Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES977	WT	HH	HZ	NC
chr1	5890953	5890953	C	T	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_001291594:exon13:c.G683A:p.R228H,NPHP4:NM_001291593:exon14:c.G680A:p.R227H,NPHP4:NM_015102:exon17:c.G2219A:p.R740H	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	1	1442	76	3	0	82	0.0276467	.	.	.	238340	Bardet-Biedl_syndrome|not_provided|Nephronophthisis_4|Senior-Loken_syndrome_4|not_specified|Atypical_hemolytic-uremic_syndrome|Nephronophthisis	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:C3661900|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156|MedGen:CN169374|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.239	.	0.0242	0.00938498	0.0311	0.0075	0.0102	0.0003	0.0471	0.0402	0.0368	0.0296	0.0243723	3768	154602	rs34248917	0.0300	0.0300	0.0300	0.0300	0.0326	0.0298	0.0297	0.0324	0.0322	0.0049	0.0102	0.0366	0.0005	0.0386	0.0164	0.0326	0.0274	0.0251	0.0223	0.0223	0.0220	0.0225	0.0327	0.0216	0.0214	0.0315	0.0311	0.0057	0.0285	0.0156	0.0452	0.0008	0.0323	0.0068	0.0327	0.0217	0.0236	0.534	0.06935	T	0.369	0.16522	T	0.016	0.17332	B	0.006	0.12133	B	0.862311	0.08886	N	0.931947	1	0.08975	N	0.315	0.10303	N	-2.22	0.87038	D	-0.42	0.14193	N	0.131	0.12627	-0.8810	0.49681	T	0.156	0.48790	T	10	0.006297469	0.00142	T	.	.	.	0.239	0.54358	.	.	.	.	0.2760457289783851	0.27517	0.0864815498929	0.09759	0.203583911061	0.00568	T	0.152686	0.49319	T	-0.406008	0.02113	T	-0.328819	0.41600	T	0.00371215232146106	0.00039	T	0.711029	0.32195	T	0.024680959	0.01325	0.042967882	0.05238	0.027048202	0.01843	0.0392318	0.03968	-7.748	0.59341	D	0.2280519815648202	0.30837	0.065	0.02012	B	.;.	.;.	-0.648373	0.01444	0.087	0.69946415429758746	0.09135	0.03662	0.08921	N	AEFDBI	0.042998	0.06742	N	-1.76188178073329	0.00645	0.02783866	-1.80449186497077	0.00745	0.0332001	0.999996942826517	0.74766	0.675385	0.55134	0	0.633656	0.55848	0	0.693117	0.63056	0	0.655142	0.61905	0	.	.	5.61	-7.21	0.01340	-0.523000	0.06316	-5.315000	0.01765	-1.065000	0.01608	0.007000	0.17678	0.000000	0.08366	0.013000	0.09966	0.0:0.3723:0.0:0.6277	17.619	0.87976	946	0.12043	.;.	NPHP4|NPHP4|NPHP4|NPHP4	Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	.	.	rs34248917	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017189	0.025510	0.008152	0.011765	0.000000	0.034483	0.018634	0.034091	0.02632	2301.33	36	chr1	5890953	.	C	T	2301.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=790;ExcessHet=0;FS=4.057;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=-1.655;SOR=0.417	GT:AD:DP:GQ:PL	0/1:63,77:140:99:2315,0,1639	18	0	1	0
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q	Hypercholesterolemia, familial, 3	1	0	1	1520	0	3041	1	.	.	.	249989	Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|not_provided|not_specified|Cardiovascular_phenotype|Hypobetalipoproteinemia	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.994965	0.974747	0.994565	0.997076	1.000000	1.000000	0.996951	1.000000	1.0	102349.0	197	chr1	55057360	.	A	G	102349.0	.	AC=38;AF=1;AN=38;BaseQRankSum=2;DP=3350;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=31.41;ReadPosRankSum=1.31;SOR=0.251	GT:AD:DP:GQ:PL	1/1:0,170:170:99:5364,510,0	0	19	0	0
chr1	55058082	55058082	C	T	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon8:c.C1227T:p.A409A	Hypercholesterolemia, familial, 3	0	1520	2	0	0	2	0.000657462	.	.	.	391518	not_specified|not_provided|Hypercholesterolemia,_familial,_1|Familial_hypercholesterolemia|Hypobetalipoproteinemia|Hypercholesterolemia,_autosomal_dominant,_3|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	.	9.117e-05	0	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs146924245	4.927e-05	4.925e-05	4.902e-05	4.951e-05	0.0002	3.993e-05	3.67e-05	4.525e-05	4.112e-05	0	0	0	5.038e-05	0	0.0002	5.665e-05	4.967e-05	3.478e-05	5.256e-05	5.253e-05	1.285e-05	9.413e-05	0.0001	2.557e-05	1.83e-05	3.762e-05	2.575e-05	0	0	0.0001	0	0	0	0	8.821e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.02632	998.33	33	chr1	55058082	.	C	T	998.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=728;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.429;SOR=0.762	GT:AD:DP:GQ:PL	0/1:47,38:85:99:1012,0,1174	18	0	1	0
chr1	89054647	89054652	AAAAAC	-	intronic	GBP1	.	.	.	.	630	387	266	239	0	744	0.490119	.	.	.	1310281	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.4335	0.384984	0.4653	0.2752	0.3198	0.3797	0.6032	0.5117	0.4919	0.4927	0.0001921	5	26028	rs66614512	0.5009	0.4988	0.4991	0.5027	0.5162	0.4999	0.4995	0.5150	0.5146	0.2892	0.3353	0.4420	0.3415	0.6034	0.4709	0.5162	0.4810	0.5115	0.4382	0.4403	0.4351	0.4415	0.5215	0.4354	0.4343	0.5169	0.5151	0.2908	0.4658	0.3465	0.4346	0.3728	0.6123	0.5069	0.5215	0.4378	0.5102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	16785.1	32	chr1	89054646	.	GAAAAAC	G	16785.1	.	AC=22;AF=0.579;AN=38;BaseQRankSum=0.619;DP=717;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.3523;MLEAC=22;MLEAF=0.579;MQ=59.94;MQRankSum=0;QD=32.09;ReadPosRankSum=0.749;SOR=0.642	GT:AD:DP:GQ:PL	1/1:0,48:48:99:2157,145,0	5	8	6	0
chr1	100196432	100196436	AAAAA	-	intronic	DBT	.	.	.	Maple syrup urine disease, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	265476	not_specified|Maple_syrup_urine_disease	MedGen:CN169374|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0066	0.0042	0.0164	0.0059	0.0154	0.0085	0.0369	0.0001153	3	26028	rs754946346	0.2509	0.2144	0.2509	0.2508	0.2606	0.2498	0.2493	0.2593	0.2588	0.1819	0.1956	0.2418	0.2549	0.2214	0.2604	0.2606	0.2479	0.2067	0.4488	0.4676	0.4467	0.4515	0.5509	0.4449	0.4433	0.5225	0.5111	0.3944	0.4656	0.5092	0.4787	0.4831	0.4988	0.5319	0.4530	0.4726	0.5509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6460.19	26	chr1	100196431	.	GAAAAA	G	6460.19	.	AC=6;AF=0.167;AN=36;BaseQRankSum=0.614;DP=620;ExcessHet=0.0003;FS=61.094;InbreedingCoeff=0.6325;MLEAC=6;MLEAF=0.167;MQ=59.99;MQRankSum=0;QD=26.26;ReadPosRankSum=0.842;SOR=2.465	GT:AD:DP:GQ:PL	0/1:1,10:24:79:696,177,155	12	0	6	1
chr1	158618068	158618068	G	A	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	3	913	508	98	0	704	0.278261	0.0005	0.264	YES	249428	Hemolytic_anemia|not_specified|Hereditary_spherocytosis_type_3|not_provided|Elliptocytosis_2|Pyropoikilocytosis,_hereditary	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|MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900|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	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	9760.8	91	chr1	158618068	.	G	A	9760.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.17;DP=1146;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.208;SOR=0.723	GT:AD:DP:GQ:PL	1/1:0,110:110:99:3312,330,0	11	1	7	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	5	902	520	95	0	710	0.282418	.	.	YES	249434	not_specified|Hereditary_spherocytosis_type_3|Pyropoikilocytosis,_hereditary|Elliptocytosis_2|Hemolytic_anemia|not_provided	MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|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|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.251259	0.282828	0.233696	0.292398	0.200000	0.250000	0.210366	0.265152	0.2368	13469.8	122	chr1	158627717	.	G	C	13469.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.065;DP=1324;ExcessHet=1.1637;FS=0.543;InbreedingCoeff=-0.0192;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-0.533;SOR=0.778	GT:AD:DP:GQ:PL	1/1:0,113:113:99:3571,339,0	11	1	7	0
chr1	158642929	158642929	C	T	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon32:c.G4490A:p.G1497E	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	0	1484	37	1	0	39	0.0129697	.	.	.	249441	not_provided|Hereditary_spherocytosis_type_3|not_specified|Pyropoikilocytosis,_hereditary|Elliptocytosis_2	MedGen:C3661900|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:CN169374|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.141	.	0.0127	0.00638978	0.0146	0.0027	0.0084	0	0.0333	0.0203	0.0244	0.0024	0.0140554	2173	154602	rs41273523	0.0160	0.0160	0.0162	0.0157	0.0178	0.0158	0.0157	0.0176	0.0175	0.0021	0.0071	0.0147	0	0.0303	0.0063	0.0178	0.0139	0.0032	0.0129	0.0129	0.0125	0.0132	0.0189	0.0124	0.0122	0.0180	0.0177	0.0030	0.0055	0.0079	0.0092	0	0.0337	0.0136	0.0189	0.0099	0.0021	0.064	0.36509	T	0.258	0.23164	T	0.35	0.33644	B	0.443	0.45803	B	0.006872	0.31745	N	0.000000	0.983778	0.24856	N	1.08	0.27187	L	1.74	0.26301	T	-5.83	0.88361	D	0.23	0.25867	-0.9613	0.38936	T	0.014	0.05561	T	10	0.0053780377	0.00118	T	.	.	.	0.141	0.37795	.	.	.	.	0.13838161370799618	0.13762	0.0748107221475	0.08394	0.46678352356	0.34240	T	0.490062	0.81502	T	-0.619011	0.00111	T	-0.645686	0.09260	T	0.074761690098687	0.09303	T	0.647535	0.25853	T	0.3380762	0.56125	0.2996009	0.55994	0.38203943	0.59464	0.36511707	0.61866	-9.152	0.68670	D	0.5492935585110598	0.61807	0.182	0.39562	B	.;.	.;.	1.978319	0.25134	16.65	0.77633972973420007	0.11958	0.91693	0.54063	D	AEFBI	0.570346	0.57476	D	-0.759486402152281	0.14377	0.7156615	-0.776076387955372	0.15083	0.7914509	0.00803134005942705	0.11597	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.2	0.00361	0.13377	4.752000	0.61873	1.127000	0.24293	-0.202000	0.08738	0.998000	0.41325	0.040000	0.21562	0.075000	0.16954	0.1286:0.5312:0.1246:0.2156	2.708	0.04847	607	0.67291	.;.	.	.	.	.	rs41273523	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004069	0.000000	0.001359	0.005848	0.000000	0.017241	0.006250	0.000000	0.05263	1729.83	55	chr1	158642929	.	C	T	1729.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4;DP=827;ExcessHet=0.119;FS=5.699;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.984;SOR=1.15	GT:AD:DP:GQ:PL	0/1:57,43:100:99:1040,0,1512	17	0	2	0
chr1	158668076	158668076	A	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277732	Pyropoikilocytosis,_hereditary|not_provided|Spherocytosis,_Recessive|Elliptocytosis	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.295927	0.2594	0.3676	0.2026	0.2423	0.2213	0.2473	0.2422	0.3088	0.0001153	3	26028	rs5778087	0.2240	0.2318	0.2228	0.2252	0.3653	0.2233	0.2230	0.3595	0.3571	0.3653	0.1704	0.2138	0.2344	0.1747	0.2460	0.2196	0.2324	0.2731	0.2818	0.2831	0.2829	0.2807	0.4731	0.2795	0.2785	0.4673	0.4649	0.4731	0.0657	0.1879	0.2095	0.2214	0.1760	0.2259	0.2103	0.2655	0.2866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	18811.2	56	chr1	158668075	.	GA	G	18811.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.476;DP=1409;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=-0.025;SOR=0.659	GT:AD:DP:GQ:PL	1/1:3,43:46:64:954,64,0	8	1	10	0
chr1	161214269	161214269	-	TG	UTR3	NDUFS2	NM_001377298:c.*76_*77insTG;NM_001377300:c.*328_*329insTG;NM_001377301:c.*328_*329insTG;NM_004550:c.*76_*77insTG;NM_001166159:c.*328_*329insTG;NM_001377299:c.*76_*77insTG;NM_001377302:c.*119_*120insTG	.	.	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	277997	not_provided|Mitochondrial_complex_I_deficiency	MedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs10629771	0.1891	0.2001	0.1864	0.1915	0.3431	0.1882	0.1879	0.3377	0.3355	0.2667	0.2662	0.2049	0.3431	0.2001	0.2120	0.1597	0.2040	0.2476	0.2808	0.2843	0.2797	0.2819	0.4674	0.2785	0.2776	0.4514	0.4450	0.3792	0.1481	0.2737	0.2503	0.4674	0.2163	0.2877	0.2202	0.2911	0.3197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	9816.21	27	chr1	161214269	.	C	CTG	9816.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.259;DP=884;ExcessHet=1.8686;FS=5.863;InbreedingCoeff=-0.0857;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=24.85;ReadPosRankSum=0.138;SOR=1.866	GT:AD:DP:GQ:PL	1/0:4,16:31:99:761,181,219	8	0	11	0
chr1	168293284	168293284	-	GTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278196	not_provided|not_specified|Congenital_isolated_adrenocorticotropic_hormone_deficiency	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	7705.08	28	chr1	168293284	.	A	AGTGT	7705.08	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.747;DP=1427;ExcessHet=3.4183;FS=14.134;InbreedingCoeff=-0.1579;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.78;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,11:53:99:.:.:333,0,1359:.	14	0	5	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	467	200	364	491	0	1346	0.770905	1.0000	0.918	YES	249563	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified	MedGen:C3661900|MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	Benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.6053	27495.8	67	chr1	179889309	.	G	A	27495.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.264;DP=1439;ExcessHet=0.233;FS=0;InbreedingCoeff=0.229;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=21.62;ReadPosRankSum=-0.651;SOR=0.736	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2894,261,0	4	8	7	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	207	250	453	612	0	1677	0.770326	.	.	YES	278205	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.631923	0.681818	0.582880	0.669591	0.500000	0.620690	0.606707	0.696970	0.5789	54755.1	207	chr1	196690107	.	C	T	54755.1	.	AC=22;AF=0.579;AN=38;BaseQRankSum=0.913;DP=2557;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.3523;MLEAC=22;MLEAF=0.579;MQ=59.96;MQRankSum=0;QD=23.47;ReadPosRankSum=0.71;SOR=0.683	GT:AD:DP:GQ:PL	0/1:92,93:185:99:2404,0,2488	5	8	6	0
chr1	196743447	196743447	T	C	intronic	CFH	.	.	.	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	2	810	709	1	0	711	0.305019	0	0.028	.	865078	Age_related_macular_degeneration_4|Basal_laminar_drusen|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_specified|Atypical_hemolytic-uremic_syndrome|not_provided	MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN169374|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2585	0.2335	0.3236	0.3530	0.2551	0.2478	0.2636	0.2241	0.0001035	16	154602	rs513699	0.0899	0.2501	0.0919	0.0878	0.1935	0.0893	0.0891	0.1884	0.1864	0.0730	0.1344	0.0955	0.1935	0.1086	0.0549	0.0875	0.0860	0.0598	0.0293	0.1436	0.0285	0.0300	0.0485	0.0284	0.0280	0.0448	0.0434	0.0296	0.0038	0.0485	0.0263	0.0478	0.0280	0.0084	0.0251	0.0321	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	11863.2	279	chr1	196743447	.	T	C	11863.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.21;DP=2476;ExcessHet=4.0268;FS=6.012;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=57.5;MQRankSum=-15.45;QD=5.68;ReadPosRankSum=-2.013;SOR=1.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,49:266:99:0|1:196743447_T_C:1380,0,8774:196743447	11	0	8	0
chr1	205064636	205064636	C	A	exonic	CNTN2	.	nonsynonymous SNV	CNTN2:NM_001346083:exon12:c.C1405A:p.P469T,CNTN2:NM_005076:exon12:c.C1405A:p.P469T	.	429	1082	11	0	0	11	0.00505747	.	.	.	447696	CNTN2-related_disorder|Epilepsy,_familial_adult_myoclonic,_5	.|MONDO:MONDO:0014167,MedGen:C3809374,OMIM:615400,Orphanet:86814	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.0209714001438	0.0015	0.00139776	0.0017	0	0.0022	0	0	0.0023	0.0033	0.0015	0.0016623	257	154602	rs147693556	0.0021	0.0021	0.0020	0.0022	0.0068	0.0021	0.0020	0.0051	0.0045	0.0002	0.0015	0.0013	0	7.488e-05	0.0068	0.0024	0.0026	0.0019	0.0016	0.0016	0.0018	0.0014	0.0024	0.0014	0.0014	0.0020	0.0019	0.0002	0.0263	0.0024	0.0014	0	0	0.0068	0.0023	0.0028	0.0017	0.245	0.17410	T	0.483	0.11795	T	0.066	0.23586	B	0.102	0.30857	B	0.517359	0.11780	N	0.739987	0.764271	0.29506	N	1.065	0.27018	L	-0.18	0.65747	T	-1.58	0.38151	N	0.072	0.04547	-0.8319	0.53178	T	0.158	0.49161	T	10	0.0072214603	0.00164	T	0.020971	0.43663	T	0.041	0.10877	.	.	0.805989234046	0.80417	0.4562943859375925	0.45547	0.522610008405	0.49982	0.364295601845	0.20009	T	0.181402	0.53306	T	-0.442972	0.01242	T	-0.413379	0.31838	T	0.00727820218271539	0.00083	T	0.842016	0.51794	T	0.071878	0.15946	0.073502965	0.15979	0.071878	0.15945	0.073502965	0.15979	-6.144	0.47468	T	.	.	0.140	0.30739	B	.;.;.	.;.;.	2.564007	0.33215	19.27	0.92072947739311206	0.21420	0.83970	0.43059	D	AEFDBI	0.484428	0.52445	N	-0.266440301799545	0.30453	1.69816	-0.174129710219315	0.32491	1.849031	0.602848110557931	0.21740	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.47	3.54	0.39650	1.201000	0.31866	3.305000	0.37415	0.599000	0.40250	0.110000	0.22992	0.121000	0.22902	0.987000	0.62547	0.0:0.5243:0.3971:0.0786	9.444	0.37847	369	0.84396	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.000000	0.000000	0.008621	0.012195	0.003788	0.05263	2524.83	40	chr1	205064636	.	C	A	2524.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.674;DP=879;ExcessHet=0.119;FS=5.524;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=1.31;SOR=0.898	GT:AD:DP:GQ:PL	0/1:58,43:101:99:1297,0,1569	17	0	2	0
chr1	218405343	218405343	-	TTGTTG	intronic	TGFB2	.	.	.	Loeys-Dietz syndrome 4, Autosomal dominant	1	191	2	1	31	35	0.0103627	.	.	.	228353	not_specified|not_provided|Loeys-Dietz_syndrome|Loeys-Dietz_syndrome_4	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0472	.	0.0836	0.0783	0.0990	0.1545	0.0769	0.0726	0.0925	0.0859	0.0001153	3	26028	rs10482769	0.0777	0.0728	0.0769	0.0784	0.1591	0.0773	0.0771	0.1557	0.1543	0.0825	0.1058	0.0828	0.1591	0.0759	0.1057	0.0716	0.0835	0.0963	0.0762	0.0768	0.0740	0.0785	0.1503	0.0750	0.0745	0.1415	0.1380	0.0758	0.0176	0.0912	0.0780	0.1503	0.0778	0.1207	0.0673	0.0856	0.0789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	6804.99	33	chr1	218405343	.	T	TTTGTTG	6804.99	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.253;DP=1016;ExcessHet=0.2833;FS=0.574;InbreedingCoeff=0.1857;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=23.79;ReadPosRankSum=-0.089;SOR=0.62	GT:AD:DP:GQ:PL	0/1:23,9:32:99:300,0,941	11	1	7	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q	.	440	2	22	1058	0	2138	0.998133	.	.	YES	1704217	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	73654.4	149	chr1	226735804	.	G	T	73654.4	.	AC=38;AF=1;AN=38;BaseQRankSum=1.84;DP=2228;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=33.85;ReadPosRankSum=1.53;SOR=0.402	GT:AD:DP:GQ:PL	1/1:0,110:110:99:3856,330,0	0	19	0	0
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A	.	424	234	529	335	0	1199	0.719256	.	.	YES	1704219	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.625378	0.616162	0.653533	0.640351	0.700000	0.672414	0.628049	0.496212	0.4737	24135.2	90	chr1	226736237	.	A	C	24135.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.41;DP=1605;ExcessHet=1.9883;FS=1.834;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=19.22;ReadPosRankSum=0.395;SOR=0.86	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3355,285,0	5	4	10	0
chr1	226737175	226737183	CTGCCGCTG	-	exonic	ITPKB	.	nonframeshift deletion	ITPKB:NM_002221:exon2:c.276_284del:p.G94_S96del	.	422	529	453	118	0	689	0.39439	.	.	.	1704216	not_specified|Myeloproliferative_neoplasm,_unclassifiable	MedGen:CN169374|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2063	0.281949	0.2860	0.2580	0.2922	0.2649	0.2750	0.2861	0.3190	0.3021	0.0001153	3	26028	rs147889095	0.2812	0.2802	0.2803	0.2821	0.3168	0.2805	0.2802	0.3045	0.2996	0.2472	0.2922	0.2918	0.2716	0.2734	0.3168	0.2803	0.2944	0.2936	0.2774	0.2784	0.2782	0.2765	0.3020	0.2752	0.2742	0.2947	0.2918	0.2558	0.3792	0.3020	0.2989	0.2778	0.2744	0.2789	0.2810	0.2973	0.2968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	14118.8	41	chr1	226737174	.	ACTGCCGCTG	A	14118.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.056;DP=1038;ExcessHet=0.145;FS=0.582;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=26.54;ReadPosRankSum=0.202;SOR=0.622	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1933,130,0	10	3	6	0
chr1	235380162	235380163	TG	-	intronic	TBCE	.	.	.	Encephalopathy, progressive, with amyotrophy and optic atrophy, Autosomal recessive;Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive;Kenny-Caffey syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	281274	not_provided|Hypoparathyroidism-retardation-dysmorphism_syndrome	MedGen:C3661900|MONDO:MONDO:0009426,MedGen:C1855840,OMIM:241410,Orphanet:2323	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020747	54	26028	rs1300770843	0.0386	0.0629	0.0363	0.0409	0.0583	0.0383	0.0382	0.0569	0.0563	0.0108	0.0373	0.0430	0.0445	0.0451	0.0423	0.0366	0.0427	0.0583	0.1000	0.1097	0.1014	0.0984	0.1347	0.0986	0.0980	0.1310	0.1300	0.0362	0.0719	0.1136	0.1412	0.0785	0.1000	0.0949	0.1334	0.0830	0.1347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	14979.7	6	chr1	235380161	.	TTG	T	14979.7	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.067;DP=1059;ExcessHet=0.7564;FS=3.598;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=31.59;ReadPosRankSum=0.507;SOR=1.543	GT:AD:DP:GQ:PL	0/1:0,7:18:99:598,280,229	15	0	4	0
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	not_provided|Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG	MedGen:C3661900|MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7981.5	40	chr1	236897645	.	CT	C	7981.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.177;DP=1587;ExcessHet=22.3492;FS=0.549;InbreedingCoeff=-0.6784;MLEAC=18;MLEAF=0.474;MQ=59.99;MQRankSum=0;QD=7.76;ReadPosRankSum=0.087;SOR=0.638	GT:AD:DP:GQ:PL	0/1:48,16:73:99:239,0,1027	2	2	15	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|Catecholaminergic_polymorphic_ventricular_tachycardia|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	4921.59	12	chr1	237833281	.	G	GA	4921.59	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.027;DP=481;ExcessHet=2.8292;FS=3.582;InbreedingCoeff=-0.0917;MLEAC=20;MLEAF=0.526;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=-0.165;SOR=0.992	GT:AD:DP:GQ:PL	0/1:3,16:19:21:366,0,21	2	3	14	0
chr1	241500602	241500602	-	GAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281822	Hereditary_cancer-predisposing_syndrome|Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197364	5137	26028	rs144131869	0.2390	0.2461	0.2382	0.2398	0.2745	0.2383	0.2380	0.2714	0.2702	0.1455	0.2328	0.2278	0.1589	0.2024	0.2171	0.2445	0.2281	0.2745	0.2551	0.2521	0.2543	0.2559	0.3681	0.2528	0.2519	0.3526	0.3463	0.1524	0.2864	0.3169	0.2763	0.1697	0.2757	0.2852	0.2931	0.2723	0.3681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	12226.9	7	chr1	241500602	.	T	TGAGA	12226.9	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-0.478;DP=964;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.1668;MLEAC=12;MLEAF=0.333;MQ=59.98;MQRankSum=0;QD=31.68;ReadPosRankSum=-0.129;SOR=0.741	GT:AD:DP:GQ:PL	1/0:1,19:37:27:1191,199,153	7	1	10	1
chr1	241500602	241500602	-	GAGAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281943	Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_provided|not_specified	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0104887	273	26028	rs144131869	0.1525	0.1590	0.1541	0.1509	0.1598	0.1519	0.1517	0.1592	0.1589	0.1416	0.1037	0.1260	0.1186	0.1150	0.1201	0.1598	0.1481	0.1335	0.2022	0.2027	0.2033	0.2011	0.2258	0.2002	0.1994	0.2227	0.2215	0.1753	0.1505	0.1884	0.1918	0.1716	0.1744	0.1889	0.2258	0.1997	0.2131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	12226.9	7	chr1	241500602	.	T	TGAGAGA	12226.9	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-0.478;DP=964;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.1668;MLEAC=8;MLEAF=0.222;MQ=59.98;MQRankSum=0;QD=31.68;ReadPosRankSum=-0.129;SOR=0.741	GT:AD:DP:GQ:PL	0/1:1,8:37:27:1191,486,554	11	1	6	1
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I	Cystinuria, Autosomal recessive, Autosomal dominant	1	171	630	720	0	2070	0.858209	.	.	YES	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	.	.	.	.	.	.	.	.	0.154	.	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	0	0	0.646632	0.560606	0.637228	0.608392	0.700000	0.698276	0.698171	0.674242	0.7105	59601.6	170	chr2	44320435	.	G	A	59601.6	.	AC=27;AF=0.711;AN=38;BaseQRankSum=-1.741;DP=2554;ExcessHet=0.5777;FS=2.192;InbreedingCoeff=0.1044;MLEAC=27;MLEAF=0.711;MQ=60;MQRankSum=0;QD=24.75;ReadPosRankSum=-0.248;SOR=0.901	GT:AD:DP:GQ:PL	1/1:0,156:156:99:5246,468,0	2	10	7	0
chr2	44320462	44320462	C	T	exonic	SLC3A1	.	synonymous SNV	SLC3A1:NM_000341:exon10:c.C1881T:p.A627A	Cystinuria, Autosomal recessive, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	747649	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	.	.	.	.	.	.	.	.	.	.	.	.	2.473e-05	0	8.658e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs763292534	1.915e-05	1.915e-05	1.906e-05	1.925e-05	5.039e-05	1.328e-05	1.144e-05	1.175e-05	9.55e-06	2.987e-05	2.236e-05	0	5.039e-05	1.872e-05	0	1.799e-05	1.656e-05	2.319e-05	1.315e-05	1.314e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.02632	2606.33	40	chr2	44320462	.	C	T	2606.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=874;ExcessHet=0;FS=7.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-0.206;SOR=0.357	GT:AD:DP:GQ:PL	0/1:82,93:175:99:2620,0,2050	18	0	1	0
chr2	48713934	48713934	A	-	intronic	LHCGR;STON1-GTF2A1L	.	.	.	.	8	920	487	107	0	701	0.275876	.	.	.	45133	Gonadotropin-independent_familial_sexual_precocity|not_provided	MONDO:MONDO:0008303,MedGen:C0342549,OMIM:176410,Orphanet:3000|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1143	0.148762	.	.	.	.	.	.	.	.	0.0035252	545	154602	rs111834744	0.1024	0.0983	0.0993	0.1052	0.2237	0.1019	0.1017	0.2130	0.2087	0.1692	0.1756	0.1510	0.1562	0.1144	0.2237	0.0811	0.1200	0.1942	0.1216	0.1219	0.1175	0.1258	0.1888	0.1201	0.1195	0.1786	0.1745	0.1664	0.0209	0.1489	0.1473	0.1324	0.1139	0.2313	0.0830	0.1300	0.1888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	10965.2	34	chr2	48713933	.	CA	C	10965.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.005;DP=1010;ExcessHet=0.6689;FS=0.538;InbreedingCoeff=0.05;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=18.94;ReadPosRankSum=-0.101;SOR=0.61	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2913,217,0	12	1	6	0
chr2	69326244	69326244	A	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	290634	Congenital_myasthenic_syndrome_12|not_provided|not_specified|Congenital_Myasthenic_Syndrome,_Recessive	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900|MedGen:CN169374|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.5003	0.5725	0.4843	0.3357	0.5331	0.5252	0.4928	0.4503	0.0001537	4	26028	rs201330278	0.4721	0.4795	0.4728	0.4714	0.5446	0.4710	0.4706	0.5371	0.5340	0.5446	0.4487	0.5008	0.2970	0.4755	0.5037	0.4796	0.4730	0.4329	0.6332	0.6282	0.6394	0.6266	0.7813	0.6298	0.6283	0.7741	0.7711	0.7813	0.6810	0.5747	0.6455	0.3023	0.5629	0.6418	0.5950	0.6144	0.5344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	14153.8	45	chr2	69326243	.	GA	G	14153.8	.	AC=22;AF=0.579;AN=38;BaseQRankSum=0.541;DP=1148;ExcessHet=0.5308;FS=0;InbreedingCoeff=0.1634;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=0.436;SOR=0.712	GT:AD:DP:GQ:PL	1/1:2,74:81:99:1947,188,0	4	7	8	0
chr2	113062899	113062899	T	C	UTR3	IL36RN	NM_173170:c.*222T>C;NM_012275:c.*222T>C	.	.	Psoriasis 14, pustular, Autosomal recessive	910	207	66	339	0	744	0.642487	.	.	.	283604	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.108433	16764	154602	rs2515401	0.6460	0.6350	0.6359	0.6549	0.7967	0.6440	0.6431	0.7899	0.7872	0.7121	0.6981	0.6741	0.7292	0.6065	0.7411	0.6034	0.6506	0.7967	0.6525	0.6525	0.6494	0.6557	0.8018	0.6490	0.6476	0.7807	0.7721	0.7072	0.7566	0.6635	0.6876	0.7070	0.6292	0.7381	0.6008	0.6886	0.8018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.8	1517.02	1	chr2	113062899	.	T	C	1517.02	.	AC=24;AF=0.8;AN=30;DP=56;ExcessHet=0;FS=0;InbreedingCoeff=0.5615;MLEAC=28;MLEAF=0.933;MQ=60;QD=27.69;SOR=2.419	GT:AD:DP:GQ:PL	1/1:0,3:3:9:75,9,0	3	12	0	4
chr2	113133033	113133033	C	T	UTR3	IL1RN	NM_000577:c.*162C>T;NM_001318914:c.*162C>T;NM_173843:c.*162C>T;NM_173841:c.*162C>T;NM_001379360:c.*162C>T;NM_173842:c.*162C>T	.	.	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	103	1312	92	15	0	122	0.0444283	.	.	.	283664	Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis|Autoinflammatory_syndrome|not_provided	MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.01877	.	.	.	.	.	.	.	.	0.0056209	869	154602	rs4252041	0.0351	0.0448	0.0341	0.0359	0.0658	0.0346	0.0345	0.0575	0.0543	0.0081	0.0224	0.0245	0	0.0193	0.0658	0.0430	0.0364	0.0361	0.0269	0.0269	0.0284	0.0252	0.0413	0.0262	0.0259	0.0400	0.0395	0.0076	0.0011	0.0337	0.0253	0.0006	0.0115	0.0850	0.0413	0.0303	0.0304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	555.03	4	chr2	113133033	.	C	T	555.03	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.28;DP=122;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.1342;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=19.14;ReadPosRankSum=0;SOR=0.73	GT:AD:DP:GQ:PL	0/1:4,6:10:99:144,0,103	14	1	4	0
chr2	120984646	120984646	C	T	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon11:c.C1433T:p.T478M,GLI2:NM_001371271:exon12:c.C1859T:p.T620M,GLI2:NM_001374353:exon12:c.C1808T:p.T603M,GLI2:NM_005270:exon12:c.C1859T:p.T620M	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	0	1484	37	1	0	39	0.0129697	.	.	.	223606	Holoprosencephaly_9|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|not_specified|not_provided|Anophthalmia-microphthalmia_syndrome|Bardet-Biedl_syndrome	MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|MedGen:CN169374|MedGen:C3661900|MedGen:C5680330,Orphanet:98555|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	.	0.0008	0.00219649	0.0026	0.0004	0.0003	0.0001	0	0.0019	0.0045	0.0107	0.0023738	367	154602	rs142775128	0.0021	0.0021	0.0018	0.0024	0.0104	0.0020	0.0020	0.0098	0.0096	0.0001	0.0005	0.0037	5.038e-05	0.0002	0.0055	0.0016	0.0026	0.0104	0.0013	0.0013	0.0012	0.0014	0.0089	0.0011	0.0011	0.0068	0.0060	0.0004	0	0.0006	0.0035	0.0004	9.411e-05	0.0068	0.0016	0.0014	0.0089	0.122	0.27663	T	0.037	0.51737	D	0.832	0.46138	P	0.226	0.38054	B	0.515791	0.11796	N	0.806041	1	0.08975	N	0.69	0.16971	N	2.47	0.14783	T	-1.5	0.36586	N	0.185	0.20129	-1.0557	0.12855	T	0.031	0.13504	T	10	0.00654158	0.00148	T	.	.	.	0.062	0.17934	.	.	0.339440827056	0.33553	0.23877867945309053	0.23791	0.465526152677	0.45986	0.310651242733	0.12005	T	0.441684	0.78613	T	-0.588781	0.00170	T	-0.609125	0.12055	T	0.00664244789238777	0.00074	T	0.612939	0.23352	T	0.03308176	0.03456	0.04148887	0.04728	0.036132056	0.04387	0.037408102	0.03388	-4.641	0.32683	T	.	.	0.082	0.08948	B	.;.	.;.	1.907197	0.24225	16.32	0.92458925033073125	0.21885	0.20783	0.21167	N	AEFDBI	0.278556	0.39281	N	-0.546217494471762	0.20602	1.087282	-0.623952830292463	0.18879	1.010464	0.999553440065076	0.40362	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.9	3.08	0.34576	2.217000	0.42521	.	.	0.599000	0.40250	0.005000	0.17040	0.138000	0.23065	0.000000	0.00833	0.0:0.7701:0.1528:0.0771	9.809	0.39978	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.003788	0.02632	2297.33	34	chr2	120984646	.	C	T	2297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=769;ExcessHet=0;FS=3.201;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=-1.172;SOR=0.825	GT:AD:DP:GQ:PL	0/1:53,80:133:99:2311,0,1259	18	0	1	0
chr2	151546001	151546001	-	A	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282777	not_specified|Nemaline_myopathy_2|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2521	0.1709	0.2716	0.2475	0.2950	0.2447	0.2589	0.2849	0.0001921	5	26028	rs762865768	0.2760	0.2628	0.2762	0.2759	0.3185	0.2751	0.2747	0.3132	0.3111	0.2337	0.3066	0.2747	0.3185	0.2903	0.2933	0.2740	0.2796	0.2642	0.2606	0.2606	0.2567	0.2647	0.3671	0.2583	0.2574	0.3587	0.3552	0.1876	0.2989	0.3671	0.2638	0.3220	0.2881	0.2862	0.2731	0.2600	0.2294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	5687.97	23	chr2	151546001	.	T	TA	5687.97	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.343;DP=1231;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=-0.185;SOR=0.727	GT:AD:DP:GQ:PL	0/1:16,9:41:13:175,0,305	3	0	16	0
chr2	151569306	151569306	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon82:c.G12358A:p.V4120I,NEB:NM_001164507:exon110:c.G17497A:p.V5833I,NEB:NM_001164508:exon110:c.G17497A:p.V5833I,NEB:NM_001271208:exon110:c.G17497A:p.V5833I	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1496	26	0	0	26	0.00861498	.	.	.	246899	not_provided|not_specified|Nemaline_myopathy_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.105	0.0103385765401	0.0016	0.00139776	0.0023	0.0006	0.0013	0.0001	0.0003	0.0021	0.0033	0.0065	0.0021733	336	154602	rs149881695	0.0029	0.0029	0.0028	0.0031	0.0059	0.0028	0.0028	0.0055	0.0053	0.0007	0.0013	0.0026	2.52e-05	0.0003	0.0043	0.0030	0.0038	0.0059	0.0020	0.0020	0.0022	0.0019	0.0056	0.0018	0.0018	0.0040	0.0034	0.0006	0	0.0035	0.0023	0.0002	0.0008	0	0.0027	0.0014	0.0056	0.064	0.36509	T	0.15	0.42614	T	0.539	0.37887	P	0.089	0.29769	B	0.000001	0.62929	D	0.056646	0.99658	0.43291	D	1.295	0.32453	L	3.2	0.08460	T	-0.51	0.18042	N	0.207	0.22998	-1.1350	0.01557	T	0.042	0.17952	T	10	0.0064363778	0.00146	T	0.010339	0.26763	T	0.105	0.29889	.	.	0.438593652726	0.43481	0.559535376864877	0.55880	0.0936402175111	0.10581	0.454801738262	0.32600	T	0.012825	0.46095	T	-0.487416	0.00671	T	-0.470859	0.25423	T	0.0124948242847624	0.00206	T	0.840916	0.55818	T	0.10451197	0.24706	0.0737715	0.16066	0.123301886	0.28955	0.09899753	0.23622	-3.052	0.10752	T	.	.	0.098	0.16187	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.639750	0.51603	23.1	0.99699367962171559	0.80522	0.88989	0.49193	D	AEFDGBHCI	0.343142	0.43906	N	0.272465036355448	0.54758	3.640623	0.355315102796979	0.58829	4.055963	0.999995088601413	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	6.08	6.08	0.98982	2.547000	0.45446	.	.	0.599000	0.40250	0.982000	0.35529	1.000000	0.68203	0.489000	0.28769	0.0:0.9297:0.0:0.0703	14.783	0.69408	903	0.23940	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.015244	0.007576	0.02632	2483.33	43	chr2	151569306	.	C	T	2483.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=846;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-1.009;SOR=0.681	GT:AD:DP:GQ:PL	0/1:82,94:176:99:2497,0,1785	18	0	1	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1072	24	1	0	26	0.0119816	1.0000	0.938	YES	516567	Immunodeficiency_95|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	5487.41	34	chr2	162268086	.	C	T	5487.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.4;DP=842;ExcessHet=0.0101;FS=6.684;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=19.25;ReadPosRankSum=-0.309;SOR=1.099	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1363,0,1463	16	1	2	0
chr2	169294718	169294720	AAA	-	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	283582	not_provided|not_specified|Donnai-Barrow_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0909	0.0720	0.0505	0.0735	0.1765	0.0822	0.1111	0.1048	0.0002305	6	26028	rs759076090	0.1851	0.1738	0.1848	0.1854	0.2132	0.1842	0.1839	0.2089	0.2071	0.1690	0.1813	0.1909	0.2132	0.1973	0.1874	0.1829	0.1955	0.1769	0.0022	0.0046	0.0019	0.0024	0.0064	0.0019	0.0018	0.0042	0.0035	0.0012	0	0.0010	0.0060	0.0022	0.0020	0.0046	0.0024	0.0029	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	14341.5	13	chr2	169294717	.	TAAA	T	14341.5	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.42;DP=1669;ExcessHet=0;FS=2.109;InbreedingCoeff=nan;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=30.19;ReadPosRankSum=0.704;SOR=1.372	GT:AD:DP:GQ:PL	0/1:2,14:47:25:874,124,187	7	0	12	0
