Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES947	WT	HH	HZ	NC
chr1	17005564	17005564	C	T	intronic	ATP13A2	.	.	.	Kufor-Rakeb syndrome, Autosomal recessive;Spastic paraplegia 78, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	0.0001	0.01	206730	not_provided|Kufor-Rakeb_syndrome|Autosomal_recessive_spastic_paraplegia_type_78|not_specified	MedGen:C3661900|MONDO:MONDO:0011706,MedGen:C1847640,OMIM:606693,Orphanet:306674,Orphanet:314632|MONDO:MONDO:0014975,MedGen:C5567893,OMIM:617225,Orphanet:513436|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0011	0.0002	8.685e-05	0	0.0014	0.0018	0	6.071e-05	0.0009961	154	154602	rs200587951	0.0010	0.0010	0.0010	0.0010	0.0011	0.0009	0.0009	0.0011	0.0010	0.0003	0.0002	0.0003	0	0.0018	0.0002	0.0011	0.0008	8.116e-05	0.0007	0.0007	0.0007	0.0007	0.0011	0.0006	0.0006	0.0009	0.0009	0.0002	0	0.0003	0	0	0.0013	0	0.0011	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2064.98	34	chr1	17005564	.	C	T	2064.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=854;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=0.534;SOR=0.786	GT:AD:DP:GQ:PL	0/1:69,79:148:99:2079,0,1678	20	0	1	0
chr1	37708312	37708314	TTC	-	intronic	CDCA8	.	.	.	.	.	430	656	353	83	0	519	0.283452	.	.	1310279	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2158	0.364217	0.2783	0.2577	0.4416	0.7111	0.2264	0.1916	0.2695	0.3211	0.0001537	4	26028	rs145033890	0.2126	0.2132	0.2108	0.2144	0.6712	0.2120	0.2117	0.6645	0.6617	0.2510	0.4088	0.2738	0.6712	0.2205	0.2368	0.1761	0.2370	0.3125	0.2412	0.2420	0.2349	0.2479	0.6862	0.2391	0.2383	0.6673	0.6596	0.2534	0.1154	0.3139	0.2784	0.6862	0.2248	0.2021	0.1800	0.2481	0.3272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	34786.27	34	chr1	37708311	.	TTTC	T	34786.27	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-1.170e-01;DP=2206;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=19.29;ReadPosRankSum=0.285;SOR=0.689	GT:AD:DP:GQ:PL	0/1:95,112:207:99:4362,0,3622	10	0	11	0
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q,	Hypercholesterolemia, familial, 3	.	1	0	1	1520	0	3041	1	.	.	249989	Cardiovascular_phenotype|Familial_hypercholesterolemia|not_provided|Hypobetalipoproteinemia|Hypercholesterolemia,_familial,_1|not_specified|Hypercholesterolemia,_autosomal_dominant,_3	MedGen:CN230736|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	1.0	116023.81	140	chr1	55057360	.	A	G	116023.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.17;DP=3833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=31.18;ReadPosRankSum=0.146;SOR=0.726	GT:AD:DP:GQ:PL	1/1:0,186:186:99:5707,558,0	0	21	0	0
chr1	89054647	89054652	AAAAAC	-	intronic	GBP1	.	.	.	.	.	630	387	266	239	0	744	0.490119	.	.	1310281	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4335	0.384984	0.4653	0.2752	0.3198	0.3797	0.6032	0.5117	0.4919	0.4927	0.0001921	5	26028	rs66614512	0.5009	0.4988	0.4991	0.5027	0.5162	0.4999	0.4995	0.5150	0.5146	0.2892	0.3353	0.4420	0.3415	0.6034	0.4709	0.5162	0.4810	0.5115	0.4382	0.4403	0.4351	0.4415	0.5215	0.4354	0.4343	0.5169	0.5151	0.2908	0.4658	0.3465	0.4346	0.3728	0.6123	0.5069	0.5215	0.4378	0.5102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	10989.78	44	chr1	89054646	.	GAAAAAC	G	10989.78	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.571;DP=815;ExcessHet=4.5793;FS=0.576;InbreedingCoeff=-0.2115;MLEAC=16;MLEAF=0.381;MQ=59.79;MQRankSum=0.00;QD=20.24;ReadPosRankSum=0.349;SOR=0.627	GT:AD:DP:GQ:PL	0/1:15,22:37:99:874,0,556	7	2	12	0
chr1	100206310	100206310	-	A	intronic	DBT	.	.	.	Maple syrup urine disease, type II, Autosomal recessive	.	0	104	85	27	10	149	0.400576	.	.	190799	not_provided|Maple_syrup_urine_disease	MedGen:C3661900|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226	0.0424	0.0181	0.0374	0.0145	0.0191	0.0287	0.0255	0.021261	3287	154602	rs566272048	0.0260	0.0567	0.0266	0.0253	0.0502	0.0257	0.0256	0.0479	0.0470	0.0502	0.0193	0.0291	0.0282	0.0179	0.0337	0.0260	0.0280	0.0217	0.0008	0.0011	0.0008	0.0008	0.0007	0.0007	0.0006	0.0005	0.0005	0.0006	0	0.0007	0.0047	0.0002	0.0010	0	0.0007	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	9643.85	33	chr1	100206310	.	T	A,TA	9643.85	.	AC=11,5;AF=0.262,0.119;AN=42;BaseQRankSum=-5.020e-01;DP=1443;ExcessHet=4.5793;FS=1.104;InbreedingCoeff=-0.1912;MLEAC=11,4;MLEAF=0.262,0.095;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-5.090e-01;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:55,0,8:63:4:.:.:4,169,1425,0,1256,1233	7	1	8	0
chr1	103026268	103026268	T	C	exonic	COL11A1	.	nonsynonymous SNV	COL11A1:NM_001854:exon6:c.A845G:p.E282G	Fibrochondrogenesis 1, Autosomal recessive;Marshall syndrome, Autosomal dominant;Stickler syndrome, type II, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	275734	Inborn_genetic_diseases|Stickler_syndrome_type_2|Fibrochondrogenesis_1|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011493,MedGen:C1858084,OMIM:604841,Orphanet:828,Orphanet:90654|MONDO:MONDO:0009226,MedGen:C3278138,OMIM:228520,Orphanet:2021|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.37	T	0.319	B	0.055	B	.	.	1.000	D	2.135	M	-2.42	D	-0.116	T	0.485	T	0.282	2.820	15.39	5.39	2.046	2.917	15.409	0.304	0.0616479675708	0.0004	0.000199681	0.0003	0	0	0	0	0.0004	0.0011	6.056e-05	0.0002135	33	154602	rs199539580	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	9.792e-05	7.838e-05	2.987e-05	0	0.0041	0	0	0.0002	4.677e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.712e-05	4.766e-05	3.339e-05	4.81e-05	0	0	0.0035	0	0	0	0.0001	0.0005	0.0002	0.249	0.17183	T	0.437	0.23298	T	0.319	0.32965	B	0.055	0.25995	B	.	.	.	.	0.99986	0.81001	D	1.735	0.44892	L	-2.42	0.88767	D	-0.44	0.14588	N	0.216	0.30461	-0.1157	0.79735	T	0.485	0.80390	T	9	0.010509074	0.00233	T	0.061648	0.68398	D	0.304	0.62510	.	.	0.388425449554	0.38455	0.3259171171562219	0.32504	0.16140204247	0.18220	0.362784087658	0.19791	T	0.143889	0.48023	T	-0.135358	0.30633	T	-0.206507	0.54029	T	0.0220699496694212	0.00917	T	0.666933	0.28956	T	0.13285843	0.30922	0.15250972	0.35878	0.10596972	0.25056	0.17495535	0.39926	-5.534	0.44373	T	.	.	0.085	0.12797	B	.;.;.;.;.;.	.;.;.;.;.;.	2.779384	0.36502	20.3	0.9952905667556089	0.69777	0.88150	0.47952	D	AEFDBI	0.433559	0.49497	N	0.0815132748306517	0.45600	2.81391	0.205359769616328	0.50146	3.209598	0.998093827706674	0.36419	0.643511	0.44296	0	0.573888	0.26702	0	0.688494	0.62686	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	2.912000	0.48479	3.484000	0.38668	0.654000	0.53741	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.409	0.74625	824	0.40336	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2023.98	38	chr1	103026268	.	T	C	2023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.880;DP=890;ExcessHet=0.0000;FS=0.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.084;SOR=0.639	GT:AD:DP:GQ:PL	0/1:95,82:177:99:2038,0,2255	20	0	1	0
chr1	156881590	156881590	G	A	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon16:c.G2321A:p.R774Q	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	YES	0	1487	35	0	0	35	0.0116318	.	.	237215	NTRK1-related_disorder|Hereditary_insensitivity_to_pain_with_anhidrosis|not_specified|not_provided	.|MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.62	T	0.873	P	0.239	B	0.001	D	1.000	N	0.56	N	-1.6	D	-0.934	T	0.138	T	0.488	0.659	7.532	4.1	1.341	0.822	8.581	0.339	.	0.0036	0.00379393	0.0064	0.0015	0.0035	0	0.0019	0.0072	0.0050	0.0126	0.0048512	750	154602	rs35669708	0.0058	0.0058	0.0055	0.0061	0.0117	0.0057	0.0057	0.0111	0.0109	0.0007	0.0027	0.0006	7.571e-05	0.0017	0.0070	0.0062	0.0049	0.0117	0.0043	0.0043	0.0043	0.0044	0.0114	0.0041	0.0039	0.0090	0.0081	0.0010	0	0.0075	0.0009	0	0.0013	0.0136	0.0061	0.0057	0.0114	0.231	0.18308	T	0.445	0.13140	T	0.005	0.47975	B	0.009	0.38566	B	0.000949	0.40932	D	0.109267	1	0.08975	N	0.595	0.15482	N	-1.6	0.82165	D	-1.25	0.31576	N	0.282	0.35408	-0.9340	0.43545	T	0.138	0.45470	T	10	0.012337536	0.00265	T	.	.	.	0.339	0.66106	.	.	0.793816764983	0.79190	0.6476328844921709	0.64698	0.295731434207	0.31975	0.395707249641	0.24471	T	0.56893	0.85694	D	-0.335654	0.05694	T	-0.246959	0.50116	T	0.00731582278162374	0.00084	T	0.819918	0.48580	T	0.24014701	0.46915	0.10897891	0.26259	0.26156637	0.49215	0.09393142	0.22210	-6.265	0.48904	T	0.13459309679898868	0.14554	0.065	0.02313	B	.;.;.;.	.;.;.;.	2.380185	0.30549	18.47	0.94565689527094787	0.25095	0.20513	0.21069	N	AEFDBI	0.241183	0.36284	N	-0.746801634666891	0.14720	0.7356819	-0.73046276975402	0.16204	0.8560722	0.98761279161428	0.31305	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.01	4.1	0.47196	0.472000	0.21827	1.856000	0.29290	0.676000	0.76740	0.000000	0.06391	0.014000	0.20376	0.137000	0.19835	0.1746:0.0:0.8254:0.0	8.581	0.32790	527	0.73864	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1473.98	33	chr1	156881590	.	G	A	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=823;ExcessHet=0.0000;FS=3.160;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-9.410e-01;SOR=0.465	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1488,0,1556	20	0	1	0
chr1	158668076	158668078	AAA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276726	Pyropoikilocytosis,_hereditary|Elliptocytosis|not_provided|Spherocytosis,_Recessive	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480|MedGen:CN517202|MedGen:CN239472	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261382	0.2751	0.1818	0.3209	0.3391	0.3421	0.2907	0.2962	0.1744	0.0001537	4	26028	rs140998442	0.2835	0.2762	0.2874	0.2795	0.3211	0.2827	0.2824	0.3164	0.3145	0.1824	0.3211	0.3004	0.3201	0.3428	0.3048	0.2886	0.2864	0.1756	0.3122	0.3051	0.3058	0.3190	0.4553	0.3097	0.3087	0.4394	0.4329	0.1942	0.4510	0.3960	0.3610	0.4553	0.4283	0.3444	0.3419	0.3398	0.2111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	15062.3	68	chr1	158668075	.	GAAA	GAA,GAAAA,G,GA	15062.3	.	AC=14,3,7,2;AF=0.333,0.071,0.167,0.048;AN=42;BaseQRankSum=-2.100e-02;DP=1517;ExcessHet=20.9642;FS=1.232;InbreedingCoeff=-0.6153;MLEAC=14,3,7,2;MLEAF=0.333,0.071,0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.409;SOR=0.800	GT:AD:DP:GQ:PL	0/1:27,20,0,0,3:52:99:295,0,495,404,629,1341,404,629,1341,1341,325,569,1268,1268,1318	0	0	10	0
chr1	160041441	160041441	T	C	exonic	KCNJ10	.	synonymous SNV	KCNJ10:NM_002241:exon2:c.A1092G:p.Q364Q,	Enlarged vestibular aqueduct, digenic, Autosomal recessive;SESAME syndrome, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	141684	Inborn_genetic_diseases|not_provided|EAST_syndrome|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_4	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0013005,MedGen:C2748572,OMIM:612780,Orphanet:199343|MedGen:CN169374|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0047	0.00159744	0.0044	0.0009	0.0009	0	0.0008	0.0067	0.0023	0.0036	0.0043337	670	154602	rs145588542	0.0059	0.0060	0.0061	0.0058	0.0072	0.0058	0.0058	0.0071	0.0070	0.0007	0.0014	0.0001	0	0.0012	0.0021	0.0072	0.0041	0.0031	0.0033	0.0033	0.0033	0.0033	0.0060	0.0030	0.0029	0.0055	0.0054	0.0010	0	0.0021	0	0	0.0005	0	0.0060	0.0019	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	2517.98	33	chr1	160041441	.	T	C	2517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.370e-01;DP=909;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=1.24;SOR=0.670	GT:AD:DP:GQ:PL	0/1:98,99:197:99:2532,0,2472	20	0	1	0
chr1	161362413	161362413	A	T	exonic	SDHC	.	nonsynonymous SNV	SDHC:NM_001035513:exon4:c.A331T:p.M111L	Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 3, Autosomal dominant	.	0	1477	45	0	0	45	0.015005	.	.	181603	Malignant_tumor_of_breast|not_specified|not_provided|Gastrointestinal_stromal_tumor|Paragangliomas_3|Ovarian_cancer|Hereditary_pheochromocytoma-paraganglioma|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MONDO:MONDO:0011544,MedGen:C1854336,OMIM:605373,Orphanet:29072|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.0	B	0.734	N	.	.	.	.	-3.43	D	-0.432	T	0.619	D	0.113	-0.590	1.356	-4.71	-0.842	-0.304	9.476	0.250	0.0570150424314	.	0.000599042	0.0006	0	0.0003	0	0	0.0002	0.0012	0.0032	2.59e-05	4	154602	rs200375156	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	2.988e-05	0.0002	0	0	0	0.0035	7.556e-05	0.0006	0.0040	0.0002	0.0002	7.774e-05	0.0003	0.0044	0.0001	0.0001	0.0029	0.0025	0	0	0.0001	0	0	0	0	7.371e-05	0	0.0044	0.163	0.23450	T	0.513	0.10714	T	0.0	0.02946	B	0.0	0.01387	B	0.733946	0.09831	N	0.880348	1	0.08975	N	.	.	.	-3.43	0.94388	D	0.25	0.04456	N	0.07	0.25006	-0.4316	0.71014	T	0.619	0.86580	D	8	0.013089299	0.00279	T	0.057015	0.66813	D	0.250	0.55888	0.476	0.55342	0.583677480531	0.58040	0.3585962639238585	0.35773	1.79880672876	0.91610	0.245953053236	0.03353	T	0.091916	0.38896	T	-0.362043	0.04016	T	-0.295247	0.45225	T	0.0138114803380374	0.00261	T	0.039596	0.00274	T	0.05469047	0.10526	0.07093414	0.15130	0.041325785	0.06066	0.04859368	0.07250	1.203	0.00232	T	0.03272251798696227	0.00128	0.081	0.10256	B	.;.;.	.;.;.	-0.585972	0.01610	0.110	0.57946038623444585	0.05882	0.04530	0.10162	N	AEFGBI	0.252733	0.37236	N	-1.45194162059434	0.02201	0.09694486	-1.51548168205956	0.02225	0.1019991	0.110365338529712	0.16631	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.27	-4.71	0.03042	-0.094000	0.11060	-0.665000	0.07962	-1.618000	0.00872	0.001000	0.13787	0.000000	0.08366	0.278000	0.23967	0.1931:0.3704:0.4365:0.0	9.476	0.38037	746	0.52331	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.04762	2001.11	43	chr1	161362413	.	A	T	2001.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.20;DP=966;ExcessHet=0.1072;FS=1.716;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=48.48;MQRankSum=1.35;QD=9.01;ReadPosRankSum=0.598;SOR=0.824	GT:AD:DP:GQ:PL	0/1:69,44:113:99:1158,0,1716	19	0	2	0
chr1	169529737	169529737	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.A5290G:p.M1764V,	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	.	1	683	630	208	0	1046	0.433665	.	.	249501	Congenital_factor_V_deficiency|not_provided|not_specified|Thrombophilia_due_to_activated_protein_C_resistance	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.800	N	1.000	P	-0.345	N	-5.02	D	-0.434	T	0.433	T	0.037	-1.434	0.020	-2.86	-0.913	-2.414	3.252	0.230	.	0.2894	0.308706	0.3351	0.1905	0.5327	0.2606	0.2965	0.3211	0.3469	0.3980	0.331005	51174	154602	rs6030	0.3320	0.3320	0.3303	0.3337	0.5036	0.3312	0.3309	0.4981	0.4958	0.1908	0.5036	0.2433	0.2974	0.2961	0.3432	0.3294	0.3217	0.4015	0.2994	0.2996	0.2954	0.3036	0.4414	0.2971	0.2962	0.4325	0.4289	0.1962	0.1919	0.4414	0.2414	0.2702	0.2903	0.3129	0.3306	0.3275	0.4006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.799742	0.09333	N	0.908379	1	0.08975	P	-1.195	0.00846	N	-5.02	0.98562	D	0.77	0.01949	N	0.006	0.00044	-0.4336	0.70946	T	0.433	0.77400	T	9	0.00013938546	0.00010	T	.	.	.	0.230	0.53062	.	.	.	.	0.5774194888175482	0.57670	0.0874476088007	0.09862	0.202470511198	0.00532	T	0.012008	0.10625	T	-0.558879	0.00258	T	-0.431747	0.29737	T	0.00389668243981471	0.00041	T	0.0319468	0.00204	T	0.10963965	0.25921	0.15528889	0.36408	0.11500659	0.27143	0.10465255	0.25139	-1.936	0.02949	T	0.0630923633968402	0.01915	0.051	0.00195	B	.;.	.;.	-1.215408	0.00515	0.012	0.69920481567361925	0.09127	0.03239	0.08258	N	AEFGBCIJ	0.145810	0.26911	N	-1.46881193792389	0.02073	0.09117123	-1.39284912778787	0.03328	0.1549985	0.999997398089242	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.172119	0.04147	3	0.564101	0.26826	0	.	.	5.32	-2.86	0.05376	-2.274000	0.01245	-8.462000	0.00965	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0923:0.1961:0.2724:0.4392	3.252	0.06416	772	0.48957	.;.	ATP1B1	Testis	.	.	rs6030	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.2857	19684.36	33	chr1	169529737	.	T	C	19684.36	.	AC=12;AF=0.286;AN=42;BaseQRankSum=0.592;DP=1565;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=18.13;ReadPosRankSum=0.437;SOR=0.646	GT:AD:DP:GQ:PL	0/1:63,53:116:99:1216,0,1593	12	3	6	0
chr1	169542517	169542517	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.A2573G:p.K858R,	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	.	0	794	580	148	0	876	0.355519	.	.	249509	Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|not_provided|not_specified	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.0	B	0.635	N	1.000	P	-0.805	N	2.17	T	-0.910	T	0.005	T	0.022	-0.986	0.281	-1.7	-0.097	-0.454	5.162	0.009	.	0.2436	0.266773	0.2768	0.1782	0.4435	0.2189	0.2153	0.2598	0.2797	0.3462	0.26695	41271	154602	rs4524	0.2731	0.2732	0.2716	0.2747	0.4087	0.2724	0.2721	0.4038	0.4017	0.1804	0.4087	0.1760	0.2265	0.2171	0.2765	0.2718	0.2651	0.3467	0.2462	0.2463	0.2443	0.2481	0.3449	0.2441	0.2432	0.3341	0.3309	0.1831	0.1908	0.3418	0.1685	0.2342	0.2115	0.2381	0.2667	0.2614	0.3449	0.855	0.02705	T	0.847	0.03538	T	0.0	0.02946	B	0.0	0.01387	B	0.635169	0.10649	N	0.830320	1	0.08975	P	-1.355	0.00654	N	2.17	0.19020	T	0.21	0.04776	N	0.026	0.00527	-0.9096	0.46904	T	0.005	0.01615	T	9	0.00049877167	0.00011	T	.	.	.	0.009	0.00846	.	.	.	.	0.1337133431932104	0.13295	0.07127904727	0.07981	0.188595145941	0.00201	T	0.013326	0.11547	T	-0.869542	0.00001	T	-0.877993	0.00671	T	0.000714397847103574	0.00006	T	0.386661	0.09517	T	0.022049049	0.00842	0.030590214	0.01535	0.01725972	0.00258	0.02791734	0.00982	-3.171	0.12129	T	0.05318867320884815	0.01062	0.073	0.04477	B	.;.	.;.	-0.558016	0.01690	0.122	0.12338566367754079	0.00211	0.00494	0.02336	N	AEFBI	0.057701	0.10769	N	-1.69916646532579	0.00845	0.03654265	-1.64287359967973	0.01413	0.06388659	1.28884559717462E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.34	-1.7	0.07721	-0.613000	0.05705	-0.884000	0.07053	-1.357000	0.01185	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3402:0.1552:0.5046	5.162	0.14392	773	0.48803	.;.	.	.	.	.	rs4524	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.2143	30189.99	37	chr1	169542517	.	T	C	30189.99	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.620e-01;DP=2639;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=15.56;ReadPosRankSum=0.326;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:114,138:252:99:.:.:3548,0,2842	13	1	7	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	YES	467	200	364	491	0	1346	0.770905	1.0000	0.918	249563	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified|not_provided	MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	1.765	11.86	5.26	2.598	4.200	14.730	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	32697.54	93	chr1	179889309	.	G	A	32697.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=0.720;DP=1629;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=21.37;ReadPosRankSum=0.266;SOR=0.619	GT:AD:DP:GQ:PL	1/1:0,65:65:99:1991,195,0	2	11	8	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	YES	207	250	453	612	0	1677	0.770326	.	.	278205	Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Age_related_macular_degeneration_4|Atypical_hemolytic-uremic_syndrome	MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	P	.	.	-0.03	T	-1.007	T	0.000	T	0.041	-2.252	0.004	-9.09	-4.010	-6.715	2.071	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	1	0	0.6429	62931.18	182	chr1	196690107	.	C	T	62931.18	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.049;DP=3170;ExcessHet=3.1640;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=27;MLEAF=0.643;MQ=59.99;MQRankSum=0.00;QD=20.84;ReadPosRankSum=-4.090e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:82,85:167:99:2080,0,2187	2	8	11	0
chr1	212897349	212897349	-	ACAC	UTR3	FLVCR1	NM_014053:c.*2059_*2060insACAC	.	.	Ataxia, posterior column, with retinitis pigmentosa, Autosomal recessive	.	1218	248	11	45	0	101	0.169179	.	.	280300	Posterior_column_ataxia-retinitis_pigmentosa_syndrome	MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033,Orphanet:88628	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255591	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs139242973	0.0139	0.0084	0	0.0167	0.0152	0	0	.	.	0	.	.	.	.	.	0.0152	0	.	0.2052	0.2032	0.2026	0.2080	0.3738	0.2033	0.2025	0.3656	0.3622	0.1629	0.3634	0.3738	0.3073	0.3457	0.1403	0.2345	0.1773	0.2655	0.2648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	964.46	1	chr1	212897349	.	T	TACAC	964.46	.	AC=14;AF=0.389;AN=36;DP=58;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6133;MLEAC=15;MLEAF=0.417;MQ=60.00;QD=27.57;SOR=0.874	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	11	7	0	3
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q,	.	YES	440	2	22	1058	0	2138	0.998133	.	.	1704217	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	0.484	N	1.000	P	-0.345	N	1.98	T	-1.012	T	0.000	T	0.024	1.017	9.155	-4.95	-0.777	-0.899	2.079	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	1.0	76821.81	101	chr1	226735804	.	G	T	76821.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.84;DP=2407;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=33.21;ReadPosRankSum=1.53;SOR=0.318	GT:AD:DP:GQ:PL	1/1:0,129:129:99:4138,387,0	0	21	0	0
chr1	228159235	228159235	G	A	UTR3	GJC2	NM_020435:c.*157G>A	.	.	Leukodystrophy, hypomyelinating, 2, Autosomal recessive;Lymphedema, hereditary, IC, Autosomal dominant;Spastic paraplegia 44, autosomal recessive, Autosomal recessive	.	189	1288	32	13	0	58	0.0220197	.	.	1254937	Hereditary_spastic_paraplegia|not_provided	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0233626	.	.	.	.	.	.	.	.	0.0113259	1751	154602	rs45491398	0.0778	0.0829	0.0798	0.0760	0.0940	0.0773	0.0771	0.0932	0.0929	0.0144	0.0316	0.0658	9.45e-05	0.0784	0.0186	0.0940	0.0622	0.0292	0.0576	0.0576	0.0595	0.0556	0.0906	0.0566	0.0562	0.0887	0.0880	0.0160	0.0625	0.0406	0.0579	0.0008	0.0794	0.0170	0.0906	0.0496	0.0224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	323.43	7	chr1	228159235	.	G	A	323.43	.	AC=2;AF=0.050;AN=40;BaseQRankSum=1.98;DP=159;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0828;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.876;SOR=0.593	GT:AD:DP:GQ:PL	0/1:2,5:7:58:192,0,58	18	0	2	1
chr1	241500603	241500604	GA	-	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	435	459	46	27	555	655	0.0982318	.	.	280521	Hereditary_leiomyomatosis_and_renal_cell_cancer|not_provided|Fumarase_deficiency|Hereditary_cancer-predisposing_syndrome|FH-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:C3661900|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1491361156	0.0408	0.0471	0.0403	0.0412	0.1123	0.0405	0.0404	0.1094	0.1083	0.1101	0.0807	0.0668	0.1123	0.0526	0.0602	0.0329	0.0476	0.0425	0.0220	0.0219	0.0220	0.0219	0.0720	0.0213	0.0210	0.0697	0.0687	0.0720	0.0012	0.0094	0.0024	0.0065	0.0031	0.0074	0.0030	0.0122	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11846.01	26	chr1	241500602	.	TGA	TGAGA,TGAGAGA,T,TGAGAGAGAGA,TGAGAGAGA,TGAGAGAGAGAGAGAGA	11846.01	.	AC=10,12,1,3,6,1;AF=0.250,0.300,0.025,0.075,0.150,0.025;AN=40;BaseQRankSum=0.270;DP=1010;ExcessHet=0.9430;FS=2.185;InbreedingCoeff=-0.1062;MLEAC=10,12,1,3,6,1;MLEAF=0.250,0.300,0.025,0.075,0.150,0.025;MQ=59.96;MQRankSum=0.00;QD=25.59;ReadPosRankSum=0.383;SOR=1.052	GT:AD:DP:GQ:PL	4/5:0,0,0,0,7,3,0:10:52:489,399,368,399,368,368,399,368,368,368,89,88,88,88,52,198,196,196,196,0,161,399,368,368,368,88,196,368	0	0	1	1
chr2	21008720	21008720	G	A	exonic	APOB	.	synonymous SNV	APOB:NM_000384:exon26:c.C8148T:p.I2716I,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	0	1466	54	2	0	58	0.019398	.	.	238609	not_specified|Cardiovascular_phenotype|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_type_B|not_provided|Hypercholesterolemia,_familial,_1	MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0236	0.014377	0.0195	0.0301	0.0105	0.0001	0.0256	0.0230	0.0264	0.0127	0.0184086	2846	154602	rs6413458	0.0188	0.0189	0.0191	0.0186	0.0325	0.0187	0.0186	0.0309	0.0303	0.0325	0.0111	0.0589	7.557e-05	0.0240	0.0151	0.0187	0.0213	0.0114	0.0220	0.0220	0.0221	0.0218	0.0323	0.0213	0.0211	0.0309	0.0303	0.0323	0.0219	0.0124	0.0588	0	0.0226	0.0442	0.0183	0.0189	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	1	1	0.04762	20470.11	37	chr2	21008720	.	G	A	20470.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.07;DP=8898;ExcessHet=0.1072;FS=0.518;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=0.923;SOR=0.724	GT:AD:DP:GQ:PL	0/1:394,372:766:99:9722,0,9712	19	0	2	0
chr2	32154594	32154594	A	G	UTR3	SPAST	NM_001363823:c.*98A>G;NM_001363875:c.*98A>G;NM_014946:c.*98A>G;NM_001377959:c.*222A>G;NM_199436:c.*98A>G	.	.	Spastic paraplegia 4, autosomal dominant, Autosomal dominant	.	145	1306	65	6	0	77	0.0286352	.	.	289207	Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_4|not_provided	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0008438,MedGen:C1866855,OMIM:182601,Orphanet:100985|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0215655	.	.	.	.	.	.	.	.	0.010084	1559	154602	rs56272862	0.0593	0.0580	0.0614	0.0573	0.0766	0.0589	0.0588	0.0702	0.0678	0.0136	0.0333	0.0857	0	0.0609	0.0766	0.0685	0.0581	0.0124	0.0437	0.0438	0.0444	0.0429	0.0632	0.0428	0.0425	0.0616	0.0610	0.0130	0.0515	0.0390	0.0772	0.0002	0.0705	0.0272	0.0632	0.0468	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	330.98	16	chr2	32154594	.	A	G	330.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.406e+00;DP=405;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.39;ReadPosRankSum=-8.900e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/1:8,10:18:99:345,0,284	20	0	1	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I,	Cystinuria, Autosomal recessive, Autosomal dominant	YES	1	171	630	720	0	2070	0.858209	.	.	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.78	T	0.001	B	0.001	B	0.120	N	1.000	P	1.095	L	-4.41	D	-0.903	T	0.000	T	0.046	0.686	7.667	-1.37	0.140	-0.163	2.100	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.8333	74868.88	116	chr2	44320435	.	G	A	74868.88	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-1.187e+00;DP=2972;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=25.99;ReadPosRankSum=0.083;SOR=0.687	GT:AD:DP:GQ:PL	1/1:0,151:151:99:5017,454,0	0	14	7	0
chr2	47798646	47798646	A	C	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon2:c.A273C:p.E91D	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	YES	0	1516	6	0	0	6	0.00197498	.	.	95026	Breast_and/or_ovarian_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Carcinoma_of_colon|Abnormality_of_the_ovary|not_provided|Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome_5|Hereditary_cancer	MedGen:CN221562|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0002032,MedGen:C0699790|Human_Phenotype_Ontology:HP:0000137,MONDO:MONDO:0005558,MedGen:C4021818|MedGen:C3661900|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:C1333600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.884	P	0.268	B	0.704	N	1.000	D	1.52	L	0.16	T	-0.561	T	0.384	T	0.427	1.422	10.69	-0.723	-0.032	-0.302	4.968	0.316	0.0227959788225	0.0008	.	0.0006	0.0003	0.0002	0	0	0.0009	0	0.0007	0.0006015	93	154602	rs41557217	0.0008	0.0008	0.0007	0.0008	0.0012	0.0007	0.0007	0.0010	0.0010	5.974e-05	0.0005	0	0	5.756e-05	0.0007	0.0008	0.0005	0.0012	0.0006	0.0006	0.0006	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0	0.0009	0	0.0002	0	0.0068	0.0009	0.0009	0.0006	0.16	0.23721	T	0.425	0.92824	T	0.003	0.11197	B	0.002	0.06944	B	0.703756	0.10072	N	0.876699	0.998675	0.51612	D	1.59	0.40313	L	-1.92	0.85173	D	-0.87	0.26639	N	0.169	0.17966	-0.5613	0.66354	T	0.384	0.73966	T	10	0.031133354	0.01245	T	0.022796	0.45720	T	0.316	0.63799	0.092	0.01108	0.841943260456	0.84042	0.07321851081520586	0.07258	.	.	0.410471796989	0.26522	T	0.279066	0.65174	T	-0.286055	0.10034	T	-0.234116	0.51373	T	0.00678472511881113	0.00076	T	0.643236	0.29028	T	0.032249473	0.03216	0.04116448	0.04617	0.038520277	0.05146	0.049310256	0.07507	-3.545	0.22662	T	0.09027583960300532	0.05605	0.079	0.09772	B	.;.;.;.	.;.;.;.	0.944175	0.13202	9.701	0.98176351431738729	0.38907	0.73602	0.36002	D	AEFBCI	0.155883	0.28115	N	-0.495809778911639	0.22217	1.184772	-0.496778031112651	0.22242	1.20716	0.985806220003635	0.30952	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.27	-0.723	0.10617	-0.266000	0.08660	-0.416000	0.09315	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.4342:0.0:0.4134:0.1524	4.968	0.13447	903	0.23940	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.04762	5489.11	34	chr2	47798646	.	A	C	5489.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.234e+00;DP=1232;ExcessHet=0.1072;FS=1.725;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.744;SOR=0.572	GT:AD:DP:GQ:PL	0/1:111,122:233:99:2715,0,2877	19	0	2	0
chr2	47806752	47806753	TT	-	intronic	MSH6	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	94983	Breast_and/or_ovarian_cancer|Lynch_syndrome_5|not_specified|not_provided	MedGen:CN221562|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1323	0.1439	0.1002	0.1406	0.1805	0.1444	0.1260	0.0985	0.0002305	6	26028	rs1491083972	0.0558	0.0746	0.0554	0.0562	0.0568	0.0555	0.0553	0.0554	0.0552	0.0568	0.0478	0.0707	0.0549	0.0678	0.0488	0.0558	0.0550	0.0492	0.0039	0.0046	0.0038	0.0039	0.0069	0.0036	0.0035	0.0049	0.0042	0.0027	0	0.0027	0.0024	0.0029	0.0042	0	0.0048	0.0026	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8839.08	81	chr2	47806751	.	CTT	C,CT	8839.08	.	AC=3,20;AF=0.071,0.476;AN=42;BaseQRankSum=-5.280e-01;DP=1860;ExcessHet=36.0830;FS=0.544;InbreedingCoeff=-0.8261;MLEAC=2,20;MLEAF=0.048,0.476;MQ=59.99;MQRankSum=0.00;QD=7.04;ReadPosRankSum=0.160;SOR=0.758	GT:AD:DP:GQ:PL	0/1:17,11,15:52:24:401,0,491,24,77,266	0	0	1	0
