0.0332	0.0802	0.0007	0.0519	0.1123	0.0751	0.0637	0.0593	0.0339	0.0338	0.0344	0.0333	0.0513	0.0331	0.0328	0.0499	0.0493	0.0087	0.0275	0.0295	0.0527	0.0004	0.0314	0.0586	0.0513	0.0359	0.0433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	761.01	4	chr3	128813605	.	A	G,*	761.01	.	AC=5,1;AF=0.139,0.028;AN=36;BaseQRankSum=0.703;DP=157;ExcessHet=2.0135;FS=1.404;InbreedingCoeff=-0.2508;MLEAC=6,1;MLEAF=0.167,0.028;MQ=60.00;MQRankSum=0.00;QD=16.19;ReadPosRankSum=-4.140e-01;SOR=0.450	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,4,0:6:72:1|0:128813589_ACACACACACACACG_A:162,0,72,168,84,252:128813589	12	0	5	3
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5095.76	52	chr3	160258644	.	G	GA	5095.76	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.170e-01;DP=980;ExcessHet=1.5138;FS=1.222;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-1.520e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:24,17:43:99:373,0,534	12	1	8	0
chr3	165773492	165773492	C	T	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon4:c.G1699A:p.A567T,	Apnea, postanesthetic (3)	YES	44	964	416	98	0	612	0.240945	.	.	28259	Deficiency_of_butyrylcholinesterase|Butyrylcholinesterase_activity|not_specified|not_provided	MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.012	B	0.019	N	0.933	P	1.895	L	-0.18	T	-1.017	T	0.001	T	0.246	2.970	15.90	4.14	1.206	4.872	11.972	0.136	.	0.1977	0.158546	0.1891	0.1966	0.1155	0.1183	0.1714	0.2109	0.1991	0.1939	0.179157	27698	154602	rs1803274	0.1952	0.1965	0.1955	0.1949	0.2300	0.1946	0.1944	0.2197	0.2156	0.1919	0.1175	0.1779	0.1388	0.1691	0.2300	0.2027	0.1945	0.1868	0.1828	0.1828	0.1846	0.1809	0.1978	0.1810	0.1802	0.1950	0.1939	0.1886	0.2121	0.1383	0.1763	0.1173	0.1653	0.2007	0.1978	0.1835	0.1677	0.093	0.31532	T	0.15	0.37872	T	0.001	0.07471	B	0.012	0.16012	B	0.019382	0.27268	N	0.339910	0.933173	0.27002	P	2.455	0.71248	M	-0.18	0.77336	T	-0.52	0.38151	N	0.036	0.01068	-1.0170	0.24690	T	0.001	0.00222	T	9	0.0018072128	0.00024	T	.	.	.	0.136	0.36778	.	.	.	.	0.26196509411827273	0.26109	0.0146452542494	0.01391	0.319616317749	0.13362	T	0.358518	0.74836	T	-0.467858	0.00877	T	-0.301002	0.44619	T	0.0211996116972123	0.00822	T	0.774123	0.42528	T	0.22133149	0.44708	0.23066719	0.48175	0.23999383	0.46897	0.20989761	0.45352	-5.147	0.38398	T	.	.	0.085	0.16538	B	.;.	.;.	3.292023	0.45157	22.1	0.99632838182915928	0.76142	0.91322	0.53300	D	AEFI	0.801494	0.72719	D	-0.00633166657305249	0.41567	2.488702	0.123040286207381	0.45729	2.831012	0.00173072517578264	0.08818	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.03	4.14	0.47821	4.438000	0.59704	2.697000	0.34132	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9138:0.0:0.0862	11.972	0.52358	900	0.24599	Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain;Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain	BCHE	Heart_Atrial_Appendage	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.3095	13452.11	33	chr3	165773492	.	C	T	13452.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-4.230e-01;DP=1260;ExcessHet=1.3217;FS=1.851;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.656;SOR=0.824	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1202,0,1239	10	2	9	0
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	.	0	306	693	523	0	1739	0.739685	.	.	54598	Wolfram_syndrome_1|WFS1-Related_Spectrum_Disorders|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_specified|not_provided	MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MedGen:CN239410|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5531	0.641573	0.6245	0.4646	0.7443	0.9358	0.5720	0.5907	0.6355	0.6352	0.616195	95265	154602	rs1801206	0.6051	0.6051	0.6041	0.6061	0.9578	0.6040	0.6036	0.9497	0.9464	0.4555	0.7260	0.6765	0.9578	0.5715	0.5902	0.5890	0.6193	0.6353	0.5756	0.5759	0.5734	0.5779	0.9332	0.5724	0.5711	0.9111	0.9021	0.4596	0.3890	0.6659	0.6603	0.9332	0.5667	0.6156	0.5925	0.6087	0.6444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.5952	97164.78	225	chr4	6300980	.	C	T	97164.78	.	AC=25;AF=0.595;AN=42;BaseQRankSum=-2.344e+00;DP=4951;ExcessHet=0.6491;FS=0.000;InbreedingCoeff=0.1106;MLEAC=25;MLEAF=0.595;MQ=60.00;MQRankSum=0.00;QD=22.36;ReadPosRankSum=0.497;SOR=0.715	GT:AD:DP:GQ:PL	0/1:129,138:267:99:3779,0,3656	4	8	9	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	YES	10	265	679	568	0	1815	0.773987	.	.	54604	not_specified|Type_2_diabetes_mellitus|WFS1-Related_Spectrum_Disorders|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:CN239410|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6323	0.729433	0.6595	0.6736	0.7600	0.9441	0.5735	0.6010	0.6641	0.7013	0.648394	100243	154602	rs1801214	0.6232	0.6230	0.6215	0.6249	0.9621	0.6221	0.6216	0.9540	0.9506	0.6757	0.7449	0.6960	0.9621	0.5729	0.6281	0.5982	0.6483	0.6951	0.6443	0.6444	0.6428	0.6459	0.9402	0.6409	0.6395	0.9181	0.9091	0.6704	0.3904	0.7014	0.6817	0.9402	0.5669	0.6531	0.6019	0.6596	0.7030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.5952	70076.78	204	chr4	6301295	.	C	T	70076.78	.	AC=25;AF=0.595;AN=42;BaseQRankSum=2.07;DP=3793;ExcessHet=0.6491;FS=0.000;InbreedingCoeff=0.1106;MLEAC=25;MLEAF=0.595;MQ=60.00;MQRankSum=0.00;QD=21.54;ReadPosRankSum=0.392;SOR=0.690	GT:AD:DP:GQ:PL	0/1:109,99:208:99:2688,0,2962	4	8	9	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	Hereditary_attention_deficit-hyperactivity_disorder|not_provided	MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37216.98	130	chr4	9783510	.	T	C	37216.98	.	AC=23;AF=0.548;AN=42;BaseQRankSum=0.351;DP=1956;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=23;MLEAF=0.548;MQ=59.95;MQRankSum=0.00;QD=21.71;ReadPosRankSum=-2.420e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/1:37,61:98:99:1715,0,891	5	7	9	0
chr4	15540994	15540994	C	T	exonic	CC2D2A	.	nonsynonymous SNV	CC2D2A:NM_001378617:exon15:c.C2014T:p.P672S	COACH syndrome, Autosomal recessive;Joubert syndrome 9, Autosomal recessive;Meckel syndrome 6, Autosomal recessive	.	3	1500	16	3	0	22	0.00727995	.	.	191984	Meckel-Gruber_syndrome|Familial_aplasia_of_the_vermis|Joubert_syndrome_1|not_specified|not_provided|Meckel_syndrome,_type_6	MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.61	M	-2.14	D	0.797	D	0.808	D	0.981	4.823	27.3	4.94	2.451	7.578	18.528	0.955	.	0.0003	0.00399361	0.0053	0	0.0026	0	0	0.0032	0.0048	0.0120	0.0011966	185	154602	rs199768782	0.0017	0.0016	0.0014	0.0019	0.0099	0.0016	0.0016	0.0093	0.0091	0.0003	0.0005	0.0080	2.8e-05	2.03e-05	0.0060	0.0011	0.0022	0.0099	0.0011	0.0011	0.0010	0.0013	0.0127	0.0010	0.0009	0.0101	0.0092	0.0001	0	0.0009	0.0078	0	0	0	0.0009	0.0019	0.0127	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.695	0.78878	M	-2.14	0.86415	D	-6.12	0.90060	D	0.98	0.99015	0.797	0.94374	D	0.808	0.93515	D	10	0.033253044	0.01496	T	.	.	.	0.955	0.99221	.	.	0.971080275067	0.97077	0.7533763064890243	0.75284	0.304595107868	0.32764	0.565320968628	0.48018	T	0.727191	0.92335	D	0.110485	0.65404	D	0.39389	0.91911	D	0.0673970474467973	0.08280	T	0.90041	0.65400	D	0.79635006	0.83673	0.80519795	0.88596	0.8174664	0.85051	0.7884969	0.87553	-12.273	0.86155	D	0.5879459662494746	0.65473	0.954	0.87349	P	.;.	.;.	4.698320	0.75353	26.3	0.99922440006476421	0.98852	0.94860	0.62581	D	AEFBHCI	0.876338	0.80028	D	0.842543671979608	0.88679	9.669978	0.789894522278762	0.89082	9.831114	0.999999999266972	0.74766	0.624846	0.39970	0	0.588015	0.36545	0	0.650271	0.49498	0	0.635551	0.53088	0	.	.	4.94	4.94	0.64645	7.641000	0.82513	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.528	0.90930	609	0.67094	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	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1109.98	37	chr4	15540994	.	C	T	1109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=769;ExcessHet=0.0000;FS=4.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=2.81;SOR=1.221	GT:AD:DP:GQ:PL	0/1:34,42:76:99:1124,0,749	20	0	1	0
chr4	87615117	87615117	G	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.G2455A:p.D819N,	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1086	435	1	0	0	1	0.00114811	.	.	799370	not_provided|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.37	T	0.084	B	0.003	B	.	.	1.000	N	1.385	L	-2.36	D	-0.742	T	0.458	T	0.06	-0.909	0.420	-2.22	-1.420	0.356	5.794	0.178	0.213223610074	0.0002	.	0.0004	0	0	0	0	0.0009	0	0	7.12e-05	11	154602	rs371825362	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0025	0.0021	0.0001	0.0008	0.0032	0	0	0.0037	9.395e-05	0.0004	1.264e-05	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0010	0.0008	0.0002	0	0.0015	0.0036	0.0002	0	0.0061	0.0002	0.0005	0	.	.	.	0.229	0.25210	T	0.084	0.24799	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	-2.36	0.88143	D	-0.85	0.23156	N	0.05	0.02179	-0.7423	0.58334	T	0.458	0.78935	T	9	0.013437867	0.00285	T	0.213224	0.87395	D	0.178	0.44724	.	.	0.31411915649	0.31020	9.608739296773312E-4	0.00089	.	.	.	.	.	0.097175	0.39973	T	-0.383836	0.02946	T	-0.480263	0.24418	T	0.0112056434772244	0.00164	T	0.339066	0.07293	T	0.095233865	0.22408	0.047771994	0.06955	0.095233865	0.22408	0.047771994	0.06954	-4.522	0.31175	T	.	.	.	.	.	.	.	1.069395	0.14516	11.09	0.53407163892213028	0.04934	0.02924	0.07735	N	AEFGBCI	0.027941	0.02371	N	-1.61053318700251	0.01213	0.05273635	-1.75182523373402	0.00926	0.04144969	3.92953757532465E-4	0.06820	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.567339	0.31927	0	.	.	1.11	-2.22	0.06560	0.023000	0.13424	2.568000	0.33349	-0.726000	0.03757	0.000000	0.06391	0.580000	0.25617	0.000000	0.00833	0.517:0.0:0.483:0.0	5.794	0.17641	500	0.76024	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	475.98	40	chr4	87615117	.	G	A	475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.483;DP=769;ExcessHet=0.0000;FS=6.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.394;SOR=0.556	GT:AD:DP:GQ:PL	0/1:22,18:40:99:490,0,609	20	0	1	0
chr5	218349	218349	A	C	UTR5	SDHA	NM_001294332:c.-7A>C;NM_001330758:c.-7A>C;NM_004168:c.-7A>C	.	.	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	.	4	1507	11	0	0	11	0.00363636	.	.	358787	Mitochondrial_complex_II_deficiency,_nuclear_type_1|not_specified|not_provided|Paragangliomas_5|Hereditary_pheochromocytoma-paraganglioma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0	0.0003	0	0	0.0012	0.0029	0.0021	0.0006015	93	154602	rs751633537	0.0010	0.0010	0.0010	0.0010	0.0046	0.0010	0.0010	0.0029	0.0024	3.743e-05	0.0005	0.0038	0	5.942e-05	0.0046	0.0010	0.0013	0.0010	0.0008	0.0008	0.0009	0.0007	0.0012	0.0007	0.0006	0.0010	0.0009	0.0001	0	0.0008	0.0029	0.0002	0.0002	0.0034	0.0012	0.0019	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	302.98	35	chr5	218349	.	A	C	302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.736;DP=657;ExcessHet=0.0000;FS=3.227;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=1.31;SOR=1.112	GT:AD:DP:GQ:PL	0/1:15,13:28:99:317,0,328	20	0	1	0
chr5	256320	256321	CT	-	intronic	SDHA	.	.	.	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	.	2	837	682	1	0	684	0.290076	.	.	297301	not_provided|Leigh_syndrome|Pheochromocytoma|SDHA-related_disorder|Paragangliomas_5|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Hereditary_cancer-predisposing_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|.|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.255e-06	0	0	0	0	1.499e-05	0	0	0.0031889	83	26028	rs372662724	0.0587	0.1488	0.0629	0.0545	0.0712	0.0583	0.0582	0.0708	0.0706	0.0457	0.0112	0.0178	0.0073	0.0091	0.0398	0.0712	0.0454	0.0146	0.0009	0.0171	0.0008	0.0010	0.0012	0.0007	0.0007	0.0009	0.0008	0.0012	0.0012	0.0010	0.0003	0.0004	0.0010	0.0035	0.0007	0.0016	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	5151.27	33	chr5	256319	.	ACT	A	5151.27	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-1.497e+00;DP=2519;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=58.10;MQRankSum=-1.235e+01;QD=2.88;ReadPosRankSum=0.434;SOR=0.810	GT:AD:DP:GQ:PL	0/1:138,16:154:99:258,0,5610	10	0	11	0
chr5	13917246	13917246	T	C	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon8:c.A986G:p.E329G,	Ciliary dyskinesia, primary, 3, with or without situs inversus	YES	0	1521	1	0	0	1	0.000328623	.	.	1828850	not_provided|Primary_ciliary_dyskinesia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.003	B	0.03	B	0.046	N	0.677	D	2.545	M	0.45	T	-0.678	T	0.179	T	0.26	1.831	12.08	5.54	2.107	2.187	7.796	0.205	0.0642683957276	.	.	4.974e-05	0	0	0	0	9.046e-05	0	0	3.88e-05	6	154602	rs483353127	1.574e-05	1.573e-05	1.362e-05	1.788e-05	0.0026	1.048e-05	8.76e-06	0.0016	0.0013	0	4.472e-05	3.827e-05	0	0	0.0026	0	8.283e-05	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	5.291e-05	2.837e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0	0.113	0.28772	T	.	.	.	0.003	0.11197	B	0.03	0.21741	B	0.046493	0.23434	N	0.469068	0.676849	0.33196	D	3.3	0.90472	M	0.45	0.56446	T	-5.13	0.83224	D	0.455	0.49237	-0.6779	0.61469	T	0.179	0.52504	T	10	0.44156352	0.58133	T	0.064268	0.69226	D	0.205	0.49236	0.561	0.68093	0.685124276654	0.68243	0.4798316727898653	0.47903	0.386324511951	0.39923	0.292774915695	0.09328	T	0.504224	0.82340	D	-0.218958	0.18134	T	-0.376448	0.36137	T	0.308433926030992	0.25350	T	0.838616	0.51177	T	0.21079993	0.43386	0.4376821	0.67179	0.21079993	0.43386	0.4376821	0.67179	-8.005	0.61105	D	0.2454908806116993	0.33249	0.093	0.14201	B	.	.	2.899917	0.38433	20.7	0.99470775478835638	0.66312	0.97340	0.74132	D	AEFDIJ	0.457864	0.50913	N	-0.0220795721846033	0.40858	2.43365	0.0843888682915284	0.43763	2.671408	0.997568617948589	0.35763	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.54	5.54	0.82907	2.182000	0.42186	6.184000	0.54674	0.665000	0.62972	0.985000	0.35982	1.000000	0.68203	0.038000	0.14061	0.1288:0.0:0.151:0.7202	7.796	0.28312	733	0.53988	Dynein heavy chain, domain-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1507.98	34	chr5	13917246	.	T	C	1507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.790e-01;DP=826;ExcessHet=0.0000;FS=2.442;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.412;SOR=0.474	GT:AD:DP:GQ:PL	0/1:68,55:123:99:1522,0,1849	20	0	1	0
chr5	38528850	38528853	ACAC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	18	95	41	30	42	143	0.347079	.	.	304338	not_specified|Stuve-Wiedemann_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0911	0.0372	0.0443	0.0489	0.0192	0.1161	0.0842	0.0855	0.0001617	25	154602	rs762238623	0.0461	0.0603	0.0450	0.0472	0.0799	0.0457	0.0456	0.0721	0.0691	0.0315	0.0263	0.1433	0.0287	0.0396	0.0799	0.0450	0.0515	0.0496	0.0145	0.0146	0.0151	0.0140	0.0281	0.0140	0.0138	0.0267	0.0262	0.0281	0	0.0095	0.0479	0.0074	0.0073	0.0263	0.0077	0.0180	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	6823.62	31	chr5	38528849	.	GACAC	G,GAC,GACACAC,GACACACAC	6823.62	.	AC=2,15,2,1;AF=0.048,0.357,0.048,0.024;AN=42;BaseQRankSum=-5.370e-01;DP=895;ExcessHet=8.0185;FS=2.856;InbreedingCoeff=-0.3364;MLEAC=2,15,2,1;MLEAF=0.048,0.357,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-5.950e-01;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:2,3,11,6,0:24:99:.:.:436,335,540,99,152,200,350,290,0,490,485,553,250,473,715	4	0	0	0
chr5	38918993	38918993	G	A	exonic	OSMR	.	nonsynonymous SNV	OSMR:NM_001323505:exon11:c.G1516A:p.V506I	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	735103	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.64	P	0.033	B	0.086	N	1.000	N	1.185	L	-0.02	T	-1.016	T	0.103	T	0.194	0.623	7.351	-1.28	-0.209	-0.352	8.750	0.083	0.0174722814501	0.0015	0.000998403	0.0015	0.0009	0.0004	0.0001	0	0.0013	0.0055	0.0041	0.0013519	209	154602	rs147042111	0.0019	0.0019	0.0018	0.0019	0.0048	0.0018	0.0018	0.0044	0.0043	0.0004	0.0003	7.653e-05	5.038e-05	0.0001	0.0014	0.0019	0.0020	0.0048	0.0012	0.0012	0.0014	0.0011	0.0040	0.0011	0.0010	0.0026	0.0022	0.0006	0	0.0007	0	0.0004	0	0.0068	0.0019	0.0009	0.0040	0.427	0.18371	T	0.621	0.41074	T	0.64	0.40395	P	0.033	0.22329	B	0.086384	0.20590	N	0.516722	1	0.08975	N	1.15	0.29295	L	-0.02	0.62918	T	-0.47	0.15178	N	0.205	0.22742	-1.0163	0.24916	T	0.103	0.37994	T	10	0.0042425394	0.00085	T	0.017472	0.39181	T	0.083	0.24192	.	.	0.144782658237	0.14088	0.21885969059294852	0.21801	0.0823980233098	0.09297	0.309908300638	0.11894	T	0.119857	0.44168	T	-0.518608	0.00448	T	-0.51663	0.20636	T	0.00201253571662779	0.00021	T	0.580242	0.21938	T	0.022232696	0.00872	0.021530759	0.00202	0.022232696	0.00872	0.021530759	0.00202	-4.081	0.25009	T	0.11689148382822652	0.10618	0.075	0.11366	B	.;.	.;.	0.000160	0.04284	1.072	0.63398414196313269	0.07213	0.03030	0.07914	N	AEFBI	0.050437	0.08815	N	-0.993391616751877	0.08745	0.4111739	-1.10397046464138	0.07624	0.371582	0.700232167030638	0.22690	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.82	-1.28	0.08834	-0.176000	0.09802	-1.258000	0.05887	-0.822000	0.02949	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.5759:0.0:0.4241:0.0	8.750	0.33769	662	0.61715	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2002.98	33	chr5	38918993	.	G	A	2002.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=876;ExcessHet=0.0000;FS=9.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-2.310e-01;SOR=0.308	GT:AD:DP:GQ:PL	0/1:89,78:167:99:2017,0,2294	20	0	1	0
chr5	42711274	42711274	G	A	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon5:c.G620A:p.R207H	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	.	1	1499	22	0	0	22	0.00728477	.	.	265893	Laron-type_isolated_somatotropin_defect|not_specified|Short_stature_due_to_partial_GHR_deficiency|not_provided	MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633|MedGen:CN169374|MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.703	P	0.000	D	1.000	D	1.845	L	-3.02	D	0.668	D	0.814	D	0.9	5.075	31	5.21	2.405	4.538	18.767	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1435.98	41	chr5	42711274	.	G	A	1435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-8.440e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1450,0,1256	20	0	1	0
chr5	132579330	132579330	G	A	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon4:c.G379A:p.V127I,	Nijmegen breakage syndrome-like disorder	.	3	1500	18	1	0	20	0.00662252	.	.	133480	not_provided|Nijmegen_breakage_syndrome-like_disorder|Hereditary_cancer-predisposing_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.999	D	0.978	D	0.000	D	1.000	D	1.425	L	2.56	T	-1.107	T	0.116	T	0.274	3.937	20.1	5.69	2.683	4.793	18.801	0.142	0.0138887376583	0.0018	0.000399361	0.0017	0.0003	0.0009	0.0001	0	0.0027	0.0022	0.0004	0.0015394	238	154602	rs28903086	0.0013	0.0013	0.0013	0.0014	0.0075	0.0013	0.0013	0.0057	0.0051	0.0002	0.0012	0.0098	2.521e-05	0.0001	0.0075	0.0013	0.0021	0.0006	0.0015	0.0015	0.0012	0.0017	0.0040	0.0013	0.0012	0.0032	0.0029	0.0002	0	0.0040	0.0107	0	0	0.0136	0.0016	0.0014	0.0004	0.251	0.37750	T	0.198	0.43159	T	0.999	0.77913	D	0.978	0.74104	D	0.000008	0.62929	D	0.107793	0.999927	0.81001	D	1.785	0.46417	L	1.97	0.22067	T	-0.85	0.23156	N	0.273	0.30914	-1.1075	0.03293	T	0.116	0.41008	T	10	0.009372592	0.00212	T	0.013889	0.33629	T	0.142	0.37995	.	.	0.603090222555	0.59992	0.3234470342466072	0.32257	.	.	0.512988805771	0.40641	T	0.022545	0.29965	T	-0.452504	0.01092	T	-0.429243	0.30020	T	0.0351086830079902	0.02827	T	0.89781	0.78426	D	0.2301101	0.45760	0.21668446	0.46305	0.2301101	0.45760	0.21668446	0.46304	-5.559	0.42416	T	0.3448653139655321	0.44242	0.093	0.14015	B	.;.;.;.;.;.	.;.;.;.;.;.	3.165794	0.42909	21.6	0.99752672536328513	0.84382	0.96551	0.69706	D	AEFBI	0.455965	0.50803	N	0.656899531823253	0.76816	6.556754	0.676887313599939	0.80628	7.341078	0.62270337508391	0.21899	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	4.896000	0.62911	4.411000	0.43281	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.801	0.91984	816	0.41767	.;.;.;.;Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1389.98	33	chr5	132579330	.	G	A	1389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=792;ExcessHet=0.0000;FS=2.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.572;SOR=1.041	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1404,0,1132	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	30478.64	113	chr5	138556481	.	G	A	30478.64	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-6.300e-02;DP=1997;ExcessHet=2.0051;FS=0.541;InbreedingCoeff=-0.0476;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=17.07;ReadPosRankSum=-5.510e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1229,0,1269	5	5	11	0