chr2	171448665	171448665	-	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	295	1061	129	35	2	201	0.0857389	.	.	.	1153880	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1900	0.1440	0.2965	0.1542	0.1838	0.1738	0.1942	0.2313	0.0121408	316	26028	rs139655160	0.1523	0.1653	0.1512	0.1534	0.2241	0.1517	0.1515	0.2196	0.2178	0.1225	0.2241	0.1819	0.1751	0.1501	0.1619	0.1464	0.1560	0.1975	0.1961	0.1983	0.1956	0.1968	0.2795	0.1943	0.1935	0.2670	0.2620	0.1627	0.1681	0.2502	0.2551	0.1836	0.2003	0.2363	0.1955	0.2145	0.2795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	8839.14	16	chr2	171448665	.	C	CT	8839.14	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.098;DP=746;ExcessHet=0.6984;FS=5.396;InbreedingCoeff=0.0952;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=0.17;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,22:49:99:0|1:171448665_C_CT:793,0,1027:171448665	8	3	8	0
chr2	171448667	171448667	C	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	305	1005	21	3	188	215	0.0132548	.	.	.	189063	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.207069	0.2822	0.2104	0.4319	0.2364	0.2448	0.2580	0.2773	0.3437	0.0139778	2161	154602	rs192861143	0.2297	0.1974	0.2282	0.2312	0.3467	0.2289	0.2286	0.3409	0.3385	0.1856	0.3467	0.2716	0.2622	0.2223	0.2208	0.2204	0.2344	0.2999	0.2054	0.2045	0.2034	0.2075	0.2886	0.2034	0.2026	0.2757	0.2706	0.1695	0.1726	0.2733	0.2593	0.1987	0.2244	0.2396	0.2008	0.2248	0.2886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	10652.2	16	chr2	171448667	.	C	T	10652.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.655;DP=763;ExcessHet=0.6984;FS=3.571;InbreedingCoeff=0.0952;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=22.33;ReadPosRankSum=0.719;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,22:49:99:0|1:171448665_C_CT:793,0,1027:171448665	8	3	8	0
chr2	171458135	171458135	T	-	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	50	730	457	105	180	847	0.313587	.	.	.	1258517	not_provided|Woodhouse-Sakati_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.227835	.	.	.	.	.	.	.	.	0.0401491	1045	26028	rs58636477	0.2283	0.2354	0.2253	0.2312	0.3807	0.2275	0.2272	0.3754	0.3733	0.2227	0.3807	0.2915	0.2775	0.2308	0.2404	0.2103	0.2387	0.3067	0.2115	0.2106	0.2096	0.2136	0.2856	0.2096	0.2088	0.2729	0.2678	0.1932	0.1718	0.2748	0.2573	0.1950	0.2276	0.2413	0.1998	0.2246	0.2856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	11519.8	34	chr2	171458134	.	AT	A	11519.8	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.019;DP=1232;ExcessHet=6.1876;FS=1.363;InbreedingCoeff=-0.2955;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.039;SOR=0.548	GT:AD:DP:GQ:PL	0/1:24,37:61:99:861,0,474	7	2	10	0
chr2	172489630	172489630	A	G	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_000210:exon20:c.A2651G:p.Q884R,ITGA6:NM_001079818:exon20:c.A2651G:p.Q884R,ITGA6:NM_001316306:exon20:c.A2294G:p.Q765R	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	283699	Junctional_epidermolysis_bullosa_with_pyloric_atresia|Epidermolysis_bullosa,_junctional_6,_with_pyloric_atresia|ITGA6-related_disorder|not_provided	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403|MONDO:MONDO:0859233,MedGen:C5676957,OMIM:619817|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.063	0.0116222495212	0.0006	0.000399361	0.0009	0.0002	0.0010	0	0	0.0010	0.0011	0.0012	0.0007891	122	154602	rs61757096	0.0006	0.0006	0.0006	0.0006	0.0035	0.0006	0.0005	0.0023	0.0019	0.0004	0.0009	0.0039	2.52e-05	0	0.0035	0.0005	0.0010	0.0010	0.0007	0.0007	0.0007	0.0008	0.0019	0.0006	0.0006	0.0014	0.0012	0.0001	0	0.0019	0.0029	0	9.411e-05	0.0102	0.0008	0.0014	0.0006	1.0	0.00964	T	0.546	0.09555	T	0.0	0.02946	B	0.002	0.06944	B	0.328170	0.04114	N	1.343860	1	0.08975	N	0.205	0.09354	N	0.8	0.48769	T	0.2	0.06612	N	0.054	0.05799	-1.0412	0.16951	T	0.076	0.30366	T	10	0.0053096414	0.00116	T	0.011622	0.29427	T	0.063	0.18251	.	.	0.350524144436	0.34660	0.49612528534616235	0.49533	0.431060661898	0.43325	0.221626952291	0.01406	T	0.049281	0.28261	T	-0.627636	0.00099	T	-0.724773	0.04568	T	0.00384265592605782	0.00041	T	0.723828	0.35200	T	0.019697199	0.00506	0.031792473	0.01818	0.019697199	0.00506	0.031792473	0.01818	-5.632	0.45579	T	.	.	0.071	0.04238	B	.;.;.;.;.	.;.;.;.;.	0.781819	0.11518	8.118	0.62217049621971721	0.06906	0.13839	0.18080	N	AEFBI	0.119270	0.23286	N	-1.08669563900196	0.06887	0.3183668	-1.06364687253851	0.08425	0.414185	0.731888225338986	0.23060	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.36	0.092	0.13781	0.146000	0.16000	0.147000	0.15245	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.600000	0.31387	0.3559:0.5067:0.1373:0.0	8.073	0.29863	764	0.49969	.;.;Integrin alpha-2;.;.	.	.	.	.	.	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	0.004028	0.005051	0.004076	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	768.33	35	chr2	172489630	.	A	G	768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.105;DP=676;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.342;SOR=1.032	GT:AD:DP:GQ:PL	0/1:29,29:58:99:782,0,797	18	0	1	0
chr2	178431939	178431939	T	C	ncRNA_intronic	CHROMR	.	.	.	.	60	1169	290	3	0	296	0.112377	.	.	.	283886	Dystonia_16|not_provided	MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1316	668.83	7	chr2	178431939	.	T	C	668.83	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.286;DP=155;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1811;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.169;SOR=0.693	GT:AD:DP:GQ:PL	0/1:9,5:14:99:163,0,295	14	0	5	0
chr2	178460454	178460454	T	C	intronic	PJVK	.	.	.	.	0	1499	20	3	0	26	0.00859788	0.0001	0.002	.	172799	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	.	.	.	.	.	.	.	.	.	.	0.0009	0.00399361	0.0034	0.0002	0.0009	0.0001	0	0.0011	0.0011	0.0193	0.0028266	437	154602	rs185220846	0.0016	0.0016	0.0011	0.0022	0.0182	0.0016	0.0016	0.0174	0.0171	0.0002	0.0006	0.0015	0.0001	0	0.0033	0.0005	0.0024	0.0182	0.0015	0.0015	0.0013	0.0016	0.0224	0.0013	0.0012	0.0190	0.0177	0.0002	0	0.0016	0.0012	0	0	0	0.0011	0.0014	0.0224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1026.33	35	chr2	178460454	.	T	C	1026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.077;DP=706;ExcessHet=0;FS=3.438;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-1.516;SOR=0.33	GT:AD:DP:GQ:PL	0/1:40,40:80:99:1040,0,1099	18	0	1	0
chr2	178534020	178534020	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.A75400G:p.I25134V,TTN:NM_133432:exon187:c.A75775G:p.I25259V,TTN:NM_133437:exon187:c.A75976G:p.I25326V,TTN:NM_133378:exon307:c.A94891G:p.I31631V,TTN:NM_001256850:exon308:c.A97672G:p.I32558V,TTN:NM_001267550:exon358:c.A102595G:p.I34199V	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	1496	25	0	0	25	0.00828638	.	.	.	56816	Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|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:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.126	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0017	0.0011	0.0233	0.0036481	564	154602	rs56347248	0.0022	0.0022	0.0016	0.0028	0.0211	0.0021	0.0021	0.0203	0.0200	0.0003	0.0007	0.0008	5.038e-05	7.493e-05	0.0043	0.0010	0.0027	0.0211	0.0017	0.0018	0.0015	0.0020	0.0238	0.0016	0.0015	0.0203	0.0190	0.0002	0	0.0016	0.0009	0	0	0	0.0016	0.0014	0.0238	0.52	0.07259	T	.	.	.	0.437	0.35811	B	0.235	0.38432	B	.	.	.	.	0.976515	0.39283	D	-0.115	0.04602	N	-0.06	0.63568	T	-0.59	0.17834	N	0.044	0.20793	-0.7920	0.55612	T	0.135	0.44933	T	9	0.003139168	0.00052	T	.	.	.	0.126	0.34673	.	.	0.494906320408	0.49125	.	.	0.126400502665	0.14248	0.424147129059	0.28407	T	.	.	.	-0.430651	0.01469	T	-0.374457	0.36368	T	0.0279211896563883	0.01677	T	0.818018	0.47860	T	.	.	.	.	.	.	.	.	-3.49	0.16292	T	.	.	0.131	0.28174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.161078	0.27534	17.49	0.8587454016514926	0.16167	0.93700	0.58941	D	AEFBI	.	.	.	0.0801936018471561	0.45539	2.808774	0.257360012518291	0.53068	3.477797	0.999984022272872	0.51787	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.59	5.59	0.84677	5.019000	0.63828	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1352:0.0:0.0:0.8648	11.421	0.49223	369	0.84396	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	2751.33	33	chr2	178534020	.	T	C	2751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.903;DP=1975;ExcessHet=0;FS=2.138;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.068;SOR=0.861	GT:AD:DP:GQ:PL	0/1:132,117:249:99:2765,0,3569	18	0	1	0
chr2	178534724	178534724	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G74696A:p.R24899H,TTN:NM_133432:exon187:c.G75071A:p.R25024H,TTN:NM_133437:exon187:c.G75272A:p.R25091H,TTN:NM_133378:exon307:c.G94187A:p.R31396H,TTN:NM_001256850:exon308:c.G96968A:p.R32323H,TTN:NM_001267550:exon358:c.G101891A:p.R33964H	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	1494	27	0	0	27	0.00895522	.	.	.	56807	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|not_specified|Primary_dilated_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype	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|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|MedGen:CN169374|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|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.089	.	0.0014	0.00599042	0.0044	0.0002	0.0011	0	0	0.0018	0.0022	0.0238	0.0037516	580	154602	rs55669553	0.0022	0.0022	0.0016	0.0029	0.0214	0.0022	0.0022	0.0206	0.0203	0.0004	0.0007	0.0008	7.558e-05	7.493e-05	0.0049	0.0010	0.0027	0.0214	0.0018	0.0018	0.0015	0.0021	0.0244	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0244	0.0	0.91255	D	.	.	.	0.105	0.25993	B	0.019	0.18783	B	.	.	.	.	0.999996	0.58761	D	2.965	0.85198	M	0.72	0.50976	T	-3.49	0.69714	D	0.24	0.37509	-0.9165	0.46024	T	0.142	0.46257	T	9	0.0036860704	0.00068	T	.	.	.	0.089	0.25827	.	.	0.202086224978	0.19791	.	.	0.109101829379	0.12303	0.489401757717	0.37355	T	.	.	.	-0.369326	0.03628	T	-0.286368	0.46149	T	0.110552963806189	0.13480	T	0.870213	0.57716	D	.	.	.	.	.	.	.	.	-5.952	0.45876	T	.	.	0.507	0.64884	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.452042	0.31577	18.78	0.92742931441369314	0.22247	0.97406	0.74547	D	AEFBI	.	.	.	0.114307564429706	0.47130	2.943047	0.267253383658903	0.53636	3.531681	0.999999999763111	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	6.02	5.14	0.70008	5.062000	0.64156	.	.	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9341:0.0:0.0659	15.569	0.76062	373	0.84140	.;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.05263	4110.83	33	chr2	178534724	.	C	T	4110.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.67;DP=1847;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=1.53;SOR=0.668	GT:AD:DP:GQ:PL	0/1:82,72:154:99:2086,0,2106	17	0	2	0
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	not_provided|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Limb-girdle_muscular_dystrophy,_recessive|Hypertrophic_cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239352|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	1315.81	90	chr2	178535858	.	GA	G	1315.81	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.521;DP=2933;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.587;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=-0.227;SOR=0.718	GT:AD:DP:GQ:PL	0/1:134,19:174:18:18,0,3070	8	0	11	0
chr2	178537377	178537377	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon183:c.G72635A:p.G24212E,TTN:NM_133432:exon184:c.G73010A:p.G24337E,TTN:NM_133437:exon184:c.G73211A:p.G24404E,TTN:NM_133378:exon304:c.G92126A:p.G30709E,TTN:NM_001256850:exon305:c.G94907A:p.G31636E,TTN:NM_001267550:exon355:c.G99830A:p.G33277E	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	1518	3	0	0	3	0.000987167	.	.	.	56784	Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|TTN-related_disorder|Limb-girdle_muscular_dystrophy,_recessive|not_specified	MedGen:CN239310|MedGen:CN230736|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|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|.|MedGen:CN239352|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.797	.	.	0.00179712	0.0012	0	0.0002	0	0	1.778e-05	0	0.0107	0.0009314	144	154602	rs397517781	0.0005	0.0005	0.0003	0.0007	0.0079	0.0004	0.0004	0.0074	0.0072	0	2.317e-05	0	0	0	0.0002	2.726e-06	0.0003	0.0079	0.0002	0.0002	9.001e-05	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0	0	0	0	0.0005	0.0077	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.905	0.84014	M	-0.72	0.72994	T	-6.07	0.93404	D	0.639	0.91505	0.340	0.88184	D	0.622	0.86680	D	9	0.013269186	0.00282	T	.	.	.	0.797	0.93346	0.877	0.96683	0.787362342877	0.78539	.	.	0.526218639335	0.50253	0.689847886562	0.65685	T	.	.	.	-0.120418	0.33056	T	0.058537	0.74148	D	0.217123034449683	0.21319	T	0.90231	0.66926	D	.	.	.	.	.	.	.	.	-9.473	0.70691	D	.	.	0.976	0.90447	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.777519	0.36477	20.3	0.92758354521796416	0.22267	0.98614	0.84715	D	AEFBI	0.911992	0.87201	D	0.949152951046742	0.93950	12.39341	0.903860341396854	0.95739	13.91775	1.0	0.98316	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.79	5.79	0.91751	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:1.0:0.0:0.0	20.036	0.97557	383	0.83590	.;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1655.33	37	chr2	178537377	.	C	T	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.454;DP=752;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.63;SOR=0.615	GT:AD:DP:GQ:PL	0/1:69,59:128:99:1669,0,1989	18	0	1	0
chr2	178545939	178545939	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon171:c.C68102T:p.S22701F,TTN:NM_133432:exon172:c.C68477T:p.S22826F,TTN:NM_133437:exon172:c.C68678T:p.S22893F,TTN:NM_133378:exon292:c.C87593T:p.S29198F,TTN:NM_001256850:exon293:c.C90374T:p.S30125F,TTN:NM_001267550:exon343:c.C95297T:p.S31766F	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	1496	26	0	0	26	0.00861498	.	.	YES	56719	Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Primary_dilated_cardiomyopathy|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|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|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.466	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0233	0.003661	566	154602	rs191484894	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.49e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0015	0.0021	0.0238	0.0016	0.0015	0.0203	0.0190	0.0002	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0238	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999999	0.58761	D	1.585	0.39878	L	0.2	0.60111	T	-4.0	0.80767	D	0.606	0.84817	-0.1261	0.79492	T	0.442	0.77965	T	9	0.011009574	0.00242	T	.	.	.	0.466	0.76156	.	.	0.724109648524	0.72167	.	.	0.484728417222	0.47373	0.585230708122	0.50822	T	.	.	.	-0.30576	0.08128	T	-0.19506	0.55114	T	0.0716982437541968	0.08888	T	0.914409	0.69449	D	.	.	.	.	.	.	.	.	-8.326	0.63271	D	.	.	0.346	0.56324	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.304615	0.45380	22.1	0.97250835364099031	0.33043	0.98589	0.84429	D	AEFBI	0.886007	0.81703	D	0.843193967595034	0.88718	9.684574	0.802168168336609	0.89944	10.18802	0.99999999999998	0.74766	0.475973	0.10046	0	0.379588	0.06130	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	5.82	5.82	0.92740	8.055000	0.89243	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:0.0:1.0:0.0	20.109	0.97902	476	0.77720	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	2302.33	44	chr2	178545939	.	G	A	2302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=811;ExcessHet=0;FS=5.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.392;SOR=0.822	GT:AD:DP:GQ:PL	0/1:80,83:163:99:2316,0,2112	18	0	1	0
chr2	178550073	178550073	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon165:c.G64570A:p.A21524T,TTN:NM_133432:exon166:c.G64945A:p.A21649T,TTN:NM_133437:exon166:c.G65146A:p.A21716T,TTN:NM_133378:exon286:c.G84061A:p.A28021T,TTN:NM_001256850:exon287:c.G86842A:p.A28948T,TTN:NM_001267550:exon337:c.G91765A:p.A30589T	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	1495	26	0	0	26	0.00862069	.	.	.	56678	Cardiomyopathy|Tibial_muscular_dystrophy|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|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:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.416	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0233	0.0036675	567	154602	rs148617456	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.491e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0015	0.0021	0.0241	0.0016	0.0015	0.0205	0.0192	0.0002	0	0.0018	0.0009	0	0	0	0.0016	0.0019	0.0241	0.041	0.41915	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	1.15	0.29295	L	-0.5	0.70480	T	-2.78	0.66085	D	0.487	0.67650	-0.0690	0.80802	T	0.488	0.80515	T	9	0.0062122345	0.00140	T	.	.	.	0.416	0.72631	.	.	0.52628473709	0.52276	.	.	0.457598942377	0.45392	0.550748407841	0.45962	T	.	.	.	-0.333518	0.05850	T	-0.234932	0.51292	T	0.046113912415414	0.04804	T	0.887511	0.61533	D	.	.	.	.	.	.	.	.	-5.9	0.45435	T	.	.	0.140	0.30713	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.063934	0.41155	21.3	0.98470008578502022	0.41849	0.97160	0.73043	D	AEFBI	0.707248	0.66204	D	0.716954307711086	0.80744	7.362555	0.730721168650621	0.84709	8.368916	1.0	0.98316	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.74	5.74	0.90070	4.921000	0.63096	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.298	0.98571	531	0.73574	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006546	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.026515	0.02632	1972.33	44	chr2	178550073	.	C	T	1972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.506;DP=901;ExcessHet=0;FS=3.471;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.143;SOR=0.648	GT:AD:DP:GQ:PL	0/1:104,73:177:99:1986,0,2901	18	0	1	0
chr2	178552074	178552074	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon163:c.T63631G:p.C21211G,TTN:NM_133432:exon164:c.T64006G:p.C21336G,TTN:NM_133437:exon164:c.T64207G:p.C21403G,TTN:NM_133378:exon284:c.T83122G:p.C27708G,TTN:NM_001256850:exon285:c.T85903G:p.C28635G,TTN:NM_001267550:exon335:c.T90826G:p.C30276G	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	1495	24	2	0	28	0.00927767	.	.	YES	56665	Cardiomyopathy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Tibial_muscular_dystrophy|not_provided|TTN-related_myopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|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:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0100175,MedGen:CN294812|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.478	.	0.0014	0.00599042	0.0041	0.0002	0.0011	0	0	0.0017	0.0011	0.0226	0.0035705	552	154602	rs150430592	0.0021	0.0021	0.0016	0.0027	0.0203	0.0021	0.0021	0.0195	0.0192	0.0003	0.0007	0.0008	5.04e-05	7.493e-05	0.0042	0.0010	0.0027	0.0203	0.0017	0.0017	0.0015	0.0020	0.0234	0.0016	0.0015	0.0199	0.0186	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0234	0.023	0.49613	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	0.315	0.10303	N	0.46	0.56281	T	-7.8	0.95924	D	0.536	0.89020	-0.5797	0.65629	T	0.248	0.61693	T	9	0.008630365	0.00196	T	.	.	.	0.478	0.76946	.	.	0.805810659861	0.80399	.	.	0.515532960109	0.49461	0.735550642014	0.72319	T	.	.	.	-0.259447	0.12965	T	-0.129197	0.61040	T	0.153546478578844	0.17382	T	0.89721	0.67223	D	.	.	.	.	.	.	.	.	-1.482	0.01728	T	.	.	0.482	0.63750	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.871585	0.37970	20.6	0.94809500877476183	0.25568	0.99059	0.90625	D	AEFBI	0.964256	0.98634	D	0.719182480464528	0.80888	7.395654	0.757896083038793	0.86746	8.988923	0.999999995369245	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	9.325000	0.96006	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	16.075	0.80770	538	0.73119	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.018939	0.02632	2752.33	33	chr2	178552074	.	A	C	2752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=902;ExcessHet=0;FS=0.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.515;SOR=0.646	GT:AD:DP:GQ:PL	0/1:146,99:245:99:2766,0,4100	18	0	1	0
chr2	178552364	178552364	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon163:c.G63341A:p.R21114H,TTN:NM_133432:exon164:c.G63716A:p.R21239H,TTN:NM_133437:exon164:c.G63917A:p.R21306H,TTN:NM_133378:exon284:c.G82832A:p.R27611H,TTN:NM_001256850:exon285:c.G85613A:p.R28538H,TTN:NM_001267550:exon335:c.G90536A:p.R30179H	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	1496	26	0	0	26	0.00861498	.	.	.	56661	Cardiomyopathy|Primary_dilated_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|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:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.403	.	0.0015	0.0061901	0.0041	0.0002	0.0011	0.0004	0	0.0018	0.0012	0.0265	0.0036481	564	154602	rs149567378	0.0022	0.0023	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0199	0.0004	0.0008	0.0008	0.0002	5.702e-05	0.0044	0.0011	0.0030	0.0210	0.0019	0.0019	0.0016	0.0021	0.0243	0.0017	0.0016	0.0207	0.0194	0.0002	0	0.0018	0.0009	0.0002	0	0	0.0017	0.0019	0.0243	0.011	0.55530	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	1.565	0.39561	L	-0.33	0.68329	T	-3.4	0.71397	D	0.405	0.67995	-0.2039	0.77569	T	0.431	0.77284	T	9	0.006216377	0.00140	T	.	.	.	0.403	0.71636	.	.	0.366277470483	0.36239	.	.	0.515550123524	0.49465	0.626902043819	0.56706	T	.	.	.	-0.330574	0.06068	T	-0.230704	0.51704	T	0.0440367366895231	0.04426	T	0.949405	0.82942	D	.	.	.	.	.	.	.	.	-3.913	0.22497	T	.	.	0.107	0.20038	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.866965	0.37901	20.6	0.92786797022447076	0.22304	0.97433	0.74719	D	AEFBI	0.830258	0.74901	D	0.710948418442647	0.80351	7.274923	0.713889188448926	0.83433	8.02034	0.999999999999992	0.74766	0.554377	0.28877	0	0.446627	0.06534	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.76	5.76	0.90726	6.170000	0.71810	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	20.324	0.98691	535	0.73288	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.008772	0.000000	0.000000	0.009146	0.022727	0.02632	1802.33	33	chr2	178552364	.	C	T	1802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=806;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.52;SOR=0.815	GT:AD:DP:GQ:PL	0/1:90,61:151:99:1816,0,2600	18	0	1	0
chr2	178563572	178563572	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.C55365A:p.N18455K,TTN:NM_133432:exon155:c.C55740A:p.N18580K,TTN:NM_133437:exon155:c.C55941A:p.N18647K,TTN:NM_133378:exon275:c.C74856A:p.N24952K,TTN:NM_001256850:exon276:c.C77637A:p.N25879K,TTN:NM_001267550:exon326:c.C82560A:p.N27520K	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	1497	25	0	0	25	0.00828089	.	.	.	56579	not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|MedGen:C3661900|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|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.417	.	0.0014	0.00579073	0.0042	0.0002	0.0011	0	0	0.0017	0.0011	0.0225	0.003564	551	154602	rs56264840	0.0022	0.0022	0.0016	0.0027	0.0202	0.0021	0.0021	0.0194	0.0191	0.0003	0.0007	0.0008	5.04e-05	7.49e-05	0.0043	0.0010	0.0027	0.0202	0.0017	0.0017	0.0015	0.0020	0.0232	0.0016	0.0015	0.0197	0.0184	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0232	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999825	0.50225	D	2.485	0.72352	M	0.35	0.58029	T	-4.57	0.79659	D	0.379	0.60495	-0.4672	0.69823	T	0.323	0.69212	T	9	0.0070592165	0.00160	T	.	.	.	0.417	0.72705	0.578	0.70347	0.250039746154	0.24611	.	.	0.496214373149	0.48140	0.663874268532	0.61963	T	.	.	.	-0.435452	0.01376	T	-0.382017	0.35485	T	0.133976625754777	0.15744	T	0.934307	0.75413	D	.	.	.	.	.	.	.	.	-10.339	0.75916	D	.	.	0.865	0.80585	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.816132	0.23080	15.88	0.9232112540969486	0.21715	0.94092	0.60088	D	AEFBI	0.724372	0.67370	D	0.448065803602407	0.64093	4.656293	0.379467926255422	0.60300	4.216094	0.00891551601152706	0.11764	0.553676	0.25195	0	0.546412	0.12157	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.97	2.79	0.31792	3.299000	0.51533	.	.	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.4327:0.0:0.5673:0.0	7.167	0.24872	443	0.79878	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007553	0.000000	0.002717	0.011696	0.000000	0.000000	0.009146	0.026515	0.02632	2833.33	36	chr2	178563572	.	G	T	2833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.73;DP=1942;ExcessHet=0;FS=0.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-1.665;SOR=0.715	GT:AD:DP:GQ:PL	0/1:91,94:185:99:2847,0,2453	18	0	1	0
chr2	178584852	178584852	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon138:c.G37594A:p.V12532M,TTN:NM_133432:exon139:c.G37969A:p.V12657M,TTN:NM_133437:exon139:c.G38170A:p.V12724M,TTN:NM_133378:exon259:c.G57085A:p.V19029M,TTN:NM_001256850:exon260:c.G59866A:p.V19956M,TTN:NM_001267550:exon310:c.G64789A:p.V21597M	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	1495	26	0	0	26	0.00862069	.	.	.	56378	Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Cardiovascular_phenotype|Primary_dilated_cardiomyopathy|Cardiomyopathy|not_specified|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|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|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.518	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0.0002	0	0.0017	0.0011	0.0232	0.003661	566	154602	rs150661999	0.0022	0.0022	0.0016	0.0028	0.0210	0.0022	0.0021	0.0202	0.0199	0.0004	0.0007	0.0008	0.0002	7.492e-05	0.0043	0.0010	0.0030	0.0210	0.0018	0.0018	0.0016	0.0020	0.0240	0.0016	0.0015	0.0205	0.0191	0.0002	0	0.0018	0.0009	0.0002	0	0	0.0016	0.0014	0.0240	0.002	0.72154	D	.	.	.	0.999	0.77913	D	0.989	0.78396	D	.	.	.	.	0.999999	0.81001	D	3.11	0.87757	M	-0.35	0.68616	T	-2.23	0.50666	N	0.456	0.64223	0.409	0.89236	D	0.629	0.86960	D	9	0.008097768	0.00184	T	.	.	.	0.518	0.79461	.	.	0.720176921917	0.71771	.	.	0.455381697114	0.45213	0.577912807465	0.49792	T	.	.	.	-0.32077	0.06834	T	-0.216621	0.53063	T	0.0811897725999269	0.10139	T	0.956104	0.83996	D	.	.	.	.	.	.	.	.	-9.665	0.72712	D	.	.	0.691	0.72593	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.813963	0.37048	20.4	0.97582930358672293	0.34747	0.95696	0.65767	D	AEFGBI	0.645504	0.62137	D	0.926986148134166	0.93019	11.76993	0.866370983973504	0.93936	12.38489	0.999999998610919	0.74766	0.525926	0.21836	0	0.546412	0.12157	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	3.342000	0.51877	.	.	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.557	0.99307	415	0.81806	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005539	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.018939	0.02632	2643.33	35	chr2	178584852	.	C	T	2643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.46;DP=890;ExcessHet=0;FS=4.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.475;SOR=0.565	GT:AD:DP:GQ:PL	0/1:95,99:194:99:2657,0,2516	18	0	1	0
chr2	178612802	178612802	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon93:c.G22724C:p.S7575T,TTN:NM_133432:exon94:c.G23099C:p.S7700T,TTN:NM_133437:exon94:c.G23300C:p.S7767T,TTN:NM_133378:exon214:c.G42215C:p.S14072T,TTN:NM_001256850:exon215:c.G44996C:p.S14999T,TTN:NM_001267550:exon265:c.G49919C:p.S16640T	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	1498	23	0	0	23	0.00761842	.	.	.	56201	Primary_dilated_cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	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:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.233	.	0.0015	0.00599042	0.0045	0.0002	0.0012	0.0002	0	0.0018	0.0011	0.0240	0.0037192	575	154602	rs55663050	0.0022	0.0022	0.0016	0.0029	0.0211	0.0022	0.0021	0.0203	0.0199	0.0004	0.0007	0.0008	0.0002	7.498e-05	0.0043	0.0011	0.0030	0.0211	0.0018	0.0018	0.0016	0.0021	0.0245	0.0016	0.0016	0.0209	0.0196	0.0002	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0245	0.197	0.20607	T	.	.	.	0.997	0.70673	D	0.98	0.74843	D	.	.	.	.	0.999998	0.58761	D	1.295	0.32453	L	-0.35	0.68892	T	-2.19	0.51157	N	0.32	0.53445	-0.1546	0.78803	T	0.443	0.78033	T	9	0.0046233535	0.00096	T	.	.	.	0.233	0.53499	.	.	0.378498632473	0.37457	.	.	0.43613436949	0.43717	0.786140263081	0.79856	T	.	.	.	-0.372229	0.03483	T	-0.290538	0.45718	T	0.048630500485067	0.05257	T	0.822018	0.48145	T	.	.	.	.	.	.	.	.	-2.304	0.04577	T	.	.	0.157	0.34819	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.106696	0.41893	21.4	0.91567465207823096	0.20846	0.98825	0.87349	D	AEFBI	0.947774	0.95869	D	0.782204565675657	0.84981	8.44205	0.790845855814436	0.89147	9.85807	0.999999999973674	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.71	5.71	0.89031	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	19.85	0.96733	413	0.81939	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	1055.33	34	chr2	178612802	.	C	G	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.528;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-0.55;SOR=0.688	GT:AD:DP:GQ:PL	0/1:78,42:120:99:1069,0,2206	18	0	1	0
chr2	178617806	178617806	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon81:c.C20350A:p.P6784T,TTN:NM_133432:exon82:c.C20725A:p.P6909T,TTN:NM_133437:exon82:c.C20926A:p.P6976T,TTN:NM_133378:exon202:c.C39841A:p.P13281T,TTN:NM_001256850:exon203:c.C42622A:p.P14208T,TTN:NM_001267550:exon253:c.C47545A:p.P15849T	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	1495	26	0	0	26	0.00862069	.	.	.	56178	Cardiomyopathy|not_specified|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|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:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.152	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0233	0.0036804	569	154602	rs146181477	0.0022	0.0022	0.0016	0.0028	0.0211	0.0022	0.0021	0.0203	0.0200	0.0003	0.0007	0.0008	5.056e-05	7.493e-05	0.0043	0.0011	0.0027	0.0211	0.0018	0.0018	0.0015	0.0020	0.0243	0.0016	0.0015	0.0207	0.0193	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0243	0.512	0.07449	T	.	.	.	0.255	0.31319	B	0.071	0.27960	B	.	.	.	.	0.814352	0.30443	N	1.735	0.44892	L	0.74	0.50459	T	-3.86	0.75058	D	0.332	0.41162	-0.8910	0.48846	T	0.128	0.43482	T	9	0.004316628	0.00087	T	.	.	.	0.152	0.39956	.	.	0.227934060464	0.22382	.	.	0.106357007443	0.12022	0.341280579567	0.16630	T	.	.	.	-0.478698	0.00753	T	-0.443473	0.28420	T	0.0223469174444407	0.00947	T	0.905909	0.66829	D	.	.	.	.	.	.	.	.	-5.205	0.38992	T	.	.	0.097	0.15832	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.764698	0.36273	20.2	0.89396471440767089	0.18761	0.95196	0.63793	D	AEFBI	0.624755	0.60821	D	0.183013412871647	0.50385	3.228884	0.349756529587991	0.58493	4.02008	0.999987839813543	0.51787	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.54	5.54	0.82907	3.839000	0.55539	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.841	0.96687	426	0.81110	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	1955.33	34	chr2	178617806	.	G	T	1955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.031;DP=798;ExcessHet=0;FS=2.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.062;SOR=0.957	GT:AD:DP:GQ:PL	0/1:88,74:162:99:1969,0,2452	18	0	1	0
chr2	178659026	178659026	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon155:c.C31720T:p.P10574S,TTN:NM_001256850:exon156:c.C34501T:p.P11501S,TTN:NM_001267550:exon182:c.C37432T:p.P12478S	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	233	1271	16	2	0	20	0.0078064	.	.	.	56080	Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|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:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.131	0.0164089182367	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs200992277	0.0027	0.0022	0.0019	0.0034	0.0214	0.0026	0.0025	0.0204	0.0200	0.0004	0.0009	0.0009	0.0002	6.625e-05	0.0046	0.0014	0.0029	0.0214	0.0022	0.0019	0.0018	0.0026	0.0313	0.0020	0.0019	0.0261	0.0242	0.0002	0	0.0024	0.0011	0	0	0	0.0021	0.0022	0.0313	0.04	0.42199	D	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999912	0.51042	D	.	.	.	-0.61	0.71779	T	-3.52	0.68412	D	0.182	0.22357	-0.6420	0.63060	T	0.242	0.61012	T	9	0.0039824545	0.00077	T	0.016409	0.37653	T	0.131	0.35738	.	.	0.242244723065	0.23846	.	.	0.10059525999	0.11367	0.374639153481	0.21494	T	.	.	.	-0.104603	0.35662	T	-0.388031	0.34782	T	0.0182385127210197	0.00544	T	0.525248	0.26315	T	.	.	.	.	.	.	.	.	-8.519	0.64555	D	.	.	0.159	0.35098	B	.;.;.	.;.;.	1.398936	0.18129	13.56	0.77473308228391879	0.11891	0.11269	0.16522	N	AEFI	0.073094	0.14609	N	-0.457765735320585	0.23478	1.261062	-0.487687774750454	0.22491	1.221904	0.00265572977610148	0.09608	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	1.01	0.19044	-0.131000	0.10461	.	.	0.508000	0.23123	0.000000	0.06391	0.000000	0.08366	0.883000	0.42306	0.1907:0.1228:0.4717:0.2148	1.972	0.03202	441	0.80015	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	326.36	5	chr2	178659026	.	G	A	326.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=288;ExcessHet=0;FS=0;InbreedingCoeff=-0.0292;MLEAC=1;MLEAF=0.026;MQ=26.2;MQRankSum=0.688;QD=15.54;ReadPosRankSum=0;SOR=0.387	GT:AD:DP:GQ:PL	0/1:8,13:21:99:340,0,177	18	0	1	0
chr2	178675085	178675085	T	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon145:c.A30663C:p.E10221D,TTN:NM_001256850:exon146:c.A33444C:p.E11148D,TTN:NM_001267550:exon150:c.A34566C:p.E11522D	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	1497	23	0	0	23	0.00762347	.	.	.	56069	Tibial_muscular_dystrophy|Cardiomyopathy|not_specified|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.114	.	0.0015	0.00599042	0.0044	0.0002	0.0012	0.0002	0	0.0018	0.0011	0.0240	0.0036869	570	154602	rs140640738	0.0021	0.0022	0.0015	0.0026	0.0204	0.0020	0.0020	0.0195	0.0192	0.0005	0.0007	0.0009	0.0002	7.563e-05	0.0039	0.0010	0.0028	0.0204	0.0018	0.0018	0.0016	0.0021	0.0239	0.0016	0.0016	0.0204	0.0190	0.0003	0	0.0018	0.0009	0	0	0	0.0017	0.0019	0.0239	0.226	0.18562	T	.	.	.	0.256	0.31372	B	0.076	0.28435	B	.	.	.	.	1	0.81001	D	2.395	0.69210	M	-0.99	0.76168	T	-1.17	0.29933	N	0.162	0.17002	-0.6563	0.62439	T	0.287	0.65899	T	9	0.0028508902	0.00045	T	.	.	.	0.114	0.32008	0.103	0.01643	0.315314060047	0.31143	.	.	0.0921290850825	0.10402	0.378360688686	0.22023	T	.	.	.	-0.455528	0.01047	T	-0.410855	0.32125	T	0.0261382429619195	0.01425	T	0.39586	0.12846	T	.	.	.	.	.	.	.	.	-8.571	0.64898	D	.	.	0.381	0.58487	A	.;.;.;.	.;.;.;.	2.365297	0.30344	18.41	0.79256076521976482	0.12660	0.92980	0.57023	D	AEFBI	0.394143	0.47151	N	-0.239806522051127	0.31511	1.767698	-0.183750437617861	0.32132	1.825115	0.00121544646940768	0.08343	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.7	3.31	0.37025	0.842000	0.27280	.	.	0.665000	0.62972	0.955000	0.33325	1.000000	0.68203	0.867000	0.41218	0.126:0.0681:0.0:0.806	7.624	0.27367	394	0.83065	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	642.33	39	chr2	178675085	.	T	G	642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=694;ExcessHet=0;FS=1.992;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=0.643;SOR=0.913	GT:AD:DP:GQ:PL	0/1:53,25:78:99:656,0,1387	18	0	1	0