chr2	48713934	48713934	A	-	intronic	LHCGR;STON1-GTF2A1L	.	.	.	.	.	8	920	487	107	0	701	0.275876	.	.	45133	not_provided|Gonadotropin-independent_familial_sexual_precocity	MedGen:C3661900|MONDO:MONDO:0008303,MedGen:C0342549,OMIM:176410,Orphanet:3000	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8827.49	69	chr2	48713933	.	CA	C	8827.49	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.440e-01;DP=1030;ExcessHet=0.2785;FS=0.528;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=17.69;ReadPosRankSum=0.469;SOR=0.640	GT:AD:DP:GQ:PL	0/1:50,33:83:99:1072,0,1748	15	1	5	0
chr2	69326244	69326245	AA	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	20	58	78	59	11	207	0.628205	.	.	287070	Congenital_Myasthenic_Syndrome,_Recessive|Congenital_myasthenic_syndrome_12|not_provided	MedGen:CN239337|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0895	0.1623	0.0441	0.2283	0.0324	0.0560	0.0745	0.1540	0.0003842	10	26028	rs201268947	0.0369	0.0687	0.0349	0.0389	0.1957	0.0366	0.0365	0.1919	0.1903	0.1245	0.0257	0.0432	0.1957	0.0199	0.0296	0.0216	0.0478	0.1207	0.0320	0.0320	0.0303	0.0338	0.1935	0.0312	0.0309	0.1832	0.1790	0.0674	0	0.0143	0.0117	0.1935	0.0014	0.0112	0.0030	0.0297	0.1004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	14896.37	76	chr2	69326243	.	GAA	GA,G,GAAA	14896.37	.	AC=23,2,1;AF=0.548,0.048,0.024;AN=42;BaseQRankSum=-8.000e-03;DP=1288;ExcessHet=10.5502;FS=0.000;InbreedingCoeff=-0.3473;MLEAC=22,2,1;MLEAF=0.524,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.00;SOR=0.666	GT:AD:DP:GQ:PL	0/1:15,39,0,0:54:99:873,0,234,918,351,1270,918,351,1270,1270	1	5	12	0
chr2	71569911	71569911	A	T	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon26:c.A2860T:p.M954L	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	193183	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|DYSF-related_disorder|Miyoshi_muscular_dystrophy_1|Qualitative_or_quantitative_defects_of_dysferlin|Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_myopathy|not_provided|Distal_myopathy_with_anterior_tibial_onset	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|.|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MedGen:C3661900|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768,Orphanet:178400	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.365	B	0.142	B	0.000	D	0.536	D	1.5	L	-3.26	D	0.595	D	0.695	D	0.405	3.184	16.66	5.21	2.099	4.968	13.333	0.427	0.119357099406	0.0018	0.000399361	0.0015	0.0006	0.0003	0	0.0009	0.0023	0.0011	0.0011	0.0015394	238	154602	rs144636654	0.0019	0.0019	0.0019	0.0019	0.0023	0.0019	0.0018	0.0022	0.0022	0.0003	0.0004	0	0	0.0014	0.0002	0.0023	0.0011	0.0011	0.0011	0.0011	0.0012	0.0011	0.0021	0.0010	0.0010	0.0016	0.0015	0.0001	0.0110	0.0005	0	0	0.0011	0	0.0018	0.0024	0.0021	0.075	0.34444	T	0.072	0.43721	T	0.22	0.34004	B	0.059	0.33681	B	0.000031	0.55875	D	0.179041	0.535949	0.32014	D	1.24	0.30952	L	-3.26	0.93587	D	-1.23	0.31170	N	0.545	0.58629	0.595	0.91837	D	0.695	0.89481	D	10	0.016784072	0.00355	T	0.119357	0.79963	D	0.427	0.73445	0.481	0.56142	0.728666893031	0.72625	0.3870414648326476	0.38619	0.183762377744	0.20665	0.661811113358	0.61669	T	0.216928	0.57923	T	-0.199729	0.20844	T	-0.0655313	0.65942	T	0.0104503878400541	0.00144	T	0.788521	0.42806	T	0.4309394	0.62813	0.37394166	0.62571	0.4560806	0.64427	0.41085327	0.65334	-9.462	0.71039	D	0.2181223142002124	0.29367	0.228	0.48029	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.956671	0.58003	23.9	0.967557018203686	0.30980	0.94170	0.60325	D	AEFDBI	0.738059	0.68306	D	0.0893388028369319	0.45966	2.844448	0.234044868793907	0.51747	3.354553	0.998542344303848	0.37167	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	4.955000	0.63343	.	.	0.741000	0.86335	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.333	0.59943	459	0.78817	.;.;.;.;Peroxin/Ferlin domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1352.98	34	chr2	71569911	.	A	T	1352.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=0.811;SOR=0.703	GT:AD:DP:GQ:PL	0/1:85,59:144:99:1367,0,2090	20	0	1	0
chr2	88738027	88738027	C	T	exonic	RPIA	.	synonymous SNV	RPIA:NM_144563:exon8:c.C789T:p.D263D,	.	.	.	.	.	.	.	.	.	.	.	885656	not_provided|Deficiency_of_ribose-5-phosphate_isomerase	MedGen:C3661900|MONDO:MONDO:0012073,MedGen:C1291609,OMIM:608611,Orphanet:440706	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3e-05	.	0.0002	0	8.64e-05	0	0	0.0003	0.0011	0	0.0001294	20	154602	rs368582524	9.304e-05	9.44e-05	9.529e-05	9.076e-05	0.0002	8.026e-05	7.519e-05	9.116e-05	8.526e-05	0	4.472e-05	0.0002	0	3.745e-05	0.0002	0.0001	0.0001	0	0.0001	0.0001	0.0001	8.075e-05	0.0002	6.514e-05	5.325e-05	0.0001	0.0001	0	0	0	0.0003	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	1945.98	35	chr2	88738027	.	C	T	1945.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.504e+00;DP=854;ExcessHet=0.0000;FS=2.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=0.759;SOR=0.499	GT:AD:DP:GQ:PL	0/1:76,84:160:99:1960,0,1912	20	0	1	0
chr2	98397175	98397175	G	C	exonic	CNGA3	.	nonsynonymous SNV	CNGA3:NM_001079878:exon7:c.G1951C:p.V651L	Achromatopsia 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	885774	Achromatopsia_2|not_provided	MONDO:MONDO:0009003,MedGen:C1857618,OMIM:216900,Orphanet:49382|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	N	0.927	D	0.505	N	-4.19	D	-0.113	T	0.678	D	0.039	-0.995	0.268	1.56	0.109	-0.028	6.317	0.286	0.0316259657648	0.0002	.	8.397e-05	0	0	0	0	0.0001	0.0011	0	0.0001035	16	154602	rs148496805	9.167e-05	9.166e-05	9.529e-05	8.801e-05	0.0002	7.891e-05	7.365e-05	9.203e-05	8.612e-05	2.987e-05	2.236e-05	0	0	1.874e-05	0.0002	0.0001	0.0001	1.159e-05	0.0001	0.0001	0.0001	8.069e-05	0.0002	7.09e-05	5.746e-05	0.0001	0.0001	0	0	0	0	0	0	0	0.0002	0.0005	0	0.892	0.03289	T	0.861	0.03399	T	0.0	0.02946	B	0.001	0.04355	B	0.000101	0.51296	N	0.172600	0.927342	0.36862	D	1.41	0.35535	L	-4.24	0.97394	D	-0.17	0.09627	N	0.02	0.13911	-0.1132	0.79793	T	0.678	0.88855	D	10	0.040115446	0.02553	T	0.031626	0.53663	D	0.286	0.60456	0.197	0.10975	0.804374619938	0.80255	0.09062399669407038	0.08995	0.0971038161414	0.10970	0.311932623386	0.12198	T	0.039017	0.25043	T	-0.247697	0.14383	T	-0.33853	0.40512	T	0.0157816986806412	0.00367	T	0.668933	0.27772	T	0.310859	0.53860	0.0971345	0.23108	0.310859	0.53860	0.0971345	0.23107	-1.378	0.01631	T	.	.	0.110	0.21466	B	.;.;.;.	.;.;.;.	0.764580	0.11341	7.962	0.44932943162929706	0.03490	0.37477	0.25771	N	AEFBI	0.343264	0.43914	N	-1.11032061209616	0.06459	0.297378	-1.00482894387669	0.09679	0.4829268	0.00952608698063835	0.11869	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.42	1.56	0.22423	0.577000	0.23461	1.265000	0.25255	-0.119000	0.14319	0.999000	0.42656	0.992000	0.31684	0.891000	0.42908	0.2308:0.1336:0.6356:0.0	6.317	0.20404	279	0.89001	.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	2135.98	35	chr2	98397175	.	G	C	2135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=0.912;SOR=0.693	GT:AD:DP:GQ:PL	0/1:61,79:140:99:2150,0,1599	20	0	1	0
chr2	113062899	113062899	T	C	UTR3	IL36RN	NM_173170:c.*222T>C;NM_012275:c.*222T>C	.	.	Psoriasis 14, pustular, Autosomal recessive	.	910	207	66	339	0	744	0.642487	.	.	283604	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.108433	16764	154602	rs2515401	0.6460	0.6350	0.6359	0.6549	0.7967	0.6440	0.6431	0.7899	0.7872	0.7121	0.6981	0.6741	0.7292	0.6065	0.7411	0.6034	0.6506	0.7967	0.6525	0.6525	0.6494	0.6557	0.8018	0.6490	0.6476	0.7807	0.7721	0.7072	0.7566	0.6635	0.6876	0.7070	0.6292	0.7381	0.6008	0.6886	0.8018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1934.59	4	chr2	113062899	.	T	C	1934.59	.	AC=26;AF=0.722;AN=36;BaseQRankSum=-6.740e-01;DP=101;ExcessHet=0.0192;FS=2.320;InbreedingCoeff=0.2694;MLEAC=28;MLEAF=0.778;MQ=60.00;MQRankSum=0.00;QD=33.36;ReadPosRankSum=0.00;SOR=0.205	GT:AD:DP:GQ:PL	1/1:0,2:2:6:81,6,0	3	11	4	3
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.938	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.502	24.2	5.82	2.764	6.476	18.870	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	547.01	131	chr2	151680729	.	C	T	547.01	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.151e+00;DP=1823;ExcessHet=0.6776;FS=116.428;InbreedingCoeff=-0.1070;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.04;ReadPosRankSum=1.23;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:113,19:136:99:.:.:99,0,2291	17	0	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8128.42	49	chr2	171448665	.	C	CT	8128.42	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.490;DP=809;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2857;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=-2.670e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,17:36:99:0|1:171448665_C_CT:619,0,737:171448665	8	1	12	0
chr2	171448667	171448667	C	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	.	305	1005	21	3	188	215	0.0132548	.	.	189063	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207069	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	9299.46	49	chr2	171448667	.	C	T	9299.46	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.544;DP=842;ExcessHet=6.1794;FS=1.204;InbreedingCoeff=-0.2857;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=18.31;ReadPosRankSum=0.040;SOR=0.580	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,17:36:99:0|1:171448665_C_CT:619,0,737:171448665	8	1	12	0
chr2	171458135	171458135	T	-	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	.	50	730	457	105	180	847	0.313587	.	.	1258517	not_provided|not_specified|Woodhouse-Sakati_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	10184.04	71	chr2	171458134	.	AT	ATT,A	10184.04	.	AC=4,14;AF=0.095,0.333;AN=42;BaseQRankSum=0.154;DP=1314;ExcessHet=8.7631;FS=0.633;InbreedingCoeff=-0.3611;MLEAC=4,14;MLEAF=0.095,0.333;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.111;SOR=0.809	GT:AD:DP:GQ:PL	0/2:28,0,24:52:99:521,605,1306,0,701,629	5	0	3	0
chr2	171787879	171787879	C	T	exonic	SLC25A12	.	nonsynonymous SNV	SLC25A12:NM_003705:exon16:c.G1654A:p.A552T,	Epileptic encephalopathy, early infantile, 39, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	537369	Developmental_and_epileptic_encephalopathy,_39|SLC25A12-related_disorder|not_provided	MONDO:MONDO:0013056,MedGen:C2751855,OMIM:612949,Orphanet:353217|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.5	T	0.327	B	0.094	B	0.000	D	1.000	D	0.635	N	-1.13	T	-0.685	T	0.278	T	0.492	3.112	16.40	5.48	2.729	5.907	19.724	0.325	0.0318555262747	0.0004	0.000599042	0.0007	0.0002	0.0002	0	0.0002	0.0005	0	0.0028	0.0006015	93	154602	rs142912356	0.0006	0.0006	0.0005	0.0007	0.0039	0.0006	0.0006	0.0035	0.0034	2.987e-05	2.236e-05	0.0023	0	3.744e-05	0.0012	0.0004	0.0005	0.0039	0.0006	0.0006	0.0006	0.0005	0.0029	0.0005	0.0004	0.0018	0.0014	0.0001	0	0.0003	0.0037	0	9.416e-05	0.0034	0.0007	0.0009	0.0029	0.333	0.13003	T	0.394	0.15305	T	0.327	0.33167	B	0.094	0.30180	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.415	0.12483	N	-1.13	0.77719	T	-0.9	0.24244	N	0.285	0.32259	-0.6847	0.61155	T	0.278	0.65017	T	10	0.011983365	0.00259	T	0.031856	0.53836	D	0.325	0.64725	.	.	0.625339872221	0.62229	0.7098314830250104	0.70925	0.87883234128	0.69681	0.887099981308	0.94894	D	0.193114	0.54848	T	-0.292638	0.09373	T	-0.196495	0.54978	T	0.0372505274160677	0.03200	T	0.979435	0.92911	D	0.13211493	0.30773	0.17223443	0.39463	0.13211493	0.30773	0.17223443	0.39463	-7.615	0.58415	D	0.14822123176283156	0.17239	0.102	0.18206	B	.	.	4.247249	0.64440	24.7	0.99428100312338363	0.64130	0.94155	0.60279	D	AEFDBHCI	0.737542	0.68270	D	-0.0106801311223276	0.41371	2.473384	0.169051194313836	0.48160	3.035751	0.999999999964269	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.719019	0.79029	0	0.635551	0.53088	0	.	.	5.48	5.48	0.80675	4.917000	0.63068	7.694000	0.65937	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.724	0.96148	570	0.70478	.	.	.	.	.	.	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	0.02381	1817.98	41	chr2	171787879	.	C	T	1817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.37;DP=1000;ExcessHet=0.0000;FS=8.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-8.480e-01;SOR=1.336	GT:AD:DP:GQ:PL	0/1:77,70:147:99:1832,0,1585	20	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	809.98	36	chr2	178460454	.	T	C	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.988;DP=751;ExcessHet=0.0000;FS=0.902;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=0.431;SOR=0.825	GT:AD:DP:GQ:PL	0/1:39,34:73:99:824,0,943	20	0	1	0
chr2	178534020	178534020	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.A75400G:p.I25134V	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	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|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|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.437	B	0.235	B	.	.	1.000	D	0.05	N	-0.06	T	-0.792	T	0.135	T	0.301	1.222	9.957	5.59	2.130	5.029	11.421	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2798.98	114	chr2	178534020	.	T	C	2798.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.398e+00;DP=2215;ExcessHet=0.0000;FS=0.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.37;ReadPosRankSum=-1.485e+00;SOR=0.676	GT:AD:DP:GQ:PL	0/1:148,122:270:99:2813,0,3765	20	0	1	0
chr2	178534724	178534724	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G74696A:p.R24899H	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	not_provided|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|Tibial_muscular_dystrophy|Cardiomyopathy|Primary_dilated_cardiomyopathy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.105	B	0.019	B	.	.	1.000	D	1.815	L	0.72	T	-0.916	T	0.142	T	0.399	3.231	16.83	5.14	1.558	4.984	15.569	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2335.98	114	chr2	178534724	.	C	T	2335.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.88;DP=2048;ExcessHet=0.0000;FS=0.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.24;ReadPosRankSum=-4.140e-01;SOR=0.794	GT:AD:DP:GQ:PL	0/1:82,82:164:99:2350,0,2129	20	0	1	0
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|not_specified|Hypertrophic_cardiomyopathy	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1402.97	160	chr2	178535858	.	GA	G	1402.97	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.350e-01;DP=3018;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.4826;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=0.92;ReadPosRankSum=0.092;SOR=0.674	GT:AD:DP:GQ:PL	0/1:94,16:127:99:101,0,2073	7	0	14	0
chr2	178545939	178545939	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon171:c.C68102T:p.S22701F	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	0	1496	26	0	0	26	0.00861498	.	.	56719	Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|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:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	2.49	M	0.2	T	-0.126	T	0.442	T	0.545	3.668	18.64	5.82	2.756	7.923	20.109	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2149.98	35	chr2	178545939	.	G	A	2149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=931;ExcessHet=0.0000;FS=1.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.043;SOR=0.777	GT:AD:DP:GQ:PL	0/1:135,83:218:99:2164,0,3789	20	0	1	0
chr2	178550073	178550073	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon165:c.G64570A:p.A21524T	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	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy|not_specified|Cardiovascular_phenotype|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Primary_dilated_cardiomyopathy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|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	D	1.0	D	0.999	D	.	.	1.000	D	1.495	L	-0.5	T	-0.069	T	0.488	T	0.42	4.903	28.2	5.74	2.873	4.869	20.298	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2272.98	42	chr2	178550073	.	C	T	2272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.614e+00;DP=1179;ExcessHet=0.0000;FS=4.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-9.070e-01;SOR=0.564	GT:AD:DP:GQ:PL	0/1:107,90:197:99:2287,0,3028	20	0	1	0
chr2	178552074	178552074	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon163:c.T63631G:p.C21211G	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	1	1495	24	2	0	28	0.00927767	.	.	56665	Primary_dilated_cardiomyopathy|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|TTN-related_myopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified	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:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0100175,MedGen:CN294812|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	1.000	D	0.86	L	0.46	T	-0.580	T	0.248	T	0.664	3.210	16.75	5.76	2.195	9.339	16.075	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2842.98	45	chr2	178552074	.	A	C	2842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e-01;DP=989;ExcessHet=0.0000;FS=6.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=0.304;SOR=0.709	GT:AD:DP:GQ:PL	0/1:145,110:255:99:2857,0,3876	20	0	1	0
chr2	178552364	178552364	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon163:c.G63341A:p.R21114H	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	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|not_provided|Tibial_muscular_dystrophy|not_specified|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy	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:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|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	D	1.0	D	0.999	D	.	.	1.000	D	1.38	L	-0.33	T	-0.204	T	0.431	T	0.366	3.370	17.36	5.76	2.882	6.086	20.324	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2264.98	45	chr2	178552364	.	C	T	2264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=918;ExcessHet=0.0000;FS=2.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=-3.330e-01;SOR=0.897	GT:AD:DP:GQ:PL	0/1:96,84:180:99:2279,0,2465	20	0	1	0
chr2	178563572	178563572	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.C55365A:p.N18455K	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	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Cardiomyopathy|Primary_dilated_cardiomyopathy	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	1.000	D	2.735	M	0.35	T	-0.467	T	0.323	T	0.194	1.156	9.708	2.79	0.863	3.273	7.167	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2356.98	103	chr2	178563572	.	G	T	2356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=1852;ExcessHet=0.0000;FS=1.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-9.460e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/1:94,88:182:99:2371,0,2564	20	0	1	0
chr2	178583028	178583028	G	A	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon141:c.C38580T:p.S12860S	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	1471	50	0	0	50	0.0167112	.	.	56395	not_provided|Tibial_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified	MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.00159744	0.0029	0.0001	0.0025	0.0006	0.0003	0.0020	0.0069	0.0104	0.0023738	367	154602	rs72646867	0.0014	0.0014	0.0011	0.0017	0.0098	0.0014	0.0013	0.0092	0.0090	0.0002	0.0016	0.0028	0.0001	0.0002	0.0089	0.0008	0.0023	0.0098	0.0011	0.0011	0.0008	0.0013	0.0093	0.0009	0.0009	0.0072	0.0064	4.814e-05	0.0132	0.0012	0.0003	0.0004	9.427e-05	0.0034	0.0011	0.0019	0.0093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	2104.98	36	chr2	178583028	.	G	A	2104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=861;ExcessHet=0.0000;FS=10.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-3.500e-01;SOR=1.389	GT:AD:DP:GQ:PL	0/1:83,81:164:99:2119,0,1917	20	0	1	0
chr2	178584852	178584852	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon138:c.G37594A:p.V12532M	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	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Primary_dilated_cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|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	D	0.999	D	0.989	D	.	.	1.000	D	3.61	H	-0.35	T	0.409	D	0.629	D	0.344	3.777	19.18	6.03	2.861	3.315	20.557	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	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2483.98	35	chr2	178584852	.	C	T	2483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.280e-01;DP=927;ExcessHet=0.0000;FS=2.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-4.720e-01;SOR=0.870	GT:AD:DP:GQ:PL	0/1:100,96:196:99:2498,0,2638	20	0	1	0
chr2	178612802	178612802	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon93:c.G22724C:p.S7575T	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|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|Tibial_muscular_dystrophy	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:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.997	D	0.98	D	.	.	1.000	D	1.62	L	-0.11	T	-0.155	T	0.443	T	0.243	2.209	13.34	5.71	2.697	7.770	19.85	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2072.98	59	chr2	178612802	.	C	G	2072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=983;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.45;ReadPosRankSum=0.710;SOR=0.719	GT:AD:DP:GQ:PL	0/1:54,72:126:99:2087,0,1361	20	0	1	0
chr2	178617806	178617806	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon81:c.C20350A:p.P6784T	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	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|not_specified|Primary_dilated_cardiomyopathy|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|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:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.255	B	0.071	B	.	.	1.000	N	1.15	L	0.74	T	-0.891	T	0.128	T	0.276	1.504	10.98	5.54	2.779	4.772	19.841	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1991.98	33	chr2	178617806	.	G	T	1991.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.955;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-4.670e-01;SOR=0.660	GT:AD:DP:GQ:PL	0/1:91,79:170:99:2006,0,2323	20	0	1	0
chr2	178659026	178659026	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon155:c.C31720T:p.P10574S	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	not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Primary_dilated_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.261	B	0.07	B	.	.	1.000	D	2.305	M	-0.61	T	-0.642	T	0.242	T	0.215	0.830	8.346	1.01	0.850	0.235	1.972	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	160.0	13	chr2	178659026	.	G	A	160.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=278;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=25.85;MQRankSum=-1.989e+00;QD=13.33;ReadPosRankSum=-8.660e-01;SOR=0.293	GT:AD:DP:GQ:PL	0/1:5,7:12:99:174,0,121	20	0	1	0
chr2	178675085	178675085	T	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon145:c.A30663C:p.E10221D	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	not_provided|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|not_specified|Primary_dilated_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.256	B	0.076	B	.	.	1.000	D	1.79	L	-0.99	T	-0.656	T	0.287	T	0.13	1.930	12.41	3.31	0.428	1.245	7.624	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1149.98	34	chr2	178675085	.	T	G	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e-01;DP=782;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-3.640e-01;SOR=0.642	GT:AD:DP:GQ:PL	0/1:38,49:87:99:1164,0,852	20	0	1	0
chr2	178698917	178698917	A	-	intronic	TTN	.	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	602	811	65	11	33	120	0.050907	.	.	284061	Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Hypertrophic_cardiomyopathy	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3475	0.2323	0.3611	0.3926	0.3437	0.3114	0.3652	0.4068	0.0002587	40	154602	rs368277751	0.2822	0.2893	0.2800	0.2846	0.3367	0.2814	0.2810	0.3308	0.3284	0.3185	0.3091	0.3275	0.3367	0.3028	0.2767	0.2747	0.2980	0.3072	0.0042	0.0065	0.0033	0.0052	0.0055	0.0038	0.0037	0.0042	0.0038	0.0019	0	0.0055	0.0081	0.0039	0.0128	0	0.0043	0.0037	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	843.68	31	chr2	178698916	.	TA	T,TAA	843.68	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-8.020e-01;DP=531;ExcessHet=1.7912;FS=2.892;InbreedingCoeff=-0.1674;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=6.49;ReadPosRankSum=0.457;SOR=0.497	GT:AD:DP:GQ:PL	0/1:14,4,0:18:48:48,0,486,91,498,589	15	0	5	0
chr2	178717244	178717244	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon85:c.G21758A:p.R7253H	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	Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	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|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.99	D	0.683	P	.	.	1.000	D	1.105	L	-0.32	T	-0.418	T	0.313	T	0.381	0.902	8.669	5.52	2.745	1.953	19.812	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1531.98	34	chr2	178717244	.	C	T	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.360e-01;DP=833;ExcessHet=0.0000;FS=1.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-5.530e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/1:68,64:132:99:1546,0,1676	20	0	1	0
chr2	178720104	178720104	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon78:c.C19806G:p.F6602L	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	Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy	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|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.885	P	0.484	P	.	.	0.993	D	1.77	L	-0.23	T	-0.546	T	0.246	T	0.388	1.199	9.870	-2.56	-0.309	0.884	13.015	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2364.98	41	chr2	178720104	.	G	C	2364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.972e+00;DP=935;ExcessHet=0.0000;FS=1.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.160;SOR=0.572	GT:AD:DP:GQ:PL	0/1:91,96:187:99:2379,0,2404	20	0	1	0
chr2	178727190	178727190	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon66:c.A16443G:p.I5481M	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	not_provided|Tibial_muscular_dystrophy|not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Primary_dilated_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|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|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|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	D	0.001	B	0.008	B	.	.	1.000	D	1.035	L	0.97	T	-1.083	T	0.056	T	0.344	0.299	5.621	-6.74	-1.267	-0.954	2.94	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1517.98	38	chr2	178727190	.	T	C	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.380;DP=876;ExcessHet=0.0000;FS=2.830;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=-1.496e+00;SOR=0.490	GT:AD:DP:GQ:PL	0/1:97,66:163:99:1532,0,2551	20	0	1	0
chr2	178729332	178729332	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon61:c.A15092G:p.N5031S	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	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Tibial_muscular_dystrophy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Primary_dilated_cardiomyopathy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|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	D	0.362	B	0.11	B	.	.	1.000	D	2.895	M	0.32	T	-0.555	T	0.244	T	0.2	1.084	9.426	5.92	2.255	6.281	12.2	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2419.98	46	chr2	178729332	.	T	C	2419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.191e+00;DP=901;ExcessHet=0.0000;FS=1.215;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=0.369;SOR=0.582	GT:AD:DP:GQ:PL	0/1:77,92:169:99:2434,0,2069	20	0	1	0
chr2	178795030	178795030	T	C	exonic	TTN	.	synonymous SNV	TTN:NM_001256850: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	Tibial_muscular_dystrophy|Cardiovascular_phenotype|TTN-related_myopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tip-toe_gait|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|not_specified	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|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|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374	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	1	1	0.02381	3369.98	34	chr2	178795030	.	T	C	3369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.035e+00;DP=997;ExcessHet=0.0000;FS=2.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.684;SOR=0.866	GT:AD:DP:GQ:PL	0/1:151,137:288:99:3384,0,3889	20	0	1	0