chr5	146878727	146878727	-	GCTGCTGCTGCTGCT	UTR5	PPP2R2B	NM_181675:c.-657_-656insAGCAGCAGCAGCAGC;NM_001271948:c.-22193_-22192insAGCAGCAGCAGCAGC	.	.	Spinocerebellar ataxia 12, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	215310	not_specified|PPP2R2B-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077225	201	26028	rs142461655	0.1009	0.1092	0.0980	0.1038	0.1147	0.1004	0.1001	0.1126	0.1118	0.0771	0.0840	0.1328	0.0832	0.1021	0.1107	0.1002	0.1125	0.1147	0.0968	0.0971	0.0995	0.0940	0.1241	0.0955	0.0949	0.1169	0.1160	0.0773	0.0833	0.0789	0.1165	0.0656	0.0518	0.1069	0.1190	0.0968	0.1241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	21129.44	37	chr5	146878727	.	A	AGCTGCTGCTGCTGCTGCTGCT,AGCT,AGCTGCTGCTGCT,AGCTGCTGCTGCTGCT,AGCTGCT,AGCTGCTGCT	21129.44	.	AC=6,1,4,3,1,7;AF=0.143,0.024,0.095,0.071,0.024,0.167;AN=42;BaseQRankSum=-5.940e-01;DP=1307;ExcessHet=0.2144;FS=0.000;InbreedingCoeff=0.2364;MLEAC=6,1,4,3,1,7;MLEAF=0.143,0.024,0.095,0.071,0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=31.92;ReadPosRankSum=0.364;SOR=0.702	GT:AD:DP:GQ:PL	1/1:0,11,0,0,0,0,0:23:76:996,81,0,766,76,712,766,76,712,712,766,76,712,712,712,766,76,712,712,712,712,766,76,712,712,712,712,712	6	2	1	0
chr5	172454519	172454519	G	C	UTR5	SH3PXD2B	NM_001308175:c.-167C>G;NM_001017995:c.-167C>G	.	.	Frank-ter Haar syndrome, Autosomal recessive	.	604	714	108	96	0	300	0.173611	.	.	893952	Frank-Ter_Haar_syndrome|not_provided	MONDO:MONDO:0009579,MedGen:C1855305,OMIM:249420,Orphanet:1266,Orphanet:137834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112436148	0.2879	0.1737	0.2868	0.2890	0.3021	0.2817	0.2792	0.2953	0.2925	0.1436	0.2857	0.2167	0.1533	0.3621	0.1800	0.3021	0.2541	0.1656	0.2811	0.2891	0.2859	0.2759	0.3464	0.2787	0.2778	0.3425	0.3410	0.2019	0.4053	0.2760	0.2721	0.1487	0.2680	0.3209	0.3464	0.2888	0.1827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	559.53	1	chr5	172454519	.	G	C	559.53	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-1.150e+00;DP=106;ExcessHet=0.1908;FS=0.000;InbreedingCoeff=-0.0088;MLEAC=8;MLEAF=0.235;MQ=60.00;MQRankSum=0.00;QD=17.49;ReadPosRankSum=1.15;SOR=0.504	GT:AD:DP:GQ:PL	0/1:7,2:9:54:54,0,220	12	1	4	4
chr6	6174633	6174633	G	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon12:c.C1694T:p.P565L,	Factor XIIIA deficiency, Autosomal recessive	.	4	868	532	118	0	768	0.306709	.	.	252448	not_provided|not_specified|Factor_XIII,_A_subunit,_deficiency_of	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.74	T	0.003	B	0.002	B	0.139	N	1.000	P	-0.55	N	-0.06	T	-1.081	T	0.040	T	0.06	-0.906	0.427	5.78	2.726	2.506	12.334	0.077	.	0.1925	0.240415	0.2160	0.1520	0.0939	0.3199	0.2052	0.2048	0.2313	0.3360	0.209965	32461	154602	rs5982	0.2156	0.2156	0.2117	0.2195	0.3279	0.2149	0.2147	0.3247	0.3234	0.1539	0.1013	0.2210	0.3015	0.2031	0.2525	0.2100	0.2248	0.3279	0.1958	0.1960	0.1933	0.1985	0.3479	0.1940	0.1932	0.3340	0.3284	0.1586	0.2029	0.1354	0.2190	0.3065	0.2133	0.2687	0.2087	0.1957	0.3479	0.729	0.03823	T	0.665	0.06406	T	.	.	.	.	.	.	0.138901	0.18362	N	0.568490	1	0.08975	P	.	.	.	-0.06	0.63568	T	0.31	0.04022	N	0.036	0.01068	-1.0809	0.07175	T	0.040	0.17149	T	9	0.0069898665	0.00159	T	.	.	.	0.077	0.22490	.	.	.	.	0.5783212436962746	0.57761	0.227437257193	0.25295	0.354513347149	0.18584	T	.	.	.	-0.666851	0.00057	T	-0.586841	0.13941	T	0.0120128747694183	0.00189	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.	.	2.677165	0.34918	19.76	0.3814487705666012	0.02555	0.45118	0.27468	N	AEFDGBI	0.423562	0.48910	N	-0.656020314291582	0.17286	0.8881491	-0.481416803574241	0.22666	1.232241	0.982481270091029	0.30405	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	2.576000	0.45698	8.492000	0.77332	0.665000	0.62972	0.643000	0.28111	1.000000	0.68203	0.253000	0.23340	0.0763:0.0:0.9237:0.0	12.334	0.54383	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	28918.26	37	chr6	6174633	.	G	A	28918.26	.	AC=11;AF=0.262;AN=42;BaseQRankSum=2.29;DP=2169;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1378;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=17.37;ReadPosRankSum=0.505;SOR=0.737	GT:AD:DP:GQ:PL	0/1:111,87:198:99:2299,0,2633	12	2	7	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G	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	Lethal_acantholytic_epidermolysis_bullosa|Woolly_hair-skin_fragility_syndrome|not_provided|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Keratosis_palmoplantaris_striata_2|DSP-related_disorder|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|Cardiovascular_phenotype|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908|.|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282	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	1	1	0.6429	175804.2	449	chr6	7585734	.	G	C	175804.2	.	AC=27;AF=0.643;AN=42;BaseQRankSum=4.06;DP=8806;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=20.84;ReadPosRankSum=0.224;SOR=0.645	GT:AD:DP:GQ:PL	0/1:242,226:468:99:6508,0,6331	1	7	13	0
chr6	16327685	16327687	TGC	-	exonic	ATXN1	.	nonframeshift deletion	ATXN1:NM_001128164:exon7:c.624_626del:p.Q208del	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	207394	ATXN1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001423	22	154602	rs797045409	0.0424	0.0556	0.0408	0.0441	0.3444	0.0422	0.0420	0.3389	0.3366	0.0367	0.1010	0.0204	0.3444	0.0672	0.0337	0.0262	0.0548	0.1071	0.0694	0.0705	0.0647	0.0744	0.3715	0.0682	0.0677	0.3558	0.3495	0.0558	0.1998	0.1241	0.0327	0.3715	0.0848	0.0426	0.0397	0.0626	0.1442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	2/4:2,0,13,0,22,0:37:99:1649,1704,2350,809,1366,1633,1704,2350,1366,2350,743,1070,0,1070,1120,1294,1672,906,1672,868,1772	9	0	3	0
chr6	32040110	32040110	G	T	exonic	CYP21A2	.	nonsynonymous SNV	CYP21A2:NM_001128590:exon6:c.G754T:p.V252L	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	YES	0	1479	43	0	0	43	0.0143286	.	.	27190	Congenital_adrenal_hyperplasia|Inborn_genetic_diseases|not_provided|CYP21A2-related_disorder|Adenoma,_cortisol-producing|Carcinoma,_adrenocortical,_androgen-secreting|Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency	Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.|MedGen:C3151153|MedGen:C1859998|MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	1	T	0.929	P	0.796	P	0.001	D	0.956	A	0.545	N	-0.03	T	-0.970	T	0.100	T	0.727	2.398	13.98	4.02	2.463	2.552	10.072	0.311	.	.	.	0.0104	0.0050	0.0251	0.0021	0.0015	0.0129	0.0172	0.0015	0.0002652	41	154602	rs6471	0.0044	0.0084	0.0045	0.0043	0.0149	0.0043	0.0043	0.0140	0.0136	0.0030	0.0149	0.0452	0.0006	0.0014	0.0096	0.0033	0.0093	0.0009	0.0109	0.0140	0.0120	0.0097	0.0276	0.0104	0.0102	0.0255	0.0246	0.0049	0	0.0276	0.0723	0.0021	0.0011	0.0174	0.0104	0.0242	0.0012	0.612	0.06030	T	0.411	0.14679	T	0.929	0.51690	P	0.679	0.53442	P	0.000507	0.43753	D	0.000000	0.955922	0.37949	A	.	.	.	-0.03	0.63077	T	-0.9	0.24244	N	0.882	0.88027	-0.9704	0.37115	T	0.100	0.37239	T	9	0.0096589625	0.00217	T	.	.	.	0.311	0.63269	0.857	0.95604	.	.	0.5972667856722742	0.59657	1.16223817457	0.79525	0.504117131233	0.39401	T	.	.	.	0.0639463	0.60105	T	-0.145922	0.59604	T	0.981746435165405	0.74087	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.62058	A	.;.;.;.	.;.;.;.	3.749744	0.53743	23.4	0.99112721896904177	0.52776	0.87789	0.47449	D	AEFGBHI	0.786009	0.71622	D	0.0540422138522301	0.44330	2.708939	0.100301907356287	0.44563	2.735777	0.293754153552603	0.19115	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.613276	0.41899	0	.	.	4.96	4.02	0.45968	2.599000	0.45895	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.193000	0.21690	0.0:0.0:0.7997:0.2003	10.072	0.41514	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	1487.68	52	chr6	32040110	.	G	T	1487.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.34;DP=1121;ExcessHet=0.3300;FS=27.143;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=50.75;MQRankSum=-3.602e+00;QD=3.94;ReadPosRankSum=-6.520e-01;SOR=1.798	GT:AD:DP:GQ:PL	0/1:88,33:121:99:749,0,2222	18	0	3	0
chr6	32041874	32041874	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1817A:p.S606N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	156	1167	186	13	0	212	0.0832679	.	.	188198	not_specified|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:CN169374|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.0	B	0.0	B	0.000	N	0.999	N	-0.42	N	-1.13	T	-1.036	T	0.077	T	0.011	-0.676	1.049	4.69	0.841	0.397	7.621	0.224	.	.	.	0.2369	0.3095	0.2	0.1429	0	0.2778	0.1795	0.2191	0.0010758	28	26028	rs199953230	0.0630	0.0905	0.0592	0.0664	0.1302	0.0624	0.0622	0.1249	0.1228	0.1302	0.0596	0.1009	0.0097	0.0564	0.0714	0.0578	0.0619	0.1021	0.0672	0.1011	0.0661	0.0684	0.1241	0.0658	0.0652	0.1200	0.1183	0.1241	0.0690	0.0633	0.0770	0.0199	0.0294	0.0337	0.0503	0.0673	0.0711	0.551	0.14996	T	1.0	0.01155	T	.	.	.	.	.	.	0.000041	0.53742	N	0.000000	1	0.08975	N	.	.	.	-1.13	0.77719	T	1.79	0.01121	N	0.06	0.07125	-1.0357	0.18637	T	0.077	0.30737	T	10	0.001997441	0.00028	T	.	.	.	0.224	0.52174	.	.	.	.	0.07582235178256264	0.07518	1.53742651601	0.87669	0.813815176487	0.84078	D	0.002058	0.01461	T	-0.234486	0.16060	T	-0.574599	0.15031	T	0.00591933667003544	0.00065	T	0.0176649	0.00099	T	0.06130841	0.12681	0.061310552	0.11818	0.06130841	0.12681	0.061310552	0.11817	-1.845	0.03461	T	0.1229657868823964	0.11852	0.050	0.00315	B	.;.;.;.;.	.;.;.;.;.	1.709254	0.21764	15.34	0.88167499122725401	0.17767	0.04006	0.09432	N	AEFGI	0.064479	0.12523	N	-0.809593627523601	0.13065	0.6410341	-0.628300974256214	0.18767	1.004015	0.0322796501112813	0.14047	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	0.728000	0.25682	.	.	-0.113000	0.14837	0.000000	0.06391	1.000000	0.68203	0.988000	0.63387	0.0:0.1752:0.0:0.8248	7.621	0.27353	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.1905	2304.2	31	chr6	32041874	.	C	T	2304.2	.	AC=8;AF=0.190;AN=42;BaseQRankSum=0.528;DP=489;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0675;MLEAC=8;MLEAF=0.190;MQ=30.80;MQRankSum=-1.815e+00;QD=9.64;ReadPosRankSum=0.113;SOR=1.033	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,5:36:99:0|1:32041874_C_T:103,0,1209:32041874	14	1	6	0
chr6	32041884	32041884	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1807A:p.D603N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	196	1075	234	17	0	268	0.110835	.	.	188199	not_specified|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:CN169374|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.973	D	0.000	D	1.000	D	2.32	M	-2.09	D	0.625	D	0.742	D	0.104	4.721	26.3	4.69	2.454	4.702	16.619	0.573	.	.	.	0.3540	0.3552	0.2576	0.2614	0.25	0.3279	0.3235	0.3705	0.0028815	75	26028	rs200523717	0.0936	0.1128	0.0868	0.0996	0.1959	0.0929	0.0926	0.1926	0.1913	0.1491	0.0685	0.1155	0.0517	0.0767	0.0855	0.0816	0.0909	0.1959	0.0934	0.1198	0.0902	0.0970	0.1735	0.0916	0.0909	0.1588	0.1531	0.1512	0.0543	0.0817	0.0987	0.0567	0.0481	0.0455	0.0740	0.0915	0.1735	0.0	0.91255	D	0.013	0.65728	D	.	.	.	.	.	.	0.000063	0.52346	D	0.000000	0.996006	0.53665	D	.	.	.	-2.09	0.86077	D	-3.33	0.76655	D	0.197	0.60241	0.625	0.92223	D	0.742	0.91206	D	10	0.008031756	0.00182	T	.	.	.	0.573	0.82686	.	.	.	.	0.6407622812908406	0.64011	2.90588491431	0.99094	0.832190692425	0.86898	D	0.145862	0.48318	T	-0.011318	0.50081	T	-0.254034	0.49419	T	0.0173785942299874	0.00476	T	0.856614	0.67171	D	0.72789073	0.79605	0.6560945	0.79863	0.72789073	0.79606	0.6560945	0.79864	-9.574	0.71400	D	0.1226877263887742	0.11790	0.685	0.72405	P	.;.;.;.;.	.;.;.;.;.	5.229507	0.87781	29.4	0.99892685643528023	0.96666	0.96837	0.71207	D	AEFGI	0.734139	0.68036	D	0.721571237210364	0.81047	7.431562	0.669935722984053	0.80102	7.224991	0.998872174677663	0.37868	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	5.028000	0.63895	.	.	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.619	0.84780	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2710.32	28	chr6	32041884	.	C	T	2710.32	.	AC=9;AF=0.225;AN=40;BaseQRankSum=2.92;DP=441;ExcessHet=0.9430;FS=2.573;InbreedingCoeff=-0.0229;MLEAC=9;MLEAF=0.225;MQ=30.71;MQRankSum=-2.210e+00;QD=10.67;ReadPosRankSum=0.229;SOR=1.211	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,4:29:93:0|1:32041874_C_T:93,0,1030:32041874	12	1	7	1
chr6	64307042	64307042	A	T	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon30:c.T6119A:p.V2040D	Retinitis pigmentosa 25	.	7	1481	32	2	0	36	0.012008	.	.	140960	Retinitis_pigmentosa|not_specified|Retinitis_pigmentosa_25|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.62	T	1.0	D	0.995	D	.	.	1.000	D	0	N	-0.05	T	-0.903	T	0.130	T	0.509	3.985	20.4	5.08	1.916	4.955	12.403	0.296	0.106531053532	.	0.000998403	0.0019	0.0005	0.0051	0	0	0.0024	0.0053	0.0018	0.0004722	73	154602	rs201580493	0.0011	0.0011	0.0011	0.0012	0.0277	0.0011	0.0011	0.0242	0.0228	0.0008	0.0035	0.0051	0	2.045e-05	0.0277	0.0008	0.0027	0.0013	0.0017	0.0017	0.0014	0.0019	0.0068	0.0015	0.0014	0.0058	0.0054	0.0005	0.0055	0.0068	0.0061	0	0	0.0306	0.0011	0.0081	0.0006	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.83170	D	.	.	.	.	0.982384	0.39886	D	0.345	0.11182	N	-0.05	0.63403	T	-0.91	0.25332	N	0.416	0.45615	-0.9029	0.47684	T	0.130	0.43968	T	9	0.009310007	0.00210	T	0.106531	0.78218	D	0.296	0.61616	.	.	0.657879018388	0.65502	0.17429425445175542	0.17348	0.0575821773267	0.06375	0.401550829411	0.25284	T	0.041997	0.26039	T	-0.326218	0.06401	T	-0.242522	0.50553	T	0.0362125280277795	0.03018	T	0.586341	0.21412	T	0.37975034	0.59298	0.38749006	0.63616	0.4166158	0.61867	0.3902194	0.63822	-4.209	0.26882	T	0.646343039558821	0.71780	0.586	0.74265	P	.;.	.;.	3.585603	0.50567	23.0	0.98577048346978069	0.43193	0.91081	0.52822	D	AEBI	0.447865	0.50333	N	0.269837877087226	0.54627	3.627768	0.323269287413935	0.56910	3.855168	0.0040926313466878	0.10414	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	5.489000	0.66595	3.899000	0.40339	0.756000	0.94297	0.852000	0.30477	0.081000	0.22384	0.993000	0.69303	1.0:0.0:0.0:0.0	12.403	0.54755	455	0.79073	.;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1068.98	34	chr6	64307042	.	A	T	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.227e+00;DP=776;ExcessHet=0.0000;FS=4.251;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.759;SOR=0.368	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1083,0,974	20	0	1	0
chr6	123548625	123548627	AAA	-	intronic	TRDN	.	.	.	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	.	402	432	251	308	129	996	0.500867	.	.	298899	not_provided|Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0759	0.1271	0.0471	0.0123	0.0159	0.0826	0.0694	0.0650	0.0027278	71	26028	rs762964151	0.0523	0.0759	0.0521	0.0526	0.1248	0.0519	0.0518	0.1208	0.1191	0.1248	0.0530	0.0891	0.0041	0.0612	0.0599	0.0514	0.0575	0.0356	0.0352	0.0357	0.0355	0.0349	0.0711	0.0344	0.0340	0.0690	0.0681	0.0711	0.0279	0.0338	0.0349	0	0.0165	0.0331	0.0209	0.0335	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	8792.76	13	chr6	123548624	.	TAAA	TAAAA,TA,T	8792.76	.	AC=4,22,2;AF=0.095,0.524,0.048;AN=42;BaseQRankSum=1.10;DP=624;ExcessHet=0.4640;FS=0.510;InbreedingCoeff=0.1491;MLEAC=3,22,2;MLEAF=0.071,0.524,0.048;MQ=60.00;MQRankSum=0.00;QD=24.91;ReadPosRankSum=-2.170e-01;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,17,0:17:51:.:.:615,615,615,51,51,0,615,615,51,615	3	0	1	0
chr6	152391580	152391580	-	AAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299476	Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0692	0.0572	0.0446	0.1472	0.0524	0.0572	0.0842	0.1106	0.0001921	5	26028	rs768125041	0.1080	0.1249	0.1087	0.1074	0.2456	0.1075	0.1073	0.2409	0.2389	0.0980	0.0497	0.0906	0.2456	0.0967	0.0955	0.1050	0.1115	0.1270	0.1623	0.1700	0.1628	0.1618	0.3566	0.1604	0.1596	0.3411	0.3349	0.1644	0.1811	0.1235	0.1686	0.3566	0.1421	0.1619	0.1554	0.1614	0.1968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7308.95	24	chr6	152391580	.	G	GA,GAAAAAA,GAAAAAAA,GAAAAA,GAAAA	7308.95	.	AC=1,8,7,3,3;AF=0.024,0.190,0.167,0.071,0.071;AN=42;BaseQRankSum=0.622;DP=985;ExcessHet=0.0204;FS=0.530;InbreedingCoeff=0.3977;MLEAC=1,8,6,3,3;MLEAF=0.024,0.190,0.143,0.071,0.071;MQ=60.00;MQRankSum=0.00;QD=19.44;ReadPosRankSum=-5.940e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/2:32,3,6,0,0,0:41:99:101,128,840,0,731,1291,203,922,1089,1214,203,922,1089,1214,1214,203,922,1089,1214,1214,1214	7	0	0	0
chr6	152391580	152391580	-	AAAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	306417	not_specified|Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0448	0.0344	0.0254	0.0783	0.0226	0.0343	0.0734	0.0880	0.0001537	4	26028	rs768125041	0.1086	0.1266	0.1084	0.1088	0.2137	0.1081	0.1079	0.2093	0.2075	0.0746	0.0628	0.0804	0.2137	0.0676	0.1152	0.1067	0.1079	0.1495	0.1938	0.2020	0.1976	0.1896	0.3497	0.1918	0.1909	0.3343	0.3281	0.1441	0.1000	0.1623	0.2110	0.3497	0.0922	0.2573	0.2180	0.2055	0.2643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7308.95	24	chr6	152391580	.	G	GA,GAAAAAA,GAAAAAAA,GAAAAA,GAAAA	7308.95	.	AC=1,8,7,3,3;AF=0.024,0.190,0.167,0.071,0.071;AN=42;BaseQRankSum=0.622;DP=985;ExcessHet=0.0204;FS=0.530;InbreedingCoeff=0.3977;MLEAC=1,8,6,3,3;MLEAF=0.024,0.190,0.143,0.071,0.071;MQ=60.00;MQRankSum=0.00;QD=19.44;ReadPosRankSum=-5.940e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/2:32,3,6,0,0,0:41:99:101,128,840,0,731,1291,203,922,1089,1214,203,922,1089,1214,1214,203,922,1089,1214,1214,1214	7	0	0	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|not_provided|DNAH11-related_disorder	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	81624.22	113	chr7	21867834	.	G	GT	81624.22	.	AC=33;AF=0.786;AN=42;BaseQRankSum=0.110;DP=2420;ExcessHet=4.7172;FS=0.684;InbreedingCoeff=-0.2727;MLEAC=33;MLEAF=0.786;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=0.921;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,116:116:99:1|1:21867834_G_GT:5163,349,0:21867834	0	12	9	0