chr2	178717244	178717244	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon85:c.G21758A:p.R7253H,TTN:NM_001256850:exon86:c.G24539A:p.R8180H,TTN:NM_001267550:exon88:c.G25490A:p.R8497H	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	1495	26	0	0	26	0.00862069	.	.	.	55924	Cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|not_provided|not_specified|Primary_dilated_cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MedGen:CN169374|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:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.192	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.0037192	575	154602	rs149855485	0.0023	0.0023	0.0016	0.0029	0.0210	0.0022	0.0022	0.0202	0.0199	0.0004	0.0007	0.0008	7.559e-05	7.493e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0245	0.0016	0.0015	0.0209	0.0196	0.0002	0	0.0017	0.0009	0.0002	0	0	0.0017	0.0014	0.0245	0.043	0.41364	D	.	.	.	0.99	0.63424	D	0.683	0.53559	P	.	.	.	.	1	0.81001	D	.	.	.	-0.32	0.68181	T	-2.41	0.52938	N	0.226	0.32259	-0.4178	0.71463	T	0.313	0.68326	T	9	0.005892992	0.00132	T	.	.	.	0.192	0.47115	.	.	0.44711355012	0.44333	.	.	0.349254591091	0.36782	0.562482059002	0.47618	T	.	.	.	-0.371096	0.03539	T	-0.288911	0.45886	T	0.0385244386504448	0.03425	T	0.869813	0.73860	D	.	.	.	.	.	.	.	.	-5.161	0.38543	T	.	.	0.216	0.44617	B	.;.;.;.	.;.;.;.	3.448176	0.47999	22.5	0.86646601825568803	0.16677	0.81721	0.41068	D	AEFBCI	0.334148	0.43301	N	0.419899694833852	0.62517	4.468879	0.441882660854808	0.64196	4.669426	0.364662819652845	0.19811	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	1.594000	0.36307	.	.	0.599000	0.40250	0.790000	0.29595	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	19.812	0.96549	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.012195	0.018939	0.02632	1507.33	34	chr2	178717244	.	C	T	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.29;DP=750;ExcessHet=0;FS=3.206;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-1.19;SOR=0.61	GT:AD:DP:GQ:PL	0/1:73,54:127:99:1521,0,1822	18	0	1	0
chr2	178720104	178720104	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon78:c.C19806G:p.F6602L,TTN:NM_001256850:exon79:c.C22587G:p.F7529L,TTN:NM_001267550:exon81:c.C23538G:p.F7846L	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	1496	26	0	0	26	0.00861498	.	.	.	55886	Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy|Cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|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|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.185	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.003661	566	154602	rs149523263	0.0022	0.0022	0.0016	0.0028	0.0210	0.0022	0.0021	0.0202	0.0199	0.0003	0.0007	0.0008	5.039e-05	7.491e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0245	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0016	0.0014	0.0245	0.315	0.13789	T	.	.	.	0.885	0.48692	P	0.484	0.47189	P	.	.	.	.	0.992504	0.41663	D	.	.	.	-0.23	0.66652	T	-3.28	0.65627	D	0.39	0.45615	-0.5456	0.66952	T	0.246	0.61530	T	9	0.0049153566	0.00105	T	.	.	.	0.185	0.45933	0.578	0.70347	0.323615622048	0.31974	.	.	0.255002372626	0.28080	0.692162632942	0.66016	T	.	.	.	-0.403512	0.02196	T	-0.335473	0.40855	T	0.0733571982613626	0.09114	T	0.655934	0.29249	T	.	.	.	.	.	.	.	.	-5.741	0.47264	T	.	.	0.925	0.84574	P	.;.;.;.	.;.;.;.	0.710161	0.10788	7.474	0.85799480559834507	0.16120	0.31520	0.24358	N	AEFBI	0.349517	0.44328	N	-0.44675294682716	0.23851	1.283709	-0.585824586972663	0.19863	1.06759	0.0050570851190488	0.10811	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	-2.56	0.05903	0.894000	0.27983	.	.	-0.113000	0.14837	0.173000	0.23973	0.001000	0.17328	0.989000	0.64315	0.7189:0.0:0.2811:0.0	13.015	0.58157	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	1556.33	44	chr2	178720104	.	G	C	1556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.702;DP=839;ExcessHet=0;FS=3.017;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.775;SOR=0.959	GT:AD:DP:GQ:PL	0/1:91,58:149:99:1570,0,2610	18	0	1	0
chr2	178727190	178727190	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon66:c.A16443G:p.I5481M,TTN:NM_001256850:exon67:c.A19224G:p.I6408M,TTN:NM_001267550:exon69:c.A20175G:p.I6725M	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	1494	26	0	0	26	0.00862641	.	.	.	55832	Tibial_muscular_dystrophy|Cardiomyopathy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|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:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.090	.	0.0015	0.00599042	0.0043	0.0002	0.0011	0	0	0.0018	0.0011	0.0232	0.003661	566	154602	rs146627500	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0201	0.0198	0.0003	0.0007	0.0008	5.04e-05	7.492e-05	0.0043	0.0011	0.0027	0.0210	0.0018	0.0018	0.0015	0.0021	0.0244	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0016	0.0014	0.0244	0.114	0.28646	T	.	.	.	0.001	0.07471	B	0.008	0.13708	B	.	.	.	.	1	0.81001	D	.	.	.	0.97	0.42502	T	-0.54	0.16598	N	0.282	0.31925	-1.0827	0.06833	T	0.056	0.23753	T	9	0.003027141	0.00050	T	.	.	.	0.090	0.26093	.	.	0.134241683229	0.13084	.	.	0.0864879405707	0.09766	0.372696995735	0.21219	T	.	.	.	-0.5345	0.00361	T	-0.523629	0.19927	T	0.0105953431527729	0.00148	T	0.708229	0.31875	T	.	.	.	.	.	.	.	.	-3.332	0.15587	T	.	.	0.111	0.21691	B	.;.;.;.	.;.;.;.	0.350729	0.07236	3.837	0.62127654994000703	0.06883	0.05411	0.11281	N	AEFGBCI	0.125355	0.24182	N	-1.21182827757915	0.04826	0.2186909	-1.26363312318132	0.04932	0.2338384	0.999762739685858	0.42728	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	-6.74	0.01580	-0.713000	0.05110	.	.	-0.123000	0.13640	0.033000	0.20612	0.000000	0.08366	0.939000	0.47918	0.4322:0.3181:0.0839:0.1659	2.94	0.05470	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.02632	2003.33	35	chr2	178727190	.	T	C	2003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.786;DP=798;ExcessHet=0;FS=1.224;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.007;SOR=0.565	GT:AD:DP:GQ:PL	0/1:84,80:164:99:2017,0,2137	18	0	1	0
chr2	178729332	178729332	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon61:c.A15092G:p.N5031S,TTN:NM_001256850:exon62:c.A17873G:p.N5958S,TTN:NM_001267550:exon64:c.A18824G:p.N6275S	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	1493	27	0	0	27	0.00896117	.	.	.	55811	Primary_dilated_cardiomyopathy|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	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:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.286	.	0.0015	0.00599042	0.0044	0.0002	0.0012	0.0002	0.0002	0.0018	0.0011	0.0244	0.0037904	586	154602	rs184412722	0.0023	0.0023	0.0016	0.0029	0.0214	0.0022	0.0022	0.0206	0.0203	0.0004	0.0007	0.0008	0.0002	7.493e-05	0.0042	0.0011	0.0030	0.0214	0.0018	0.0018	0.0015	0.0022	0.0244	0.0017	0.0016	0.0209	0.0195	0.0002	0	0.0018	0.0009	0	9.418e-05	0	0.0017	0.0019	0.0244	0.075	0.34444	T	.	.	.	0.362	0.33945	B	0.11	0.31460	B	.	.	.	.	1	0.81001	D	.	.	.	0.32	0.58468	T	-2.25	0.50337	N	0.417	0.45709	-0.5551	0.66591	T	0.244	0.61272	T	9	0.005814582	0.00130	T	.	.	.	0.286	0.60456	.	.	0.173771789658	0.16945	.	.	0.0891353627514	0.10071	0.453017085791	0.32355	T	.	.	.	-0.448893	0.01146	T	-0.400661	0.33307	T	0.0272107643053202	0.01574	T	0.841416	0.55722	T	.	.	.	.	.	.	.	.	-5.947	0.45833	T	.	.	0.347	0.56370	A	.;.;.;.	.;.;.;.	2.852582	0.37665	20.6	0.93888962463808012	0.23911	0.97952	0.78382	D	AEFBI	0.889010	0.82269	D	0.31910689628272	0.57128	3.879228	0.382029825457792	0.60457	4.233519	0.999998892425968	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	6.260000	0.72463	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.068:0.0:0.932	12.2	0.53629	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2283.33	34	chr2	178729332	.	T	C	2283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.58;DP=950;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.45;SOR=0.652	GT:AD:DP:GQ:PL	0/1:92,90:182:99:2297,0,2449	18	0	1	0
chr2	178731800	178731800	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon55:c.T13343C:p.V4448A,TTN:NM_001256850:exon56:c.T16124C:p.V5375A,TTN:NM_001267550:exon58:c.T17075C:p.V5692A	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	.	.	.	.	.	.	.	.	.	.	228834	Cardiomyopathy|not_specified	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.132	0.00785641332453	.	0.000199681	6.627e-05	0	0	0	0	1.499e-05	0	0.0004	5.82e-05	9	154602	rs570039271	2.395e-05	2.394e-05	1.906e-05	2.888e-05	0.0004	1.739e-05	1.539e-05	0.0003	0.0002	0	0	0	2.52e-05	0	0	8.995e-07	3.313e-05	0.0004	6.568e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	.	.	.	0.022	0.18677	B	0.027	0.21085	B	.	.	.	.	1	0.81001	D	.	.	.	1.05	0.39990	T	-1.88	0.43906	N	0.354	0.40164	-1.0626	0.11118	T	0.068	0.27980	T	9	0.085484326	0.14435	T	0.007856	0.20851	T	0.132	0.35948	0.578	0.70347	0.33440975612	0.33058	.	.	0.107757450643	0.12158	0.429047346115	0.29078	T	.	.	.	-0.35599	0.04362	T	-0.406401	0.32642	T	0.0460064222241467	0.04784	T	0.454655	0.21965	T	.	.	.	.	.	.	.	.	-2.058	0.03408	T	.	.	0.281	0.51445	B	.;.;.;.	.;.;.;.	2.201220	0.28072	17.68	0.87786845563754301	0.17481	0.89743	0.50406	D	AEFBI	0.439232	0.49829	N	-0.137513211814065	0.35767	2.058684	0.0913943659929411	0.44115	2.699501	0.999907575942255	0.45458	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	3.864000	0.55736	.	.	0.756000	0.94297	0.993000	0.37899	0.999000	0.35428	0.897000	0.43391	1.0:0.0:0.0:0.0	16.394	0.83400	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2112.33	34	chr2	178731800	.	A	G	2112.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=914;ExcessHet=0;FS=2.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.5;ReadPosRankSum=0.493;SOR=0.575	GT:AD:DP:GQ:PL	0/1:59,69:128:99:2126,0,1706	18	0	1	0
chr2	178775871	178775871	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.G5855A:p.R1952H,TTN:NM_133432:exon27:c.G5855A:p.R1952H,TTN:NM_133437:exon27:c.G5855A:p.R1952H,TTN:NM_001256850:exon28:c.G5993A:p.R1998H,TTN:NM_001267550:exon28:c.G5993A:p.R1998H,TTN:NM_133378:exon28:c.G5993A:p.R1998H,TTN:NM_133379:exon28:c.G5993A:p.R1998H	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	1518	4	0	0	4	0.00131579	.	.	.	56421	Tip-toe_gait|Tibial_muscular_dystrophy|TTN-related_myopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|not_provided|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0100175,MedGen:CN294812|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:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.246	0.0481180325089	0.0008	0.00159744	0.0018	0	8.649e-05	0.0001	0	0.0012	0.0011	0.0079	0.0014553	225	154602	rs144135510	0.0009	0.0009	0.0007	0.0012	0.0077	0.0009	0.0009	0.0072	0.0070	0.0002	0.0002	0.0078	2.519e-05	1.872e-05	0.0012	0.0004	0.0011	0.0077	0.0008	0.0008	0.0007	0.0009	0.0087	0.0007	0.0006	0.0066	0.0059	0.0001	0	0.0002	0.0066	0	0	0	0.0007	0	0.0087	0.017	0.53900	D	0.001	0.83351	D	1.0	0.90584	D	0.939	0.75477	D	.	.	.	.	0.937106	0.37179	D	.	.	.	-0.2	0.66113	T	-3.12	0.76496	D	0.338	0.62611	-0.3866	0.72448	T	0.343	0.70851	T	9	0.0073085725	0.00166	T	0.048118	0.63228	D	0.246	0.55340	.	.	0.323342291347	0.31936	.	.	0.4417022315	0.44153	0.709797382355	0.68565	T	.	.	.	-0.303787	0.08307	T	-0.20458	0.54212	T	0.0792865792762227	0.09894	T	0.979302	0.94722	D	.	.	.	.	.	.	.	.	-8.638	0.66661	D	.	.	0.230	0.46250	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.859124	0.79503	27.1	0.97431441238290972	0.33931	0.90618	0.51944	D	AEFBI	0.704456	0.66017	D	0.570552651699765	0.71343	5.636335	0.589103562354271	0.74155	6.089477	0.999991015998139	0.74766	0.553676	0.25195	0	0.54472	0.11627	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.12	5.12	0.69459	4.802000	0.62233	.	.	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	18.559	0.91047	344	0.85734	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001514	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2042.33	33	chr2	178775871	.	C	T	2042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=828;ExcessHet=0;FS=8.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.929;SOR=0.64	GT:AD:DP:GQ:PL	0/1:68,70:138:99:2056,0,1785	18	0	1	0
chr2	178795030	178795030	T	C	exonic	TTN	.	synonymous SNV	TTN:NM_001256850:exon7:c.A1137G:p.R379R,TTN:NM_001267550:exon7:c.A1137G:p.R379R,TTN:NM_003319:exon7:c.A1137G:p.R379R,TTN:NM_133378:exon7:c.A1137G:p.R379R,TTN:NM_133379:exon7:c.A1137G:p.R379R,TTN:NM_133432:exon7:c.A1137G:p.R379R,TTN:NM_133437:exon7:c.A1137G:p.R379R	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	1498	24	0	0	24	0.00794702	.	.	.	55762	Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Hypertrophic_cardiomyopathy_9|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tip-toe_gait|Cardiovascular_phenotype|TTN-related_myopathy|not_specified|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MedGen:CN230736|MONDO:MONDO:0100175,MedGen:CN294812|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0016	0.00599042	0.0048	0.0002	0.0012	0.0002	0.0002	0.0024	0.0022	0.0242	0.0041267	638	154602	rs55972547	0.0025	0.0025	0.0018	0.0032	0.0222	0.0024	0.0024	0.0214	0.0210	0.0005	0.0007	0.0078	0.0002	5.763e-05	0.0043	0.0011	0.0034	0.0222	0.0020	0.0020	0.0017	0.0024	0.0252	0.0019	0.0018	0.0216	0.0202	0.0002	0	0.0020	0.0069	0	9.413e-05	0	0.0018	0.0019	0.0252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.009063	0.000000	0.004076	0.008772	0.000000	0.000000	0.009146	0.037879	0.02632	2846.33	34	chr2	178795030	.	T	C	2846.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.372;DP=864;ExcessHet=0;FS=1.575;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.519;SOR=0.802	GT:AD:DP:GQ:PL	0/1:126,112:238:99:2860,0,3389	18	0	1	0
chr2	218814154	218814154	C	T	exonic	CYP27A1	.	nonsynonymous SNV	CYP27A1:NM_000784:exon6:c.C1151T:p.P384L	Cerebrotendinous xanthomatosis, Autosomal recessive	0	1375	136	11	0	158	0.0543329	.	.	.	76739	not_specified|Cholestanol_storage_disease|not_provided|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.706	.	0.0185	0.00858626	0.0188	0.0043	0.0085	0.0002	0.0033	0.0237	0.0287	0.0305	0.0184215	2848	154602	rs41272687	0.0210	0.0210	0.0201	0.0219	0.0321	0.0208	0.0207	0.0311	0.0307	0.0036	0.0090	0.0606	5.038e-05	0.0046	0.0296	0.0215	0.0236	0.0321	0.0153	0.0153	0.0161	0.0144	0.0302	0.0147	0.0145	0.0262	0.0247	0.0048	0.0011	0.0122	0.0662	0.0004	0.0035	0.0204	0.0218	0.0171	0.0302	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.991	0.79672	D	0.000004	0.62929	D	0.107590	1	0.81001	D	3.485	0.92608	M	-0.89	0.74793	T	-8.96	0.98008	D	0.304	0.34336	0.102	0.84217	D	0.405	0.75494	T	10	0.01014173	0.00227	T	.	.	.	0.706	0.89468	.	.	.	.	0.7685931894027043	0.76808	0.718227317278	0.62082	0.659238398075	0.61300	T	0.789706	0.94524	D	-0.270528	0.11699	T	-0.136996	0.60378	T	0.11918224549788	0.14350	T	0.893211	0.63049	D	0.86496913	0.88467	0.8525277	0.91674	0.84357893	0.86867	0.8265389	0.89961	-10.334	0.75887	D	.	.	0.150	0.33226	B	.	.	4.776233	0.77372	26.7	0.998816009000558	0.95733	0.99245	0.93370	D	AEFDBI	0.969073	0.99150	D	0.873247694114172	0.90388	10.38185	0.80346255499055	0.90031	10.22696	0.999999999999579	0.74766	0.732398	0.92422	0	0.610034	0.51514	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	7.760000	0.84095	5.941000	0.51480	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.534000	0.29800	0.0:1.0:0.0:0.0	18.974	0.92704	877	0.30165	.	.	.	.	.	rs41272687	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025176	0.000000	0.013587	0.008772	0.050000	0.043103	0.060976	0.037879	0.05263	2124.83	37	chr2	218814154	.	C	T	2124.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.75;DP=757;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.803;SOR=0.735	GT:AD:DP:GQ:PL	0/1:43,38:81:99:1064,0,1120	17	0	2	0
chr2	232263211	232263211	T	G	exonic	DIS3L2	.	nonsynonymous SNV	DIS3L2:NM_001257281:exon13:c.T1430G:p.L477R,DIS3L2:NM_152383:exon13:c.T1430G:p.L477R	Perlman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	238679	Perlman_syndrome|not_provided|DIS3L2-related_disorder	MONDO:MONDO:0009965,MedGen:C0796113,OMIM:267000,Orphanet:2849|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.510	0.0325097522616	.	.	8.333e-05	0	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs201719374	5.609e-05	5.609e-05	5.581e-05	5.638e-05	6.835e-05	4.61e-05	4.236e-05	5.597e-05	5.11e-05	0	4.472e-05	0	0	0	0	6.835e-05	6.623e-05	0	0.0002	0.0002	0.0002	0.0003	7.347e-05	0.0002	0.0001	2.846e-05	1.858e-05	0	0.0296	0	0	0	0	0	7.347e-05	0.0005	0	0.007	0.59928	D	0.038	0.51421	D	0.899	0.49514	P	0.771	0.56890	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.825	0.47900	L	1.28	0.35960	T	-3.99	0.77798	D	0.86	0.85660	-0.8703	0.50506	T	0.157	0.48959	T	10	0.048276722	0.04257	T	0.03251	0.54314	D	0.510	0.78971	0.618	0.75232	0.397201501934	0.39331	0.8236105928229279	0.82318	1.00916610978	0.74694	0.629024028778	0.57006	T	0.175447	0.52503	T	0.0913757	0.63345	D	0.130147	0.78903	D	0.443510774349259	0.30558	T	0.946705	0.79569	D	0.846371	0.87068	0.6509974	0.79579	0.846371	0.87069	0.6509974	0.79580	-12.562	0.87480	D	0.5704966065535744	0.63770	0.164	0.36254	B	.;.;.;.	.;.;.;.	4.825740	0.78650	26.9	0.99665767629669255	0.78266	0.99037	0.90305	D	AEFBI	0.882117	0.80999	D	0.529285425112568	0.68830	5.271463	0.508669877540246	0.68573	5.238609	0.999999998863284	0.74766	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	7.755000	0.84048	7.765000	0.68366	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	0.0:0.0:0.0:1.0	15.080	0.71774	783	0.47268	.;Ribonuclease II/R|Ribonuclease II/R;Ribonuclease II/R|Ribonuclease II/R;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1771.33	35	chr2	232263211	.	T	G	1771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.251;DP=803;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.706;SOR=0.602	GT:AD:DP:GQ:PL	0/1:97,81:178:99:1785,0,2830	18	0	1	0
chr2	232543615	232543615	C	A	exonic	CHRNG	.	synonymous SNV	CHRNG:NM_005199:exon9:c.C951A:p.I317I	Escobar syndrome, Autosomal recessive;Multiple pterygium syndrome, lethal type, Autosomal recessive	1	1510	11	0	0	11	0.00362917	.	.	.	196264	not_provided|Autosomal_recessive_multiple_pterygium_syndrome|Lethal_multiple_pterygium_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0057	0.0117812	0.0129	0.0012	0.0381	0.0302	0.0260	0.0089	0.0189	0.0038	0.0126842	1961	154602	rs75369104	0.0101	0.0102	0.0104	0.0099	0.0360	0.0100	0.0099	0.0345	0.0338	0.0010	0.0338	0.0011	0.0360	0.0254	0.0036	0.0084	0.0107	0.0043	0.0102	0.0102	0.0095	0.0109	0.0346	0.0098	0.0096	0.0305	0.0289	0.0015	0	0.0231	0.0014	0.0346	0.0252	0	0.0094	0.0118	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.004028	0.010101	0.000000	0.000000	0.000000	0.000000	0.009146	0.011364	0.02632	2222.33	33	chr2	232543615	.	C	A	2222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.923;DP=957;ExcessHet=0;FS=0.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.522;SOR=0.651	GT:AD:DP:GQ:PL	0/1:108,89:197:99:2236,0,2617	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	22154.8	102	chr2	233681881	.	T	G	22154.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.327;DP=1664;ExcessHet=1.2994;FS=1.262;InbreedingCoeff=0.0087;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-0.254;SOR=0.815	GT:AD:DP:GQ:PL	0/1:43,64:107:99:1534,0,1098	7	3	9	0
chr2	233760428	233760428	C	T	exonic	UGT1A1	.	synonymous SNV	UGT1A1:NM_000463:exon1:c.C141T:p.I47I	Crigler-Najjar syndrome, type I, Autosomal recessive;Crigler-Najjar syndrome, type II, Autosomal recessive;Hyperbilirubinemia, familial transient neonatal, Autosomal recessive	0	1502	20	0	0	20	0.00661376	.	.	.	168042	not_specified|Gilbert_syndrome|Lucey-Driscoll_syndrome|UGT1A1-related_disorder|not_provided|Hyperbilirubinemia|Crigler-Najjar_syndrome|Crigler-Najjar_syndrome,_type_II|Crigler-Najjar_syndrome_type_1	MedGen:CN169374|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002904,MONDO:MONDO:0024288,MedGen:C0311468|MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0017	0.000998403	0.0024	0.0005	0.0014	0	0.0002	0.0035	0.0033	0.0018	0.0021669	335	154602	rs34526305	0.0017	0.0017	0.0017	0.0017	0.0095	0.0017	0.0016	0.0075	0.0068	0.0003	0.0013	0.0305	0	3.744e-05	0.0095	0.0011	0.0031	0.0018	0.0015	0.0015	0.0016	0.0015	0.0013	0.0014	0.0013	0.0011	0.0010	0.0004	0	0.0012	0.0285	0	0	0.0034	0.0013	0.0028	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.005539	0.000000	0.006793	0.000000	0.000000	0.008621	0.012195	0.003788	0.02632	4067.33	33	chr2	233760428	.	C	T	4067.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.386;DP=925;ExcessHet=0;FS=1.489;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.227;SOR=0.599	GT:AD:DP:GQ:PL	0/1:139,147:286:99:4081,0,3898	18	0	1	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA,EOMES:NM_005442:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	335	305	451	409	22	1291	0.675359	.	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	12741.0	20	chr3	27721936	.	G	GCGGCGC	12741.0	.	AC=26;AF=0.684;AN=38;BaseQRankSum=-0.839;DP=443;ExcessHet=0.0524;FS=2.607;InbreedingCoeff=0.3602;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=28.87;ReadPosRankSum=0.221;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,21:21:63:.:.:894,63,0:.	3	10	6	0
chr3	46858411	46858411	C	T	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon5:c.G532A:p.D178N	Cardiomyopathy, hypertrophic, 8	0	1520	2	0	0	2	0.000657462	.	.	.	52298	Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_8|Hypertrophic_cardiomyopathy|Cardiomyopathy|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.709	0.2201771311	7.7e-05	0.000399361	0.0003	0	8.643e-05	0	0	8.997e-05	0	0.0015	0.0002264	35	154602	rs145520567	0.0001	0.0001	5.99e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0	0	0	0	0.0005	2.518e-05	0.0002	0.0016	8.537e-05	8.531e-05	7.711e-05	9.4e-05	0.0021	4.954e-05	3.96e-05	0.0011	0.0009	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0021	0.011	0.55530	D	0.051	0.47828	T	0.983	0.60381	D	0.483	0.47159	P	0.000001	0.62929	D	0.000000	1	0.81001	D	2.57	0.75187	M	-1.52	0.81478	D	-4.26	0.76174	D	0.853	0.84922	0.261	0.86929	D	0.533	0.82714	D	10	0.3612776	0.52752	T	0.220177	0.87744	D	0.709	0.89605	.	.	0.869866588769	0.86860	0.6067735504588467	0.60608	0.924009153585	0.71568	0.776091217995	0.78339	T	0.74897	0.93106	D	-0.252559	0.13787	T	-0.170938	0.57358	T	0.431182354688644	0.30104	T	0.951105	0.81346	D	0.6151212	0.73502	0.4172226	0.65783	0.6151212	0.73503	0.4172226	0.65783	-11.386	0.81732	D	0.5976635823013203	0.66457	0.763	0.75617	P	.;.	.;.	4.909294	0.80764	27.4	0.99914874074217275	0.98309	0.98825	0.87349	D	AEFBI	0.975985	0.99649	D	0.612990837167797	0.73993	6.058093	0.560821823494333	0.72152	5.765209	0.999999999750409	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	3.77	3.77	0.42499	7.722000	0.83741	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.478	0.60772	140	0.94439	EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1864.33	39	chr3	46858411	.	C	T	1864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.47;DP=852;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.871;SOR=0.637	GT:AD:DP:GQ:PL	0/1:64,74:138:99:1878,0,1566	18	0	1	0
chr3	149141200	149141200	-	TTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	0	74	22	0	130	152	0.129412	.	.	.	289084	Hermansky-Pudlak_syndrome|not_provided	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1528	0.0855	0.1686	0.1749	0.2173	0.1539	0.1706	0.1422	0.0001153	3	26028	rs111598115	0.1433	0.1582	0.1438	0.1429	0.1571	0.1428	0.1426	0.1536	0.1522	0.0970	0.1463	0.1186	0.1571	0.1933	0.0911	0.1440	0.1425	0.1265	0.1545	0.1568	0.1526	0.1565	0.1932	0.1528	0.1521	0.1873	0.1848	0.1476	0.0835	0.1932	0.1594	0.1759	0.2204	0.1434	0.1430	0.1580	0.1278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	95762.0	329	chr3	149141200	.	C	CTTTT	95762.0	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.089;DP=7853;ExcessHet=8.7202;FS=0.528;InbreedingCoeff=-0.3838;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=0.228;SOR=0.752	GT:AD:DP:GQ:PL	0/1:211,74:399:99:4103,0,8882	11	0	8	0
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	5192.91	35	chr3	160258644	.	G	GA	5192.91	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.423;DP=895;ExcessHet=4.0818;FS=0;InbreedingCoeff=-0.2179;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.04;SOR=0.649	GT:AD:DP:GQ:PL	0/1:27,25:52:99:551,0,604	9	1	9	0
chr3	185192290	185192290	G	A	exonic	EHHADH	.	nonsynonymous SNV	EHHADH:NM_001166415:exon7:c.C1820T:p.S607F,EHHADH:NM_001966:exon7:c.C2108T:p.S703F	.	426	1080	16	0	0	16	0.00735294	.	.	.	697968	Chronic_kidney_disease|not_provided	Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.441	.	0.0106	0.00519169	0.0097	0.0030	0.0065	0	0.0030	0.0138	0.0110	0.0075	0.0020698	320	154602	rs55752621	0.0123	0.0123	0.0123	0.0123	0.0182	0.0122	0.0121	0.0154	0.0143	0.0024	0.0073	0.0047	5.038e-05	0.0033	0.0182	0.0143	0.0110	0.0077	0.0084	0.0084	0.0090	0.0079	0.0142	0.0080	0.0079	0.0134	0.0131	0.0021	0	0.0095	0.0035	0	0.0027	0.0170	0.0142	0.0090	0.0037	0.004	0.65419	D	0.007	0.69154	D	0.942	0.52977	P	0.823	0.59197	P	0.003430	0.34958	N	0.304535	0.665072	0.33088	D	1.975	0.53506	M	-2.55	0.89561	D	-3.2	0.64710	D	0.088	0.12198	0.522	0.90851	D	0.699	0.89617	D	10	0.0045408607	0.00094	T	.	.	.	0.441	0.74447	.	.	0.809898457183	0.80811	0.5020311587281656	0.50125	0.217767607061	0.24300	0.351432025433	0.18132	T	0.429086	0.77801	T	-0.314954	0.07318	T	-0.212213	0.53484	T	0.0193413575760325	0.00639	T	0.869413	0.57379	D	0.37099153	0.58658	0.44714317	0.67804	0.49529305	0.66818	0.44714317	0.67804	-7.311	0.57856	T	0.5527826624572862	0.62121	0.155	0.34383	B	.;.	.;.	4.191394	0.63170	24.5	0.99810822710827896	0.89442	0.96373	0.68821	D	AEFBI	0.794060	0.72188	D	0.538369264754019	0.69376	5.348222	0.512215677056828	0.68811	5.271874	0.892443792329798	0.25883	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.91	5.03	0.67015	3.814000	0.55348	6.597000	0.56044	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	0.0673:0.0:0.9327:0.0	15.179	0.72625	666	0.61362	3-hydroxyacyl-CoA dehydrogenase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.005051	0.019022	0.002924	0.000000	0.000000	0.018293	0.007576	0.05263	2633.83	33	chr3	185192290	.	G	A	2633.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.78;DP=802;ExcessHet=0.119;FS=3.111;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.125;SOR=0.512	GT:AD:DP:GQ:PL	0/1:63,45:108:99:1293,0,1773	17	0	2	0
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005: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	WFS1-Related_Spectrum_Disorders|Wolfram_syndrome_1|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided|not_specified	MedGen:CN239410|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900|MedGen:CN169374	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	0	1	0.592145	0.550505	0.592391	0.529240	0.600000	0.594828	0.612805	0.643939	0.5526	85232.2	375	chr4	6300980	.	C	T	85232.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.441;DP=4379;ExcessHet=0.1862;FS=0.605;InbreedingCoeff=0.2549;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=22.78;ReadPosRankSum=-0.679;SOR=0.767	GT:AD:DP:GQ:PL	1/1:0,280:280:99:9249,841,0	5	7	7	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	10	265	679	568	0	1815	0.773987	.	.	YES	54604	WFS1-Related_Spectrum_Disorders|not_specified|Type_2_diabetes_mellitus|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_6	MedGen:CN239410|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6323	0.729433	0.6595	0.6736	0.7600	0.9441	0.5735	0.6010	0.6641	0.7013	0.648394	100243	154602	rs1801214	0.6232	0.6230	0.6215	0.6249	0.9621	0.6221	0.6216	0.9540	0.9506	0.6757	0.7449	0.6960	0.9621	0.5729	0.6281	0.5982	0.6483	0.6951	0.6443	0.6444	0.6428	0.6459	0.9402	0.6409	0.6395	0.9181	0.9091	0.6704	0.3904	0.7014	0.6817	0.9402	0.5669	0.6531	0.6019	0.6596	0.7030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.658107	0.641414	0.689373	0.599415	0.700000	0.629310	0.643293	0.696970	0.5789	63552.2	254	chr4	6301295	.	C	T	63552.2	.	AC=22;AF=0.579;AN=38;BaseQRankSum=1.58;DP=3316;ExcessHet=0.5308;FS=0.581;InbreedingCoeff=0.1364;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=21.89;ReadPosRankSum=-0.018;SOR=0.604	GT:AD:DP:GQ:PL	1/1:0,150:150:99:5170,450,0	4	7	8	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	432	231	483	376	0	1235	0.727755	.	.	.	1276892	not_provided|Hereditary_attention_deficit-hyperactivity_disorder	MedGen:C3661900|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	31737.2	130	chr4	9783510	.	T	C	31737.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.592;DP=1781;ExcessHet=0.463;FS=0;InbreedingCoeff=0.1556;MLEAC=18;MLEAF=0.474;MQ=59.93;MQRankSum=0;QD=20.95;ReadPosRankSum=0.468;SOR=0.649	GT:AD:DP:GQ:PL	0/1:40,69:109:99:2000,0,1052	6	5	8	0
chr4	38797027	38797027	C	A	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.G1805T:p.S602I	.	433	95	396	598	0	1592	0.893378	.	.	.	23399	Leprosy,_susceptibility_to,_1|Leprosy,_protection_against|TLR1-related_disorder	MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548|MedGen:C2750734|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	0.056	.	0.4786	0.800519	0.5389	0.8744	0.7912	0.9899	0.1358	0.3358	0.5330	0.8978	0.490919	75897	154602	rs5743618	0.3478	0.3478	0.3322	0.3635	0.9891	0.3470	0.3467	0.9809	0.9775	0.8882	0.7620	0.5248	0.9891	0.1455	0.7954	0.2484	0.4321	0.8925	0.5230	0.5233	0.5155	0.5310	0.9882	0.5200	0.5187	0.9656	0.9564	0.8680	0.3374	0.6795	0.5378	0.9882	0.1309	0.7857	0.2742	0.5970	0.9061	1.0	0.00964	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.223979	0.03474	N	1.586730	1	0.08975	P	-2.455	0.00064	N	4.65	0.01779	T	2.33	0.00281	N	0.015	0.00203	-0.9814	0.34678	T	0.000	0.00011	T	9	1.5470836e-06	0.00003	T	.	.	.	0.056	0.15993	.	.	.	.	0.194904177424025	0.19408	0.0725892304128	0.08138	0.27531477809	0.06848	T	0.049442	0.28307	T	-0.808969	0.00007	T	-0.790984	0.02138	T	0.00365530579536446	0.00039	T	0.0535946	0.00383	T	0.052709427	0.09870	0.056038916	0.09939	0.052709427	0.09870	0.056038916	0.09939	1.962	0.00053	T	.	.	0.056	0.00496	B	.;.	.;.	0.550795	0.09195	5.976	0.10915785735844558	0.00150	0.04174	0.09671	N	AEFGBCI	0.072195	0.14400	N	-1.36048708973054	0.03017	0.134138	-1.14431403439413	0.06871	0.3322031	0.970372123348399	0.29203	0.631515	0.41029	0	0.697927	0.68747	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.43	2.76	0.31527	0.245000	0.17917	0.357000	0.17536	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4839:0.3908:0.0:0.1253	8.482	0.32208	653	0.62661	.;.	FAM114A1|FAM114A1|TLR6|TLR10|TLR1|TLR6|TLR1|TLR1|FAM114A1|TLR1|TLR1|FAM114A1|TLR6|TLR6|FAM114A1|TLR1|FAM114A1|FAM114A1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood	TLR1|TLR1|TLR10|TLR1|TLR1|TLR1|TLR1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Spleen|Whole_Blood	chr4:38798648	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.802115	0.868687	0.845109	0.918129	0.550000	0.758621	0.542683	0.757576	0.7632	94577.4	236	chr4	38797027	.	C	A	94577.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-0.546;DP=3688;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=29;MLEAF=0.763;MQ=53.96;MQRankSum=-8.634;QD=26.54;ReadPosRankSum=-0.324;SOR=0.701	GT:AD:DP:GQ:PL	1/1:0,217:217:99:7586,652,0	1	11	7	0
chr4	108014613	108014613	T	-	intronic	HADH	.	.	.	3-hydroxyacyl-CoA dehydrogenase deficiency, Autosomal recessive;Hyperinsulinemic hypoglycemia, familial, 4, Autosomal recessive	106	1300	115	1	0	117	0.0430622	.	.	.	428252	not_specified|Hyperinsulinemic_hypoglycemia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0000825,MONDO:MONDO:0005803,MedGen:C1864903,OMIM:PS256450,Orphanet:443095	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0265575	0.2513	0.2094	0.3089	0.2147	0.0915	0.2378	0.2422	0.3732	0.0051099	133	26028	rs550348868	0.2306	0.2896	0.2239	0.2376	0.2971	0.2297	0.2293	0.2926	0.2907	0.2459	0.2605	0.3020	0.2913	0.2673	0.1582	0.2197	0.2482	0.2971	0.0032	0.0060	0.0029	0.0034	0.0044	0.0029	0.0028	0.0029	0.0026	0.0021	0	0.0025	0.0012	0.0014	0.0110	0	0.0031	0.0010	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	38.35	41	chr4	108014612	.	CT	C	38.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.322;DP=1016;ExcessHet=0;FS=1.042;InbreedingCoeff=-0.0312;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=0.149;SOR=0.83	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,11:80:52:0|1:108014612_CT_C:52,0,1597:108014612	18	0	1	0
chr5	13886136	13886138	AAA	-	intronic	DNAH5	.	.	.	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	.	295553	Primary_ciliary_dyskinesia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1980	0.1530	0.2345	0.0616	0.3012	0.2362	0.2935	0.0933	0.0001229	19	154602	rs201639682	0.2197	0.2090	0.2202	0.2191	0.2636	0.2189	0.2187	0.2584	0.2562	0.1733	0.2636	0.2290	0.0664	0.2132	0.2468	0.2261	0.2174	0.2025	0.2129	0.2043	0.2115	0.2145	0.2821	0.2108	0.2099	0.2742	0.2710	0.1491	0.2864	0.2821	0.2820	0.0620	0.2497	0.2924	0.2356	0.2207	0.2146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	9628.75	13	chr5	13886135	.	CAAA	C	9628.75	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.821;DP=859;ExcessHet=2.9153;FS=5.194;InbreedingCoeff=-0.2258;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=19.69;ReadPosRankSum=0.636;SOR=1.251	GT:AD:DP:GQ:PL	1/0:2,12:39:99:943,357,417	7	0	12	0
chr5	38528850	38528851	AC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303937	not_provided|Stuve-Wiedemann_syndrome|Stüve-Wiedemann_syndrome_1	MedGen:C3661900|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MONDO:MONDO:0800043,MedGen:C5676888,OMIM:601559,Orphanet:3206	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3454	0.2017	0.3103	0.2720	0.2788	0.3796	0.3684	0.3566	0.0001423	22	154602	rs34759137	0.2992	0.3291	0.2912	0.3066	0.3471	0.2982	0.2977	0.3382	0.3366	0.1605	0.2828	0.4123	0.2437	0.3501	0.3471	0.2931	0.3145	0.3421	0.3263	0.3064	0.3244	0.3283	0.4408	0.3237	0.3227	0.4237	0.4168	0.1328	0.3872	0.3252	0.5692	0.3125	0.3579	0.4286	0.4208	0.3804	0.4408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	7231.25	39	chr5	38528849	.	GAC	G	7231.25	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.37;DP=803;ExcessHet=0.463;FS=0;InbreedingCoeff=0.1556;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=-0.359;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,25:33:87:.:.:974,175,87:.	6	0	13	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	Stuve-Wiedemann_syndrome|not_provided|not_specified	MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MedGen:C3661900|MedGen:CN169374	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7231.25	39	chr5	38528849	.	GACAC	G	7231.25	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.37;DP=803;ExcessHet=0.463;FS=0;InbreedingCoeff=0.1556;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=-0.359;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,4:33:87:.:.:974,761,738:.	15	0	4	0