chr2	181678271	181678271	G	T	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.C590A:p.P197H,	Maturity-onset diabetes of the young 6	.	0	1430	90	2	0	94	0.0318213	.	.	135209	Hypoinsulinemia|Monogenic_diabetes|not_specified|Maturity-onset_diabetes_of_the_young_type_6|not_provided	Human_Phenotype_Ontology:HP:0040216,MedGen:C2748055|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374|MONDO:MONDO:0011668,MedGen:C1853371,OMIM:606394,Orphanet:552|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.467	P	0.246	B	0.000	D	1.000	D	2.175	M	-0.16	T	-0.701	T	0.127	T	0.312	2.166	13.20	6.02	2.850	6.775	19.111	0.211	.	0.0193	0.00958466	0.0190	0.0035	0.0229	0.0003	0.0011	0.0243	0.0209	0.0210	0.0189325	2927	154602	rs8192556	0.0224	0.0224	0.0222	0.0227	0.0394	0.0222	0.0222	0.0352	0.0335	0.0028	0.0182	0.0467	0.0002	0.0034	0.0394	0.0243	0.0235	0.0215	0.0160	0.0160	0.0172	0.0147	0.0250	0.0154	0.0152	0.0240	0.0236	0.0039	0.0011	0.0128	0.0533	0.0002	0.0031	0.0374	0.0250	0.0227	0.0193	0.034	0.44029	D	0.329	0.18617	T	0.467	0.36479	P	0.246	0.38861	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	-0.16	0.65378	T	-3.57	0.68999	D	0.178	0.19190	-0.7009	0.60395	T	0.127	0.43277	T	10	0.005200088	0.00113	T	.	.	.	0.211	0.50185	.	.	.	.	0.6523947154151004	0.65175	1.42890423072	0.85769	0.706838607788	0.68135	T	0.432405	0.78019	T	-0.36366	0.03927	T	-0.271464	0.47672	T	0.0225593479104315	0.00972	T	0.911409	0.68582	D	0.43709826	0.63214	0.53251684	0.72988	0.43709826	0.63215	0.53251684	0.72988	-6.775	0.52373	T	0.4196720632099966	0.50863	0.869	0.80809	P	.	.	3.520050	0.49340	22.8	0.97725238709885853	0.35585	0.20757	0.21158	N	AEFDBHCI	0.921241	0.89443	D	0.480884192017316	0.65974	4.890575	0.588032692958553	0.74081	6.076715	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.526665	0.08891	0	.	.	6.02	6.02	0.97559	5.756000	0.68414	9.930000	0.82573	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.111	0.93299	854	0.34840	Neurogenic differentiation factor, domain of unknown function	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5748.66	34	chr2	181678271	.	G	T	5748.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.729;DP=924;ExcessHet=0.0000;FS=2.549;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=23.46;ReadPosRankSum=-1.410e-01;SOR=0.889	GT:AD:DP:GQ:PL	0/1:63,62:125:99:1684,0,1577	19	1	1	0
chr2	188994709	188994709	T	-	intronic	COL3A1	.	.	.	Ehlers-Danlos syndrome, type IV, Autosomal dominant	.	2	167	53	4	0	61	0.15443	.	.	196782	not_provided|Ehlers-Danlos_syndrome,_type_4|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MedGen:C3661900|MONDO:MONDO:0017314,MedGen:C0268338,OMIM:130050,Orphanet:286|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2166	.	0.3055	0.2236	0.2985	0.2936	0.2296	0.3440	0.3131	0.2426	0.0088366	230	26028	rs1300602712	0.1940	0.2215	0.1971	0.1910	0.2237	0.1933	0.1930	0.2123	0.2078	0.1050	0.1481	0.2419	0.1384	0.1439	0.2237	0.2090	0.1879	0.0986	0.1109	0.1107	0.1140	0.1077	0.1459	0.1095	0.1089	0.1435	0.1425	0.0552	0.2230	0.1183	0.1937	0.0715	0.0877	0.1857	0.1459	0.1425	0.0558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2328.88	33	chr2	188994708	.	CT	C	2328.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.050e-01;DP=1110;ExcessHet=0.6776;FS=4.451;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=7.39;ReadPosRankSum=-1.730e-01;SOR=1.039	GT:AD:DP:GQ:PL	0/1:30,49:79:99:1105,0,567	17	0	4	0
chr2	197487027	197487027	-	A	UTR3	HSPD1	NM_002156:c.*18_*19insT;NM_199440:c.*18_*19insT	.	.	Leukodystrophy, hypomyelinating, 4, Autosomal recessive;Spastic paraplegia 13, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	283711	Spastic_paraplegia,_autosomal_dominant|not_provided	MedGen:C0751602|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.413e-05	0	0.0006	0	0	1.692e-05	0	0	3.84e-05	1	26028	rs777031722	8.667e-05	7.722e-05	9.156e-05	8.208e-05	0.0006	7.142e-05	6.659e-05	0.0004	0.0003	8.133e-05	0.0006	0	0	0	0.0002	7.793e-05	0.0001	0	0.0002	0.0002	0.0003	0.0002	0.0017	0.0002	0.0002	0.0012	0.0010	7.229e-05	0	0.0017	0	0	0	0	7.353e-05	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	979.94	33	chr2	197487027	.	T	TA	979.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.730e-01;DP=738;ExcessHet=0.0000;FS=5.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=44.07;MQRankSum=1.75;QD=16.33;ReadPosRankSum=-4.800e-01;SOR=1.492	GT:AD:DP:GQ:PL	0/1:25,35:60:99:994,0,681	20	0	1	0
chr2	210642676	210642676	A	-	intronic	CPS1	.	.	.	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	.	9	1497	15	1	0	17	0.00564596	.	.	284558	not_provided|Congenital_hyperammonemia,_type_I	MedGen:C3661900|MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	0.00219649	0.0077	0.0010	0.0030	0	0.0102	0.0121	0.0074	0.0006	0.0017289	45	26028	rs577707531	0.0080	0.0080	0.0081	0.0078	0.0088	0.0078	0.0078	0.0086	0.0086	0.0010	0.0038	0.0200	2.521e-05	0.0107	0.0051	0.0088	0.0082	0.0008	0.0062	0.0061	0.0061	0.0062	0.0087	0.0058	0.0057	0.0081	0.0079	0.0014	0.0022	0.0064	0.0196	0	0.0090	0.0102	0.0087	0.0096	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1455.07	34	chr2	210642675	.	GA	G	1455.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.59;DP=795;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=-1.252e+00;SOR=0.749	GT:AD:DP:GQ:PL	0/1:25,25:50:99:649,0,664	19	0	2	0
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29369.66	106	chr2	233681881	.	T	G	29369.66	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.495e+00;DP=2097;ExcessHet=5.3459;FS=0.570;InbreedingCoeff=-0.2381;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=0.162;SOR=0.757	GT:AD:DP:GQ:PL	0/1:59,35:94:99:745,0,1782	4	4	13	0
chr2	233760233	233760233	-	AT	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	27314	Irinotecan_response|not_provided|not_specified|Lucey-Driscoll_syndrome|Crigler-Najjar_syndrome_type_1|Gilbert_syndrome|Crigler-Najjar_syndrome,_type_II|Bilirubin,_serum_level_of,_quantitative_trait_locus_1	MedGen:CN077989|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C1866173,OMIM:601816	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|drug_response|other	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32528	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs34983651	0.3008	0.3073	0.2983	0.3034	0.3582	0.3001	0.2997	0.3546	0.3532	0.3449	0.2826	0.3392	0.1204	0.3429	0.3139	0.2993	0.3013	0.3582	0.3460	0.3472	0.3436	0.3485	0.4077	0.3435	0.3425	0.3928	0.3907	0.3979	0.4218	0.3198	0.3809	0.1263	0.4167	0.3231	0.3199	0.3187	0.4077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	5490.5	20	chr2	233760233	.	C	CAT	5490.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-8.570e-01;DP=432;ExcessHet=1.5101;FS=24.371;InbreedingCoeff=-0.0101;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=21.45;ReadPosRankSum=0.00;SOR=0.091	GT:AD:DP:GQ:PL	0/1:9,8:17:99:249,0,288	8	3	10	0
chr3	15521729	15521729	-	TG	upstream	COLQ	dist=23	.	.	Myasthenic syndrome, congenital, 5, Autosomal recessive	.	67	130	17	12	0	41	0.136213	.	.	293472	not_provided|Congenital_Myasthenic_Syndrome,_Recessive	MedGen:C3661900|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1179837883	0.1825	0.2084	0.1812	0.1838	0.3061	0.1819	0.1816	0.3005	0.2982	0.3061	0.2555	0.1878	0.2355	0.1166	0.2281	0.1758	0.1937	0.1911	0.2696	0.2733	0.2717	0.2674	0.3754	0.2674	0.2665	0.3703	0.3683	0.3754	0.1670	0.3074	0.2298	0.2766	0.1317	0.2705	0.2249	0.2744	0.2276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3088.27	26	chr3	15521729	.	T	TTG	3088.27	.	AC=11;AF=0.262;AN=42;BaseQRankSum=0.062;DP=734;ExcessHet=7.7275;FS=1.087;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=0.115;SOR=0.769	GT:AD:DP:GQ:PL	0/1:27,8:35:99:164,0,884	10	0	11	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	.	335	305	451	409	22	1291	0.675359	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	7075.96	9	chr3	27721936	.	G	GCGGCGC,GCGC	7075.96	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-5.120e-01;DP=481;ExcessHet=3.4384;FS=3.062;InbreedingCoeff=-0.1455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=22.18;ReadPosRankSum=-4.110e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:16,9,0:25:99:325,0,605,373,632,1005	5	3	12	0
chr3	49420328	49420328	C	T	exonic	AMT	.	synonymous SNV	AMT:NM_001164711:exon3:c.G186A:p.L62L	Glycine encephalopathy, Autosomal recessive	.	0	1493	28	1	0	30	0.00994695	.	.	251227	Non-ketotic_hyperglycinemia|not_provided|not_specified	Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.999	T	0.121	T	.	0.790	8.162	1.39	0.685	0.115	1.557	0.035	.	0.0005	.	0.0010	0.0002	0.0008	0	0	0.0014	0	0.0013	0.0009573	148	154602	rs145194293	0.0008	0.0008	0.0008	0.0009	0.0269	0.0008	0.0008	0.0235	0.0221	0.0008	0.0009	0.0072	0	0	0.0269	0.0005	0.0020	0.0014	0.0007	0.0007	0.0007	0.0008	0.0011	0.0006	0.0006	0.0007	0.0006	9.62e-05	0	0.0011	0.0086	0	0.0002	0.0068	0.0007	0.0019	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1913.11	35	chr3	49420328	.	C	T	1913.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.346;DP=851;ExcessHet=0.1072;FS=0.546;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=0.939;SOR=0.621	GT:AD:DP:GQ:PL	0/1:53,44:97:99:1019,0,1262	19	0	2	0
chr3	58148789	58148789	C	T	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164319:exon35:c.C5956T:p.R1986C	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	795463	not_provided|Spondylocarpotarsal_synostosis_syndrome|FLNB-Related_Spectrum_Disorders	MedGen:C3661900|MONDO:MONDO:0010094,MedGen:C1848934,OMIM:272460,Orphanet:3275|MedGen:CN239400	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.945	D	0.007	N	1.000	D	0.55	N	-1.92	D	0.300	D	0.619	D	0.498	4.389	23.2	5.99	2.840	3.231	20.478	0.481	0.0579027307783	7.7e-05	0.000199681	0.0003	0.0003	0.0003	0	0	0.0003	0.0011	0.0006	0.0002458	38	154602	rs138034708	0.0001	0.0001	0.0001	0.0002	0.0028	0.0001	0.0001	0.0017	0.0014	0.0004	0.0002	0.0003	0	0	0.0028	8.903e-05	0.0004	0.0004	0.0001	0.0001	7.71e-05	0.0002	0.0003	9.145e-05	7.701e-05	0.0001	8.282e-05	0.0001	0	0.0003	0	0	0	0	0.0001	0.0009	0	0.021	0.49117	D	0.032	0.53788	D	0.999	0.77913	D	0.849	0.63994	P	0.006517	0.31983	N	0.379586	0.999758	0.48888	D	0.895	0.22405	L	-1.92	0.84773	D	-3.6	0.70191	D	0.555	0.70966	0.300	0.87553	D	0.619	0.86559	D	10	0.33929753	0.51019	T	0.057903	0.67131	D	0.481	0.77142	.	.	0.907696214181	0.90677	0.45604988122069645	0.45522	0.932039959237	0.71862	0.553962826729	0.46416	T	0.73193	0.92504	D	-0.155314	0.27482	T	-0.132914	0.60726	T	0.112456031143665	0.13676	T	0.983402	0.94639	D	0.2090826	0.43164	0.20875661	0.45192	0.2090826	0.43164	0.20875661	0.45191	-8.529	0.65010	D	0.17818408462602342	0.22824	0.142	0.31304	B	.;.;.;.;.	.;.;.;.;.	4.855655	0.79407	27.1	0.99934517465582462	0.99535	0.88561	0.48546	D	AEFDGBCI	0.559178	0.56810	D	0.54586568376157	0.69831	5.413199	0.610959799776502	0.75734	6.363275	0.999999959245307	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.99	5.99	0.97299	3.302000	0.51557	2.689000	0.34074	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.478	0.99191	503	0.75780	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1595.98	37	chr3	58148789	.	C	T	1595.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=890;ExcessHet=0.0000;FS=1.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.137;SOR=0.583	GT:AD:DP:GQ:PL	0/1:90,67:157:99:1610,0,1993	20	0	1	0
chr3	128813605	128813605	A	G	UTR3	RAB7A	NM_004637:c.*183A>G	.	.	Charcot-Marie-Tooth disease, type 2B, Autosomal dominant	.	270	1019	118	16	99	249	0.0685558	.	.	292532	not_provided|Charcot-Marie-Tooth_disease_type_2B	MedGen:CN517202|MONDO:MONDO:0010949,MedGen:C1833219,OMIM:600882,Orphanet:99936	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032273	84	26028	rs774054837	0.0632	0.0495	0.0625	0.0639	0.1123	0.0625	0.0622	0.1022	0.0983	0.0134	0.0332	0.0802	0.0007	0.0519	0.1123	0.0751	0.0637	0.0593	0.0339	0.0338	0.0344	0.0333	0.0513	0.0331	0.0328	0.0499	0.0493	0.0087	0.0275	0.0295	0.0527	0.0004	0.0314	0.0586	0.0513	0.0359	0.0433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	761.01	4	chr3	128813605	.	A	G,*	761.01	.	AC=5,1;AF=0.139,0.028;AN=36;BaseQRankSum=0.703;DP=157;ExcessHet=2.0135;FS=1.404;InbreedingCoeff=-0.2508;MLEAC=6,1;MLEAF=0.167,0.028;MQ=60.00;MQRankSum=0.00;QD=16.19;ReadPosRankSum=-4.140e-01;SOR=0.450	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,6,0:9:99:0|1:128813603_G_A:223,0,108,232,126,358:128813603	12	0	5	3
chr3	149141200	149141200	-	TT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	293180	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0874	0.2678	0.0623	0.0136	0.0567	0.0669	0.0866	0.1206	0.0001153	3	26028	rs111598115	0.0494	0.0561	0.0489	0.0500	0.2238	0.0491	0.0490	0.2194	0.2175	0.2238	0.0419	0.0374	0.0039	0.0417	0.0609	0.0441	0.0556	0.0824	0.0888	0.0889	0.0892	0.0882	0.2303	0.0875	0.0869	0.2264	0.2248	0.2303	0.0271	0.0446	0.0315	0	0.0337	0.0292	0.0341	0.0674	0.0505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	1/2:0,118,213,22,1:366:99:13657,5488,4402,2876,0,1891,8471,4027,2413,7830,11968,5168,2910,8772,12271	5	0	0	0
chr3	149141200	149141200	-	TTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	289084	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	1/2:0,118,213,22,1:366:99:13657,5488,4402,2876,0,1891,8471,4027,2413,7830,11968,5168,2910,8772,12271	5	0	0	0
chr3	149141200	149141200	-	TTTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	293178	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0744	0.0191	0.0463	0.0847	0.0760	0.0775	0.0748	0.1106	0.0070309	183	26028	rs111598115	0.1260	0.1391	0.1267	0.1253	0.1355	0.1255	0.1253	0.1333	0.1328	0.0161	0.0544	0.0660	0.1337	0.1271	0.0493	0.1336	0.1139	0.1355	0.1620	0.1643	0.1603	0.1639	0.2658	0.1603	0.1596	0.2538	0.2490	0.0392	0.1806	0.1516	0.1322	0.2658	0.2489	0.1204	0.2160	0.1362	0.2525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	1/2:0,118,213,22,1:366:99:13657,5488,4402,2876,0,1891,8471,4027,2413,7830,11968,5168,2910,8772,12271	5	0	0	0
chr3	149172318	149172318	-	CTCACACA	UTR3	HPS3	NM_001308258:c.*96_*97insCTCACACA;NM_032383:c.*96_*97insCTCACACA	.	.	Hermansky-Pudlak syndrome 3	.	434	884	31	28	145	232	0.0469003	.	.	289085	not_provided|Hermansky-Pudlak_syndrome	MedGen:CN517202|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041494	108	26028	rs374839757	0.0470	0.0259	0.0407	0.0524	0.1219	0.0465	0.0463	0.1194	0.1183	0.0082	0.0199	0.0430	0.0037	0.0244	0.0376	0.0428	0.0427	0.1219	0.0473	0.0460	0.0471	0.0474	0.1446	0.0463	0.0459	0.1354	0.1317	0.0112	0.0195	0.0419	0.0634	0.0071	0.0295	0.0625	0.0679	0.0509	0.1446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2465.44	14	chr3	149172318	.	TCA	TCTCACACACA,T,TCACACACACACACACA,TCACACA,TCACACACA	2465.44	.	AC=4,4,4,3,2;AF=0.095,0.095,0.095,0.071,0.048;AN=42;BaseQRankSum=0.00;DP=284;ExcessHet=0.1324;FS=9.143;InbreedingCoeff=0.2537;MLEAC=4,4,3,2,2;MLEAF=0.095,0.095,0.071,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=22.41;ReadPosRankSum=-5.240e-01;SOR=2.033	GT:AD:DP:GQ:PL	3/3:0,0,0,2,0,0:2:6:90,90,90,90,90,90,6,6,6,0,90,90,90,6,90,90,90,90,6,90,90	9	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5095.76	52	chr3	160258644	.	G	GA	5095.76	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.170e-01;DP=980;ExcessHet=1.5138;FS=1.222;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-1.520e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:14,19:33:99:438,0,298	12	1	8	0
chr3	170998041	170998041	G	A	exonic	SLC2A2	.	synonymous SNV	SLC2A2:NM_001278658:exon10:c.C1080T:p.F360F	Fanconi-Bickel syndrome, Autosomal recessive	.	2	712	648	160	0	968	0.404682	.	.	135795	not_specified|not_provided|Type_2_diabetes_mellitus|Fanconi-Bickel_syndrome	MedGen:CN169374|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:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3964	0.372604	0.3159	0.5942	0.2813	0.2418	0.2678	0.3020	0.3113	0.2840	0.310611	48021	154602	rs5398	0.2950	0.2951	0.2967	0.2933	0.6047	0.2943	0.2940	0.5978	0.5949	0.6047	0.2907	0.3167	0.2228	0.2633	0.3290	0.2893	0.3178	0.2786	0.3751	0.3754	0.3789	0.3713	0.5947	0.3726	0.3715	0.5885	0.5859	0.5947	0.2429	0.3398	0.3292	0.2307	0.2443	0.3151	0.2923	0.3645	0.2732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.3333	22157.43	130	chr3	170998041	.	G	A	22157.43	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.376e+00;DP=1743;ExcessHet=2.0984;FS=1.125;InbreedingCoeff=-0.0714;MLEAC=14;MLEAF=0.333;MQ=59.99;MQRankSum=0.00;QD=16.04;ReadPosRankSum=0.364;SOR=0.576	GT:AD:DP:GQ:PL	0/1:56,81:137:99:2009,0,1540	9	2	10	0
chr4	653934	653934	G	A	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_000283:exon4:c.G794A:p.R265Q	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	194288	not_provided|Retinitis_pigmentosa|Congenital_stationary_night_blindness_autosomal_dominant_2	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	1.0	D	0.999	D	0.000	D	1.000	D	1.78	L	-0.47	T	-0.291	T	0.466	T	0.898	4.982	29.2	5.26	2.449	9.447	16.361	0.577	0.0871653649265	0.0009	0.000599042	0.0012	0.0002	0.0007	0	0	0.0014	0.0011	0.0024	0.0011449	177	154602	rs144562730	0.0011	0.0011	0.0010	0.0012	0.0029	0.0010	0.0010	0.0022	0.0020	2.987e-05	0.0006	0.0003	0	1.882e-05	0.0029	0.0011	0.0011	0.0024	0.0008	0.0008	0.0008	0.0009	0.0014	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0005	0.0012	0	0	0.0034	0.0014	0	0.0012	0.158	0.23905	T	0.314	0.19539	T	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.76	0.45711	L	-0.47	0.70133	T	-2.12	0.48184	N	0.898	0.90363	-0.2915	0.75223	T	0.466	0.79394	T	10	0.16307157	0.30545	T	0.087165	0.74882	D	0.577	0.82912	.	.	0.907322125651	0.90639	0.6271360079418107	0.62646	0.638029974731	0.57550	0.719041347504	0.69907	T	0.682089	0.90675	D	0.00553052	0.52414	T	0.22931	0.84636	D	0.0421555607017681	0.04083	T	0.971203	0.89615	D	0.25590616	0.48628	0.1802327	0.40809	0.22691232	0.45381	0.18985724	0.42355	-10.332	0.75875	D	0.3592111516918084	0.45579	0.331	0.60415	B	.;.	.;.	5.511426	0.91687	32	0.99944450236363702	0.99868	0.99109	0.91358	D	AEFDBI	0.932479	0.92291	D	0.727626993757273	0.81445	7.523435	0.729338854430165	0.84606	8.339105	0.999999999928149	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	5.26	5.26	0.73479	9.578000	0.97357	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0:1.0:0.0	16.361	0.83100	799	0.44747	.;GAF domain|GAF domain	.	.	.	.	.	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	1	0	0.04762	2973.11	33	chr4	653934	.	G	A	2973.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.56;DP=936;ExcessHet=0.1072;FS=0.954;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-4.710e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:86,82:168:99:2111,0,2097	19	0	2	0
chr4	16006615	16006615	G	A	exonic	PROM1	.	synonymous SNV	PROM1:NM_001145851:exon11:c.C1350T:p.G450G	Cone-rod dystrophy 12;Macular dystrophy, retinal, 2, Autosomal dominant;Retinitis pigmentosa 41, Autosomal recessive;Stargardt disease 4	.	.	.	.	.	.	.	.	.	.	294074	not_provided|Cone-rod_dystrophy_12|Retinal_macular_dystrophy_type_2|Retinitis_pigmentosa|Stargardt_disease_4	MedGen:C3661900|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orphanet:319640|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786,Orphanet:827	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.697e-05	0	0	0.0002	0	2.062e-05	0	0.0002	3.23e-05	5	154602	rs779072238	1.714e-05	1.847e-05	1.227e-05	2.206e-05	0.0005	1.176e-05	9.94e-06	0.0001	7.583e-05	0	0	0	0.0001	1.879e-05	0.0005	7.202e-06	1.659e-05	9.363e-05	1.972e-05	1.97e-05	1.285e-05	2.692e-05	0.0002	5.24e-06	2.45e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	2085.98	35	chr4	16006615	.	G	A	2085.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.130e-01;DP=848;ExcessHet=0.0000;FS=2.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-3.270e-01;SOR=0.769	GT:AD:DP:GQ:PL	0/1:68,83:151:99:2100,0,1607	20	0	1	0
chr4	47943400	47943400	T	C	exonic	CNGA1	.	synonymous SNV	CNGA1:NM_001142564:exon6:c.A300G:p.E100E	Retinitis pigmentosa 49	.	74	1402	39	7	0	53	0.0185509	.	.	195551	not_specified|not_provided|Retinitis_pigmentosa|Retinitis_pigmentosa_49	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0013405,MedGen:C3151059,OMIM:613756,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0133	0.00838658	0.0164	0.0042	0.0073	0	0.0361	0.0224	0.0385	0.0104	0.0050517	781	154602	rs76061451	0.0163	0.0158	0.0163	0.0163	0.0279	0.0161	0.0160	0.0240	0.0226	0.0035	0.0097	0.0123	0	0.0279	0.0279	0.0172	0.0160	0.0108	0.0145	0.0146	0.0142	0.0148	0.0217	0.0140	0.0138	0.0208	0.0204	0.0024	0.0197	0.0108	0.0084	0	0.0277	0.0340	0.0217	0.0204	0.0155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	437.98	33	chr4	47943400	.	T	C	437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e-02;DP=628;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=0.796;SOR=0.551	GT:AD:DP:GQ:PL	0/1:13,17:30:99:452,0,320	20	0	1	0
chr4	55965813	55965815	AAG	-	exonic	CEP135	.	nonframeshift deletion	CEP135:NM_025009:exon8:c.998_1000del:p.E335del,	.	.	3	1480	38	1	0	40	0.0133333	.	.	207124	not_specified|not_provided|CEP135-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.000998403	0.0026	0.0003	0.0012	0	0.0065	0.0033	0.0057	0.0015	0.0002689	7	26028	rs1269311613	0.0021	0.0021	0.0021	0.0021	0.0168	0.0020	0.0020	0.0141	0.0131	0.0010	0.0018	0.0074	0	0.0073	0.0168	0.0017	0.0035	0.0014	0.0021	0.0021	0.0018	0.0024	0.0024	0.0019	0.0018	0.0021	0.0020	0.0004	0	0.0018	0.0092	0	0.0063	0.0034	0.0024	0.0057	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1731.94	34	chr4	55965812	.	AAAG	A	1731.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.675e+00;DP=811;ExcessHet=0.0000;FS=1.821;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.15;ReadPosRankSum=0.675;SOR=0.481	GT:AD:DP:GQ:PL	0/1:55,46:101:99:1746,0,2150	20	0	1	0
chr4	79977998	79977998	G	A	intronic	ANTXR2	.	.	.	Hyaline fibromatosis syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	299718	ANTXR2-related_disorder|Hyaline_fibromatosis_syndrome|not_provided	.|MONDO:MONDO:0009229,MedGen:C5574677,OMIM:228600,Orphanet:2028,Orphanet:498474|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0004	0	0.0002	0	0	0.0007	0	0	0.0004204	65	154602	rs112023055	0.0008	0.0008	0.0008	0.0009	0.0010	0.0008	0.0008	0.0010	0.0010	6.446e-05	0.0003	0	0	0	0.0002	0.0010	0.0006	4.977e-05	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0008	0.0007	0.0002	0	0.0003	0	0	0	0	0.0009	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	756.98	35	chr4	79977998	.	G	A	756.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=754;ExcessHet=0.0000;FS=0.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-1.159e+00;SOR=0.906	GT:AD:DP:GQ:PL	0/1:43,28:71:99:771,0,1120	20	0	1	0
chr5	236472	236472	G	T	exonic	SDHA	.	synonymous SNV	SDHA:NM_001294332:exon9:c.G1161T:p.L387L	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	YES	0	1450	67	5	0	77	0.025865	.	.	226823	Paragangliomas_5|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Hereditary_pheochromocytoma-paraganglioma|Hereditary_cancer-predisposing_syndrome|not_specified|Leigh_syndrome|not_provided	MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0146	0.0151757	0.0193	0.0025	0.0080	0	0.0364	0.0235	0.0121	0.0242	0.0176582	2730	154602	rs35964044	0.0163	0.0163	0.0157	0.0169	0.0373	0.0162	0.0161	0.0332	0.0317	0.0030	0.0103	0.0466	5.039e-05	0.0369	0.0373	0.0149	0.0201	0.0253	0.0154	0.0154	0.0142	0.0167	0.0251	0.0149	0.0147	0.0214	0.0201	0.0026	0	0.0184	0.0467	0.0002	0.0369	0.0102	0.0182	0.0227	0.0251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.1429	8274.01	37	chr5	236472	.	G	T	8274.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.537e+00;DP=1046;ExcessHet=0.1217;FS=0.570;InbreedingCoeff=0.2222;MLEAC=6;MLEAF=0.143;MQ=59.42;MQRankSum=1.00;QD=18.14;ReadPosRankSum=-5.390e-01;SOR=0.786	GT:AD:DP:GQ:PL	1/1:3,88:91:99:2835,198,0	16	1	4	0
chr5	38528850	38528853	ACAC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	18	95	41	30	42	143	0.347079	.	.	304338	not_specified|Stuve-Wiedemann_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0911	0.0372	0.0443	0.0489	0.0192	0.1161	0.0842	0.0855	0.0001617	25	154602	rs762238623	0.0461	0.0603	0.0450	0.0472	0.0799	0.0457	0.0456	0.0721	0.0691	0.0315	0.0263	0.1433	0.0287	0.0396	0.0799	0.0450	0.0515	0.0496	0.0145	0.0146	0.0151	0.0140	0.0281	0.0140	0.0138	0.0267	0.0262	0.0281	0	0.0095	0.0479	0.0074	0.0073	0.0263	0.0077	0.0180	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	6823.62	31	chr5	38528849	.	GACAC	G,GAC,GACACAC,GACACACAC	6823.62	.	AC=2,15,2,1;AF=0.048,0.357,0.048,0.024;AN=42;BaseQRankSum=-5.370e-01;DP=895;ExcessHet=8.0185;FS=2.856;InbreedingCoeff=-0.3364;MLEAC=2,15,2,1;MLEAF=0.048,0.357,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-5.950e-01;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:8,6,15,0,0:29:89:.:.:466,281,600,0,89,201,477,587,264,764,477,587,264,764,764	4	0	0	0
chr5	141945772	141945772	G	A	exonic	PCDH12	.	nonsynonymous SNV	PCDH12:NM_016580:exon4:c.C3164T:p.P1055L,	.	.	.	.	.	.	.	.	.	.	.	1577304	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.949	D	0.000	D	1.000	D	2.045	M	0.4	T	-0.465	T	0.318	T	0.743	4.834	27.5	5.46	2.572	8.512	16.787	0.300	0.0847171070025	0.0002	.	7.635e-05	0.0003	0	0	0	9.292e-05	0	0	6.47e-05	10	154602	rs140094371	1.848e-05	1.915e-05	2.315e-05	1.376e-05	0.0002	1.265e-05	1.085e-05	9.751e-05	6.951e-05	0.0002	0	0	2.519e-05	1.884e-05	0	1.349e-05	1.657e-05	2.319e-05	1.314e-05	1.313e-05	0	2.689e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0	0.012	0.54683	D	0.0	0.92824	D	1.0	0.90584	D	0.949	0.68658	D	0.000003	0.62929	D	0.061538	1	0.81001	D	2.545	0.74286	M	0.4	0.57261	T	-2.81	0.59389	D	0.463	0.49965	-0.4654	0.69885	T	0.318	0.68709	T	10	0.49248406	0.61074	T	0.084717	0.74385	D	0.300	0.62068	.	.	0.910399253702	0.90949	0.4272998446930275	0.42646	0.736878551072	0.63027	0.635178923607	0.57879	T	0.168293	0.51524	T	0.0133207	0.53478	T	0.0873345	0.76068	D	0.794986426830292	0.46017	D	0.839416	0.51368	T	0.30274686	0.53149	0.36051515	0.61492	0.30274686	0.53149	0.36051515	0.61492	-3.254	0.13151	T	.	.	0.276	0.50988	B	.	.	4.270304	0.64969	24.8	0.99927254214177563	0.99163	0.96379	0.68851	D	AEFDBCI	0.906866	0.86016	D	0.796286935436447	0.85873	8.708077	0.780320748771311	0.88393	9.565328	0.999999999999997	0.74766	0.0	0.00013	3	0.514364	0.08380	0	0.286618	0.05420	3	0.463824	0.07026	1	.	.	5.46	5.46	0.80021	5.690000	0.67904	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.100000	0.18284	0.0:0.0:1.0:0.0	16.787	0.85440	844	0.36711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	775.98	38	chr5	141945772	.	G	A	775.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.571;DP=836;ExcessHet=0.0000;FS=2.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-9.170e-01;SOR=0.366	GT:AD:DP:GQ:PL	0/1:30,30:60:99:790,0,798	20	0	1	0
chr5	148996600	148996600	T	G	UTR3	SH3TC2	NM_024577:c.*8111A>C	.	.	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	.	1358	136	6	22	0	50	0.15528	.	.	302127	Susceptibility_to_mononeuropathy_of_the_median_nerve,_mild|Charcot-Marie-Tooth_disease_type_4C|not_provided	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596,Orphanet:99949|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160711	4183	26028	rs17109205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2384	0.2386	0.2402	0.2365	0.3530	0.2363	0.2355	0.3482	0.3462	0.3530	0.2313	0.1628	0.2487	0.0267	0.1902	0.2211	0.2089	0.2412	0.2364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	93.58	2	chr5	148996600	.	T	G	93.58	.	AC=4;AF=0.286;AN=14;DP=48;ExcessHet=0.0000;FS=0.000;MLEAC=6;MLEAF=0.429;MQ=60.00;QD=23.40;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	5	2	0	14
chr5	162067985	162067985	A	-	UTR5	GABRG2	NM_001375350:c.-29746del-;NM_001375349:c.-27536del-;NM_001375348:c.-29746del-;NM_001375344:c.-15del-;NM_001375343:c.-15del-;NM_001375342:c.-15del-;NM_001375341:c.-15del-;NM_001375339:c.-15del-;NM_001375340:c.-15del-;NM_198903:c.-15del-;NM_000816:c.-15del-;NM_198904:c.-15del-	.	.	Epilepsy, generalized, with febrile seizures plus, type 3, Autosomal dominant;Febrile seizures, familial, 8, Autosomal dominant	.	0	202	24	0	0	24	0.0560748	.	.	298652	Generalized_epilepsy_with_febrile_seizures_plus|Severe_myoclonic_epilepsy_in_infancy|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208,Orphanet:33069|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3833	0.3806	0.3791	0.3908	0.3132	0.3857	0.3465	0.4014	0.0016136	42	26028	rs780201998	0.1348	0.2306	0.1338	0.1359	0.1919	0.1341	0.1338	0.1867	0.1846	0.1767	0.1919	0.1747	0.1841	0.1705	0.0991	0.1276	0.1490	0.1353	0.0088	0.0103	0.0091	0.0085	0.0280	0.0084	0.0082	0.0266	0.0261	0.0280	0	0.0043	0.0006	0.0002	0.0038	0	0.0008	0.0057	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	83.43	40	chr5	162067984	.	GA	G	83.43	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.680e-01;DP=1392;ExcessHet=0.1072;FS=0.791;InbreedingCoeff=-0.0414;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=0.837;SOR=0.551	GT:AD:DP:GQ:PL	0/1:138,20:163:97:97,0,3248	19	0	2	0