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	Distal_spinal_muscular_atrophy|Peripheral_axonal_neuropathy|not_provided|Charcot-Marie-Tooth_disease_type_2	MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|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: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	10366.48	21	chr7	30633896	.	TAA	T,TA	10366.48	.	AC=12,18;AF=0.300,0.450;AN=40;BaseQRankSum=-5.890e-01;DP=815;ExcessHet=3.2961;FS=0.722;InbreedingCoeff=-0.2573;MLEAC=12,18;MLEAF=0.300,0.450;MQ=60.00;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.194;SOR=0.739	GT:AD:DP:GQ:PL	0/2:13,0,12:27:99:232,296,625,0,294,265	0	1	3	1
chr7	83162337	83162337	G	T	intronic	PCLO	.	.	.	.	.	419	1101	2	0	0	2	0.000907441	.	.	796081	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000599042	0.0015	0.0002	0	0	0	0.0027	0.0094	0.0002	0.0006015	93	154602	rs377422284	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0	0.0006	0.0029	0	8.178e-05	0.0023	0.0005	0.0008	0.0002	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0006	0.0006	9.617e-05	0	0.0004	0.0023	0	9.411e-05	0	0.0008	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	924.98	36	chr7	83162337	.	G	T	924.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=756;ExcessHet=0.0000;FS=9.923;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.92;ReadPosRankSum=-4.930e-01;SOR=1.981	GT:AD:DP:GQ:PL	0/1:32,30:62:99:939,0,857	20	0	1	0
chr7	103557156	103557156	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon38:c.C5618T:p.T1873I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	5	1441	66	10	0	86	0.0289757	.	.	177377	not_specified|Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|not_provided|RELN-related_disorder	MedGen:CN169374|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	0.005	B	0.007	B	0.000	D	0.995	D	1.67	L	1.88	T	-1.107	T	0.063	T	0.207	2.227	13.40	5.77	2.885	6.147	14.526	0.064	.	0.0023	0.00259585	0.0044	0.0006	0.0013	0	0.0011	0.0038	0.0033	0.0149	0.0039974	618	154602	rs41275239	0.0036	0.0036	0.0031	0.0041	0.0156	0.0035	0.0035	0.0149	0.0146	0.0005	0.0010	0.0089	2.522e-05	0.0008	0.0125	0.0029	0.0039	0.0156	0.0027	0.0027	0.0025	0.0029	0.0193	0.0025	0.0024	0.0161	0.0150	0.0006	0.0154	0.0009	0.0081	0	0.0004	0.0102	0.0033	0.0033	0.0193	0.409	0.10659	T	0.092	0.39954	T	0.001	0.12996	B	0.002	0.12992	B	0.000047	0.53742	D	0.167803	0.995457	0.42699	D	0.665	0.16292	N	1.88	0.23884	T	-1.15	0.29525	N	0.297	0.36884	-1.1066	0.03378	T	0.063	0.26029	T	10	0.006139159	0.00138	T	.	.	.	0.064	0.18567	.	.	0.151262610727	0.14761	0.36964579770135547	0.36878	0.185958582119	0.20903	0.539009332657	0.44306	T	0.057476	0.30576	T	-0.537201	0.00348	T	-0.532104	0.19077	T	0.015456933726748	0.00347	T	0.867413	0.56831	D	0.14101699	0.32510	0.17155404	0.39346	0.157696	0.35519	0.17927895	0.40651	-3.941	0.22918	T	0.10417546178359656	0.08118	0.088	0.11606	B	.;.;.	.;.;.	3.200901	0.43526	21.8	0.99059792804306646	0.51459	0.94579	0.61626	D	AEFBI	0.811231	0.73427	D	0.110212383688809	0.46938	2.926677	0.307183394079608	0.55960	3.758986	0.834191241572407	0.24747	0.536767	0.22168	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.77	5.77	0.91077	6.195000	0.72012	11.931000	0.99922	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.07:0.0:0.93:0.0	14.526	0.67476	901	0.24189	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	619.98	37	chr7	103557156	.	G	A	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.176;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-3.630e-01;SOR=0.902	GT:AD:DP:GQ:PL	0/1:23,23:46:99:634,0,624	20	0	1	0
chr7	103561820	103561820	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon35:c.C5344T:p.R1782C	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	194119	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|not_provided|See_cases	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.941	P	0.54	P	0.000	D	1.000	D	2.28	M	1.98	T	-1.060	T	0.099	T	0.587	4.973	29.0	5.93	2.814	7.394	20.336	0.173	0.019581890999	0.0008	0.000199681	0.0002	0.0012	0.0003	0	0	6.004e-05	0.0011	0.0002	0.0001617	25	154602	rs138576725	6.02e-05	6.02e-05	6.534e-05	5.501e-05	0.0014	4.962e-05	4.627e-05	0.0011	0.0009	0.0014	0.0001	0	0	0	0.0002	1.799e-05	0.0001	0.0001	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0010	0.0009	0.0012	0	0.0002	0	0	0	0	4.412e-05	0.0005	0.0002	0.104	0.37750	T	0.031	0.53788	D	0.941	0.52883	P	0.308	0.48825	B	0.000006	0.62929	D	0.111100	0.999988	0.54805	D	2.195	0.61839	M	1.98	0.21865	T	-1.66	0.39692	N	0.463	0.52208	-1.0597	0.11830	T	0.099	0.37034	T	10	0.0978826	0.17658	T	0.019582	0.41979	T	0.173	0.43840	.	.	0.15499578495	0.15088	0.5377606171714939	0.53701	0.504568041336	0.48730	0.235546335578	0.02403	T	0.126833	0.45347	T	-0.358187	0.04233	T	-0.322666	0.42281	T	0.116437543128571	0.14078	T	0.939406	0.77188	D	0.12524234	0.29365	0.13013415	0.31275	0.12524234	0.29365	0.13013415	0.31274	-12.6	0.87650	D	0.36647256744774304	0.46242	0.148	0.32637	B	.;.;.	.;.;.	3.791912	0.54583	23.5	0.99938288255536867	0.99698	0.99016	0.90001	D	AEFBI	0.951423	0.96597	D	0.664222789636098	0.77293	6.646826	0.713602011137291	0.83413	8.014667	0.999999884425708	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.93	5.93	0.95888	7.511000	0.80606	4.661000	0.44237	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	20.336	0.98740	896	0.25515	EGF-like domain;.;EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2273.98	34	chr7	103561820	.	G	A	2273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=880;ExcessHet=0.0000;FS=1.219;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=-6.250e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/1:83,83:166:99:2288,0,2203	20	0	1	0
chr7	103989357	103989359	GCC	-	UTR5	RELN	NM_173054:c.-1_-3delGGC;NM_005045:c.-1_-3delGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	301371	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs886061864	0.0017	0.0062	0.0017	0.0017	0.0071	0.0016	0.0016	0.0062	0.0058	0.0047	0.0071	0.0034	0.0030	0.0013	0.0015	0.0013	0.0026	0.0027	0.0016	0.0016	0.0015	0.0017	0.0040	0.0014	0.0014	0.0026	0.0025	0.0031	0	0.0022	0	0.0040	0.0003	0.0036	0.0006	0.0034	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	39463.68	54	chr7	103989356	.	TGCC	TGCCGCCGCC,T,TGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCC	39463.68	.	AC=26,1,4,1,2;AF=0.619,0.024,0.095,0.024,0.048;AN=42;BaseQRankSum=-4.950e-01;DP=1873;ExcessHet=3.5521;FS=0.662;InbreedingCoeff=-0.2353;MLEAC=25,1,4,1,2;MLEAF=0.595,0.024,0.095,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=33.19;ReadPosRankSum=-4.170e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/1:25,20,0,0,0,0:45:99:736,0,991,813,1051,1864,813,1051,1864,1864,813,1051,1864,1864,1864,813,1051,1864,1864,1864,1864	0	9	5	0
chr7	117548630	117548630	T	G	ncRNA_intronic	CFTR-AS1	.	.	.	.	YES	43	1429	23	1	26	51	0.00867152	0.9867	0.638	174036	not_provided|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Cystic_fibrosis	MedGen:C3661900|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic|other	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0103834	0.0107	0.0029	0.0124	0.0240	0.0010	0.0103	0.0111	0.0121	0.0049562	129	26028	rs73715573	0.0098	0.0107	0.0098	0.0098	0.0169	0.0097	0.0096	0.0142	0.0131	0.0036	0.0090	0.0381	0.0143	0.0013	0.0169	0.0093	0.0143	0.0099	0.0094	0.0094	0.0094	0.0094	0.0252	0.0090	0.0088	0.0215	0.0201	0.0032	0	0.0134	0.0481	0.0252	0.0013	0.0103	0.0103	0.0122	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	826.98	82	chr7	117548630	.	T	G	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.277;DP=1014;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.46;MQRankSum=1.81;QD=9.51;ReadPosRankSum=1.60;SOR=0.756	GT:AD:DP:GQ:PL	0/1:51,36:87:99:841,0,1310	20	0	1	0
chr7	117602811	117602811	C	G	intronic	CFTR	.	.	.	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	.	1	1478	43	0	0	43	0.0143381	.	.	44508	CFTR-related_disorder|not_provided|Hereditary_pancreatitis|not_specified|Cystic_fibrosis	.|MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:CN169374|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.00139776	0.0026	0.0002	0.0020	0	0	0.0038	0.0077	0.0015	0.0022833	353	154602	rs139379077	0.0019	0.0019	0.0017	0.0021	0.0331	0.0018	0.0018	0.0293	0.0278	0.0009	0.0030	0.0217	2.52e-05	0	0.0331	0.0013	0.0044	0.0016	0.0022	0.0022	0.0020	0.0024	0.0048	0.0020	0.0019	0.0040	0.0036	0.0002	0	0.0048	0.0248	0	0	0.0238	0.0020	0.0071	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1051.98	33	chr7	117602811	.	C	G	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.150e-01;DP=763;ExcessHet=0.0000;FS=4.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.398;SOR=0.367	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1066,0,1195	20	0	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	not_specified|Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|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	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.0	B	.	.	1.000	P	1.15	L	-3.2	D	-0.966	T	0.000	T	0.052	-0.251	2.795	-3.35	-1.287	-1.288	2.721	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.7619	57575.44	141	chr7	127611134	.	T	G	57575.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=0.218;DP=2509;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=23.77;ReadPosRankSum=0.240;SOR=0.702	GT:AD:DP:GQ:PL	1/1:0,124:124:99:3909,372,0	1	12	8	0
chr7	142750561	142750561	C	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.C47T:p.A16V,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	YES	0	788	734	0	0	734	0.317749	.	.	46925	Recurrent_pancreatitis|Hereditary_pancreatitis|not_provided	Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.002	B	0.019	N	0.986	N	0.825	L	-3.17	D	-0.577	T	0.542	D	0.671	0.269	5.455	0.989	0.076	0.750	7.043	0.524	.	.	.	0.0160	0.0479	0.0047	0.0021	0.0128	0.0164	0.0210	0.0113	0.0135833	2100	154602	rs202003805	0.2021	0.3260	0.1994	0.2049	0.3871	0.2013	0.2010	0.3798	0.3768	0.3871	0.3293	0.2961	0.1035	0.3682	0.1866	0.1904	0.2197	0.1188	0.3862	0.4088	0.3910	0.3812	0.4582	0.3832	0.3820	0.4521	0.4495	0.4582	0.3653	0.3885	0.3815	0.1497	0.3882	0.3266	0.3733	0.3802	0.2128	0.566	0.06502	T	0.351	0.19721	T	0.0	0.02946	B	0.002	0.06944	B	0.018559	0.27457	N	0.446479	0.985655	0.24690	N	0.625	0.15840	N	-3.17	0.93054	D	-0.01	0.07155	N	0.072	0.08366	-0.5774	0.65720	T	0.542	0.83122	D	10	0.0054525733	0.00120	T	.	.	.	0.524	0.79825	.	.	.	.	0.5690087331218414	0.56828	0.162344706958	0.18315	0.232086211443	0.02126	T	0.208591	0.56856	T	0.119743	0.66346	D	-0.0657736	0.65926	T	0.0260900631546974	0.01419	T	.	.	.	0.016501123	0.00202	0.035258744	0.02744	0.015689086	0.00152	0.033967946	0.02380	-4.735	0.33824	T	.	.	0.128	0.27373	B	.;.;.	.;.;.	0.257558	0.06365	2.827	0.30547631428140182	0.01676	0.01640	0.05278	N	AEFDBI	0.139100	0.26059	N	-1.28146295350348	0.03898	0.1749983	-1.30565312385982	0.04356	0.2053128	0.136983366606344	0.17200	0.549168	0.22868	0	0.627178	0.54094	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	3.49	0.989	0.18920	0.485000	0.22033	.	.	-1.601000	0.00893	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2125:0.0:0.7875	7.043	0.24210	776	0.48302	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.3571	22149.38	121	chr7	142750561	.	C	T	22149.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.697e+00;DP=2539;ExcessHet=17.4423;FS=2.788;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=56.74;MQRankSum=-9.685e+00;QD=9.67;ReadPosRankSum=-3.250e-01;SOR=0.501	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,31:158:99:0|1:142750561_C_T:803,0,5037:142750561	6	0	15	0
chr8	67483807	67483807	C	T	exonic	CPA6	.	nonsynonymous SNV	CPA6:NM_020361:exon8:c.G799A:p.G267R,	Epilepsy, familial temporal lobe, 5, Autosomal dominant;Febrile seizures, familial, 11, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	265506	Familial_temporal_lobe_epilepsy_5|Febrile_seizures,_familial,_11|Global_developmental_delay|CPA6-related_disorder|not_provided|Confusion|Focal-onset_seizure|Palpitations|Irregular_menstruation|Abnormal_emotional_state|Periventricular_heterotopia|Seizure|Childhood_epilepsy_with_centrotemporal_spikes	MONDO:MONDO:0013741,MedGen:C3280730,OMIM:614417|MONDO:MONDO:0024566,MedGen:C3280734,OMIM:614418|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000731,Human_Phenotype_Ontology:HP:0001289,MedGen:C0009676|Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495|Human_Phenotype_Ontology:HP:0001962,MedGen:C0030252|Human_Phenotype_Ontology:HP:0000858,MedGen:C0156404|Human_Phenotype_Ontology:HP:0100851,MedGen:C4020949|Human_Phenotype_Ontology:HP:0002272,Human_Phenotype_Ontology:HP:0007165,MedGen:C5399973|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.22	H	1.97	T	0.432	D	0.533	D	0.988	5.016	29.6	5.18	2.567	7.071	17.836	0.725	0.252068408815	0.0032	0.00139776	0.0021	0.0038	0.0018	0	0.0002	0.0028	0.0066	0.0001	0.0021086	326	154602	rs61738009	0.0029	0.0029	0.0030	0.0028	0.0034	0.0028	0.0028	0.0033	0.0033	0.0033	0.0025	0	0	0.0002	0.0033	0.0034	0.0028	0.0002	0.0025	0.0025	0.0028	0.0022	0.0032	0.0023	0.0022	0.0028	0.0027	0.0032	0	0.0014	0	0.0002	9.414e-05	0	0.0031	0.0047	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.053233	1	0.81001	D	4.055	0.97073	H	0.59	0.53943	T	-7.56	0.95216	D	0.993	0.99863	0.432	0.89566	D	0.533	0.82704	D	10	0.13679942	0.26025	T	0.252068	0.89157	D	0.725	0.90324	0.878	0.96734	0.861870208621	0.86053	0.960238203642367	0.96009	0.25006603729	0.27585	0.679282546043	0.64166	T	0.205276	0.56428	T	0.023973	0.54916	T	0.260186	0.86099	D	0.162356426692107	0.18043	T	0.931907	0.74605	D	0.94777673	0.96039	0.95916945	0.98926	0.94777673	0.96040	0.95916945	0.98927	-13.193	0.90141	D	0.8711783554657455	0.93183	0.987	0.92633	P	.	.	5.286792	0.88766	29.7	0.99936485934862673	0.99621	0.96562	0.69761	D	AEFBI	0.874928	0.79807	D	1.0291666116735	0.96572	14.86257	0.91802455739627	0.96310	14.54442	0.999999600216836	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.18	5.18	0.71140	7.472000	0.79998	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	17.836	0.88608	69	0.97055	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1558.98	35	chr8	67483807	.	C	T	1558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.904e+00;DP=831;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.46;ReadPosRankSum=0.164;SOR=0.798	GT:AD:DP:GQ:PL	0/1:81,68:149:99:1573,0,2120	20	0	1	0
chr8	132480670	132480670	-	C	UTR5	KCNQ3	NM_004519:c.-139_-138insG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	.	75	142	3	2	4	11	0.024055	.	.	313038	Benign_neonatal_seizures|not_provided|Benign_Neonatal_Epilepsy	MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900|MedGen:C0270851	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs879019805	0.0992	0.0754	0.0988	0.0996	0.1176	0.0985	0.0982	0.1020	0.0992	0.0987	0.0472	0.0809	0.0113	0.0962	0.1176	0.1002	0.0951	0.1026	0.0916	0.0897	0.0944	0.0887	0.1035	0.0902	0.0896	0.1013	0.1004	0.0952	0.0571	0.0558	0.0762	0.0041	0.0991	0.1106	0.1035	0.0927	0.0911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2331.15	20	chr8	132480670	.	A	AC,ACC	2331.15	.	AC=7,8;AF=0.167,0.190;AN=42;BaseQRankSum=0.059;DP=417;ExcessHet=0.8717;FS=11.366;InbreedingCoeff=0.1346;MLEAC=7,8;MLEAF=0.167,0.190;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-5.200e-02;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,6,0:14:99:0|1:132480670_A_AC:129,0,294,153,312,465:132480670	9	0	7	0
chr8	132480670	132480670	-	CC	UTR5	KCNQ3	NM_004519:c.-139_-138insGG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	.	75	142	3	2	4	11	0.024055	.	.	307908	Benign_Neonatal_Epilepsy|Benign_neonatal_seizures|not_provided	MedGen:C0270851|MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008068	21	26028	rs879019805	0.1321	0.1013	0.1313	0.1330	0.1680	0.1314	0.1311	0.1626	0.1604	0.1407	0.1001	0.1405	0.0618	0.1292	0.1494	0.1314	0.1335	0.1680	0.1700	0.1748	0.1676	0.1725	0.2214	0.1680	0.1672	0.2089	0.2038	0.1562	0.0893	0.1840	0.2043	0.0990	0.1830	0.2250	0.1740	0.1618	0.2214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2331.15	20	chr8	132480670	.	A	AC,ACC	2331.15	.	AC=7,8;AF=0.167,0.190;AN=42;BaseQRankSum=0.059;DP=417;ExcessHet=0.8717;FS=11.366;InbreedingCoeff=0.1346;MLEAC=7,8;MLEAF=0.167,0.190;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-5.200e-02;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,6,0:14:99:0|1:132480670_A_AC:129,0,294,153,312,465:132480670	9	0	7	0
chr8	144414110	144414110	C	T	intronic	SLC39A4	.	.	.	Acrodermatitis enteropathica, Autosomal recessive	.	1	1518	3	0	0	3	0.000987167	.	.	308340	not_provided|Hereditary_acrodermatitis_enteropathica	MedGen:C3661900|MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100,Orphanet:37	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00199681	0.0007	0.0046	0.0021	0	0	0.0005	0.0051	0	0.0004269	66	154602	rs200673705	0.0004	0.0004	0.0004	0.0004	0.0040	0.0004	0.0004	0.0034	0.0032	0.0040	0.0018	0	0	0	0.0035	0.0003	0.0015	6.272e-05	0.0014	0.0014	0.0015	0.0013	0.0035	0.0013	0.0012	0.0031	0.0029	0.0035	0	0.0031	0	0	0	0	0.0003	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	756.98	41	chr8	144414110	.	C	T	756.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.986;DP=904;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.944;SOR=0.765	GT:AD:DP:GQ:PL	0/1:34,27:61:99:771,0,914	20	0	1	0
chr9	2622147	2622155	CGGCGGCGG	-	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	134	297	245	137	709	1228	0.466307	.	.	274730	not_specified|not_provided|Congenital_cerebellar_hypoplasia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	30379.9	49	chr9	2622146	.	ACGGCGGCGG	ACGGCGGCGGCGG,A	30379.9	.	AC=17,12;AF=0.405,0.286;AN=42;BaseQRankSum=0.034;DP=1277;ExcessHet=1.3217;FS=0.563;InbreedingCoeff=-0.0027;MLEAC=17,12;MLEAF=0.405,0.286;MQ=60.00;MQRankSum=0.00;QD=28.77;ReadPosRankSum=0.770;SOR=0.643	GT:AD:DP:GQ:PL	1/1:0,38,0:38:99:1708,114,0,1708,114,1708	2	5	5	0
chr9	2718848	2718848	G	A	exonic	KCNV2	.	nonsynonymous SNV	KCNV2:NM_133497:exon1:c.G1109A:p.G370D,	Retinal cone dystrophy 3B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1377361	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	1.0	D	0.991	D	0.000	D	1.000	D	1.66	L	-4.99	D	1.046	D	0.946	D	0.755	3.887	19.76	5.07	2.352	9.076	18.485	0.788	0.275722925334	.	0.000399361	0.0002	0	0	0	0	0	0	0.0013	0.0001552	24	154602	rs534563578	7e-05	6.977e-05	3.689e-05	0.0001	0.0011	5.866e-05	5.475e-05	0.0009	0.0009	0	0	0	0	0	0	3.597e-06	4.971e-05	0.0011	7.219e-05	7.217e-05	3.854e-05	0.0001	0.0023	3.967e-05	3.124e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.085	0.32769	T	0.045	0.49390	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.115	0.58683	M	-4.99	0.98507	D	-1.15	0.29525	N	0.678	0.68516	1.046	0.98041	D	0.946	0.98229	D	10	0.29073226	0.46654	T	0.275723	0.90047	D	0.788	0.92988	0.609	0.74182	0.984887991515	0.98472	0.9084740831747897	0.90820	0.142398766694	0.16057	0.65465760231	0.60647	T	0.362108	0.72807	T	0.063189	0.60013	T	0.277457	0.86988	D	0.254182309898512	0.23059	T	0.911709	0.68653	D	0.36590496	0.58281	0.42364335	0.66228	0.36192733	0.57983	0.34612527	0.60284	-8.644	0.65378	D	0.3998655109372717	0.49183	0.266	0.50025	B	.	.	5.189716	0.87036	29.1	0.99811459249329482	0.89531	0.97290	0.73825	D	AEFDBCI	0.919428	0.88994	D	0.654966684745378	0.76692	6.533455	0.650282438082134	0.78632	6.915357	0.999997041899991	0.74766	0.713056	0.82018	0	0.446627	0.06534	0	0.608524	0.38960	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	9.198000	0.94138	11.758000	0.95564	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:0.0:1.0:0.0	18.485	0.90773	905	0.23532	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1197.98	37	chr9	2718848	.	G	A	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.447;DP=867;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-2.043e+00;SOR=0.588	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1212,0,1386	20	0	1	0