chr5	80654908	80654908	-	CAGCGCCCC	exonic	MSH3	.	nonframeshift insertion	MSH3:NM_002439:exon1:c.181_182insCAGCGCCCC:p.P69_A70insPAP	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	492	960	49	4	17	74	0.0288316	.	.	.	215322	not_specified|not_provided|Familial_adenomatous_polyposis_4|Endometrial_carcinoma|Hereditary_cancer-predisposing_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0044300,MedGen:C4310719,OMIM:617100,Orphanet:480536|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0456	.	0.0046	0.0114	0.0011	0.0016	0.0114	0.0029	0	0.0077	0.0022668	59	26028	rs747419370	0.0112	0.0132	0.0113	0.0111	0.0385	0.0110	0.0110	0.0366	0.0359	0.0385	0.0043	0.0326	0.0024	0.0602	0.0143	0.0084	0.0131	0.0080	0.0298	0.0296	0.0276	0.0321	0.0507	0.0291	0.0288	0.0488	0.0480	0.0507	0.0272	0.0148	0.0502	0.0056	0.0809	0.0354	0.0140	0.0284	0.0243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	582.79	22	chr5	80654908	.	G	GCAGCGCCCC	582.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.79;DP=933;ExcessHet=0.119;FS=1.08;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=0.068;SOR=0.516	GT:AD:DP:GQ:PL	0/1:33,11:44:99:363,0,1624	17	0	2	0
chr5	88883253	88883253	-	G	intronic	MEF2C	.	.	.	Chromosome 5q14.3 deletion syndrome, Autosomal dominant;Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, Autosomal dominant	134	85	1	6	0	13	0.0710383	.	.	.	305082	not_provided|Intellectual_Disability,_Stereotypic_Movements,_Epilepsy,_and/or_Cerebral_Malformations	MedGen:C3661900|MedGen:CN239216	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1249825110	0.1544	0.0119	0.2143	0.1337	0.5000	0.1174	0.1044	0.0966	0.0834	0.5000	.	0	0.2500	0	0.2500	0.1359	0.3000	0.1905	0.2677	0.2750	0.2709	0.2643	0.3492	0.2653	0.2644	0.3441	0.3420	0.3492	0.2692	0.2994	0.2819	0.1782	0.1940	0.2180	0.2318	0.2773	0.2187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	250.2	4	chr5	88883253	.	A	AG	250.2	.	AC=7;AF=0.25;AN=28;BaseQRankSum=-0.674;DP=43;ExcessHet=0;FS=0;InbreedingCoeff=0.3693;MLEAC=7;MLEAF=0.25;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=1.04;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,3:5:43:71,0,43	10	3	1	5
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	451	281	404	386	0	1176	0.67664	.	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.546324	0.454545	0.528533	0.593567	0.550000	0.560345	0.573171	0.606061	0.5263	31326.9	142	chr5	138556481	.	G	A	31326.9	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.479;DP=1832;ExcessHet=1.9883;FS=0;InbreedingCoeff=-0.0556;MLEAC=20;MLEAF=0.526;MQ=60;MQRankSum=0;QD=18.95;ReadPosRankSum=0.509;SOR=0.711	GT:AD:DP:GQ:PL	0/1:48,60:108:99:1476,0,1197	4	5	10	0
chr5	138924626	138924626	G	A	exonic	CTNNA1	.	nonsynonymous SNV	CTNNA1:NM_001324010:exon3:c.G214A:p.V72I,CTNNA1:NM_001324012:exon4:c.G310A:p.V104I,CTNNA1:NM_001290312:exon6:c.G553A:p.V185I,CTNNA1:NM_001323987:exon6:c.G553A:p.V185I,CTNNA1:NM_001323994:exon6:c.G553A:p.V185I,CTNNA1:NM_001324001:exon6:c.G553A:p.V185I,CTNNA1:NM_001324002:exon6:c.G553A:p.V185I,CTNNA1:NM_001324004:exon6:c.G553A:p.V185I,CTNNA1:NM_001323989:exon7:c.G553A:p.V185I,CTNNA1:NM_001323991:exon7:c.G553A:p.V185I,CTNNA1:NM_001324000:exon7:c.G553A:p.V185I,CTNNA1:NM_001324008:exon7:c.G214A:p.V72I,CTNNA1:NM_001324009:exon7:c.G214A:p.V72I,CTNNA1:NM_001324013:exon7:c.G310A:p.V104I,CTNNA1:NM_001323990:exon8:c.G553A:p.V185I,CTNNA1:NM_001324003:exon8:c.G553A:p.V185I,CTNNA1:NM_001324011:exon8:c.G460A:p.V154I,CTNNA1:NM_001323988:exon9:c.G553A:p.V185I,CTNNA1:NM_001323992:exon9:c.G553A:p.V185I,CTNNA1:NM_001323993:exon9:c.G553A:p.V185I,CTNNA1:NM_001323995:exon9:c.G553A:p.V185I,CTNNA1:NM_001323996:exon9:c.G553A:p.V185I,CTNNA1:NM_001323997:exon9:c.G553A:p.V185I,CTNNA1:NM_001323998:exon9:c.G553A:p.V185I,CTNNA1:NM_001323999:exon9:c.G553A:p.V185I,CTNNA1:NM_001324005:exon9:c.G553A:p.V185I,CTNNA1:NM_001324007:exon9:c.G214A:p.V72I,CTNNA1:NM_001324006:exon10:c.G214A:p.V72I,CTNNA1:NM_001290309:exon11:c.G1354A:p.V452I,CTNNA1:NM_001323986:exon11:c.G1570A:p.V524I,CTNNA1:NM_001290307:exon12:c.G1663A:p.V555I,CTNNA1:NM_001290310:exon12:c.G1294A:p.V432I,CTNNA1:NM_001323983:exon12:c.G1663A:p.V555I,CTNNA1:NM_001323985:exon12:c.G1663A:p.V555I,CTNNA1:NM_001903:exon12:c.G1663A:p.V555I,CTNNA1:NM_001323982:exon13:c.G1663A:p.V555I,CTNNA1:NM_001323984:exon13:c.G1663A:p.V555I	Macular dystrophy, patterned, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	633408	CTNNA1-related_disorder|not_provided|Patterned_macular_dystrophy_2|Hereditary_cancer-predisposing_syndrome|not_specified	.|MedGen:C3661900|MONDO:MONDO:0012162,MedGen:C1837029,OMIM:608970,Orphanet:99001|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.156	0.0102486228906	.	0.000199681	9.044e-05	0	0.0002	0.0003	0	1.813e-05	0	0.0003	6.47e-05	10	154602	rs201877485	2.19e-05	2.326e-05	2.043e-05	2.339e-05	0.0002	1.585e-05	1.357e-05	0.0001	0.0001	0	0.0002	0	5.039e-05	0	0	3.598e-06	1.657e-05	0.0002	1.313e-05	1.312e-05	1.285e-05	1.343e-05	6.536e-05	2.18e-06	8.2e-07	.	.	0	0	6.536e-05	0	0	0	0	1.47e-05	0	0	0.375	0.11994	T	0.363	0.17217	T	0.06	0.23119	B	0.01	0.20508	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.76	0.19266	N	0.8	0.48769	T	-0.42	0.14193	N	0.303	0.38335	-1.0657	0.10386	T	0.107	0.38955	T	10	0.097353935	0.17527	T	0.010249	0.26566	T	0.156	0.40720	.	.	0.505123781055	0.50150	0.6497396599705746	0.64909	0.808570310498	0.66628	0.741013944149	0.73123	T	0.021731	0.60479	T	-0.258566	0.13068	T	-0.315702	0.43045	T	0.0477290905329558	0.05096	T	0.810419	0.46176	T	0.2068134	0.42868	0.18845247	0.42136	0.2068134	0.42868	0.18845247	0.42135	-8.552	0.69745	D	0.2506595365716813	0.33923	0.141	0.35477	B	.;.;.;.	.;.;.;.	3.946603	0.57785	23.9	0.99097774927682769	0.52396	0.99100	0.91225	D	AEFGBI	0.935675	0.93088	D	-0.0521733877039411	0.39505	2.33078	0.119037976654702	0.45524	2.813965	0.999999999999471	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	8.137000	0.89516	11.934000	0.99956	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	19.720	0.96134	518	0.74548	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1044.33	35	chr5	138924626	.	G	A	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=728;ExcessHet=0;FS=0.766;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.89;SOR=0.586	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1058,0,1172	18	0	1	0
chr5	157463249	157463249	C	T	exonic	NIPAL4	.	synonymous SNV	NIPAL4:NM_001099287:exon2:c.C193T:p.L65L,NIPAL4:NM_001172292:exon2:c.C379T:p.L127L	Ichthyosis, congenital, autosomal recessive 6, Autosomal recessive	1	1497	24	0	0	24	0.00795229	.	.	.	298543	Autosomal_recessive_congenital_ichthyosis_6|not_provided	MONDO:MONDO:0012847,MedGen:C2677065,OMIM:612281,Orphanet:313,Orphanet:79394|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	.	0.0007	0.0002	0.0019	0	0	0.0007	0.0022	0.0006	0.0006404	99	154602	rs374829524	0.0007	0.0007	0.0006	0.0007	0.0210	0.0006	0.0006	0.0179	0.0168	0.0005	0.0017	0.0013	0	5.618e-05	0.0210	0.0005	0.0013	0.0009	0.0007	0.0007	0.0008	0.0007	0.0015	0.0006	0.0006	0.0010	0.0009	4.812e-05	0.0143	0.0015	0.0009	0	0	0.0171	0.0008	0.0024	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.023162	0.035354	0.029891	0.029240	0.000000	0.051724	0.009146	0.000000	0.02632	1211.33	34	chr5	157463249	.	C	T	1211.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=739;ExcessHet=0;FS=0.759;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=1.1;SOR=0.846	GT:AD:DP:GQ:PL	0/1:65,45:110:99:1225,0,1838	18	0	1	0
chr5	177093242	177093242	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_001354984:exon9:c.G1162A:p.G388R,FGFR4:NM_002011:exon9:c.G1162A:p.G388R,FGFR4:NM_213647:exon9:c.G1162A:p.G388R	.	415	588	404	115	0	634	0.350276	.	.	.	31365	Cancer_progression_and_tumor_cell_motility|See_cases|FGFR4-related_disorder|not_specified	MedGen:C4016099|.|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	.	0.2423	0.299521	0.3210	0.1323	0.4337	0.4495	0.3358	0.3029	0.3112	0.3580	0.309718	47883	154602	rs351855	0.3062	0.3062	0.3051	0.3073	0.4369	0.3054	0.3051	0.4315	0.4292	0.1286	0.4070	0.3161	0.4369	0.3292	0.2908	0.2980	0.3088	0.3500	0.2682	0.2685	0.2646	0.2721	0.4490	0.2660	0.2651	0.4337	0.4275	0.1329	0.2719	0.3301	0.3207	0.4490	0.3254	0.2245	0.3048	0.2718	0.3663	0.12	0.27904	T	0.358	0.17064	T	0.998	0.73220	D	0.7	0.54153	P	0.005687	0.32589	N	0.316526	0.0177303	0.81001	P	1.5	0.37844	L	-1.67	0.82806	D	-0.16	0.09460	N	0.469	0.50508	-0.8840	0.49440	T	0.000	0.00011	T	9	0.0041104257	0.00081	T	.	.	.	0.519	0.79522	0.255	0.19533	.	.	0.7522868110974598	0.75175	0.827512574282	0.67481	0.476968705654	0.35640	T	0.259171	0.63041	T	-0.237093	0.15723	T	0.0304758	0.72308	D	0.0179416488997758	0.00520	T	0.631737	0.24648	T	0.10127284	0.23920	0.10703784	0.25763	0.10127284	0.23920	0.1078294	0.25965	-4.362	0.29037	T	.	.	0.313	0.60805	B	.;.	.;.	4.760676	0.76968	26.6	0.99879957222399041	0.95653	0.97395	0.74477	D	AEFDGBCI	0.850981	0.76783	D	0.164708132140378	0.49509	3.150608	0.211651071616305	0.50492	3.240753	0.999999535481989	0.74766	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	4.29	4.29	0.50359	6.850000	0.75217	6.632000	0.56155	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0906:0.0:0.9094:0.0	11.212	0.48035	835	0.38313	.;.	FGFR4|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|RGS14|PRELID1|FGFR4|RGS14|FGFR4|RGS14|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|UIMC1|RGS14|FGFR4|FGFR4|PRELID1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood	.	.	rs351855	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.283988	0.252525	0.250000	0.336257	0.400000	0.275862	0.240854	0.363636	0.4211	26088.0	152	chr5	177093242	.	G	A	26088.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.67;DP=1763;ExcessHet=6.1876;FS=0;InbreedingCoeff=-0.2955;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-0.497;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,64:116:99:.:.:1935,0,1257:.	5	2	12	0
chr6	6318562	6318562	C	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon2:c.G103T:p.V35L	Factor XIIIA deficiency, Autosomal recessive	18	1151	323	30	0	383	0.142644	.	.	.	31571	not_specified|not_provided|Factor_XIII,_A_subunit,_deficiency_of|Myocardial_infarction,_protection_against|Venous_thrombosis,_protection_against	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331|MedGen:C3277063|MedGen:C2751120	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.216	.	0.2281	0.147764	0.2059	0.1840	0.2566	0.0006	0.2123	0.2486	0.2126	0.1163	0.204499	31616	154602	rs5985	0.2350	0.2350	0.2386	0.2313	0.2581	0.2343	0.2340	0.2573	0.2570	0.1795	0.2536	0.1703	0.0008	0.2069	0.1336	0.2581	0.2120	0.1164	0.2150	0.2153	0.2200	0.2098	0.2557	0.2131	0.2123	0.2525	0.2512	0.1844	0.3717	0.2302	0.1696	0.0023	0.2059	0.1258	0.2557	0.2075	0.1167	1.0	0.53172	T	0.428	0.13792	T	.	.	.	.	.	.	0.549870	0.11447	N	0.784671	1	0.08975	P	.	.	.	-2.06	0.85875	D	-0.27	0.47683	N	0.018	0.00252	-1.0984	0.04290	T	0.089	0.34160	T	9	0.0058254898	0.00130	T	.	.	.	0.216	0.50959	0.521	0.62368	.	.	0.251286304130597	0.25042	0.218364611194	0.24371	0.279310077429	0.07396	T	0.006489	0.05922	T	-0.532642	0.00371	T	-0.394059	0.34077	T	0.000545350228055955	0.00005	T	0.29797	0.05545	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.04847	B	.;.;.	.;.;.	-1.135760	0.00599	0.015	0.36128701424949611	0.02307	0.01153	0.04166	N	AEFDBI	0.092907	0.18803	N	-1.50731017501558	0.01801	0.07894147	-1.43471435441821	0.02911	0.1348284	0.99996711313162	0.48965	0.615465	0.37627	0	0.633656	0.55848	0	0.535252	0.11790	0	0.542086	0.14980	0	.	.	4.64	1.89	0.24700	-0.148000	0.10203	-0.167000	0.11264	-1.952000	0.00483	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0869:0.1605:0.5922:0.1605	4.197	0.09908	975	0.05339	.;.;.	.	.	.	.	rs5985	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.125256	0.095745	0.116848	0.130178	0.350000	0.129310	0.136943	0.114504	0.1579	6592.4	33	chr6	6318562	.	C	A	6592.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.586;DP=986;ExcessHet=2.0135;FS=0.523;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.146;SOR=0.62	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1085,0,935	13	0	6	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	5	101	508	907	1	2323	0.919968	.	.	.	54134	Woolly_hair-skin_fragility_syndrome|not_provided|DSP-related_disorder|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Cardiovascular_phenotype|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|.|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.767875	0.792929	0.766304	0.698830	0.800000	0.810345	0.829268	0.704545	0.7632	213407.0	523	chr6	7585734	.	G	C	213407.0	.	AC=29;AF=0.763;AN=38;BaseQRankSum=1.92;DP=8493;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=25.96;ReadPosRankSum=0.206;SOR=0.669	GT:AD:DP:GQ:PL	1/1:0,442:442:99:15003,1327,0	1	11	7	0
chr6	15593088	15593088	-	A	intronic	DTNBP1	.	.	.	Hermansky-Pudlak syndrome 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299547	not_provided|not_specified|Hermansky-Pudlak_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1750	0.2290	0.1567	0.2439	0.1055	0.1306	0.1648	0.2463	0.0002305	6	26028	rs199770715	0.2097	0.2189	0.2101	0.2093	0.2861	0.2090	0.2087	0.2813	0.2793	0.2759	0.1805	0.1867	0.2861	0.1271	0.2397	0.2068	0.2173	0.2499	0.1777	0.1747	0.1766	0.1789	0.3401	0.1758	0.1750	0.3264	0.3209	0.2501	0.0721	0.1769	0.1399	0.3401	0.0776	0.1556	0.1316	0.1878	0.2487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2032.49	24	chr6	15593088	.	G	GA	2032.49	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.372;DP=1134;ExcessHet=20.8569;FS=0.585;InbreedingCoeff=-0.6474;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=-0.358;SOR=0.76	GT:AD:DP:GQ:PL	0/1:37,19:62:99:292,0,826	15	0	4	0
chr6	16327685	16327687	TGC	-	exonic	ATXN1	.	nonframeshift deletion	ATXN1:NM_001128164:exon7:c.624_626del:p.Q208del,ATXN1:NM_000332:exon8: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	13328.5	41	chr6	16327684	.	ATGC	A	13328.5	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.554;DP=1396;ExcessHet=6.1876;FS=1.778;InbreedingCoeff=-0.2955;MLEAC=3;MLEAF=0.079;MQ=59.98;MQRankSum=0;QD=20.63;ReadPosRankSum=0.467;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,22:58:99:0|1:16327684_ATGC_*:1133,0,1165:16327684	16	0	3	0
chr6	26090951	26090951	C	G	exonic	HFE	.	nonsynonymous SNV	HFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_001384164:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D	Hemochromatosis, Autosomal recessive	2	1194	302	24	0	350	0.127831	.	.	YES	15049	Familial_porphyria_cutanea_tarda|Hemochromatosis_type_1|TRANSFERRIN_SERUM_LEVEL_QUANTITATIVE_TRAIT_LOCUS_2|Variegate_porphyria|Microvascular_complications_of_diabetes,_susceptibility_to,_7|Alzheimer_disease|See_cases|Cystic_fibrosis|not_provided|Cardiomyopathy|Bronze_diabetes|Hereditary_hemochromatosis|not_specified	MONDO:MONDO:0008296,MedGen:C0268323,OMIM:176100,Orphanet:101330,Orphanet:443062|MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:139498,Orphanet:465508|MedGen:C3280096,OMIM:614193|MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473|MONDO:MONDO:0012971,MedGen:C2673520,OMIM:612635|Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020|.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C0018995|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.315	.	0.1107	0.0730831	0.1066	0.0290	0.0959	0.0365	0.1031	0.1368	0.1300	0.0779	0.109171	16878	154602	rs1799945	0.1351	0.1352	0.1361	0.1341	0.1501	0.1346	0.1344	0.1495	0.1493	0.0276	0.1031	0.1163	0.0312	0.1058	0.1222	0.1501	0.1248	0.0795	0.1015	0.1017	0.1038	0.0991	0.1503	0.1002	0.0996	0.1479	0.1469	0.0296	0.0724	0.1099	0.1208	0.0269	0.0959	0.1054	0.1503	0.1297	0.0773	0.016	0.51853	D	0.146	0.40426	T	0.147	0.64070	B	0.083	0.62698	B	0.346540	0.13882	N	0.680049	1	0.08975	P	1.79	0.46772	L	-2.42	0.88611	D	-1.23	0.45769	N	0.299	0.37301	0.103	0.84222	D	0.631	0.87050	D	9	0.0015847087	0.00018	T	.	.	.	0.315	0.63694	.	.	.	.	0.9919645876196251	0.99192	0.986908435057	0.73940	0.511884570122	0.40485	T	0.131905	0.46168	T	-0.287491	0.09890	T	-0.0676057	0.65796	T	0.012003537063212	0.00189	T	0.564244	0.19889	T	0.44828805	0.63933	0.3678599	0.62087	0.5796515	0.71590	0.30211145	0.56242	-3.758	0.33991	T	0.5987737628714522	0.66574	0.333	0.67715	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.087160	0.41550	21.4	0.98505846847621126	0.42276	0.07898	0.13886	N	AEFDBI	0.078262	0.15787	N	-0.213524220581138	0.32577	1.838779	-0.257839665235987	0.29501	1.653376	0.989988003865806	0.31999	0.623552	0.39893	0	0.588066	0.40923	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	5.3	3.51	0.39297	1.868000	0.39146	3.701000	0.39526	0.599000	0.40250	0.744000	0.29069	1.000000	0.68203	0.993000	0.69303	0.175:0.7358:0.0:0.0892	6.685	0.22327	500	0.76024	.;.;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;.;.;MHC class I-like antigen recognition-like	U91328.19|HFE|BTN2A3P|SLC17A1|SLC17A3|GUSBP2|HFE|HFE|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HFE|HFE|HIST1H3E|HFE|HFE|HIST1H3E|SLC17A3|HFE|RP11-457M11.5|HIST1H3E|HFE|HIST1H3E|HFE|HFE|HFE|HFE|HFE|HIST1H3E|TRIM38|HFE|HIST1H3E|HIST1H3E	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	HFE	Cells_Cultured_fibroblasts	rs1799945	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.119839	0.181818	0.100543	0.166667	0.000000	0.155172	0.121951	0.079545	0.2105	12003.2	37	chr6	26090951	.	C	G	12003.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.773;DP=1300;ExcessHet=0.6689;FS=1.101;InbreedingCoeff=0.05;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-0.604;SOR=0.809	GT:AD:DP:GQ:PL	0/1:64,67:131:99:1735,0,1552	12	1	6	0
chr6	32039081	32039081	C	A	UTR5	CYP21A2	NM_001368143:c.-126C>A;NM_001368144:c.-126C>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	9	182	648	678	5	2009	0.846284	.	.	YES	193439	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	0.6293	0.650759	0.7060	0.7281	0.7932	0.7161	0.6224	0.7014	0.6834	0.6705	0.588071	90917	154602	rs6467	0.5950	0.5925	0.5939	0.5962	0.7333	0.5940	0.5935	0.7265	0.7237	0.6439	0.7333	0.6468	0.6576	0.4707	0.6835	0.5882	0.6013	0.6165	0.6088	0.6089	0.6127	0.6048	0.7113	0.6055	0.6042	0.7001	0.6955	0.6364	0.6394	0.7113	0.6359	0.6316	0.4363	0.6130	0.5918	0.6460	0.5973	0.313	0.13879	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-0.3	0.67874	T	0.4	0.03463	N	.	.	-1.0318	0.19873	T	0.093	0.35444	T	5	1.7294652e-06	0.00003	T	.	.	.	0.034	0.08419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.636234	0.00088	T	-0.542863	0.18016	T	0.00180369962629931	0.00018	T	0.226077	0.02982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05535	B	.	.	0.164705	0.05545	2.006	0.43740471587862012	0.03314	0.00179	0.01050	N	AEFBI	0.087333	0.17709	N	-1.19446011224149	0.05083	0.2309094	-1.36986281538789	0.03577	0.1671443	1.13245368839307E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	3.06	-0.591	0.11090	-0.233000	0.09056	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1987:0.5349:0.1383:0.1281	3.239	0.06373	923	0.18507	.	TCF19|C4A|CYP21A2|HLA-DRB9|HLA-DRB5|C4A|CYP21A1P|TNXA|HLA-DRB5|TNXA|CFB|MICB|C6orf48|CFB|C4A|CYP21A1P|HLA-DRB5|MICB|C4A|C4A|HLA-DRB9|HLA-DRB5|HLA-DOB|HLA-DMB|MICB|DDAH2|C4A|C4B|PSMB9|HLA-DRB5|HLA-DRB5|C4A|HLA-DRB5|PSORS1C1|MICB|LY6G6C|C4A|HLA-DRB5|C4A|C4A|HLA-DRB5|HLA-DRB5|MICB|TNXA|HLA-DRB5|MICB|C4A|HLA-DRB5|C4A|CYP21A1P|HLA-DRB5|C4A|TNXA|CYP21A2|HLA-DRB5|C6orf48|C4A|C4B|HLA-DRB5|MICB|MSH5|C6orf48|C4A|C4B|HLA-DRB5|C4A|TNXA|TAP1|HCG22|MICB|C4A|CYP21A1P|HLA-DRB9|HLA-DRB5|HLA-DMA|C4A|C4A|C4B|HLA-DRB5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	DXO|HLA-DRB5|HLA-DRB6|HLA-DRB1|VARS|VARS|C6orf15|CDSN|DXO|HLA-DQA1|DXO|CYP21A1P|CYP21A2	Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Cerebellum|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis	rs6467	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.7105	33397.6	78	chr6	32039081	.	C	A	33397.6	.	AC=27;AF=0.711;AN=38;BaseQRankSum=-0.074;DP=1336;ExcessHet=2.8258;FS=2.779;InbreedingCoeff=-0.1515;MLEAC=27;MLEAF=0.711;MQ=60;MQRankSum=0;QD=26.38;ReadPosRankSum=0.296;SOR=0.447	GT:AD:DP:GQ:PL	0/1:13,60:73:99:1831,0,178	1	9	9	0
chr6	32043548	32043548	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G826A:p.G276S,TNXB:NM_001365276:exon36:c.G11539A:p.G3847S,TNXB:NM_019105:exon36:c.G11533A:p.G3845S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	46	1439	32	5	0	42	0.0143836	.	.	.	1683144	See_cases|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.137	.	0.0018	0.00339457	0.0068	0.0016	0.0103	0.0017	0.0003	0.0063	0.0075	0.0139	0.0007684	20	26028	rs199688928	0.0039	0.0035	0.0034	0.0043	0.0194	0.0038	0.0037	0.0155	0.0140	0.0004	0.0055	0.0097	0.0003	0.0002	0.0194	0.0032	0.0058	0.0100	0.0032	0.0034	0.0027	0.0037	0.0095	0.0029	0.0028	0.0069	0.0061	0.0005	0	0.0078	0.0082	0.0014	0	0.0106	0.0035	0.0052	0.0095	0.298	0.18000	T	0.0	0.92824	D	.	.	.	.	.	.	0.000500	0.43931	D	0.101185	1	0.81001	D	.	.	.	0.5	0.55608	T	-4.0	0.81269	D	0.428	0.46742	-1.0719	0.09001	T	0.091	0.34847	T	10	0.009701818	0.00218	T	.	.	.	0.137	0.36984	.	.	0.316918214084	0.31302	0.4136048951951291	0.41276	1.07586337657	0.76961	0.59685254097	0.52460	T	0.064485	0.32447	T	-0.471116	0.00837	T	-0.442537	0.28526	T	0.0281921996046609	0.01716	T	0.668433	0.72366	T	0.20872347	0.43117	0.20812012	0.45100	0.20204142	0.42235	0.19100328	0.42534	-6.141	0.47444	T	0.12400312571121505	0.12101	0.297	0.52728	B	.;.;.;.;.	.;.;.;.;.	4.120674	0.61586	24.4	0.9950172087484398	0.68089	0.75628	0.37039	D	AEFGBI	0.269367	0.38566	N	0.186475487493959	0.50551	3.243918	0.191575787999785	0.49384	3.142268	0.170872636974423	0.17733	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.44	4.51	0.54589	2.440000	0.44513	.	.	0.599000	0.40250	0.294000	0.25270	1.000000	0.68203	0.696000	0.34018	0.0:0.8166:0.1834:0.0	11.335	0.48734	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020742	0.010204	0.012228	0.042553	0.000000	0.017241	0.030675	0.026515	0.02632	192.36	11	chr6	32043548	.	C	T	192.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.62;DP=275;ExcessHet=0;FS=0;InbreedingCoeff=-0.0293;MLEAC=1;MLEAF=0.026;MQ=38.64;MQRankSum=1.07;QD=10.12;ReadPosRankSum=-0.132;SOR=0.223	GT:AD:DP:GQ:PL	0/1:13,6:19:99:206,0,423	18	0	1	0
chr6	33178983	33178983	C	G	intronic	COL11A2	.	.	.	Deafness, autosomal dominant 13, Autosomal dominant;Deafness, autosomal recessive 53, Autosomal recessive;Fibrochondrogenesis 2, Autosomal recessive, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Stickler syndrome, type III, Autosomal dominant;Weissenbacher-Zweymuller syndrome, Autosomal dominant	0	1516	6	0	0	6	0.00197498	0.0009	0.002	.	229466	not_specified|Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant|Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive|Fibrochondrogenesis_2|not_provided|Connective_tissue_disorder|Stickler_Syndrome,_Dominant	MedGen:CN169374|MONDO:MONDO:0008490,MedGen:C1848488,OMIM:184840,Orphanet:166100,Orphanet:3450|MONDO:MONDO:0044206,MedGen:C5551484,OMIM:215150,Orphanet:1427|MONDO:MONDO:0013795,MedGen:C3281128,OMIM:614524,Orphanet:2021|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN239460	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0012	0.00179712	0.0012	0.0001	8.696e-05	0	0.0044	0.0012	0	0.0020	0.0011707	181	154602	rs182657680	0.0012	0.0012	0.0012	0.0013	0.0019	0.0012	0.0011	0.0014	0.0013	5.974e-05	0.0003	7.653e-05	0	0.0027	0.0019	0.0013	0.0007	0.0016	0.0012	0.0012	0.0009	0.0014	0.0025	0.0010	0.0010	0.0014	0.0011	9.631e-05	0.0132	0.0003	0	0.0004	0.0043	0	0.0014	0.0014	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1527.33	34	chr6	33178983	.	C	G	1527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.526;DP=792;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.408;SOR=0.603	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1541,0,1665	18	0	1	0
chr6	42963890	42963893	TTTA	-	UTR3	PEX6	NM_001316313:c.*445_*442delTAAA;NM_000287:c.*445_*442delTAAA	.	.	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	639	398	139	346	0	831	0.510756	.	.	.	300174	not_provided|PEX6_POLYMORPHISM|not_specified|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.647364	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs144286892	0.5727	0.5907	0.5681	0.5768	0.9184	0.5710	0.5703	0.9056	0.9003	0.9184	0.5473	0.5051	0.3599	0.5005	0.6168	0.5761	0.5928	0.6450	0.6587	0.6629	0.6658	0.6513	0.9162	0.6553	0.6538	0.9083	0.9051	0.9162	0.6826	0.5830	0.5087	0.3234	0.5061	0.5810	0.5796	0.6463	0.6385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	2126.6	5	chr6	42963889	.	GTTTA	G	2126.6	.	AC=22;AF=0.579;AN=38;BaseQRankSum=-0.524;DP=118;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.2455;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=30.38;ReadPosRankSum=-1.036;SOR=1.3	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0	5	8	6	0
chr6	131847856	131847856	-	GT	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	.	.	.	.	.	.	.	.	.	306046	Arterial_calcification,_generalized,_of_infancy,_1|not_provided|Hypophosphatemic_Rickets,_Recessive|not_specified	MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MedGen:C3661900|MedGen:CN239452|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0099124	258	26028	rs879243445	0.1164	0.1420	0.1109	0.1218	0.2260	0.1159	0.1156	0.2219	0.2202	0.0541	0.1701	0.1677	0.2260	0.1618	0.1174	0.1025	0.1337	0.1540	0.2005	0.2032	0.1967	0.2045	0.3235	0.1985	0.1977	0.3101	0.3047	0.0963	0.1496	0.2623	0.2420	0.3235	0.2116	0.2176	0.2296	0.2147	0.2345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	3351.19	17	chr6	131847856	.	G	GGT	3351.19	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0;DP=625;ExcessHet=3.6106;FS=4.874;InbreedingCoeff=-0.1737;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.168;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,10:20:99:.:.:679,276,215:.	11	0	8	0
chr6	131851228	131851228	A	C	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon4:c.A517C:p.K173Q	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	2	993	455	72	0	599	0.231721	.	.	YES	28628	Obesity|Hypopigmentation-punctate_palmoplantar_keratoderma_syndrome|Insulin_resistance,_susceptibility_to|Type_2_diabetes_mellitus|not_provided|Hypophosphatemic_rickets|Diabetes_mellitus_type_2,_susceptibility_to|Hypophosphatemic_rickets,_autosomal_recessive,_2|Arterial_calcification,_generalized,_of_infancy,_1|Inherited_obesity|ENPP1-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529|MONDO:MONDO:0014227,MedGen:C3809781,OMIM:615522,Orphanet:324561|MedGen:C1852091|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375|MedGen:C3837967|MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	.	0.3502	0.342252	0.2063	0.7833	0.1748	0.0993	0.1346	0.1522	0.1751	0.1698	0.0048025	125	26028	rs1044498	0.1615	0.1616	0.1636	0.1594	0.7978	0.1610	0.1608	0.7898	0.7865	0.7978	0.1927	0.2216	0.0933	0.1280	0.2302	0.1406	0.1991	0.1710	0.3286	0.3290	0.3348	0.3222	0.7756	0.3262	0.3252	0.7685	0.7655	0.7756	0.3158	0.2446	0.2323	0.0942	0.1217	0.2347	0.1422	0.2955	0.1774	0.315	0.13789	T	0.379	0.16037	T	0.072	0.23997	B	0.068	0.27651	B	0.587550	0.11081	N	0.811774	1	0.08975	P	1.81	0.47622	L	0.95	0.43279	T	-1.57	0.37955	N	0.031	0.00770	-1.0817	0.07022	T	0.051	0.21689	T	9	9.3244637e-07	0.00003	T	.	.	.	0.055	0.15663	.	.	.	.	0.5922575994283148	0.59155	0.222986614552	0.24826	0.243391931057	0.03104	T	0.403814	0.76046	T	-0.729824	0.00024	T	-0.677298	0.07149	T	0.0158636155010768	0.00372	T	0.369163	0.08660	T	0.08555309	0.19849	0.05395216	0.09186	0.0991331	0.23392	0.07375446	0.16063	-3.387	0.14882	T	0.2569421100413521	0.34729	0.068	0.02927	B	.;.	.;.	1.664263	0.21222	15.10	0.93115564684636221	0.22749	0.05113	0.10917	N	AEFBIJ	0.105389	0.21059	N	-0.736100686356782	0.15014	0.7529111	-0.6970689374069	0.17033	0.9038945	0.375294786666874	0.19909	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.55	3.39	0.37919	1.445000	0.34690	2.351000	0.32314	-0.234000	0.07639	0.003000	0.16062	0.006000	0.19429	0.928000	0.46473	0.8272:0.1728:0.0:0.0	14.335	0.66145	833	0.38804	Somatomedin B domain|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain	ENPP1	Pancreas	.	.	rs1044498	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.261833	0.328283	0.322011	0.283626	0.300000	0.181034	0.176829	0.151515	0.1316	6346.37	34	chr6	131851228	.	A	C	6346.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.096;DP=1006;ExcessHet=1.3;FS=1.108;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.01;SOR=0.791	GT:AD:DP:GQ:PL	0/1:40,63:103:99:1544,0,986	14	0	5	0
chr7	5999198	5999198	C	A	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon4:c.G297T:p.Q99H,PMS2:NM_001322004:exon5:c.G210T:p.Q70H,PMS2:NM_001322007:exon5:c.G297T:p.Q99H,PMS2:NM_001322010:exon5:c.G210T:p.Q70H,PMS2:NM_000535:exon6:c.G615T:p.Q205H,PMS2:NM_001322003:exon6:c.G210T:p.Q70H,PMS2:NM_001322005:exon6:c.G210T:p.Q70H,PMS2:NM_001322006:exon6:c.G615T:p.Q205H,PMS2:NM_001322009:exon6:c.G210T:p.Q70H,PMS2:NM_001322014:exon6:c.G615T:p.Q205H,PMS2:NM_001322015:exon6:c.G306T:p.Q102H	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	0	1520	1	1	0	3	0.000985869	.	.	YES	233567	Hereditary_nonpolyposis_colorectal_neoplasms|not_provided|Lynch_syndrome|Lynch_syndrome_4|Mismatch_repair_cancer_syndrome_4|Hereditary_cancer-predisposing_syndrome	MeSH:D003123,MedGen:C0009405|MedGen:C3661900|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.379	0.0768661380377	.	.	3.295e-05	0	0	0	0	4.495e-05	0	6.056e-05	2.59e-05	4	154602	rs752499497	9.577e-06	9.577e-06	9.529e-06	9.626e-06	8.115e-05	5.56e-06	4.35e-06	3.765e-05	2.662e-05	0	0	0	0	1.872e-05	0	3.597e-06	3.312e-05	8.115e-05	1.315e-05	1.314e-05	0	2.692e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.161	0.23631	T	0.231	0.26798	T	1.0	0.90584	D	0.977	0.92359	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.86	0.49225	L	-0.78	0.73631	T	-2.73	0.66325	D	0.771	0.77507	-0.2984	0.75029	T	0.468	0.79476	T	10	0.35535797	0.52299	T	0.076866	0.72635	D	0.379	0.69696	0.412	0.44887	0.872992548276	0.87175	0.6693669094656114	0.66874	0.259186231862	0.28475	0.471287369728	0.34858	T	0.305663	0.67790	T	-0.0454513	0.45136	T	-0.20621	0.54058	T	0.806205451488495	0.46781	D	0.89771	0.67517	D	0.6285453	0.74221	0.24311186	0.49748	0.6285453	0.74222	0.24311186	0.49746	-5.756	0.44452	T	0.5603961443245065	0.62820	0.263	0.55327	B	.;.;.;.;.;.	.;.;.;.;.;.	3.719787	0.53147	23.3	0.99636365464119547	0.76387	0.89127	0.49408	D	AEFGBI	0.269606	0.38585	N	0.323429285088389	0.57352	3.902298	0.285350104000573	0.54683	3.632586	0.00107282708764821	0.08194	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.65	2.88	0.32617	0.748000	0.25970	1.336000	0.25703	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.0:0.568:0.1522:0.2798	5.253	0.14849	867	0.32089	DNA mismatch repair protein family, N-terminal;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1556.33	42	chr7	5999198	.	C	A	1556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.073;DP=905;ExcessHet=0;FS=3.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.203;SOR=0.588	GT:AD:DP:GQ:PL	0/1:65,58:123:99:1570,0,1753	18	0	1	0
chr7	16278234	16278234	-	A	intronic	CRPPA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	195281	not_provided|Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7|not_specified	MedGen:C3661900|MedGen:CN239202|MONDO:MONDO:0014474,MedGen:C5190987,OMIM:616052,Orphanet:352479|MONDO:MONDO:0013835,MedGen:C3553330,OMIM:614643,Orphanet:899|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0748	.	0.0735	0.1873	0.0511	0.0304	0.0238	0.0680	0.0732	0.0573	0.0047641	124	26028	rs3839757	0.0412	0.0543	0.0405	0.0420	0.1580	0.0409	0.0408	0.1537	0.1520	0.1580	0.0402	0.1747	0.0316	0.0254	0.0891	0.0345	0.0578	0.0441	0.0699	0.0694	0.0714	0.0683	0.1606	0.0688	0.0683	0.1573	0.1560	0.1606	0.0322	0.0442	0.1694	0.0192	0.0192	0.0552	0.0290	0.0733	0.0390	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	2487.34	25	chr7	16278234	.	T	TA	2487.34	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.215;DP=791;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.2083;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-0.437;SOR=0.657	GT:AD:DP:GQ:PL	0/1:20,31:54:99:665,0,426	14	1	4	0
chr7	30633897	30633897	A	-	UTR3	GARS1	NM_001316772:c.*37delA;NM_002047:c.*37delA	.	.	.	.	.	.	.	.	.	.	.	.	.	311094	Peripheral_axonal_neuropathy|not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2	Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4340	0.3441	0.4374	0.3782	0.4914	0.4724	0.4415	0.3535	0.0001153	3	26028	rs70983380	0.4481	0.4561	0.4506	0.4455	0.4627	0.4470	0.4466	0.4612	0.4607	0.3255	0.4260	0.4633	0.3725	0.4512	0.4627	0.4624	0.4401	0.3583	0.5853	0.5832	0.5905	0.5799	0.6886	0.5820	0.5807	0.6833	0.6812	0.4015	0.7719	0.5987	0.7201	0.4922	0.6382	0.6586	0.6886	0.5897	0.4457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	7387.91	11	chr7	30633896	.	TA	T	7387.91	.	AC=15;AF=0.441;AN=34;BaseQRankSum=0.834;DP=713;ExcessHet=6.1876;FS=0;InbreedingCoeff=-0.4249;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=0.087;SOR=0.673	GT:AD:DP:GQ:PL	0/1:14,19:41:99:404,0,278	4	2	11	2
chr7	56019599	56019599	C	-	splicing	PSPH	NM_001370504:exon5:c.275+1G>-;NM_004577:exon5:c.275+1G>-;NM_001370519:exon6:c.275+1G>-;NM_001370508:exon7:c.275+1G>-;NM_001370507:exon6:c.275+1G>-;NM_001370503:exon5:c.275+1G>-;NM_001370506:exon6:c.275+1G>-;NM_001370505:exon6:c.275+1G>-;NM_001370521:exon7:c.275+1G>-;NM_001370520:exon7:c.275+1G>-;NM_001370522:exon6:c.275+1G>-;NM_001370511:exon6:c.275+1G>-;NM_001370510:exon4:c.275+1G>-;NM_001370509:exon4:c.275+1G>-;NM_001370518:exon8:c.275+1G>-;NM_001370517:exon7:c.275+1G>-;NM_001370516:exon6:c.275+1G>-;NM_001370515:exon6:c.275+1G>-;NM_001370514:exon5:c.275+1G>-;NM_001370513:exon6:c.275+1G>-;NM_001370512:exon5:c.275+1G>-	.	.	Phosphoserine phosphatase deficiency, Autosomal recessive	0	1113	409	0	0	409	0.155218	.	.	.	389820	not_provided|Neurometabolic_disorder_due_to_serine_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0018162,MedGen:C5680148,Orphanet:35705|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.0173	0.0010	0.0043	0.0025	0.0014	0.0045	0.0154	0.0112571	293	26028	rs139106189	0.0280	0.1150	0.0264	0.0296	0.2882	0.0277	0.0276	0.2824	0.2801	0.2458	0.0506	0.0260	0.2882	0.0782	0.0707	0.0123	0.0428	0.0570	0.2421	0.2770	0.2385	0.2459	0.4694	0.2399	0.2390	0.4634	0.4610	0.4694	0.0600	0.2217	0.1153	0.4012	0.1785	0.1468	0.1173	0.2195	0.2924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2466.13	26	chr7	56019598	.	AC	A	2466.13	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.03;DP=613;ExcessHet=6.9875;FS=14.75;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=59.4;MQRankSum=-1.455;QD=7.03;ReadPosRankSum=-0.789;SOR=1.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,9:38:99:0|1:56019585_C_A:291,0,1191:56019585	9	0	10	0