chr6	6174633	6174633	G	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon12:c.C1694T:p.P565L,	Factor XIIIA deficiency, Autosomal recessive	.	4	868	532	118	0	768	0.306709	.	.	252448	not_provided|not_specified|Factor_XIII,_A_subunit,_deficiency_of	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.74	T	0.003	B	0.002	B	0.139	N	1.000	P	-0.55	N	-0.06	T	-1.081	T	0.040	T	0.06	-0.906	0.427	5.78	2.726	2.506	12.334	0.077	.	0.1925	0.240415	0.2160	0.1520	0.0939	0.3199	0.2052	0.2048	0.2313	0.3360	0.209965	32461	154602	rs5982	0.2156	0.2156	0.2117	0.2195	0.3279	0.2149	0.2147	0.3247	0.3234	0.1539	0.1013	0.2210	0.3015	0.2031	0.2525	0.2100	0.2248	0.3279	0.1958	0.1960	0.1933	0.1985	0.3479	0.1940	0.1932	0.3340	0.3284	0.1586	0.2029	0.1354	0.2190	0.3065	0.2133	0.2687	0.2087	0.1957	0.3479	0.729	0.03823	T	0.665	0.06406	T	.	.	.	.	.	.	0.138901	0.18362	N	0.568490	1	0.08975	P	.	.	.	-0.06	0.63568	T	0.31	0.04022	N	0.036	0.01068	-1.0809	0.07175	T	0.040	0.17149	T	9	0.0069898665	0.00159	T	.	.	.	0.077	0.22490	.	.	.	.	0.5783212436962746	0.57761	0.227437257193	0.25295	0.354513347149	0.18584	T	.	.	.	-0.666851	0.00057	T	-0.586841	0.13941	T	0.0120128747694183	0.00189	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.	.	2.677165	0.34918	19.76	0.3814487705666012	0.02555	0.45118	0.27468	N	AEFDGBI	0.423562	0.48910	N	-0.656020314291582	0.17286	0.8881491	-0.481416803574241	0.22666	1.232241	0.982481270091029	0.30405	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	2.576000	0.45698	8.492000	0.77332	0.665000	0.62972	0.643000	0.28111	1.000000	0.68203	0.253000	0.23340	0.0763:0.0:0.9237:0.0	12.334	0.54383	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	28918.26	37	chr6	6174633	.	G	A	28918.26	.	AC=11;AF=0.262;AN=42;BaseQRankSum=2.29;DP=2169;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1378;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=17.37;ReadPosRankSum=0.505;SOR=0.737	GT:AD:DP:GQ:PL	0/1:79,89:168:99:2348,0,1788	12	2	7	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	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.0	B	0.550	N	1.000	P	-0.695	N	-2.06	D	-1.098	T	0.089	T	0.208	-1.563	0.015	1.89	0.212	-0.249	4.197	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7735.88	70	chr6	6318562	.	C	A	7735.88	.	AC=8;AF=0.190;AN=42;BaseQRankSum=1.60;DP=1070;ExcessHet=0.5418;FS=1.099;InbreedingCoeff=0.0735;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=0.596;SOR=0.597	GT:AD:DP:GQ:PL	0/1:62,51:113:99:1251,0,1410	14	1	6	0
chr6	7541915	7541915	-	A	UTR5	DSP	NM_001008844:c.-1_0insA;NM_004415:c.-1_0insA;NM_001319034:c.-1_0insA	.	.	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	.	28	1328	145	21	0	187	0.0657756	.	.	44679	Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|Lethal_acantholytic_epidermolysis_bullosa|Woolly_hair-skin_fragility_syndrome|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy	MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1665	0.199681	0.1994	0.2722	0.2824	0.3023	0.2527	0.1686	0.1623	0.1516	0.0316198	823	26028	rs17133512	0.1455	0.1456	0.1471	0.1439	0.3022	0.1450	0.1448	0.2976	0.2958	0.2224	0.2379	0.1041	0.3022	0.1713	0.0852	0.1355	0.1482	0.1249	0.1726	0.1729	0.1700	0.1752	0.2692	0.1708	0.1701	0.2574	0.2526	0.2146	0.1557	0.2166	0.1092	0.2692	0.1649	0.0925	0.1384	0.1570	0.1274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2339.07	34	chr6	7541915	.	C	CA	2339.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.509;DP=792;ExcessHet=0.1072;FS=2.278;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.59;ReadPosRankSum=1.09;SOR=0.964	GT:AD:DP:GQ:PL	0/1:32,39:71:99:1241,0,980	19	0	2	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	.	5	101	508	907	1	2323	0.919968	.	.	54134	Lethal_acantholytic_epidermolysis_bullosa|Woolly_hair-skin_fragility_syndrome|not_provided|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Keratosis_palmoplantaris_striata_2|DSP-related_disorder|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|Cardiovascular_phenotype|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908|.|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.6429	175804.2	449	chr6	7585734	.	G	C	175804.2	.	AC=27;AF=0.643;AN=42;BaseQRankSum=4.06;DP=8806;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=20.84;ReadPosRankSum=0.224;SOR=0.645	GT:AD:DP:GQ:PL	0/1:246,245:491:99:6450,0,6228	1	7	13	0
chr6	16327685	16327687	TGC	-	exonic	ATXN1	.	nonframeshift deletion	ATXN1:NM_001128164:exon7:c.624_626del:p.Q208del	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	207394	ATXN1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001423	22	154602	rs797045409	0.0424	0.0556	0.0408	0.0441	0.3444	0.0422	0.0420	0.3389	0.3366	0.0367	0.1010	0.0204	0.3444	0.0672	0.0337	0.0262	0.0548	0.1071	0.0694	0.0705	0.0647	0.0744	0.3715	0.0682	0.0677	0.3558	0.3495	0.0558	0.1998	0.1241	0.0327	0.3715	0.0848	0.0426	0.0397	0.0626	0.1442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/2:24,0,12,0,0,0:36:99:830,805,2493,0,1460,1663,490,1993,1025,2290,805,2493,1460,1993,2493,805,2493,1460,1993,2493,2493	9	0	3	0
chr6	26090951	26090951	C	G	exonic	HFE	.	nonsynonymous SNV	HFE:NM_000410:exon2:c.C187G:p.H63D	Hemochromatosis, Autosomal recessive	YES	2	1194	302	24	0	350	0.127831	.	.	15049	Hereditary_hemochromatosis|Hemochromatosis_type_1|not_provided|Cardiomyopathy|Bronze_diabetes|See_cases|Variegate_porphyria|Microvascular_complications_of_diabetes,_susceptibility_to,_7|Alzheimer_disease|Familial_porphyria_cutanea_tarda|Transferrin_serum_level_quantitative_trait_locus_2|Cystic_fibrosis|not_specified	MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:139498,Orphanet:465508|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C0018995|.|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:0008296,MedGen:C0268323,OMIM:176100,Orphanet:101330,Orphanet:443062|MedGen:C3280096,OMIM:614193|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic/Pathogenic,_low_penetrance|other	.	.	.	.	.	.	.	.	0	D	0.991	D	0.883	P	0.347	N	1.000	P	1.89	L	5.87	T	0.103	D	0.631	D	0.62	1.939	12.44	3.51	0.785	0.952	6.685	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	1	1	1	0	0	0	0	0	0	0	0	1	0	0.07143	5313.68	36	chr6	26090951	.	C	G	5313.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.058;DP=1052;ExcessHet=0.3300;FS=3.213;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.063;SOR=0.744	GT:AD:DP:GQ:PL	0/1:65,62:127:99:1545,0,1626	18	0	3	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	Peroxisome_biogenesis_disorder|Peroxisome_biogenesis_disorder_1A_(Zellweger)|PEX6_POLYMORPHISM|not_specified|not_provided	MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|.|MedGen:CN169374|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	4501.24	9	chr6	42963889	.	GTTTA	G	4501.24	.	AC=23;AF=0.548;AN=42;BaseQRankSum=-6.160e-01;DP=196;ExcessHet=0.0777;FS=3.019;InbreedingCoeff=0.2387;MLEAC=24;MLEAF=0.571;MQ=59.96;MQRankSum=0.00;QD=31.92;ReadPosRankSum=-1.440e+00;SOR=1.090	GT:AD:DP:GQ:PL	0/1:2,4:6:72:162,0,72	6	8	7	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,21,0:63:99:0|1:80007990_G_C:515,0,1641,641,1704,2345:80007990	1	0	9	7
chr6	80007992	80007992	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G323C:p.S108T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.986	D	0.852	P	0.000	D	0.593	D	1.955	M	-2.63	D	0.046	D	0.635	D	0.39	3.677	18.69	3.86	0.842	5.340	8.738	0.403	0.0853925880234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1707	0.2059	0.1863	0.1558	0.2162	0.1701	0.1698	0.2154	0.2150	0.1392	0.0055	0.0504	0.0230	0.0017	0.0737	0.2162	0.1283	0.0500	0	3.307e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.144	0.59732	T	0.966	0.56202	D	0.631	0.51788	P	0.000000	0.84330	D	0.071194	0.593197	0.32474	D	2.595	0.75868	M	-2.63	0.90083	D	-1.03	0.49187	N	0.442	0.48042	0.046	0.83166	D	0.635	0.87219	D	10	0.3497452	0.51861	T	0.085393	0.74523	D	0.403	0.71636	0.228	0.15406	0.781371246216	0.77935	0.3376395449906995	0.33676	0.281122348813	0.30588	0.551896691322	0.46125	T	0.092565	0.57262	T	0.136052	0.67947	D	-0.0423466	0.67543	D	0.917783379554749	0.57577	D	0.631037	0.24617	T	0.7190072	0.79106	0.41570723	0.65677	0.7190072	0.79108	0.41570723	0.65677	-6.628	0.51765	T	.	.	0.218	0.44758	B	.;.;.;.;.;.	.;.;.;.;.;.	4.204753	0.63475	24.6	0.99575890361854102	0.72682	0.97332	0.74083	D	AEFBI	0.519272	0.54462	D	0.42824476472478	0.62980	4.523298	0.423839017229321	0.63052	4.531729	0.99999023762309	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	3.86	0.43689	5.209000	0.65041	8.593000	0.77695	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1406:0.1265:0.7329:0.0	8.738	0.33699	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,21,5:62:99:.:.:660,0,1593,614,678,1208	2	0	13	4
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.818	P	0.000	D	0.844	D	1.61	L	1.42	T	0.418	D	0.623	D	0.661	4.331	22.8	5.66	2.285	5.664	9.438	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:41,0,21,0:62:99:0|1:80007990_G_C:523,646,2308,0,1662,1599,646,2308,1662,2308:80007990	1	0	7	8
chr6	123548625	123548627	AAA	-	intronic	TRDN	.	.	.	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	.	402	432	251	308	129	996	0.500867	.	.	298899	not_provided|Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0759	0.1271	0.0471	0.0123	0.0159	0.0826	0.0694	0.0650	0.0027278	71	26028	rs762964151	0.0523	0.0759	0.0521	0.0526	0.1248	0.0519	0.0518	0.1208	0.1191	0.1248	0.0530	0.0891	0.0041	0.0612	0.0599	0.0514	0.0575	0.0356	0.0352	0.0357	0.0355	0.0349	0.0711	0.0344	0.0340	0.0690	0.0681	0.0711	0.0279	0.0338	0.0349	0	0.0165	0.0331	0.0209	0.0335	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	8792.76	13	chr6	123548624	.	TAAA	TAAAA,TA,T	8792.76	.	AC=4,22,2;AF=0.095,0.524,0.048;AN=42;BaseQRankSum=1.10;DP=624;ExcessHet=0.4640;FS=0.510;InbreedingCoeff=0.1491;MLEAC=3,22,2;MLEAF=0.071,0.524,0.048;MQ=60.00;MQRankSum=0.00;QD=24.91;ReadPosRankSum=-2.170e-01;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:6,0,6,2:14:98:.:.:201,192,404,0,207,178,98,328,153,330	3	0	1	0
chr6	129401308	129401308	C	A	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon38:c.C5530A:p.R1844S	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	98875	Polymicrogyria|Merosin_deficient_congenital_muscular_dystrophy|Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency|not_specified|not_provided|LAMA2-related_muscular_dystrophy	Human_Phenotype_Ontology:HP:0002126,MONDO:MONDO:0000087,MedGen:C0266464,Orphanet:35981|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|MedGen:C1842898|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100228,MedGen:C5679788	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.75	T	0.085	B	0.059	B	0.157	N	0.974	N	0.695	N	1.97	T	-0.960	T	0.011	T	0.194	0.595	7.208	4.4	1.312	1.080	8.784	0.035	.	0.0127	0.00499201	0.0107	0.0029	0.0045	0	0.0053	0.0171	0.0044	0.0024	0.0113582	1756	154602	rs56173620	0.0160	0.0161	0.0163	0.0157	0.0196	0.0158	0.0158	0.0194	0.0193	0.0023	0.0057	0.0002	0	0.0058	0.0040	0.0196	0.0106	0.0035	0.0100	0.0100	0.0108	0.0092	0.0175	0.0096	0.0094	0.0167	0.0163	0.0029	0.0011	0.0087	0	0	0.0042	0	0.0175	0.0109	0.0027	0.729	0.03823	T	.	.	.	0.085	0.24868	B	0.059	0.26602	B	0.157316	0.17773	N	0.586969	0.974306	0.25499	N	1.735	0.44892	L	1.97	0.22067	T	0.71	0.02130	N	0.208	0.23125	-0.9596	0.39255	T	0.011	0.04134	T	10	0.0045015514	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.19583303369857513	0.19500	0.112650752227	0.12719	0.232069522142	0.02125	T	0.010706	0.20226	T	-0.57614	0.00203	T	-0.584766	0.14122	T	0.00623717862066411	0.00069	T	0.80082	0.44648	T	0.1340339	0.31155	0.09311903	0.21980	0.09115291	0.21350	0.095608905	0.22683	-3.659	0.18715	T	0.1050088532866892	0.08276	0.113	0.22245	B	.;.;.	.;.;.	2.701577	0.35291	19.86	0.97481028826259253	0.34188	0.14561	0.18467	N	AEFBI	0.123743	0.23948	N	-0.538583828729514	0.20843	1.101825	-0.404151049036538	0.24875	1.364656	9.70201157838309E-4	0.08067	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.28	4.4	0.52402	0.873000	0.27702	5.952000	0.51667	0.599000	0.40250	0.010000	0.18352	0.813000	0.27056	0.950000	0.49671	0.3635:0.442:0.1945:0.0	8.784	0.33968	884	0.28482	Laminin alpha, domain I;Laminin alpha, domain I;Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1397.98	39	chr6	129401308	.	C	A	1397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.000e-03;DP=905;ExcessHet=0.0000;FS=1.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=0.966;SOR=0.865	GT:AD:DP:GQ:PL	0/1:56,59:115:99:1412,0,1303	20	0	1	0
chr6	131847857	131847860	GTGT	-	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	64	102	8	11	41	71	0.128205	.	.	306033	Hypophosphatemic_Rickets,_Recessive|not_specified|not_provided|Arterial_calcification,_generalized,_of_infancy,_1	MedGen:CN239452|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs373838049	0.0474	0.0578	0.0472	0.0476	0.1058	0.0471	0.0469	0.1024	0.1009	0.1058	0.0777	0.0304	0.0231	0.0959	0.0366	0.0445	0.0483	0.0343	0.0671	0.0670	0.0676	0.0665	0.1205	0.0659	0.0654	0.1175	0.1162	0.1205	0.0594	0.0647	0.0210	0.0188	0.0760	0.0654	0.0467	0.0560	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	4955.76	13	chr6	131847856	.	GGTGT	GGT,GGTGTGT,GGTGTGTGT,G,GTTGTGTGT,*	4955.76	.	AC=7,5,1,4,1,1;AF=0.167,0.119,0.024,0.095,0.024,0.024;AN=42;BaseQRankSum=0.318;DP=762;ExcessHet=2.1081;FS=0.398;InbreedingCoeff=-0.0365;MLEAC=7,5,1,4,1,1;MLEAF=0.167,0.119,0.024,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.97;ReadPosRankSum=0.189;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:5,0,0,17,0,0,0:22:94:.:.:632,647,791,647,791,791,0,145,145,94,647,791,791,145,791,647,791,791,145,791,791,647,791,791,145,791,791,791	6	0	4	0
chr6	152391580	152391580	-	AAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299476	Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0692	0.0572	0.0446	0.1472	0.0524	0.0572	0.0842	0.1106	0.0001921	5	26028	rs768125041	0.1080	0.1249	0.1087	0.1074	0.2456	0.1075	0.1073	0.2409	0.2389	0.0980	0.0497	0.0906	0.2456	0.0967	0.0955	0.1050	0.1115	0.1270	0.1623	0.1700	0.1628	0.1618	0.3566	0.1604	0.1596	0.3411	0.3349	0.1644	0.1811	0.1235	0.1686	0.3566	0.1421	0.1619	0.1554	0.1614	0.1968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7308.95	24	chr6	152391580	.	G	GA,GAAAAAA,GAAAAAAA,GAAAAA,GAAAA	7308.95	.	AC=1,8,7,3,3;AF=0.024,0.190,0.167,0.071,0.071;AN=42;BaseQRankSum=0.622;DP=985;ExcessHet=0.0204;FS=0.530;InbreedingCoeff=0.3977;MLEAC=1,8,6,3,3;MLEAF=0.024,0.190,0.143,0.071,0.071;MQ=60.00;MQRankSum=0.00;QD=19.44;ReadPosRankSum=-5.940e-01;SOR=0.657	GT:AD:DP:GQ:PL	3/5:0,0,3,7,2,5:17:49:672,460,410,224,212,169,206,168,77,163,293,275,127,49,235,335,271,69,0,186,286	7	0	0	0
chr6	152391580	152391580	-	AAAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	306417	not_specified|Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0448	0.0344	0.0254	0.0783	0.0226	0.0343	0.0734	0.0880	0.0001537	4	26028	rs768125041	0.1086	0.1266	0.1084	0.1088	0.2137	0.1081	0.1079	0.2093	0.2075	0.0746	0.0628	0.0804	0.2137	0.0676	0.1152	0.1067	0.1079	0.1495	0.1938	0.2020	0.1976	0.1896	0.3497	0.1918	0.1909	0.3343	0.3281	0.1441	0.1000	0.1623	0.2110	0.3497	0.0922	0.2573	0.2180	0.2055	0.2643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7308.95	24	chr6	152391580	.	G	GA,GAAAAAA,GAAAAAAA,GAAAAA,GAAAA	7308.95	.	AC=1,8,7,3,3;AF=0.024,0.190,0.167,0.071,0.071;AN=42;BaseQRankSum=0.622;DP=985;ExcessHet=0.0204;FS=0.530;InbreedingCoeff=0.3977;MLEAC=1,8,6,3,3;MLEAF=0.024,0.190,0.143,0.071,0.071;MQ=60.00;MQRankSum=0.00;QD=19.44;ReadPosRankSum=-5.940e-01;SOR=0.657	GT:AD:DP:GQ:PL	3/5:0,0,3,7,2,5:17:49:672,460,410,224,212,169,206,168,77,163,293,275,127,49,235,335,271,69,0,186,286	7	0	0	0
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A	.	.	426	313	516	267	0	1050	0.626492	.	.	29790	SUPEROXIDE_DISMUTASE_2_POLYMORPHISM|Microvascular_complications_of_diabetes,_susceptibility_to,_6	.|MONDO:MONDO:0012970,MedGen:C2675128,OMIM:612634	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.73	T	0.024	B	0.014	B	0.003	N	0.812	P	.	.	2.8	T	-0.931	T	0.008	T	0.209	1.174	9.777	3.08	0.205	2.565	9.062	0.048	.	0.4731	0.410743	0.5024	0.4521	0.6492	0.1596	0.5033	0.5162	0.4902	0.5375	0.0001153	3	26028	rs4880	0.4921	0.4920	0.4930	0.4912	0.6131	0.4912	0.4908	0.6070	0.6045	0.4286	0.6131	0.5060	0.1309	0.4807	0.4419	0.5013	0.4763	0.5191	0.4704	0.4704	0.4750	0.4656	0.5368	0.4675	0.4663	0.5271	0.5231	0.4245	0.4901	0.5368	0.5193	0.1435	0.4668	0.4658	0.5033	0.4693	0.5118	0.926	0.09806	T	0.979	0.20680	T	0.024	0.19075	B	0.014	0.16862	B	0.003125	0.35389	N	0.321860	1	0.28987	P	.	.	.	2.8	0.17923	T	0.35	0.06138	N	0.034	0.02964	-0.9308	0.44021	T	0.008	0.02679	T	8	3.9671322e-05	0.00008	T	.	.	.	0.048	0.13305	.	.	.	.	0.24148455001478597	0.24062	0.559626915364	0.52497	0.639073014259	0.58432	T	0.006216	0.10632	T	-0.680986	0.00047	T	-0.607145	0.12218	T	0.00926767202390716	0.00118	T	0.00962761	0.00101	T	0.019719824	0.00509	0.04335931	0.05377	0.019719824	0.00508	0.04335931	0.05376	-2.567	0.10127	T	.	.	0.065	0.07412	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.792224	0.11628	8.214	0.81617120455707348	0.13775	0.13403	0.17836	N	ALL	0.032084	0.03557	N	-0.854084909372284	0.11949	0.5796162	-0.812104859326894	0.14202	0.7408959	0.999999999993235	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.08	0.34576	2.202000	0.42377	4.081000	0.41738	-0.176000	0.10722	0.649000	0.28163	0.999000	0.35428	0.111000	0.18785	0.1374:0.121:0.7416:0.0	9.062	0.35603	725	0.54935	.;.;.;.;.;.;.;.	RP3-393E18.2|MRPL18|RP3-393E18.2|WTAP|MRPL18|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|MRPL18|PNLDC1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2|ACAT2|MRPL18|MRPL18|RP3-393E18.2|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|MRPL18|SOD2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|ACAT2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|RP3-393E18.2|HNRNPH1P1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Brain_Hippocampus|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood	SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|MRPL18	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis	rs4880	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.4524	18083.6	58	chr6	159692840	.	A	G	18083.6	.	AC=19;AF=0.452;AN=42;BaseQRankSum=1.17;DP=1182;ExcessHet=2.1081;FS=0.000;InbreedingCoeff=-0.0572;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=19.59;ReadPosRankSum=0.348;SOR=0.714	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2552,222,0	6	4	11	0
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	136006	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0538	0.0989	0.0432	0.0847	0.0282	0.0395	0.0472	0.0948	0.0001537	4	26028	rs112083427	0.2067	0.2951	0.1908	0.2228	0.4566	0.2057	0.2053	0.4473	0.4435	0.2151	0.4566	0.3745	0.4431	0.4300	0.2950	0.1554	0.2683	0.3748	0.2313	0.2572	0.2287	0.2342	0.3402	0.2291	0.2282	0.3316	0.3280	0.1263	0.1041	0.3402	0.2648	0.2368	0.3166	0.3025	0.2555	0.2464	0.2883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,104:104:99:1|1:170561949_GCAA_G:4251,3538,3386,312,311,0:170561949	1	1	3	2
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	5	243	697	577	0	1851	0.792041	.	.	195811	Primary_ciliary_dyskinesia_7|not_provided|DNAH11-related_disorder	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	81624.22	113	chr7	21867834	.	G	GT	81624.22	.	AC=33;AF=0.786;AN=42;BaseQRankSum=0.110;DP=2420;ExcessHet=4.7172;FS=0.684;InbreedingCoeff=-0.2727;MLEAC=33;MLEAF=0.786;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=0.921;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,68:112:99:0|1:21867834_G_GT:2703,0,1633:21867834	0	12	9	0
chr7	30633897	30633898	AA	-	UTR3	GARS1	NM_001316772:c.*37_*38delAA;NM_002047:c.*37_*38delAA	.	.	.	.	338	128	20	2	1034	1058	0.0857143	.	.	311092	Distal_spinal_muscular_atrophy|Peripheral_axonal_neuropathy|not_provided|Charcot-Marie-Tooth_disease_type_2	MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1458	0.1444	0.1211	0.1934	0.0825	0.1342	0.1377	0.1975	0.001921	50	26028	rs1264036389	0.1231	0.1309	0.1212	0.1251	0.1942	0.1226	0.1224	0.1901	0.1884	0.1278	0.0990	0.1304	0.1942	0.0985	0.1716	0.1165	0.1342	0.1800	0.1053	0.1040	0.1039	0.1069	0.2053	0.1039	0.1033	0.1943	0.1899	0.1248	0.0146	0.0971	0.0960	0.1870	0.0699	0.1181	0.0886	0.1355	0.2053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	10366.48	21	chr7	30633896	.	TAA	T,TA	10366.48	.	AC=12,18;AF=0.300,0.450;AN=40;BaseQRankSum=-5.890e-01;DP=815;ExcessHet=3.2961;FS=0.722;InbreedingCoeff=-0.2573;MLEAC=12,18;MLEAF=0.300,0.450;MQ=60.00;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.194;SOR=0.739	GT:AD:DP:GQ:PL	0/1:10,12,0:27:99:353,0,369,416,335,754	0	1	3	1
chr7	80663133	80663133	G	A	exonic	CD36	.	synonymous SNV	CD36:NM_001371080:exon3:c.G108A:p.P36P	Platelet glycoprotein IV deficiency, Autosomal recessive	.	0	1497	24	0	1	25	0.00795229	.	.	898429	not_provided|Platelet-type_bleeding_disorder_10	MedGen:C3661900|MONDO:MONDO:0012031,MedGen:C1842090,OMIM:608404	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0190	0.00878594	0.0191	0.0049	0.0055	0	0.0554	0.0263	0.0187	0.0039	0.0189972	2937	154602	rs5956	0.0245	0.0246	0.0250	0.0240	0.0278	0.0243	0.0242	0.0276	0.0275	0.0035	0.0054	0.0088	5.049e-05	0.0528	0.0043	0.0278	0.0179	0.0040	0.0186	0.0186	0.0182	0.0191	0.0281	0.0181	0.0178	0.0270	0.0266	0.0047	0.0165	0.0066	0.0075	0	0.0519	0	0.0281	0.0109	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.04762	2228.11	33	chr7	80663133	.	G	A	2228.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.18;DP=847;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=1.26;SOR=0.683	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1031,0,1184	19	0	2	0
chr7	92499848	92499849	AA	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	6	11	58	125	26	334	0.933333	.	.	191766	Zellweger_spectrum_disorders|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1286	0.0604	0.1169	0.0878	0.0643	0.1272	0.1007	0.2324	0.0003458	9	26028	rs769875811	0.0771	0.1651	0.0762	0.0779	0.1028	0.0766	0.0764	0.1005	0.0995	0.0376	0.0805	0.0777	0.0503	0.0821	0.0547	0.0775	0.0760	0.1028	0.0033	0.0055	0.0035	0.0031	0.0048	0.0031	0.0030	0.0043	0.0042	0.0012	0	0.0035	0.0006	0.0002	0.0065	0	0.0048	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	22564.18	63	chr7	92499847	.	CAA	C,CA	22564.18	.	AC=1,34;AF=0.024,0.810;AN=42;BaseQRankSum=-6.040e-01;DP=1349;ExcessHet=0.2785;FS=0.000;InbreedingCoeff=0.1429;MLEAC=1,34;MLEAF=0.024,0.810;MQ=60.00;MQRankSum=0.00;QD=22.30;ReadPosRankSum=-1.160e-01;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,47:47:99:.:.:1296,1296,1296,141,141,0	1	0	0	0
chr7	103989357	103989359	GCC	-	UTR5	RELN	NM_173054:c.-1_-3delGGC;NM_005045:c.-1_-3delGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	301371	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs886061864	0.0017	0.0062	0.0017	0.0017	0.0071	0.0016	0.0016	0.0062	0.0058	0.0047	0.0071	0.0034	0.0030	0.0013	0.0015	0.0013	0.0026	0.0027	0.0016	0.0016	0.0015	0.0017	0.0040	0.0014	0.0014	0.0026	0.0025	0.0031	0	0.0022	0	0.0040	0.0003	0.0036	0.0006	0.0034	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	39463.68	54	chr7	103989356	.	TGCC	TGCCGCCGCC,T,TGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCC	39463.68	.	AC=26,1,4,1,2;AF=0.619,0.024,0.095,0.024,0.048;AN=42;BaseQRankSum=-4.950e-01;DP=1873;ExcessHet=3.5521;FS=0.662;InbreedingCoeff=-0.2353;MLEAC=25,1,4,1,2;MLEAF=0.595,0.024,0.095,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=33.19;ReadPosRankSum=-4.170e-01;SOR=0.759	GT:AD:DP:GQ:PL	1/1:1,53,0,0,0,0:54:99:1625,149,0,1630,159,1639,1630,159,1639,1639,1630,159,1639,1639,1639,1630,159,1639,1639,1639,1639	0	9	5	0
chr7	107696048	107696048	C	T	intronic	SLC26A4	.	.	.	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	.	1	1512	9	0	0	9	0.00296736	.	.	174162	not_specified|not_provided|Pendred_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00219649	0.0020	9.61e-05	0.0003	0	0	0.0004	0.0011	0.0129	0.00174	269	154602	rs368970459	0.0012	0.0011	0.0007	0.0016	0.0132	0.0011	0.0011	0.0126	0.0123	0.0002	0.0002	7.955e-05	5.143e-05	0.0002	0.0028	0.0003	0.0013	0.0132	0.0006	0.0006	0.0004	0.0008	0.0125	0.0005	0.0005	0.0099	0.0090	7.227e-05	0	0.0005	0	0	0	0	0.0003	0.0024	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	877.98	33	chr7	107696048	.	C	T	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=785;ExcessHet=0.0000;FS=2.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.017;SOR=1.042	GT:AD:DP:GQ:PL	0/1:37,36:73:99:892,0,820	20	0	1	0
chr7	114663436	114663436	-	T	intronic	FOXP2	.	.	.	Speech-language disorder-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177727	Inborn_genetic_diseases|not_specified|Childhood_apraxia_of_speech	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	7359.72	33	chr7	114663436	.	A	AT	7359.72	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.700e-02;DP=979;ExcessHet=0.0097;FS=0.561;InbreedingCoeff=0.4750;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=-3.520e-01;SOR=0.771	GT:AD:DP:GQ:PL	1/1:3,65:68:99:1724,119,0	14	3	4	0
chr7	124851918	124851918	C	A	exonic	POT1	.	nonsynonymous SNV	POT1:NM_001042594:exon10:c.G510T:p.Q170H	.	.	440	1081	1	0	0	1	0.000462321	.	.	457104	not_specified|not_provided|POT1-related_disorder|Tumor_predisposition_syndrome_3|Hereditary_cancer-predisposing_syndrome	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0014368,MedGen:C4014476,OMIM:615848,Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.973	D	0.77	P	0.118	N	1.000	N	2.125	M	0.82	T	-0.883	T	0.143	T	0.398	3.367	17.35	-0.749	-0.371	-0.153	9.597	0.136	0.0144066373101	0.0029	0.00159744	0.0026	0.0011	0.0013	0.0001	0.0041	0.0036	0.0023	0.0015	0.0027296	422	154602	rs116916706	0.0050	0.0050	0.0051	0.0049	0.0059	0.0049	0.0049	0.0057	0.0057	0.0009	0.0012	7.665e-05	0	0.0037	0.0002	0.0059	0.0054	0.0021	0.0030	0.0030	0.0032	0.0028	0.0047	0.0028	0.0027	0.0043	0.0041	0.0014	0	0.0014	0	0.0004	0.0035	0	0.0047	0.0038	0.0014	0.143	0.25355	T	0.057	0.46406	T	0.973	0.57599	D	0.77	0.56828	P	0.117501	0.19151	N	0.560758	0.999997	0.08975	N	2.65	0.77586	M	0.82	0.48142	T	-1.39	0.43149	N	0.229	0.33250	-0.8829	0.49529	T	0.143	0.46532	T	10	0.0039791167	0.00077	T	0.014407	0.34508	T	0.136	0.36778	0.252	0.19067	0.595301672115	0.59208	0.5165991918110379	0.51582	0.237661895385	0.26305	0.326851516962	0.14459	T	0.21509	0.57686	T	-0.460536	0.00976	T	-0.431276	0.29791	T	0.0174436964394395	0.00481	T	0.606339	0.22814	T	0.03864433	0.05189	0.040631518	0.04436	0.041615646	0.06161	0.048539113	0.07229	-4.019	0.24087	T	0.1863759991736207	0.24255	0.126	0.26700	B	.;.	.;.	1.062284	0.14442	11.01	0.98493922337933948	0.42132	0.11385	0.16599	N	AEFBI	0.074043	0.14829	N	-0.578567553959384	0.19596	1.026869	-0.783961302408964	0.14888	0.7802644	6.56076162446506E-5	0.04366	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.44	-0.749	0.10525	-0.073000	0.11428	-1.233000	0.05954	-0.930000	0.02149	0.009000	0.18154	0.000000	0.08366	0.725000	0.34934	0.0:0.563:0.0:0.437	9.597	0.38745	749	0.51929	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	796.98	34	chr7	124851918	.	C	A	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.010;DP=737;ExcessHet=0.0000;FS=0.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-6.270e-01;SOR=0.941	GT:AD:DP:GQ:PL	0/1:26,34:60:99:811,0,570	20	0	1	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P,	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	.	2	82	476	962	0	2400	0.936037	.	.	135324	not_specified|Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.0	B	.	.	1.000	P	1.15	L	-3.2	D	-0.966	T	0.000	T	0.052	-0.251	2.795	-3.35	-1.287	-1.288	2.721	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.7619	57575.44	141	chr7	127611134	.	T	G	57575.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=0.218;DP=2509;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=23.77;ReadPosRankSum=0.240;SOR=0.702	GT:AD:DP:GQ:PL	0/1:77,61:138:99:1527,0,2104	1	12	8	0
chr7	142749524	142749524	C	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon1:c.C40G:p.L14V,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1184	338	0	0	338	0.124908	0	0.172	933718	not_provided|Hereditary_pancreatitis	MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.090	N	0.999	N	0.305	N	-3.18	D	-0.656	T	0.520	D	0.084	-2.546	0.003	2.43	0.685	1.840	11.878	0.221	.	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs747228052	0.0163	0.0916	0.0159	0.0166	0.0302	0.0161	0.0160	0.0284	0.0277	0.0302	0.0266	0.0367	0.0149	0.0869	0.0146	0.0136	0.0244	0.0024	0.3494	0.3861	0.3542	0.3444	0.4130	0.3464	0.3452	0.4068	0.4042	0.4130	0.3354	0.3561	0.3511	0.1063	0.3526	0.2554	0.3440	0.3432	0.1690	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.089679	0.20415	N	0.498441	0.999154	0.21565	N	-0.055	0.04927	N	-3.18	0.93111	D	1.4	0.00835	N	0.1	0.09631	-0.6563	0.62439	T	0.520	0.82091	D	10	0.09526378	0.17002	T	0.081841	0.73770	D	0.221	0.51721	.	.	0.74833783201	0.74606	0.6303402522407332	0.62968	0.16419798022	0.18528	0.351473480463	0.18139	T	0.18894	0.54300	T	-0.0866624	0.38626	T	-0.362261	0.37790	T	0.0625269785523415	0.07561	T	.	.	.	0.03509291	0.04065	0.09660669	0.22962	0.03509291	0.04065	0.09660669	0.22961	-3.639	0.18422	T	.	.	0.061	0.01042	B	.;.;.	.;.;.	0.943023	0.13190	9.689	0.10035292204727132	0.00117	0.01979	0.05984	N	AEFDBI	0.044097	0.07052	N	-0.973998565507978	0.09162	0.4324695	-0.844955323986839	0.13408	0.6954354	0.00552028722970171	0.10963	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.32	2.43	0.28797	2.003000	0.40464	.	.	-0.319000	0.05888	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.1794:0.8206:0.0	11.878	0.51835	776	0.48302	.;.;.	.	.	.	.	.	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	0.2619	6566.3	235	chr7	142749524	.	C	G	6566.3	.	AC=11;AF=0.262;AN=42;BaseQRankSum=4.38;DP=4162;ExcessHet=7.7275;FS=14.002;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=58.17;MQRankSum=-1.853e+01;QD=1.81;ReadPosRankSum=-3.398e+00;SOR=2.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:352,29:381:99:0|1:142749506_A_G:158,0,14684:142749506	10	0	11	0