chr9	77344204	77344204	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon50:c.G6961A:p.E2321K	Choreoacanthocytosis, Autosomal recessive	YES	7	1499	15	1	0	17	0.00563847	.	.	313408	VPS13A-related_disorder|Chorea-acanthocytosis|not_provided	.|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.88	T	1.0	D	0.985	D	0.000	D	1.000	D	1.445	L	1.53	T	-1.052	T	0.140	T	0.8	1.962	12.52	5.96	2.830	6.960	19.382	0.206	0.0254008848318	7.7e-05	.	0.0006	0	8.639e-05	0	0	0.0002	0.0011	0.0034	0.0004463	69	154602	rs370401336	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0002	0.0034	0.0032	0	0	3.831e-05	5.055e-05	0	0.0016	4.411e-05	0.0003	0.0037	0.0001	0.0001	5.144e-05	0.0002	0.0027	8.175e-05	6.73e-05	0.0016	0.0013	0	0	0	0	0	0	0	7.353e-05	0.0005	0.0027	0.109	0.29288	T	0.15	0.40110	T	0.999	0.90584	D	0.939	0.76457	D	0.000001	0.84330	D	0.055231	1	0.81001	D	2.25	0.63811	M	1.53	0.30401	T	-1.13	0.29114	N	0.809	0.82358	-1.0517	0.13926	T	0.140	0.45847	T	10	0.008782804	0.00199	T	0.025401	0.48370	D	0.206	0.49396	.	.	0.651195803754	0.64829	0.6882308993755194	0.68763	0.629044018117	0.56961	0.561564683914	0.47489	T	0.11496	0.43318	T	-0.228054	0.16906	T	-0.103097	0.63156	T	0.127359509468079	0.15136	T	0.906209	0.66975	D	0.18048228	0.39171	0.22905059	0.47965	0.18048228	0.39170	0.22905059	0.47964	-6.019	0.58192	T	.	.	0.086	0.10594	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.195196	0.87139	29.1	0.92037929451987821	0.21379	0.98675	0.85440	D	AEFBI	0.743335	0.68667	D	0.415732734553668	0.62287	4.442098	0.476276528578892	0.66420	4.949937	0.999999997492236	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.96	5.96	0.96695	7.036000	0.76250	9.879000	0.82185	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.382	0.94532	563	0.71062	.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain;.;.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	1505.11	34	chr9	77344204	.	G	A	1505.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.732;DP=793;ExcessHet=0.1072;FS=0.615;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=1.44;SOR=0.628	GT:AD:DP:GQ:PL	0/1:44,35:79:99:737,0,936	19	0	2	0
chr9	133568656	133568656	G	A	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon15:c.G2142A:p.S714S	Geleophysic dysplasia 1, Autosomal recessive	.	0	1201	295	26	0	347	0.126228	.	.	311645	Geleophysic_dysplasia_1|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00315	487	154602	rs11542920	0.0374	0.0374	0.0346	0.0402	0.1108	0.0371	0.0370	0.1090	0.1082	0.0228	0.0220	0.0601	0.0816	0.0235	0.1050	0.0308	0.0399	0.1108	0.0327	0.0327	0.0321	0.0334	0.1063	0.0320	0.0317	0.0987	0.0957	0.0246	0.0230	0.0275	0.0568	0.0623	0.0207	0.0748	0.0320	0.0322	0.1063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.09524	5700.9	37	chr9	133568656	.	G	A	5700.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.967;DP=1022;ExcessHet=0.0082;FS=4.240;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=16.48;ReadPosRankSum=0.425;SOR=0.910	GT:AD:DP:GQ:PL	0/1:66,39:105:99:917,0,1716	18	1	2	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.5476	33750.98	102	chr9	133569476	.	A	G	33750.98	.	AC=23;AF=0.548;AN=42;BaseQRankSum=1.00;DP=1946;ExcessHet=0.5442;FS=0.563;InbreedingCoeff=0.1350;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=19.53;ReadPosRankSum=0.324;SOR=0.714	GT:AD:DP:GQ:PL	1/1:0,91:91:99:2882,273,0	5	7	9	0
chr9	133569488	133569488	C	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.C2325G:p.S775S	Geleophysic dysplasia 1, Autosomal recessive	.	0	1194	298	30	0	358	0.130371	.	.	307339	Geleophysic_dysplasia_1|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028719	444	154602	rs2301606	0.0375	0.0376	0.0348	0.0403	0.1106	0.0373	0.0372	0.1087	0.1079	0.0229	0.0219	0.0599	0.0821	0.0235	0.1056	0.0310	0.0403	0.1106	0.0329	0.0329	0.0322	0.0336	0.1062	0.0321	0.0318	0.0986	0.0956	0.0246	0.0230	0.0276	0.0567	0.0634	0.0207	0.0719	0.0323	0.0321	0.1062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.09524	4402.9	43	chr9	133569488	.	C	G	4402.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.992;DP=962;ExcessHet=0.0082;FS=0.489;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=17.68;ReadPosRankSum=1.10;SOR=0.736	GT:AD:DP:GQ:PL	0/1:45,42:87:99:964,0,1149	18	1	2	0
chr9	133570351	133570351	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon17:c.C2436T:p.R812R	Geleophysic dysplasia 1, Autosomal recessive	.	3	1357	159	3	0	165	0.0573116	.	.	317129	Geleophysic_dysplasia_1|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064423	996	154602	rs61733946	0.1006	0.0983	0.1027	0.0984	0.1183	0.1001	0.0999	0.1177	0.1175	0.0162	0.0540	0.0723	0.0004	0.0362	0.0778	0.1183	0.0881	0.0160	0.0710	0.0710	0.0762	0.0655	0.1170	0.0699	0.0694	0.1149	0.1140	0.0223	0.0286	0.0685	0.0669	0.0008	0.0318	0.0952	0.1170	0.0776	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.07143	2516.68	34	chr9	133570351	.	C	T	2516.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.822;DP=837;ExcessHet=0.3300;FS=1.716;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=0.259;SOR=0.840	GT:AD:DP:GQ:PL	0/1:31,27:58:99:670,0,730	18	0	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	not_provided|Hypoparathyroidism,_deafness,_renal_disease_syndrome	MedGen:CN517202|MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	4713.46	6	chr10	8074278	.	G	GA	4713.46	.	AC=33;AF=0.786;AN=42;BaseQRankSum=-3.280e-01;DP=254;ExcessHet=0.0874;FS=7.524;InbreedingCoeff=0.1699;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=24.05;ReadPosRankSum=-3.170e-01;SOR=0.181	GT:AD:DP:GQ:PL	1/1:0,11:11:33:310,33,0	2	14	5	0
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	Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2|not_specified|not_provided|Permanent_neonatal_diabetes_mellitus|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome	MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.022	B	0.011	B	0.000	N	0.002	P	1.78	L	-3.56	D	-0.925	T	0.000	T	0.081	2.924	15.74	3.02	0.367	4.098	9.307	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	1	0	0.7381	16735.53	37	chr10	23193706	.	T	C	16735.53	.	AC=31;AF=0.738;AN=42;BaseQRankSum=1.78;DP=712;ExcessHet=0.0338;FS=0.000;InbreedingCoeff=0.3842;MLEAC=31;MLEAF=0.738;MQ=60.00;MQRankSum=0.00;QD=28.90;ReadPosRankSum=-6.150e-01;SOR=0.760	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1158,90,0	3	13	5	0
chr10	52771482	52771482	G	A	exonic	MBL2	.	nonsynonymous SNV	MBL2:NM_000242:exon1:c.C154T:p.R52C	.	YES	425	935	151	11	0	173	0.0846794	.	.	29391	not_provided|Cystic_fibrosis|Mannose-binding_lectin_deficiency	MedGen:C3661900|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MONDO:MONDO:0013714,MedGen:C3280586,OMIM:614372	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.977	D	0.033	N	0.993	A	3.335	M	-3.2	D	0.062	D	0.432	T	0.403	3.353	17.29	3.07	1.263	1.121	9.112	0.527	.	0.0498	0.0271565	0.0569	0.0110	0.0264	0.0002	0.0584	0.0761	0.0551	0.0594	0.0560536	8666	154602	rs5030737	0.0659	0.0659	0.0653	0.0665	0.0735	0.0656	0.0654	0.0712	0.0711	0.0099	0.0272	0.1038	0.0002	0.0576	0.0735	0.0717	0.0612	0.0602	0.0494	0.0494	0.0501	0.0486	0.0722	0.0484	0.0481	0.0705	0.0699	0.0118	0.1567	0.0387	0.0991	0.0004	0.0609	0.0272	0.0722	0.0498	0.0567	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.977	0.73820	D	0.032677	0.24997	N	0.247365	0.993411	0.41932	A	3.445	0.92174	M	-3.2	0.93231	D	-4.94	0.81835	D	0.091	0.06990	0.062	0.83463	D	0.432	0.77374	T	9	0.0030004382	0.00049	T	.	.	.	0.527	0.80007	.	.	.	.	0.42006838530462065	0.41922	0.502214769166	0.48587	0.327009618282	0.14483	T	0.618358	0.88002	D	-0.221839	0.17743	T	-0.0280537	0.68498	D	0.0674288808456765	0.08286	T	0.974003	0.90706	D	0.5926832	0.72296	0.43889147	0.67259	0.5926832	0.72297	0.45634174	0.68400	-9.391	0.70179	D	0.7007590763589189	0.77970	0.236	0.46915	B	.	.	4.056622	0.60165	24.2	0.99917815049540892	0.98518	0.09150	0.14963	N	AEFBCI	0.132216	0.25144	N	0.380477454125213	0.60365	4.224615	0.19217995272698	0.49416	3.145189	0.999376067672215	0.39355	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	3.07	0.34476	0.972000	0.29007	2.800000	0.34847	0.676000	0.76740	0.002000	0.15269	0.165000	0.23294	0.959000	0.51448	0.0:0.0:0.7818:0.2182	9.112	0.35898	901	0.24189	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	1	1	1	0	0	0	0	0	0	0	0	0	0	0.09524	5229.92	34	chr10	52771482	.	G	A	5229.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.332;DP=1141;ExcessHet=0.6776;FS=1.775;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=-7.600e-02;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,66:136:99:.:.:1625,0,1676	17	0	4	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	323868	not_specified|not_provided|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy	MedGen:CN169374|MedGen:C3661900|.|MedGen:CN239310|MedGen:CN230736|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	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33249.08	59	chr10	90918983	.	AATAAATAAATATATATATATATAT	AATATAT,*,A	33249.08	.	AC=26,3,2;AF=0.619,0.071,0.048;AN=42;BaseQRankSum=0.327;DP=952;ExcessHet=0.0338;FS=8.387;InbreedingCoeff=0.3293;MLEAC=27,3,2;MLEAF=0.643,0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=29.53;ReadPosRankSum=1.87;SOR=0.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,35,0,0:39:56:0|1:90918983_AATAAATAAATATATATAT_A:1439,0,56,1451,163,1614,1451,163,1614,1614:90918983	3	10	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	17071.38	42	chr10	123053169	.	AT	A	17071.38	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-3.790e-01;DP=1002;ExcessHet=0.2785;FS=0.910;InbreedingCoeff=0.1451;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=23.74;ReadPosRankSum=0.164;SOR=0.579	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1057,114,0	1	15	5	0
chr11	1754054	1754054	C	T	exonic	CTSD	.	synonymous SNV	CTSD:NM_001909:exon7:c.G912A:p.P304P,	Ceroid lipofuscinosis, neuronal, 10, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	140743	Neuronal_ceroid_lipofuscinosis|Neuronal_ceroid_lipofuscinosis_10|CTSD-related_disorder|Inborn_genetic_diseases|not_specified|not_provided	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337|.|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.981	T	0.103	T	.	1.228	9.980	-5.79	-1.910	-0.815	3.413	0.018	.	0.0022	0.000998403	0.0023	0.0026	0.0035	0	0.0040	0.0026	0.0053	0.0008	0.0020634	319	154602	rs140238987	0.0029	0.0029	0.0030	0.0028	0.0036	0.0029	0.0028	0.0032	0.0031	0.0027	0.0036	3.832e-05	0	0.0034	0.0002	0.0032	0.0029	0.0009	0.0026	0.0026	0.0028	0.0024	0.0035	0.0024	0.0023	0.0027	0.0025	0.0022	0	0.0035	0	0	0.0035	0	0.0030	0.0052	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	1	1	0.02381	2128.98	34	chr11	1754054	.	C	T	2128.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.852;DP=968;ExcessHet=0.0000;FS=0.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.59;ReadPosRankSum=1.82;SOR=0.703	GT:AD:DP:GQ:PL	0/1:43,78:121:99:2143,0,989	20	0	1	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	Type_1_diabetes_mellitus_2|Maturity-onset_diabetes_of_the_young_type_10|Diabetes_mellitus,_permanent_neonatal_4|Autosomal_recessive_DOPA_responsive_dystonia|Transient_Neonatal_Diabetes,_Dominant/Recessive|Hyperproinsulinemia|Diabetes_mellitus_type_1|Maturity_onset_diabetes_mellitus_in_young|not_provided	MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MedGen:CN239353|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	P	.	.	-4.58	D	-0.893	T	0.000	T	0.193	-0.854	0.541	-3.76	-2.608	0.411	2.503	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	78587.44	179	chr11	2159830	.	T	G	78587.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=0.199;DP=3573;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=22.65;ReadPosRankSum=0.179;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,71:145:99:0|1:2159830_T_G:1806,0,2799:2159830	1	12	8	0
chr11	5254939	5254939	G	A	upstream	HBG2	dist=158	.	.	Cyanosis, transient neonatal, Autosomal dominant;Fetal hemoglobin quantitative trait locus 1, Autosomal dominant	.	611	857	47	7	0	61	0.0343662	.	.	30023	not_specified|Hereditary_persistence_of_fetal_hemoglobin|not_provided	MedGen:CN169374|MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0479484	1248	26028	rs1060499525	0.2183	0.1733	0.2171	0.2194	0.2475	0.2171	0.2166	0.2459	0.2452	0.1238	0.1610	0.1566	0.1167	0.1910	0.1586	0.2475	0.2074	0.2141	0.2071	0.2107	0.2105	0.2035	0.2630	0.2051	0.2043	0.2598	0.2584	0.1428	0.2024	0.1805	0.1739	0.1099	0.1876	0.1837	0.2630	0.2108	0.2288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	1723.79	5	chr11	5254939	.	G	A	1723.79	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.190e-01;DP=326;ExcessHet=7.7275;FS=5.625;InbreedingCoeff=-0.3663;MLEAC=11;MLEAF=0.262;MQ=54.87;MQRankSum=0.00;QD=7.18;ReadPosRankSum=-3.700e-01;SOR=0.437	GT:AD:DP:GQ:PL	0/1:4,2:6:61:61,0,81	10	0	11	0
chr11	17386478	17386478	A	G	UTR3	KCNJ11	NM_001166290:c.*441T>C;NM_000525:c.*441T>C;NM_001377297:c.*441T>C;NM_001377296:c.*441T>C	.	.	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	.	1026	376	50	70	0	190	0.201699	.	.	326654	Maturity-onset_diabetes_of_the_young_type_13|not_provided|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2|Type_2_diabetes_mellitus	MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|MedGen:C3661900|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46885	.	.	.	.	.	.	.	.	0.0682527	10552	154602	rs2285676	0.3367	0.1870	0.3337	0.3395	0.5065	0.3296	0.3267	0.4534	0.4328	0.5065	0.3326	0.2651	0.4716	0.2585	0.3667	0.3227	0.3371	0.2928	0.4342	0.4345	0.4324	0.4362	0.5705	0.4315	0.4303	0.5645	0.5619	0.5705	0.3062	0.3914	0.3000	0.5583	0.3666	0.4048	0.3763	0.4028	0.3654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	738.48	2	chr11	17386478	.	A	G	738.48	.	AC=7;AF=0.206;AN=34;BaseQRankSum=1.38;DP=110;ExcessHet=0.0154;FS=3.594;InbreedingCoeff=0.1777;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-1.560e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/1:2,2:4:37:65,0,37	12	2	3	4
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	Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	25022.16	47	chr11	17386857	.	C	T	25022.16	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.185;DP=1241;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=23.00;ReadPosRankSum=-2.670e-01;SOR=0.728	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1841,156,0	3	9	9	0
chr11	17393168	17393168	T	C	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	.	158	484	576	304	0	1184	0.550186	.	.	167552	Transitory_neonatal_diabetes_mellitus|not_specified|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MedGen:CN169374|MedGen:C3661900|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|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3721	0.35623	0.3439	0.4529	0.4653	0.1359	0.2002	0.3362	0.3884	0.3834	0.0001153	3	26028	rs1109591	0.3344	0.3348	0.3329	0.3359	0.5002	0.3336	0.3332	0.4849	0.4787	0.4563	0.4588	0.3945	0.1494	0.2029	0.5002	0.3319	0.3431	0.3829	0.3623	0.3624	0.3693	0.3550	0.4494	0.3597	0.3587	0.4405	0.4382	0.4458	0.2301	0.4494	0.3942	0.1308	0.1965	0.4521	0.3337	0.3912	0.3652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	26070.0	74	chr11	17393168	.	T	C	26070.0	.	AC=23;AF=0.548;AN=42;BaseQRankSum=3.30;DP=1375;ExcessHet=2.1081;FS=1.364;InbreedingCoeff=-0.0572;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=21.63;ReadPosRankSum=-4.590e-01;SOR=0.834	GT:AD:DP:GQ:PL	0/1:43,32:75:99:938,0,1169	4	6	11	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	Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|not_specified|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	16421.3	35	chr11	17395957	.	A	G	16421.3	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.977;DP=1002;ExcessHet=0.2144;FS=1.432;InbreedingCoeff=0.2364;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=22.53;ReadPosRankSum=-2.190e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:21,22:43:99:622,0,586	7	6	8	0
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	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3380.8	25	chr11	17396823	.	C	A	3380.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-1.127e+00;DP=444;ExcessHet=1.5138;FS=4.621;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=19.77;ReadPosRankSum=0.331;SOR=0.351	GT:AD:DP:GQ:PL	0/1:13,13:26:99:430,0,441	12	1	8	0
chr11	17408375	17408375	T	C	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	.	7	314	660	541	0	1742	0.735021	.	.	167542	Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|not_specified|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6088	0.614617	0.6125	0.6167	0.7059	0.7429	0.5248	0.6255	0.6038	0.46	0.601991	93069	154602	rs2106865	0.6116	0.6114	0.6155	0.6077	0.7147	0.6106	0.6101	0.7077	0.7048	0.6184	0.6958	0.6590	0.7147	0.5287	0.6211	0.6176	0.6245	0.4682	0.6174	0.6175	0.6250	0.6094	0.7228	0.6140	0.6127	0.7034	0.6955	0.6148	0.7252	0.6494	0.6653	0.7228	0.5244	0.6918	0.6235	0.6340	0.4757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	19895.14	44	chr11	17408375	.	T	C	19895.14	.	AC=27;AF=0.643;AN=42;BaseQRankSum=-3.920e-01;DP=1066;ExcessHet=0.1361;FS=0.000;InbreedingCoeff=0.2741;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=22.01;ReadPosRankSum=-7.820e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/1:43,32:75:99:789,0,1164	4	10	7	0
chr11	17414293	17414293	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	.	703	213	106	500	0	1106	0.721932	.	.	1166871	not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2	MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.904153	.	.	.	.	.	.	.	.	0.865875	22537	26028	rs4148632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8922	0.8921	0.8924	0.8919	0.9655	0.8882	0.8865	0.9576	0.9543	0.9655	0.9134	0.8980	0.8767	0.9122	0.8735	0.8163	0.8525	0.8925	0.8324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	4454.89	6	chr11	17414293	.	A	G	4454.89	.	AC=32;AF=0.800;AN=40;BaseQRankSum=-1.256e+00;DP=166;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=34;MLEAF=0.850;MQ=60.00;MQRankSum=0.00;QD=28.93;ReadPosRankSum=1.38;SOR=1.025	GT:AD:DP:GQ:PL	1/1:0,11:11:33:363,33,0	2	14	4	1