chr7	75986234	75986234	G	A	exonic	POR	.	nonsynonymous SNV	POR:NM_001382662:exon14:c.G1741A:p.V581I,POR:NM_000941:exon15:c.G1891A:p.V631I,POR:NM_001382659:exon15:c.G1891A:p.V631I,POR:NM_001367562:exon16:c.G1891A:p.V631I,POR:NM_001382655:exon16:c.G1945A:p.V649I,POR:NM_001382657:exon16:c.G1891A:p.V631I,POR:NM_001382658:exon16:c.G1891A:p.V631I	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Autosomal recessive;Disordered steroidogenesis due to cytochrome P450 oxidoreductase	0	1498	23	1	0	25	0.00827541	.	.	.	268412	POR-related_disorder|Antley-Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis|Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency|not_provided	.|MONDO:MONDO:0008726,MedGen:C3150099,OMIM:201750,Orphanet:63269|MONDO:MONDO:0013310,MedGen:C1860042,OMIM:613571,Orphanet:95699|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	0.101863777252	0.0013	0.00239617	0.0017	0.0004	0.0023	0	0.0009	0.0015	0.0012	0.0045	0.0015912	246	154602	rs145782750	0.0014	0.0014	0.0013	0.0015	0.0052	0.0014	0.0014	0.0040	0.0038	0.0002	0.0022	0.0008	2.519e-05	0.0008	0.0052	0.0013	0.0017	0.0043	0.0012	0.0012	0.0014	0.0010	0.0042	0.0011	0.0010	0.0028	0.0023	0.0005	0	0.0018	0.0012	0	0.0003	0.0068	0.0015	0.0024	0.0042	0.648	0.13925	T	0.486	0.14818	T	.	.	.	.	.	.	0.000096	0.51296	D	0.133496	0.99998	0.81001	D	.	.	.	-1.31	0.79666	T	-0.39	0.13611	N	0.403	0.69913	-0.6161	0.64151	T	0.312	0.68220	T	10	0.01781547	0.00383	T	0.101864	0.77500	D	0.410	0.72176	.	.	0.786541166568	0.78456	0.2799518002776957	0.27908	0.0987441259954	0.11157	0.532380521297	0.43370	T	.	.	.	-0.177389	0.24125	T	-0.0281043	0.68494	D	0.00877987643650732	0.00108	T	0.919408	0.70943	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.16670	B	.;.;.	.;.;.	2.426501	0.31206	18.67	0.83963074634987866	0.15019	0.77817	0.38307	D	AEFDBCI	0.383177	0.46478	N	-0.288807445490312	0.29580	1.64161	-0.161039866589119	0.32986	1.882163	0.996289580345896	0.34642	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.46	3.46	0.38718	2.167000	0.42042	5.046000	0.46955	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.267000	0.23694	0.0:0.0:1.0:0.0	15.162	0.72477	601	0.67921	.;.;Oxidoreductase FAD/NAD(P)-binding|Flavoprotein pyridine nucleotide cytochrome reductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.010101	0.001359	0.008772	0.000000	0.000000	0.009146	0.007576	0.02632	1923.33	44	chr7	75986234	.	G	A	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=900;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.354;SOR=0.669	GT:AD:DP:GQ:PL	0/1:98,76:174:99:1937,0,2480	18	0	1	0
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	20506.8	40	chr7	92499847	.	CA	C	20506.8	.	AC=29;AF=0.763;AN=38;BaseQRankSum=1.13;DP=1301;ExcessHet=0.3441;FS=1.826;InbreedingCoeff=0.1244;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=0.145;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,35:62:99:.:.:1442,621,712:.	1	11	7	0
chr7	103989356	103989356	-	GCCGCC	UTR5	RELN	NM_173054:c.-1_0insGGCGGC;NM_005045:c.-1_0insGGCGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	74	331	411	457	249	1574	0.666834	.	.	.	135555	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Lissencephaly,_Recessive|not_provided|not_specified	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN239458|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.604233	0.0752	0.0333	0.0078	0.0295	0.0487	0.0216	0.1337	0.2712	0.0001153	3	26028	rs587780434	0.4279	0.4210	0.4270	0.4288	0.6345	0.4270	0.4266	0.6265	0.6232	0.4306	0.2776	0.3620	0.6345	0.3927	0.4386	0.4227	0.4408	0.5133	0.5219	0.5255	0.5206	0.5232	0.7433	0.5188	0.5175	0.7227	0.7143	0.5155	0.4234	0.5423	0.4904	0.7433	0.5017	0.5647	0.5012	0.5010	0.6741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	34711.6	68	chr7	103989356	.	T	TGCCGCC	34711.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=0.381;DP=1696;ExcessHet=1.0583;FS=0.653;InbreedingCoeff=0.0256;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=32.62;ReadPosRankSum=0.008;SOR=0.598	GT:AD:DP:GQ:PL	0/1:39,28:67:99:1004,0,1527	3	7	9	0
chr7	113878379	113878379	C	A	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.G2713T:p.D905Y	Insulin resistance, severe, digenic, Autosomal dominant	11	895	492	124	0	740	0.29249	.	.	.	23745	Type_2_diabetes_mellitus|not_provided|PPP1R3A-related_disorder|Insulin_resistance,_susceptibility_to	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|.|MedGen:C1852091	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	.	0.1353	0.308706	0.2191	0.1986	0.2675	0.6952	0.2100	0.1107	0.2252	0.3903	0.206175	31875	154602	rs1799999	0.1416	0.1416	0.1346	0.1487	0.6879	0.1411	0.1409	0.6811	0.6783	0.1968	0.2570	0.2156	0.6879	0.1937	0.1652	0.0908	0.1697	0.3887	0.1744	0.1748	0.1615	0.1879	0.6706	0.1726	0.1719	0.6519	0.6443	0.1934	0.1220	0.2144	0.2066	0.6706	0.2038	0.1429	0.0950	0.1795	0.3984	0.0	0.91255	D	0.014	0.62352	D	0.976	0.58310	D	0.72	0.54860	P	0.024511	0.26249	N	0.367148	0.836062	0.28695	P	1.83	0.48079	L	2.05	0.20664	T	-2.39	0.52612	N	0.15	0.15328	-0.9976	0.30590	T	0.000	0.00011	T	9	8.817586e-06	0.00003	T	.	.	.	0.081	0.23632	.	.	.	.	0.3683814514852102	0.36752	0.306500050531	0.32949	0.278542757034	0.07290	T	0.186598	0.53994	T	-0.528206	0.00393	T	-0.387688	0.34823	T	0.0438705692398417	0.04397	T	0.716128	0.32863	T	0.20416406	0.42517	0.2524535	0.50875	0.20416406	0.42517	0.2524535	0.50874	-4.861	0.35294	T	.	.	0.137	0.29968	B	.	.	3.069077	0.41247	21.3	0.99319784506066688	0.59355	0.95612	0.65420	D	AEFI	0.303249	0.41127	N	0.499889304589376	0.67083	5.034699	0.49068893142535	0.67370	5.075107	0.0140741971558907	0.12550	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	3.235000	0.51027	3.309000	0.37448	0.580000	0.29708	1.000000	0.71638	0.924000	0.28388	0.195000	0.21750	0.0:0.9117:0.0:0.0883	11.640	0.50488	802	0.44336	.	.	.	.	.	.	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	0.174395	0.136364	0.123641	0.166667	0.250000	0.172414	0.165644	0.295455	0.2105	19735.2	37	chr7	113878379	.	C	A	19735.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-2.988;DP=1558;ExcessHet=0.0419;FS=1.164;InbreedingCoeff=0.3667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=1.03;SOR=0.586	GT:AD:DP:GQ:PL	1/1:0,176:176:99:5671,528,0	13	2	4	0
chr7	114663436	114663436	-	T	intronic	FOXP2	.	.	.	Speech-language disorder-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177727	Inborn_genetic_diseases|Childhood_apraxia_of_speech|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3236	0.209465	0.3636	0.1063	0.2943	0.1724	0.4590	0.4369	0.3610	0.3263	0.0001153	3	26028	rs1478553257	0.3837	0.3970	0.3848	0.3826	0.4175	0.3828	0.3824	0.4164	0.4159	0.0938	0.2799	0.2759	0.1190	0.4085	0.1994	0.4175	0.3570	0.3056	0.3203	0.3199	0.3227	0.3178	0.4529	0.3179	0.3169	0.4486	0.4469	0.1010	0.3819	0.3039	0.2802	0.1440	0.4542	0.1910	0.4529	0.2949	0.3137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	8109.15	51	chr7	114663436	.	A	AT	8109.15	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.586;DP=1014;ExcessHet=2.8258;FS=1.106;InbreedingCoeff=-0.1515;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.101;SOR=0.592	GT:AD:DP:GQ:PL	0/1:29,32:61:99:716,0,635	9	1	9	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	2	82	476	962	0	2400	0.936037	.	.	.	135324	Maturity_onset_diabetes_mellitus_in_young|not_specified|Type_2_diabetes_mellitus|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.814271	0.836735	0.841033	0.835294	0.750000	0.793103	0.754601	0.746154	0.8684	64745.1	153	chr7	127611134	.	T	G	64745.1	.	AC=33;AF=0.868;AN=38;BaseQRankSum=0.533;DP=2444;ExcessHet=1.3;FS=0.784;InbreedingCoeff=-0.1515;MLEAC=33;MLEAF=0.868;MQ=60;MQRankSum=0;QD=27.18;ReadPosRankSum=-0.083;SOR=0.559	GT:AD:DP:GQ:PL	0/1:62,57:119:99:1402,0,1715	0	14	5	0
chr7	130441209	130441209	C	T	UTR5	CEP41	NM_001257159:c.-243G>A	.	.	Joubert syndrome 15, Autosomal recessive	240	1274	7	1	0	9	0.00351975	.	.	.	305059	not_provided|Joubert_syndrome	MedGen:C3661900|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0073	0	0.0143	0	.	0.0030	0.0116	0.0090	0.0012613	195	154602	rs542293061	0.0067	0.0071	0.0067	0.0067	0.0090	0.0065	0.0064	0.0087	0.0085	0.0011	0.0026	0.0005	6.299e-05	0.0060	0.0051	0.0090	0.0065	0.0054	0.0043	0.0043	0.0046	0.0041	0.0069	0.0040	0.0039	0.0064	0.0062	0.0010	0	0.0033	0.0003	0	0.0054	0.0035	0.0069	0.0064	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	126.39	7	chr7	130441209	.	C	T	126.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=215;ExcessHet=0;FS=0;InbreedingCoeff=-0.0312;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.303;SOR=0.412	GT:AD:DP:GQ:PL	0/1:6,4:10:99:140,0,215	18	0	1	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	.	2137883	PODXL-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0022	0	0	0	0	0.0001229	19	154602	rs201551993	2.992e-05	3.42e-05	2.532e-05	3.464e-05	0.0009	2.24e-05	1.987e-05	0.0007	0.0006	0	0	0	0.0009	0	0	9.242e-07	8.58e-05	3.769e-05	6.566e-05	6.562e-05	3.854e-05	9.4e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4118	3330.8	123	chr7	131505863	.	C	T	3330.8	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.702;DP=1547;ExcessHet=17.0548;FS=216.424;InbreedingCoeff=-0.6539;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.71;ReadPosRankSum=1.02;SOR=12.236	GT:AD:DP:GQ:PL	0/1:51,33:84:99:272,0,854	3	0	14	2
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	0	788	734	0	0	734	0.317749	.	.	YES	46925	not_provided|Recurrent_pancreatitis|Hereditary_pancreatitis	MedGen:C3661900|Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	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	.;.;.	.	.	.	.	.	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	0	0	0.009060	0.025974	0.000000	0.004274	0.062500	0.000000	0.031915	0.008000	0.3947	19020.8	34	chr7	142750561	.	C	T	19020.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.382;DP=2359;ExcessHet=20.8569;FS=4.813;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.13;MQRankSum=-9.393;QD=8.76;ReadPosRankSum=-0.895;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,40:147:99:0|1:142750561_C_T:1293,0,4233:142750561	4	0	15	0
chr7	142750675	142750675	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.A161G:p.N54S	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1165	357	0	0	357	0.132862	.	.	.	26920	not_specified|Hereditary_pancreatitis	MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	.	.	0.0354	0.0748	0.0127	0.0043	0.0416	0.0323	0.0528	0.0537	0.0003842	10	26028	rs144422014	0.0485	0.1673	0.0431	0.0541	0.1643	0.0482	0.0480	0.1599	0.1580	0.1117	0.1643	0.1341	0.0273	0.2064	0.0482	0.0386	0.0676	0.0350	0.2790	0.3612	0.2847	0.2732	0.3794	0.2760	0.2748	0.3726	0.3698	0.3794	0.2481	0.2697	0.2695	0.0620	0.2849	0.1951	0.2592	0.2679	0.0988	0.448	0.09075	T	0.623	0.13912	T	0.0	0.02946	B	0.001	0.04355	B	0.001478	0.38917	N	0.304664	6.371e-07	0.08975	A	-0.23	0.03940	N	-2.87	0.91478	D	-1.05	0.28290	N	0.04	0.03726	-0.6892	0.60945	T	0.247	0.61600	T	9	0.0784502	0.12504	T	.	.	.	0.355	0.67600	.	.	.	.	0.5012227439210316	0.50044	0.128612980855	0.14499	0.257050007582	0.04546	T	0.49228	0.81630	T	-0.0785813	0.39944	T	-0.350653	0.39129	T	0.0736112371087074	0.09149	T	.	.	.	0.2644275	0.49510	0.109853335	0.26482	0.094889425	0.22319	0.06812106	0.14182	-6.432	0.49759	T	.	.	0.070	0.03698	B	.;.;.;.	.;.;.;.	-2.080381	0.00084	0.001	0.26841523162452846	0.01304	0.01504	0.04979	N	AEFDBI	0.151876	0.27644	N	-1.8369064160701	0.00461	0.0198398	-1.85065327251252	0.00610	0.02711572	0.9475443675706	0.27758	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	-6.32	0.01820	-1.848000	0.01766	.	.	-3.345000	0.00094	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4768:0.1255:0.3977:0.0	6.959	0.23768	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	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	0.012835	0.027778	0.002740	0.013043	0.222222	0.000000	0.014184	0.021186	0.3684	10274.2	34	chr7	142750675	.	A	G	10274.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.342;DP=2628;ExcessHet=17.0548;FS=0.726;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=58.37;MQRankSum=-10.22;QD=4.35;ReadPosRankSum=-2.065;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,25:184:99:0|1:142750660_G_T:571,0,6601:142750660	5	0	14	0
chr7	142750680	142750680	C	T	exonic	PRSS1	.	stopgain	PRSS1:NM_002769:exon2:c.C166T:p.Q56X	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1242	280	0	0	280	0.101302	.	.	.	933720	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0318	0.0685	0.0106	0.0041	0.0339	0.0291	0.0474	0.0480	0.0003074	8	26028	rs147366981	0.0267	0.1326	0.0229	0.0307	0.0653	0.0265	0.0263	0.0624	0.0612	0.0570	0.0653	0.0663	0.0176	0.1422	0.0264	0.0220	0.0394	0.0170	0.2451	0.3472	0.2492	0.2408	0.3469	0.2422	0.2410	0.3402	0.3375	0.3469	0.2122	0.2373	0.2308	0.0477	0.2609	0.1513	0.2221	0.2305	0.0781	.	.	.	.	.	.	.	.	.	.	.	.	0.016899	0.27861	N	0.410325	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.711	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416393	0.90831	D	0.360343	0.90716	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	4.129577	0.61790	24.4	0.99516745074967428	0.68979	0.11811	0.16877	N	AEFDBI	0.295314	0.40546	N	0.145216833814894	0.48585	3.069039	-0.169272407184608	0.32673	1.861256	0.255023528038656	0.18723	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	2.59	0.30091	0.110000	0.15273	.	.	-2.564000	0.00244	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.8252:0.1747:0.0	12.188	0.53561	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	8872.24	34	chr7	142750680	.	C	T	8872.24	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.64;DP=2512;ExcessHet=17.0548;FS=0.748;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=58.46;MQRankSum=-10.32;QD=3.97;ReadPosRankSum=-2.875;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,25:183:99:0|1:142750660_G_T:574,0,6559:142750660	5	0	14	0
chr7	142752476	142752476	G	C	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon4:c.G500C:p.S167T	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	495	1027	0	0	1027	0.509172	.	.	.	1044764	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0561978714716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232891794	0.2545	0.3268	0.2490	0.2598	0.3691	0.2536	0.2533	0.3636	0.3614	0.2301	0.3691	0.3339	0.1146	0.3574	0.2639	0.2514	0.2503	0.2264	0.4061	0.4174	0.4095	0.4025	0.4695	0.4032	0.4020	0.4636	0.4612	0.4695	0.3848	0.4099	0.4028	0.1747	0.4131	0.3359	0.3953	0.3970	0.2476	0.157	0.23997	T	0.098	0.39040	T	0.0	0.07471	B	0.01	0.14941	B	0.083030	0.20775	N	0.574518	1	0.08975	N	1.445	0.36358	L	-3.32	0.93882	D	-2.14	0.48523	N	0.225	0.25622	-0.1577	0.78727	T	0.698	0.89598	D	10	0.23140222	0.40113	T	0.056198	0.66515	D	0.289	0.60808	0.642	0.77903	0.527610103971	0.52408	0.7123115361635766	0.71173	0.155586269279	0.17559	0.440457701683	0.30639	T	0.578285	0.86150	D	-0.00289087	0.51255	T	-0.241929	0.50610	T	0.0861879674086316	0.10760	T	.	.	.	0.1717769	0.37831	0.16736849	0.38616	0.1717769	0.37831	0.16736849	0.38615	-3.967	0.23308	T	.	.	0.124	0.29172	B	.;.;.;.	.;.;.;.	-0.119171	0.03530	0.672	0.49745973133581234	0.04263	0.00742	0.03097	N	AEFBI	0.279347	0.39342	N	-1.33556641628984	0.03277	0.1461073	-1.43646429030785	0.02895	0.1340265	4.17954976400154E-4	0.06899	0.446893	0.09132	0	0.457222	0.06608	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	-1.85	0.07363	0.606000	0.23891	.	.	-1.515000	0.01011	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6816:0.3184:0.0	15.926	0.79405	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3947	31068.8	36	chr7	142752476	.	G	C	31068.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.828;DP=4034;ExcessHet=20.8569;FS=2.82;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=58.26;MQRankSum=-10.26;QD=8.18;ReadPosRankSum=0.19;SOR=0.669	GT:AD:DP:GQ:PL	0/1:204,40:244:99:909,0,5798	4	0	15	0
chr7	143346256	143346256	C	T	intronic	CLCN1;TCAF2	.	.	.	.	4	1472	45	1	0	47	0.0157138	0.0014	0.018	.	247018	Congenital_myotonia,_autosomal_dominant_form|Congenital_myotonia,_autosomal_recessive_form|not_provided|Batten-Turner_congenital_myopathy|not_specified	MONDO:MONDO:0008055,MedGen:C2936781,OMIM:160800,Orphanet:614|MONDO:MONDO:0009715,MedGen:C0751360,OMIM:255700,Orphanet:614|MedGen:C3661900|MONDO:MONDO:0100468,MedGen:C0027127,OMIM:255300|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0211	0.00878594	0.0180	0.0056	0.0130	0.0002	0.0051	0.0267	0.0202	0.0088	0.0183503	2837	154602	rs74824159	0.0254	0.0253	0.0257	0.0250	0.0301	0.0252	0.0251	0.0298	0.0297	0.0049	0.0143	0.0111	0.0002	0.0075	0.0279	0.0301	0.0207	0.0092	0.0171	0.0171	0.0188	0.0154	0.0281	0.0166	0.0163	0.0271	0.0266	0.0057	0	0.0182	0.0104	0.0002	0.0041	0.0238	0.0281	0.0194	0.0099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1020.33	64	chr7	143346256	.	C	T	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.43;DP=973;ExcessHet=0;FS=0.886;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.448;SOR=0.843	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1034,0,734	18	0	1	0
chr7	154053047	154053047	A	T	exonic	DPP6	.	nonsynonymous SNV	DPP6:NM_001290253:exon1:c.A227T:p.D76V,DPP6:NM_130797:exon1:c.A227T:p.D76V	Mental retardation, autosomal dominant 33	87	1370	63	2	0	67	0.0238689	.	.	.	247021	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.126	.	.	0.00159744	0.0574	0	.	.	.	0.075	0	0.0357	0.0011837	183	154602	rs572667303	0.0148	0.0110	0.0149	0.0148	0.0300	0.0146	0.0145	0.0241	0.0220	0.0020	0.0145	0.0261	9.518e-05	0.0042	0.0300	0.0155	0.0146	0.0056	0.0108	0.0107	0.0116	0.0099	0.0158	0.0104	0.0102	0.0147	0.0144	0.0030	0	0.0158	0.0331	0	0.0022	0.0204	0.0155	0.0188	0.0055	0.025	0.47320	D	0.154	0.32040	T	0.119	0.26641	B	0.041	0.23986	B	0.000000	0.00162	N	7739.210000	0.935346	0.81001	D	.	.	.	0.92	0.44461	T	-0.45	0.14782	N	0.242	0.40665	-1.1072	0.03321	T	0.086	0.33354	T	9	0.0031171143	0.00052	T	.	.	.	0.126	0.34673	.	.	0.418159628064	0.41432	0.17424710242975305	0.17343	0.589955309425	0.54475	0.911425590515	0.97604	D	0.017692	0.14390	T	-0.463032	0.00941	T	-0.425566	0.30439	T	0.0210366499213472	0.00804	T	.	.	.	0.20180008	0.42203	0.14007637	0.33402	0.20180008	0.42203	0.14007637	0.33401	-6.34	0.49039	T	.	.	0.378	0.58334	A	.;.	.;.	2.754137	0.36104	20.2	0.78847230867066109	0.12479	0.61112	0.31390	D	AEFDBIJ	0.114985	0.22627	N	-0.744231118289648	0.14791	0.7397859	-0.715476853498762	0.16575	0.8775067	0.0338047295253189	0.14123	0.487112	0.14033	0	0.573888	0.26702	0	0.608004	0.38603	0	0.564101	0.26826	0	.	.	3.2	1.98	0.25351	2.408000	0.44227	7.206000	0.57810	0.519000	0.23678	0.999000	0.42656	1.000000	0.68203	0.973000	0.55318	0.8081:0.1919:0.0:0.0	8.763	0.33848	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012048	0.000000	0.000000	0.027397	0.000000	0.000000	0.018987	0.000000	0.05263	451.83	14	chr7	154053047	.	A	T	451.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.874;DP=534;ExcessHet=0.119;FS=3.179;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.83;SOR=1.532	GT:AD:DP:GQ:PL	0/1:10,11:21:99:240,0,186	17	0	2	0
chr8	10610141	10610141	-	CTCTCTTCTT	exonic	RP1L1	.	frameshift insertion	RP1L1:NM_178857:exon4:c.3956_3957insAAGAAGAGAG:p.V1320Rfs*10	Occult macular dystrophy, Autosomal dominant	22	1378	107	10	5	132	0.0440513	.	.	.	227316	not_specified|Occult_macular_dystrophy	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0188	0.0259	0.0078	0.0009	0.0047	0.0215	0.0216	0.0264	0.0029199	76	26028	rs773894295	0.0480	0.0571	0.0470	0.0491	0.0995	0.0477	0.0476	0.0966	0.0954	0.0995	0.0417	0.0950	0.0331	0.0415	0.0783	0.0447	0.0612	0.0592	0.0767	0.0829	0.0796	0.0736	0.1090	0.0755	0.0750	0.1063	0.1051	0.1090	0.0387	0.0655	0.0959	0.0089	0.0281	0.1049	0.0728	0.0895	0.0614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	13060.8	290	chr8	10610141	.	C	CCTCTCTTCTT	13060.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.28;DP=6205;ExcessHet=0.119;FS=0.545;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.8;MQRankSum=-0.827;QD=25.41;ReadPosRankSum=-2.336;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,188:253:99:.:.:7601,0,2118:.	17	0	2	0
chr8	10610142	10610142	-	CAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCC	exonic	RP1L1	.	frameshift insertion	RP1L1:NM_178857:exon4:c.3955_3956insGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTG:p.A1319Gfs*17	Occult macular dystrophy, Autosomal dominant	204	731	375	86	126	673	0.272275	.	.	.	4024645	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0216	0.0247	0.0085	0.0002	0.0068	0.0323	0.0328	0.0109	0.0004657	72	154602	rs750925370	0.0882	0.0866	0.0925	0.0843	0.1102	0.0876	0.0873	0.1093	0.1089	0.0871	0.0474	0.0789	0.0003	0.0583	0.0882	0.1102	0.0891	0.0172	0.1010	0.1054	0.1069	0.0949	0.1197	0.0993	0.0986	0.1168	0.1156	0.1159	0.0639	0.0856	0.1091	0.0006	0.0444	0.1513	0.1197	0.1201	0.0175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	30094.1	348	chr8	10610142	.	G	GCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCC	30094.1	.	AC=2;AF=0.077;AN=26;BaseQRankSum=1.11;DP=6358;ExcessHet=2.3731;FS=0;InbreedingCoeff=-0.2063;MLEAC=3;MLEAF=0.115;MQ=59.55;MQRankSum=-0.098;QD=12.72;ReadPosRankSum=-1.543;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,188:236:99:.:.:9904,1403,2074:.	11	0	2	6
chr9	2622146	2622146	-	CGG	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	272060	not_specified|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1|Congenital_cerebellar_hypoplasia|not_provided	MedGen:CN169374|MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1638	.	0.3376	0.1818	0.25	0.0139	0.125	0.3308	0.2105	0.3583	0.0206983	3200	154602	rs555425887	0.2927	0.2905	0.2899	0.2955	0.3418	0.2919	0.2915	0.3381	0.3365	0.0877	0.2478	0.3286	0.0443	0.3460	0.2522	0.3019	0.2795	0.3418	0.2545	0.2556	0.2528	0.2563	0.3664	0.2523	0.2515	0.3521	0.3463	0.0964	0.5619	0.2423	0.3682	0.0533	0.3910	0.2345	0.3296	0.2564	0.3664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	24626.0	31	chr9	2622146	.	A	ACGG	24626.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.684;DP=1020;ExcessHet=0.3394;FS=0.629;InbreedingCoeff=0.1815;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=30.94;ReadPosRankSum=0.486;SOR=0.619	GT:AD:DP:GQ:PL	0/1:22,33:57:99:1317,0,822	9	2	8	0
chr9	34649445	34649445	A	G	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon8:c.A613G:p.N205D,GALT:NM_000155:exon10:c.A940G:p.N314D	Galactosemia, Autosomal recessive	0	1107	372	43	0	458	0.171407	.	.	YES	18652	GALT_POLYMORPHISM_(DUARTE,_D2)|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|Galactosemia|not_provided|GALT-related_disorder	.|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|Human_Phenotype_Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.382	.	0.0715	0.0728834	0.0920	0.0237	0.0572	0.0076	0.1131	0.0945	0.1289	0.1832	0.0897013	13868	154602	rs2070074	0.0956	0.0956	0.0927	0.0986	0.1801	0.0952	0.0950	0.1777	0.1767	0.0230	0.0656	0.1134	0.0067	0.1077	0.1130	0.0945	0.0966	0.1801	0.0748	0.0749	0.0737	0.0760	0.1732	0.0737	0.0732	0.1634	0.1595	0.0239	0.2264	0.0709	0.1086	0.0108	0.1101	0.0850	0.0952	0.0794	0.1732	1.0	0.00964	T	0.7	0.05727	T	0.0	0.02946	B	0.0	0.01387	B	0.023682	0.26395	N	0.363282	1	0.08975	N	-1.335	0.00675	N	-5.41	0.99076	D	0.69	0.02558	N	0.104	0.08786	-0.3448	0.73705	T	0.089	0.34216	T	10	0.0015891492	0.00018	T	.	.	.	0.382	0.69946	.	.	.	.	0.6107519334601241	0.61007	0.0529846633455	0.05838	0.494998365641	0.38132	T	0.531105	0.83775	D	-0.320467	0.06859	T	-0.0892856	0.64216	T	0.0011724377910854	0.00011	T	0.607439	0.22904	T	0.115712315	0.27301	0.081687234	0.18585	0.12176597	0.28627	0.085849494	0.19850	-2.233	0.04204	T	0.05973314454148825	0.01594	0.066	0.02313	B	.;.	.;.	2.301558	0.29454	18.13	0.77100449014328254	0.11737	0.33342	0.24805	N	AEFBI	0.235241	0.35787	N	-0.807690574731224	0.13113	0.6437672	-0.543084349204827	0.20989	1.133386	0.999962452380944	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	4.4	0.52402	1.735000	0.37800	6.631000	0.56152	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.3139:0.0:0.6861:0.0	7.829	0.28496	327	0.86637	.;Galactose-1-phosphate uridyl transferase, C-terminal	GALT|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|GALT|IL11RA|IL11RA|CNTFR-AS1|IL11RA|GALT|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|RP11-195F19.9|RPP25L|GALT|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|TRBV26OR9-2|RP11-384P7.7|RPP25L|IL11RA|RP11-195F19.9|GALT|IL11RA|GALT|IL11RA|IL11RA|RPP25L|IL11RA|RP11-195F19.9|CNTFR-AS1|GALT|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RPP25L|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|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_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|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|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	GALT|GALT|GALT|GALT|GALT|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|GALT|GALT|GALT|GALT|GALT|CCL27|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|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|Stomach|Testis|Uterus|Vagina|Whole_Blood	rs2070074	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.120342	0.055556	0.092391	0.134503	0.100000	0.129310	0.131098	0.200758	0.1842	8677.34	34	chr9	34649445	.	A	G	8677.34	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.438;DP=997;ExcessHet=0.0107;FS=3.335;InbreedingCoeff=0.4747;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=-0.15;SOR=0.506	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1067,0,1477	14	2	3	0
chr9	132897614	132897614	A	-	intronic	TSC1	.	.	.	Lymphangioleiomyomatosis;Tuberous sclerosis-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	58145	Tuberous_sclerosis_syndrome|not_provided|Tuberous_sclerosis_1|Hereditary_cancer-predisposing_syndrome|not_specified|Isolated_focal_cortical_dysplasia_type_II	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.342652	0.2827	0.3340	0.2770	0.2973	0.3197	0.2811	0.2717	0.2332	0.0002689	7	26028	rs118203716	0.1067	0.1211	0.1068	0.1066	0.1678	0.1063	0.1061	0.1637	0.1620	0.1678	0.1293	0.1160	0.0999	0.1215	0.1610	0.1053	0.1095	0.0811	0.0585	0.0528	0.0588	0.0581	0.0633	0.0572	0.0567	0.0615	0.0608	0.0601	0.0667	0.0514	0.0821	0.0102	0.0409	0.0750	0.0633	0.0607	0.0347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	8852.51	27	chr9	132897613	.	GA	G	8852.51	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.341;DP=2102;ExcessHet=13.8672;FS=0.626;InbreedingCoeff=-0.52;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-0.037;SOR=0.771	GT:AD:DP:GQ:PL	0/1:29,26:94:34:424,0,659	4	0	15	0
chr9	133568656	133568656	G	A	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon15:c.G2142A:p.S714S,ADAMTSL2:NM_014694:exon15:c.G2142A:p.S714S	Geleophysic dysplasia 1, Autosomal recessive	0	1201	295	26	0	347	0.126228	.	.	.	311645	not_specified|Geleophysic_dysplasia_1|not_provided	MedGen:CN169374|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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.1316	7754.35	156	chr9	133568656	.	G	A	7754.35	.	AC=5;AF=0.132;AN=38;BaseQRankSum=3.05;DP=1009;ExcessHet=0.0506;FS=0.533;InbreedingCoeff=0.3091;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=0.356;SOR=0.763	GT:AD:DP:GQ:PL	1/1:0,94:94:99:3252,282,0	15	1	3	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V,ADAMTSL2:NM_014694:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	1	295	703	523	0	1749	0.747755	.	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.6053	29638.8	93	chr9	133569476	.	A	G	29638.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.97;DP=1386;ExcessHet=0.0003;FS=0;InbreedingCoeff=0.6696;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=25.62;ReadPosRankSum=0.46;SOR=0.682	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2283,192,0	6	10	3	0
chr9	133569488	133569488	C	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.C2325G:p.S775S,ADAMTSL2:NM_014694:exon16:c.C2325G:p.S775S	Geleophysic dysplasia 1, Autosomal recessive	0	1194	298	30	0	358	0.130371	.	.	.	307339	not_specified|Geleophysic_dysplasia_1|not_provided	MedGen:CN169374|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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.1316	3940.35	93	chr9	133569488	.	C	G	3940.35	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.84;DP=878;ExcessHet=0.0506;FS=0.427;InbreedingCoeff=0.3091;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.207;SOR=0.649	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1860,171,0	15	1	3	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	1265	97	26	134	0	294	0.602459	.	.	.	322826	Hypoparathyroidism,_deafness,_renal_disease_syndrome|not_provided	MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	2895.72	4	chr10	8074278	.	G	GA	2895.72	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-0.407;DP=172;ExcessHet=0.0012;FS=0;InbreedingCoeff=0.5952;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=25.4;ReadPosRankSum=-0.21;SOR=0.929	GT:AD:DP:GQ:PL	1/1:1,11:12:8:267,8,0	5	11	3	0
chr10	15671610	15671610	A	G	exonic	ITGA8	.	synonymous SNV	ITGA8:NM_003638:exon8:c.T840C:p.S280S	Renal hypodysplasia/aplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	712286	Inborn_genetic_diseases|Renal_hypodysplasia/aplasia_1|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.000399361	0.0007	0.0004	0.0002	0	0	0.0011	0.0011	0.0004	0.0007374	114	154602	rs151036773	0.0013	0.0013	0.0013	0.0013	0.0016	0.0012	0.0012	0.0015	0.0015	2.989e-05	0.0002	0.0003	2.522e-05	0.0002	0.0003	0.0016	0.0007	0.0006	0.0008	0.0008	0.0008	0.0008	0.0016	0.0007	0.0006	0.0014	0.0013	0.0002	0	0	0.0006	0	0	0	0.0016	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.02632	749.33	68	chr10	15671610	.	A	G	749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.051;DP=1072;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=0.407;SOR=0.728	GT:AD:DP:GQ:PL	0/1:61,37:98:99:763,0,1543	18	0	1	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	not_provided|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome|not_specified|Permanent_neonatal_diabetes_mellitus|Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2	MedGen:C3661900|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288|MedGen:CN169374|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.357	.	0.5108	0.624401	0.5470	0.5697	0.7022	0.8903	0.4327	0.4864	0.5430	0.5350	0.523195	80887	154602	rs7918487	0.4938	0.4962	0.4927	0.4948	0.8378	0.4928	0.4924	0.8302	0.8271	0.5601	0.6724	0.5597	0.8378	0.4417	0.6054	0.4672	0.5268	0.5353	0.5240	0.5241	0.5217	0.5264	0.8799	0.5210	0.5197	0.8585	0.8498	0.5578	0.4215	0.5843	0.5542	0.8799	0.4411	0.6327	0.4725	0.5375	0.5558	0.035	0.43708	D	0.009	0.66756	D	0.022	0.18677	B	0.011	0.15521	B	0.000012	0.62929	N	0.068790	0.00248586	0.43951	P	1.18	0.29980	L	-3.56	0.94869	D	-2.27	0.50666	N	0.06	0.03175	-0.9246	0.44915	T	0.000	0.00011	T	9	7.2453116e-07	0.00003	T	.	.	.	0.357	0.67782	.	.	.	.	0.8029689689293238	0.80250	.	.	0.808061718941	0.83195	D	0.245918	0.61529	T	-0.418964	0.01736	T	-0.230769	0.51698	T	0.0349258213578647	0.02795	T	0.630137	0.24490	T	0.42178693	0.62210	0.62976736	0.78405	0.41815445	0.61969	0.6288712	0.78357	-5.729	0.43950	T	0.22715938275925626	0.30707	0.161	0.35643	B	.	.	3.140397	0.42469	21.5	0.98917447264891534	0.48491	0.98167	0.80181	D	AEFDBCI	0.815195	0.73723	D	-0.175553205708038	0.34153	1.946079	-0.064842511773185	0.36855	2.150201	0.999832780372402	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.34	3.02	0.33970	4.083000	0.57365	2.832000	0.35027	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.500000	0.29017	0.0:0.1441:0.0:0.8559	9.307	0.37045	833	0.38804	.	C10orf67|C10orf67|ARMC3|MSRB2|C10orf67|C10orf67|C10orf67|C10orf67	Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	C10orf67	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0.638469	0.611111	0.634511	0.652047	0.450000	0.637931	0.667683	0.609848	0.6053	12490.8	35	chr10	23193706	.	T	C	12490.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.33;DP=673;ExcessHet=10.2499;FS=0.629;InbreedingCoeff=-0.4319;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=19.95;ReadPosRankSum=0.143;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,28:45:99:.:.:865,0,480:.	1	5	13	0
chr10	43114671	43114671	G	A	exonic	RET	.	nonsynonymous SNV	RET:NM_001355216:exon8:c.G1309A:p.G437S,RET:NM_020630:exon11:c.G2071A:p.G691S,RET:NM_020975:exon11:c.G2071A:p.G691S	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant	5	773	611	133	0	877	0.361948	.	.	.	36275	Multiple_endocrine_neoplasia_type_2B|not_specified|Renal_hypodysplasia/aplasia_1|Multiple_endocrine_neoplasia,_type_2|Multiple_endocrine_neoplasia_type_2A|Hirschsprung_disease,_susceptibility_to,_1|Multiple_endocrine_neoplasia|Hereditary_cancer-predisposing_syndrome|not_provided|Pheochromocytoma	MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:247709,Orphanet:653|MedGen:CN169374|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709|MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:247698,Orphanet:653|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.207	.	0.1570	0.169129	0.2033	0.1026	0.3688	0.1094	0.2214	0.1887	0.2272	0.2500	0.196938	30447	154602	rs1799939	0.1852	0.1852	0.1834	0.1871	0.3384	0.1846	0.1844	0.3339	0.3320	0.0963	0.3384	0.1988	0.0943	0.2118	0.2536	0.1778	0.1804	0.2569	0.1695	0.1698	0.1662	0.1731	0.2485	0.1678	0.1671	0.2419	0.2392	0.1010	0.1579	0.2485	0.2015	0.1055	0.2299	0.2397	0.1818	0.1795	0.2432	0.178	0.22138	T	0.123	0.35582	T	0.062	0.25884	B	0.007	0.17743	B	0.003826	0.34438	N	0.349618	1	0.08975	P	0.55	0.14455	N	-1.05	0.78082	T	-0.95	0.25332	N	0.045	0.02088	-1.0975	0.04407	T	0.000	0.00039	T	9	0.005253911	0.00115	T	.	.	.	0.207	0.49555	.	.	.	.	0.5028086851049985	0.50202	0.204518158434	0.22873	0.348253011703	0.17664	T	0.423	0.77390	T	-0.557986	0.00261	T	-0.430465	0.29884	T	0.0152077337298967	0.00333	T	0.842016	0.51794	T	0.039440107	0.05446	0.038123365	0.03613	0.03964718	0.05514	0.041703895	0.04799	-0.799	0.00802	T	0.11972520613525756	0.11186	0.073	0.04477	B	.;.	.;.	1.310757	0.17138	12.98	0.85950769653778381	0.16217	0.38801	0.26070	N	AEFDGBCI	0.075412	0.15142	N	-0.84095240757271	0.12273	0.5972382	-0.786731628796562	0.14821	0.77639	0.604377329902492	0.21753	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.75	-1.08	0.09428	4.413000	0.59549	1.794000	0.28824	0.676000	0.76740	1.000000	0.71638	0.910000	0.28117	0.003000	0.05239	0.7374:0.0:0.2626:0.0	9.258	0.36757	856	0.34373	.;.	RASGEF1A|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|RASGEF1A|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid	CSGALNACT2|CSGALNACT2	Artery_Tibial|Nerve_Tibial	rs1799939	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.246224	0.232323	0.247956	0.263158	0.300000	0.250000	0.234756	0.272727	0.2632	14876.2	150	chr10	43114671	.	G	A	14876.2	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.55;DP=1538;ExcessHet=6.9875;FS=0;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.248;SOR=0.681	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1501,0,1368	9	0	10	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	.	323868	Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant	Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|.|MedGen:CN239310	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	20166.3	21	chr10	90918983	.	AATAAATAAATATATATAT	A	20166.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1;DP=684;ExcessHet=0.0125;FS=8.123;InbreedingCoeff=0.4682;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.83;ReadPosRankSum=1.04;SOR=0.229	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,44:45:96:1|1:90918983_AATAAATAAATATATATAT_A:1896,96,0:90918983	7	7	5	0