chr7	142750561	142750561	C	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.C47T:p.A16V,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	YES	0	788	734	0	0	734	0.317749	.	.	46925	Recurrent_pancreatitis|Hereditary_pancreatitis|not_provided	Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.002	B	0.019	N	0.986	N	0.825	L	-3.17	D	-0.577	T	0.542	D	0.671	0.269	5.455	0.989	0.076	0.750	7.043	0.524	.	.	.	0.0160	0.0479	0.0047	0.0021	0.0128	0.0164	0.0210	0.0113	0.0135833	2100	154602	rs202003805	0.2021	0.3260	0.1994	0.2049	0.3871	0.2013	0.2010	0.3798	0.3768	0.3871	0.3293	0.2961	0.1035	0.3682	0.1866	0.1904	0.2197	0.1188	0.3862	0.4088	0.3910	0.3812	0.4582	0.3832	0.3820	0.4521	0.4495	0.4582	0.3653	0.3885	0.3815	0.1497	0.3882	0.3266	0.3733	0.3802	0.2128	0.566	0.06502	T	0.351	0.19721	T	0.0	0.02946	B	0.002	0.06944	B	0.018559	0.27457	N	0.446479	0.985655	0.24690	N	0.625	0.15840	N	-3.17	0.93054	D	-0.01	0.07155	N	0.072	0.08366	-0.5774	0.65720	T	0.542	0.83122	D	10	0.0054525733	0.00120	T	.	.	.	0.524	0.79825	.	.	.	.	0.5690087331218414	0.56828	0.162344706958	0.18315	0.232086211443	0.02126	T	0.208591	0.56856	T	0.119743	0.66346	D	-0.0657736	0.65926	T	0.0260900631546974	0.01419	T	.	.	.	0.016501123	0.00202	0.035258744	0.02744	0.015689086	0.00152	0.033967946	0.02380	-4.735	0.33824	T	.	.	0.128	0.27373	B	.;.;.	.;.;.	0.257558	0.06365	2.827	0.30547631428140182	0.01676	0.01640	0.05278	N	AEFDBI	0.139100	0.26059	N	-1.28146295350348	0.03898	0.1749983	-1.30565312385982	0.04356	0.2053128	0.136983366606344	0.17200	0.549168	0.22868	0	0.627178	0.54094	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	3.49	0.989	0.18920	0.485000	0.22033	.	.	-1.601000	0.00893	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2125:0.0:0.7875	7.043	0.24210	776	0.48302	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.3571	22149.38	121	chr7	142750561	.	C	T	22149.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.697e+00;DP=2539;ExcessHet=17.4423;FS=2.788;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=56.74;MQRankSum=-9.685e+00;QD=9.67;ReadPosRankSum=-3.250e-01;SOR=0.501	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:135,36:171:99:.:.:1046,0,3588	6	0	15	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	.	.	.	.	.	.	.	.	0.09	T	.	.	.	.	0.017	N	1.000	A	.	.	.	.	.	.	.	.	.	2.152	13.15	2.59	0.757	0.450	12.188	.	.	.	.	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.3333	11579.59	103	chr7	142750680	.	C	T	11579.59	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.980e-01;DP=2593;ExcessHet=14.4320;FS=1.494;InbreedingCoeff=-0.5074;MLEAC=14;MLEAF=0.333;MQ=58.14;MQRankSum=-1.043e+01;QD=5.26;ReadPosRankSum=-1.991e+00;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:145,23:170:99:.:.:517,0,6134	7	0	14	0
chr7	142750700	142750700	C	T	exonic	PRSS1	.	synonymous SNV	PRSS1:NM_002769:exon2:c.C186T:p.G62G,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1392	130	0	0	130	0.0446122	.	.	1838992	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0277	0.0571	0.0080	0.0036	0.04	0.0237	0.0368	0.0486	0.0001552	24	154602	rs199713773	0.0059	0.0919	0.0046	0.0071	0.0117	0.0057	0.0057	0.0106	0.0101	0.0117	0.0076	0.0095	0.0040	0.0184	0.0041	0.0054	0.0091	0.0016	0.1047	0.2848	0.1054	0.1040	0.1897	0.1027	0.1019	0.1841	0.1818	0.1897	0.0930	0.1003	0.0786	0.0135	0.1257	0.0417	0.0817	0.0946	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.2619	5354.16	84	chr7	142750700	.	C	T	5354.16	.	AC=11;AF=0.262;AN=42;BaseQRankSum=0.656;DP=1892;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3489;MLEAC=11;MLEAF=0.262;MQ=58.03;MQRankSum=-1.138e+01;QD=3.65;ReadPosRankSum=-2.976e+00;SOR=0.770	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,15:145:99:0|1:142750691_A_G:218,0,5322:142750691	10	0	11	0
chr7	154053047	154053047	A	T	exonic	DPP6	.	nonsynonymous SNV	DPP6:NM_001290253: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	.	.	.	.	.	.	.	.	0.32	T	0.119	B	0.041	B	0.000	N	1.000	D	.	.	0.92	T	-1.107	T	0.086	T	0.373	0.281	5.521	1.98	0.253	1.673	8.763	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	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.04762	368.11	24	chr7	154053047	.	A	T	368.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.21;DP=651;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.83;ReadPosRankSum=0.527;SOR=0.700	GT:AD:DP:GQ:PL	0/1:12,5:17:73:73,0,310	19	0	2	0
chr8	10610127	10610127	T	C	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.A3971G:p.E1324G,	Occult macular dystrophy, Autosomal dominant	.	2	62	35	14	113	176	0.336898	.	.	312269	not_specified|Occult_macular_dystrophy|Retinitis_pigmentosa_88|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	.	.	1.000	P	0	N	2.94	T	-0.960	T	0.013	T	0.028	0.469	6.544	-1.85	-0.966	1.133	7.767	0.034	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs4240659	0.1222	0.1328	0.1202	0.1242	0.3291	0.1216	0.1214	0.3238	0.3216	0.1195	0.1370	0.1586	0.3291	0.0992	0.1560	0.1126	0.1374	0.1283	0.1626	0.1710	0.1669	0.1580	0.3056	0.1607	0.1599	0.2926	0.2873	0.1751	0.1340	0.1808	0.1843	0.3056	0.0901	0.2045	0.1541	0.1677	0.1281	0.127	0.27080	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	0.55	0.14455	N	2.94	0.09728	T	-1.26	0.31778	N	0.059	0.03069	-0.9596	0.39255	T	0.013	0.05081	T	8	0.0013740659	0.00015	T	.	.	.	0.034	0.08419	.	.	0.0551355673512	0.04727	0.09043956122950329	0.08976	.	.	0.193922996521	0.00302	T	0.036747	0.24220	T	-0.429672	0.01489	T	-0.85497	0.00899	T	0.0430045104408474	0.04238	T	0.292471	0.05369	T	0.03615358	0.04393	0.05939324	0.11139	0.03615358	0.04393	0.05939324	0.11139	-7.353	0.56572	T	.	.	0.069	0.03093	B	.	.	-0.075415	0.03791	0.799	0.55067947662932093	0.05266	0.02637	0.07234	N	AEFDBI	0.022755	0.01177	N	-1.76511400421318	0.00636	0.02744097	-1.81737224775769	0.00705	0.03140268	1.68491044415924E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.91	-1.85	0.07363	-0.294000	0.08346	-1.859000	0.04598	-2.048000	0.00420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1404:0.0:0.8596	7.767	0.28151	794	0.45591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	157707.19	230	chr8	10610127	.	T	C,TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	157707.19	.	AC=9,14;AF=0.214,0.333;AN=42;BaseQRankSum=-1.191e+00;DP=7662;ExcessHet=5.5923;FS=0.530;InbreedingCoeff=-0.2494;MLEAC=9,14;MLEAF=0.214,0.333;MQ=59.74;MQRankSum=-2.640e-01;QD=29.56;ReadPosRankSum=-2.810e-01;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,358,0:358:99:1|1:10610117_T_C:15791,1077,0,15791,1077,15791:10610117	3	1	5	0
chr8	10610127	10610127	-	CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.E1324_G2392delinsGTKVIEGLQEERVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*,	Occult macular dystrophy, Autosomal dominant	.	2	62	35	14	113	176	0.336898	.	.	490785	Occult_macular_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019748	514	26028	rs369606728	0.3003	0.2931	0.3009	0.2996	0.3367	0.2994	0.2990	0.3356	0.3352	0.0668	0.1268	0.2984	0.0016	0.2804	0.2689	0.3367	0.2875	0.1937	0.2690	0.2723	0.2800	0.2574	0.3823	0.2665	0.2655	0.3781	0.3764	0.1017	0.3651	0.1960	0.3263	0.0039	0.2681	0.3259	0.3823	0.2752	0.1849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	157707.19	230	chr8	10610127	.	T	C,TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	157707.19	.	AC=9,14;AF=0.214,0.333;AN=42;BaseQRankSum=-1.191e+00;DP=7662;ExcessHet=5.5923;FS=0.530;InbreedingCoeff=-0.2494;MLEAC=9,14;MLEAF=0.214,0.333;MQ=59.74;MQRankSum=-2.640e-01;QD=29.56;ReadPosRankSum=-2.810e-01;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,358,0:358:99:1|1:10610117_T_C:15791,1077,0,15791,1077,15791:10610117	3	1	5	0
chr8	132480670	132480670	-	C	UTR5	KCNQ3	NM_004519:c.-139_-138insG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	.	75	142	3	2	4	11	0.024055	.	.	313038	Benign_neonatal_seizures|not_provided|Benign_Neonatal_Epilepsy	MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900|MedGen:C0270851	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs879019805	0.0992	0.0754	0.0988	0.0996	0.1176	0.0985	0.0982	0.1020	0.0992	0.0987	0.0472	0.0809	0.0113	0.0962	0.1176	0.1002	0.0951	0.1026	0.0916	0.0897	0.0944	0.0887	0.1035	0.0902	0.0896	0.1013	0.1004	0.0952	0.0571	0.0558	0.0762	0.0041	0.0991	0.1106	0.1035	0.0927	0.0911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2331.15	20	chr8	132480670	.	A	AC,ACC	2331.15	.	AC=7,8;AF=0.167,0.190;AN=42;BaseQRankSum=0.059;DP=417;ExcessHet=0.8717;FS=11.366;InbreedingCoeff=0.1346;MLEAC=7,8;MLEAF=0.167,0.190;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-5.200e-02;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,3,0:10:37:.:.:37,0,170,58,179,237	9	0	7	0
chr8	132480670	132480670	-	CC	UTR5	KCNQ3	NM_004519:c.-139_-138insGG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	.	75	142	3	2	4	11	0.024055	.	.	307908	Benign_Neonatal_Epilepsy|Benign_neonatal_seizures|not_provided	MedGen:C0270851|MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008068	21	26028	rs879019805	0.1321	0.1013	0.1313	0.1330	0.1680	0.1314	0.1311	0.1626	0.1604	0.1407	0.1001	0.1405	0.0618	0.1292	0.1494	0.1314	0.1335	0.1680	0.1700	0.1748	0.1676	0.1725	0.2214	0.1680	0.1672	0.2089	0.2038	0.1562	0.0893	0.1840	0.2043	0.0990	0.1830	0.2250	0.1740	0.1618	0.2214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2331.15	20	chr8	132480670	.	A	AC,ACC	2331.15	.	AC=7,8;AF=0.167,0.190;AN=42;BaseQRankSum=0.059;DP=417;ExcessHet=0.8717;FS=11.366;InbreedingCoeff=0.1346;MLEAC=7,8;MLEAF=0.167,0.190;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-5.200e-02;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,3,0:10:37:.:.:37,0,170,58,179,237	9	0	7	0
chr8	143920488	143920488	C	T	exonic	PLEC	.	synonymous SNV	PLEC:NM_201378:exon32:c.G9291A:p.G3097G	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	0	1506	16	0	0	16	0.00528402	.	.	193984	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_with_nail_dystrophy|not_provided	MedGen:CN169374|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00239617	0.0025	0.0006	0.0010	0.0002	0.0035	0.0027	0.0025	0.0044	0.0022315	345	154602	rs188739870	0.0020	0.0020	0.0020	0.0021	0.0048	0.0020	0.0019	0.0044	0.0043	0.0003	0.0011	0	5.051e-05	0.0020	0.0009	0.0021	0.0016	0.0048	0.0013	0.0013	0.0013	0.0014	0.0052	0.0012	0.0011	0.0036	0.0031	0.0004	0	0.0011	0	0.0002	0.0014	0	0.0018	0.0019	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	2787.98	112	chr8	143920488	.	C	T	2787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.920e-01;DP=2111;ExcessHet=0.0000;FS=1.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=1.15;SOR=0.806	GT:AD:DP:GQ:PL	0/1:98,113:211:99:2802,0,2428	20	0	1	0
chr9	2622147	2622155	CGGCGGCGG	-	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	134	297	245	137	709	1228	0.466307	.	.	274730	not_specified|not_provided|Congenital_cerebellar_hypoplasia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3265	0.30631	0.1908	0.1477	0.2045	0.25	0.125	0.2247	0.2105	0.1797	0.0002717	42	154602	rs369552432	0.3801	0.3475	0.3852	0.3748	0.4136	0.3792	0.3788	0.4075	0.4050	0.1944	0.3970	0.2985	0.4136	0.3827	0.2810	0.3964	0.3561	0.2349	0.3293	0.3297	0.3288	0.3298	0.4202	0.3269	0.3259	0.4055	0.4020	0.1981	0.1914	0.4141	0.2980	0.4202	0.3595	0.3483	0.3884	0.3335	0.2385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	30379.9	49	chr9	2622146	.	ACGGCGGCGG	ACGGCGGCGGCGG,A	30379.9	.	AC=17,12;AF=0.405,0.286;AN=42;BaseQRankSum=0.034;DP=1277;ExcessHet=1.3217;FS=0.563;InbreedingCoeff=-0.0027;MLEAC=17,12;MLEAF=0.405,0.286;MQ=60.00;MQRankSum=0.00;QD=28.77;ReadPosRankSum=0.770;SOR=0.643	GT:AD:DP:GQ:PL	0/2:45,0,21:66:99:747,882,2772,0,1890,1826	2	5	5	0
chr9	14784400	14784400	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon24:c.G4412A:p.S1471N	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	215396	Trigonocephaly_2|Oculotrichoanal_syndrome|BNAR_syndrome|not_specified|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0013774,MedGen:C3280974,OMIM:614485,Orphanet:3366|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MONDO:MONDO:0012165,MedGen:C2750433,OMIM:608980,Orphanet:217266|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.34	T	0.001	B	0.004	B	0.000	D	1.000	N	1.085	L	0.59	T	-1.033	T	0.114	T	0.016	0.349	5.892	5.53	2.758	2.993	11.387	0.100	0.00874680397119	0.0005	.	0.0003	0	0.0002	0	0	0.0004	0.0011	6.083e-05	0.0002199	34	154602	rs200650442	0.0002	0.0002	0.0002	0.0003	0.0113	0.0002	0.0002	0.0091	0.0083	8.962e-05	0.0002	0.0041	0	0	0.0113	9.895e-05	0.0010	0.0002	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0001	7.896e-05	0.0002	0	0.0003	0.0037	0	0	0	0.0002	0.0009	0	0.457	0.08813	T	0.861	0.03399	T	0.001	0.07471	B	0.004	0.10090	B	0.000178	0.48594	D	0.267804	0.919978	0.27316	N	2.005	0.54552	M	0.59	0.53943	T	-0.8	0.22078	N	0.221	0.32259	-1.0328	0.19554	T	0.114	0.40627	T	10	0.010758162	0.00238	T	0.008747	0.23099	T	0.100	0.28662	.	.	0.40146981186	0.39757	0.23616923367470719	0.23531	.	.	0.338232666254	0.16173	T	0.19352	0.54902	T	-0.482848	0.00712	T	-0.639205	0.09727	T	0.0248557894728998	0.01253	T	0.519848	0.16911	T	0.09641775	0.22709	0.10371094	0.24891	0.09641775	0.22709	0.10371094	0.24890	-5.646	0.43210	T	0.13696930988507727	0.15028	0.093	0.14979	B	.;.	.;.	1.271380	0.16702	12.71	0.38938383314295522	0.02657	0.60756	0.31287	D	AEFBHCI	0.321532	0.42430	N	-0.147996598848341	0.35321	2.027234	0.0249293538298909	0.40875	2.446496	0.99885196250801	0.37823	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	3.020000	0.49326	4.907000	0.45915	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.1311:0.726:0.1429:0.0	11.387	0.49032	780	0.47616	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1652.98	40	chr9	14784400	.	C	T	1652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.066;DP=818;ExcessHet=0.0000;FS=2.367;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=-8.340e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/1:59,66:125:99:1667,0,1419	20	0	1	0
chr9	34646576	34646579	CAGT	-	upstream	GALT	dist=10	.	.	Galactosemia, Autosomal recessive	.	25	1347	134	16	0	166	0.058042	.	.	36445	Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|Classical_galactosemia,_homozygous_Duarte-type|Inborn_genetic_diseases|not_specified|not_provided	MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|MedGen:C0268152|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0417332	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs111033640	0.0603	0.0594	0.0596	0.0610	0.0758	0.0599	0.0598	0.0742	0.0735	0.0111	0.0491	0.0510	0.0064	0.0679	0.0472	0.0636	0.0570	0.0758	0.0470	0.0471	0.0472	0.0468	0.0689	0.0461	0.0458	0.0629	0.0622	0.0124	0.1615	0.0491	0.0481	0.0093	0.0672	0.0408	0.0645	0.0445	0.0689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2344.97	19	chr9	34646575	.	CCAGT	C	2344.97	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.870e-01;DP=526;ExcessHet=0.1217;FS=2.119;InbreedingCoeff=0.2221;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=21.32;ReadPosRankSum=0.661;SOR=1.081	GT:AD:DP:GQ:PL	0/1:14,16:30:99:610,0,539	16	1	4	0
chr9	34649445	34649445	A	G	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon8:c.A613G:p.N205D	Galactosemia, Autosomal recessive	YES	0	1107	372	43	0	458	0.171407	.	.	18652	GALT-related_disorder|Galactosemia|not_provided|GALT_POLYMORPHISM_(DUARTE,_D2)|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase	.|Human_Phenotype_Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352|MedGen:C3661900|.|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.024	N	1.000	N	-0.855	N	-5.41	D	-0.345	T	0.089	T	0.357	0.357	5.939	4.4	1.256	1.578	7.829	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	1	1	1	0	0	0	0	0	0	0	0	1	0	0.1905	9063.88	35	chr9	34649445	.	A	G	9063.88	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-1.310e-01;DP=1240;ExcessHet=0.5418;FS=0.523;InbreedingCoeff=0.0735;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.307;SOR=0.754	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1207,0,1287	14	1	6	0
chr9	37782130	37782130	T	C	exonic	EXOSC3	.	nonsynonymous SNV	EXOSC3:NM_016042:exon3:c.A482G:p.D161G,	Pontocerebellar hypoplasia, type 1B, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1666690	Pontocerebellar_hypoplasia_type_1B	MONDO:MONDO:0013853,MedGen:C3553449,OMIM:614678,Orphanet:2254	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.975	D	0.000	D	1.000	D	3.11	M	-2.1	D	0.825	D	0.812	D	0.981	4.623	25.3	5.49	2.207	8.029	13.836	0.917	0.222076511813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.016	0.60972	D	1.0	0.90584	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.135	0.88152	M	-2.1	0.86146	D	-5.7	0.87380	D	0.971	0.98167	0.825	0.94719	D	0.812	0.93676	D	10	0.91090506	0.90455	D	0.222077	0.87837	D	0.917	0.97852	0.694	0.83126	0.924815045053	0.92404	0.820757248253165	0.82032	0.683597874997	0.60172	0.748694419861	0.74254	T	0.378836	0.74172	T	0.443885	0.92201	D	0.399834	0.92104	D	0.997352804602829	0.91359	D	0.90021	0.65300	D	0.8783517	0.89531	0.784656	0.87314	0.8783517	0.89533	0.784656	0.87315	-11.763	0.83677	D	0.9629505689674748	0.98791	0.992	0.94308	P	.	.	5.467460	0.91233	32	0.99851946131486902	0.93102	0.99729	0.99021	D	AEFBI	0.927382	0.90994	D	0.903394704860887	0.91925	11.13809	0.847956997502576	0.92895	11.69804	0.999999999993161	0.74766	0.67177	0.52595	0	0.662677	0.63036	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.49	5.49	0.81022	8.007000	0.88101	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.836	0.62903	568	0.70638	Rrp40, S1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	160.03	41	chr9	37782130	.	T	C	160.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.332e+00;DP=1172;ExcessHet=0.0000;FS=82.129;InbreedingCoeff=-0.0278;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.63;ReadPosRankSum=2.26;SOR=8.485	GT:AD:DP:GQ:PL	0/1:210,45:255:99:174,0,4873	20	0	1	0
chr9	99154098	99154098	-	T	UTR3	TGFBR1	NM_001306210:c.*4793_*4794insT;NM_004612:c.*4793_*4794insT;NM_001130916:c.*4793_*4794insT	.	.	Loeys-Dietz syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	319762	not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Loeys-Dietz_syndrome_1|Loeys-Dietz_syndrome	MedGen:CN517202|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0012212,MedGen:C4551955,OMIM:609192,Orphanet:60030,Orphanet:97295|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs561572489	0.0273	0.0065	0.0261	0.0287	0.0375	0.0262	0.0257	0.0317	0.0296	0.0375	0.0332	0.0275	0.0110	0	0.0206	0.0296	0.0308	0.0193	0.0169	0.0168	0.0169	0.0168	0.0248	0.0163	0.0161	0.0235	0.0230	0.0248	0.0187	0.0138	0.0149	0.0014	0.0144	0.0141	0.0151	0.0176	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	701.94	42	chr9	99154098	.	A	AT	701.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=953;ExcessHet=0.0000;FS=1.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.36;ReadPosRankSum=2.18;SOR=0.518	GT:AD:DP:GQ:PL	0/1:39,36:79:99:716,0,877	20	0	1	0
chr9	104837095	104837095	A	G	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon11:c.T1196C:p.V399A,	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	2	1507	13	0	0	13	0.00429468	0.0211	0.148	316093	Hypoalphalipoproteinemia,_primary,_1|Tangier_disease|Cardiovascular_phenotype|not_specified|not_provided	MONDO:MONDO:0011393,MedGen:C5231558,OMIM:604091,Orphanet:425|MONDO:MONDO:0008783,MedGen:C0039292,OMIM:205400,Orphanet:31150|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.109	B	0.071	B	0.000	D	1.000	D	0.995	L	-1.83	D	-0.504	T	0.325	T	0.76	0.752	7.986	5.7	2.170	8.910	15.966	0.506	0.030297797865	0.0038	0.00199681	0.0035	0.0009	0.0033	0	0.0008	0.0053	0	0.0014	0.0035381	547	154602	rs9282543	0.0046	0.0046	0.0047	0.0045	0.0062	0.0045	0.0045	0.0051	0.0051	0.0008	0.0028	0.0129	0	0.0007	0.0062	0.0052	0.0049	0.0012	0.0035	0.0035	0.0038	0.0033	0.0057	0.0033	0.0032	0.0053	0.0051	0.0011	0	0.0021	0.0136	0	0.0008	0.0102	0.0057	0.0047	0.0006	0.911	0.02361	T	1.0	0.01155	T	0.109	0.26142	B	0.071	0.27960	B	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	1.02	0.25474	L	-1.83	0.84122	D	0.2	0.04861	N	0.885	0.88356	-0.5038	0.68512	T	0.325	0.69324	T	10	0.018427223	0.00401	T	0.030298	0.52638	D	0.506	0.78724	.	.	0.88467983427	0.88354	0.8064539770788843	0.80600	0.313848368464	0.33672	0.6139716506	0.54876	T	0.240071	0.60832	T	-0.125284	0.32262	T	0.0487669	0.73503	D	0.0243171223685156	0.01184	T	0.873013	0.58094	D	0.45237097	0.64191	0.2620861	0.51996	0.45237097	0.64192	0.2620861	0.51995	-3.825	0.21178	T	0.20332149171123126	0.27067	0.544	0.66532	A	.	.	3.967966	0.58246	24.0	0.61862214878713151	0.06816	0.98774	0.86679	D	AEFBI	0.923586	0.90029	D	-0.0379467295626377	0.40143	2.378968	0.183708304341091	0.48956	3.104641	0.999999956855704	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.669	0.65921	0	.	.	5.7	5.7	0.88690	7.145000	0.76950	11.215000	0.89546	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	15.966	0.79764	937	0.14592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1906.98	33	chr9	104837095	.	A	G	1906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.078;DP=826;ExcessHet=0.0000;FS=4.878;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.44;ReadPosRankSum=0.951;SOR=1.238	GT:AD:DP:GQ:PL	0/1:47,69:116:99:1921,0,1190	20	0	1	0
chr9	105639182	105639182	A	G	UTR3	FKTN	NM_006731:c.*3918A>G;NM_001351502:c.*3918A>G;NM_001079802:c.*3918A>G;NM_001351497:c.*3918A>G;NM_001351498:c.*4096A>G;NM_001351501:c.*3918A>G;NM_001351496:c.*3918A>G;NM_001351499:c.*3918A>G;NM_001351500:c.*3918A>G	.	.	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	310566	not_provided|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4|Dilated_cardiomyopathy_1X	MedGen:C3661900|MONDO:MONDO:0009678,MedGen:C0410174,OMIM:253800,Orphanet:272,Orphanet:588,Orphanet:899|MONDO:MONDO:0012704,MedGen:C1969024,OMIM:611615,Orphanet:154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0005304	82	154602	rs17316607	0.0024	0.0014	0.0023	0.0025	0.0253	0.0023	0.0022	0.0192	0.0170	0.0007	0.0020	0.0080	0	0	0.0253	0.0022	0.0037	0.0059	0.0019	0.0019	0.0021	0.0017	0.0064	0.0018	0.0017	0.0046	0.0040	0.0005	0	0.0014	0.0075	0.0002	9.411e-05	0.0170	0.0027	0.0038	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	45.92	41	chr9	105639182	.	A	G	45.92	.	AC=2;AF=0.200;AN=10;DP=41;ExcessHet=0.0000;FS=0.000;MLEAC=4;MLEAF=0.400;MQ=60.00;QD=22.96;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	16
chr9	131513305	131513305	C	T	exonic	POMT1	.	synonymous SNV	POMT1:NM_001353200:exon9:c.C693T:p.H231H	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, Autosomal recessive	.	1	1505	16	0	0	16	0.00528751	.	.	265520	Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B1|Walker-Warburg_congenital_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2K|not_specified|POMT1-related_disorder|not_provided	MONDO:MONDO:0013159,MedGen:C5436962,OMIM:613155|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MONDO:MONDO:0012248,MedGen:C1836373,OMIM:609308,Orphanet:86812|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0007	0	0.0003	0.0001	0	0.0002	0.0012	0.0036	0.0005433	84	154602	rs202121299	0.0004	0.0004	0.0003	0.0005	0.0036	0.0004	0.0004	0.0033	0.0032	0.0001	0.0003	0	0.0001	0	0.0009	0.0002	0.0005	0.0036	0.0002	0.0002	0.0002	0.0003	0.0033	0.0002	0.0001	0.0021	0.0017	4.818e-05	0	0.0001	0	0	0	0	0.0002	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	1756.98	39	chr9	131513305	.	C	T	1756.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.33;DP=855;ExcessHet=0.0000;FS=3.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=0.225;SOR=0.473	GT:AD:DP:GQ:PL	0/1:65,69:134:99:1771,0,1343	20	0	1	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	.	1	295	703	523	0	1749	0.747755	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.5476	33750.98	102	chr9	133569476	.	A	G	33750.98	.	AC=23;AF=0.548;AN=42;BaseQRankSum=1.00;DP=1946;ExcessHet=0.5442;FS=0.563;InbreedingCoeff=0.1350;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=19.53;ReadPosRankSum=0.324;SOR=0.714	GT:AD:DP:GQ:PL	1/1:0,101:101:99:3108,303,0	5	7	9	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	.	1265	97	26	134	0	294	0.602459	.	.	322826	not_provided|Hypoparathyroidism,_deafness,_renal_disease_syndrome	MedGen:CN517202|MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	4713.46	6	chr10	8074278	.	G	GA	4713.46	.	AC=33;AF=0.786;AN=42;BaseQRankSum=-3.280e-01;DP=254;ExcessHet=0.0874;FS=7.524;InbreedingCoeff=0.1699;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=24.05;ReadPosRankSum=-3.170e-01;SOR=0.181	GT:AD:DP:GQ:PL	1/1:0,4:4:12:113,12,0	2	14	5	0
chr10	43114671	43114671	G	A	exonic	RET	.	nonsynonymous SNV	RET:NM_001355216:exon8:c.G1309A:p.G437S	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|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided|Multiple_endocrine_neoplasia_type_2A|Multiple_endocrine_neoplasia,_type_2|Renal_hypodysplasia/aplasia_1|Multiple_endocrine_neoplasia_type_2B|Hirschsprung_disease,_susceptibility_to,_1|Pheochromocytoma	MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:247698,Orphanet:653|MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709|MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:247709,Orphanet:653|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.79	T	0.103	B	0.016	B	0.004	N	1.000	P	0.345	N	-1.05	T	-1.097	T	0.000	T	0.104	0.870	8.525	-1.08	-0.060	4.395	9.258	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.1905	14725.9	33	chr10	43114671	.	G	A	14725.9	.	AC=8;AF=0.190;AN=42;BaseQRankSum=1.69;DP=1584;ExcessHet=3.5521;FS=0.537;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.376;SOR=0.768	GT:AD:DP:GQ:PL	0/1:66,80:146:99:1972,0,1414	13	0	8	0
chr10	71785055	71785055	C	T	exonic	CDH23	.	synonymous SNV	CDH23:NM_022124:exon41:c.C5667T:p.N1889N,	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	YES	.	.	.	.	.	.	.	.	.	271255	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.000199681	0.0002	0.0019	0	0	0	0	0	6.057e-05	0.0001358	21	154602	rs375358318	5.952e-05	5.951e-05	6.671e-05	5.226e-05	0.0019	4.883e-05	4.562e-05	0.0015	0.0013	0.0019	6.708e-05	0	0	0	0	1.259e-05	0.0001	1.159e-05	0.0006	0.0006	0.0007	0.0006	0.0023	0.0005	0.0005	0.0019	0.0018	0.0023	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	2425.98	37	chr10	71785055	.	C	T	2425.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.837e+00;DP=952;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=0.849;SOR=0.410	GT:AD:DP:GQ:PL	0/1:95,100:195:99:2440,0,2466	20	0	1	0
chr10	84199091	84199091	C	T	exonic	CDHR1	.	synonymous SNV	CDHR1:NM_001171971:exon5:c.C408T:p.I136I	Cone-rod dystrophy 15, Autosomal recessive;Retinitis pigmentosa 65, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	322846	Cone-Rod_Dystrophy,_Recessive|not_provided	MedGen:CN239309|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.000998403	0.0010	0.0007	0	0	0	0.0022	0	0	0.0005045	78	154602	rs148125234	0.0023	0.0022	0.0024	0.0023	0.0028	0.0023	0.0022	0.0027	0.0027	0.0005	0.0004	0.0026	0	0.0005	0.0015	0.0028	0.0017	0.0002	0.0012	0.0012	0.0015	0.0008	0.0022	0.0010	0.0010	0.0020	0.0018	0.0003	0	0.0003	0.0017	0	0.0003	0.0034	0.0022	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	720.98	35	chr10	84199091	.	C	T	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-1.003e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/1:35,28:63:99:735,0,825	20	0	1	0
chr10	87863959	87863959	G	A	exonic	PTEN	.	nonsynonymous SNV	PTEN:NM_001304717:exon1:c.G10A:p.G4R,	Bannayan-Riley-Ruvalcaba syndrome, Autosomal dominant;Cowden syndrome 1, Autosomal dominant;Endometrial carcinoma, somatic;Lhermitte-Duclos syndrome, Autosomal dominant;Macrocephaly/autism syndrome, Autosomal dominant;Malignant melanoma, somatic;PTEN hamartoma tumor syndrome (3);Squamous cell carcinoma, head and neck, somatic;VATER association with macrocephaly and ventriculomegaly, Autosomal recessive	.	327	1088	90	17	0	124	0.053913	.	.	799618	Myeloproliferative_neoplasm,_unclassifiable|PTEN-related_disorder|not_specified|not_provided|PTEN_hamartoma_tumor_syndrome	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0017623,MeSH:D006223,MedGen:C1959582,Orphanet:306498	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160343	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs12573787	0.1537	0.0877	0.1559	0.1517	0.3493	0.1524	0.1518	0.3428	0.3401	0.0618	0.2127	0.1122	0.3493	0.1133	0.0794	0.1350	0.1541	0.1302	0.1262	0.1263	0.1257	0.1267	0.3487	0.1247	0.1241	0.3351	0.3296	0.0615	0.0592	0.1934	0.1206	0.3487	0.1086	0.1268	0.1375	0.1377	0.1243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.1667	3146.53	16	chr10	87863959	.	G	A	3146.53	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.01;DP=549;ExcessHet=0.2785;FS=2.303;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=59.88;MQRankSum=0.00;QD=14.17;ReadPosRankSum=0.597;SOR=0.791	GT:AD:DP:GQ:PL	0/1:9,21:30:99:501,0,211	15	1	5	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	323868	not_specified|not_provided|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy	MedGen:CN169374|MedGen:C3661900|.|MedGen:CN239310|MedGen:CN230736|Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33249.08	59	chr10	90918983	.	AATAAATAAATATATATATATATAT	AATATAT,*,A	33249.08	.	AC=26,3,2;AF=0.619,0.071,0.048;AN=42;BaseQRankSum=0.327;DP=952;ExcessHet=0.0338;FS=8.387;InbreedingCoeff=0.3293;MLEAC=27,3,2;MLEAF=0.643,0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=29.53;ReadPosRankSum=1.87;SOR=0.104	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,47,0,0:48:99:1|1:90918983_AATAAATAAATATATATAT_A:2060,107,0,2063,144,2099,2063,144,2099,2099:90918983	3	10	5	0