chr11	17414389	17414389	G	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	.	87	248	463	724	0	1911	0.793934	.	.	1166872	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	0.146059	22581	154602	rs4148631	0.7539	0.7531	0.7539	0.7539	0.8624	0.7526	0.7521	0.8546	0.8514	0.5784	0.8469	0.7895	0.8624	0.7273	0.7046	0.7512	0.7604	0.7470	0.7155	0.7155	0.7141	0.7170	0.8819	0.7120	0.7105	0.8605	0.8518	0.5817	0.8136	0.7993	0.7954	0.8819	0.7282	0.7415	0.7540	0.7427	0.7632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	15879.44	27	chr11	17414389	.	G	A	15879.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=2.19;DP=577;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=30.13;ReadPosRankSum=0.291;SOR=0.668	GT:AD:DP:GQ:PL	0/1:6,12:18:99:377,0,159	1	12	8	0
chr11	17414419	17414419	G	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	.	19	213	530	760	0	2050	0.827948	.	.	1166873	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746605	.	.	.	.	.	.	.	.	0.146842	22702	154602	rs4148630	0.7523	0.7519	0.7521	0.7525	0.8627	0.7511	0.7506	0.8550	0.8518	0.5795	0.8463	0.7888	0.8627	0.7268	0.7049	0.7499	0.7602	0.7471	0.7153	0.7153	0.7139	0.7168	0.8826	0.7118	0.7103	0.8612	0.8524	0.5812	0.8136	0.7993	0.7953	0.8826	0.7283	0.7415	0.7538	0.7427	0.7630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	23788.44	42	chr11	17414419	.	G	A	23788.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=-1.339e+00;DP=959;ExcessHet=1.5138;FS=1.823;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=26.88;ReadPosRankSum=0.480;SOR=0.916	GT:AD:DP:GQ:PL	0/1:13,19:32:99:530,0,357	1	12	8	0
chr11	17415389	17415389	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	93	473	950	0	2373	0.927315	.	.	1166874	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8933	0.903754	0.8760	0.9698	0.9072	0.9098	0.8748	0.8620	0.8614	0.8369	0.0257799	671	26028	rs4148626	0.8556	0.8554	0.8570	0.8542	0.9669	0.8544	0.8538	0.9580	0.9544	0.9669	0.9065	0.8766	0.8902	0.8652	0.8093	0.8498	0.8683	0.8281	0.8916	0.8915	0.8919	0.8912	0.9632	0.8876	0.8859	0.9553	0.9520	0.9632	0.9134	0.8977	0.8767	0.9121	0.8731	0.8163	0.8526	0.8931	0.8328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	33694.02	59	chr11	17415389	.	A	G	33694.02	.	AC=34;AF=0.810;AN=42;BaseQRankSum=1.83;DP=1416;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=34;MLEAF=0.810;MQ=60.00;MQRankSum=0.00;QD=25.03;ReadPosRankSum=0.208;SOR=0.696	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1874,183,0	1	14	6	0
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H	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	.	8	536	705	273	0	1251	0.538528	.	.	167532	not_specified|Hereditary_hyperinsulinism|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Permanent_neonatal_diabetes_mellitus|not_provided|Cerebral_edema|Diabetes_mellitus,_permanent_neonatal_3	MedGen:CN169374|.|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4587	0.429912	0.4311	0.4812	0.3021	0.2844	0.4180	0.4470	0.4546	0.5041	0.426075	65872	154602	rs1799857	0.4459	0.4459	0.4447	0.4471	0.4959	0.4450	0.4446	0.4920	0.4904	0.4747	0.3195	0.4445	0.3087	0.4107	0.4108	0.4535	0.4380	0.4959	0.4417	0.4417	0.4437	0.4395	0.4867	0.4389	0.4377	0.4745	0.4722	0.4801	0.3516	0.3803	0.4438	0.3002	0.4127	0.3537	0.4459	0.4296	0.4867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.4762	39176.3	120	chr11	17430945	.	G	A	39176.3	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.597;DP=2193;ExcessHet=0.2144;FS=0.599;InbreedingCoeff=0.2364;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=20.49;ReadPosRankSum=0.183;SOR=0.749	GT:AD:DP:GQ:PL	0/1:68,71:139:99:1764,0,1607	7	6	8	0
chr11	17463424	17463424	G	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	.	7	597	684	234	0	1152	0.491049	.	.	167555	Diabetes_mellitus,_permanent_neonatal_3|Permanent_neonatal_diabetes_mellitus|not_specified|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Type_2_diabetes_mellitus	MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:CN169374|MedGen:C3661900|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|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4870	0.467452	0.4604	0.7151	0.4818	0.4464	0.4098	0.4555	0.4456	0.3192	0.372013	57514	154602	rs2301703	0.3874	0.3872	0.3905	0.3843	0.7153	0.3865	0.3862	0.7077	0.7046	0.7153	0.4086	0.4696	0.3885	0.2994	0.4663	0.3843	0.4145	0.2911	0.4703	0.4705	0.4769	0.4636	0.7012	0.4675	0.4663	0.6944	0.6916	0.7012	0.3910	0.4287	0.4772	0.4001	0.2910	0.5340	0.3849	0.4706	0.2955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	26398.26	34	chr11	17463424	.	G	A	26398.26	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.13;DP=1950;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1378;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=17.74;ReadPosRankSum=0.562;SOR=0.708	GT:AD:DP:GQ:PL	0/1:88,101:189:99:2641,0,2225	12	2	7	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P	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	YES	1	302	754	465	0	1684	0.736014	.	.	167535	Hyperinsulinemia|Diabetes_mellitus,_transient_neonatal,_2|Permanent_neonatal_diabetes_mellitus|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|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:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4768	0.439297	0.4740	0.4001	0.5634	0.3640	0.3196	0.5018	0.4502	0.4658	0.471094	72832	154602	rs1048099	0.4869	0.4869	0.4871	0.4867	0.6040	0.4859	0.4855	0.5873	0.5805	0.4017	0.5620	0.5426	0.3763	0.3261	0.6040	0.4976	0.4869	0.4688	0.4594	0.4596	0.4669	0.4516	0.5197	0.4566	0.4554	0.5101	0.5062	0.4018	0.5452	0.5197	0.5528	0.3808	0.3171	0.6497	0.5006	0.5081	0.4643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.7143	102418.54	245	chr11	17474969	.	A	G	102418.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=-1.654e+00;DP=4835;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.209;SOR=0.733	GT:AD:DP:GQ:PL	1/1:0,260:260:99:7846,780,0	2	11	8	0
chr11	66560624	66560624	C	T	exonic	ACTN3	.	stopgain	ACTN3:NM_001104:exon15:c.C1729T:p.R577X	.	YES	431	348	516	227	0	970	0.582233	.	.	33351	Actn3_deficiency|Sprinting_performance|ACTININ,_ALPHA-3_POLYMORPHISM|INCREASED_COLD_TOLERANCE	MedGen:C3888204,OMIM:617749|MedGen:C2319308|.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|Affects	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011494	1777	154602	rs1815739	0.4457	0.4457	0.4429	0.4486	0.6506	0.4448	0.4445	0.6443	0.6418	0.1565	0.6506	0.4488	0.4864	0.3242	0.4631	0.4408	0.4423	0.5727	0.3751	0.3752	0.3731	0.3772	0.5830	0.3726	0.3715	0.5650	0.5577	0.1705	0.5662	0.5458	0.4550	0.4656	0.3104	0.4184	0.4422	0.4119	0.5830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.58543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	8.325406	0.97431	37	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.339000	0.33489	-0.261000	0.10426	0.599000	0.40250	0.997000	0.40164	0.094000	0.22579	0.852000	0.40310	.	.	.	59	0.97452	.;.	CTD-3074O7.5|BBS1|ACTN3|CTSF|ACTN3|DPP3|CTSF|ACTN3|CTSF|ACTN3|ACTN3|CTSF|C11orf80|LRFN4|ZDHHC24|CTSF|ZDHHC24|CTD-3074O7.2|PC|CTD-3074O7.2|CTSF|PC|BBS1|ZDHHC24|ZDHHC24|ZDHHC24|CTSF|ZDHHC24|CTSF|CTSF|CTD-3074O7.5|ACTN3|BBS1|ACTN3|CTSF|LRFN4|CLCF1|CCS|ACTN3|CTSF|ACTN3|CTSF|CCS|ACTN3|CTSF|RP11-867G23.8|CTD-3074O7.5|DPP3|BBS1|ACTN3|CTSF|ACTN3|CTSF|LRFN4|ACTN3|ACTN3|CTSF|CTD-3074O7.5|ACTN3|CTSF|CCS|ACTN3|RP11-867G23.8|BBS1|ACTN3|CTSF|CTD-3074O7.5|ZDHHC24|ACTN3|CTSF|C11orf80|DPP3|CTSF|CTSF|RP11-867G23.8|CTSF|BBS1|ACTN3|CTSF|LRFN4|RIN1|BBS1|ACTN3|CTSF|ACTN3|CCS|DPP3|ACTN3|CCS|CTD-3074O7.5|ACTN3|CTSF|RP11-867G23.8|CTD-3074O7.5|ACTN3|CTD-3074O7.2|RP11-755F10.1|RP11-867G23.8|PELI3|CTD-3074O7.5|DPP3|ZDHHC24|ACTN3|CTSF|LRFN4|ACTN3|RIN1|PELI3|CTD-3074O7.5|DPP3|BBS1|ACTN3|CTSF|CCS|RCE1|LRFN4	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood	SLC29A2|MRPL11|DPP3|MRPL11|MRPL11|BBS1|SLC29A2|SLC29A2|MRPL11|MRPL11|DPP3|MRPL11|DPP3|MRPL11|RP11-867G23.8|MRPL11|SLC29A2|SLC29A2|MRPL11|DPP3|SLC29A2|MRPL11|SLC29A2|MRPL11|CTD-3074O7.5|SLC29A2|MRPL11|MRPL11|MRPL11|RP11-867G23.8|SLC29A2|MRPL11|DPP3|RP11-867G23.8|SLC29A2|MRPL11|MRPL11|DPP3|DPP3|MRPL11|DPP3|ACTN3|SPTBN2|MRPL11|MRPL11	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Lung|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Testis|Whole_Blood|Whole_Blood	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0.3333	20480.46	40	chr11	66560624	.	C	T	20480.46	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.928;DP=1792;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2857;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=0.037;SOR=0.696	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1349,0,1185	8	1	12	0
chr11	66705772	66705772	G	A	exonic	SPTBN2	.	synonymous SNV	SPTBN2:NM_006946:exon14:c.C1719T:p.H573H,	Spinocerebellar ataxia 5, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 14, Autosomal recessive	.	1	1506	15	0	0	15	0.0049554	.	.	191403	not_provided|Autosomal_dominant_cerebellar_ataxia|not_specified	MedGen:C3661900|MONDO:MONDO:0020380,MedGen:C4087347,OMIM:PS164400,Orphanet:99|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	.	0.0004	0.0002	0.0002	0.0001	0	0.0006	0.0039	0	0.0003558	55	154602	rs148207416	0.0004	0.0004	0.0004	0.0004	0.0229	0.0004	0.0004	0.0197	0.0185	0.0005	0.0003	0.0008	0	7.673e-05	0.0229	0.0003	0.0007	0.0004	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0004	0.0004	0.0004	0	0	0.0009	0	9.407e-05	0.0068	0.0005	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	0.02381	952.98	35	chr11	66705772	.	G	A	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.120e-01;DP=812;ExcessHet=0.0000;FS=1.966;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.249;SOR=0.430	GT:AD:DP:GQ:PL	0/1:33,40:73:99:967,0,826	20	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	YES	9	1058	383	72	0	527	0.199395	.	.	18818	not_provided|Oculocutaneous_albinism_type_1|not_specified|Malignant_tumor_of_breast|Albinism|Slow_decrease_in_visual_acuity|Elevated_circulating_hepatic_transaminase_concentration|Foveal_hypoplasia|Choroidal_neovascularization|Abnormality_of_metabolism/homeostasis|Albinism_or_congenital_nystagmus|Autosomal_recessive_ocular_albinism|Melanoma,_cutaneous_malignant,_susceptibility_to,_8|Skin/hair/eye_pigmentation_3,_blue/green_eyes|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1B|Tyrosinase-negative_oculocutaneous_albinism|Temperature-sensitive_oculocutaneous_albinism_type_1	MedGen:C3661900|MONDO:MONDO:0018135,MedGen:C0268494,Orphanet:352731|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142|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: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:C1848701|Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520|Human_Phenotype_Ontology:HP:0011506,MONDO:MONDO:0810000,MedGen:C0600518|Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768|.|MONDO:MONDO:0040653,MedGen:C0268503|MONDO:MONDO:0013759,MedGen:C3152204,OMIM:614456,Orphanet:293822|MedGen:C3149136|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0018137,MedGen:C1847132,Orphanet:352737	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	.	.	0.999	D	0.994	D	0.000	D	0.000	P	2.025	M	-4.81	D	-1.761	T	0.001	T	0.836	5.014	29.5	4.68	2.166	7.499	17.625	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	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	0	0	1	0	0.2143	7022.96	56	chr11	89284793	.	G	A	7022.96	.	AC=9;AF=0.214;AN=42;BaseQRankSum=1.32;DP=842;ExcessHet=0.0874;FS=2.143;InbreedingCoeff=0.2929;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=19.45;ReadPosRankSum=0.355;SOR=0.553	GT:AD:DP:GQ:PL	1/1:1,48:49:99:1629,112,0	14	2	5	0
chr11	103109776	103109776	T	C	intronic	DYNC2H1	.	.	.	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	3	1414	96	9	0	114	0.0387492	0	0	312091	not_specified|not_provided|Jeune_thoracic_dystrophy|Asphyxiating_thoracic_dystrophy_3|Short_rib-polydactyly_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271|MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0132	0.00998403	0.0112	0.0141	0.0096	0.0002	0.0045	0.0148	0.0198	0.0035	0.0102327	1582	154602	rs112718117	0.0096	0.0096	0.0095	0.0098	0.0585	0.0095	0.0094	0.0532	0.0511	0.0137	0.0107	0.0523	2.522e-05	0.0045	0.0585	0.0089	0.0157	0.0038	0.0119	0.0119	0.0123	0.0115	0.0137	0.0114	0.0112	0.0122	0.0118	0.0131	0	0.0137	0.0557	0.0002	0.0028	0.0884	0.0111	0.0180	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2024.11	34	chr11	103109776	.	T	C	2024.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.22;DP=805;ExcessHet=0.1072;FS=1.720;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.45;ReadPosRankSum=1.76;SOR=0.495	GT:AD:DP:GQ:PL	0/1:27,35:62:99:1084,0,786	19	0	2	0
chr12	2682634	2682634	T	C	exonic	CACNA1C	.	synonymous SNV	CACNA1C:NM_001129837:exon42:c.T5553C:p.H1851H	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	140344	not_provided|Long_QT_syndrome|Cardiovascular_phenotype|not_specified	MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	9.754e-05	0	9.457e-05	0	0	0.0002	0	0	7.76e-05	12	154602	rs371831239	0.0001	0.0001	0.0001	0.0001	0.0021	0.0001	0.0001	0.0012	0.0009	0	0.0002	0	0	0	0.0021	0.0001	0.0001	0.0001	7.894e-05	7.881e-05	0.0001	4.041e-05	0.0002	4.502e-05	3.516e-05	5.29e-05	2.836e-05	2.417e-05	0	0.0002	0	0	0	0.0063	8.824e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	0.02381	1498.98	33	chr12	2682634	.	T	C	1498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.315e+00;DP=826;ExcessHet=0.0000;FS=1.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=-2.410e-01;SOR=0.877	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1513,0,1501	20	0	1	0
chr12	5994484	5994484	G	A	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon36:c.C6187T:p.P2063S,	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	YES	0	1398	118	6	0	130	0.0444293	.	.	106313	not_provided|von_Willebrand_disease_type_3|von_Willebrand_disease_type_2|von_Willebrand_disease_type_1|Hereditary_von_Willebrand_disease|not_specified	MedGen:C3661900|MONDO:MONDO:0010191,MedGen:C1264041,OMIM:277480,Orphanet:166096|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.999	D	0.000	D	1.000	D	2.67	M	0.33	T	-0.177	T	0.344	T	0.256	3.266	16.96	4.91	2.288	7.865	17.115	0.437	.	0.0079	0.0111821	0.0127	0.0016	0.0117	0.0001	0.0008	0.0085	0.0209	0.0484	0.0115846	1791	154602	rs61750615	0.0103	0.0103	0.0088	0.0118	0.0481	0.0102	0.0101	0.0469	0.0464	0.0012	0.0111	0.0243	2.519e-05	0.0013	0.0260	0.0079	0.0116	0.0481	0.0075	0.0075	0.0072	0.0078	0.0426	0.0071	0.0070	0.0378	0.0360	0.0016	0	0.0125	0.0280	0.0004	0.0008	0.0068	0.0080	0.0085	0.0426	0.027	0.46513	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000492	0.43931	D	0.000000	1	0.81001	D	2.71	0.79292	M	0.33	0.58323	T	-3.48	0.67941	D	0.302	0.34120	-0.1768	0.78261	T	0.344	0.70923	T	10	0.008045882	0.00183	T	.	.	.	0.437	0.74164	.	.	.	.	0.8483919136155127	0.84800	0.918722139017	0.71365	0.51024466753	0.40257	T	0.450725	0.79172	T	-0.367975	0.03698	T	-0.26631	0.48192	T	0.00975496406758017	0.00128	T	0.928407	0.73561	D	0.27379978	0.50446	0.30757925	0.56779	0.27379978	0.50446	0.30757925	0.56778	-7.068	0.54529	T	0.4048567127463353	0.49612	0.592	0.68532	P	.	.	4.567218	0.72027	25.8	0.99799347536863425	0.88461	0.96863	0.71349	D	AEFGBCI	0.921207	0.89433	D	0.786809231702758	0.85272	8.527232	0.707968961298416	0.82984	7.904269	0.999999977753158	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.91	4.91	0.63897	8.267000	0.89805	11.843000	0.97861	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.752000	0.35857	0.0:0.0:1.0:0.0	17.115	0.86562	937	0.14592	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2604.11	40	chr12	5994484	.	G	A	2604.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.14;DP=962;ExcessHet=0.1072;FS=7.637;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.75;ReadPosRankSum=-2.040e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/1:86,62:148:99:1478,0,2308	19	0	2	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	.	0	177	7	42	0	91	0.204494	.	.	778118	not_provided|Rhizomelic_chondrodysplasia_punctata_type_5|Peroxisome_biogenesis_disorder_2A_(Zellweger)|Peroxisome_biogenesis_disorder_2B	MedGen:C3661900|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.268e-05	0.0004	0	0	0	1.945e-05	0	0	3.84e-05	1	26028	rs757612863	0.2520	0.2523	0.2418	0.2624	0.7201	0.2513	0.2511	0.7131	0.7102	0.2717	0.3801	0.4508	0.7201	0.5171	0.2871	0.1987	0.3556	0.3579	0.5401	0.6749	0.5600	0.5186	0.6619	0.5362	0.5345	0.6379	0.6282	0.4367	0.4674	0.5855	0.6481	0.6619	0.4898	0.5586	0.6009	0.5226	0.2956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9718.96	34	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	9718.96	.	AC=24;AF=0.571;AN=42;BaseQRankSum=1.05;DP=1226;ExcessHet=0.0000;FS=8.661;InbreedingCoeff=0.8056;MLEAC=24;MLEAF=0.571;MQ=59.48;MQRankSum=-7.280e-01;QD=26.25;ReadPosRankSum=-9.330e-01;SOR=0.198	GT:AD:DP:GQ:PL	1/1:0,15:15:66:669,66,0	8	11	2	0
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	.	15	41	80	27	63	197	0.62037	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	10774.66	67	chr12	21174718	.	T	TA,TAA	10774.66	.	AC=17,5;AF=0.405,0.119;AN=42;BaseQRankSum=0.119;DP=1378;ExcessHet=1.0911;FS=0.590;InbreedingCoeff=0.0503;MLEAC=17,5;MLEAF=0.405,0.119;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=0.054;SOR=0.635	GT:AD:DP:GQ:PL	1/2:1,41,9:51:65:1146,188,65,859,0,858	5	2	9	0
chr12	21910318	21910319	AA	-	intronic	ABCC9	.	.	.	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	33	79	73	18	23	132	0.40824	.	.	330174	Dilated_Cardiomyopathy,_Dominant|not_specified|Hypertrichotic_osteochondrodysplasia_Cantu_type|Familial_atrial_fibrillation|not_provided	MedGen:CN239310|MedGen:CN169374|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0344	0.0213	0.0444	0.0182	0.0207	0.0378	0.0459	0.0332	0.0003458	9	26028	rs778815116	0.0264	0.0488	0.0268	0.0261	0.0448	0.0262	0.0261	0.0428	0.0420	0.0156	0.0448	0.0171	0.0118	0.0348	0.0075	0.0268	0.0248	0.0261	0.0006	0.0012	0.0006	0.0007	0.0010	0.0005	0.0005	0.0004	0.0003	0.0006	0	0.0006	0	0.0010	0.0026	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2716.27	42	chr12	21910317	.	CAA	CA,C	2716.27	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=0.301;DP=958;ExcessHet=21.3848;FS=0.000;InbreedingCoeff=-0.5954;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=4.38;ReadPosRankSum=0.401;SOR=0.677	GT:AD:DP:GQ:PL	0/1:20,17,0:37:99:321,0,410,381,461,842	3	0	16	0
chr12	49186409	49186409	A	G	exonic	TUBA1A	.	synonymous SNV	TUBA1A:NM_001270399:exon3:c.T276C:p.L92L	Lissencephaly 3, Autosomal dominant	YES	0	1483	39	0	0	39	0.0129784	.	.	169001	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.000	D	1.000	N	.	.	0.07	T	-0.785	T	0.200	T	.	0.718	7.820	3.26	0.697	0.737	7.144	0.081	0.0141891806235	.	.	0.0008	0.0006	0.0022	0.0016	0.0008	0.0006	0	0.0003	0.0001537	4	26028	rs1065671	2.344e-05	0.0032	2.607e-05	2.078e-05	0.0004	1.687e-05	1.489e-05	6.272e-05	4.025e-05	0	0.0001	0	7.87e-05	0.0002	0.0004	9.027e-06	5.015e-05	2.335e-05	0.0005	0.0063	0.0004	0.0007	0.0008	0.0004	0.0004	0.0003	0.0002	0.0004	0	0.0005	0.0006	0.0008	0.0022	0	0.0004	0.0019	0.0002	0.0	0.91255	D	0.568	0.08870	T	.	.	.	.	.	.	0.000005	0.62929	D	0.000000	1	0.81001	D	.	.	.	0.07	0.61677	T	0.63	0.02404	N	0.271	0.30687	-0.7851	0.56013	T	0.200	0.55541	T	7	0.031925946	0.01334	T	0.014189	0.34139	T	0.081	0.23632	.	.	0.432163118926	0.42834	.	.	.	.	.	.	.	.	.	.	0.0919219	0.63406	D	-0.105737	0.62949	T	0.129836082458496	0.15366	T	0.126887	0.00991	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17275	B	.	.	1.002917	0.13816	10.37	0.94834673285618964	0.25619	0.37202	0.25708	N	AEFDBHCI	0.027320	0.02211	N	-0.0496462723696347	0.39617	2.339276	-0.00778810353366145	0.39363	2.332682	0.999894303823597	0.45129	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.638787	0.57140	0	.	.	5.22	3.26	0.36471	0.765000	0.26211	1.040000	0.23550	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.152:0.264:0.584:0.0	7.144	0.24751	447	0.79583	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.07143	2142.68	35	chr12	49186409	.	A	G	2142.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.600e-01;DP=1351;ExcessHet=0.3300;FS=11.799;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=56.63;MQRankSum=-6.375e+00;QD=3.36;ReadPosRankSum=-7.600e-01;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,38:234:99:0|1:49186409_A_G:980,0,7959:49186409	18	0	3	0