chr10	99716469	99716469	G	T	exonic	COX15	.	nonsynonymous SNV	COX15:NM_001372025:exon8:c.C998A:p.S333Y	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, Autosomal recessive;Leigh syndrome due to cytochrome c oxidase deficiency, Autosomal recessive, Mitochondrial	0	1510	12	0	0	12	0.00395778	0.0005	0.062	.	140716	not_provided|Leigh_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0020	0	8.77e-05	0	0	0	0	0.0148	0.0016947	262	154602	rs542092025	0.0010	0.0010	0.0005	0.0015	0.0158	0.0009	0.0009	0.0151	0.0148	0	0	0	0	0	0.0012	9.238e-07	0.0005	0.0158	0.0003	0.0003	0.0001	0.0005	0.0095	0.0002	0.0002	0.0074	0.0066	0	0	0	0	0	0	0	0	0	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	575.33	42	chr10	99716469	.	G	T	575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.802;DP=668;ExcessHet=0;FS=13.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=-0.686;SOR=0.042	GT:AD:DP:GQ:PL	0/1:17,20:37:99:589,0,557	18	0	1	0
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9211	20063.0	23	chr10	123053169	.	AT	A	20063.0	.	AC=35;AF=0.921;AN=38;BaseQRankSum=0.756;DP=975;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=35;MLEAF=0.921;MQ=60;MQRankSum=0;QD=26.06;ReadPosRankSum=-0.156;SOR=0.653	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1426,156,0	0	16	3	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	21	72	439	990	0	2419	0.943816	.	.	.	326978	Maturity-onset_diabetes_of_the_young_type_10|Type_1_diabetes_mellitus_2|Autosomal_recessive_DOPA_responsive_dystonia|Diabetes_mellitus,_permanent_neonatal_4|Transient_Neonatal_Diabetes,_Dominant/Recessive|Diabetes_mellitus_type_1|not_provided|Hyperproinsulinemia|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MedGen:CN239353|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|MedGen:C3661900|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.7895	74441.6	127	chr11	2159830	.	T	G	74441.6	.	AC=30;AF=0.789;AN=38;BaseQRankSum=1.45;DP=2966;ExcessHet=0.0419;FS=0;InbreedingCoeff=0.3667;MLEAC=30;MLEAF=0.789;MQ=60;MQRankSum=0;QD=26.43;ReadPosRankSum=0.916;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,145:145:99:.:.:4346,435,0:.	2	13	4	0
chr11	17276578	17276578	C	G	upstream	NUCB2	dist=136	.	.	.	1177	165	27	153	0	333	0.502262	.	.	.	132617	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.665136	.	.	.	.	.	.	.	.	0.611226	15909	26028	rs214088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6236	0.6237	0.6233	0.6239	0.8166	0.6202	0.6189	0.7960	0.7876	0.6476	0.6747	0.6715	0.6983	0.8166	0.5278	0.6156	0.5913	0.6627	0.6438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7727	1258.83	1	chr11	17276578	.	C	G	1258.83	.	AC=17;AF=0.773;AN=22;BaseQRankSum=0.842;DP=44;ExcessHet=0;FS=0;InbreedingCoeff=0.3978;MLEAC=24;MLEAF=1;MQ=60;MQRankSum=0;QD=28.57;ReadPosRankSum=1.28;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:17276557_A_C:135,9,0:17276557	2	8	1	8
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|Type_2_diabetes_mellitus|not_provided|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,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|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	.	.	.	.	.	.	.	.	.	.	.	0.46885	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1538	178.8	4	chr11	17386478	.	A	G	178.8	.	AC=4;AF=0.154;AN=26;DP=57;ExcessHet=0;FS=0;InbreedingCoeff=0.4854;MLEAC=4;MLEAF=0.154;MQ=60;QD=25.54;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,5:5:15:131,15,0	11	2	0	6
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	9	194	657	662	0	1981	0.836218	.	.	.	319487	Diabetes_mellitus,_transient_neonatal,_3|Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.735823	.	.	.	.	.	.	.	.	0.02213	576	26028	rs5213	0.6509	0.6490	0.6528	0.6489	0.9329	0.6497	0.6492	0.9237	0.9199	0.9329	0.6277	0.6666	0.6333	0.5278	0.7238	0.6500	0.6663	0.6293	0.7178	0.7178	0.7241	0.7113	0.9199	0.7143	0.7128	0.9122	0.9090	0.9199	0.5746	0.6767	0.6737	0.6457	0.5344	0.7041	0.6490	0.6958	0.6272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.6316	24565.1	85	chr11	17386857	.	C	T	24565.1	.	AC=24;AF=0.632;AN=38;BaseQRankSum=2.46;DP=1180;ExcessHet=0.0884;FS=0;InbreedingCoeff=0.3214;MLEAC=24;MLEAF=0.632;MQ=60;MQRankSum=0;QD=24.49;ReadPosRankSum=-0.201;SOR=0.711	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2147,186,0	4	9	6	0
chr11	17395957	17395957	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	445	728	343	0	1414	0.613715	.	.	.	167548	not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4704	0.421526	0.4583	0.7635	0.5950	0.1792	0.4136	0.4287	0.4590	0.3842	0.0121792	317	26028	rs739689	0.3432	0.3401	0.3432	0.3431	0.7497	0.3424	0.3420	0.7418	0.7385	0.7497	0.4335	0.4145	0.1096	0.2056	0.4979	0.3368	0.3619	0.3678	0.4400	0.4401	0.4495	0.4300	0.7292	0.4372	0.4361	0.7223	0.7195	0.7292	0.2325	0.4480	0.4173	0.0892	0.1976	0.4286	0.3364	0.4347	0.3522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	19360.1	51	chr11	17395957	.	A	G	19360.1	.	AC=22;AF=0.579;AN=38;BaseQRankSum=2.47;DP=970;ExcessHet=0.0637;FS=3.727;InbreedingCoeff=0.3523;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=25.47;ReadPosRankSum=0.222;SOR=0.419	GT:AD:DP:GQ:PL	1/1:0,52:52:99:1774,156,0	5	8	6	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	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.904153	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	4522.1	9	chr11	17414293	.	A	G	4522.1	.	AC=27;AF=0.75;AN=36;BaseQRankSum=0.253;DP=216;ExcessHet=0.0524;FS=3.178;InbreedingCoeff=0.3136;MLEAC=28;MLEAF=0.778;MQ=60;MQRankSum=0;QD=25.55;ReadPosRankSum=0.126;SOR=1.559	GT:AD:DP:GQ:PL	1/1:0,11:11:33:353,33,0	2	11	5	1
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	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8933	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7368	28817.0	97	chr11	17415389	.	A	G	28817.0	.	AC=28;AF=0.737;AN=38;BaseQRankSum=1.13;DP=1219;ExcessHet=0.0151;FS=0;InbreedingCoeff=0.4571;MLEAC=28;MLEAF=0.737;MQ=60;MQRankSum=0;QD=26.41;ReadPosRankSum=-0.044;SOR=0.77	GT:AD:DP:GQ:PL	1/1:0,65:65:99:1973,195,0	3	12	4	0
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H,ABCC8:NM_001287174:exon12:c.C1686T:p.H562H,ABCC8:NM_001351295:exon12:c.C1686T:p.H562H,ABCC8:NM_001351296:exon12:c.C1683T:p.H561H,ABCC8:NM_001351297:exon12:c.C1683T:p.H561H	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	Permanent_neonatal_diabetes_mellitus|not_provided|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Cerebral_edema|not_specified|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MedGen:CN169374|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	.	.	.	.	.	.	.	.	.	.	0.4587	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	0	1	0.414560	0.333333	0.405995	0.438596	0.500000	0.500000	0.393293	0.431298	0.4211	32289.9	190	chr11	17430945	.	G	A	32289.9	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.597;DP=1785;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.3523;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=22.12;ReadPosRankSum=-0.168;SOR=0.777	GT:AD:DP:GQ:PL	1/1:0,127:127:99:4030,381,0	8	5	6	0
chr11	17453137	17453137	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon7:c.C1158T:p.N386N,ABCC8:NM_001287174:exon7:c.C1158T:p.N386N,ABCC8:NM_001351295:exon7:c.C1158T:p.N386N,ABCC8:NM_001351296:exon7:c.C1155T:p.N385N,ABCC8:NM_001351297:exon7:c.C1155T:p.N385N	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	1	1518	3	0	0	3	0.000987167	.	.	.	167529	not_specified|Maturity_onset_diabetes_mellitus_in_young|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Hereditary_hyperinsulinism|Permanent_neonatal_diabetes_mellitus|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:C3661900|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|.|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0149	0.0133786	0.0042	0.0475	0.0005	0	0	8.991e-05	0.0022	0.0001	0.003965	613	154602	rs60824529	0.0012	0.0012	0.0014	0.0010	0.0429	0.0012	0.0011	0.0411	0.0403	0.0429	0.0015	0	0	0	0.0026	7.735e-05	0.0025	8.115e-05	0.0126	0.0126	0.0133	0.0119	0.0441	0.0121	0.0119	0.0424	0.0417	0.0441	0	0.0036	0	0	0	0	0.0002	0.0109	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.003525	0.010101	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	4656.81	34	chr11	17453137	.	G	A	4656.81	.	AC=2;AF=0.053;AN=38;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.84;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,151:151:99:4684,453,0	18	1	0	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	Permanent_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Type_2_diabetes_mellitus|not_provided|not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|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|MedGen:CN169374|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	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	39023.8	33	chr11	17463424	.	G	A	39023.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.661;DP=2166;ExcessHet=0.233;FS=0.597;InbreedingCoeff=0.229;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=21.2;ReadPosRankSum=-0.799;SOR=0.797	GT:AD:DP:GQ:PL	1/1:0,167:167:99:5454,501,0	8	4	7	0
chr11	17578424	17578424	C	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon22:c.C2693T:p.T898M,OTOG:NM_001292063:exon23:c.C2657T:p.T886M	Deafness, autosomal recessive 18B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	492270	OTOG-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_18B|not_provided	.|MONDO:MONDO:0013985,MedGen:C3554163,OMIM:614945,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	0.0660167127806	.	0.000399361	0.0002	0.0025	0	0	0	0	0	0.0001	4.53e-05	7	154602	rs113688475	0.0001	0.0001	0.0001	9.923e-05	0.0033	0.0001	0.0001	0.0028	0.0026	0.0033	8.416e-05	0	0	0	0.0009	3.523e-05	0.0002	0.0001	0.0007	0.0007	0.0007	0.0007	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0	2.94e-05	0.0009	0	0.118	0.28148	T	0.087	0.40909	T	.	.	.	.	.	.	0.629129	0.10704	U	0.763019	1	0.18878	N	0.345	0.11182	N	2.28	0.17271	T	-1.21	0.30762	N	0.085	0.07262	-0.9810	0.34771	T	0.025	0.10464	T	8	0.006717056	0.00152	T	0.066017	0.69750	D	0.075	0.21907	.	.	0.141422826196	0.13715	0.2662719851466724	0.26540	.	.	0.296312749386	0.09853	T	0.077149	0.35587	T	-0.703993	0.00035	T	-0.784534	0.02320	T	0.00813463920493105	0.00097	T	0.580242	0.21138	T	0.019522058	0.00484	0.03664553	0.03152	0.019522058	0.00484	0.03664553	0.03151	-5.244	0.39386	T	.	.	0.078	0.08272	B	.;.	.;.	1.399886	0.18135	13.57	0.87090808757757066	0.16982	0.10309	0.15851	N	AEFDBI	0.107189	0.21364	N	-0.838973108262176	0.12322	0.5999371	-0.855621805514375	0.13152	0.6807532	0.333081787315662	0.19505	0.487112	0.14033	0	0.59043	0.45803	0	0.507541	0.09363	1	0.564101	0.26826	0	.	.	5.79	3.94	0.44807	1.831000	0.38781	0.040000	0.13855	-0.919000	0.02208	0.003000	0.16062	0.000000	0.08366	0.053000	0.15439	0.0:0.7695:0.0:0.2305	8.481	0.32201	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4335.81	35	chr11	17578424	.	C	T	4335.81	.	AC=2;AF=0.053;AN=38;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.1;SOR=0.908	GT:AD:DP:GQ:PL	1/1:0,131:131:99:4363,393,0	18	1	0	0
chr11	22279865	22279866	TT	-	UTR3	ANO5	NM_001142649:c.*100_*101delTT;NM_213599:c.*100_*101delTT	.	.	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	198	4	1	16	7	40	0.804878	.	.	.	313674	Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_myopathy|not_provided|not_specified	MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1491460943	0.4847	0.4800	0.4864	0.4832	0.5022	0.4832	0.4826	0.5004	0.4996	0.3369	0.4373	0.4965	0.3131	0.5284	0.4919	0.5022	0.4672	0.4755	0.5470	0.5408	0.5446	0.5494	0.6377	0.5437	0.5424	0.6326	0.6305	0.3600	0.7205	0.5649	0.6499	0.3285	0.7108	0.5906	0.6377	0.5639	0.5818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	1225.43	3	chr11	22279864	.	CTT	C	1225.43	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-0.524;DP=113;ExcessHet=0.002;FS=0;InbreedingCoeff=0.397;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=26.64;ReadPosRankSum=0.842;SOR=1.292	GT:AD:DP:GQ:PL	0/1:1,2:3:17:63,0,17	11	4	1	3
chr11	89178528	89178528	C	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon1:c.C575A:p.S192Y	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	0	682	633	207	0	1047	0.43426	.	.	YES	18817	Oculocutaneous_albinism|not_provided|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1A|Oculocutaneous_albinism_type_1B|not_specified|Albinism_or_congenital_nystagmus	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|MedGen:C3661900|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	0.2748	0.123403	0.2518	0.0620	0.1918	0.0008	0.1818	0.3663	0.2907	0.1085	0.261019	40354	154602	rs1042602	0.3220	0.3220	0.3252	0.3188	0.3670	0.3213	0.3209	0.3661	0.3657	0.0507	0.2157	0.4485	0.0009	0.1815	0.3226	0.3670	0.3000	0.1142	0.2419	0.2419	0.2523	0.2311	0.3651	0.2398	0.2390	0.3613	0.3597	0.0668	0.3425	0.2714	0.4547	0.0023	0.1828	0.4048	0.3651	0.3011	0.0986	0.031	0.45039	D	0.003	0.76473	D	0.997	0.70673	D	0.974	0.73157	D	0.000008	0.62929	D	0.065875	0.999508	0.21084	P	1.845	0.48678	L	-5.1	0.98700	D	-2.79	0.59059	D	0.382	0.42345	-1.7843	0.00000	T	0.000	0.00039	T	8	0.0053822994	0.00118	T	.	.	.	0.355	0.67600	.	.	.	.	0.6892773878264551	0.68867	0.0688238525608	0.07705	0.439628481865	0.30526	T	0.88496	0.97618	D	-0.260349	0.12860	T	-0.00292912	0.70146	D	0.0152115171034676	0.00334	T	0.744526	0.36463	T	0.16305736	0.36423	0.21538205	0.46125	0.19196893	0.40846	0.22641657	0.47618	-9.607	0.71523	D	0.3624652220777897	0.45877	0.135	0.29228	B	.	.	4.082595	0.60747	24.3	0.99333304920791965	0.59856	0.86225	0.45465	D	AEFBI	0.785702	0.71601	D	0.494697286576891	0.66780	4.99452	0.417875167062087	0.62678	4.48737	0.993650488775012	0.33302	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	4.505000	0.60141	5.876000	0.50589	0.599000	0.40250	0.420000	0.26330	1.000000	0.68203	0.864000	0.41028	0.1393:0.8607:0.0:0.0	15.385	0.74410	864	0.32732	Tyrosinase copper-binding domain	CBX3P7|CTSC	Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs1042602	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	0.325780	0.454545	0.342391	0.146199	0.200000	0.310345	0.426829	0.234848	0.3158	42743.9	296	chr11	89178528	.	C	A	42743.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.421;DP=3285;ExcessHet=4.0818;FS=0;InbreedingCoeff=-0.2179;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.108;SOR=0.669	GT:AD:DP:GQ:PL	0/1:137,125:262:99:3241,0,3880	8	1	10	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_provided|Asphyxiating_thoracic_dystrophy_3|Short_rib-polydactyly_syndrome|Jeune_thoracic_dystrophy|not_specified	MedGen:C3661900|MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271|MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MedGen:CN169374	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	990.83	42	chr11	103109776	.	T	C	990.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.03;DP=726;ExcessHet=0.119;FS=1.951;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.703;SOR=0.982	GT:AD:DP:GQ:PL	0/1:31,13:44:99:336,0,883	17	0	2	0
chr11	124870663	124870663	C	T	exonic	ROBO3	.	nonsynonymous SNV	ROBO3:NM_022370:exon6:c.C968T:p.T323M	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	1	1500	20	1	0	22	0.00727995	.	.	.	313034	Gaze_palsy,_familial_horizontal,_with_progressive_scoliosis_1|ROBO3-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0020790,MedGen:C4551964,OMIM:607313,Orphanet:2744|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.317	0.032083336353	0.0015	0.00239617	0.0027	0.0003	0.0016	0.0001	0	0.0025	0.0052	0.0074	0.0022898	354	154602	rs151168595	0.0023	0.0023	0.0021	0.0024	0.0078	0.0022	0.0022	0.0060	0.0054	0.0003	0.0013	0.0071	5.039e-05	9.366e-05	0.0078	0.0021	0.0026	0.0060	0.0016	0.0016	0.0015	0.0016	0.0079	0.0014	0.0013	0.0059	0.0052	0.0004	0.0154	0.0008	0.0049	0	9.414e-05	0.0034	0.0020	0.0019	0.0079	0.022	0.48642	D	0.086	0.40909	T	0.997	0.70673	D	0.903	0.64103	P	0.001972	0.37549	N	0.000000	0.99998	0.54805	D	0.76	0.19266	N	-0.31	0.68030	T	-4.29	0.76414	D	0.494	0.54059	-0.3692	0.72986	T	0.376	0.73416	T	10	0.017130792	0.00364	T	0.032083	0.54006	D	0.317	0.63904	.	.	0.80569185795	0.80387	0.4394931041958056	0.43866	0.196689076968	0.22038	0.434984266758	0.29891	T	0.321641	0.69271	T	-0.330571	0.06068	T	-0.244451	0.50362	T	0.0478758717306086	0.05121	T	0.920008	0.71084	D	0.20085593	0.42075	0.3062838	0.56653	0.21977215	0.44517	0.30479282	0.56506	-7.501	0.57617	D	.	.	0.130	0.27762	B	.;.	.;.	4.538391	0.71308	25.7	0.99912849263067272	0.98167	0.96841	0.71229	D	AEFDBI	0.745310	0.68802	D	0.466704894550722	0.65156	4.78731	0.417104854761136	0.62631	4.481685	0.99999995657008	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.21	4.21	0.48984	6.105000	0.71165	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:1.0:0.0:0.0	16.700	0.85206	712	0.56465	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.001359	0.005848	0.000000	0.017241	0.027439	0.011364	0.02632	1397.33	60	chr11	124870663	.	C	T	1397.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.247;DP=1060;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.44;SOR=0.585	GT:AD:DP:GQ:PL	0/1:65,55:120:99:1411,0,1691	18	0	1	0
chr12	6018369	6018369	T	G	exonic	VWF	.	synonymous SNV	VWF:NM_000552:exon28:c.A5049C:p.A1683A	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	0	780	740	2	0	744	0.322917	.	.	.	266166	not_provided|not_specified|von_Willebrand_disease_type_2|Hereditary_von_Willebrand_disease|von_Willebrand_disease_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022509	348	154602	rs79275181	0.0541	0.1753	0.0514	0.0568	0.1039	0.0537	0.0535	0.0948	0.0912	0.0354	0.0602	0.0362	0.0427	0.0518	0.1039	0.0556	0.0445	0.0580	0.0156	0.0580	0.0139	0.0174	0.0276	0.0150	0.0148	0.0233	0.0217	0.0133	0.0179	0.0169	0.0164	0.0276	0.0176	0	0.0152	0.0178	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3421	2518.84	90	chr12	6018369	.	T	G	2518.84	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.118;DP=842;ExcessHet=13.8672;FS=7.854;InbreedingCoeff=-0.542;MLEAC=13;MLEAF=0.342;MQ=55.8;MQRankSum=-6.333;QD=3.86;ReadPosRankSum=1.54;SOR=0.316	GT:AD:DP:GQ:PL	0/1:33,5:38:23:23,0,952	6	0	13	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374648:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374649:exon1:c.136_147del:p.E48_S51del,PEX5:NM_000319:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131023:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001131024:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131025:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001300789:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351124:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351126:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351128:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351130:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351131:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351132:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351134:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351135:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351136:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351137:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351138:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351139:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374645:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374646:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131026:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351127:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351133:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351140:exon3: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	Peroxisome_biogenesis_disorder_2B|Rhizomelic_chondrodysplasia_punctata_type_5|not_specified|Peroxisome_biogenesis_disorder_2A_(Zellweger)|not_provided	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MedGen:CN169374|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	13088.5	19	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	13088.5	.	AC=29;AF=0.763;AN=38;BaseQRankSum=3.05;DP=1223;ExcessHet=0.0003;FS=21.899;InbreedingCoeff=0.6833;MLEAC=29;MLEAF=0.763;MQ=59.36;MQRankSum=0;QD=31.75;ReadPosRankSum=0.192;SOR=2.092	GT:AD:DP:GQ:PL	0/1:9,9:18:99:366,0,337	4	14	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	11234.8	27	chr12	21174718	.	T	TA	11234.8	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.433;DP=1312;ExcessHet=10.2499;FS=0;InbreedingCoeff=-0.4258;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.352;SOR=0.734	GT:AD:DP:GQ:PL	1/0:6,42:57:38:1040,54,38	2	0	17	0
chr12	47845054	47845054	C	A	intronic	VDR	.	.	.	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	84	358	570	510	0	1590	0.689506	.	.	.	1242175	Hepatocellular_carcinoma|not_provided|Vitamin_D-dependent_rickets_type_II_with_alopecia|Periodontitis	Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C3661900|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5622	0.515375	0.5187	0.6234	0.3909	0.2778	0.5489	0.5375	0.5256	0.5796	0.50879	78660	154602	rs7975232	0.5254	0.5252	0.5231	0.5277	0.6365	0.5244	0.5240	0.6294	0.6264	0.6365	0.4233	0.5667	0.3056	0.5525	0.6244	0.5274	0.5314	0.5759	0.5491	0.5493	0.5492	0.5489	0.6267	0.5459	0.5446	0.6203	0.6176	0.6267	0.5894	0.5041	0.5828	0.2901	0.5503	0.5548	0.5281	0.5518	0.5587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	6535.2	10	chr12	47845054	.	C	A	6535.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-1.626;DP=348;ExcessHet=0.1862;FS=5.896;InbreedingCoeff=0.2547;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=25.23;ReadPosRankSum=1.02;SOR=0.353	GT:AD:DP:GQ:PL	0/1:3,9:12:73:294,0,73	5	7	7	0
chr12	47879112	47879112	A	G	exonic	VDR	.	startloss	VDR:NM_001374662:exon2:c.T2C:p.M1?,VDR:NM_000376:exon3:c.T2C:p.M1?,VDR:NM_001017536:exon3:c.T152C:p.M51T,VDR:NM_001374661:exon3:c.T2C:p.M1?,VDR:NM_001017535:exon4:c.T2C:p.M1?	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	6	103	520	893	0	2306	0.917994	.	.	YES	331088	Periodontitis|not_provided|not_specified|Vitamin_D-dependent_rickets_type_II_with_alopecia	Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.503	.	0.6732	0.671526	0.6376	0.7880	0.5203	0.5448	0.6403	0.6138	0.6512	0.7671	0.62549	96702	154602	rs2228570	0.6253	0.6253	0.6210	0.6296	0.7904	0.6242	0.6238	0.7824	0.7791	0.7904	0.5345	0.5612	0.5913	0.6341	0.7321	0.6142	0.6362	0.7660	0.6621	0.6625	0.6611	0.6633	0.7801	0.6587	0.6573	0.7730	0.7701	0.7801	0.7368	0.5776	0.5716	0.5697	0.6440	0.6939	0.6163	0.6895	0.7391	0.0	0.91255	D	0.013	0.63109	D	0.289	0.32288	B	0.275	0.40079	B	0.000031	0.55875	D	0.149012	0.989818	0.81001	P	.	.	.	-3.24	0.93882	D	0.36	0.09460	N	0.34	0.38129	-0.9252	0.44829	T	0.000	0.00011	T	8	8.306137e-06	0.00003	T	.	.	.	0.503	0.78538	.	.	.	.	0.3450707945471	0.34421	0.570787460381	0.53228	0.625708281994	0.56536	T	0.324761	0.69555	T	-0.283926	0.10255	T	-0.036796	0.67917	D	0.0963817504551405	0.11954	T	0.9	0.65058	D	0.68792903	0.77399	0.63474244	0.78679	0.6637955	0.76103	0.5718023	0.75203	-7.866	0.60153	D	.	.	0.232	0.46516	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.762546	0.36239	20.2	0.99030006853180141	0.50786	0.91887	0.54478	D	AEFDBI	0.433632	0.49501	N	0.245728946061445	0.53428	3.511683	0.278389843584115	0.54280	3.593452	0.999289017433705	0.39007	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.58	2.89	0.32713	4.354000	0.59193	6.099000	0.53531	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.8342:0.0:0.1658:0.0	9.950	0.40804	884	0.28482	.;.;.;.;.;.;.	RP1-228P16.1	Spleen	.	.	.	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	0.734642	0.696970	0.716033	0.745614	0.450000	0.810345	0.768293	0.768939	0.7895	28523.7	90	chr12	47879112	.	A	G	28523.7	.	AC=30;AF=0.789;AN=38;BaseQRankSum=-0.359;DP=1240;ExcessHet=0.6689;FS=0;InbreedingCoeff=0.05;MLEAC=30;MLEAF=0.789;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0.867;SOR=0.663	GT:AD:DP:GQ:PL	0/1:24,11:35:99:246,0,674	1	12	6	0
chr12	51765852	51765852	A	G	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon16:c.A2726G:p.N909S,SCN8A:NM_001330260:exon16:c.A2726G:p.N909S,SCN8A:NM_001369788:exon16:c.A2726G:p.N909S,SCN8A:NM_014191:exon16:c.A2726G:p.N909S	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	2099699	Developmental_and_epileptic_encephalopathy|not_provided	MONDO:MONDO:0100620,MedGen:C5779964|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.354	0.0592114194369	.	.	8.255e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs776493877	4.104e-06	4.104e-06	4.084e-06	4.125e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.008	0.14655	B	0.016	0.17743	B	0.000028	0.55875	N	0.156333	0.638915	0.30633	N	-1.095	0.01012	N	-4.86	0.98263	D	1.3	0.01166	N	0.129	0.13484	0.100	0.84165	D	0.698	0.89587	D	10	0.07438043	0.11362	T	0.059211	0.67586	D	0.354	0.67510	0.497	0.58678	0.552850462401	0.54942	0.8482593398667344	0.84786	1.43513484205	0.85872	0.557674646378	0.46939	T	0.549538	0.84722	D	-0.0308198	0.47298	T	-0.282047	0.46595	T	0.0459325629837237	0.04771	T	0.910209	0.68443	D	0.025065795	0.01403	0.04807537	0.07062	0.025065795	0.01402	0.04807537	0.07062	-0.379	0.00548	T	0.04847358324312268	0.00752	0.056	0.00478	B	.;.;.;.;.	.;.;.;.;.	2.552722	0.33047	19.22	0.24234837832897135	0.01062	0.84217	0.43300	D	AEFBI	0.222483	0.34697	N	-0.645378019210941	0.17595	0.9067356	-0.40948380170743	0.24719	1.355196	0.321255425722644	0.19387	0.706548	0.73137	0	0.563428	0.19063	0	0.679469	0.61720	0	0.714379	0.83352	0	.	.	4.66	3.47	0.38831	2.182000	0.42186	4.148000	0.42131	0.756000	0.94297	0.987000	0.36337	1.000000	0.68203	0.999000	0.91618	0.9261:0.0:0.0738:0.0	11.277	0.48407	623	0.65786	Ion transport domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1945.33	33	chr12	51765852	.	A	G	1945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.134;DP=836;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.846;SOR=0.751	GT:AD:DP:GQ:PL	0/1:96,74:170:99:1959,0,2645	18	0	1	0
chr12	76346369	76346369	G	A	exonic	BBS10	.	nonsynonymous SNV	BBS10:NM_024685:exon2:c.C1616T:p.P539L	Bardet-Biedl syndrome 10, Autosomal recessive	4	1146	322	50	0	422	0.15549	.	.	.	177141	Bardet-Biedl_syndrome|not_specified|not_provided|Bardet-Biedl_syndrome_10	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	.	0.0551	0.0335463	0.0647	0.0125	0.0371	0.0001	0.0635	0.0792	0.0762	0.0918	0.0598699	9256	154602	rs35676114	0.0746	0.0746	0.0731	0.0761	0.1413	0.0742	0.0741	0.1333	0.1300	0.0125	0.0384	0.0794	0.0005	0.0596	0.1413	0.0791	0.0763	0.0957	0.0555	0.0556	0.0554	0.0557	0.0914	0.0545	0.0541	0.0844	0.0816	0.0144	0.0757	0.0501	0.0801	0.0004	0.0662	0.1156	0.0799	0.0602	0.0914	0.453	0.08917	T	0.369	0.16522	T	0.001	0.07471	B	0.0	0.01387	B	0.787526	0.09423	N	0.883658	1	0.08975	N	0.03	0.08032	N	-1.87	0.84415	D	-1.63	0.39119	N	0.033	0.00882	-0.9391	0.42759	T	0.062	0.25923	T	10	0.0018639565	0.00025	T	.	.	.	0.124	0.34239	.	.	.	.	0.2679530290946429	0.26708	0.0586897436536	0.06515	0.213595598936	0.00973	T	0.322653	0.69364	T	-0.575935	0.00204	T	-0.528887	0.19398	T	0.00279913554226781	0.00029	T	0.450755	0.12737	T	0.025135	0.01417	0.038665097	0.03786	0.0298414	0.02545	0.040621962	0.04432	-3.808	0.20924	T	0.09762239229038064	0.06889	0.08	0.07793	B	.;.	.;.	-0.019470	0.04151	0.994	0.61837539723277835	0.06809	0.05604	0.11509	N	AEFDBCIJ	0.043003	0.06745	N	-0.895660138183266	0.10945	0.5256198	-0.942612549275817	0.11094	0.5631424	0.999917383432791	0.45857	0.706298	0.61202	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.95	0.792	0.17769	0.305000	0.19006	1.034000	0.23503	0.676000	0.76740	0.000000	0.06391	0.338000	0.24408	0.027000	0.12703	0.4803:0.0:0.5197:0.0	8.240	0.30816	953	0.10115	.;.	BBS10|BBS10|BBS10|OSBPL8	Cells_Cultured_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs35676114	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	1	0	0	0	0.123867	0.070707	0.126359	0.160819	0.050000	0.137931	0.131098	0.128788	0.2368	21498.8	34	chr12	76346369	.	G	A	21498.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.283;DP=1399;ExcessHet=0.0031;FS=0;InbreedingCoeff=0.5632;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=23.68;ReadPosRankSum=-0.05;SOR=0.721	GT:AD:DP:GQ:PL	0/1:76,75:151:99:1996,0,2108	13	3	3	0
chr12	101766270	101766270	A	G	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon12:c.T1433C:p.I478T	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	713282	Mucolipidosis_type_II|Pseudo-Hurler_polydystrophy|not_provided	MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576|MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.266	0.0544605855198	0.0004	0.000399361	0.0007	0.0003	0	0	0	0.0005	0	0.0025	0.0006015	93	154602	rs149718548	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0005	0.0026	0.0025	8.963e-05	0.0003	0.0015	0	1.872e-05	0.0029	0.0004	0.0007	0.0029	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0002	0.0023	0.0019	4.813e-05	0	6.539e-05	0.0003	0	0	0.0034	0.0004	0.0005	0.0035	0.182	0.21801	T	0.489	0.11586	T	0.003	0.11197	B	0.005	0.11217	B	0.925238	0.08459	N	0.967326	1	0.08975	N	1.1	0.28011	L	-3.85	0.95859	D	-0.12	0.08809	N	0.169	0.17966	-0.3094	0.74722	T	0.584	0.85079	D	10	0.0063535273	0.00143	T	0.054461	0.65866	D	0.266	0.57999	.	.	0.365317461125	0.36143	0.5691773594388446	0.56845	0.28373127432	0.30810	0.301884233952	0.10682	T	0.075602	0.35216	T	-0.319188	0.06965	T	-0.235883	0.51200	T	0.00434952491633391	0.00046	T	0.874313	0.58483	D	0.024662929	0.01321	0.027240569	0.00862	0.024662929	0.01321	0.027240569	0.00862	-4.152	0.26053	T	0.09487341674740654	0.06396	0.080	0.07841	B	.	.	0.295647	0.06715	3.225	0.58841609734208611	0.06085	0.04924	0.10679	N	AEFBI	0.045895	0.07560	N	-1.29789030836205	0.03701	0.1658055	-1.3277398934604	0.04075	0.1914703	0.999975229042931	0.50053	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	-4.69	0.03061	-0.392000	0.07375	-0.108000	0.11862	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.572000	0.30699	0.2925:0.4172:0.2902:0.0	7.658	0.27550	471	0.78036	.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1797.33	34	chr12	101766270	.	A	G	1797.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.038;DP=763;ExcessHet=0;FS=1.334;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.28;SOR=0.556	GT:AD:DP:GQ:PL	0/1:68,76:144:99:1811,0,1661	18	0	1	0
chr12	102855154	102855154	C	T	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon6:c.G688A:p.V230I,PAH:NM_001354304:exon7:c.G688A:p.V230I	Phenylketonuria, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	YES	108520	not_provided|Phenylketonuria|PAH-related_disorder	MedGen:C3661900|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716|.	reviewed_by_expert_panel	Likely_pathogenic	.	.	.	.	.	.	.	.	0.512	0.242250572168	0.0002	.	0.0004	0	0.0003	0	0.0002	0.0003	0	0.0016	0.0003622	56	154602	rs62516152	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0003	0.0013	0.0012	2.987e-05	0.0004	0.0028	0.0001	0.0008	0.0023	0.0001	0.0008	0.0014	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	9.627e-05	0	0.0006	0.0009	0.0004	0.0007	0	0.0003	0.0019	0.0004	0.238	0.18122	T	0.365	0.16717	T	0.09	0.25173	B	0.022	0.19653	B	0.000001	0.62929	D	0.055923	1	0.81001	D	0.185	0.09099	N	-6.21	0.99572	D	-0.16	0.09460	N	0.373	0.41557	1.062	0.98388	D	0.920	0.97352	D	10	0.07067916	0.10316	T	0.242251	0.88752	D	0.512	0.79094	.	.	0.864028493511	0.86271	0.835844573274614	0.83544	0.0310148387879	0.03212	0.536185860634	0.43907	T	0.652911	0.89490	D	-0.0544566	0.43768	T	0.124373	0.78523	D	0.0279868235073283	0.01686	T	0.972903	0.90223	D	0.39920378	0.60677	0.1110115	0.26774	0.33593777	0.55954	0.11763171	0.28396	-4.024	0.24162	T	0.10387130477089043	0.08062	0.087	0.11366	B	.;.	.;.	2.527821	0.32673	19.11	0.98006251691503832	0.37521	0.88312	0.48183	D	AEFBI	0.789594	0.71873	D	-0.174495440160012	0.34200	1.949154	-0.0124763124035698	0.39149	2.316974	0.849897142339245	0.25024	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.47	5.47	0.80345	1.651000	0.36918	6.016000	0.52721	0.599000	0.40250	0.834000	0.30193	1.000000	0.68203	0.720000	0.34772	0.0:0.9278:0.0:0.0722	14.538	0.67561	528	0.73785	Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal;Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	1	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	959.33	40	chr12	102855154	.	C	T	959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=769;ExcessHet=0;FS=0.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=2.24;SOR=0.563	GT:AD:DP:GQ:PL	0/1:31,34:65:99:973,0,1126	18	0	1	0
chr12	114684071	114684071	-	GAGA	UTR5	TBX3	NM_016569:c.-872_-871insTCTC;NM_005996:c.-872_-871insTCTC	.	.	Ulnar-mammary syndrome, Autosomal dominant	183	10	1	20	12	53	0.672131	.	.	.	329647	Ulnar-mammary_syndrome|not_provided|TBX3-related_disorder	MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.531749	.	.	.	.	.	.	.	.	0.000461	12	26028	rs112192237	0.3711	0.0814	0.3707	0.3715	0.4265	0.3674	0.3658	0.4036	0.3945	0.1648	0.4265	0.4241	0.3475	0.3793	0.4067	0.3834	0.3747	0.3964	0.4430	0.4427	0.4419	0.4441	0.6223	0.4401	0.4390	0.6117	0.6074	0.1855	0.3440	0.6223	0.6177	0.4456	0.4555	0.6092	0.5353	0.5029	0.5668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	666.07	2	chr12	114684071	.	G	GGAGA	666.07	.	AC=7;AF=0.389;AN=18;BaseQRankSum=0;DP=48;ExcessHet=0.0125;FS=0;InbreedingCoeff=0.3584;MLEAC=11;MLEAF=0.611;MQ=60;MQRankSum=0;QD=30.28;ReadPosRankSum=1.38;SOR=0.724	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	5	3	1	10
chr12	119194705	119194705	-	TAA	UTR3	HSPB8	NM_014365:c.*847_*848insTAA	.	.	Charcot-Marie-Tooth disease, axonal, type 2L, Autosomal dominant;Neuropathy, distal hereditary motor, type IIA, Autosomal dominant	219	6	0	1	0	2	0.142857	.	.	.	323452	Charcot-Marie-Tooth_disease_type_2|not_provided|Distal_spinal_muscular_atrophy	MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.28734	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs138925224	0.2736	0.1794	0.2698	0.2770	0.3681	0.2713	0.2703	0.3527	0.3465	0.2787	0.3681	0.3465	0.1307	0.2204	0.3280	0.2885	0.2853	0.1222	0.3994	0.4015	0.4026	0.3961	0.4833	0.3967	0.3956	0.4740	0.4702	0.4007	0.3987	0.4833	0.4759	0.1852	0.3458	0.4857	0.4080	0.4475	0.2574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	270.08	.	chr12	119194705	.	T	TTAA	270.08	.	AC=2;AF=0.25;AN=8;DP=9;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.5;MQ=60;QD=26.42;SOR=3.912	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	3	1	0	15