chr10	95606622	95606622	G	A	UTR3	ALDH18A1	NM_001323417:c.*140C>T;NM_001323416:c.*140C>T;NM_001323412:c.*140C>T;NM_001017423:c.*140C>T;NM_002860:c.*140C>T;NM_001323419:c.*140C>T;NM_001323418:c.*140C>T;NM_001323415:c.*140C>T;NM_001323414:c.*140C>T;NM_001323413:c.*140C>T	.	.	Cutis laxa, autosomal dominant 3, Autosomal dominant;Cutis laxa, autosomal recessive, type IIIA, Autosomal recessive, Isolated cases;Spastic paraplegia 9A, autosomal dominant, Autosomal dominant;Spastic paraplegia 9B, autosomal recessive, Autosomal recessive	.	347	1168	5	2	0	9	0.00383795	.	.	324061	Hereditary_spastic_paraplegia|ALDH18A1-related_de_Barsy_syndrome	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0009053,MedGen:C5234852,OMIM:219150,Orphanet:2962,Orphanet:35664	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048123	.	.	.	.	.	.	.	.	0.0026972	417	154602	rs76824727	0.0054	0.0054	0.0055	0.0052	0.1498	0.0053	0.0052	0.1466	0.1453	0.0006	0.0076	0.0002	0.1498	0.0002	0.0005	0.0002	0.0123	0.0065	0.0079	0.0079	0.0069	0.0089	0.1877	0.0075	0.0074	0.1779	0.1739	0.0009	0	0.0065	0.0003	0.1877	9.416e-05	0	0.0004	0.0057	0.0112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	263.02	19	chr10	95606622	.	G	A	263.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.14;DP=251;ExcessHet=0.0000;FS=7.830;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.79;ReadPosRankSum=0.944;SOR=3.407	GT:AD:DP:GQ:PL	0/1:6,8:14:99:277,0,123	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	17071.38	42	chr10	123053169	.	AT	A	17071.38	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-3.790e-01;DP=1002;ExcessHet=0.2785;FS=0.910;InbreedingCoeff=0.1451;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=23.74;ReadPosRankSum=0.164;SOR=0.579	GT:AD:DP:GQ:PL	0/1:14,19:33:99:430,0,276	1	15	5	0
chr11	822389	822389	C	T	intronic	PNPLA2	.	.	.	Neutral lipid storage disease with myopathy, Autosomal recessive	.	0	1503	18	1	0	20	0.00660939	0	0.012	254342	not_specified|not_provided|Neutral_lipid_storage_myopathy	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012545,MedGen:C1853136,OMIM:610717,Orphanet:98908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.000798722	0.0010	0.0005	0.0020	0	0.0002	0.0013	0	0.0002	0.0008603	133	154602	rs201418203	0.0006	0.0006	0.0006	0.0007	0.0128	0.0006	0.0006	0.0105	0.0096	0.0006	0.0011	0.0049	0	0	0.0128	0.0005	0.0009	0.0003	0.0005	0.0005	0.0006	0.0005	0.0006	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0005	0.0043	0	0	0.0068	0.0006	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	814.98	34	chr11	822389	.	C	T	814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=778;ExcessHet=0.0000;FS=2.113;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=0.458;SOR=0.420	GT:AD:DP:GQ:PL	0/1:44,32:76:99:829,0,1226	20	0	1	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	.	21	72	439	990	0	2419	0.943816	.	.	326978	Type_1_diabetes_mellitus_2|Maturity-onset_diabetes_of_the_young_type_10|Diabetes_mellitus,_permanent_neonatal_4|Autosomal_recessive_DOPA_responsive_dystonia|Transient_Neonatal_Diabetes,_Dominant/Recessive|Hyperproinsulinemia|Diabetes_mellitus_type_1|Maturity_onset_diabetes_mellitus_in_young|not_provided	MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MedGen:CN239353|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	P	.	.	-4.58	D	-0.893	T	0.000	T	0.193	-0.854	0.541	-3.76	-2.608	0.411	2.503	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	78587.44	179	chr11	2159830	.	T	G	78587.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=0.199;DP=3573;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=22.65;ReadPosRankSum=0.179;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,80:160:99:.:.:1870,0,1870	1	12	8	0
chr11	2161163	2161163	-	GCAA	UTR5	INS	NM_001185098:c.-193_-192insTTGC;NM_001185097:c.-193_-192insTTGC;NM_001291897:c.-193_-192insTTGC	.	.	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	.	148	1369	4	1	0	6	0.00218659	.	.	326982	Maturity-onset_diabetes_of_the_young_type_10|Autosomal_recessive_DOPA_responsive_dystonia|Transient_Neonatal_Diabetes,_Dominant/Recessive|Maturity_onset_diabetes_mellitus_in_young|not_provided	MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MedGen:CN239353|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0706869	.	.	.	.	.	.	.	.	0.0046104	120	26028	rs3842740	0.0083	0.0068	0.0093	0.0073	0.2289	0.0081	0.0080	0.2224	0.2197	0.2289	0.0198	0.0046	0	0	0.0145	0.0011	0.0190	0.0007	0.0676	0.0679	0.0695	0.0657	0.2306	0.0665	0.0661	0.2267	0.2251	0.2306	0	0.0329	0.0055	0.0002	0	0.0238	0.0013	0.0501	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	310.1	3	chr11	2161163	.	C	CGCAA	310.1	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.700e-01;DP=205;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0353;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=25.84;ReadPosRankSum=0.325;SOR=0.446	GT:AD:DP:GQ:PL	0/1:4,8:12:99:324,0,144	20	0	1	0
chr11	5254939	5254939	G	A	upstream	HBG2	dist=158	.	.	Cyanosis, transient neonatal, Autosomal dominant;Fetal hemoglobin quantitative trait locus 1, Autosomal dominant	.	611	857	47	7	0	61	0.0343662	.	.	30023	not_specified|Hereditary_persistence_of_fetal_hemoglobin|not_provided	MedGen:CN169374|MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0479484	1248	26028	rs1060499525	0.2183	0.1733	0.2171	0.2194	0.2475	0.2171	0.2166	0.2459	0.2452	0.1238	0.1610	0.1566	0.1167	0.1910	0.1586	0.2475	0.2074	0.2141	0.2071	0.2107	0.2105	0.2035	0.2630	0.2051	0.2043	0.2598	0.2584	0.1428	0.2024	0.1805	0.1739	0.1099	0.1876	0.1837	0.2630	0.2108	0.2288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	1723.79	5	chr11	5254939	.	G	A	1723.79	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.190e-01;DP=326;ExcessHet=7.7275;FS=5.625;InbreedingCoeff=-0.3663;MLEAC=11;MLEAF=0.262;MQ=54.87;MQRankSum=0.00;QD=7.18;ReadPosRankSum=-3.700e-01;SOR=0.437	GT:AD:DP:GQ:PL	0/1:8,2:10:54:54,0,256	10	0	11	0
chr11	17386478	17386478	A	G	UTR3	KCNJ11	NM_001166290:c.*441T>C;NM_000525:c.*441T>C;NM_001377297:c.*441T>C;NM_001377296:c.*441T>C	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	.	1026	376	50	70	0	190	0.201699	.	.	326654	Maturity-onset_diabetes_of_the_young_type_13|not_provided|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2|Type_2_diabetes_mellitus	MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|MedGen:C3661900|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46885	.	.	.	.	.	.	.	.	0.0682527	10552	154602	rs2285676	0.3367	0.1870	0.3337	0.3395	0.5065	0.3296	0.3267	0.4534	0.4328	0.5065	0.3326	0.2651	0.4716	0.2585	0.3667	0.3227	0.3371	0.2928	0.4342	0.4345	0.4324	0.4362	0.5705	0.4315	0.4303	0.5645	0.5619	0.5705	0.3062	0.3914	0.3000	0.5583	0.3666	0.4048	0.3763	0.4028	0.3654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	738.48	2	chr11	17386478	.	A	G	738.48	.	AC=7;AF=0.206;AN=34;BaseQRankSum=1.38;DP=110;ExcessHet=0.0154;FS=3.594;InbreedingCoeff=0.1777;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-1.560e-01;SOR=0.563	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	12	2	3	4
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	.	9	194	657	662	0	1981	0.836218	.	.	319487	Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735823	.	.	.	.	.	.	.	.	0.02213	576	26028	rs5213	0.6509	0.6490	0.6528	0.6489	0.9329	0.6497	0.6492	0.9237	0.9199	0.9329	0.6277	0.6666	0.6333	0.5278	0.7238	0.6500	0.6663	0.6293	0.7178	0.7178	0.7241	0.7113	0.9199	0.7143	0.7128	0.9122	0.9090	0.9199	0.5746	0.6767	0.6737	0.6457	0.5344	0.7041	0.6490	0.6958	0.6272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	25022.16	47	chr11	17386857	.	C	T	25022.16	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.185;DP=1241;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=23.00;ReadPosRankSum=-2.670e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:33,28:61:99:720,0,801	3	9	9	0
chr11	17386938	17386938	G	C	exonic	KCNJ11	.	nonsynonymous SNV	KCNJ11:NM_000525:exon1:c.C1154G:p.S385C	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	.	0	1468	52	2	0	56	0.0187166	.	.	45093	Neonatal_diabetes_mellitus|not_provided|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2|Monogenic_diabetes|Maturity-onset_diabetes_of_the_young_type_13|not_specified|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224|MedGen:C3661900|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.38	B	0.308	B	0.608	N	0.615	D	1.67	L	-2.25	D	0.183	D	0.417	T	0.259	2.088	12.94	5.17	2.398	3.469	14.127	0.369	.	0.0102	0.0109824	0.0050	0.0231	0.0028	0	0	0.0034	0.0154	0.0055	0.004683	724	154602	rs41282930	0.0033	0.0034	0.0033	0.0034	0.0253	0.0033	0.0032	0.0239	0.0234	0.0253	0.0038	0.0101	0.0001	0.0002	0.0245	0.0024	0.0059	0.0055	0.0094	0.0095	0.0097	0.0091	0.0246	0.0090	0.0089	0.0233	0.0228	0.0246	0	0.0085	0.0118	0.0002	0.0003	0.0340	0.0028	0.0133	0.0033	0.002	0.72154	D	0.009	0.66756	D	.	.	.	.	.	.	0.607718	0.10897	N	0.819694	0.614702	0.32652	D	.	.	.	-2.37	0.88220	D	-1.7	0.40468	N	0.174	0.18649	0.183	0.85615	D	0.417	0.76367	T	10	0.005117476	0.00111	T	.	.	.	0.369	0.68844	.	.	0.958566052307	0.95812	0.4760188451649058	0.47520	0.812429226841	0.66793	0.495120823383	0.38149	T	.	.	.	-0.300228	0.08639	T	-0.18578	0.55983	T	0.0173762586484723	0.00475	T	0.715628	0.32820	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.09385	B	.;.	.;.	3.729829	0.53349	23.4	0.97812369977749791	0.36136	0.46035	0.27671	N	AEFDGBHCI	0.289475	0.40111	N	0.241689725135397	0.53230	3.492802	0.337379174047973	0.57750	3.94205	0.999999999991511	0.74766	0.696267	0.57585	0	0.703908	0.78521	0	0.691665	0.62940	0	0.691587	0.68394	0	.	.	5.17	5.17	0.70848	3.069000	0.49724	7.525000	0.59824	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.1495:0.8505:0.0	14.127	0.64762	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2027.11	83	chr11	17386938	.	G	C	2027.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.114;DP=1324;ExcessHet=0.1072;FS=2.566;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=0.655;SOR=0.504	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1450,0,1548	19	0	2	0
chr11	17387284	17387284	G	C	exonic	KCNJ11	.	nonsynonymous SNV	KCNJ11:NM_000525:exon1:c.C808G:p.L270V	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	YES	0	1417	101	4	0	109	0.037037	.	.	168866	Monogenic_diabetes|Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_2|Diabetes_mellitus,_transient_neonatal,_3|Permanent_neonatal_diabetes_mellitus|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_2|not_specified	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030087,MedGen:C5394296,OMIM:618856|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.003	B	0.007	B	0.001	D	0.992	D	1.16	L	-3.5	D	-0.313	T	0.266	T	0.318	0.734	7.898	5.43	2.548	1.095	5.508	0.344	.	0.0334	0.0151757	0.0374	0.0068	0.0234	0.0002	0.1132	0.0482	0.0617	0.0103	0.036526	5647	154602	rs1800467	0.0405	0.0405	0.0408	0.0402	0.0419	0.0402	0.0401	0.0416	0.0415	0.0066	0.0301	0.0613	2.519e-05	0.1076	0.0411	0.0419	0.0412	0.0109	0.0373	0.0373	0.0350	0.0397	0.0452	0.0365	0.0362	0.0438	0.0433	0.0079	0.0636	0.0413	0.0599	0	0.1143	0.0782	0.0452	0.0521	0.0081	0.088	0.32296	T	0.416	0.15746	T	.	.	.	.	.	.	0.000688	0.42383	D	0.160775	0.991748	0.41463	D	.	.	.	-3.5	0.94658	D	-0.9	0.26422	N	0.044	0.02658	-0.3131	0.74617	T	0.266	0.63706	T	10	0.001799047	0.00024	T	.	.	.	0.344	0.66582	.	.	.	.	0.5417257799796866	0.54097	0.625028188271	0.56690	0.457660079002	0.32989	T	.	.	.	-0.268952	0.11873	T	-0.122601	0.61588	T	0.00236025612768546	0.00024	T	0.905909	0.66829	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08851	B	.;.	.;.	2.176571	0.27743	17.56	0.95030406075164098	0.26025	0.80152	0.39866	D	AEFGBCI	0.509813	0.53912	D	-0.165714840895137	0.34568	1.974698	-0.010721070326483	0.39230	2.322853	0.999999939325509	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.43	5.43	0.79006	1.140000	0.31128	3.047000	0.36105	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.530000	0.29707	0.1558:0.0:0.6647:0.1794	5.508	0.16156	590	0.68897	.;.	KCNJ11|KCNJ11	Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1836.98	72	chr11	17387284	.	G	C	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.989e+00;DP=1898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-1.173e+00;SOR=0.721	GT:AD:DP:GQ:PL	0/1:76,75:151:99:1851,0,2053	20	0	1	0
chr11	17393168	17393168	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	158	484	576	304	0	1184	0.550186	.	.	167552	Transitory_neonatal_diabetes_mellitus|not_specified|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3721	0.35623	0.3439	0.4529	0.4653	0.1359	0.2002	0.3362	0.3884	0.3834	0.0001153	3	26028	rs1109591	0.3344	0.3348	0.3329	0.3359	0.5002	0.3336	0.3332	0.4849	0.4787	0.4563	0.4588	0.3945	0.1494	0.2029	0.5002	0.3319	0.3431	0.3829	0.3623	0.3624	0.3693	0.3550	0.4494	0.3597	0.3587	0.4405	0.4382	0.4458	0.2301	0.4494	0.3942	0.1308	0.1965	0.4521	0.3337	0.3912	0.3652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	26070.0	74	chr11	17393168	.	T	C	26070.0	.	AC=23;AF=0.548;AN=42;BaseQRankSum=3.30;DP=1375;ExcessHet=2.1081;FS=1.364;InbreedingCoeff=-0.0572;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=21.63;ReadPosRankSum=-4.590e-01;SOR=0.834	GT:AD:DP:GQ:PL	0/1:49,44:93:99:1291,0,1287	4	6	11	0
chr11	17395949	17395949	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	.	0	1469	51	2	0	55	0.0183762	.	.	44277	Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemia|not_provided|Hereditary_hyperinsulinism|not_specified	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|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0108	0.0323482	0.0228	0.0267	0.0872	0.0519	0	0.0061	0.0172	0.0278	0.0001153	3	26028	rs1800853	0.0069	0.0070	0.0065	0.0073	0.0483	0.0068	0.0067	0.0465	0.0457	0.0291	0.0483	0.0104	0.0309	0.0003	0.0239	0.0024	0.0117	0.0255	0.0141	0.0141	0.0138	0.0143	0.0292	0.0136	0.0134	0.0270	0.0261	0.0274	0	0.0292	0.0118	0.0260	0.0003	0.0340	0.0030	0.0241	0.0236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1582.11	35	chr11	17395949	.	G	A	1582.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.100e-02;DP=925;ExcessHet=0.1072;FS=0.961;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.65;ReadPosRankSum=1.61;SOR=0.525	GT:AD:DP:GQ:PL	0/1:20,41:61:99:1219,0,545	19	0	2	0
chr11	17408375	17408375	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	7	314	660	541	0	1742	0.735021	.	.	167542	Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|not_specified|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6088	0.614617	0.6125	0.6167	0.7059	0.7429	0.5248	0.6255	0.6038	0.46	0.601991	93069	154602	rs2106865	0.6116	0.6114	0.6155	0.6077	0.7147	0.6106	0.6101	0.7077	0.7048	0.6184	0.6958	0.6590	0.7147	0.5287	0.6211	0.6176	0.6245	0.4682	0.6174	0.6175	0.6250	0.6094	0.7228	0.6140	0.6127	0.7034	0.6955	0.6148	0.7252	0.6494	0.6653	0.7228	0.5244	0.6918	0.6235	0.6340	0.4757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	19895.14	44	chr11	17408375	.	T	C	19895.14	.	AC=27;AF=0.643;AN=42;BaseQRankSum=-3.920e-01;DP=1066;ExcessHet=0.1361;FS=0.000;InbreedingCoeff=0.2741;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=22.01;ReadPosRankSum=-7.820e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/1:37,29:66:99:711,0,986	4	10	7	0
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	8	536	705	273	0	1251	0.538528	.	.	167532	not_specified|Hereditary_hyperinsulinism|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Permanent_neonatal_diabetes_mellitus|not_provided|Cerebral_edema|Diabetes_mellitus,_permanent_neonatal_3	MedGen:CN169374|.|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4587	0.429912	0.4311	0.4812	0.3021	0.2844	0.4180	0.4470	0.4546	0.5041	0.426075	65872	154602	rs1799857	0.4459	0.4459	0.4447	0.4471	0.4959	0.4450	0.4446	0.4920	0.4904	0.4747	0.3195	0.4445	0.3087	0.4107	0.4108	0.4535	0.4380	0.4959	0.4417	0.4417	0.4437	0.4395	0.4867	0.4389	0.4377	0.4745	0.4722	0.4801	0.3516	0.3803	0.4438	0.3002	0.4127	0.3537	0.4459	0.4296	0.4867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.4762	39176.3	120	chr11	17430945	.	G	A	39176.3	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.597;DP=2193;ExcessHet=0.2144;FS=0.599;InbreedingCoeff=0.2364;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=20.49;ReadPosRankSum=0.183;SOR=0.749	GT:AD:DP:GQ:PL	0/1:78,65:143:99:1630,0,1907	7	6	8	0
chr11	17463424	17463424	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	7	597	684	234	0	1152	0.491049	.	.	167555	Diabetes_mellitus,_permanent_neonatal_3|Permanent_neonatal_diabetes_mellitus|not_specified|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Type_2_diabetes_mellitus	MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4870	0.467452	0.4604	0.7151	0.4818	0.4464	0.4098	0.4555	0.4456	0.3192	0.372013	57514	154602	rs2301703	0.3874	0.3872	0.3905	0.3843	0.7153	0.3865	0.3862	0.7077	0.7046	0.7153	0.4086	0.4696	0.3885	0.2994	0.4663	0.3843	0.4145	0.2911	0.4703	0.4705	0.4769	0.4636	0.7012	0.4675	0.4663	0.6944	0.6916	0.7012	0.3910	0.4287	0.4772	0.4001	0.2910	0.5340	0.3849	0.4706	0.2955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	26398.26	34	chr11	17463424	.	G	A	26398.26	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.13;DP=1950;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1378;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=17.74;ReadPosRankSum=0.562;SOR=0.708	GT:AD:DP:GQ:PL	0/1:92,104:196:99:2821,0,2359	12	2	7	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	YES	1	302	754	465	0	1684	0.736014	.	.	167535	Hyperinsulinemia|Diabetes_mellitus,_transient_neonatal,_2|Permanent_neonatal_diabetes_mellitus|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4768	0.439297	0.4740	0.4001	0.5634	0.3640	0.3196	0.5018	0.4502	0.4658	0.471094	72832	154602	rs1048099	0.4869	0.4869	0.4871	0.4867	0.6040	0.4859	0.4855	0.5873	0.5805	0.4017	0.5620	0.5426	0.3763	0.3261	0.6040	0.4976	0.4869	0.4688	0.4594	0.4596	0.4669	0.4516	0.5197	0.4566	0.4554	0.5101	0.5062	0.4018	0.5452	0.5197	0.5528	0.3808	0.3171	0.6497	0.5006	0.5081	0.4643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.7143	102418.54	245	chr11	17474969	.	A	G	102418.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=-1.654e+00;DP=4835;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.209;SOR=0.733	GT:AD:DP:GQ:PL	0/1:168,129:297:99:2894,0,4392	2	11	8	0
chr11	22280319	22280319	C	T	UTR3	ANO5	NM_001142649:c.*554C>T;NM_213599:c.*554C>T	.	.	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	313682	not_provided|Miyoshi_myopathy|ANO5-Related_Muscle_Diseases|Limb-girdle_muscular_dystrophy,_recessive	MedGen:C3661900|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MedGen:CN180644|MedGen:CN239352	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0175719	.	.	.	.	.	.	.	.	0.0048382	748	154602	rs117180492	0.0495	0.0031	0.0641	0.0403	0.1250	0.0269	0.0204	0.0226	0.0165	.	0	0	0	.	.	0.0455	0	0.1250	0.0255	0.0255	0.0256	0.0253	0.0496	0.0248	0.0245	0.0444	0.0424	0.0061	0.0241	0.0116	0.0557	0.0004	0.0366	0.0340	0.0375	0.0218	0.0496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	45.19	46	chr11	22280319	.	C	T	45.19	.	AC=2;AF=0.200;AN=10;DP=46;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.300;MQ=60.00;QD=22.59;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	16
chr11	31793814	31793814	G	A	intronic	PAX6	.	.	.	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	1	1280	221	20	0	261	0.0925204	0	0	254136	carboxymethyl-dextran-A2-gadolinium-DOTA|Anophthalmia-microphthalmia_syndrome|11p_partial_monosomy_syndrome|Aniridia_1|not_provided|Autosomal_dominant_keratitis|Abnormality_of_refraction|Irido-corneo-trabecular_dysgenesis|Aniridia,_Cerebellar_Ataxia,_And_Intellectual_Disability|Foveal_hypoplasia_1|not_specified	.|MedGen:C5680330,Orphanet:98555|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,Orphanet:893|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210,Orphanet:250923|MedGen:C3661900|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190,Orphanet:2334|Human_Phenotype_Ontology:HP:0000539,MedGen:C4025843|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MedGen:CN239197|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520,Orphanet:2253|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0459	0.0904553	0.0779	0.0398	0.2073	0.1936	0.0554	0.0518	0.0642	0.0660	0.0753354	11647	154602	rs667773	0.0579	0.0580	0.0582	0.0576	0.1929	0.0576	0.0575	0.1895	0.1881	0.0436	0.1929	0.0745	0.1485	0.0520	0.1245	0.0476	0.0709	0.0697	0.0616	0.0617	0.0594	0.0639	0.1929	0.0605	0.0601	0.1829	0.1789	0.0418	0.0055	0.1300	0.0718	0.1929	0.0499	0.1497	0.0492	0.0710	0.0681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	31936.03	332	chr11	31793814	.	G	A	31936.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.75;DP=3031;ExcessHet=1.7912;FS=1.227;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-7.400e-02;SOR=0.793	GT:AD:DP:GQ:PL	0/1:218,209:427:99:5727,0,5707	15	0	6	0
chr11	66560624	66560624	C	T	exonic	ACTN3	.	stopgain	ACTN3:NM_001104:exon15:c.C1729T:p.R577X	.	YES	431	348	516	227	0	970	0.582233	.	.	33351	Actn3_deficiency|Sprinting_performance|ACTININ,_ALPHA-3_POLYMORPHISM|INCREASED_COLD_TOLERANCE	MedGen:C3888204,OMIM:617749|MedGen:C2319308|.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|Affects	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011494	1777	154602	rs1815739	0.4457	0.4457	0.4429	0.4486	0.6506	0.4448	0.4445	0.6443	0.6418	0.1565	0.6506	0.4488	0.4864	0.3242	0.4631	0.4408	0.4423	0.5727	0.3751	0.3752	0.3731	0.3772	0.5830	0.3726	0.3715	0.5650	0.5577	0.1705	0.5662	0.5458	0.4550	0.4656	0.3104	0.4184	0.4422	0.4119	0.5830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.58543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	8.325406	0.97431	37	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.339000	0.33489	-0.261000	0.10426	0.599000	0.40250	0.997000	0.40164	0.094000	0.22579	0.852000	0.40310	.	.	.	59	0.97452	.;.	CTD-3074O7.5|BBS1|ACTN3|CTSF|ACTN3|DPP3|CTSF|ACTN3|CTSF|ACTN3|ACTN3|CTSF|C11orf80|LRFN4|ZDHHC24|CTSF|ZDHHC24|CTD-3074O7.2|PC|CTD-3074O7.2|CTSF|PC|BBS1|ZDHHC24|ZDHHC24|ZDHHC24|CTSF|ZDHHC24|CTSF|CTSF|CTD-3074O7.5|ACTN3|BBS1|ACTN3|CTSF|LRFN4|CLCF1|CCS|ACTN3|CTSF|ACTN3|CTSF|CCS|ACTN3|CTSF|RP11-867G23.8|CTD-3074O7.5|DPP3|BBS1|ACTN3|CTSF|ACTN3|CTSF|LRFN4|ACTN3|ACTN3|CTSF|CTD-3074O7.5|ACTN3|CTSF|CCS|ACTN3|RP11-867G23.8|BBS1|ACTN3|CTSF|CTD-3074O7.5|ZDHHC24|ACTN3|CTSF|C11orf80|DPP3|CTSF|CTSF|RP11-867G23.8|CTSF|BBS1|ACTN3|CTSF|LRFN4|RIN1|BBS1|ACTN3|CTSF|ACTN3|CCS|DPP3|ACTN3|CCS|CTD-3074O7.5|ACTN3|CTSF|RP11-867G23.8|CTD-3074O7.5|ACTN3|CTD-3074O7.2|RP11-755F10.1|RP11-867G23.8|PELI3|CTD-3074O7.5|DPP3|ZDHHC24|ACTN3|CTSF|LRFN4|ACTN3|RIN1|PELI3|CTD-3074O7.5|DPP3|BBS1|ACTN3|CTSF|CCS|RCE1|LRFN4	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood	SLC29A2|MRPL11|DPP3|MRPL11|MRPL11|BBS1|SLC29A2|SLC29A2|MRPL11|MRPL11|DPP3|MRPL11|DPP3|MRPL11|RP11-867G23.8|MRPL11|SLC29A2|SLC29A2|MRPL11|DPP3|SLC29A2|MRPL11|SLC29A2|MRPL11|CTD-3074O7.5|SLC29A2|MRPL11|MRPL11|MRPL11|RP11-867G23.8|SLC29A2|MRPL11|DPP3|RP11-867G23.8|SLC29A2|MRPL11|MRPL11|DPP3|DPP3|MRPL11|DPP3|ACTN3|SPTBN2|MRPL11|MRPL11	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Lung|Lung|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Testis|Whole_Blood|Whole_Blood	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0.3333	20480.46	40	chr11	66560624	.	C	T	20480.46	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.928;DP=1792;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2857;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=0.037;SOR=0.696	GT:AD:DP:GQ:PL	0/1:63,72:135:99:1821,0,1538	8	1	12	0
chr11	74457316	74457316	C	T	exonic	KCNE3	.	nonsynonymous SNV	KCNE3:NM_005472:exon3:c.G248A:p.R83H,	Brugada syndrome 6	.	0	1520	2	0	0	2	0.000657462	.	.	20580	Brugada_syndrome_6|not_provided|Cardiovascular_phenotype|Encephalopathy,_neonatal_severe,_with_lactic_acidosis_and_brain_abnormalities|Periodic_paralysis|not_specified|Syncope|Ventricular_fibrillation|Cardiomyopathy	MONDO:MONDO:0013145,MedGen:C2751089,OMIM:613119,Orphanet:130|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0060562,MedGen:C4540052,OMIM:617668|Human_Phenotype_Ontology:HP:0003768,MONDO:MONDO:0016122,MedGen:C1279412,Orphanet:206976|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|EFO:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,Human_Phenotype_Ontology:HP:0005166,MONDO:MONDO:0000190,MedGen:C0042510|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.003	B	0.003	B	0.001	N	0.518	D	1.67	L	-3.08	D	0.052	D	0.548	D	0.677	1.217	9.939	3.37	0.782	1.786	7.208	0.584	0.0346984020733	0.0051	0.000998403	0.0030	0.0010	0.0029	0	0.0029	0.0044	0	0.0005	0.0030595	473	154602	rs17215437	0.0049	0.0049	0.0050	0.0047	0.0058	0.0048	0.0047	0.0057	0.0057	0.0012	0.0027	0.0003	5.038e-05	0.0030	0.0009	0.0058	0.0045	0.0002	0.0038	0.0038	0.0041	0.0035	0.0062	0.0036	0.0034	0.0057	0.0055	0.0013	0	0.0048	0.0003	0.0002	0.0022	0	0.0062	0.0028	0	0.044	0.41096	D	0.077	0.42436	T	0.003	0.11197	B	0.003	0.08700	B	0.000953	0.40932	N	0.171732	0.51775	0.31871	D	2.215	0.62545	M	-3.08	0.92560	D	-4.39	0.77225	D	0.473	0.70878	0.052	0.83278	D	0.548	0.83417	D	10	0.012397826	0.00266	T	0.034698	0.55851	D	0.584	0.83305	.	.	0.926147321073	0.92539	0.8785517873384316	0.87822	0.153314388227	0.17299	0.572439908981	0.49023	T	0.877715	0.97412	D	-0.137141	0.30345	T	0.0313209	0.72364	D	0.0270007117914107	0.01544	T	0.711029	0.32195	T	0.49410504	0.66747	0.47591087	0.69631	0.49410504	0.66748	0.47591087	0.69632	-9.373	0.70066	D	0.5753466949753158	0.64234	0.090	0.12985	B	.;.;.	.;.;.	3.778084	0.54301	23.5	0.97865474028843114	0.36492	0.69185	0.34088	D	AEFDBI	0.252098	0.37185	N	-0.487635440452994	0.22485	1.200961	-0.400166926750244	0.24992	1.371823	0.999923799445087	0.46280	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.22	3.37	0.37692	1.997000	0.40406	1.806000	0.28922	-0.842000	0.02783	0.995000	0.38783	1.000000	0.68203	0.944000	0.48669	0.0:0.7347:0.0:0.2653	7.208	0.25095	460	0.78750	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1372.98	33	chr11	74457316	.	C	T	1372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-6.520e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1387,0,1395	20	0	1	0
chr11	78478659	78478659	T	C	exonic	NARS2	.	nonsynonymous SNV	NARS2:NM_001243251:exon8:c.A166G:p.T56A	Combined oxidative phosphorylation deficiency 24, Autosomal recessive	.	429	1091	2	0	0	2	0.000915751	.	.	1017531	not_provided|Inborn_genetic_diseases|Combined_oxidative_phosphorylation_defect_type_24	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014547,MedGen:C4015643,OMIM:616239,Orphanet:444458	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.004	B	0.004	N	1.000	N	0.04	N	-1.18	T	-0.997	T	0.162	T	0.116	0.774	8.091	-0.179	-0.110	-0.061	4.066	0.104	0.0076364337769	.	0.000199681	7.434e-05	0.0002	0.0002	0	0	7.508e-05	0	0	7.12e-05	11	154602	rs549442380	7.127e-05	7.251e-05	7.639e-05	6.611e-05	0.0026	5.991e-05	5.598e-05	0.0016	0.0013	0.0007	0.0004	0	0	0	0.0026	3.062e-05	0.0002	1.162e-05	9.849e-05	9.843e-05	8.994e-05	0.0001	0.0004	6.002e-05	4.876e-05	0.0002	0.0001	9.621e-05	0	0.0004	0	0	0	0.0068	2.94e-05	0.0005	0	0.224	0.20456	T	0.123	0.35970	T	0.001	0.07471	B	0.004	0.10090	B	0.004445	0.33730	N	0.365752	1	0.08975	N	0.105	0.08473	N	-1.18	0.78314	T	-0.73	0.20576	N	0.127	0.14338	-0.9967	0.30838	T	0.162	0.49748	T	10	0.059057087	0.07041	T	0.007636	0.20272	T	0.104	0.29647	0.472	0.54699	0.573952904867	0.57062	0.3578460179662975	0.35698	0.0451981001597	0.04896	0.333922684193	0.15525	T	0.322036	0.69308	T	-0.387643	0.02786	T	-0.472632	0.25232	T	0.0144072035327554	0.00290	T	0.70293	0.31283	T	0.055911887	0.10929	0.040063165	0.04243	0.055911887	0.10928	0.040063165	0.04243	-4.338	0.28706	T	0.12112190150960378	0.11462	0.087	0.11366	B	.;.	.;.	0.402204	0.07734	4.414	0.884172053392282	0.17960	0.01300	0.04516	N	AEFBI	0.049038	0.08432	N	-0.984353019853723	0.08937	0.4210054	-0.940499798928317	0.11144	0.5659441	0.00158615547147171	0.08668	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.25	-0.179	0.12647	0.048000	0.13962	-0.496000	0.08830	0.665000	0.62972	0.002000	0.15269	0.000000	0.08366	0.959000	0.51448	0.155:0.1839:0.0:0.6611	4.066	0.09336	677	0.60274	Aminoacyl-tRNA synthetase, class II (D/K/N)|Aminoacyl-tRNA synthetase, class II;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1112.98	35	chr11	78478659	.	T	C	1112.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.025e+00;DP=798;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=-8.870e-01;SOR=0.606	GT:AD:DP:GQ:PL	0/1:42,56:98:99:1127,0,936	20	0	1	0