chr12	49186412	49186412	T	C	exonic	TUBA1A	.	synonymous SNV	TUBA1A:NM_001270399:exon3:c.A273G:p.Q91Q	Lissencephaly 3, Autosomal dominant	YES	0	1486	36	0	0	36	0.0119681	.	.	207975	TUBA1A-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	.	.	0.13	T	-0.695	T	0.220	T	.	1.063	9.340	3.4	0.707	3.146	8.930	0.244	0.0259933357793	.	.	0.0007	9.617e-05	0.0021	0.0016	0.0006	0.0005	0	0.0003	3.84e-05	1	26028	rs765483435	2.344e-05	0.0033	2.333e-05	2.356e-05	0.0004	1.688e-05	1.489e-05	6.28e-05	2.923e-05	0	0.0001	0	0.0001	0.0002	0.0004	9.03e-06	3.342e-05	3.503e-05	0.0006	0.0057	0.0004	0.0007	0.0008	0.0005	0.0004	0.0004	0.0003	0.0002	0	0.0007	0.0006	0.0008	0.0027	0	0.0004	0.0019	0.0002	0.0	0.91255	D	0.796	0.04117	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.13	0.60973	T	-0.79	0.21860	N	0.199	0.21969	-0.6948	0.60684	T	0.220	0.58358	T	6	0.030884892	0.01218	T	0.025993	0.48929	D	0.244	0.55061	.	.	0.625785243138	0.62273	.	.	.	.	.	.	.	.	.	.	0.0985044	0.64130	D	-0.0962817	0.63685	T	0.169001140042164	0.18512	T	0.268873	0.04498	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00658	B	.	.	1.645712	0.21003	15.01	0.73114639070462317	0.10212	0.18497	0.20284	N	AEFDBHCI	0.052907	0.09487	N	0.0158712336395146	0.42578	2.568006	0.0623802346614472	0.42673	2.585308	0.999997430665141	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.638787	0.57140	0	.	.	5.22	3.4	0.38031	3.210000	0.50832	-0.039000	0.12693	-1.764000	0.00673	1.000000	0.71638	0.057000	0.21958	0.936000	0.47498	0.0:0.7635:0.0:0.2365	8.930	0.34822	447	0.79583	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	2145.68	35	chr12	49186412	.	T	C	2145.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.490;DP=1349;ExcessHet=0.3300;FS=11.755;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=56.62;MQRankSum=-6.393e+00;QD=3.37;ReadPosRankSum=-9.440e-01;SOR=1.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,38:232:99:0|1:49186409_A_G:986,0,7879:49186409	18	0	3	0
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	YES	2	270	714	536	0	1786	0.767842	.	.	134680	Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|not_specified|not_provided|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|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:CN169374|MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4175	0.428514	0.4722	0.3467	0.4430	0.3969	0.4887	0.4772	0.5226	0.5739	0.0001537	4	26028	rs1169289	0.4566	0.4566	0.4516	0.4616	0.6297	0.4557	0.4553	0.6126	0.6057	0.3411	0.4475	0.5840	0.4311	0.4803	0.6297	0.4472	0.4625	0.5707	0.4301	0.4302	0.4244	0.4360	0.5691	0.4273	0.4262	0.5513	0.5441	0.3324	0.4382	0.4585	0.5786	0.3892	0.4991	0.6293	0.4561	0.4691	0.5691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.619	42933.13	95	chr12	120978819	.	C	G	42933.13	.	AC=26;AF=0.619;AN=42;BaseQRankSum=1.45;DP=2181;ExcessHet=0.3152;FS=1.264;InbreedingCoeff=0.1923;MLEAC=26;MLEAF=0.619;MQ=60.00;MQRankSum=0.00;QD=21.72;ReadPosRankSum=0.778;SOR=0.582	GT:AD:DP:GQ:PL	0/1:66,52:118:99:1301,0,1609	4	9	8	0
chr12	120978847	120978847	A	C	exonic	HNF1A	.	nonsynonymous SNV	HNF1A:NM_000545:exon1:c.A79C:p.I27L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	YES	0	433	725	364	0	1453	0.626563	.	.	29976	Maturity_onset_diabetes_mellitus_in_young|Insulin_resistance,_susceptibility_to|not_specified|SERUM_HDL_CHOLESTEROL_LEVEL,_MODIFIER_OF|not_provided|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|Type_2_diabetes_mellitus	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C1852091|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.025	B	0.047	B	0.001	D	0.000	P	1.445	L	-4.99	D	-1.199	T	0.000	T	0.491	2.485	14.27	4.45	1.637	3.135	12.900	0.471	.	0.2625	0.298522	0.3533	0.1240	0.3657	0.4181	0.4013	0.3526	0.4043	0.4245	0.337234	52137	154602	rs1169288	0.3335	0.3336	0.3293	0.3377	0.4891	0.3327	0.3324	0.4740	0.4679	0.1157	0.3665	0.4685	0.4637	0.3871	0.4891	0.3203	0.3413	0.4211	0.2886	0.2888	0.2795	0.2980	0.4159	0.2863	0.2854	0.4007	0.3946	0.1246	0.3998	0.3441	0.4579	0.4113	0.4038	0.5136	0.3279	0.3172	0.4159	0.082	0.33254	T	0.088	0.41074	T	0.02	0.18235	B	0.013	0.16460	B	0.000599	0.43095	D	0.102545	0.00427281	0.58761	P	.	.	.	-4.99	0.98507	D	-0.92	0.26422	N	0.244	0.59478	-1.1988	0.00159	T	0.000	0.00011	T	9	0.0011825562	0.00013	T	.	.	.	0.471	0.76487	.	.	.	.	0.639855555068673	0.63920	0.661091555139	0.58901	0.671702623367	0.63080	T	0.616759	0.87931	D	-0.242214	0.15067	T	0.0231193	0.71833	D	0.0200591795459442	0.00707	T	0.545645	0.21248	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.29724	B	.;.;.;.;.;.	.;.;.;.;.;.	2.848995	0.37605	20.5	0.97610260144253136	0.34904	0.91018	0.52700	D	AEFDBHCI	0.874006	0.79666	D	-0.165784519999115	0.34565	1.974477	-0.019193184638099	0.38849	2.294743	0.999999999782079	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	3.208000	0.50816	6.975000	0.57104	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	12.900	0.57511	371	0.84287	Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal	SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|UNC119B|SPPL3|SPPL3|SPPL3|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43|ACADS|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood	.	.	rs1169288	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.5238	33561.51	89	chr12	120978847	.	A	C	33561.51	.	AC=22;AF=0.524;AN=42;BaseQRankSum=1.54;DP=1997;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=19.34;ReadPosRankSum=-1.670e-01;SOR=0.717	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1313,0,1743	5	6	10	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	.	1	363	726	432	0	1590	0.686528	0	0.002	134677	not_provided|Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	P	.	.	.	.	-1.027	T	0.000	T	.	-0.974	0.301	-8.98	-3.672	-0.240	13.207	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	52313.0	129	chr12	120997672	.	G	A	52313.0	.	AC=23;AF=0.548;AN=42;BaseQRankSum=1.17;DP=2905;ExcessHet=2.1081;FS=0.567;InbreedingCoeff=-0.0572;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=19.48;ReadPosRankSum=0.674;SOR=0.641	GT:AD:DP:GQ:PL	0/1:84,80:164:99:2137,0,1932	4	6	11	0
chr13	23320614	23320615	TG	-	intronic	SGCG	.	.	.	Muscular dystrophy, limb-girdle, type 2C, Autosomal recessive	.	188	423	406	438	67	1349	0.602444	.	.	408805	not_specified|not_provided	MedGen:CN169374|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	.	0.1291	0.0400	0.1078	0.0906	0.0515	0.1427	0.1633	0.1427	0.0002305	6	26028	rs1064794531	0.0330	0.0494	0.0331	0.0329	0.0489	0.0327	0.0326	0.0468	0.0460	0.0087	0.0363	0.0553	0.0489	0.0201	0.0322	0.0331	0.0334	0.0349	0.0006	0.0009	0.0006	0.0007	0.0010	0.0005	0.0005	0.0006	0.0005	0.0001	0	0.0010	0	0.0006	0.0014	0	0.0008	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	14729.47	28	chr13	23320613	.	TTG	GTG,*,T	14729.47	.	AC=16,3,7;AF=0.381,0.071,0.167;AN=42;BaseQRankSum=0.146;DP=715;ExcessHet=4.5793;FS=0.638;InbreedingCoeff=-0.2554;MLEAC=16,2,8;MLEAF=0.381,0.048,0.190;MQ=60.00;MQRankSum=0.00;QD=25.66;ReadPosRankSum=-7.800e-02;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,15,0,0:28:99:0|1:23320605_T_G:584,0,496,624,541,1165,624,541,1165,1165:23320605	2	3	7	0
chr14	21325300	21325300	C	T	exonic	RPGRIP1	.	synonymous SNV	RPGRIP1:NM_001377948:exon6:c.C1210T:p.L404L	Cone-rod dystrophy 13;Leber congenital amaurosis 6	.	1	1492	29	0	0	29	0.00962496	.	.	269275	Cone-rod_dystrophy_13|Leber_congenital_amaurosis_6|RPGRIP1-related_disorder|not_specified|not_provided	MONDO:MONDO:0011987,MedGen:C2750720,OMIM:608194,Orphanet:1872|MONDO:MONDO:0013446,MedGen:C1854260,OMIM:613826,Orphanet:65|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00179712	0.0042	0.0005	0.0012	0	0.0016	0.0056	0.0041	0.0056	0.0030724	475	154602	rs145896974	0.0029	0.0029	0.0027	0.0031	0.0097	0.0028	0.0028	0.0077	0.0069	0.0004	0.0011	0.0180	0	0.0015	0.0097	0.0026	0.0036	0.0054	0.0025	0.0025	0.0026	0.0024	0.0036	0.0023	0.0022	0.0033	0.0031	0.0005	0	0.0012	0.0156	0	0.0012	0.0068	0.0036	0.0024	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	4423.98	35	chr14	21325300	.	C	T	4423.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=1076;ExcessHet=0.0000;FS=0.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=1.95;SOR=0.740	GT:AD:DP:GQ:PL	0/1:184,173:357:99:4438,0,4814	20	0	1	0
chr14	45159081	45159082	TA	-	intronic	FANCM	.	.	.	.	.	112	1082	255	73	0	401	0.156335	.	.	254944	Premature_ovarian_failure_15|Spermatogenic_failure_28|not_specified|Fanconi_anemia|not_provided	MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MedGen:CN169374|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1649	0.118211	0.2866	0.1333	0.3837	0.3597	0.2824	0.2839	0.3018	0.2884	0.0001153	3	26028	rs112326758	0.1122	0.1201	0.1094	0.1149	0.1935	0.1117	0.1115	0.1908	0.1897	0.0401	0.1465	0.1445	0.1311	0.1270	0.1417	0.1046	0.1161	0.1935	0.0911	0.0910	0.0895	0.0928	0.1830	0.0898	0.0893	0.1730	0.1690	0.0383	0.1634	0.1126	0.1321	0.1180	0.1093	0.1103	0.1032	0.1164	0.1830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5150.84	36	chr14	45159080	.	TTA	T	5150.84	.	AC=8;AF=0.190;AN=42;BaseQRankSum=0.323;DP=609;ExcessHet=0.5418;FS=0.476;InbreedingCoeff=0.0735;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=20.77;ReadPosRankSum=0.470;SOR=0.733	GT:AD:DP:GQ:PL	0/1:26,24:50:99:774,0,834	14	1	6	0
chr14	67772034	67772034	C	T	intronic	ZFYVE26	.	.	.	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	.	2	1518	2	0	0	2	0.000658328	.	.	321054	Spastic_paraplegia|not_provided|Hereditary_spastic_paraplegia_15|not_specified	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.00159744	0.0039	0.0034	0.0010	0	0.0106	0.0053	0.0027	0.0002	0.0030207	467	154602	rs140117984	0.0024	0.0024	0.0023	0.0024	0.0031	0.0023	0.0023	0.0026	0.0024	0.0031	0.0008	0.0012	0	0.0093	0.0014	0.0024	0.0026	0.0003	0.0039	0.0039	0.0034	0.0043	0.0051	0.0036	0.0035	0.0047	0.0045	0.0030	0	0.0010	0.0026	0	0.0079	0.0034	0.0051	0.0019	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	770.98	39	chr14	67772034	.	C	T	770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.967;DP=779;ExcessHet=0.0000;FS=2.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=0.559;SOR=1.219	GT:AD:DP:GQ:PL	0/1:25,27:52:99:785,0,748	20	0	1	0
chr14	76500745	76500745	G	A	UTR3	ESRRB	NM_004452:c.*24G>A;NM_001379180:c.*2287G>A	.	.	Deafness, autosomal recessive 35, Autosomal recessive	.	0	1501	19	2	0	23	0.00760331	.	.	321453	Autosomal_recessive_nonsyndromic_hearing_loss_35|not_provided	MONDO:MONDO:0012060,MedGen:C1837857,OMIM:608565,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7e-05	0.00279553	0.0025	0.0001	0.0002	0	0	0.0002	0.0022	0.0171	0.0021216	328	154602	rs372618689	0.0012	0.0012	0.0006	0.0017	0.0179	0.0011	0.0011	0.0171	0.0168	5.976e-05	0.0001	0.0004	5.038e-05	0	0.0035	5.938e-05	0.0009	0.0179	0.0007	0.0007	0.0003	0.0011	0.0182	0.0006	0.0006	0.0152	0.0140	2.405e-05	0	0.0002	0.0006	0.0002	0	0.0034	0.0002	0	0.0182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2167.98	33	chr14	76500745	.	G	A	2167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.868;DP=853;ExcessHet=0.0000;FS=2.962;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=-7.280e-01;SOR=0.949	GT:AD:DP:GQ:PL	0/1:68,81:149:99:2182,0,1658	20	0	1	0
chr14	92071009	92071009	-	G	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.68_69insC:p.P25Tfs*24	Machado-Joseph disease, Autosomal dominant	.	98	926	380	118	0	616	0.249595	.	.	390136	not_specified|not_provided|ATXN3-related_disorder	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	15824.71	66	chr14	92071009	.	C	CG	15824.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.151e+00;DP=1672;ExcessHet=0.7800;FS=1.838;InbreedingCoeff=-0.0717;MLEAC=14;MLEAF=0.412;MQ=59.16;MQRankSum=0.00;QD=20.52;ReadPosRankSum=0.215;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,26:70:99:.:.:612,0,1195	7	2	8	4
chr14	95115562	95115562	G	A	intronic	DICER1	.	.	.	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	.	23	1096	320	83	0	486	0.181479	.	.	505595	DICER1-related_tumor_predisposition|not_specified|not_provided	MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165735	.	.	.	.	.	.	.	.	0.0356852	5517	154602	rs2275182	0.1908	0.1888	0.1943	0.1875	0.3161	0.1901	0.1899	0.3105	0.3082	0.3161	0.1109	0.2679	0.0414	0.1976	0.2523	0.2055	0.1914	0.0828	0.2199	0.2200	0.2255	0.2140	0.3112	0.2179	0.2171	0.3067	0.3049	0.3112	0.2314	0.1592	0.2689	0.0394	0.1958	0.2891	0.2018	0.2343	0.0806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2716.06	13	chr14	95115562	.	G	A	2716.06	.	AC=9;AF=0.214;AN=42;BaseQRankSum=0.489;DP=319;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0090;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=21.90;ReadPosRankSum=-6.350e-01;SOR=0.960	GT:AD:DP:GQ:PL	1/1:0,23:23:69:868,69,0	13	1	7	0
chr15	42359702	42359702	G	C	UTR5	CAPN3	NM_024344:c.-104G>C;NM_173087:c.-104G>C;NM_000070:c.-104G>C	.	.	Muscular dystrophy, limb-girdle, type 2A, Autosomal recessive	.	223	1280	18	1	0	20	0.00775194	.	.	331826	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A|Limb-girdle_muscular_dystrophy,_recessive	MedGen:C3661900|MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600,Orphanet:267|MedGen:CN239352	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	.	.	.	.	.	.	.	.	0.0030013	464	154602	rs149698681	0.0176	0.0175	0.0181	0.0171	0.0203	0.0175	0.0174	0.0200	0.0199	0.0029	0.0091	0.0165	2.532e-05	0.0133	0.0105	0.0203	0.0169	0.0048	0.0123	0.0123	0.0129	0.0117	0.0190	0.0118	0.0117	0.0182	0.0178	0.0035	0	0.0126	0.0202	0	0.0116	0.0136	0.0190	0.0128	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	848.98	33	chr15	42359702	.	G	C	848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.805e+00;DP=765;ExcessHet=0.0000;FS=1.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=1.32;SOR=0.527	GT:AD:DP:GQ:PL	0/1:34,33:67:99:863,0,975	20	0	1	0
chr15	53523331	53523332	AG	-	intronic	WDR72	.	.	.	Amelogenesis imperfecta, type IIA3, Autosomal recessive	.	14	784	401	71	252	795	0.257224	.	.	340892	not_provided|Amelogenesis_Imperfecta,_Recessive|WDR72-related_disorder	MedGen:C3661900|MedGen:CN239209|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2306	0.2143	0.2694	0.3617	0.1755	0.2088	0.2154	0.2560	0.0028913	447	154602	rs112552047	0.0994	0.1689	0.0975	0.1014	0.2643	0.0989	0.0987	0.2589	0.2567	0.1268	0.1416	0.1098	0.2643	0.1076	0.0653	0.0894	0.1105	0.1377	0.0150	0.0172	0.0147	0.0154	0.0702	0.0145	0.0143	0.0642	0.0618	0.0283	0.0077	0.0060	0.0015	0.0702	0.0031	0.0034	0.0057	0.0146	0.0399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	13790.18	34	chr15	53523330	.	AAG	AAGAG,AAGAGAG,A	13790.18	.	AC=3,12,1;AF=0.071,0.286,0.024;AN=42;BaseQRankSum=0.00;DP=1235;ExcessHet=0.3152;FS=0.576;InbreedingCoeff=0.1923;MLEAC=3,12,1;MLEAF=0.071,0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=21.82;ReadPosRankSum=0.452;SOR=0.796	GT:AD:DP:GQ:PL	0/2:24,8,27,0:59:99:1064,647,1312,0,578,915,1032,1435,924,1859	9	0	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	79118.81	83	chr15	59256276	.	C	T	79118.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=2.30;DP=2826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=28.56;ReadPosRankSum=1.38;SOR=0.954	GT:AD:DP:GQ:PL	1/1:0,147:147:99:4225,441,0	0	21	0	0
chr15	78513681	78513681	T	C	intronic	HYKK	.	.	.	.	YES	1079	356	30	57	0	144	0.168224	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	473.7	45	chr15	78513681	.	T	C	473.7	.	AC=7;AF=0.269;AN=26;BaseQRankSum=0.967;DP=45;ExcessHet=0.0379;FS=2.769;InbreedingCoeff=0.1191;MLEAC=10;MLEAF=0.385;MQ=60.00;MQRankSum=0.00;QD=29.61;ReadPosRankSum=0.431;SOR=0.223	GT:AD:DP:GQ:PL	1/1:0,3:3:9:124,9,0	8	2	3	8
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4750.45	99	chr16	15725134	.	TA	T,TAA	4750.45	.	AC=5,9;AF=0.119,0.214;AN=42;BaseQRankSum=-1.360e-01;DP=2854;ExcessHet=14.4320;FS=1.194;InbreedingCoeff=-0.5163;MLEAC=5,9;MLEAF=0.119,0.214;MQ=60.00;MQRankSum=0.00;QD=3.13;ReadPosRankSum=0.858;SOR=0.574	GT:AD:DP:GQ:PL	0/2:100,26,30:161:98:310,98,2539,0,1521,2272	7	0	5	0
chr16	50722629	50722629	G	C	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon7:c.G2641C:p.G881R	Blau syndrome, Autosomal dominant	.	0	1447	69	3	3	78	0.025261	.	.	19731	not_specified|Inflammatory_bowel_disease_1|Yao_syndrome|Psoriatic_arthritis,_susceptibility_to|Blau_syndrome|Autoinflammatory_syndrome|not_provided|Regional_enteritis	MedGen:CN169374|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321|MONDO:MONDO:0100232,MedGen:C1835223,OMIM:607507|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MeSH:D003424,MedGen:C0678202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|association	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.986	D	0.000	D	1.000	D	1.79	L	0.57	T	-0.696	T	0.138	T	0.94	4.373	23.1	5.91	2.813	5.363	15.796	0.108	.	0.0102	0.00459265	0.0099	0.0013	0.0071	0	0.0026	0.0141	0.0154	0.0083	0.0096894	1498	154602	rs2066845	0.0131	0.0132	0.0130	0.0133	0.0380	0.0130	0.0129	0.0338	0.0323	0.0023	0.0085	0.0423	5.038e-05	0.0029	0.0380	0.0141	0.0135	0.0091	0.0103	0.0104	0.0106	0.0100	0.0147	0.0099	0.0097	0.0139	0.0136	0.0027	0.0022	0.0138	0.0432	0	0.0025	0.0238	0.0147	0.0161	0.0062	0.0	0.91255	D	0.008	0.67890	D	0.998	0.90584	D	0.986	0.76916	D	0.000329	0.45700	D	0.137455	0.999972	0.53665	D	0.985	0.24966	L	0.57	0.54347	T	-5.82	0.88289	D	0.748	0.74735	-0.6961	0.60624	T	0.138	0.45508	T	10	0.010364234	0.00231	T	.	.	.	0.343	0.66488	.	.	.	.	0.5552220685344174	0.55449	0.543973793006	0.51462	0.639326453209	0.58468	T	0.246023	0.61542	T	-0.0755688	0.40431	T	0.135594	0.79259	D	0.0287640030574061	0.01801	T	0.768023	0.39669	T	0.8308712	0.85963	0.8893869	0.94223	0.8272104	0.85711	0.89788145	0.94825	-7.639	0.58582	D	0.7701228907073245	0.85119	0.742	0.79764	P	.;.	.;.	4.687193	0.75062	26.3	0.99930967160495277	0.99387	0.93656	0.58818	D	AEFBI	0.678290	0.64270	D	0.773275856692237	0.84410	8.280031	0.780502591572662	0.88404	9.570225	0.999942795872936	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.91	5.91	0.95240	4.498000	0.60095	9.841000	0.81924	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	15.796	0.78185	679	0.60090	.;.	RP11-327F22.1|RP11-327F22.1|RP11-327F22.1|RP11-327F22.1|RP11-327F22.1	Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Lung|Thyroid	.	.	rs2066845	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	3486.11	33	chr16	50722629	.	G	C	3486.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.270e-01;DP=1044;ExcessHet=0.1072;FS=0.373;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-5.020e-01;SOR=0.733	GT:AD:DP:GQ:PL	0/1:101,72:173:99:1689,0,2721	19	0	2	0