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	Maturity_onset_diabetes_mellitus_in_young|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Type_2_diabetes_mellitus|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|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:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	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	.	.	.	.	.	.	.	.	0.5263	45289.9	207	chr12	120997672	.	G	A	45289.9	.	AC=20;AF=0.526;AN=38;BaseQRankSum=1.6;DP=2635;ExcessHet=5.5644;FS=0.544;InbreedingCoeff=-0.2667;MLEAC=20;MLEAF=0.526;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=0.206;SOR=0.636	GT:AD:DP:GQ:PL	0/1:69,83:152:99:2344,0,1748	3	4	12	0
chr12	132730335	132730397	CCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	-	intronic	ANKLE2	.	.	.	.	439	456	411	216	0	843	0.480342	.	.	.	791214	Microcephaly_16,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0014730,MedGen:C4225249,OMIM:616681,Orphanet:2512|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	0.3599	0.3308	0.3572	0.3627	0.3949	0.3590	0.3586	0.3800	0.3740	0.2624	0.3523	0.4405	0.1661	0.4326	0.3949	0.3654	0.3676	0.3689	0.4049	0.4061	0.4063	0.4035	0.4607	0.4022	0.4011	0.4564	0.4546	0.3189	0.5621	0.3897	0.4957	0.1763	0.4643	0.4558	0.4607	0.4041	0.4202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	12459.2	32	chr12	132730334	.	CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	C	12459.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.195;DP=701;ExcessHet=1.9883;FS=6.156;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=59.95;MQRankSum=0;QD=26.68;ReadPosRankSum=-0.79;SOR=0.372	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,16:32:99:.:.:629,0,619:.	5	4	10	0
chr13	38861420	38861420	-	TC	intronic	FREM2	.	.	.	Fraser syndrome, Autosomal recessive	16	1415	76	15	0	106	0.0361035	.	.	.	191739	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0190	0.00998403	0.0170	0.0089	0.0128	0	0.0150	0.0238	0.0275	0.0068	0.0031505	82	26028	rs1399473815	0.0204	0.0205	0.0206	0.0202	0.0562	0.0202	0.0201	0.0511	0.0492	0.0099	0.0150	0.0627	7.558e-05	0.0142	0.0562	0.0217	0.0231	0.0070	0.0168	0.0168	0.0170	0.0165	0.0208	0.0162	0.0160	0.0199	0.0195	0.0091	0.0428	0.0164	0.0649	0.0002	0.0129	0.0680	0.0208	0.0270	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2467.79	37	chr13	38861420	.	T	TTC	2467.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.77;DP=767;ExcessHet=0.119;FS=1.482;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=1.46;SOR=0.887	GT:AD:DP:GQ:PL	0/1:45,40:85:99:1536,0,1684	17	0	2	0
chr14	23389063	23389063	G	-	intronic	MYH6	.	.	.	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	.	.	.	.	.	.	.	.	.	.	45290	Hypertrophic_cardiomyopathy_2|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy_14|Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|MedGen:CN239310|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4104	0.6267	0.3795	0.4432	0.3604	0.3688	0.3815	0.4476	0.0001537	4	26028	rs1064795889	0.3084	0.3121	0.3093	0.3074	0.6162	0.3074	0.3071	0.6088	0.6057	0.6162	0.2497	0.2666	0.2601	0.2543	0.3139	0.2981	0.3229	0.3503	0.3533	0.3351	0.3610	0.3452	0.6120	0.3504	0.3492	0.6055	0.6028	0.6120	0.3180	0.2356	0.2344	0.1573	0.1787	0.2645	0.2170	0.3369	0.3167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	8671.05	40	chr14	23389062	.	AG	A	8671.05	.	AC=7;AF=0.194;AN=36;BaseQRankSum=1.78;DP=1043;ExcessHet=2.8258;FS=1.157;InbreedingCoeff=-0.1846;MLEAC=7;MLEAF=0.194;MQ=59.97;MQRankSum=0;QD=15.08;ReadPosRankSum=0.346;SOR=0.812	GT:AD:DP:GQ:PL	0/1:24,26:50:99:595,0,535	11	0	7	1
chr14	23419114	23419114	-	G	intronic	MYH7	.	.	.	Cardiomyopathy, dilated, 1S, Autosomal dominant;Cardiomyopathy, hypertrophic, 1, Autosomal dominant;Laing distal myopathy, Autosomal dominant;Left ventricular noncompaction 5, Autosomal dominant;Myopathy, myosin storage, autosomal dominant, Autosomal dominant;Myopathy, myosin storage, autosomal recessive, Autosomal recessive;Scapuloperoneal syndrome, myopathic type, Autosomal dominant	26	775	566	155	0	876	0.361088	.	.	.	45302	not_provided|Primary_familial_hypertrophic_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.337061	.	.	.	.	.	.	.	.	0.0472115	7299	154602	rs34598192	0.3369	0.3402	0.3403	0.3337	0.6339	0.3361	0.3357	0.6261	0.6230	0.6339	0.1960	0.3975	0.0549	0.2711	0.3041	0.3586	0.3420	0.2235	0.4076	0.4081	0.4199	0.3948	0.6311	0.4049	0.4038	0.6247	0.6221	0.6311	0.4068	0.2827	0.3834	0.0797	0.2623	0.3103	0.3624	0.4006	0.2148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	13691.1	34	chr14	23419114	.	T	TG	13691.1	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.025;DP=1146;ExcessHet=1.8686;FS=1.819;InbreedingCoeff=-0.0857;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=17.53;ReadPosRankSum=0.539;SOR=0.55	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1699,0,1499	10	1	8	0
chr14	49635130	49635130	G	A	exonic	DNAAF2	.	nonsynonymous SNV	DNAAF2:NM_001083908:exon1:c.C20T:p.S7F,DNAAF2:NM_018139:exon1:c.C20T:p.S7F	Ciliary dyskinesia, primary, 10	1	1508	12	1	0	14	0.00462046	.	.	.	213111	not_specified|Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_10	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012918,MedGen:C2675867,OMIM:612518,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0101136859413	.	0.000199681	0.0035	0	0	0	0	0.0003	0	0.0083	0.0006274	97	154602	rs577796590	0.0004	0.0004	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	8.074e-05	0	0	0	0.0027	2.118e-05	0.0004	0.0054	0.0002	0.0002	6.421e-05	0.0003	0.0046	0.0001	9.229e-05	0.0031	0.0026	2.404e-05	0	0	0	0	0	0	1.47e-05	0	0.0046	0.05	0.51248	D	0.009	0.66756	D	0.984	0.63424	D	0.819	0.64797	P	.	.	.	.	0.503356	0.31707	N	1.995	0.54099	M	2.13	0.19588	T	-2.59	0.55821	D	0.252	0.37509	-0.9685	0.37510	T	0.101	0.37366	T	9	0.009665161	0.00217	T	0.010114	0.26258	T	0.087	0.25287	0.236	0.16608	0.72927479191	0.72687	0.32184284644197647	0.32097	1.49514861928	0.86947	0.454433053732	0.32550	T	0.009171	0.08364	T	-0.424665	0.01598	T	-0.380721	0.35636	T	0.161524948219995	0.17983	T	0.788521	0.42806	T	0.25770622	0.48816	0.41075352	0.65327	0.2703388	0.50106	0.38223016	0.63215	-7.294	0.56622	T	0.6279663289246598	0.69704	0.181	0.40213	B	.;.	.;.	3.636900	0.51541	23.1	0.99738282586439153	0.83264	0.80795	0.40343	D	ALL	0.217682	0.34278	N	0.323490202971488	0.57354	3.902628	0.287540932565007	0.54810	3.645087	1.0	0.98316	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	5.28	5.28	0.74118	3.153000	0.50383	7.391000	0.58514	0.526000	0.24426	0.991000	0.37257	1.000000	0.68203	0.168000	0.20914	0.0:0.0:1.0:0.0	17.153	0.86663	840	0.37365	PIH1 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003550	0.000000	0.005479	0.002941	0.000000	0.000000	0.003086	0.003846	0.05263	1597.83	40	chr14	49635130	.	G	A	1597.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.42;DP=775;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.141;SOR=0.698	GT:AD:DP:GQ:PL	0/1:29,33:62:99:878,0,661	17	0	2	0
chr14	61740839	61740839	C	T	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon12:c.C1816T:p.P606S,HIF1A:NM_001530:exon12:c.C1744T:p.P582S,HIF1A:NM_181054:exon12:c.C1744T:p.P582S	.	426	797	258	41	0	340	0.175801	.	.	.	2736349	Cholangiocarcinoma|not_provided	Human_Phenotype_Ontology:HP:0030153,MONDO:MONDO:0019087,MeSH:D018281,MedGen:C0206698,Orphanet:70567|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.249	.	0.0877	0.0730831	0.0897	0.0381	0.0636	0.0437	0.0416	0.1068	0.1002	0.1139	0.0896301	13857	154602	rs11549465	0.0973	0.0973	0.0962	0.0983	0.1978	0.0968	0.0967	0.1883	0.1844	0.0355	0.0652	0.1605	0.0484	0.0413	0.1978	0.1014	0.1054	0.1100	0.0781	0.0782	0.0804	0.0757	0.1157	0.0769	0.0764	0.1077	0.1046	0.0361	0.1305	0.0843	0.1509	0.0481	0.0358	0.1599	0.1032	0.0970	0.1157	0.15	0.26300	T	0.107	0.37730	T	0.243	0.36725	B	0.225	0.42306	B	0.000163	0.48594	D	0.218644	0.004354	0.42787	P	0.2	0.09183	N	-1.98	0.85247	D	-3.12	0.67705	D	0.061	0.03502	-0.7937	0.55514	T	0.014	0.05561	T	9	0.002049476	0.00029	T	.	.	.	0.249	0.55752	.	.	.	.	0.2703759875243241	0.26950	0.18754449635	0.21074	0.613483905792	0.54808	T	0.791418	0.94585	D	-0.487373	0.00672	T	-0.386001	0.35020	T	0.0528159558020239	0.05987	T	0.89801	0.64352	D	0.20964694	0.43238	0.16643055	0.38449	0.20964694	0.43238	0.16643055	0.38448	-7.11	0.54832	T	.	.	0.105	0.27373	B	.;.;.;.;.	.;.;.;.;.	2.583508	0.33503	19.36	0.99454245710225975	0.65427	0.89101	0.49367	D	AEFDGBCI	0.388942	0.46836	N	-0.0795620720085574	0.38289	2.240306	0.0864541640548502	0.43865	2.679561	0.999999994130304	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.72	4.82	0.61641	2.789000	0.47504	3.324000	0.37570	0.594000	0.32500	0.799000	0.29708	1.000000	0.68203	0.997000	0.79791	0.1422:0.788:0.0:0.0698	9.682	0.39239	682	0.59757	.;.;.;.;.	FLJ22447|FLJ22447	Lung|Muscle_Skeletal	.	.	rs11549465	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.164653	0.121212	0.160326	0.228070	0.350000	0.232759	0.155488	0.143939	0.2368	22981.8	37	chr14	61740839	.	C	T	22981.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.447;DP=1945;ExcessHet=1.1637;FS=0.525;InbreedingCoeff=-0.0192;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.153;SOR=0.646	GT:AD:DP:GQ:PL	0/1:110,107:217:99:2955,0,3018	11	1	7	0
chr14	65101586	65101586	-	A	intronic	MAX	.	.	.	.	.	.	.	.	.	.	.	.	.	.	336630	Hereditary_cancer-predisposing_syndrome|not_specified|Hereditary_pheochromocytoma-paraganglioma|not_provided|Pheochromocytoma	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0508	.	0.0710	0.0532	0.0887	0.0444	0.0170	0.0629	0.0781	0.1255	0.0030352	79	26028	rs780409158	0.0418	0.1109	0.0440	0.0396	0.0456	0.0415	0.0413	0.0452	0.0450	0.0440	0.0292	0.0347	0.0241	0.0162	0.0278	0.0456	0.0404	0.0230	0.0022	0.0025	0.0022	0.0022	0.0049	0.0020	0.0019	0.0043	0.0041	0.0049	0	0.0023	0.0003	0.0008	0.0009	0.0069	0.0010	0.0030	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	80.76	14	chr14	65101586	.	G	GA	80.76	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.493;DP=449;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0848;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=0;SOR=0.661	GT:AD:DP:GQ:PL	0/1:19,3:22:15:15,0,445	16	0	3	0
chr14	67783430	67783430	C	T	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon21:c.G3722A:p.R1241Q	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1455	64	3	0	70	0.0234899	.	.	.	272829	not_specified|Spastic_paraplegia|Hereditary_spastic_paraplegia_15|not_provided|Hereditary_spastic_paraplegia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.111	0.00398806377251	0.0025	0.00139776	0.0028	0.0004	0.0018	0	0.0023	0.0040	0.0055	0.0021	0.0028266	437	154602	rs140756827	0.0033	0.0033	0.0032	0.0035	0.0258	0.0032	0.0032	0.0225	0.0212	0.0006	0.0031	0.0103	2.519e-05	0.0014	0.0258	0.0032	0.0050	0.0034	0.0026	0.0026	0.0027	0.0026	0.0044	0.0024	0.0023	0.0036	0.0033	0.0004	0	0.0044	0.0089	0	0.0011	0.0136	0.0035	0.0066	0.0033	0.126	0.28026	T	0.096	0.39799	T	0.992	0.64738	D	0.579	0.50152	P	0.888350	0.08705	N	0.940006	0.999901	0.19694	N	.	.	.	1.73	0.29085	T	-0.9	0.24244	N	0.054	0.02559	-1.0229	0.22769	T	0.053	0.22346	T	10	0.004694402	0.00099	T	0.003988	0.09462	T	0.111	0.31313	.	.	0.0401082797425	0.02173	0.10019050022814473	0.09950	0.189727535353	0.21295	0.199811726809	0.00451	T	0.011711	0.10405	T	-0.628677	0.00097	T	-0.674874	0.07299	T	0.0175978062271406	0.00492	T	0.664534	0.27348	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05668	B	.;.	.;.	0.215849	0.05988	2.429	0.98064975150461631	0.37975	0.03751	0.09056	N	AEFDGBI	0.085768	0.17389	N	-1.19752000019068	0.05038	0.2287309	-1.51220344515791	0.02250	0.1031851	0.999992551724546	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	-10.9	0.00151	-0.433000	0.07017	-2.135000	0.04161	-0.852000	0.02700	0.010000	0.18352	0.000000	0.08366	0.017000	0.10941	0.3101:0.2991:0.0:0.3909	5.626	0.16761	183	0.92871	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.023690	0.005051	0.027174	0.035088	0.000000	0.025862	0.030675	0.007576	0.05263	2296.83	33	chr14	67783430	.	C	T	2296.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.64;DP=818;ExcessHet=0.119;FS=0.536;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=2.28;SOR=0.755	GT:AD:DP:GQ:PL	0/1:39,31:70:99:816,0,940	17	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	6997.77	34	chr14	76500745	.	G	A	6997.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.36;DP=925;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.27;ReadPosRankSum=0.582;SOR=0.702	GT:AD:DP:GQ:PL	1/1:0,168:168:99:5198,504,0	17	1	1	0
chr14	92071009	92071009	-	G	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.68_69insC:p.P25Tfs*24,ATXN3:NM_001164774:exon3:c.233_234insC:p.P80Tfs*24,ATXN3:NM_001164777:exon3:c.113_114insC:p.P40Tfs*24,ATXN3:NM_001164776:exon4:c.278_279insC:p.P95Tfs*24,ATXN3:NM_001164778:exon6:c.431_432insC:p.P146Tfs*24,ATXN3:NM_001164779:exon6:c.553_554insC:p.G185Afs*12,ATXN3:NM_001164780:exon7:c.379_380insC:p.G127Afs*12,ATXN3:NM_001127697:exon8:c.763_764insC:p.G255Afs*12,ATXN3:NM_001164781:exon8:c.706_707insC:p.G236Afs*12,ATXN3:NM_001127696:exon9:c.871_872insC:p.G291Afs*12,ATXN3:NM_030660:exon9:c.751_752insC:p.G251Afs*12,ATXN3:NM_004993:exon10:c.916_917insC:p.G306Afs*12	Machado-Joseph disease, Autosomal dominant	98	926	380	118	0	616	0.249595	.	.	.	390136	ATXN3-related_disorder|Azorean_disease|not_specified|not_provided	.|MONDO:MONDO:0007182,MedGen:C0024408,OMIM:109150,Orphanet:98757|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3624	0.1685	0.3080	0.2350	0.3289	0.3820	0.3723	0.5076	0.0120639	314	26028	rs763461489	0.3602	0.2726	0.3598	0.3606	0.4269	0.3591	0.3586	0.4211	0.4187	0.2335	0.2356	0.4259	0.4269	0.3289	0.3968	0.3614	0.3556	0.3795	0.4786	0.4687	0.4802	0.4770	0.5397	0.4742	0.4724	0.5165	0.5072	0.4754	0.5068	0.4371	0.5341	0.4620	0.4534	0.4936	0.4840	0.4802	0.5397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	28143.3	34	chr14	92071009	.	C	CG	28143.3	.	AC=20;AF=0.556;AN=36;BaseQRankSum=-0.448;DP=1450;ExcessHet=0.463;FS=1.302;InbreedingCoeff=0.0997;MLEAC=21;MLEAF=0.583;MQ=59.46;MQRankSum=0;QD=26.91;ReadPosRankSum=0.566;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,54:100:99:.:.:1766,0,1328:.	4	6	8	1
chr15	34791308	34791311	CACA	-	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322319	Cardiovascular_phenotype|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.244808	.	.	.	.	.	.	.	.	0.0038036	99	26028	rs572654192	0.0856	0.1084	0.0840	0.0873	0.0998	0.0852	0.0850	0.0966	0.0953	0.0998	0.0810	0.1028	0.0190	0.1503	0.0970	0.0833	0.0926	0.0968	0.1173	0.1181	0.1162	0.1185	0.1258	0.1158	0.1151	0.1191	0.1182	0.1072	0.0878	0.1032	0.1344	0.0167	0.1954	0.1007	0.1214	0.1224	0.1258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	38094.6	96	chr15	34791307	.	TCACA	T	38094.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.584;DP=2645;ExcessHet=0.1204;FS=0.924;InbreedingCoeff=0.272;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=32.9;ReadPosRankSum=-0.06;SOR=0.854	GT:AD:DP:GQ:PL	0/1:23,37:76:99:1505,0,1007	14	0	5	0
chr15	42730756	42730756	C	T	exonic	CDAN1	.	synonymous SNV	CDAN1:NM_138477:exon14:c.G2016A:p.P672P	Dyserythropoietic anemia, congenital, type Ia, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	340481	Congenital_dyserythropoietic_anemia,_type_I|Anemia,_congenital_dyserythropoietic,_type_1a|not_provided	MONDO:MONDO:0020337,MedGen:C0271933,Orphanet:98869|MONDO:MONDO:0009135,MedGen:C5574667,OMIM:224120|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0001	0.0002	9.662e-05	0	0	0.0002	0	6.417e-05	0.0001164	18	154602	rs371799686	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0	0	0	0	0.0003	6.632e-05	5.814e-05	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0003	0	0	0	0	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.02632	1097.33	34	chr15	42730756	.	C	T	1097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=733;ExcessHet=0;FS=1.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.411;SOR=0.436	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1111,0,757	18	0	1	0
chr15	57439317	57439317	G	T	exonic	CGNL1	.	nonsynonymous SNV	CGNL1:NM_032866:exon2:c.G1318T:p.V440L,CGNL1:NM_001252335:exon3:c.G1318T:p.V440L	.	.	.	.	.	.	.	.	.	.	.	754555	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.095	0.00416385327018	0.0013	.	0.0002	0.0029	0	0	0	0	0.0011	0	0.0002264	35	154602	rs141686050	0.0001	0.0001	0.0001	9.351e-05	0.0035	8.78e-05	8.267e-05	0.0030	0.0028	0.0035	0.0002	0	0	0	0.0002	8.993e-07	0.0003	0	0.0008	0.0008	0.0008	0.0008	0.0029	0.0007	0.0007	0.0025	0.0023	0.0029	0	0.0003	0	0	0	0	0	0	0	0.089	0.32141	T	0.316	0.19362	T	0.01	0.15535	B	0.008	0.13708	B	0.001675	0.00812	N	3.127850	1	0.08975	N	1.445	0.36358	L	3.72	0.04014	T	-0.19	0.09965	N	0.127	0.12055	-0.9503	0.40920	T	0.009	0.03140	T	10	0.005564153	0.00123	T	0.004164	0.09995	T	0.095	0.27398	0.15	0.05339	0.0401082797425	0.02173	0.09401661497341653	0.09333	0.018240306212	0.01780	0.284642398357	0.08148	T	0.00595	0.05392	T	-0.70892	0.00032	T	-0.796328	0.01996	T	0.00754473843742541	0.00087	T	0.490951	0.15096	T	0.03665884	0.04553	0.03120116	0.01675	0.03665884	0.04553	0.03120116	0.01675	-2.784	0.08037	T	.	.	0.087	0.11414	B	.	.	-1.198305	0.00532	0.012	0.65818999454463278	0.07880	0.02604	0.07175	N	AEFBI	0.050602	0.08861	N	-1.83520308972683	0.00465	0.01999408	-1.89545945640261	0.00500	0.02214398	0.999985136443637	0.51787	0.744818	0.98587	0	0.573888	0.26702	0	0.732433	0.93434	0	0.655142	0.61905	0	.	.	5.41	-7.1	0.01394	-0.974000	0.03904	-5.216000	0.01803	-0.839000	0.02805	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3146:0.1618:0.2033:0.3203	0.166	0.00101	479	0.77495	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2452.33	151	chr15	57439317	.	G	T	2452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=2830;ExcessHet=0;FS=4.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=1.03;SOR=0.463	GT:AD:DP:GQ:PL	0/1:108,95:203:99:2466,0,2673	18	0	1	0
chr15	59256276	59256276	C	T	intronic	MYO1E	.	.	.	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	26	0	7	1489	0	2985	1	0	0	.	971023	not_specified|not_provided|Focal_segmental_glomerulosclerosis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9775	0.97504	0.9939	0.9331	0.9973	1	1	0.9998	0.9967	0.9999	0.950408	146935	154602	rs4508371	0.9981	0.9980	0.9978	0.9983	1.0000	0.9967	0.9961	0.9983	0.9976	0.9313	0.9973	1.0000	1.0000	1.0000	0.9970	0.9999	0.9960	0.9999	0.9812	0.9812	0.9812	0.9813	1.0000	0.9771	0.9753	0.9934	0.9908	0.9344	1.0000	0.9945	1.0000	1.0000	1.0000	0.9864	0.9997	0.9887	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	75303.4	194	chr15	59256276	.	C	T	75303.4	.	AC=38;AF=1;AN=38;BaseQRankSum=0.789;DP=2636;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=29.07;ReadPosRankSum=0.667;SOR=0.174	GT:AD:DP:GQ:PL	1/1:2,151:153:99:4322,420,0	0	19	0	0
chr15	68207980	68207983	ACAC	-	UTR3	CLN6	NM_017882:c.*160_*157delGTGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	205	10	0	6	5	17	0.375	.	.	.	341232	Neuronal_Ceroid-Lipofuscinosis,_Recessive|not_provided	MedGen:CN239323|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs141886537	0.4732	0.4569	0.4793	0.4678	0.5300	0.4716	0.4709	0.5278	0.5268	0.3809	0.4432	0.4817	0.1587	0.4999	0.4595	0.5300	0.4818	0.3368	0.4804	0.4792	0.4870	0.4734	0.5565	0.4774	0.4762	0.5518	0.5498	0.3924	0.4592	0.4948	0.4910	0.1749	0.5171	0.5274	0.5565	0.4919	0.3444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	2338.57	7	chr15	68207979	.	GACAC	G	2338.57	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-0.431;DP=87;ExcessHet=0.6653;FS=2.304;InbreedingCoeff=0.085;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=32.94;ReadPosRankSum=0.674;SOR=0.487	GT:AD:DP:GQ:PL	0/1:0,5:7:55:294,74,55	7	2	5	5
chr15	78513681	78513681	T	C	intronic	HYKK	.	.	.	.	1079	356	30	57	0	144	0.168224	.	.	YES	3495312	Chronic_obstructive_pulmonary_disease	Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	0.188898	.	.	.	.	.	.	.	.	0.275434	7169	26028	rs8034191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2722	0.2723	0.2756	0.2686	0.3510	0.2700	0.2691	0.3473	0.3458	0.1664	0.4068	0.2323	0.3453	0.0289	0.3321	0.4150	0.3510	0.2875	0.2353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	594.27	1	chr15	78513681	.	T	C	594.27	.	AC=8;AF=0.364;AN=22;DP=51;ExcessHet=0;FS=0;InbreedingCoeff=0.5853;MLEAC=11;MLEAF=0.5;MQ=60;QD=34.96;SOR=2.712	GT:AD:DP:GQ:PL	1/1:0,5:5:15:200,15,0	7	4	0	8
chr15	82538982	82538982	A	G	exonic	RPS17	.	synonymous SNV	RPS17:NM_001021:exon3:c.T159C:p.Y53Y	Diamond-Blackfan anemia 4, Autosomal dominant	21	707	596	198	0	992	0.412303	.	.	YES	409353	Diamond-Blackfan_anemia|not_specified	Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs6991	0.3098	0.3099	0.3048	0.3149	0.4205	0.3091	0.3088	0.4169	0.4154	0.1579	0.1629	0.3116	0.2790	0.3769	0.3362	0.3093	0.3116	0.4205	0.2641	0.2643	0.2614	0.2669	0.4165	0.2619	0.2610	0.4013	0.3951	0.1651	0.3936	0.2043	0.2966	0.2364	0.3693	0.3605	0.3087	0.2768	0.4165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3421	16878.2	153	chr15	82538982	.	A	G	16878.2	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.375;DP=1603;ExcessHet=1.7862;FS=0.523;InbreedingCoeff=-0.0523;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.582;SOR=0.751	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1262,0,1257	8	2	9	0
chr15	89648308	89648308	T	C	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon5:c.A1390G:p.I464V	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	7	1506	9	0	0	9	0.00297915	.	.	.	341485	Acrocallosal_syndrome	MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.139	0.153396277549	.	0.000399361	0.0015	0	0	0	0	0	0	0.0024	0.0001229	19	154602	rs570856269	0.0003	0.0003	0.0002	0.0004	0.0024	0.0003	0.0003	0.0021	0.0020	3.294e-05	0.0001	0	0	0	0.0023	0.0002	0.0004	0.0024	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	8.723e-05	0.0008	0.0006	4.813e-05	0	6.538e-05	0	0	0	0	0.0002	0	0.0017	0.313	0.13879	T	0.597	0.08025	T	0.043	0.21573	B	0.021	0.19346	B	0.000004	0.62929	U	0.000000	0.997687	0.44098	D	2.485	0.72352	M	-0.62	0.71895	T	-0.16	0.09460	N	0.203	0.22486	-0.7827	0.56149	T	0.264	0.63534	T	10	0.007978946	0.00181	T	0.153396	0.83467	D	0.139	0.37390	0.12	0.02719	0.682399439722	0.67969	0.24251828648780865	0.24165	0.0606905089599	0.06755	0.889000177383	0.95135	D	0.091074	0.38721	T	-0.383569	0.02957	T	-0.328985	0.41583	T	0.0542463964984042	0.06230	T	0.860314	0.55333	D	0.051097695	0.09334	0.05417529	0.09269	0.051097695	0.09334	0.05417529	0.09268	-1.877	0.02749	T	0.2586999643734568	0.34951	0.242	0.47578	B	.	.	2.701580	0.35291	19.86	0.9945232932422543	0.65325	0.97220	0.73400	D	AEFDBI	0.654661	0.62727	D	-0.243260025261783	0.31372	1.758486	-0.178331256621388	0.32335	1.838589	0.999997242732638	0.74766	0.696267	0.57585	0	0.547309	0.14657	0	0.691665	0.62940	0	0.604944	0.38103	0	.	.	4.39	3.26	0.36471	5.530000	0.66854	1.092000	0.23989	0.643000	0.52288	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:0.0853:0.0:0.9147	9.551	0.38475	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	358.33	41	chr15	89648308	.	T	C	358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.21;DP=764;ExcessHet=0;FS=3.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=0.107;SOR=1.238	GT:AD:DP:GQ:PL	0/1:30,18:48:99:372,0,829	18	0	1	0
chr16	10923958	10923958	T	C	UTR3	CIITA	NM_000246:c.*103T>C;NM_001286402:c.*103T>C;NM_001286403:c.*103T>C	.	.	Bare lymphocyte syndrome, type II, complementation group A, Autosomal recessive	1124	394	2	2	0	6	0.00755668	.	.	.	340411	MHC_class_II_deficiency|not_provided	MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00339457	.	.	.	.	.	.	.	.	0.0015977	247	154602	rs45617532	0.0111	0.0014	0.0139	0.0095	0.0107	0.0062	0.0048	0.0042	0.0027	0	0	0	0	0.0139	0	0.0107	0	0	0.0071	0.0071	0.0076	0.0067	0.0114	0.0068	0.0066	0.0108	0.0105	0.0017	0.0077	0.0048	0.0072	0	0.0062	0.0272	0.0114	0.0080	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	63.42	2	chr16	10923958	.	T	C	63.42	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.967;DP=55;ExcessHet=0;FS=0;InbreedingCoeff=-0.0957;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=21.14;ReadPosRankSum=0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/1:1,2:3:24:75,0,24	16	0	1	2
chr16	15725134	15725134	-	A	UTR3	NDE1	NM_001143979:c.*883_*884insA;NM_017668:c.*883_*884insA	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	324437	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs757597336	0.1707	0.1347	0.1695	0.1717	0.2049	0.1696	0.1691	0.2010	0.1994	0.1259	0.1616	0.1633	0.1415	0.1620	0.1554	0.1727	0.1654	0.2049	0.0641	0.0652	0.0636	0.0646	0.1044	0.0629	0.0625	0.1016	0.1005	0.1044	0.1014	0.0466	0.0431	0.0185	0.0385	0.0296	0.0487	0.0662	0.0833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2041.16	115	chr16	15725134	.	T	TA	2041.16	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.385;DP=2694;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6373;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.072;SOR=0.657	GT:AD:DP:GQ:PL	0/1:111,19:149:86:86,0,2485	11	0	8	0
chr16	23445970	23445970	A	-	intronic	COG7	.	.	.	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	334369	not_provided|Congenital_disorder_of_glycosylation|COG7_congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3899	0.3803	0.3566	0.3682	0.4249	0.3932	0.3811	0.3995	0.0002587	40	154602	rs71379679	0.3540	0.3620	0.3514	0.3567	0.3851	0.3531	0.3528	0.3797	0.3774	0.3470	0.3424	0.3544	0.3851	0.3561	0.3445	0.3513	0.3570	0.3803	0.2121	0.2083	0.2079	0.2167	0.3049	0.2100	0.2092	0.2916	0.2862	0.2187	0.1708	0.1807	0.1672	0.3049	0.2926	0.1352	0.1984	0.2037	0.2610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	3640.21	21	chr16	23445969	.	TA	T	3640.21	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.072;DP=876;ExcessHet=38.2876;FS=2.656;InbreedingCoeff=-0.8999;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=7.58;ReadPosRankSum=-0.114;SOR=0.889	GT:AD:DP:GQ:PL	0/1:21,16:46:99:299,0,402	1	0	18	0
chr16	47503085	47503085	G	A	exonic	PHKB	.	nonsynonymous SNV	PHKB:NM_000293:exon4:c.G400A:p.D134N,PHKB:NM_001363837:exon4:c.G400A:p.D134N,PHKB:NM_001031835:exon5:c.G379A:p.D127N	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, Autosomal recessive	1	1492	26	3	0	32	0.0106101	.	.	.	335076	not_provided|PHKB-related_disorder|Glycogen_storage_disease_IXb	MedGen:C3661900|.|MONDO:MONDO:0009868,MedGen:C0543514,OMIM:261750,Orphanet:79240	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.612	0.119092153512	0.0015	0.000599042	0.0019	0.0013	0.0034	0	0	0.0020	0.0023	0.0024	0.0017011	263	154602	rs144486825	0.0016	0.0016	0.0015	0.0017	0.0126	0.0016	0.0015	0.0102	0.0094	0.0012	0.0031	0	0	0.0002	0.0126	0.0016	0.0024	0.0021	0.0018	0.0018	0.0018	0.0018	0.0037	0.0016	0.0016	0.0029	0.0026	0.0013	0	0.0037	0	0	9.423e-05	0.0170	0.0020	0.0057	0.0023	0.068	0.35726	T	0.036	0.53072	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.53	0.73802	M	-3.19	0.93170	D	-2.31	0.51319	N	0.556	0.60325	0.892	0.95566	D	0.884	0.96159	D	10	0.026918948	0.00848	T	0.119092	0.79931	D	0.612	0.84826	.	.	0.962697865947	0.96230	0.5562157726102552	0.55548	0.354588915174	0.37230	0.78490960598	0.79669	T	0.392223	0.84110	T	-0.224093	0.17437	T	-0.0977215	0.63573	T	0.0264793189095047	0.01472	T	0.89811	0.67676	D	0.19138451	0.40763	0.18787888	0.42045	0.17169397	0.37817	0.17801599	0.40441	-6.645	0.51395	T	.	.	0.096	0.18456	B	.;.;.;.;.	.;.;.;.;.	5.364450	0.89950	31	0.99886081363215651	0.96126	0.98641	0.85033	D	AEFGBI	0.900939	0.84705	D	0.8341482854824	0.88186	9.485366	0.823857271462112	0.91399	10.86797	0.999999999999348	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	8.023000	0.89142	9.740000	0.81431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.648	0.95784	166	0.93555	GH15-like domain;.;.;GH15-like domain;GH15-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012601	0.010101	0.019022	0.011696	0.000000	0.008621	0.018405	0.000000	0.02632	1195.33	34	chr16	47503085	.	G	A	1195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=724;ExcessHet=0;FS=3.73;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.954;SOR=1.068	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1209,0,1426	18	0	1	0
chr16	56511263	56511263	T	C	exonic	BBS2	.	nonsynonymous SNV	BBS2:NM_001377456:exon3:c.A367G:p.I123V,BBS2:NM_031885:exon3:c.A367G:p.I123V	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive	7	1085	379	51	0	481	0.181441	.	.	YES	255825	Bardet-Biedl_syndrome|not_specified|Retinitis_pigmentosa_74|Bardet-Biedl_syndrome_1|not_provided|Bardet-Biedl_syndrome_2|Retinal_dystrophy	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MONDO:MONDO:0014692,MedGen:C4225281,OMIM:616562,Orphanet:791|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:C3661900|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.169	.	0.1954	0.263578	0.2092	0.2292	0.3062	0.4101	0.1777	0.1703	0.2080	0.1939	0.205702	31802	154602	rs11373	0.1869	0.1869	0.1878	0.1860	0.4109	0.1863	0.1861	0.4056	0.4034	0.2297	0.2862	0.2119	0.4109	0.1735	0.1505	0.1732	0.1982	0.1882	0.2072	0.2074	0.2067	0.2076	0.4000	0.2052	0.2045	0.3857	0.3798	0.2319	0.1020	0.2418	0.2044	0.4000	0.1837	0.1361	0.1761	0.2111	0.1922	0.562	0.06341	T	0.544	0.11829	T	.	.	.	.	.	.	0.006774	0.31811	N	0.376395	0.726341	0.29873	P	.	.	.	-1.58	0.81987	D	-0.24	0.11008	N	0.056	0.06454	-1.0141	0.25625	T	0.000	0.00011	T	9	0.0039009154	0.00074	T	.	.	.	0.169	0.43123	.	.	.	.	0.40657062324920235	0.40573	0.20816477634	0.23283	0.361940145493	0.19669	T	0.222663	0.58657	T	-0.576094	0.00204	T	-0.456476	0.26983	T	0.00215051843252122	0.00022	T	0.759724	0.38410	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00647	B	.;.	.;.	0.874631	0.12478	9.008	0.60179440470861367	0.06401	0.81298	0.40731	D	AEFBI	0.120463	0.23466	N	-0.808476354663507	0.13093	0.6426372	-0.64647875390651	0.18306	0.9772973	0.744928693620984	0.23270	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.9	0.542	0.16365	0.398000	0.20624	-0.822000	0.07291	0.654000	0.53741	0.997000	0.40164	0.001000	0.17328	0.854000	0.40426	0.0:0.3239:0.1315:0.5446	5.865	0.18019	453	0.79178	Ciliary BBSome complex subunit 2, N-terminal;.	OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT1E|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT4|OGFOD1|AMFR|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|OGFOD1	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	BBS2|NUDT21|BBS2|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2	Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Transverse|Heart_Left_Ventricle|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs11373	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.187311	0.237374	0.202446	0.140351	0.250000	0.172414	0.149390	0.200758	0.2632	15622.2	129	chr16	56511263	.	T	C	15622.2	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-0.303;DP=1545;ExcessHet=1.8686;FS=0;InbreedingCoeff=-0.0857;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.962;SOR=0.678	GT:AD:DP:GQ:PL	0/1:73,60:133:99:1609,0,2000	10	1	8	0
chr16	88733964	88733964	-	TCC	exonic	PIEZO1	.	nonframeshift insertion	PIEZO1:NM_001142864:exon17:c.2270_2271insGGA:p.E756_D757insE	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	0	218	7	0	1	8	0.0158014	.	.	.	1196173	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00439297	0.0109	0.0108	0.0111	0	0	0.0082	0	0.0150	0.0010758	28	26028	rs770832408	0.0059	0.0058	0.0057	0.0062	0.0200	0.0058	0.0058	0.0170	0.0159	0.0154	0.0063	0.0069	0.0007	0.0040	0.0200	0.0052	0.0076	0.0126	0.0086	0.0087	0.0085	0.0088	0.0152	0.0082	0.0081	0.0142	0.0138	0.0152	0.0088	0.0120	0.0093	0.0006	0.0028	0.0170	0.0054	0.0105	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	4365.75	33	chr16	88733964	.	G	GTCC	4365.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.839;DP=994;ExcessHet=0.3672;FS=1.515;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=0.446;SOR=0.747	GT:AD:DP:GQ:PL	0/1:44,37:81:99:1359,0,1687	16	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1199.31	27	chr16	89816740	.	A	AGGCCTTGCGTCGT	1199.31	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.637;DP=275;ExcessHet=0.6689;FS=2.854;InbreedingCoeff=0.0466;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-0.546;SOR=0.33	GT:AD:DP:GQ:PL	0/1:8,4:12:99:143,0,324	12	1	6	0
chr17	6425710	6425710	C	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033054:exon5:c.G716T:p.R239L,AIPL1:NM_001033055:exon5:c.G725T:p.R242L,AIPL1:NM_001285399:exon6:c.G869T:p.R290L,AIPL1:NM_001285400:exon6:c.G839T:p.R280L,AIPL1:NM_001285401:exon6:c.G833T:p.R278L,AIPL1:NM_001285402:exon6:c.G788T:p.R263L,AIPL1:NM_014336:exon6:c.G905T:p.R302L	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	1	1480	38	3	0	44	0.0146471	.	.	YES	76620	AIPL1-related_disorder|Leber_congenital_amaurosis_1|not_specified|not_provided|Leber_congenital_amaurosis_4	MedGen:CN239169|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	0.0394799728856	0.0005	0.00159744	0.0026	9.768e-05	0.0044	0	0	0.0017	0.0089	0.0087	0.0022898	354	154602	rs62637015	0.0016	0.0016	0.0013	0.0018	0.0094	0.0015	0.0015	0.0088	0.0086	0.0001	0.0040	0.0057	2.519e-05	2.106e-05	0.0090	0.0009	0.0025	0.0094	0.0013	0.0013	0.0012	0.0013	0.0085	0.0011	0.0011	0.0064	0.0057	0.0002	0	0.0031	0.0046	0	0	0.0034	0.0010	0.0052	0.0085	0.214	0.22920	T	0.252	0.32144	T	0.003	0.20130	B	0.006	0.19966	B	0.385035	0.13336	N	0.718610	1	0.81001	D	0.55	0.14455	N	-0.61	0.71779	T	-3.36	0.66549	D	0.086	0.16586	-1.1342	0.01592	T	0.132	0.44445	T	10	0.0067735612	0.00154	T	0.03948	0.58831	D	0.406	0.71869	.	.	0.434045841721	0.43020	0.42811152323532936	0.42728	0.233831914557	0.25922	0.291568279266	0.09150	T	0.257128	0.62812	T	-0.272105	0.11523	T	-0.157804	0.58549	T	0.0625567919696403	0.07565	T	0.337566	0.34567	T	0.20028594	0.41999	0.27257818	0.53170	0.2458464	0.47547	0.2033774	0.44410	-2.613	0.15123	T	0.16614760690030306	0.20640	0.129	0.36214	B	.;.;.;.;.;.	.;.;.;.;.;.	1.465544	0.18885	13.98	0.96059384047437069	0.28588	0.16297	0.19323	N	AEFBI	0.206018	0.33232	N	-0.939645002544192	0.09926	0.4720182	-0.905343940075263	0.11967	0.6129108	6.31791550540901E-5	0.04366	0.428477	0.06694	0	0.547309	0.14657	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.98	-3.89	0.03916	-0.221000	0.09208	-2.386000	0.03819	0.599000	0.40250	0.062000	0.21832	0.000000	0.08366	0.997000	0.79791	0.2438:0.3904:0.0:0.3658	4.532	0.11413	872	0.31118	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.005102	0.009511	0.005848	0.000000	0.008621	0.009146	0.007576	0.02632	1587.33	34	chr17	6425710	.	C	A	1587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.265;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.225;SOR=0.661	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1601,0,1511	18	0	1	0
chr17	18127112	18127112	C	T	exonic	MYO15A	.	synonymous SNV	MYO15A:NM_016239:exon7:c.C3979T:p.L1327L	Deafness, autosomal recessive 3, Autosomal recessive	0	1429	89	4	0	97	0.0328257	.	.	.	54910	not_provided|MYO15A-related_disorder|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_3	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.00179712	0.0019	0	0.0012	0	0	0.0011	0.0045	0.0081	0.0015912	246	154602	rs146245515	0.0012	0.0012	0.0009	0.0014	0.0132	0.0011	0.0011	0.0108	0.0099	8.961e-05	0.0011	0.0006	5.038e-05	3.749e-05	0.0132	0.0006	0.0024	0.0081	0.0010	0.0010	0.0009	0.0011	0.0106	0.0009	0.0008	0.0083	0.0074	4.814e-05	0	0.0022	0.0017	0	0	0.0102	0.0007	0.0033	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.009063	0.000000	0.006793	0.011696	0.000000	0.008621	0.012195	0.018939	0.02632	2004.33	92	chr17	18127112	.	C	T	2004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.513;DP=1100;ExcessHet=0;FS=1.384;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-0.042;SOR=0.722	GT:AD:DP:GQ:PL	0/1:60,71:131:99:2018,0,1636	18	0	1	0