chr11	119206289	119206289	-	CGG	upstream	CBL	dist=50	.	.	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Autosomal dominant	.	193	969	26	9	325	369	0.0221998	.	.	324725	Noonan-like_syndrome|Noonan_syndrome_and_Noonan-related_syndrome|not_provided	MedGen:C1834120|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007891	122	154602	rs758396206	0.0749	0.0727	0.0743	0.0754	0.1098	0.0742	0.0739	0.0971	0.0922	0.0454	0.0527	0.1000	0.0298	0.1014	0.1098	0.0775	0.0852	0.0505	0.0822	0.0830	0.0831	0.0812	0.1017	0.0810	0.0805	0.0997	0.0989	0.0514	0.1291	0.0726	0.1182	0.0423	0.1004	0.1586	0.1017	0.0955	0.0619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	1356.41	8	chr11	119206289	.	C	CCGGTGG,CCGGTGGCGGCGGCGGCGGCGGCGGCGG,CCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGG,CCGGTGGCGG,CCGG	1356.41	.	AC=2,3,1,2,2;AF=0.056,0.083,0.028,0.056,0.056;AN=36;BaseQRankSum=-6.910e-01;DP=244;ExcessHet=0.0120;FS=4.773;InbreedingCoeff=0.3283;MLEAC=2,3,1,2,1;MLEAF=0.056,0.083,0.028,0.056,0.028;MQ=60.00;MQRankSum=0.00;QD=24.66;ReadPosRankSum=0.281;SOR=0.268	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:4,0,0,2,0,0:6:50:.:.:50,63,232,63,232,232,0,169,169,163,63,232,232,169,232,63,232,232,169,232,232	11	1	0	3
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	.	15	41	80	27	63	197	0.62037	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	10774.66	67	chr12	21174718	.	T	TA,TAA	10774.66	.	AC=17,5;AF=0.405,0.119;AN=42;BaseQRankSum=0.119;DP=1378;ExcessHet=1.0911;FS=0.590;InbreedingCoeff=0.0503;MLEAC=17,5;MLEAF=0.405,0.119;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=0.054;SOR=0.635	GT:AD:DP:GQ:PL	1/1:5,43,3:51:42:1006,42,0,912,92,1041	5	2	9	0
chr12	21910318	21910319	AA	-	intronic	ABCC9	.	.	.	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	33	79	73	18	23	132	0.40824	.	.	330174	Dilated_Cardiomyopathy,_Dominant|not_specified|Hypertrichotic_osteochondrodysplasia_Cantu_type|Familial_atrial_fibrillation|not_provided	MedGen:CN239310|MedGen:CN169374|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0344	0.0213	0.0444	0.0182	0.0207	0.0378	0.0459	0.0332	0.0003458	9	26028	rs778815116	0.0264	0.0488	0.0268	0.0261	0.0448	0.0262	0.0261	0.0428	0.0420	0.0156	0.0448	0.0171	0.0118	0.0348	0.0075	0.0268	0.0248	0.0261	0.0006	0.0012	0.0006	0.0007	0.0010	0.0005	0.0005	0.0004	0.0003	0.0006	0	0.0006	0	0.0010	0.0026	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2716.27	42	chr12	21910317	.	CAA	CA,C	2716.27	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=0.301;DP=958;ExcessHet=21.3848;FS=0.000;InbreedingCoeff=-0.5954;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=4.38;ReadPosRankSum=0.401;SOR=0.677	GT:AD:DP:GQ:PL	0/1:28,5,0:33:17:17,0,609,100,624,724	3	0	16	0
chr12	32850772	32850772	T	C	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon5:c.A1372G:p.I458V	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	YES	2	1502	18	0	0	18	0.00595632	.	.	54188	Cardiomyopathy|not_specified|Arrhythmogenic_right_ventricular_dysplasia_9|PKP2-related_disorder|Cardiovascular_phenotype|Primary_dilated_cardiomyopathy|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|.|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|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.91	T	0.956	P	0.712	P	0.004	N	0.956	D	0.555	N	0.86	T	-0.803	T	0.193	T	0.384	3.001	16.01	4.7	1.880	3.390	10.608	0.238	0.131746136054	.	0.00159744	0.0013	0	8.654e-05	0	0	6.005e-05	0.0022	0.0091	0.0010737	166	154602	rs199571473	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	8.977e-05	2.236e-05	0	2.519e-05	0	0.0031	2.609e-05	0.0006	0.0095	0.0004	0.0004	0.0003	0.0005	0.0095	0.0003	0.0003	0.0073	0.0066	2.407e-05	0	0	0	0	0	0.0034	0.0001	0	0.0095	0.329	0.13175	T	0.105	0.39190	T	0.783	0.54666	P	0.588	0.54017	P	0.004144	0.34057	N	0.315671	0.95626	0.37965	D	0.73	0.18813	N	-0.36	0.68754	T	-0.57	0.19297	N	0.359	0.40063	-0.8034	0.54944	T	0.193	0.54667	T	10	0.009797215	0.00220	T	0.131746	0.81402	D	0.238	0.54217	.	.	0.561255953167	0.55787	0.12082017086383469	0.12009	0.528918376042	0.50453	0.590106010437	0.51509	T	0.141046	0.47591	T	-0.366006	0.03801	T	-0.292545	0.45508	T	0.0578029969033374	0.06818	T	0.766723	0.39447	T	0.10640072	0.25160	0.06553663	0.13298	0.10064365	0.23766	0.092574775	0.21824	-3.903	0.22348	T	0.2217153081542665	0.29907	0.138	0.58617	B	.;.	.;.	3.147412	0.42591	21.6	0.99848325046109443	0.92750	0.86419	0.45695	D	AEFDBI	0.532488	0.55233	D	0.054228577332818	0.44337	2.709635	0.133071421694827	0.46251	2.87414	0.0284775564298479	0.13834	0.553676	0.25195	0	0.573888	0.26702	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	4.7	4.7	0.58776	3.398000	0.52325	4.908000	0.45924	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1612:0.8388	10.608	0.44594	666	0.61362	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1737.98	33	chr12	32850772	.	T	C	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.477;DP=875;ExcessHet=0.0000;FS=2.854;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-4.150e-01;SOR=0.586	GT:AD:DP:GQ:PL	0/1:82,72:154:99:1752,0,2010	20	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	not_specified|not_provided|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_10	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.0	B	0.788	N	1.000	N	1.355	L	-1.87	D	-0.939	T	0.062	T	0.044	-1.423	0.021	0.792	0.038	0.335	8.240	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	1	0	0.1667	14060.55	34	chr12	76346369	.	G	A	14060.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.237;DP=1596;ExcessHet=2.5830;FS=0.521;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.628;SOR=0.773	GT:AD:DP:GQ:PL	0/1:71,80:151:99:1988,0,1887	14	0	7	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	not_provided|Ulnar-mammary_syndrome|TBX3-related_disorder	MedGen:C3661900|MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138|.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4085.46	8	chr12	114684071	.	G	GGAGA,GGAGAGA	4085.46	.	AC=6,1;AF=0.333,0.056;AN=18;BaseQRankSum=0.319;DP=165;ExcessHet=0.0000;FS=7.176;InbreedingCoeff=0.5181;MLEAC=10,2;MLEAF=0.556,0.111;MQ=60.00;MQRankSum=0.00;QD=25.77;ReadPosRankSum=-3.190e-01;SOR=0.400	GT:AD:DP:GQ:PL	1/1:0,3,0:3:9:135,9,0,135,9,135	5	2	1	12
chr12	114684071	114684071	-	GAGAGA	UTR5	TBX3	NM_016569:c.-872_-871insTCTCTC;NM_005996:c.-872_-871insTCTCTC	.	.	Ulnar-mammary syndrome, Autosomal dominant	.	183	10	1	20	12	53	0.672131	.	.	329649	not_provided|Ulnar-mammary_syndrome	MedGen:CN517202|MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009989	26	26028	rs112192237	0.0310	0.0059	0.0302	0.0318	0.0462	0.0299	0.0295	0.0388	0.0361	0.0227	0.0462	0.0605	0.0307	0.0172	0.0222	0.0287	0.0279	0.0097	0.0276	0.0278	0.0275	0.0277	0.0518	0.0269	0.0266	0.0488	0.0476	0.0145	0.0905	0.0518	0.0628	0.0440	0.0218	0.0176	0.0276	0.0341	0.0156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4085.46	8	chr12	114684071	.	G	GGAGA,GGAGAGA	4085.46	.	AC=6,1;AF=0.333,0.056;AN=18;BaseQRankSum=0.319;DP=165;ExcessHet=0.0000;FS=7.176;InbreedingCoeff=0.5181;MLEAC=10,2;MLEAF=0.556,0.111;MQ=60.00;MQRankSum=0.00;QD=25.77;ReadPosRankSum=-3.190e-01;SOR=0.400	GT:AD:DP:GQ:PL	1/1:0,3,0:3:9:135,9,0,135,9,135	5	2	1	12
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	YES	2	270	714	536	0	1786	0.767842	.	.	134680	Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|not_specified|not_provided|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4175	0.428514	0.4722	0.3467	0.4430	0.3969	0.4887	0.4772	0.5226	0.5739	0.0001537	4	26028	rs1169289	0.4566	0.4566	0.4516	0.4616	0.6297	0.4557	0.4553	0.6126	0.6057	0.3411	0.4475	0.5840	0.4311	0.4803	0.6297	0.4472	0.4625	0.5707	0.4301	0.4302	0.4244	0.4360	0.5691	0.4273	0.4262	0.5513	0.5441	0.3324	0.4382	0.4585	0.5786	0.3892	0.4991	0.6293	0.4561	0.4691	0.5691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.619	42933.13	95	chr12	120978819	.	C	G	42933.13	.	AC=26;AF=0.619;AN=42;BaseQRankSum=1.45;DP=2181;ExcessHet=0.3152;FS=1.264;InbreedingCoeff=0.1923;MLEAC=26;MLEAF=0.619;MQ=60.00;MQRankSum=0.00;QD=21.72;ReadPosRankSum=0.778;SOR=0.582	GT:AD:DP:GQ:PL	1/1:0,144:144:99:4551,431,0	4	9	8	0
chr12	120978847	120978847	A	C	exonic	HNF1A	.	nonsynonymous SNV	HNF1A:NM_000545:exon1:c.A79C:p.I27L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	YES	0	433	725	364	0	1453	0.626563	.	.	29976	Maturity_onset_diabetes_mellitus_in_young|Insulin_resistance,_susceptibility_to|not_specified|SERUM_HDL_CHOLESTEROL_LEVEL,_MODIFIER_OF|not_provided|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|Type_2_diabetes_mellitus	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C1852091|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.025	B	0.047	B	0.001	D	0.000	P	1.445	L	-4.99	D	-1.199	T	0.000	T	0.491	2.485	14.27	4.45	1.637	3.135	12.900	0.471	.	0.2625	0.298522	0.3533	0.1240	0.3657	0.4181	0.4013	0.3526	0.4043	0.4245	0.337234	52137	154602	rs1169288	0.3335	0.3336	0.3293	0.3377	0.4891	0.3327	0.3324	0.4740	0.4679	0.1157	0.3665	0.4685	0.4637	0.3871	0.4891	0.3203	0.3413	0.4211	0.2886	0.2888	0.2795	0.2980	0.4159	0.2863	0.2854	0.4007	0.3946	0.1246	0.3998	0.3441	0.4579	0.4113	0.4038	0.5136	0.3279	0.3172	0.4159	0.082	0.33254	T	0.088	0.41074	T	0.02	0.18235	B	0.013	0.16460	B	0.000599	0.43095	D	0.102545	0.00427281	0.58761	P	.	.	.	-4.99	0.98507	D	-0.92	0.26422	N	0.244	0.59478	-1.1988	0.00159	T	0.000	0.00011	T	9	0.0011825562	0.00013	T	.	.	.	0.471	0.76487	.	.	.	.	0.639855555068673	0.63920	0.661091555139	0.58901	0.671702623367	0.63080	T	0.616759	0.87931	D	-0.242214	0.15067	T	0.0231193	0.71833	D	0.0200591795459442	0.00707	T	0.545645	0.21248	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.29724	B	.;.;.;.;.;.	.;.;.;.;.;.	2.848995	0.37605	20.5	0.97610260144253136	0.34904	0.91018	0.52700	D	AEFDBHCI	0.874006	0.79666	D	-0.165784519999115	0.34565	1.974477	-0.019193184638099	0.38849	2.294743	0.999999999782079	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	3.208000	0.50816	6.975000	0.57104	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	12.900	0.57511	371	0.84287	Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal	SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|UNC119B|SPPL3|SPPL3|SPPL3|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43|ACADS|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood	.	.	rs1169288	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.5238	33561.51	89	chr12	120978847	.	A	C	33561.51	.	AC=22;AF=0.524;AN=42;BaseQRankSum=1.54;DP=1997;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=19.34;ReadPosRankSum=-1.670e-01;SOR=0.717	GT:AD:DP:GQ:PL	1/1:0,131:131:99:4341,393,0	5	6	10	0
chr12	120994314	120994314	G	C	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon4:c.G864C:p.G288G	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	YES	1	960	485	76	0	637	0.24912	.	.	134682	not_provided|Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2358	0.18111	0.2788	0.2155	0.4862	0.0010	0.3177	0.3303	0.2558	0.1095	0.0467846	7233	154602	rs56348580	0.2836	0.2840	0.2896	0.2775	0.4254	0.2829	0.2826	0.4203	0.4181	0.2029	0.4254	0.3119	0.0011	0.2745	0.2413	0.3053	0.2696	0.1032	0.2624	0.2624	0.2679	0.2566	0.3670	0.2602	0.2593	0.3590	0.3557	0.2065	0.2297	0.3670	0.3111	0.0035	0.2655	0.2828	0.3009	0.2792	0.1005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.1905	11643.9	34	chr12	120994314	.	G	C	11643.9	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-4.390e-01;DP=1800;ExcessHet=3.5521;FS=0.000;InbreedingCoeff=-0.2353;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=0.761;SOR=0.697	GT:AD:DP:GQ:PL	0/1:83,87:170:99:1740,0,2113	13	0	8	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	.	1	363	726	432	0	1590	0.686528	0	0.002	134677	not_provided|Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	P	.	.	.	.	-1.027	T	0.000	T	.	-0.974	0.301	-8.98	-3.672	-0.240	13.207	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	52313.0	129	chr12	120997672	.	G	A	52313.0	.	AC=23;AF=0.548;AN=42;BaseQRankSum=1.17;DP=2905;ExcessHet=2.1081;FS=0.567;InbreedingCoeff=-0.0572;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=19.48;ReadPosRankSum=0.674;SOR=0.641	GT:AD:DP:GQ:PL	0/1:74,85:159:99:2112,0,1637	4	6	11	0
chr12	120999311	120999311	G	A	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon8:c.G1545A:p.T515T	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	.	6	1117	359	40	0	439	0.164235	.	.	134678	Nonpapillary_renal_cell_carcinoma|Maturity-onset_diabetes_of_the_young_type_3|Insulin-resistant_diabetes_mellitus|not_provided|not_specified|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|Human_Phenotype_Ontology:HP:0000831,MedGen:C0854110|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1406	0.0628994	0.1404	0.0314	0.0832	0.0002	0.2201	0.2028	0.1604	0.0378	0.14179	21921	154602	rs55834942	0.1737	0.1737	0.1765	0.1709	0.1945	0.1731	0.1729	0.1938	0.1935	0.0288	0.0922	0.2178	0.0002	0.2269	0.1664	0.1945	0.1672	0.0430	0.1314	0.1316	0.1348	0.1279	0.1933	0.1299	0.1293	0.1906	0.1894	0.0320	0.1184	0.1158	0.2156	0.0012	0.2217	0.1735	0.1933	0.1504	0.0380	.	.	.	0.327	0.18732	T	.	.	.	.	.	.	.	.	.	.	1.73528e-07	0.58761	P	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.0015262663	0.00017	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228977	0.59467	T	-0.670285	0.00055	T	-0.591775	0.13514	T	.	.	.	0.572443	0.20452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17615	B	.	.	0.601294	0.09695	6.467	0.87586234059153356	0.17334	0.06033	0.12001	N	AEFDBHCI	0.012670	0.00144	N	.	.	.	.	.	.	0.999999993559442	0.74766	0.428477	0.06694	0	0.514364	0.08380	0	0.587068	0.30358	0	0.613276	0.41899	0	.	.	5.52	-7.74	0.01103	-1.465000	0.02463	-4.648000	0.02052	-0.135000	0.12811	0.001000	0.13787	0.000000	0.08366	0.987000	0.62547	0.6039:0.1731:0.1294:0.0937	5.290	0.15034	374	0.84073	.	C12orf43|C12orf43|P2RX4|UNC119B|P2RX4|SPPL3|SPPL3|P2RX4|SPPL3|P2RX4|P2RX4|P2RX4|P2RX4|P2RX4|GATC|COQ5|P2RX4|SPPL3|C12orf43|P2RX4|P2RX4|P2RX4|P2RX4|SPPL3|ACADS|P2RX4|P2RX4	Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood	POP5|POP5|C12orf43	Adipose_Subcutaneous|Testis|Testis	rs55834942	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.119	11632.44	33	chr12	120999311	.	G	A	11632.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=1.46;DP=1423;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-3.770e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/1:98,101:199:99:2570,0,2144	16	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	15991.24	33	chr12	132730334	.	CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	C	15991.24	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.33;DP=861;ExcessHet=0.0204;FS=5.516;InbreedingCoeff=0.4273;MLEAC=20;MLEAF=0.476;MQ=59.96;MQRankSum=0.00;QD=32.77;ReadPosRankSum=0.809;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,13:33:99:.:.:492,0,792	8	7	6	0
chr13	23320614	23320615	TG	-	intronic	SGCG	.	.	.	Muscular dystrophy, limb-girdle, type 2C, Autosomal recessive	.	188	423	406	438	67	1349	0.602444	.	.	408805	not_specified|not_provided	MedGen:CN169374|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	.	0.1291	0.0400	0.1078	0.0906	0.0515	0.1427	0.1633	0.1427	0.0002305	6	26028	rs1064794531	0.0330	0.0494	0.0331	0.0329	0.0489	0.0327	0.0326	0.0468	0.0460	0.0087	0.0363	0.0553	0.0489	0.0201	0.0322	0.0331	0.0334	0.0349	0.0006	0.0009	0.0006	0.0007	0.0010	0.0005	0.0005	0.0006	0.0005	0.0001	0	0.0010	0	0.0006	0.0014	0	0.0008	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	14729.47	28	chr13	23320613	.	TTG	GTG,*,T	14729.47	.	AC=16,3,7;AF=0.381,0.071,0.167;AN=42;BaseQRankSum=0.146;DP=715;ExcessHet=4.5793;FS=0.638;InbreedingCoeff=-0.2554;MLEAC=16,2,8;MLEAF=0.381,0.048,0.190;MQ=60.00;MQRankSum=0.00;QD=25.66;ReadPosRankSum=-7.800e-02;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,28,0,0:43:99:0|1:23320605_T_G:1131,0,535,1176,619,1795,1176,619,1795,1795:23320605	2	3	7	0
chr13	24892884	24892885	AC	-	intronic	CENPJ	.	.	.	Microcephaly 6, primary, autosomal recessive, Autosomal recessive	.	141	1131	185	50	15	300	0.111896	.	.	334164	Seckel_syndrome|not_provided|Primary_Microcephaly,_Recessive	MONDO:MONDO:0019342,MedGen:C0265202,OMIM:PS210600,Orphanet:808|MedGen:C3661900|MedGen:CN239428	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1854	.	0.0168	0.0165	0.0150	0.0025	0.0166	0.0220	0.0247	0.0112	0.0004226	11	26028	rs1491571085	0.0158	0.0295	0.0161	0.0155	0.0177	0.0156	0.0155	0.0174	0.0173	0.0173	0.0081	0.0224	0.0004	0.0122	0.0118	0.0177	0.0141	0.0102	0.0114	0.0124	0.0112	0.0116	0.0230	0.0108	0.0106	0.0216	0.0211	0.0230	0	0.0089	0.0215	0.0004	0.0015	0.0049	0.0036	0.0119	0.0107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	244.0	30	chr13	24892883	.	AAC	*,A	244.0	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=1.37;DP=693;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3549;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=-8.970e-01;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,12,0:26:99:.:.:567,0,269,468,325,756	10	0	10	0
chr13	48303844	48303844	G	C	UTR5	RB1	NM_000321:c.-69G>C	.	.	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	71	1446	4	1	0	6	0.00207039	.	.	334886	Hereditary_cancer-predisposing_syndrome|Retinoblastoma	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human_Phenotype_Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200,Orphanet:790	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs753117180	0.0004	0.0003	0.0002	0.0005	0.0035	0.0003	0.0003	0.0032	0.0031	0	0.0002	0	0	2.985e-05	0.0020	0.0002	0.0004	0.0035	0.0003	0.0003	0.0002	0.0004	0.0041	0.0002	0.0002	0.0027	0.0023	0	0	0.0001	0	0	9.429e-05	0	0.0003	0.0005	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1594.98	34	chr13	48303844	.	G	C	1594.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=818;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=0.518;SOR=0.690	GT:AD:DP:GQ:PL	0/1:53,63:116:99:1609,0,1151	20	0	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	11312.51	41	chr14	23419114	.	T	TG	11312.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-6.730e-01;DP=1170;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=17.01;ReadPosRankSum=0.641;SOR=0.688	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1801,0,1603	14	0	7	0
chr14	65102446	65102449	CACT	-	UTR5	MAX	NM_001271069:c.-107_-110delAGTG;NM_197957:c.-107_-110delAGTG;NM_001320415:c.-24513_-24516delAGTG;NM_002382:c.-107_-110delAGTG;NM_145112:c.-107_-110delAGTG;NM_145113:c.-107_-110delAGTG;NM_001271068:c.-107_-110delAGTG;NM_145114:c.-107_-110delAGTG	.	.	.	.	518	992	9	3	0	15	0.00750375	.	.	321008	Pheochromocytoma|not_provided	Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	.	.	.	.	.	.	.	.	0.001191	31	26028	rs556734672	0.0113	0.0114	0.0115	0.0111	0.0126	0.0111	0.0111	0.0124	0.0123	0.0042	0.0083	0.0102	0.0017	0.0118	0.0090	0.0126	0.0097	0.0034	0.0090	0.0090	0.0098	0.0081	0.0127	0.0086	0.0084	0.0120	0.0117	0.0034	0	0.0103	0.0107	0.0025	0.0115	0.0034	0.0127	0.0104	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	255.94	23	chr14	65102445	.	ACACT	A	255.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.832;DP=475;ExcessHet=0.0000;FS=5.021;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.06;ReadPosRankSum=-1.741e+00;SOR=0.557	GT:AD:DP:GQ:PL	0/1:8,7:15:99:270,0,314	20	0	1	0
chr14	92071009	92071009	-	G	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.68_69insC:p.P25Tfs*24	Machado-Joseph disease, Autosomal dominant	.	98	926	380	118	0	616	0.249595	.	.	390136	not_specified|not_provided|ATXN3-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3624	0.1685	0.3080	0.2350	0.3289	0.3820	0.3723	0.5076	0.0120639	314	26028	rs763461489	0.3602	0.2726	0.3598	0.3606	0.4269	0.3591	0.3586	0.4211	0.4187	0.2335	0.2356	0.4259	0.4269	0.3289	0.3968	0.3614	0.3556	0.3795	0.4786	0.4687	0.4802	0.4770	0.5397	0.4742	0.4724	0.5165	0.5072	0.4754	0.5068	0.4371	0.5341	0.4620	0.4534	0.4936	0.4840	0.4802	0.5397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	15824.71	66	chr14	92071009	.	C	CG	15824.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.151e+00;DP=1672;ExcessHet=0.7800;FS=1.838;InbreedingCoeff=-0.0717;MLEAC=14;MLEAF=0.412;MQ=59.16;MQRankSum=0.00;QD=20.52;ReadPosRankSum=0.215;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,36:75:99:.:.:1056,0,1111	7	2	8	4
chr15	53523331	53523332	AG	-	intronic	WDR72	.	.	.	Amelogenesis imperfecta, type IIA3, Autosomal recessive	.	14	784	401	71	252	795	0.257224	.	.	340892	not_provided|Amelogenesis_Imperfecta,_Recessive|WDR72-related_disorder	MedGen:C3661900|MedGen:CN239209|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2306	0.2143	0.2694	0.3617	0.1755	0.2088	0.2154	0.2560	0.0028913	447	154602	rs112552047	0.0994	0.1689	0.0975	0.1014	0.2643	0.0989	0.0987	0.2589	0.2567	0.1268	0.1416	0.1098	0.2643	0.1076	0.0653	0.0894	0.1105	0.1377	0.0150	0.0172	0.0147	0.0154	0.0702	0.0145	0.0143	0.0642	0.0618	0.0283	0.0077	0.0060	0.0015	0.0702	0.0031	0.0034	0.0057	0.0146	0.0399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	13790.18	34	chr15	53523330	.	AAG	AAGAG,AAGAGAG,A	13790.18	.	AC=3,12,1;AF=0.071,0.286,0.024;AN=42;BaseQRankSum=0.00;DP=1235;ExcessHet=0.3152;FS=0.576;InbreedingCoeff=0.1923;MLEAC=3,12,1;MLEAF=0.071,0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=21.82;ReadPosRankSum=0.452;SOR=0.796	GT:AD:DP:GQ:PL	0/2:27,2,26,5:60:99:963,787,1607,0,902,1067,907,1490,768,1894	9	0	0	0
chr15	59205423	59205423	G	C	exonic	MYO1E	.	nonsynonymous SNV	MYO1E:NM_004998:exon15:c.C1593G:p.I531M,	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	390233	not_specified|Microscopic_hematuria|Kidney_disorder|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0002907,MedGen:C0239937|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.995	D	0.986	D	0.000	D	1.000	D	2.19	M	-2.3	D	0.160	D	0.600	D	0.767	3.023	16.09	-4.78	-0.811	0.111	9.068	0.613	.	0.0065	0.00159744	0.0069	0.0019	0.0013	0	0.0239	0.0092	0.0044	0.0019	0.006921	1070	154602	rs140447165	0.0087	0.0087	0.0090	0.0084	0.0099	0.0086	0.0085	0.0098	0.0097	0.0008	0.0012	0.0021	0	0.0195	0.0003	0.0099	0.0061	0.0018	0.0064	0.0064	0.0060	0.0067	0.0091	0.0060	0.0059	0.0085	0.0083	0.0014	0	0.0018	0.0012	0	0.0226	0	0.0091	0.0033	0.0025	0.001	0.78490	D	0.005	0.72224	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2	0.54354	M	-2.3	0.87671	D	-2.34	0.51811	N	0.855	0.85132	0.160	0.85223	D	0.600	0.85753	D	10	0.015333265	0.00322	T	.	.	.	0.613	0.84879	.	.	0.839400369685	0.83786	0.4769629184325379	0.47616	0.699661806568	0.61046	0.675327539444	0.63600	T	0.742465	0.92878	D	-0.132624	0.31072	T	0.0490424	0.73521	D	0.0556427014271906	0.06464	T	0.984402	0.94639	D	0.7344658	0.79977	0.68983847	0.81751	0.7450149	0.80582	0.68145686	0.81281	-10.722	0.78111	D	.	.	0.276	0.50997	B	.	.	2.206621	0.28145	17.70	0.99169010746788711	0.54326	0.87299	0.46796	D	AEFBI	0.334843	0.43347	N	-0.265317804528077	0.30496	1.701018	-0.415142904420488	0.24553	1.345132	0.999042003454734	0.38290	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.0	-4.78	0.02975	0.035000	0.13685	-2.746000	0.03404	-0.791000	0.03245	0.811000	0.29866	0.000000	0.08366	0.968000	0.53726	0.7184:0.0:0.1589:0.1227	9.068	0.35637	333	0.86326	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	2204.98	43	chr15	59205423	.	G	C	2204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.790e-01;DP=882;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=2.16;SOR=0.739	GT:AD:DP:GQ:PL	0/1:70,88:158:99:2219,0,1653	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	79118.81	83	chr15	59256276	.	C	T	79118.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=2.30;DP=2826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=28.56;ReadPosRankSum=1.38;SOR=0.954	GT:AD:DP:GQ:PL	1/1:0,151:151:99:4195,453,0	0	21	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7778	4747.06	3	chr15	68207979	.	GACAC	G,GACACAC	4747.06	.	AC=14,18;AF=0.389,0.500;AN=36;BaseQRankSum=-4.310e-01;DP=175;ExcessHet=0.8031;FS=1.245;InbreedingCoeff=0.1441;MLEAC=15,20;MLEAF=0.417,0.556;MQ=60.00;MQRankSum=0.00;QD=33.91;ReadPosRankSum=-5.450e-01;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,5,0:6:27:.:.:202,0,27,205,42,247	0	4	2	3
chr15	68211667	68211667	G	A	intronic	CLN6	.	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	0	1511	11	0	0	11	0.00362677	0.0016	0.048	134235	Inborn_genetic_diseases|Neuronal_ceroid_lipofuscinosis|not_provided|not_specified|Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy|Ceroid_lipofuscinosis,_neuronal,_6A	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0000902,MedGen:C0795950,OMIM:218000,Orphanet:1496|MONDO:MONDO:0011144,MedGen:C5551375,OMIM:601780,Orphanet:168491,Orphanet:228363	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0125	0.0081869	0.0116	0.0036	0.0099	0	0.0221	0.0160	0.0166	0.0017	0.0119339	1845	154602	rs149692285	0.0152	0.0152	0.0156	0.0148	0.0172	0.0150	0.0150	0.0170	0.0169	0.0029	0.0147	0.0068	7.557e-05	0.0222	0.0014	0.0172	0.0132	0.0017	0.0130	0.0130	0.0128	0.0132	0.0212	0.0125	0.0123	0.0193	0.0186	0.0034	0.0011	0.0212	0.0098	0.0002	0.0260	0.0102	0.0169	0.0185	0.0017	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-3.67	0.95247	D	0.83	0.01787	N	0.082	0.05799	.	.	.	.	.	.	.	0.0026243627	0.00040	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289429	0.09694	T	-0.174241	0.57055	T	.	.	.	0.39816	0.10064	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32275	B	.	.	0.184443	0.05715	2.160	0.82293599338319035	0.14117	0.04920	0.10674	N	AEFDGBCI	0.055483	0.10178	N	.	.	.	.	.	.	0.999828640448905	0.43622	0.67177	0.52595	0	0.702456	0.74545	0	0.759307	0.98198	0	0.655142	0.61905	0	.	.	4.5	2.4	0.28568	-0.091000	0.11111	-0.333000	0.09875	-0.126000	0.13398	0.081000	0.22364	0.001000	0.17328	0.390000	0.26558	0.3081:0.0:0.6919:0.0	5.853	0.17952	694	0.58444	.	CLN6|CLN6|CLN6|CLN6|CLN6|CLN6|CLN6|CLN6|CLN6|CLN6|CLN6|CLN6|CLN6|CLN6|CLN6|CLN6|CLN6	Adipose_Visceral_Omentum|Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Pancreas|Stomach|Testis|Thyroid|Whole_Blood	.	.	rs149692285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2956.98	39	chr15	68211667	.	G	A	2956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.041e+00;DP=933;ExcessHet=0.0000;FS=2.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=-7.780e-01;SOR=0.517	GT:AD:DP:GQ:PL	0/1:90,108:198:99:2971,0,2474	20	0	1	0
chr15	89630403	89630403	G	A	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon16:c.C3202T:p.R1068W,	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	529144	Acrocallosal_syndrome|not_provided|KIF7-related_disorder	MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.87	L	-0.61	T	-0.013	T	0.479	T	0.685	3.880	19.72	4.3	1.143	3.934	14.993	0.525	0.292663992437	0.0002	0.000199681	0.0006	0	0.0003	0.0002	0	0.0007	0	0.0011	0.0003816	59	154602	rs147191956	0.0003	0.0003	0.0003	0.0004	0.0019	0.0003	0.0003	0.0011	0.0008	0.0001	0.0002	0.0042	0.0004	0	0.0019	0.0002	0.0005	0.0010	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.811e-05	0	0.0001	0.0043	0.0008	0	0	0.0002	0.0005	0.0010	0.002	0.72154	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.075	0.57047	M	-0.61	0.71779	T	-5.15	0.83357	D	0.742	0.74189	-0.0131	0.81983	T	0.479	0.80088	T	10	0.1428135	0.27121	T	0.292664	0.90617	D	0.525	0.79886	.	.	0.866923494761	0.86563	0.5059080629764829	0.50512	0.151484618401	0.17099	0.853851675987	0.90195	D	0.672501	0.90295	D	-0.133355	0.30954	T	-0.0249299	0.68704	D	0.155639581505526	0.17544	T	0.966303	0.87634	D	0.6552322	0.75643	0.5584526	0.74456	0.6552322	0.75645	0.5584526	0.74457	-13.61	0.91720	D	0.6325771152031752	0.70218	0.565	0.67424	P	.	.	4.851734	0.79312	27.1	0.99920121380343407	0.98721	0.92257	0.55297	D	AEFDBCI	0.705839	0.66109	D	0.526083407036831	0.68639	5.244721	0.486839522293622	0.67115	5.041284	0.999012517554487	0.38212	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.24	4.3	0.50540	3.981000	0.56611	5.681000	0.49295	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8563:0.1437	14.993	0.71063	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	845.98	40	chr15	89630403	.	G	A	845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.617;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=0.968;SOR=0.701	GT:AD:DP:GQ:PL	0/1:50,36:86:99:860,0,1238	20	0	1	0
chr15	99973383	99973388	TGGGCT	-	UTR3	ADAMTS17	NM_139057:c.*1019_*1014delAGCCCA	.	.	Weill-Marchesani-like syndrome, Autosomal recessive	.	1266	160	13	83	0	179	0.358717	.	.	340315	Weill-Marchesani_4_syndrome,_recessive|not_provided	MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195,Orphanet:363992|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58726	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs11277519	0.5667	0.0244	0.3750	0.6364	1.0000	0.3611	0.2965	0.2935	0.2192	1.0000	.	0.5000	.	0.5000	.	0.5625	0.5000	.	0.6338	0.6351	0.6333	0.6342	0.6580	0.6304	0.6290	0.6529	0.6507	0.6083	0.6834	0.5772	0.6358	0.5174	0.7472	0.5310	0.6580	0.5885	0.5808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	409.14	68	chr15	99973382	.	CTGGGCT	C	409.14	.	AC=8;AF=0.364;AN=22;DP=68;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5254;MLEAC=11;MLEAF=0.500;MQ=60.00;QD=35.29;SOR=1.085	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	7	4	0	10