chr16	51141745	51141747	GCT	-	exonic	SALL1	.	nonframeshift deletion	SALL1:NM_001127892:exon2:c.184_186del:p.S62del	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	4	1373	56	3	86	148	0.0220798	.	.	192348	not_provided|Townes_syndrome|not_specified|Townes-Brocks_syndrome_1	MedGen:C3661900|MONDO:MONDO:0007142,MeSH:C536974,MedGen:C0265246,OMIM:PS107480,Orphanet:857|MedGen:CN169374|MONDO:MONDO:0054581,MedGen:C4551481,OMIM:107480,Orphanet:857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0517	0.0288	0.0634	0.0551	0.0317	0.0524	0.0368	0.0607	0.0403035	6231	154602	rs769634214	0.0131	0.0455	0.0130	0.0132	0.0147	0.0130	0.0129	0.0145	0.0144	0.0032	0.0111	0.0126	0.0021	0.0102	0.0057	0.0147	0.0126	0.0047	0.0079	0.0082	0.0082	0.0077	0.0118	0.0076	0.0074	0.0111	0.0109	0.0023	0.0055	0.0087	0.0110	0.0031	0.0078	0.0068	0.0118	0.0081	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	12825.78	138	chr16	51141744	.	CGCT	C,CGCTGCT	12825.78	.	AC=2,3;AF=0.048,0.071;AN=42;BaseQRankSum=0.846;DP=1595;ExcessHet=0.0409;FS=1.139;InbreedingCoeff=0.3189;MLEAC=2,3;MLEAF=0.048,0.071;MQ=59.99;MQRankSum=0.00;QD=22.58;ReadPosRankSum=0.232;SOR=0.595	GT:AD:DP:GQ:PL	0/1:76,82,0:159:99:3111,0,2791,3376,3105,6713	17	0	1	0
chr16	70472982	70472982	G	C	splicing	FCSK	NM_145059:exon15:c.1407-1G>C	.	.	.	YES	418	1103	1	0	0	1	0.000453104	1.0000	0.954	1699639	Congenital_disorder_of_glycosylation_with_defective_fucosylation_2|not_provided|not_specified	MONDO:MONDO:0020777,MedGen:C5193028,OMIM:618324|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.964	15.88	4.6	1.330	5.302	13.804	.	.	0.0002	.	0.0003	0	0.0004	0	0	0.0005	0	0	0.000194	30	154602	rs201291016	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0	0	0.0005	0.0002	0.0003	2.368e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.826e-05	0.0055	0.0001	0	0	0	0.0032	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0139866	0.53569	T	0.0984703	0.76806	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.232752	0.87839	29.4	0.99219220604533487	0.55839	0.98040	0.79094	D	AEFDBI	.	.	.	0.936541139725994	0.93431	12.03506	0.746592066932378	0.85902	8.721152	0.999996942596924	0.74766	0.106106	0.02776	0	0.090008	0.02477	0	0.099915	0.03048	0	0.109871	0.03346	0	0.877654	0.54502	5.57	4.6	0.56512	3.440000	0.52649	11.792000	0.96402	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.675000	0.33396	0.0:0.0:0.8465:0.1535	13.804	0.62711	108	0.95573	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	715.98	33	chr16	70472982	.	G	C	715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=767;ExcessHet=0.0000;FS=0.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-5.660e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/1:29,27:56:99:730,0,670	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3044.08	1	chr16	86513394	.	C	CT	3044.08	.	AC=10;AF=0.417;AN=24;BaseQRankSum=0.00;DP=89;ExcessHet=0.0018;FS=4.581;InbreedingCoeff=0.2944;MLEAC=15;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.38;SOR=0.247	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:86513394_C_CT:90,6,0:86513394	6	4	2	9
chr16	88738430	88738430	G	C	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon7:c.C645G:p.H215Q,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	407	1109	6	0	0	6	0.00269784	.	.	433815	PIEZO1-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.011	B	0.004	B	.	.	1.000	D	0.895	L	-0.5	T	-1.001	T	0.089	T	0.12	1.678	11.57	-4.05	-0.411	1.166	2.166	0.029	0.274735076627	.	0.000599042	0.0026	0	0	0	0	0	0	0.0055	0.0003299	51	154602	rs559847737	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0050	0.0049	0	0	0	0	0	0.0012	1.947e-05	0.0003	0.0055	0.0002	0.0002	0.0001	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0.0005	0.0058	0.322	0.13479	T	0.145	0.33000	T	0.011	0.15914	B	0.004	0.10090	B	.	.	.	.	0.947055	0.26612	N	1.33	0.33268	L	-0.5	0.70480	T	-0.52	0.16187	N	0.185	0.20129	-1.0014	0.29516	T	0.089	0.34243	T	9	0.0074704587	0.00170	T	0.274735	0.90012	D	0.079	0.23065	0.208	0.12497	0.0675242888579	0.06100	0.1785156411271724	0.17770	.	.	0.50876057148	0.40049	T	0.003106	0.02504	T	-0.479354	0.00746	T	-0.459831	0.26617	T	0.0195426641500316	0.00658	T	0.674133	0.28269	T	0.028805776	0.02275	0.044203866	0.05673	0.028805776	0.02275	0.044203866	0.05672	-1.116	0.01137	T	0.14444090841553692	0.16502	0.227	0.45966	B	.	.	1.714927	0.21836	15.37	0.91531651829458138	0.20808	0.37225	0.25713	N	AEFGBCI	0.081001	0.16386	N	-0.38044629255213	0.26166	1.425997	-0.432489721075687	0.24049	1.314836	0.999320206672254	0.39149	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.54	-4.05	0.03730	0.523000	0.22632	0.148000	0.15257	0.676000	0.76740	0.998000	0.41325	0.851000	0.27392	0.799000	0.37691	0.3463:0.3239:0.227:0.1027	2.166	0.03603	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1090.98	82	chr16	88738430	.	G	C	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=1742;ExcessHet=0.0000;FS=3.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-5.250e-01;SOR=1.096	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1105,0,1183	20	0	1	0
chr16	88814436	88814436	G	C	UTR3	GALNS	NM_001323543:c.*3C>G;NM_001323544:c.*3C>G;NM_000512:c.*3C>G	.	.	Mucopolysaccharidosis IVA, Autosomal recessive	.	0	1479	39	1	3	44	0.0136712	.	.	342895	Morquio_syndrome|Mucopolysaccharidosis,_MPS-IV-A|not_provided	MONDO:MONDO:0018938,MedGen:C0026707,Orphanet:582|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000,Orphanet:309297,Orphanet:582|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0073	0.00998403	0.0147	0.0027	0.01	0.0306	0.0517	0.0176	0.015	0.0133	0.0071215	1101	154602	rs77826920	0.0121	0.0120	0.0123	0.0120	0.0150	0.0120	0.0119	0.0140	0.0136	0.0013	0.0087	0.0123	0.0150	0.0205	0.0076	0.0120	0.0132	0.0126	0.0104	0.0104	0.0098	0.0110	0.0200	0.0100	0.0098	0.0169	0.0158	0.0020	0.0187	0.0097	0.0124	0.0200	0.0235	0.0102	0.0125	0.0123	0.0114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1834.11	34	chr16	88814436	.	G	C	1834.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.964;DP=981;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-6.270e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/1:28,26:54:99:622,0,692	19	0	2	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8497.7	6	chr16	89816740	.	A	AGGCCTTGCGTCGT	8497.7	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.389;DP=389;ExcessHet=0.0321;FS=22.573;InbreedingCoeff=0.3750;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=30.65;ReadPosRankSum=0.524;SOR=0.064	GT:AD:DP:GQ:PL	0/1:11,6:17:99:219,0,444	10	5	6	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.938	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.095	12.96	5.06	2.751	6.097	18.302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2024.09	102	chr17	3648932	.	G	C	2024.09	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.410e+00;DP=2311;ExcessHet=20.9642;FS=326.408;InbreedingCoeff=-0.6490;MLEAC=17;MLEAF=0.425;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.04;SOR=11.378	GT:AD:DP:GQ:PL	0/1:62,45:115:99:170,0,831	4	0	16	1
chr17	61483613	61483613	-	GTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	345241	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003816	59	154602	rs149977669	0.0352	0.0418	0.0350	0.0354	0.0661	0.0348	0.0347	0.0628	0.0614	0.0661	0.0292	0.0748	0.0235	0.0349	0.0442	0.0336	0.0422	0.0325	0.0615	0.0639	0.0624	0.0604	0.0928	0.0604	0.0599	0.0901	0.0890	0.0928	0.0338	0.0454	0.0856	0.0393	0.0354	0.0772	0.0530	0.0633	0.0469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|5:4,0,0,0,0,11,0:15:99:0|1:61483613_A_AGT:345,357,508,357,508,508,357,508,508,508,357,508,508,508,508,0,151,151,151,151,118,357,508,508,508,508,151,508:61483613	2	1	3	0
chr17	61483613	61483613	-	GTGTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	346649	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004204	65	154602	rs149977669	0.0376	0.0398	0.0379	0.0373	0.0493	0.0372	0.0370	0.0464	0.0453	0.0493	0.0324	0.0746	0.0068	0.0466	0.0411	0.0397	0.0465	0.0165	0.0777	0.0806	0.0796	0.0757	0.0931	0.0765	0.0760	0.0911	0.0903	0.0654	0.1030	0.0654	0.1510	0.0092	0.0656	0.0846	0.0931	0.0777	0.0204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|5:4,0,0,0,0,11,0:15:99:0|1:61483613_A_AGT:345,357,508,357,508,508,357,508,508,508,357,508,508,508,508,0,151,151,151,151,118,357,508,508,508,508,151,508:61483613	2	1	3	0
chr17	61483613	61483613	-	GTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	339436	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014243	2202	154602	rs149977669	0.0596	0.0681	0.0566	0.0623	0.0909	0.0591	0.0589	0.0887	0.0879	0.0854	0.0509	0.0943	0.0511	0.0502	0.0660	0.0547	0.0693	0.0909	0.1012	0.1026	0.1036	0.0984	0.1398	0.0997	0.0992	0.1302	0.1264	0.1162	0.0689	0.0887	0.1141	0.0554	0.0666	0.0846	0.1010	0.1055	0.1398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|5:4,0,0,0,0,11,0:15:99:0|1:61483613_A_AGT:345,357,508,357,508,508,357,508,508,508,357,508,508,508,508,0,151,151,151,151,118,357,508,508,508,508,151,508:61483613	2	1	3	0
chr17	74312223	74312223	C	T	exonic	DNAI2	.	nonsynonymous SNV	DNAI2:NM_001172810:exon12:c.C1679T:p.P560L	Ciliary dyskinesia, primary, 9, with or without situs inversus	.	4	1508	10	0	0	10	0.00330469	.	.	256393	not_specified|Primary_ciliary_dyskinesia_9|Primary_ciliary_dyskinesia	MedGen:CN169374|MONDO:MONDO:0012906,MedGen:C2676235,OMIM:612444,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.005	B	0.002	B	0.006	N	1.000	N	1.905	M	-0.17	T	-1.035	T	0.187	T	0.087	-0.482	1.782	-1.55	0.412	0.003	2.332	0.064	.	0.0010	0.00319489	0.0023	0.0004	0.0004	0	0.0028	0.0011	0	0.0087	0.0013519	209	154602	rs151241589	0.0013	0.0013	0.0011	0.0015	0.0067	0.0013	0.0013	0.0063	0.0061	0.0002	0.0001	0	2.624e-05	0.0027	0.0019	0.0010	0.0010	0.0067	0.0010	0.0010	0.0009	0.0012	0.0083	0.0009	0.0009	0.0062	0.0054	0.0003	0	0.0001	0	0.0007	0.0026	0	0.0011	0.0015	0.0083	0.076	0.34269	T	0.276	0.35082	T	0.005	0.12996	B	0.002	0.06944	B	0.006285	0.01118	N	10.799300	1	0.08975	N	1.525	0.38595	L	-0.14	0.66652	T	-0.7	0.19933	N	0.217	0.27197	-1.0353	0.18762	T	0.187	0.53676	T	10	0.007289797	0.00166	T	.	.	.	0.064	0.18567	.	.	0.474643619859	0.47091	0.18816252618940907	0.18734	0.2567864681	0.28246	0.274821817875	0.06781	T	0.011744	0.11702	T	-0.547178	0.00303	T	-0.555453	0.16806	T	0.00328890195013933	0.00035	T	0.60154	0.22486	T	0.03158688	0.03026	0.030636253	0.01544	0.037525658	0.04827	0.03746203	0.03404	-4.374	0.30507	T	.	.	0.085	0.09965	B	.;.;.;.	.;.;.;.	1.105640	0.14901	11.43	0.67238295708080453	0.08295	0.06415	0.12420	N	AEFBI	0.060474	0.11493	N	-1.07614781901343	0.07085	0.3280867	-1.15536338780169	0.06672	0.3219387	1.53322798104637E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.71	-1.55	0.08105	0.535000	0.22822	0.967000	0.23031	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3091:0.2922:0.303:0.0957	2.332	0.03978	725	0.54935	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1456.98	58	chr17	74312223	.	C	T	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.603e+00;DP=1519;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-7.650e-01;SOR=0.761	GT:AD:DP:GQ:PL	0/1:52,59:111:99:1471,0,1375	20	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_specified|not_provided|Pontoneocerebellar_hypoplasia|Pontocerebellar_hypoplasia_type_4	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523|MONDO:MONDO:0009166,MedGen:C1856974,OMIM:225753,Orphanet:166063	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	520.05	5	chr17	75516562	.	T	TGGAGCC	520.05	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-2.012e+00;DP=210;ExcessHet=0.3476;FS=0.000;InbreedingCoeff=0.0018;MLEAC=3;MLEAF=0.075;MQ=60.00;MQRankSum=0.00;QD=17.33;ReadPosRankSum=-5.240e-01;SOR=0.960	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,3:7:99:.:.:103,0,159	17	0	3	1
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|Psoriasis_2|Pityriasis_rubra_pilaris	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	58196.26	104	chr17	80184264	.	G	A	58196.26	.	AC=33;AF=0.786;AN=42;BaseQRankSum=0.515;DP=2582;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=33;MLEAF=0.786;MQ=60.00;MQRankSum=0.00;QD=23.56;ReadPosRankSum=0.827;SOR=0.756	GT:AD:DP:GQ:PL	0/1:58,66:124:99:1829,0,1466	0	12	9	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_provided|Psoriasis_2|Pityriasis_rubra_pilaris|not_specified	MedGen:C3661900|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:CN169374	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	15842.43	70	chr17	80202434	.	T	A,G	15842.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.587e+00;DP=1428;ExcessHet=3.1640;FS=0.564;InbreedingCoeff=-0.1407;MLEAC=14,1;MLEAF=0.333,0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=-5.000e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:40,38,0:78:99:1090,0,1117,1210,1232,2442	8	2	10	0
chr17	80205094	80205094	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_024110:exon18:c.C2458T:p.R820W	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	YES	50	677	568	227	0	1022	0.430135	.	.	390229	Psoriasis_2|Pityriasis_rubra_pilaris|not_provided|not_specified|Autoinflammatory_syndrome	MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.912	P	0.17	B	0.045	N	0.149	P	1.04	L	3.41	T	-0.952	T	0.000	T	0.152	1.135	9.626	1.85	0.706	3.132	4.371	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	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.3333	29993.43	146	chr17	80205094	.	C	T	29993.43	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.730e-01;DP=2358;ExcessHet=2.0984;FS=0.541;InbreedingCoeff=-0.0714;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=0.084;SOR=0.733	GT:AD:DP:GQ:PL	0/1:92,68:160:99:1800,0,2289	9	2	10	0
chr19	7125507	7125507	C	T	exonic	INSR	.	nonsynonymous SNV	INSR:NM_001079817:exon16:c.G2998A:p.V1000M	Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5, Autosomal dominant;Leprechaunism, Autosomal recessive;Rabson-Mendenhall syndrome, Autosomal recessive	.	0	1450	72	0	0	72	0.0242261	.	.	29746	Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans|Bailey-Bloch_congenital_myopathy|Leprechaunism_syndrome|Rabson-Mendenhall_syndrome|not_specified|Type_2_diabetes_mellitus|Monogenic_diabetes|not_provided	MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297|MONDO:MONDO:0009722,MedGen:C1850625,OMIM:255995,Orphanet:168572|MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508|MONDO:MONDO:0009874,MedGen:C0271695,OMIM:262190,Orphanet:769|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|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.998	D	0.768	P	0.001	D	0.925	A	2.475	M	-2.51	D	0.644	D	0.669	D	0.74	4.180	21.6	5.06	2.638	3.050	9.350	0.634	.	0.0064	0.00499201	0.0090	0.0018	0.0021	0	0.0067	0.0093	0.0111	0.0225	0.0084346	1304	154602	rs1799816	0.0078	0.0078	0.0070	0.0085	0.0231	0.0076	0.0076	0.0222	0.0219	0.0012	0.0022	0.0161	5.038e-05	0.0069	0.0165	0.0070	0.0084	0.0231	0.0054	0.0054	0.0054	0.0054	0.0178	0.0051	0.0050	0.0148	0.0137	0.0013	0	0.0047	0.0147	0.0002	0.0059	0.0170	0.0071	0.0047	0.0178	0.003	0.68238	D	0.016	0.60972	D	0.998	0.73220	D	0.768	0.56752	P	0.000878	0.41335	D	0.000000	0.925322	0.36801	A	2.875	0.83380	M	-2.51	0.89293	D	-2.42	0.53096	N	0.437	0.47580	0.644	0.92468	D	0.669	0.88531	D	9	0.010013849	0.00224	T	.	.	.	0.634	0.85975	.	.	0.952044451625	0.95153	0.5662976708801534	0.56557	1.39719179774	0.85110	0.765782415867	0.76792	T	0.663144	0.89916	D	-0.0943111	0.37363	T	0.108672	0.77484	D	0.0531365021631275	0.06042	T	0.915508	0.69822	D	0.26451603	0.49519	0.32346871	0.58278	0.36734384	0.58388	0.22650576	0.47629	-9.917	0.73413	D	0.4521786783482736	0.53580	0.193	0.41357	B	.;.	.;.	4.485617	0.70018	25.5	0.99905905516237403	0.97651	0.90575	0.51865	D	AEFDBI	0.348033	0.44230	N	0.624024580061145	0.74697	6.176896	0.605951008884235	0.75372	6.298788	0.99957825998006	0.40495	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	5.06	5.06	0.67838	2.609000	0.45981	7.593000	0.61311	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.989000	0.64315	0.0:0.9053:0.0:0.0947	9.350	0.37291	889	0.27310	.;.	.	.	.	.	.	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	0.02381	2115.98	38	chr19	7125507	.	C	T	2115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.19;DP=1012;ExcessHet=0.0000;FS=2.102;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-6.800e-02;SOR=0.878	GT:AD:DP:GQ:PL	0/1:75,78:153:99:2130,0,1766	20	0	1	0
chr19	39422762	39422762	G	A	exonic	PLEKHG2	.	nonsynonymous SNV	PLEKHG2:NM_001351693:exon18:c.G1531A:p.G511R	Leukodystrophy and acquired microcephaly with or without dystonia, Autosomal recessive	YES	421	1095	6	0	0	6	0.00273224	.	.	389177	not_provided|Abnormal_brain_morphology	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.71	T	0.119	B	0.017	B	0.070	N	0.703	D	0.625	N	-0.6	T	-0.902	T	0.162	T	0.226	-0.130	3.363	-2.66	-0.213	0.380	9.993	0.092	0.0323770695073	7.7e-05	.	9.952e-05	9.802e-05	0	0.0002	0	0.0001	0	0.0001	9.7e-05	15	154602	rs370673772	7.587e-05	7.73e-05	7.018e-05	8.177e-05	0.0002	6.377e-05	5.959e-05	0.0001	8.603e-05	0.0002	0.0001	0.0001	2.561e-05	0	0.0002	6.822e-05	0.0001	0.0002	9.867e-05	9.854e-05	0.0001	6.733e-05	0.0001	6.013e-05	4.885e-05	7.912e-05	5.996e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.4	0.10482	T	0.226	0.27414	T	0.119	0.26641	B	0.012	0.16012	B	0.070237	0.21553	N	0.341096	0.702524	0.33436	D	0.485	0.13215	N	-0.8	0.73845	T	-0.75	0.21003	N	0.208	0.23125	-0.9021	0.47771	T	0.162	0.49781	T	10	0.039737165	0.02488	T	0.032377	0.54220	D	0.092	0.26621	0.123	0.02942	0.207176502487	0.20327	0.1247382091920939	0.12399	.	.	0.377633064985	0.21920	T	0.002026	0.01432	T	-0.324219	0.06558	T	-0.42406	0.30610	T	0.0086155843916963	0.00105	T	0.720328	0.33319	T	0.023363322	0.01070	0.03989689	0.04190	0.023363322	0.01070	0.03989689	0.04190	-4.932	0.36093	T	.	.	0.092	0.18539	B	.;.	.;.	1.186957	0.15778	12.10	0.66151428493401443	0.07976	0.10450	0.15953	N	AEFDGBI	0.053576	0.09666	N	-1.21084912628357	0.04840	0.219356	-1.21235822934504	0.05711	0.2728624	0.999991300549885	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	-2.66	0.05721	0.264000	0.18264	.	.	-0.823000	0.02940	0.172000	0.23960	0.523000	0.25320	0.030000	0.13115	0.5433:0.0:0.4567:0.0	9.993	0.41054	675	0.60470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1144.98	36	chr19	39422762	.	G	A	1144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.510e-01;DP=819;ExcessHet=0.0000;FS=0.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=1.39;SOR=0.561	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1159,0,964	20	0	1	0