chr17	18130817	18130817	-	GT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327562	not_specified|Hearing_loss,_autosomal_recessive|not_provided	MedGen:CN169374|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs1491181087	0.0508	0.0762	0.0487	0.0530	0.0674	0.0505	0.0503	0.0640	0.0633	0.0610	0.0556	0.0884	0.0385	0.0916	0.0674	0.0454	0.0670	0.0656	0.1518	0.1577	0.1527	0.1507	0.1608	0.1497	0.1488	0.1564	0.1547	0.1608	0.1330	0.1588	0.1560	0.0561	0.1838	0.1758	0.1499	0.1741	0.1314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	9986.06	19	chr17	18130817	.	A	AGT	9986.06	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0;DP=1961;ExcessHet=0.7564;FS=2.674;InbreedingCoeff=-0.1176;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=-0.267;SOR=0.411	GT:AD:DP:GQ:PL	0/1:8,9:23:45:339,0,127	10	0	9	0
chr17	19909228	19909228	T	C	exonic	AKAP10	.	nonsynonymous SNV	AKAP10:NM_001330152:exon13:c.A1762G:p.I588V,AKAP10:NM_007202:exon14:c.A1936G:p.I646V	.	429	489	464	140	0	744	0.432056	.	.	.	20443	Reclassified_-_variant_of_unknown_significance|AKAP10-related_disorder	.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.120	.	0.4504	0.39397	0.3737	0.5879	0.4229	0.1824	0.3464	0.3790	0.3377	0.2956	0.373016	57669	154602	rs203462	0.3854	0.3855	0.3891	0.3817	0.5952	0.3846	0.3842	0.5883	0.5855	0.5952	0.4193	0.3679	0.2016	0.3461	0.4069	0.3927	0.3889	0.3035	0.4277	0.4279	0.4312	0.4241	0.5838	0.4250	0.4238	0.5777	0.5751	0.5838	0.3626	0.4303	0.3698	0.1901	0.3480	0.4150	0.3766	0.4152	0.2874	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.000000	0.999797	0.20333	P	-2.015	0.00187	N	2.01	0.21291	T	0.31	0.04022	N	0.118	0.10769	-0.9687	0.37468	T	0.000	0.00011	T	9	5.4074975e-05	0.00009	T	.	.	.	0.120	0.33359	.	.	.	.	0.1933210593021231	0.19250	0.178928352935	0.20133	0.692670106888	0.66089	T	0.062406	0.31909	T	-0.636176	0.00088	T	-0.542779	0.18025	T	0.00597241672880667	0.00066	T	0.305869	0.05863	T	0.049374104	0.08756	0.061363425	0.11835	0.049374104	0.08756	0.061363425	0.11835	-1.044	0.01049	T	.	.	0.048	0.00179	B	.;.	.;.	1.819896	0.23127	15.90	0.48678567446506221	0.04082	0.07005	0.13031	N	AEFGBI	0.025493	0.01754	N	-0.652311836236643	0.17393	0.8946286	-0.344221069595134	0.26688	1.475766	0.998595863275224	0.37268	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.88	5.88	0.94564	3.391000	0.52271	5.998000	0.52441	-0.192000	0.09343	0.976000	0.34826	1.000000	0.68203	0.953000	0.50222	0.0:0.9244:0.0:0.0756	12.685	0.56308	587	0.69154	A-kinase anchor protein 10, PKA-binding (AKB) domain;A-kinase anchor protein 10, PKA-binding (AKB) domain	RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|AKAP10|RP11-209D14.2|RP11-78O7.2|AKAP10|RP11-209D14.2|CCDC144CP|RP11-78O7.2|RP11-78O7.2|RP11-78O7.2|CCDC144CP|RP11-78O7.2|USP32P3|RP11-78O7.2|RP11-78O7.2|CCDC144CP|USP32P3|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|RP11-78O7.2|RP11-78O7.2|AKAP10|LGALS9B|KRT16P3|RP11-78O7.2|AKAP10|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|AKAP10|RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|CCDC144CP|AKAP10|LGALS9B|RP11-78O7.2|AKAP10|RP11-78O7.2|LGALS9B|RP11-209D14.2|CCDC144CP|USP32P3|SRP68P3|NOS2P3|AC008088.4|RP11-78O7.2|AKAP10|CCDC144CP|USP32P3|RP11-209D14.4|AKAP10|LGALS9B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|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|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	AKAP10|CCDC144CP|CCDC144CP|CCDC144CP|CCDC144CP|KRT16P3|CCDC144CP|KRT17P7	Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Esophagus_Mucosa|Testis|Testis	rs203462	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	0.427923	0.474747	0.483696	0.461988	0.350000	0.431034	0.300613	0.378788	0.3421	15712.2	129	chr17	19909228	.	T	C	15712.2	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-0.399;DP=1420;ExcessHet=1.7862;FS=1.103;InbreedingCoeff=-0.0523;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.447;SOR=0.638	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3595,360,0	8	2	9	0
chr17	21300880	21300880	C	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon5:c.C199T:p.R67W,MAP2K3:NM_145109:exon5:c.C286T:p.R96W,MAP2K3:NM_001316332:exon6:c.C199T:p.R67W	.	430	38	1047	7	0	1061	0.933157	.	.	.	1770503	not_specified|MAP2K3-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.375	.	.	.	0.4998	0.4999	0.4997	0.4986	0.5	0.4999	0.5	0.4999	0.0238677	3690	154602	rs56216806	0.4983	0.4983	0.4982	0.4985	0.4998	0.4974	0.4970	0.4969	0.4964	0.4981	0.4998	0.4992	0.4996	0.4998	0.4996	0.4980	0.4987	0.4994	0.5000	0.5000	0.5000	0.5000	0.5000	0.4970	0.4958	0.4955	0.4937	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.0	0.91255	D	0.043	0.56640	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999999	0.58761	D	2.88	0.83451	M	-0.23	0.66652	T	-4.91	0.82141	D	0.699	0.70351	-0.9444	0.41911	T	0.000	0.00011	T	10	0.0043037534	0.00087	T	.	.	.	0.375	0.69358	.	.	.	.	0.7188625825101859	0.71829	0.606269731864	0.55478	0.820443630219	0.85095	D	0.403427	0.76018	T	0.346235	0.86252	D	0.259566	0.86071	D	0.0378888073466841	0.03313	T	0.914509	0.70203	D	0.8805352	0.89711	0.8318533	0.90306	0.8805352	0.89712	0.8318533	0.90306	-15.158	0.96694	D	.	.	0.905	0.83091	P	.;.;.;.;.	.;.;.;.;.	5.775915	0.93501	33	0.98723007320009115	0.45230	0.81548	0.40929	D	AEFGBCI	0.787610	0.71734	D	0.664275873630775	0.77296	6.647485	0.610880277044446	0.75730	6.36224	0.999999998268304	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.716000	0.61607	5.995000	0.52393	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1566:0.8434:0.0:0.0	13.451	0.60626	824	0.40336	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.497986	0.494949	0.501359	0.497076	0.500000	0.500000	0.493902	0.500000	0.5	81486.4	356	chr17	21300880	.	C	T	81486.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.85;DP=4853;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=0.156;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,126:249:99:0|1:21300875_G_T:4888,0,4637:21300875	0	0	19	0
chr17	41757752	41757752	G	A	exonic	JUP	.	synonymous SNV	JUP:NM_001352773:exon11:c.C1806T:p.R602R,JUP:NM_001352774:exon11:c.C1806T:p.R602R,JUP:NM_001352775:exon11:c.C1806T:p.R602R,JUP:NM_001352777:exon11:c.C1806T:p.R602R,JUP:NM_002230:exon11:c.C1806T:p.R602R,JUP:NM_021991:exon11:c.C1806T:p.R602R,JUP:NM_001352776:exon12:c.C1806T:p.R602R	Arrhythmogenic right ventricular dysplasia 12, Autosomal dominant;Naxos disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	338363	Arrhythmogenic_right_ventricular_dysplasia_12|Naxos_disease|Cardiovascular_phenotype	MONDO:MONDO:0012684,MedGen:C1969081,OMIM:611528|MONDO:MONDO:0011017,MedGen:C1832600,OMIM:601214,Orphanet:34217|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	6.088e-05	0	0	0	0	9.406e-05	0	6.749e-05	4.53e-05	7	154602	rs781934535	1.781e-05	1.847e-05	1.09e-05	2.479e-05	6.974e-05	1.239e-05	1.053e-05	3.001e-05	2.042e-05	0	2.243e-05	0	0	0	0	1.53e-05	3.318e-05	6.974e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.02632	1349.33	37	chr17	41757752	.	G	A	1349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.577;DP=1277;ExcessHet=0;FS=5.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-1.333;SOR=0.725	GT:AD:DP:GQ:PL	0/1:62,51:113:99:1363,0,1626	18	0	1	0
chr17	63964507	63964507	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon9:c.G1413A:p.M471I	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	1	1503	17	1	0	19	0.00628099	.	.	.	339683	Congenital_myasthenic_syndrome_16|Hypokalemic_periodic_paralysis,_type_2|Potassium-aggravated_myotonia|Familial_hyperkalemic_periodic_paralysis|not_provided|Paramyotonia_congenita_of_Von_Eulenburg	MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681|MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MedGen:C3661900|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.458	0.20939919042	.	0.000798722	0.0007	0	0	0	0	0.0003	0.0011	0.0039	0.0005886	91	154602	rs527384137	0.0003	0.0003	0.0002	0.0004	0.0045	0.0003	0.0003	0.0032	0.0029	0	2.236e-05	0.0005	0	1.873e-05	0.0045	7.825e-05	0.0005	0.0034	0.0001	0.0002	7.706e-05	0.0002	0.0029	9.733e-05	8.249e-05	0.0018	0.0014	0	0	0	0.0006	0	0	0.0034	5.879e-05	0.0005	0.0029	0.101	0.30375	T	0.341	0.17964	T	0.889	0.48869	P	0.341	0.42432	B	0.000025	0.55875	D	0.157058	0.558257	0.32191	D	0.72	0.18721	N	-3.84	0.95826	D	-1.61	0.38734	N	0.292	0.33030	0.548	0.91205	D	0.727	0.90665	D	10	0.012795389	0.00274	T	0.209399	0.87197	D	0.458	0.75619	0.477	0.55502	0.813402561589	0.81164	0.3318528599119761	0.33098	0.27892697211	0.30372	0.485950410366	0.36878	T	0.374278	0.73811	T	-0.171903	0.24946	T	-0.0211762	0.68951	D	0.100660812212562	0.12430	T	0.940956	0.77922	D	0.46488395	0.64975	0.49076197	0.70540	0.46488395	0.64975	0.49076197	0.70540	-6.067	0.46836	T	0.09103757524593284	0.05734	0.627	0.69995	P	.	.	3.252728	0.44454	21.9	0.98419421969431442	0.41266	0.84311	0.43393	D	AEFDGBI	0.292559	0.40340	N	0.215408235574135	0.51946	3.372059	0.279162730105717	0.54324	3.59776	0.0505720881189988	0.14844	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.9	4.9	0.63643	1.695000	0.37381	4.034000	0.41364	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.1606:0.6615:0.1779:0.0	8.495	0.32282	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.050000	0.000000	0.000000	0.007576	0.02632	1406.33	33	chr17	63964507	.	C	T	1406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.744;DP=745;ExcessHet=0;FS=1.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-1.209;SOR=0.913	GT:AD:DP:GQ:PL	0/1:45,54:99:99:1420,0,1245	18	0	1	0
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	6	48	368	1100	0	2568	0.963964	.	.	.	1182690	not_provided|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8421	62918.4	187	chr17	80184264	.	G	A	62918.4	.	AC=32;AF=0.842;AN=38;BaseQRankSum=-0.35;DP=2370;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.2083;MLEAC=32;MLEAF=0.842;MQ=60;MQRankSum=0;QD=27.99;ReadPosRankSum=0.48;SOR=0.776	GT:AD:DP:GQ:PL	1/1:0,117:117:99:3972,351,0	1	14	4	0
chr17	80202434	80202434	T	A	UTR3	CARD14	NM_001257970:c.*10T>A	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	3	581	641	245	52	1183	0.49324	.	.	.	390303	not_specified|Psoriasis_2|Pityriasis_rubra_pilaris|not_provided	MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4160	0.35623	0.4195	0.2494	0.2489	0.4706	0.4337	0.4886	0.4391	0.3357	0.411004	63542	154602	rs8069255	0.4789	0.4785	0.4821	0.4756	0.5504	0.4779	0.4775	0.5443	0.5418	0.2463	0.2746	0.4213	0.5504	0.4314	0.4130	0.5079	0.4544	0.3360	0.4042	0.4042	0.4084	0.3999	0.5012	0.4015	0.4004	0.4967	0.4949	0.2537	0.7039	0.3372	0.4129	0.4998	0.4307	0.3946	0.5012	0.4019	0.3226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	26991.2	139	chr17	80202434	.	T	A	26991.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.364;DP=1567;ExcessHet=0.463;FS=1.308;InbreedingCoeff=0.1556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=21.04;ReadPosRankSum=0.691;SOR=0.58	GT:AD:DP:GQ:PL	0/1:45,57:102:99:1628,0,1208	6	5	8	0
chr17	80205094	80205094	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_024110:exon18:c.C2458T:p.R820W,CARD14:NM_001366385:exon21:c.C2458T:p.R820W	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	50	677	568	227	0	1022	0.430135	.	.	YES	390229	Autoinflammatory_syndrome|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	.	0.4093	0.353035	0.4244	0.2458	0.2536	0.4728	0.4509	0.4913	0.4363	0.3466	0.416469	64387	154602	rs11652075	0.4774	0.4773	0.4804	0.4744	0.5465	0.4765	0.4761	0.5404	0.5379	0.2319	0.2729	0.4216	0.5465	0.4308	0.4053	0.5063	0.4514	0.3424	0.3995	0.3997	0.4035	0.3954	0.4991	0.3969	0.3958	0.4946	0.4928	0.2409	0.7044	0.3346	0.4127	0.4952	0.4305	0.3844	0.4991	0.4020	0.3313	0.004	0.65419	D	0.035	0.52389	D	0.912	0.50421	P	0.17	0.35299	B	0.044886	0.23592	N	0.424901	0.99932	0.21372	P	1.04	0.26193	L	3.41	0.05574	T	-3.87	0.72594	D	0.111	0.10626	-0.9523	0.40573	T	0.000	0.00011	T	9	0.00018051267	0.00010	T	.	.	.	0.108	0.30607	.	.	.	.	0.6907763373857173	0.69017	0.3656648137	0.38159	0.328153610229	0.14655	T	0.159702	0.50324	T	-0.676618	0.00050	T	-0.600871	0.12738	T	0.0284327208824887	0.01751	T	0.822018	0.48145	T	0.073126465	0.16318	0.09188487	0.21627	0.08949082	0.20911	0.07744421	0.17251	-9.283	0.69500	D	0.35371682974795465	0.45071	0.107	0.20117	B	.;.;.	.;.;.	2.706086	0.35358	19.88	0.99284288146199018	0.58008	0.56796	0.30209	D	AEFDBCI	0.414520	0.48375	N	-0.377503514459143	0.26272	1.432592	-0.419791073847034	0.24417	1.336925	0.753767999298708	0.23401	0.554377	0.28877	0	0.550933	0.16991	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.09	1.85	0.24418	2.561000	0.45567	2.570000	0.33360	-0.249000	0.07183	0.963000	0.33788	0.978000	0.30204	0.008000	0.08271	0.3814:0.4907:0.0:0.128	4.371	0.10680	862	0.33134	.;.;.	CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood	RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|SGSH|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|SGSH	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	rs11652075	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.422805	0.408163	0.445504	0.473684	0.350000	0.456897	0.380368	0.367424	0.4474	45386.8	286	chr17	80205094	.	C	T	45386.8	.	AC=17;AF=0.447;AN=38;BaseQRankSum=0.493;DP=2511;ExcessHet=0.1862;FS=0;InbreedingCoeff=0.2549;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=20.54;ReadPosRankSum=0.31;SOR=0.696	GT:AD:DP:GQ:PL	0/1:105,69:174:99:1824,0,3989	7	5	7	0
chr17	80208119	80208119	C	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	2	1229	268	23	0	314	0.113276	.	.	.	1158191	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	.	.	.	.	.	.	.	.	.	.	0.0888	0.0720847	0.1526	0.0280	0.1084	0.0075	0.2308	0.1873	0.1186	0.1770	0.0424962	6570	154602	rs111745899	0.1426	0.1377	0.1425	0.1428	0.1531	0.1421	0.1419	0.1525	0.1522	0.0236	0.0832	0.1421	0.0128	0.1780	0.1180	0.1531	0.1319	0.1183	0.1098	0.1098	0.1093	0.1102	0.1530	0.1084	0.1078	0.1505	0.1495	0.0271	0.1371	0.1085	0.1509	0.0098	0.1816	0.1463	0.1530	0.1191	0.1250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3679.77	34	chr17	80208119	.	C	A	3679.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.581;DP=802;ExcessHet=0;FS=4.596;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=24.05;ReadPosRankSum=0.643;SOR=0.396	GT:AD:DP:GQ:PL	0/1:38,34:72:99:906,0,1042	17	1	1	0
chr18	2920363	2920363	C	A	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon20:c.G2621T:p.C874F,LPIN2:NM_001375809:exon20:c.G2621T:p.C874F,LPIN2:NM_014646:exon20:c.G2621T:p.C874F	Majeed syndrome	0	1481	39	2	0	43	0.0143095	.	.	.	232039	LPIN2-related_disorder|not_provided|Majeed_syndrome|Autoinflammatory_syndrome	.|MedGen:C3661900|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.362	0.0242335918851	0.0002	0.00179712	0.0015	9.701e-05	0.0002	0	0	0.0004	0.0022	0.0088	0.0012807	198	154602	rs201160155	0.0008	0.0008	0.0006	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	0.0001	0.0002	0.0002	2.519e-05	0	0.0057	0.0003	0.0011	0.0092	0.0004	0.0004	0.0003	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	2.405e-05	0	6.533e-05	0	0	0	0.0034	0.0003	0.0005	0.0087	0.205	0.20002	T	0.71	0.05525	T	0.011	0.15914	B	0.015	0.17295	B	0.000167	0.48594	D	0.270733	0.999983	0.54805	D	2.12	0.58754	M	-1.41	0.80560	T	-6.6	0.92042	D	0.258	0.29197	-0.4306	0.71047	T	0.384	0.74002	T	10	0.008627355	0.00195	T	0.024234	0.47226	T	0.362	0.68230	.	.	0.416204396243	0.41236	0.8197850407621243	0.81935	0.360878218772	0.37748	0.71268081665	0.68982	T	0.325968	0.69663	T	-0.283188	0.10333	T	-0.172875	0.57180	T	0.0576534892228963	0.06794	T	0.89551	0.63622	D	0.47934437	0.65860	0.48347694	0.70096	0.47934437	0.65861	0.48347694	0.70096	-8.199	0.62419	D	0.09303421256937064	0.06075	0.101	0.17657	B	.	.	3.219975	0.43869	21.8	0.90758231324376637	0.20008	0.91134	0.52927	D	AEFDGBCI	0.578082	0.57943	D	0.0216641723337433	0.42839	2.588929	0.191777639853672	0.49395	3.143227	0.999999985977376	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.62	4.74	0.59717	1.656000	0.36971	4.817000	0.45088	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9287:0.0:0.0713	14.305	0.65932	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.008621	0.006098	0.007576	0.05263	2032.83	37	chr18	2920363	.	C	A	2032.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.286;DP=810;ExcessHet=0.119;FS=1.214;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.946;SOR=0.821	GT:AD:DP:GQ:PL	0/1:42,34:76:99:867,0,1148	17	0	2	0
chr18	23943926	23943926	G	A	exonic	LAMA3	.	synonymous SNV	LAMA3:NM_001127718:exon31:c.G4170A:p.L1390L,LAMA3:NM_000227:exon32:c.G4338A:p.L1446L,LAMA3:NM_001127717:exon68:c.G8997A:p.L2999L,LAMA3:NM_198129:exon69:c.G9165A:p.L3055L	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	741323	Laryngo-onycho-cutaneous_syndrome|Junctional_epidermolysis_bullosa_gravis_of_Herlitz|not_provided|LAMA3-related_disorder	MONDO:MONDO:0009513,MedGen:C1328355,OMIM:245660,Orphanet:2407|MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.00579073	0.0032	0.0003	0.0002	0.0008	0	7.51e-05	0.0022	0.0223	0.0028072	434	154602	rs370470226	0.0016	0.0016	0.0010	0.0022	0.0227	0.0015	0.0015	0.0219	0.0215	0.0002	6.708e-05	0	0.0002	1.872e-05	0.0014	0.0001	0.0025	0.0227	0.0009	0.0009	0.0006	0.0013	0.0222	0.0008	0.0008	0.0188	0.0175	0.0003	0	0.0004	0	0	0	0	8.82e-05	0.0052	0.0222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.002026	0.000000	0.000000	0.002941	0.000000	0.000000	0.003106	0.000000	0.02632	1072.33	34	chr18	23943926	.	G	A	1072.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.309;DP=707;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.97;SOR=0.566	GT:AD:DP:GQ:PL	0/1:42,41:83:99:1086,0,1144	18	0	1	0
chr19	5831623	5831623	G	T	exonic	FUT6	.	stopgain	FUT6:NM_001040701:exon2:c.C945A:p.Y315X,FUT6:NM_001381957:exon2:c.C945A:p.Y315X,FUT6:NM_000150:exon3:c.C945A:p.Y315X,FUT6:NM_001381955:exon3:c.C945A:p.Y315X,FUT6:NM_001381959:exon3:c.C945A:p.Y315X,FUT6:NM_001369502:exon4:c.C945A:p.Y315X,FUT6:NM_001369504:exon4:c.C945A:p.Y315X,FUT6:NM_001369505:exon4:c.C945A:p.Y315X,FUT6:NM_001381956:exon4:c.C945A:p.Y315X,FUT6:NM_001381958:exon5:c.C945A:p.Y315X	Fucosyltransferase 6 deficiency	2	1482	36	2	0	40	0.0133156	.	.	.	227409	not_provided|Fucosyltransferase_6_deficiency	MedGen:C3661900|MONDO:MONDO:0013462,MedGen:C3151219,OMIM:613852	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0056	0.0289537	0.0177	0.0033	0.0047	0.0690	0.0009	0.0068	0.0191	0.0595	0.0157566	2436	154602	rs145035679	0.0100	0.0100	0.0084	0.0115	0.0561	0.0098	0.0098	0.0548	0.0543	0.0022	0.0054	0.0253	0.0488	0.0011	0.0148	0.0050	0.0178	0.0561	0.0085	0.0085	0.0079	0.0090	0.0620	0.0081	0.0079	0.0565	0.0543	0.0031	0.0055	0.0063	0.0268	0.0620	0.0011	0	0.0052	0.0095	0.0531	.	.	.	.	.	.	.	.	.	.	.	.	0.000060	0.53742	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.712	0.71498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23637	0.77319	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive|Recessive	.;.;.;.;High|High	7.770720	0.96845	36	0.99036869004821815	0.50939	0.95893	0.66609	D	AEFBI	0.105420	0.21064	N	0.295419678082104	0.55916	3.755734	-0.0017376384826292	0.39638	2.35322	0.891894201422631	0.25870	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.11	3.11	0.34883	2.739000	0.47083	1.247000	0.25145	0.595000	0.32841	0.997000	0.40164	0.999000	0.35428	0.086000	0.17578	0.0:0.0:1.0:0.0	12.435	0.54931	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015625	0.010101	0.020380	0.005848	0.000000	0.025862	0.003067	0.026515	0.07895	7924.79	34	chr19	5831623	.	G	T	7924.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.74;DP=1346;ExcessHet=0.3672;FS=1.108;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=55.19;MQRankSum=0.874;QD=13.3;ReadPosRankSum=0.378;SOR=0.609	GT:AD:DP:GQ:PL	0/1:110,118:228:99:3193,0,2815	16	0	3	0
chr19	49211240	49211240	C	T	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321285:exon19:c.C2549T:p.P850L,TRPM4:NM_001321281:exon22:c.C3266T:p.P1089L,TRPM4:NM_001321283:exon22:c.C3089T:p.P1030L,TRPM4:NM_001195227:exon23:c.C3176T:p.P1059L,TRPM4:NM_001321282:exon23:c.C2003T:p.P668L,TRPM4:NM_017636:exon24:c.C3611T:p.P1204L	Progressive familial heart block, type IB, Autosomal dominant	0	1510	10	2	0	14	0.00461437	.	.	.	377844	not_provided|not_specified|Conduction_disorder_of_the_heart|Progressive_familial_heart_block_type_IB|Family_history_of_sudden_cardiac_death|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100042,MedGen:C0264886,OMIM:115080,Orphanet:871|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:C2825161|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	.	0.0022	0.00159744	0.0038	0.0002	0.0032	0.0017	0.0144	0.0051	0.0025	0.0012	0.0027361	423	154602	rs150391806	0.0032	0.0032	0.0032	0.0031	0.0056	0.0031	0.0031	0.0041	0.0035	0.0005	0.0028	0.0053	0	0.0085	0.0056	0.0031	0.0040	0.0019	0.0031	0.0031	0.0029	0.0033	0.0039	0.0029	0.0028	0.0035	0.0034	0.0005	0	0.0032	0.0046	0	0.0101	0.0170	0.0039	0.0033	0.0006	0.212	0.19500	T	0.014	0.63109	D	0.643	0.43436	P	0.106	0.33210	B	1.000000	0.07966	U	0.063246	0.973922	0.42745	D	2.105	0.58435	M	0.4	0.58029	T	-1.81	0.49684	N	0.356	0.43706	-1.0333	0.19395	T	0.052	0.22114	T	10	0.0052702427	0.00115	T	.	.	.	0.066	0.19193	.	.	0.54963036629	0.54620	0.3162248289933597	0.31535	0.76600582791	0.64516	0.485783040524	0.36855	T	0.129644	0.45804	T	-0.432269	0.01436	T	-0.393845	0.34102	T	0.0137080974838715	0.00256	T	0.546745	0.21412	T	0.023863325	0.01163	0.032395322	0.01968	0.021031514	0.00685	0.039202422	0.03959	-4.811	0.34720	T	.	.	0.079	0.13174	B	.;.	.;.	2.565280	0.33231	19.28	0.98493446180827937	0.42120	0.45933	0.27648	N	AEFDBHCI	0.101165	0.20324	N	-0.62552999127538	0.18179	0.941786	-0.62145099700017	0.18943	1.014175	0.999985827701064	0.51787	0.733237	0.96898	0	0.547309	0.14657	0	0.600757	0.32118	0	0.635551	0.53088	0	.	.	4.61	2.49	0.29274	2.030000	0.40728	2.540000	0.33211	-0.182000	0.10109	0.345000	0.25717	0.037000	0.21475	0.020000	0.11549	0.0:0.7815:0.0:0.2185	6.309	0.20362	661	0.61838	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005066	0.010101	0.000000	0.005848	0.000000	0.008772	0.006250	0.007576	0.02632	1302.33	36	chr19	49211240	.	C	T	1302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=758;ExcessHet=0;FS=3.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=3.13;SOR=0.462	GT:AD:DP:GQ:PL	0/1:71,51:122:99:1316,0,1867	18	0	1	0
chr19	53824176	53824176	G	C	UTR5	NLRP12	NM_001277129:c.-2C>G;NM_144687:c.-2C>G;NM_001277126:c.-2C>G	.	.	Familial cold autoinflammatory syndrome 2, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	YES	1686852	not_provided|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0004	0	8.649e-05	0	0	7.52e-05	0.0011	0.0024	0.000304	47	154602	rs142898715	0.0002	0.0002	8.169e-05	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0	0	0	0	0.0017	2.068e-05	0.0003	0.0025	0.0001	0.0001	3.855e-05	0.0002	0.0023	7.574e-05	6.279e-05	0.0013	0.0010	0	0	0	0	0.0002	0	0	7.352e-05	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	604.33	34	chr19	53824176	.	G	C	604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=766;ExcessHet=0;FS=2.528;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.149;SOR=1.204	GT:AD:DP:GQ:PL	0/1:27,26:53:99:618,0,685	18	0	1	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:PS125850,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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1415.67	4	chr20	44429378	.	T	C	1415.67	.	AC=15;AF=0.417;AN=36;BaseQRankSum=1.38;DP=101;ExcessHet=0.0261;FS=13.744;InbreedingCoeff=0.3158;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=26.71;ReadPosRankSum=0.18;SOR=3.109	GT:AD:DP:GQ:PL	1/1:0,5:5:15:175,15,0	8	5	5	1
chr20	46128304	46128304	-	TT	intronic	CD40	.	.	.	Immunodeficiency with hyper-IgM, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	350041	not_provided|Hyperimmunoglobulin_M_syndrome	MedGen:C3661900|MONDO:MONDO:0003947,MedGen:C0272236,OMIM:PS308230	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0274	0.0120	0.0110	0.0156	0.0074	0.0160	0.0183	0.0908	0.0033426	87	26028	rs749590513	0.1204	0.1524	0.1209	0.1199	0.1416	0.1199	0.1197	0.1381	0.1367	0.0660	0.0865	0.1065	0.1416	0.0741	0.0672	0.1250	0.1213	0.1206	0.2292	0.2698	0.2372	0.2199	0.3799	0.2267	0.2257	0.3626	0.3556	0.1408	0.2706	0.2220	0.2808	0.3799	0.1099	0.1340	0.2704	0.2297	0.2347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	2317.47	7	chr20	46128304	.	C	CTT	2317.47	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0;DP=1019;ExcessHet=8.9063;FS=1.424;InbreedingCoeff=-0.4073;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=0.66;SOR=0.612	GT:AD:DP:GQ:PL	0/1:5,8:18:11:204,11,97	14	1	4	0
chr22	18918346	18918346	G	A	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon11:c.C1073T:p.T358M,LOC102724788:NM_001368249:exon11:c.C1397T:p.T466M,LOC102724788:NM_001368250:exon11:c.C1073T:p.T358M,PRODH:NM_016335:exon11:c.C1397T:p.T466M	.	0	1498	23	1	0	25	0.00827541	.	.	YES	19052	Proline_dehydrogenase_deficiency|Schizophrenia_4|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.0026	.	0.0057	0.0030	0.0035	0.0201	0.0026	0.0032	0.0055	0.0122	0.0050646	783	154602	rs2870984	0.0048	0.0037	0.0047	0.0049	0.0173	0.0046	0.0045	0.0160	0.0154	0.0023	0.0038	0.0106	0.0173	0.0007	0.0079	0.0020	0.0052	0.0058	0.0037	0.0045	0.0035	0.0040	0.0143	0.0031	0.0029	0.0080	0.0062	0.0036	0	0.0038	0.0133	0.0109	0.0014	0.0102	0.0019	0.0026	0.0143	0.01	0.56456	D	0.017	0.60337	D	0.853	0.47048	P	0.352	0.42883	B	0.000032	0.55875	D	0.157576	0.967669	0.38609	A	.	.	.	1.51	0.30937	T	-3.45	0.68764	D	0.449	0.49783	-0.7207	0.59429	T	0.116	0.40942	T	10	0.011515439	0.00251	T	.	.	.	0.161	0.41658	.	.	0.0401082797425	0.02173	0.6173264318784245	0.61664	0.385115291346	0.39804	0.508698225021	0.40040	T	0.353269	0.72058	T	-0.401173	0.02275	T	-0.334754	0.40938	T	0.0778350368241577	0.09707	T	0.952705	0.81989	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32874	B	.;.;.;.	.;.;.;.	4.926528	0.81191	27.5	0.99892332221749813	0.96589	0.89442	0.49909	D	AEFDBI	0.758511	0.69713	D	0.467202557692036	0.65185	4.790913	0.42067817372036	0.62853	4.50817	0.926051994528804	0.26837	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.21	3.1	0.34780	4.616000	0.60900	6.448000	0.55667	0.303000	0.18983	1.000000	0.71638	1.000000	0.68203	0.759000	0.36109	0.0:0.0:0.8108:0.1892	10.854	0.45998	923	0.18507	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012639	0.005051	0.012228	0.005882	0.050000	0.034483	0.015528	0.003817	0.05263	1548.83	33	chr22	18918346	.	G	A	1548.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.49;DP=864;ExcessHet=0.119;FS=5.511;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.89;MQRankSum=-4.343;QD=8.56;ReadPosRankSum=0.943;SOR=1.1	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1324,0,1280	17	0	2	0
chr22	37723371	37723371	C	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C815A:p.T272K	Deafness, autosomal recessive 28, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	.	165838	Autosomal_recessive_nonsyndromic_hearing_loss_28|not_provided	MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.00464484305664	0.0012	0.000798722	0.0013	0.0002	0.0004	0	0	0.0022	0	0.0001	0.0013648	211	154602	rs140901235	0.0019	0.0019	0.0019	0.0018	0.0028	0.0018	0.0018	0.0021	0.0021	0.0004	0.0006	0.0043	2.519e-05	9.361e-05	0.0028	0.0022	0.0018	0.0005	0.0012	0.0012	0.0013	0.0011	0.0021	0.0011	0.0010	0.0019	0.0018	0.0003	0	0.0003	0.0032	0	0	0	0.0021	0.0009	0.0008	0.128	0.26965	T	0.018	0.59732	D	0.414	0.35185	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.08	0.20255	T	-0.89	0.24026	N	0.214	0.23884	-1.0299	0.20487	T	0.026	0.11264	T	9	0.0061932504	0.00139	T	0.004645	0.11503	T	0.029	0.06676	.	.	0.339555952218	0.33569	0.07009774652719987	0.06946	0.167212088747	0.18855	0.312932819128	0.12350	T	0.032974	0.22716	T	-0.550518	0.00290	T	-0.568484	0.15589	T	0.00587595227725716	0.00064	T	0.335566	0.07155	T	0.07406218	0.16593	0.07123673	0.15231	0.07406218	0.16593	0.07123673	0.15231	-4.571	0.31805	T	.	.	0.172	0.37783	B	.;.	.;.	0.390479	0.07619	4.284	0.88518785186319515	0.18040	0.17903	0.20036	N	AEFDBI	0.039664	0.05794	N	-0.838717356852208	0.12329	0.6002984	-0.900446420493625	0.12083	0.6195228	0.658293134865331	0.22242	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.586402	0.36253	0	.	.	3.24	2.22	0.27116	1.699000	0.37423	0.585000	0.19752	0.598000	0.34611	0.002000	0.15269	0.160000	0.23254	0.002000	0.04165	0.0:0.8818:0.0:0.1182	8.730	0.33652	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004532	0.000000	0.006793	0.002924	0.000000	0.017241	0.006098	0.000000	0.02632	2737.33	136	chr22	37723371	.	C	A	2737.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.35;DP=2155;ExcessHet=0;FS=4.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.063;SOR=0.994	GT:AD:DP:GQ:PL	0/1:120,100:220:99:2751,0,2990	18	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	.	.	.	.	.	.	.	.	0.339	.	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	Benign	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.264854	0.257576	0.247283	0.321637	0.300000	0.258621	0.259146	0.257576	0.1579	13216.4	43	chr22	43928847	.	C	G	13216.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.19;DP=1213;ExcessHet=0.1504;FS=3.228;InbreedingCoeff=0.2083;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=22.06;ReadPosRankSum=1.25;SOR=0.973	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,107:107:99:1|1:43928847_C_G:4786,322,0:43928847	14	1	4	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	.	.	.	.	.	.	.	.	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.568983	0.565657	0.542120	0.570175	0.550000	0.517241	0.573171	0.662879	0.5526	42702.2	207	chr22	43946236	.	A	G	42702.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-1.131;DP=2664;ExcessHet=3.6106;FS=0;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=17.34;ReadPosRankSum=-0.233;SOR=0.682	GT:AD:DP:GQ:PL	1/1:0,139:139:99:4097,416,0	3	5	11	0
chrX	67546320	67546320	C	T	exonic	AR	.	nonsynonymous SNV	AR:NM_000044:exon1:c.C1174T:p.P392S,AR:NM_001348061:exon1:c.C1174T:p.P392S,AR:NM_001348063:exon1:c.C1174T:p.P392S,AR:NM_001348064:exon1:c.C1174T:p.P392S	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	5	1467	34	16	0	66	0.022	.	.	YES	213671	AR-related_disorder|not_specified|Androgen_resistance_syndrome|Kennedy_disease|Hypospadias_1,_X-linked|not_provided|Partial_androgen_insensitivity_syndrome	.|MedGen:CN169374|MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|MONDO:MONDO:0010384,MedGen:C2678098,OMIM:300633,Orphanet:440|MedGen:C3661900|MONDO:MONDO:0010720,MedGen:C0268301,OMIM:312300,Orphanet:90797	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.766	.	.	0.00741722	0.0080	0.0004	0.0017	0.0004	0	0.0041	0.0128	0.0318	0.0042561	658	154602	rs201934623	0.0033	0.0034	0.0029	0.0041	0.0248	0.0032	0.0032	0.0237	0.0232	0.0002	0.0016	0.0023	3.388e-05	0.0003	0.0096	0.0024	0.0034	0.0248	0.0023	0.0024	0.0020	0.0029	0.0278	0.0021	0.0020	0.0227	0.0209	0.0003	0	0.0029	0.0026	0.0003	0.0002	0.0092	0.0024	0.0046	0.0278	0.023	0.48186	D	0.11	0.40267	T	.	.	.	.	.	.	0.003281	0.35154	N	0.178051	0.894798	0.36033	D	.	.	.	-3.89	0.95984	D	-2.2	0.58085	N	0.071	0.27673	0.648	0.92516	D	0.829	0.94260	D	10	0.0062516034	0.00141	T	.	.	.	0.766	0.92087	.	.	0.9820403104	0.98184	0.6266393693549259	0.62596	0.487470984321	0.47571	0.760729134083	0.76037	T	0.028737	0.24619	T	-0.00920381	0.50376	T	0.232927	0.84812	D	0.017087029842915	0.00455	T	0.876112	0.58915	D	0.09093155	0.21293	0.17065041	0.39189	0.104712844	0.24756	0.14456044	0.34317	-3.087	0.15286	T	0.13172630257173745	0.13980	0.167	0.40065	B	.;.;.;.;.;.	.;.;.;.;.;.	1.920947	0.24395	16.38	0.99829277438465058	0.91112	0.73706	0.36052	D	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999991502785384	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.06	3.3	0.36912	1.641000	0.36812	2.143000	0.30857	0.585000	0.30472	0.999000	0.42656	1.000000	0.68203	0.901000	0.43729	0.0:0.8107:0.0:0.1893	8.722	0.33611	563	0.71062	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.006267	0.000000	0.003711	0.007937	0.000000	0.000000	0.009050	0.015789	0.05263	1465.81	65	chrX	67546320	.	C	T	1465.81	.	AC=2;AF=0.053;AN=38;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.87;SOR=1.085	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1493,138,0	18	1	0	0
chrX	101398432	101398432	C	A	exonic	GLA	.	nonsynonymous SNV	GLA:NM_000169:exon6:c.G937T:p.D313Y	Fabry disease, X-linked;Fabry disease, cardiac variant, X-linked	0	1515	3	4	0	11	0.00361723	.	.	YES	25777	Cardiomyopathy|Cardiovascular_phenotype|not_specified|not_provided|Fabry_disease|Hypertrophic_cardiomyopathy|Sudden_unexplained_death	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001071,MONDO:MONDO:0010526,MedGen:C0002986,OMIM:301500,Orphanet:324|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:C0520806	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.614	0.895103895607	0.0029	0.00211921	0.0031	0.0011	0.0017	0	0.0013	0.0044	0.0063	0.0029	0.00315	487	154602	rs28935490	0.0038	0.0038	0.0038	0.0039	0.0044	0.0037	0.0037	0.0042	0.0042	0.0005	0.0020	0.0062	0	0.0008	0.0044	0.0043	0.0033	0.0033	0.0031	0.0032	0.0032	0.0031	0.0053	0.0029	0.0028	0.0048	0.0046	0.0007	0	0.0015	0.0064	0	0.0005	0	0.0053	0.0040	0.0023	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.89	0.63157	P	0.001400	0.39175	N	0.330516	0.755886	0.33982	D	2.485	0.72352	M	-8.15	0.99928	D	-3.18	0.64478	D	0.242	0.27316	1.097	0.99542	D	0.993	0.99826	D	9	0.021395475	0.00511	T	0.895104	0.99207	D	0.614	0.84932	.	.	0.99497889687	0.99492	0.9856763339236793	0.98560	1.90210659146	0.92831	0.335618317127	0.15782	T	0.97888	0.99815	D	-0.114029	0.34105	T	0.0650709	0.74582	D	0.0252911595714227	0.01311	T	0.879712	0.59601	D	0.8621148	0.88248	0.7106251	0.82930	0.91477954	0.92746	0.7168815	0.83289	-3.942	0.22933	T	0.3716853201508746	0.46712	0.150	0.33273	B	.;.	.;.	1.866822	0.23715	16.12	0.98417197864539607	0.41244	0.77115	0.37881	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.99999921453141	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.79	-5.05	0.02733	0.136000	0.15794	-0.813000	0.07327	-0.214000	0.08267	0.979000	0.35152	0.000000	0.08366	0.963000	0.52385	0.0:0.2038:0.0967:0.6995	10.225	0.42399	125	0.94984	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.001855	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	1848.81	38	chrX	101398432	.	C	A	1848.81	.	AC=2;AF=0.053;AN=38;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.44;SOR=0.728	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1876,171,0	18	1	0	0