chr19	40396784	40396784	A	G	exonic	PRX	.	nonsynonymous SNV	PRX:NM_181882:exon7:c.T1568C:p.L523P,	Charcot-Marie-Tooth disease, type 4F, Autosomal recessive;Dejerine-Sottas disease, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	349863	Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_4F|Charcot-Marie-Tooth_disease_type_4	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013959,MedGen:C3540453,OMIM:614895,Orphanet:99952|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.006	N	1.000	N	-2.215	N	4.44	T	-0.915	T	0.002	T	0.101	-1.029	0.220	1.9	0.370	0.748	7.784	0.025	0.00187235728064	.	0.000399361	4.188e-05	0.0001	0	0	0	0	0	0.0002	7.68e-05	2	26028	rs550446238	1.872e-05	3.42e-05	1.518e-05	2.229e-05	0.0002	1.282e-05	1.099e-05	9.981e-05	7.987e-05	3.047e-05	4.752e-05	0	2.588e-05	1.886e-05	0	5.449e-06	3.384e-05	0.0002	0.0003	0.0006	0.0002	0.0004	0.0007	0.0002	0.0002	0.0003	0.0002	0.0005	0.0023	0	0	0.0007	0.0008	0	0.0001	0	0.0007	0.213	0.19430	T	0.414	0.14369	T	0.0	0.02946	B	0.0	0.01387	B	0.006204	0.32193	N	0.144240	0.999999	0.08975	N	-2.515	0.00055	N	4.44	0.02139	T	3.36	0.00099	N	0.082	0.05799	-0.9147	0.46259	T	0.002	0.00526	T	10	0.013767213	0.00291	T	0.001872	0.03272	T	0.025	0.05312	.	.	0.141422826196	0.13715	0.0888080930056007	0.08813	0.358169936136	0.37530	0.334310591221	0.15584	T	0.054246	0.29669	T	-0.458171	0.01009	T	-0.711892	0.05199	T	0.0281035651205104	0.01703	T	0.294071	0.05417	T	0.05819368	0.11677	0.08367596	0.19194	0.05819368	0.11677	0.08367596	0.19194	2.898	0.00023	T	.	.	0.031	0.00001	B	.	.	0.043170	0.04589	1.264	0.56623206213519695	0.05592	0.00196	0.01131	N	AEFBI	0.026018	0.01879	N	-1.49490234655684	0.01886	0.08273223	-1.34381341161578	0.03879	0.1818628	0.0251342608522216	0.13628	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.06	1.9	0.24770	1.115000	0.30823	.	.	-0.699000	0.04065	0.058000	0.21700	0.006000	0.19429	0.003000	0.05239	0.2047:0.0:0.7953:0.0	7.784	0.28243	754	0.51307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	6859.98	38	chr19	40396784	.	A	G	6859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.430e+00;DP=1380;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.68;MQRankSum=-4.378e+00;QD=11.67;ReadPosRankSum=-2.020e-01;SOR=0.643	GT:AD:DP:GQ:PL	0/1:299,289:588:99:6874,0,7969	20	0	1	0
chr19	49182772	49182807	CAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT	-	exonic	TRPM4	.	nonframeshift deletion	TRPM4:NM_001321285:exon6:c.396_431del:p.K133_L144del	Progressive familial heart block, type IB, Autosomal dominant	.	0	1507	15	0	0	15	0.00495213	.	.	243379	Cardiomyopathy|TRPM4-related_disorder|Progressive_familial_heart_block_type_IB|Brugada_syndrome|Cardiovascular_phenotype|not_specified|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239424|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	0.00439297	0.0083	0.0021	0.0084	0.0001	0.0050	0.0112	0.0104	0.0059	0.0013447	35	26028	rs1367254203	0.0117	0.0117	0.0119	0.0116	0.0134	0.0116	0.0115	0.0132	0.0131	0.0014	0.0066	0.0147	7.557e-05	0.0046	0.0036	0.0134	0.0112	0.0067	0.0073	0.0073	0.0076	0.0070	0.0120	0.0069	0.0068	0.0113	0.0110	0.0020	0	0.0038	0.0144	0	0.0040	0	0.0120	0.0062	0.0097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1212.94	40	chr19	49182771	.	CCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT	C	1212.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=861;ExcessHet=0.0000;FS=3.211;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=-1.298e+00;SOR=1.122	GT:AD:DP:GQ:PL	0/1:50,33:83:99:1227,0,1999	20	0	1	0
chr19	49865203	49865203	C	T	exonic	PNKP	.	nonsynonymous SNV	PNKP:NM_007254:exon4:c.G422A:p.R141Q,	Ataxia-oculomotor apraxia 4, Autosomal recessive;Microcephaly, seizures, and developmental delay, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203610	not_provided|Developmental_and_epileptic_encephalopathy,_12|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.65	T	0.323	B	0.039	B	0.456	N	1.000	N	1.1	L	0.95	T	-1.074	T	0.072	T	0.407	0.704	7.756	4.12	2.297	2.321	12.014	0.070	0.0202145456815	.	0.000199681	0.0001	0	8.661e-05	0	0	3.008e-05	0	0.0009	0.0001229	19	154602	rs570013652	9.235e-05	9.235e-05	5.309e-05	0.0001	0.0012	7.958e-05	7.431e-05	0.0010	0.0010	0	0	0	2.519e-05	0	0.0002	2.158e-05	6.623e-05	0.0012	3.282e-05	3.28e-05	2.569e-05	4.027e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.361	0.11882	T	0.261	0.22962	T	0.182	0.29148	B	0.023	0.19966	B	0.456163	0.12447	N	0.688017	0.999999	0.08975	N	2.56	0.74772	M	0.66	0.52416	T	0.0	0.07008	N	0.434	0.47301	-1.0736	0.08639	T	0.072	0.29259	T	10	0.02307123	0.00593	T	0.020215	0.42769	T	0.070	0.20419	0.304	0.27325	0.494165489436	0.49052	0.3349458067103662	0.33407	0.141977382517	0.16002	0.41095867753	0.26590	T	0.018728	0.24335	T	-0.36716	0.03741	T	-0.345728	0.39693	T	0.0383052167266601	0.03386	T	0.951205	0.84033	D	0.104442835	0.24689	0.055586793	0.09779	0.078177765	0.17788	0.053364135	0.08975	-9.886	0.73226	D	0.11294136288218565	0.09827	0.087	0.19879	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.690266	0.52580	23.3	0.97905143121443994	0.36773	0.34973	0.25193	N	AEFDGBI	0.109861	0.21806	N	-0.439222807868307	0.24106	1.299346	-0.373768160179192	0.25781	1.419945	0.999999993332086	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	4.12	4.12	0.47504	2.119000	0.41582	4.751000	0.44659	0.599000	0.40250	0.567000	0.27481	1.000000	0.68203	0.467000	0.28274	0.0:1.0:0.0:0.0	12.014	0.52596	594	0.68584	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1867.98	47	chr19	49865203	.	C	T	1867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=980;ExcessHet=0.0000;FS=3.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=1.04;SOR=0.454	GT:AD:DP:GQ:PL	0/1:90,71:161:99:1882,0,2307	20	0	1	0
chr19	54191357	54191357	G	A	UTR5	TSEN34	NM_001077446:c.-8G>A	.	.	.	.	7	1511	4	0	0	4	0.00132188	0.0001	0.002	268468	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0001	0	0	0	0	0.0002	0	0.0001	9.7e-05	15	154602	rs573039542	0.0001	0.0001	8.616e-05	0.0001	0.0007	9.693e-05	9.133e-05	0.0002	0.0001	3.172e-05	0.0003	0	0	0	0.0007	0.0001	0.0003	0.0002	5.91e-05	5.906e-05	7.709e-05	4.029e-05	0.0002	3.075e-05	2.209e-05	4.767e-05	3.34e-05	0	0	6.533e-05	0	0.0002	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	183.98	21	chr19	54191357	.	G	A	183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=550;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.81;ReadPosRankSum=0.00;SOR=1.002	GT:AD:DP:GQ:PL	0/1:20,7:27:99:198,0,542	20	0	1	0
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	Spermatogenic_Failure|not_provided	MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	15157.31	51	chr19	57231146	.	G	GC	15157.31	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.507;DP=1282;ExcessHet=3.4384;FS=0.000;InbreedingCoeff=-0.1455;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=15.29;ReadPosRankSum=0.460;SOR=0.668	GT:AD:DP:GQ:PL	0/1:31,34:65:99:911,0,816	5	4	12	0
chr20	3234173	3234173	T	G	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	YES	0	589	691	242	0	1175	0.499363	.	.	257346	Corneal_dystrophy|Corneal_dystrophy-perceptive_deafness_syndrome|Congenital_hereditary_endothelial_dystrophy_of_cornea|not_specified|not_provided	Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4809	0.479832	0.4365	0.6500	0.4606	0.5707	0.5076	0.4051	0.4592	0.3121	0.0001537	4	26028	rs3827075	0.4110	0.4110	0.4142	0.4077	0.6526	0.4101	0.4098	0.6453	0.6423	0.6526	0.4601	0.3812	0.5478	0.5051	0.3844	0.3997	0.4275	0.3151	0.4855	0.4856	0.4826	0.4886	0.6474	0.4826	0.4814	0.6409	0.6382	0.6474	0.4582	0.4720	0.3725	0.5688	0.5216	0.3596	0.3968	0.4409	0.3309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.3333	35431.43	188	chr20	3234173	.	T	G	35431.43	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.203e+00;DP=2845;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-5.900e-02;SOR=0.710	GT:AD:DP:GQ:PL	0/1:101,85:186:99:2037,0,2533	9	2	10	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	.	212	501	433	376	0	1185	0.541838	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	3412.19	6	chr20	44429378	.	T	C	3412.19	.	AC=25;AF=0.658;AN=38;BaseQRankSum=0.508;DP=206;ExcessHet=0.3394;FS=7.051;InbreedingCoeff=0.0621;MLEAC=26;MLEAF=0.684;MQ=60.00;MQRankSum=0.00;QD=18.25;ReadPosRankSum=0.00;SOR=1.306	GT:AD:DP:GQ:PL	1/1:0,4:4:12:171,12,0	3	9	7	2
chr22	18918451	18918451	C	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon11:c.G968A:p.R323H	.	YES	1	1322	185	14	0	213	0.0745537	.	.	19050	Schizophrenia_4|Proline_dehydrogenase_deficiency	MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.996	D	0.87	P	0.000	N	0.999	D	2.34	M	1.31	T	-1.182	T	0.006	T	0.184	3.914	19.91	1.16	0.474	1.178	8.739	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	1	0	0	0	0	0	0	1	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	0.1429	8091.03	33	chr22	18918451	.	C	T	8091.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.180;DP=1233;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=57.11;MQRankSum=-4.149e+00;QD=13.11;ReadPosRankSum=0.895;SOR=0.691	GT:AD:DP:GQ:PL	0/1:45,42:87:99:1085,0,1149	15	0	6	0
chr22	31893731	31893731	G	A	exonic	DEPDC5	.	nonsynonymous SNV	DEPDC5:NM_001242897:exon36:c.G3883A:p.A1295T	Epilepsy, familial focal, with variable foci 1, Autosomal dominant	.	429	1090	3	0	0	3	0.00137426	.	.	574118	not_provided|Inborn_genetic_diseases|Familial_focal_epilepsy_with_variable_foci	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020310,MedGen:C1858477,OMIM:PS604364,Orphanet:98820	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.996	D	0.000	D	1.000	D	1.5	L	1.59	T	-0.775	T	0.228	T	0.839	4.444	23.7	4.1	1.143	6.343	14.173	0.239	0.0233677778124	.	.	4.255e-05	0	0.0002	0	0	4.558e-05	0	0	3.88e-05	6	154602	rs764462476	3.984e-05	4.173e-05	3.828e-05	4.142e-05	0.0003	3.126e-05	2.858e-05	0.0001	9.502e-05	6.039e-05	0.0002	0	0	0	0.0003	2.613e-05	0.0001	9.385e-05	4.601e-05	4.597e-05	3.855e-05	5.382e-05	6.545e-05	2.11e-05	1.527e-05	1.171e-05	6.25e-06	4.827e-05	0	6.545e-05	0	0	0	0	4.41e-05	0.0005	0	0.005	0.63226	D	0.038	0.51421	D	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.060252	0.999997	0.81001	D	1.935	0.51832	L	1.15	0.38236	T	-2.09	0.49187	N	0.552	0.75650	-0.7749	0.56587	T	0.228	0.59309	T	10	0.28142154	0.45719	T	0.023368	0.46327	T	0.251	0.56024	.	.	0.301078425253	0.29709	.	.	2.38724322197	0.97073	0.771933138371	0.77715	T	0.05929	0.31076	T	-0.0285185	0.47632	T	-0.00444166	0.70048	D	0.19173501431942	0.19946	T	0.932107	0.74696	D	0.29082054	0.52068	0.2460058	0.50100	0.29082054	0.52068	0.2460058	0.50099	-6.307	0.49307	T	0.5739794622821409	0.64101	0.297	0.60571	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.584366	0.50547	23.0	0.9992106418223643	0.98787	0.97211	0.73346	D	AEFDGBI	0.628971	0.61086	D	0.0833745978602639	0.45687	2.821164	0.0729893076905297	0.43195	2.62639	0.999999979119711	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.674467	0.66132	0	.	.	5.12	4.1	0.47196	6.460000	0.73433	8.539000	0.77485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0:0.0:0.8495:0.1505	14.173	0.65059	219	0.91485	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1026.98	34	chr22	31893731	.	G	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.410e-01;DP=780;ExcessHet=0.0000;FS=1.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=3.28;SOR=0.479	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1041,0,1021	20	0	1	0
chr22	41127532	41127532	C	G	exonic	EP300	.	nonsynonymous SNV	EP300:NM_001362843:exon4:c.C952G:p.P318A	Colorectal cancer, somatic;Rubinstein-Taybi syndrome 2, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	215600	not_provided|not_specified|Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency|EP300-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.9	T	0.024	B	0.035	B	0.037	N	0.764	D	0.895	L	-1.64	D	-0.760	T	0.270	T	0.14	1.547	11.13	3.73	2.857	1.306	3.111	0.213	0.0135464453857	.	.	2.488e-05	0	0	0	0	4.537e-05	0	0	2.59e-05	4	154602	rs762647727	2.941e-05	2.941e-05	2.995e-05	2.888e-05	0.0014	2.216e-05	1.97e-05	0.0007	0.0005	2.987e-05	0.0002	0	0	0	0.0014	2.248e-05	3.311e-05	0	2.628e-05	2.627e-05	2.569e-05	2.69e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.258	0.16683	T	0.311	0.19660	T	0.024	0.19075	B	0.035	0.22741	B	0.036531	0.24511	N	0.285984	0.763547	0.34067	D	-0.46	0.02758	N	-1.64	0.82533	D	-0.4	0.13805	N	0.155	0.16028	-0.7600	0.57405	T	0.270	0.64120	T	10	0.09916365	0.17978	T	0.013546	0.33038	T	0.213	0.50496	0.354	0.35408	0.763884886649	0.76173	0.10021698192741767	0.09952	.	.	0.409803628922	0.26429	T	0.346567	0.71481	T	-0.227369	0.16998	T	-0.367405	0.37192	T	0.0263589149251819	0.01455	T	0.732627	0.34815	T	0.02828497	0.02142	0.03386253	0.02353	0.02828497	0.02141	0.03386253	0.02353	-3.7	0.19318	T	.	.	0.050	0.00139	B	.	.	1.700779	0.21666	15.30	0.8864165022712267	0.18137	0.59109	0.30825	D	AEFDBI	0.055416	0.10160	N	-0.244558909713806	0.31322	1.755068	-0.0297940509438442	0.38375	2.260057	0.647188588158773	0.22120	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.02	3.73	0.41982	1.509000	0.35387	1.348000	0.25786	0.599000	0.40250	0.924000	0.32081	0.788000	0.26838	0.991000	0.66497	0.2411:0.415:0.2577:0.0861	3.111	0.05977	289	0.88525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1278.98	33	chr22	41127532	.	C	G	1278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=764;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.19;ReadPosRankSum=1.55;SOR=0.929	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1293,0,936	20	0	1	0
chr22	42619789	42619789	C	T	exonic	CYB5R3	.	nonsynonymous SNV	CYB5R3:NM_000398:exon9:c.G890A:p.R297H	Methemoglobinemia, type I, Autosomal recessive;Methemoglobinemia, type II, Autosomal recessive	.	1	1463	55	3	0	61	0.0204218	.	.	682758	not_provided|Neurodevelopmental_delay|CYB5R3-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.991	D	0.523	P	0.113	N	0.998	D	1.205	L	-3.59	D	0.235	D	0.703	D	0.303	3.423	17.57	1.82	1.079	0.396	6.587	0.319	.	0.0022	0.00119808	0.0040	0.0014	0.0022	0	0	0.0037	0.0149	0.0073	0.0016494	255	154602	rs76458556	0.0023	0.0023	0.0021	0.0025	0.0153	0.0022	0.0022	0.0128	0.0118	0.0005	0.0014	0.0007	0	6.285e-05	0.0153	0.0022	0.0024	0.0068	0.0016	0.0016	0.0015	0.0017	0.0054	0.0014	0.0014	0.0038	0.0032	0.0005	0.0022	0.0011	0.0003	0	0.0002	0.0068	0.0025	0.0019	0.0054	0.077	0.34095	T	0.087	0.40747	T	0.084	0.24799	B	0.016	0.17743	B	0.113182	0.19326	N	0.434279	0.998303	0.44746	D	1.25	0.31749	L	-3.59	0.94975	D	-1.94	0.45042	N	0.111	0.32921	0.235	0.86489	D	0.703	0.89764	D	10	0.007664025	0.00174	T	.	.	.	0.319	0.64112	.	.	0.960624261791	0.96019	0.6007211945832572	0.60003	0.0434582521418	0.04681	0.357403516769	0.19007	T	0.117295	0.43728	T	-0.244098	0.14831	T	-0.120517	0.61760	T	0.0289255598202967	0.01825	T	0.840716	0.51609	T	0.09107395	0.21330	0.07129316	0.15248	0.14577486	0.33399	0.059444956	0.11156	-7.29	0.56124	T	.	.	0.082	0.19316	B	.;.;.;.;.	.;.;.;.;.	2.354933	0.30199	18.36	0.99866928314332859	0.94457	0.78552	0.38772	D	AEFDBCI	0.364338	0.45291	N	-0.13187722446818	0.36009	2.075726	-0.0963347161300037	0.35541	2.057451	0.999798002284709	0.43153	0.706548	0.73137	0	0.702456	0.74545	0	0.786243	0.99158	0	0.714379	0.83352	0	.	.	4.09	1.82	0.24209	1.193000	0.31771	0.542000	0.19343	-0.270000	0.06752	1.000000	0.71638	0.997000	0.33255	0.838000	0.39538	0.225:0.6724:0.0:0.1026	6.587	0.21822	255	0.89985	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	951.98	33	chr22	42619789	.	C	T	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=-6.410e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/1:55,40:95:99:966,0,1284	20	0	1	0
chr22	43928847	43928847	C	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon3:c.C444G:p.I148M,	.	.	418	622	397	85	0	567	0.313087	.	.	352627	NAFLD1|Hepatic_steatosis|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.03	D	0.994	D	0.944	D	0.016	N	0.000	P	3.265	M	-1.41	T	-1.028	T	0.000	T	0.209	1.841	12.12	-1.97	-0.125	-0.914	6.383	0.339	.	0.1953	0.262181	0.2632	0.1376	0.5723	0.3785	0.2262	0.2293	0.2687	0.2174	0.255825	39551	154602	rs738409	0.2325	0.2339	0.2333	0.2317	0.5358	0.2319	0.2316	0.5301	0.5278	0.1320	0.5358	0.2180	0.4180	0.2272	0.2696	0.2179	0.2294	0.2237	0.2281	0.2285	0.2230	0.2335	0.4235	0.2261	0.2253	0.4148	0.4113	0.1395	0.2720	0.4235	0.2111	0.3866	0.2201	0.2483	0.2262	0.2624	0.2372	0.054	0.38633	T	0.003	0.76473	D	0.994	0.66517	D	0.944	0.68059	D	0.016391	0.27990	N	0.316000	0.000289165	0.48481	P	3.045	0.86684	M	-1.41	0.80560	T	-2.57	0.55501	D	0.173	0.18512	-1.0285	0.20940	T	0.000	0.00011	T	9	0.0025928915	0.00039	T	.	.	.	0.339	0.66106	.	.	.	.	0.6869485544173306	0.68634	0.503164557005	0.48655	0.487125337124	0.37040	T	0.29702	0.66963	T	-0.485539	0.00687	T	-0.326399	0.41867	T	0.0306719473680774	0.02094	T	0.692831	0.33234	T	0.40859076	0.61323	0.35764056	0.61255	0.40859076	0.61324	0.35764056	0.61254	-9.124	0.68491	D	.	.	0.329	0.55166	B	.;.	.;.	1.374372	0.17849	13.40	0.99302197316743868	0.58686	0.52933	0.29250	D	AEFBCI	0.108930	0.21653	N	-0.255780834863084	0.30874	1.725634	-0.533311740709871	0.21251	1.14871	0.99975902258671	0.42595	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.7	-1.97	0.07091	-1.142000	0.03314	-1.110000	0.06300	-0.176000	0.10722	0.009000	0.18154	0.001000	0.17328	0.035000	0.13729	0.0:0.4064:0.2195:0.3741	6.383	0.20749	855	0.34697	Patatin-like phospholipase domain|Patatin-like phospholipase domain;.	SAMM50|SAMM50|SAMM50|PNPLA3|PNPLA3	Adipose_Subcutaneous|Breast_Mammary_Tissue|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	SAMM50|SAMM50|SAMM50|PNPLA3|SAMM50	Artery_Tibial|Colon_Sigmoid|Prostate|Skin_Sun_Exposed_Lower_leg|Testis	rs738409	Uncertain significance	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.3571	34134.34	43	chr22	43928847	.	C	G	34134.34	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.62;DP=2033;ExcessHet=3.1640;FS=0.521;InbreedingCoeff=-0.1407;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=20.50;ReadPosRankSum=0.110;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,60:129:99:0|1:43928847_C_G:2258,0,2717:43928847	8	2	11	0
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	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	0.000	N	1.000	P	0	N	1.36	T	-0.993	T	0.000	T	0.017	-1.344	0.030	-5.47	-1.617	-2.202	1.474	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.6905	60939.29	38	chr22	43946236	.	A	G	60939.29	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.056e+00;DP=2777;ExcessHet=0.0158;FS=0.717;InbreedingCoeff=0.4430;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=24.07;ReadPosRankSum=0.942;SOR=0.789	GT:AD:DP:GQ:PL	1/1:0,158:158:99:4825,473,0	4	12	5	0
chrX	67546515	67546547	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1401del:p.G463_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	1337344	Androgen_resistance_syndrome|Kennedy_disease|AR-related_disorder	MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186626054	0.0006	0.0005	0.0005	0.0007	0.0061	0.0005	0.0005	0.0030	0.0022	0.0025	0.0030	0.0014	0.0004	9.153e-05	0.0061	0.0003	0.0017	0.0010	0.0008	0.0006	0.0007	0.0008	0.0022	0.0006	0.0006	0.0014	0.0011	0.0013	0	0.0022	0.0009	0	0	0	0.0003	0.0009	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,11,0,0,0,0,0:12:4:.:.:389,0,4,393,38,430,393,38,430,430,393,38,430,430,430,393,38,430,430,430,430,393,38,430,430,430,430,430	11	3	1	0