chr16	15725135	15725135	A	-	UTR3	NDE1	NM_001143979:c.*884delA;NM_017668:c.*884delA	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	500	719	142	6	155	309	0.0967337	.	.	333972	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1305880573	0.1861	0.1425	0.1870	0.1852	0.2867	0.1849	0.1844	0.2782	0.2747	0.2867	0.2002	0.1976	0.2168	0.2046	0.2114	0.1792	0.1980	0.1522	0.0833	0.0835	0.0830	0.0835	0.2302	0.0820	0.0814	0.2261	0.2244	0.2302	0	0.0405	0.0239	0.0395	0.0450	0.0187	0.0183	0.0628	0.0215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4750.45	99	chr16	15725134	.	TA	T,TAA	4750.45	.	AC=5,9;AF=0.119,0.214;AN=42;BaseQRankSum=-1.360e-01;DP=2854;ExcessHet=14.4320;FS=1.194;InbreedingCoeff=-0.5163;MLEAC=5,9;MLEAF=0.119,0.214;MQ=60.00;MQRankSum=0.00;QD=3.13;ReadPosRankSum=0.858;SOR=0.574	GT:AD:DP:GQ:PL	0/2:59,0,32:100:99:478,760,3250,0,1676,1391	7	0	5	0
chr16	15725150	15725150	C	A	UTR3	NDE1	NM_001143979:c.*899C>A;NM_017668:c.*899C>A	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	154	1238	45	15	70	145	0.0294002	.	.	324455	not_provided|Aortic_aneurysm,_familial_thoracic_4|Lissencephaly,_Recessive|Lissencephaly_4	MedGen:C3661900|MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|MedGen:CN239458|MONDO:MONDO:0013527,MedGen:C3151461,OMIM:614019,Orphanet:1083	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140974	.	.	.	.	.	.	.	.	0.000461	12	26028	rs79015533	0.0957	0.0667	0.0953	0.0961	0.1452	0.0949	0.0945	0.1390	0.1365	0.1452	0.0530	0.0887	0.0802	0.0853	0.0694	0.0990	0.1044	0.0956	0.1110	0.1127	0.1142	0.1077	0.1506	0.1096	0.1090	0.1473	0.1459	0.1506	0.1333	0.0728	0.0914	0.0828	0.0719	0.0863	0.1073	0.1103	0.0984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	7408.73	51	chr16	15725150	.	C	A,*	7408.73	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=1.24;DP=1700;ExcessHet=0.1217;FS=8.174;InbreedingCoeff=0.2222;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=2.15;SOR=1.199	GT:AD:DP:GQ:PL	1/2:0,84,18:102:99:3653,529,147,2060,0,2047	16	0	4	0
chr16	23380564	23380564	A	G	exonic	SCNN1B	.	synonymous SNV	SCNN1B:NM_000336:exon13:c.A1686G:p.L562L,	Bronchiectasis with or without elevated sweat chloride 1, Autosomal dominant;Liddle syndrome, Autosomal dominant;Pseudohypoaldosteronism, type I, Autosomal recessive	YES	0	1518	4	0	0	4	0.00131579	.	.	342436	Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Liddle_syndrome_1|Pseudohypoaldosteronism,_type_IB1,_autosomal_recessive|not_provided	MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033|MONDO:MONDO:0020607,MedGen:CN031472,OMIM:177200,Orphanet:526|MONDO:MONDO:0009917,MedGen:C5774176,OMIM:264350,Orphanet:171876,Orphanet:756|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0001	9.658e-05	0	0	0	6.009e-05	0	0.0006	0.0001164	18	154602	rs541449814	9.714e-05	9.713e-05	5.173e-05	0.0001	0.0021	8.376e-05	7.915e-05	0.0012	0.0009	0	4.472e-05	3.826e-05	0	0	0.0021	3.058e-05	0.0001	0.0010	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	0	0.0307	0	0	0	0	0	5.881e-05	0.0009	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	0.02381	1297.98	33	chr16	23380564	.	A	G	1297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.881;DP=819;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=0.315;SOR=0.732	GT:AD:DP:GQ:PL	0/1:48,51:99:99:1312,0,1226	20	0	1	0
chr16	50722629	50722629	G	C	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon7:c.G2641C:p.G881R	Blau syndrome, Autosomal dominant	.	0	1447	69	3	3	78	0.025261	.	.	19731	not_specified|Inflammatory_bowel_disease_1|Yao_syndrome|Psoriatic_arthritis,_susceptibility_to|Blau_syndrome|Autoinflammatory_syndrome|not_provided|Regional_enteritis	MedGen:CN169374|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321|MONDO:MONDO:0100232,MedGen:C1835223,OMIM:607507|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MeSH:D003424,MedGen:C0678202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|association	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.986	D	0.000	D	1.000	D	1.79	L	0.57	T	-0.696	T	0.138	T	0.94	4.373	23.1	5.91	2.813	5.363	15.796	0.108	.	0.0102	0.00459265	0.0099	0.0013	0.0071	0	0.0026	0.0141	0.0154	0.0083	0.0096894	1498	154602	rs2066845	0.0131	0.0132	0.0130	0.0133	0.0380	0.0130	0.0129	0.0338	0.0323	0.0023	0.0085	0.0423	5.038e-05	0.0029	0.0380	0.0141	0.0135	0.0091	0.0103	0.0104	0.0106	0.0100	0.0147	0.0099	0.0097	0.0139	0.0136	0.0027	0.0022	0.0138	0.0432	0	0.0025	0.0238	0.0147	0.0161	0.0062	0.0	0.91255	D	0.008	0.67890	D	0.998	0.90584	D	0.986	0.76916	D	0.000329	0.45700	D	0.137455	0.999972	0.53665	D	0.985	0.24966	L	0.57	0.54347	T	-5.82	0.88289	D	0.748	0.74735	-0.6961	0.60624	T	0.138	0.45508	T	10	0.010364234	0.00231	T	.	.	.	0.343	0.66488	.	.	.	.	0.5552220685344174	0.55449	0.543973793006	0.51462	0.639326453209	0.58468	T	0.246023	0.61542	T	-0.0755688	0.40431	T	0.135594	0.79259	D	0.0287640030574061	0.01801	T	0.768023	0.39669	T	0.8308712	0.85963	0.8893869	0.94223	0.8272104	0.85711	0.89788145	0.94825	-7.639	0.58582	D	0.7701228907073245	0.85119	0.742	0.79764	P	.;.	.;.	4.687193	0.75062	26.3	0.99930967160495277	0.99387	0.93656	0.58818	D	AEFBI	0.678290	0.64270	D	0.773275856692237	0.84410	8.280031	0.780502591572662	0.88404	9.570225	0.999942795872936	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.91	5.91	0.95240	4.498000	0.60095	9.841000	0.81924	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	15.796	0.78185	679	0.60090	.;.	RP11-327F22.1|RP11-327F22.1|RP11-327F22.1|RP11-327F22.1|RP11-327F22.1	Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Lung|Thyroid	.	.	rs2066845	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	3486.11	33	chr16	50722629	.	G	C	3486.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.270e-01;DP=1044;ExcessHet=0.1072;FS=0.373;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.01;ReadPosRankSum=-5.020e-01;SOR=0.733	GT:AD:DP:GQ:PL	0/1:128,86:214:99:1819,0,3136	19	0	2	0
chr16	81096282	81096282	C	A	UTR5	GCSH	NM_004483:c.-4G>T	.	.	Glycine encephalopathy, Autosomal recessive	.	48	1134	338	2	0	342	0.131034	.	.	797414	not_provided|GCSH-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1306	.	0.125	.	.	0.2	0	0.13	3.84e-05	1	26028	rs779613867	0.0530	0.1491	0.0569	0.0490	0.0617	0.0525	0.0523	0.0611	0.0608	0.0419	0.0274	0.0224	0.0065	0.0052	0.0352	0.0617	0.0371	0.0404	0.0003	0.0025	0.0004	0.0003	0.0006	0.0003	0.0002	0.0003	0.0002	0.0002	0.0011	0.0002	0	0.0006	0.0009	0	0.0004	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	317.98	34	chr16	81096282	.	C	A	317.98	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.866e+00;DP=634;ExcessHet=2.5830;FS=1.133;InbreedingCoeff=-0.2045;MLEAC=7;MLEAF=0.167;MQ=49.85;MQRankSum=-2.506e+00;QD=0.98;ReadPosRankSum=-1.501e+00;SOR=0.595	GT:AD:DP:GQ:PL	0/1:22,8:30:99:108,0,553	14	0	7	0
chr16	88814436	88814436	G	C	UTR3	GALNS	NM_001323543:c.*3C>G;NM_001323544:c.*3C>G;NM_000512:c.*3C>G	.	.	Mucopolysaccharidosis IVA, Autosomal recessive	.	0	1479	39	1	3	44	0.0136712	.	.	342895	Morquio_syndrome|Mucopolysaccharidosis,_MPS-IV-A|not_provided	MONDO:MONDO:0018938,MedGen:C0026707,Orphanet:582|MONDO:MONDO:0009659,MedGen:C0086651,OMIM:253000,Orphanet:309297,Orphanet:582|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0073	0.00998403	0.0147	0.0027	0.01	0.0306	0.0517	0.0176	0.015	0.0133	0.0071215	1101	154602	rs77826920	0.0121	0.0120	0.0123	0.0120	0.0150	0.0120	0.0119	0.0140	0.0136	0.0013	0.0087	0.0123	0.0150	0.0205	0.0076	0.0120	0.0132	0.0126	0.0104	0.0104	0.0098	0.0110	0.0200	0.0100	0.0098	0.0169	0.0158	0.0020	0.0187	0.0097	0.0124	0.0200	0.0235	0.0102	0.0125	0.0123	0.0114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1834.11	34	chr16	88814436	.	G	C	1834.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.964;DP=981;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-6.270e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1234,0,953	19	0	2	0
chr16	89919709	89919709	C	T	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.C451T:p.R151C,	.	.	0	1496	25	1	0	27	0.00894336	.	.	29351	not_specified|not_provided|OCULOCUTANEOUS_ALBINISM,_TYPE_II,_MODIFIER_OF|Melanoma,_cutaneous_malignant,_susceptibility_to,_5|Increased_analgesia_from_kappa-opioid_receptor_agonist,_female-specific|Skin/hair/eye_pigmentation_2,_red_hair/fair_skin	MedGen:CN169374|MedGen:C3661900|MedGen:C1835054|MONDO:MONDO:0013133,MedGen:C2751295,OMIM:613099,Orphanet:618|MedGen:C2751296,OMIM:613098|MedGen:C4016260	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	1.0	D	0.996	D	0.115	U	1.000	D	3.82	H	0.95	T	-0.532	T	0.040	T	0.884	5.185	32	4.81	2.234	4.592	16.852	0.312	.	0.0562	0.0185703	0.0449	0.0141	0.0079	0.0009	0.0683	0.0698	0.0214	0.0043	0.0471986	7297	154602	rs1805007	0.0779	0.0778	0.0803	0.0754	0.0928	0.0775	0.0773	0.0924	0.0922	0.0111	0.0112	0.0677	0.0007	0.0665	0.0088	0.0928	0.0643	0.0040	0.0462	0.0463	0.0480	0.0444	0.0741	0.0453	0.0450	0.0724	0.0717	0.0148	0.0504	0.0167	0.0746	0.0010	0.0699	0.0068	0.0741	0.0270	0.0048	0.0	0.91255	D	0.013	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.115208	0.19243	U	0.369626	1	0.81001	D	3.46	0.92336	M	0.95	0.43279	T	-7.37	0.94674	D	0.724	0.72567	-0.5325	0.67447	T	0.040	0.17319	T	9	0.007609129	0.00173	T	.	.	.	0.312	0.63375	.	.	.	.	0.4571810339915126	0.45636	0.13317876906	0.14996	.	.	.	0.52156	0.83278	D	-0.133466	0.30936	T	0.112987	0.77771	D	0.0903402980580785	0.11259	T	0.80242	0.44873	T	0.76401764	0.81691	0.77087986	0.86473	0.76401764	0.81693	0.77087986	0.86474	-7.515	0.57716	D	0.7333208203254001	0.81507	0.222	0.45835	B	.;.;.;.	.;.;.;.	4.183970	0.63012	24.5	0.99926138966509948	0.99103	0.94015	0.59857	D	AEFDGBHCI	0.824961	0.74475	D	0.775707585086836	0.84564	8.323473	0.670783352917771	0.80168	7.23898	1.0	0.98316	0.764865	0.99124	0	0.610034	0.51514	0	0.731555	0.93304	0	0.567892	0.33627	0	.	.	4.81	4.81	0.61401	4.957000	0.63358	2.610000	0.33572	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.0:1.0:0.0:0.0	16.852	0.85864	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	CHMP1A|SPIRE2|DBNDD1|GAS8-AS1|DBNDD1|FANCA|SPIRE2|GAS8|DBNDD1|CHMP1A|SPIRE2|DBNDD1|DBNDD1|CHMP1A|SPIRE2|DBNDD1|GAS8|GAS8|GAS8|GAS8-AS1|URAHP|FANCA|GAS8|GAS8-AS1|URAHP|GAS8|GAS8-AS1|GAS8|GAS8-AS1|GAS8-AS1|GAS8|FANCA|SPIRE2|DBNDD1|CPNE7|VPS9D1|FANCA|DBNDD1|FANCA|DBNDD1|DBNDD1|DBNDD1|FANCA|SPIRE2|URAHP|CHMP1A|SPIRE2|DBNDD1|DBNDD1|AC137932.6|DBNDD1|URAHP|CHMP1A|CDK10|DBNDD1|SPIRE2|GAS8|DBNDD1|URAHP|CHMP1A|CDK10|DBNDD1|DBNDD1|SPIRE2|GAS8|DBNDD1|DBNDD1|CDK10|FANCA|GAS8|DBNDD1|CHMP1A|FANCA|SPIRE2|GAS8|DBNDD1|DBNDD1|CHMP1A|FANCA|DBNDD1|DBNDD1|CHMP1A|CDK10|FANCA|SPIRE2|CHMP1A|FANCA|SPIRE2|DBNDD1|CHMP1A|SPATA33	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|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_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood	SPATA33|CDK10|AFG3L1P|FANCA|FANCA|FANCA|SPATA33|ZNF276|FANCA|SPATA33|ZNF276|SPATA33|FANCA|SPATA33|FANCA|ZNF276|FANCA|FANCA|DPEP1|FANCA|FANCA	Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Testis|Whole_Blood	rs1805007	Uncertain significance	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	1	0	0	0	0	1	0	0.04762	4467.11	33	chr16	89919709	.	C	T	4467.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.24;DP=1101;ExcessHet=0.1072;FS=4.098;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=2.11;SOR=0.511	GT:AD:DP:GQ:PL	0/1:69,96:165:99:2524,0,1512	19	0	2	0
chr17	17147359	17147359	G	A	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon11:c.G1601A:p.R534K	.	.	431	1074	17	0	0	17	0.00785219	.	.	2716962	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.58	T	0.939	P	0.842	P	.	.	1.000	D	0.095	N	-0.92	T	-0.582	T	0.328	T	0.776	4.115	21.2	5.4	2.701	7.751	19.542	0.384	0.0224399987283	0.0003	0.000199681	0.0007	9.614e-05	0.0007	0	0	0.0006	0	0.0023	0.000608	94	154602	rs200990767	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0005	0.0018	0.0018	0.0001	0.0009	0.0008	0	0	0.0028	0.0004	0.0008	0.0021	0.0005	0.0005	0.0004	0.0005	0.0027	0.0004	0.0003	0.0016	0.0013	2.405e-05	0	0.0007	0.0006	0	0	0	0.0006	0	0.0027	0.341	0.12673	T	0.709	0.13993	T	0.939	0.52645	P	0.842	0.60272	P	.	.	.	.	0.999307	0.46608	D	0.89	0.21648	L	-0.92	0.75108	T	-0.28	0.11547	N	0.441	0.48596	-0.5816	0.65554	T	0.328	0.69631	T	9	0.037644327	0.02132	T	0.02244	0.45329	T	0.384	0.70112	.	.	0.890180543243	0.88909	0.8531674880308365	0.85278	0.631570097891	0.57109	.	.	.	0.250749	0.62089	T	-0.164656	0.26045	T	-0.0151516	0.69348	D	0.0525764673948288	0.05946	T	0.885811	0.61165	D	0.23923945	0.46812	0.2482315	0.50369	0.23923945	0.46811	0.2482315	0.50368	-9.435	0.70454	D	.	.	0.246	0.50527	B	.;.;.	.;.;.	3.637068	0.51552	23.1	0.99509447787367855	0.68558	0.96582	0.69863	D	AEFGBCI	0.919119	0.88917	D	0.306371879108372	0.56475	3.812243	0.444331196750598	0.64353	4.688597	0.999999999808468	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.685742	0.62368	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	6.710000	0.74492	11.917000	0.99728	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.542	0.95269	544	0.72685	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|Myosin phosphatase-RhoA interacting protein, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|Myosin phosphatase-RhoA interacting protein, PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1269.98	40	chr17	17147359	.	G	A	1269.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.572;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.68;ReadPosRankSum=0.00;SOR=0.734	GT:AD:DP:GQ:PL	0/1:32,49:81:99:1284,0,720	20	0	1	0
chr17	17215284	17215284	C	T	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144997:exon12:c.G1333A:p.A445T	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	YES	0	1493	28	1	0	30	0.00994695	.	.	18409	not_specified|not_provided|Birt-Hogg-Dube_syndrome|Familial_spontaneous_pneumothorax|Carcinoma_of_colon|Hereditary_cancer-predisposing_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.0	B	0.257	N	1.000	N	-1.1	N	-2.99	D	-0.568	T	0.295	T	0.061	1.047	9.277	-7.45	-1.837	-0.036	7.727	0.203	0.0604308747319	0.0019	0.000798722	0.0027	0.0005	0.0013	0	0.0008	0.0037	0.0022	0.0033	0.0026132	404	154602	rs41419545	0.0030	0.0030	0.0029	0.0031	0.0132	0.0029	0.0029	0.0108	0.0099	0.0005	0.0021	0.0024	0	0.0007	0.0132	0.0032	0.0032	0.0040	0.0024	0.0024	0.0025	0.0023	0.0059	0.0022	0.0022	0.0049	0.0045	0.0003	0	0.0059	0.0035	0.0002	0.0005	0.0204	0.0033	0.0043	0.0023	0.87	0.02606	T	0.553	0.09329	T	0.0	0.02946	B	0.0	0.01387	B	0.257102	0.15389	N	0.695908	1	0.08975	N	-1.04	0.01097	N	-2.99	0.92108	D	0.19	0.04947	N	0.205	0.22742	-0.5684	0.66079	T	0.295	0.66640	T	10	0.004835129	0.00103	T	0.060431	0.67999	D	0.203	0.48915	.	.	0.187035705434	0.18338	0.2022582816453621	0.20142	0.356774467599	0.37413	0.292996585369	0.09360	T	0.30576	0.67800	T	-0.477074	0.00770	T	-0.459533	0.26650	T	0.00136713459327549	0.00014	T	0.59684	0.22194	T	0.023952244	0.01180	0.045600146	0.06172	0.03681238	0.04600	0.042168256	0.04959	-3.216	0.12677	T	0.08208204089075731	0.04303	0.064	0.01762	B	.	.	-0.579733	0.01628	0.113	0.74823135621684544	0.10840	0.01028	0.03857	N	AEFDGBI	0.025846	0.01838	N	-1.83791171747947	0.00459	0.01974575	-1.83918489512921	0.00641	0.02852158	0.980657301027315	0.30161	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.66	-7.45	0.01229	-0.032000	0.12217	-3.274000	0.02915	-0.773000	0.03420	0.049000	0.21372	0.000000	0.08366	0.000000	0.00833	0.0:0.2869:0.3329:0.3802	7.727	0.27930	759	0.50631	Folliculin, C-terminal|Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1652.98	33	chr17	17215284	.	C	T	1652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.696;DP=882;ExcessHet=0.0000;FS=0.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-3.490e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:71,66:137:99:1667,0,1706	20	0	1	0
chr17	59064408	59064408	A	-	intronic	TRIM37	.	.	.	Mulibrey nanism, Autosomal recessive	.	3	160	18	1	44	64	0.0588235	.	.	329188	not_specified|not_provided|Mulibrey_nanism_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2284	.	0.3120	0.2552	0.3418	0.3266	0.2628	0.3084	0.3263	0.3404	0.0001921	5	26028	rs367700401	0.0985	0.1854	0.0961	0.1009	0.1579	0.0979	0.0977	0.1538	0.1521	0.0942	0.1579	0.1212	0.1240	0.1151	0.0828	0.0923	0.1014	0.1258	0.0021	0.0042	0.0020	0.0023	0.0026	0.0019	0.0018	0.0022	0.0021	0.0008	0	0.0013	0.0006	0.0006	0.0087	0.0035	0.0026	0.0021	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3870.64	34	chr17	59064407	.	TA	T,TAA	3870.64	.	AC=6,4;AF=0.143,0.095;AN=42;BaseQRankSum=-1.690e-01;DP=1885;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3262;MLEAC=6,4;MLEAF=0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=3.66;ReadPosRankSum=-1.250e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/2:58,6,48:112:99:933,1084,2914,0,1285,1341	11	0	6	0
chr17	80184196	80184196	G	A	exonic	CARD14	.	synonymous SNV	CARD14:NM_001257970:exon4:c.G633A:p.E211E	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	0	505	725	292	0	1309	0.564467	.	.	390302	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3867	0.347045	0.4547	0.4591	0.4132	0.3050	0.5434	0.4586	0.4259	0.4751	0.27294	42197	154602	rs4889990	0.3755	0.3729	0.3740	0.3771	0.4346	0.3747	0.3743	0.4308	0.4292	0.4143	0.2620	0.3677	0.2342	0.3867	0.4186	0.3783	0.3740	0.4346	0.3784	0.3786	0.3796	0.3771	0.4262	0.3758	0.3747	0.4112	0.4091	0.4164	0.3315	0.3063	0.3686	0.2088	0.3755	0.4150	0.3826	0.3685	0.4262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.3095	31734.13	152	chr17	80184196	.	G	A	31734.13	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.398;DP=2527;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2255;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=-3.840e-01;SOR=0.729	GT:AD:DP:GQ:PL	0/1:101,125:226:99:3541,0,2657	9	1	11	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|Psoriasis_2|Pityriasis_rubra_pilaris	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	58196.26	104	chr17	80184264	.	G	A	58196.26	.	AC=33;AF=0.786;AN=42;BaseQRankSum=0.515;DP=2582;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=33;MLEAF=0.786;MQ=60.00;MQRankSum=0.00;QD=23.56;ReadPosRankSum=0.827;SOR=0.756	GT:AD:DP:GQ:PL	0/1:79,99:178:99:2873,0,1991	0	12	9	0
chr18	31388386	31388386	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon4:c.C236T:p.S79L	Hypotrichosis 6, Autosomal recessive	.	1	1486	35	0	0	35	0.0116395	.	.	715937	not_provided|DSG4-related_disorder|Hypotrichosis_6	MedGen:C3661900|.|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.054	B	0.046	B	0.727	N	1.000	N	1.28	L	0.74	T	-0.961	T	0.073	T	0.083	-0.082	3.600	-1.72	-0.177	-0.768	6.536	0.010	.	0.0048	0.00439297	0.0042	0.0046	0.0027	0	0	0.0051	0.0044	0.0053	0.0040297	623	154602	rs36040686	0.0032	0.0032	0.0030	0.0033	0.0191	0.0031	0.0031	0.0162	0.0151	0.0050	0.0033	0.0436	0	0.0003	0.0191	0.0020	0.0065	0.0048	0.0038	0.0038	0.0039	0.0037	0.0060	0.0035	0.0034	0.0043	0.0037	0.0031	0	0.0042	0.0542	0	0.0004	0.0340	0.0021	0.0057	0.0060	0.264	0.16358	T	0.155	0.31936	T	0.054	0.22658	B	0.046	0.24676	B	0.727362	0.06349	N	1.212930	0.999999	0.08975	N	0.915	0.23335	L	0.74	0.50459	T	-1.75	0.41428	N	0.107	0.10340	-0.9614	0.38916	T	0.073	0.29675	T	10	0.0033466518	0.00058	T	.	.	.	0.010	0.01040	.	.	0.276898752692	0.27294	0.13389012196261588	0.13313	0.029762402894	0.03065	0.298493921757	0.10177	T	0.108723	0.42200	T	-0.647278	0.00075	T	-0.698542	0.05906	T	0.00208938657306135	0.00022	T	0.162684	0.01721	T	0.038331885	0.05086	0.049947403	0.07739	0.03988346	0.05589	0.039548468	0.04072	-2.372	0.04964	T	.	.	0.072	0.07224	B	.;.	.;.	-0.453279	0.02022	0.181	0.92623994699646028	0.22094	0.01138	0.04130	N	AEFI	0.026801	0.02075	N	-1.0116172173723	0.08362	0.3917972	-1.0389198890453	0.08939	0.4420613	0.00372337501722856	0.10253	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.73	-1.72	0.07671	-1.225000	0.03066	-3.198000	0.02978	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1368:0.358:0.0:0.5052	6.536	0.21550	643	0.63827	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2049.11	39	chr18	31388386	.	C	T	2049.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.76;DP=888;ExcessHet=0.1072;FS=4.314;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=1.23;SOR=1.023	GT:AD:DP:GQ:PL	0/1:68,39:107:99:896,0,1826	19	0	2	0
chr18	31399464	31399464	G	A	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon9:c.G1198A:p.G400R	Hypotrichosis 6, Autosomal recessive	.	0	1484	38	0	0	38	0.0126414	.	.	576181	Hypotrichosis_6|not_provided|DSG4-related_disorder	MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.52	T	1.0	D	0.992	D	0.077	N	0.940	D	1.06	L	0.35	T	-0.826	T	0.188	T	0.848	1.657	11.50	5.33	2.649	3.133	12.717	0.179	.	0.0050	0.00439297	0.0043	0.0046	0.0027	0	0	0.0052	0.0044	0.0058	0.0040685	629	154602	rs35378785	0.0033	0.0033	0.0031	0.0034	0.0203	0.0032	0.0032	0.0173	0.0162	0.0051	0.0033	0.0435	0	0.0003	0.0203	0.0021	0.0067	0.0055	0.0039	0.0039	0.0039	0.0039	0.0068	0.0036	0.0035	0.0050	0.0044	0.0031	0	0.0042	0.0541	0	0.0004	0.0408	0.0022	0.0057	0.0068	0.74	0.03696	T	0.19	0.28860	T	0.531	0.90584	P	0.247	0.80445	B	0.077327	0.21110	N	0.246143	0.939708	0.37270	D	0.495	0.13372	N	0.35	0.59037	T	-0.51	0.15986	N	0.689	0.69474	-0.8261	0.53550	T	0.188	0.53827	T	10	0.0041315258	0.00081	T	.	.	.	0.179	0.44899	0.414	0.45216	0.800236202846	0.79837	0.3010113199831233	0.30014	0.252222878455	0.27793	0.465308904648	0.34037	T	0.102842	0.41094	T	-0.180223	0.23702	T	-0.0276499	0.68524	D	0.0494035485741406	0.05395	T	0.692831	0.31596	T	0.10689115	0.25275	0.13068023	0.31396	0.097276576	0.22927	0.090244345	0.21151	-7.606	0.58353	D	.	.	0.346	0.56311	A	.;.	.;.	2.539861	0.32855	19.17	0.9951036776297365	0.68618	0.73441	0.35924	D	AEFDGBCI	0.203974	0.33044	N	0.267983728041288	0.54534	3.618692	0.339373258754207	0.57870	3.954535	0.999999994021206	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	3.309000	0.51613	2.699000	0.34147	0.676000	0.76740	0.291000	0.25242	1.000000	0.68203	0.979000	0.57723	0.0758:0.0:0.9242:0.0	12.717	0.56492	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4946.11	33	chr18	31399464	.	G	A	4946.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.050e-01;DP=1063;ExcessHet=0.1072;FS=2.654;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-1.356e+00;SOR=0.837	GT:AD:DP:GQ:PL	0/1:114,95:209:99:2368,0,3110	19	0	2	0
chr18	57580222	57580222	G	A	intronic	FECH	.	.	.	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	.	2	910	527	83	0	693	0.275766	.	.	15589	Protoporphyria,_erythropoietic,_1|Jaundice|Erythema|not_provided	MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2588	0.334665	0.2467	0.4468	0.4373	0.3093	0.2329	0.1736	0.2174	0.2577	0.238063	36805	154602	rs2269219	0.1942	0.1944	0.1942	0.1942	0.4542	0.1936	0.1934	0.4482	0.4457	0.4542	0.3983	0.2246	0.3662	0.2313	0.2387	0.1638	0.2062	0.2567	0.2741	0.2744	0.2705	0.2778	0.4470	0.2719	0.2710	0.4416	0.4394	0.4470	0.0822	0.3025	0.2145	0.3240	0.2456	0.3027	0.1704	0.2623	0.2512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	7371.28	36	chr18	57580222	.	G	A	7371.28	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-1.898e+00;DP=793;ExcessHet=2.2868;FS=2.069;InbreedingCoeff=-0.1085;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=18.71;ReadPosRankSum=0.174;SOR=0.832	GT:AD:DP:GQ:PL	0/1:15,26:41:99:713,0,383	11	1	9	0
chr19	8906310	8906310	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.G38009C:p.S12670T,	.	YES	426	1063	32	1	0	34	0.0157407	.	.	2752290	Ovarian_cancer	MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	.	.	-1.7	N	4.57	T	-0.910	T	0.002	T	0.051	-0.075	3.636	-1.23	-0.748	-0.381	0.617	0.053	0.00246779091888	.	0.000199681	1.681e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs565425582	1.644e-05	2.941e-05	1.772e-05	1.514e-05	2.52e-05	1.112e-05	9.34e-06	1.296e-05	1.107e-05	0	2.242e-05	0	2.52e-05	0	0	1.98e-05	0	0	4.176e-05	0.0026	5.432e-05	2.855e-05	0.0001	1.799e-05	1.184e-05	3.51e-05	2.123e-05	0.0001	0	0	0	0	0	0	3.066e-05	0	0	1.0	0.00964	T	0.139	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	1.25	0.01011	N	0.113	0.10056	-0.9100	0.46854	T	0.002	0.00676	T	8	0.033523023	0.01532	T	0.002468	0.04896	T	0.053	0.14996	0.176	0.08257	0.0297737177859	0.01360	0.07544984530033015	0.07480	.	.	0.284053891897	0.08063	T	.	.	.	-0.547718	0.00301	T	-0.842388	0.01063	T	0.0276999553474265	0.01645	T	0.143886	0.01170	T	.	.	.	.	.	.	.	.	-0.597	0.00646	T	.	.	0.062	0.01215	B	.	.	0.261277	0.06395	2.864	0.32924370785203677	0.01934	0.00006	0.00120	N	AEFBI	0.008428	0.00039	N	-1.59481043750724	0.01290	0.05618882	-1.61343246278626	0.01576	0.07143936	1.53118084225164E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-1.23	0.08977	-0.346000	0.07809	.	.	-1.191000	0.01374	0.001000	0.13787	0.000000	0.08366	0.091000	0.17840	0.1779:0.2378:0.3437:0.2407	0.617	0.00722	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	379.11	110	chr19	8906310	.	C	G	379.11	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-9.420e-01;DP=1797;ExcessHet=0.0000;FS=12.219;InbreedingCoeff=-0.0646;MLEAC=1;MLEAF=0.028;MQ=58.80;MQRankSum=-1.042e+01;QD=2.73;ReadPosRankSum=-1.122e+00;SOR=0.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,18:139:99:0|1:8906306_G_A:392,0,5023:8906306	17	0	1	3
chr19	36058882	36058882	A	-	intronic	WDR62	.	.	.	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Autosomal recessive	.	0	1432	86	4	0	94	0.0317782	.	.	208567	not_provided|Primary_Microcephaly_2_With_or_Without_Cortical_Malformations|not_specified	MedGen:C3661900|MedGen:CN239163|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00738818	0.0110	0.0005	0.0034	0.0003	0.0020	0.0083	0.0159	0.0421	0.0017673	46	26028	rs1233577369	0.0081	0.0081	0.0069	0.0092	0.0400	0.0079	0.0079	0.0389	0.0385	0.0012	0.0033	0.0247	0.0002	0.0024	0.0208	0.0060	0.0094	0.0400	0.0056	0.0056	0.0050	0.0062	0.0418	0.0053	0.0052	0.0371	0.0353	0.0007	0	0.0031	0.0268	0	0.0016	0.0204	0.0065	0.0099	0.0418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3111.94	34	chr19	36058881	.	TA	T	3111.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.760e-01;DP=935;ExcessHet=0.0000;FS=2.472;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.21;ReadPosRankSum=-7.340e-01;SOR=0.537	GT:AD:DP:GQ:PL	0/1:93,99:192:99:3126,0,2896	20	0	1	0
chr19	45546826	45546826	C	T	UTR3	OPA3	NM_025136:c.*6688G>A	.	.	3-methylglutaconic aciduria, type III, Autosomal recessive;Optic atrophy 3 with cataract, Autosomal dominant	.	1161	359	0	2	0	4	0.00554017	.	.	349097	3-Methylglutaconic_aciduria_type_3|Optic_atrophy_3	MONDO:MONDO:0009787,MedGen:C0574084,OMIM:258501,Orphanet:67047|MONDO:MONDO:0008133,MedGen:C1833809,OMIM:165300,Orphanet:67036	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.00146	38	26028	rs181576269	0	8.744e-05	0	0	.	0	0	.	.	.	.	.	.	0	.	0	.	.	0.0014	0.0014	0.0013	0.0014	0.0025	0.0012	0.0012	0.0016	0.0015	0.0004	0.0252	0.0013	0	0	0.0004	0	0.0019	0.0024	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	70.62	2	chr19	45546826	.	C	T	70.62	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.319;DP=30;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1277;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=17.66;ReadPosRankSum=0.319;SOR=0.446	GT:AD:DP:GQ:PL	0/1:1,3:4:13:79,0,13	14	0	1	6
chr19	55156279	55156279	C	A	exonic	TNNI3	.	unknown	UNKNOWN,	Cardiomyopathy, dilated, 1FF;Cardiomyopathy, familial restrictive, 1, Autosomal dominant;Cardiomyopathy, hypertrophic, 7, Autosomal dominant	YES	0	1410	107	5	0	117	0.0398366	.	.	52536	Dilated_cardiomyopathy_2A|not_provided|Cardiomyopathy,_familial_restrictive,_1|Hypertrophic_cardiomyopathy_7|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Hypertrophic_cardiomyopathy|Primary_ciliary_dyskinesia|Cardiomyopathy|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154|MedGen:C3661900|MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249|MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690|MedGen:CN239247|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0368	0.0227636	0.0461	0.0086	0.0151	0	0.0951	0.0649	0.0406	0.0236	0.0365713	5654	154602	rs3729711	0.0501	0.0501	0.0504	0.0497	0.0559	0.0498	0.0496	0.0555	0.0553	0.0078	0.0183	0.0422	0.0002	0.0792	0.0328	0.0559	0.0440	0.0215	0.0392	0.0392	0.0389	0.0395	0.0567	0.0384	0.0380	0.0552	0.0546	0.0089	0.1217	0.0314	0.0380	0.0002	0.0809	0.0408	0.0567	0.0313	0.0176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021397173	0.00031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.366501	0.03775	T	-0.257494	0.49073	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.50880	B	.	.	1.057261	0.14390	10.96	0.93413201715812977	0.23177	0.65600	0.32792	D	AEFDBHCI	0.472690	0.51769	N	.	.	.	.	.	.	0.999994663260938	0.74766	0.72623	0.87236	0	0.578056	0.33634	0	0.594344	0.31042	0	0.620976	0.48614	0	.	.	4.42	2.15	0.26590	0.100000	0.15067	-0.636000	0.08101	0.599000	0.40250	0.072000	0.22128	0.018000	0.20648	0.993000	0.69303	0.354:0.4448:0.0:0.2012	3.418	0.06954	988	0.01987	.	PPP6R1|TMEM86B	Esophagus_Mucosa|Thyroid	.	.	rs3729711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3754.11	34	chr19	55156279	.	C	A	3754.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.083e+00;DP=1039;ExcessHet=0.1072;FS=1.914;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=1.06;SOR=0.818	GT:AD:DP:GQ:PL	0/1:88,80:168:99:2039,0,2428	19	0	2	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	.	212	501	433	376	0	1185	0.541838	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	3412.19	6	chr20	44429378	.	T	C	3412.19	.	AC=25;AF=0.658;AN=38;BaseQRankSum=0.508;DP=206;ExcessHet=0.3394;FS=7.051;InbreedingCoeff=0.0621;MLEAC=26;MLEAF=0.684;MQ=60.00;MQRankSum=0.00;QD=18.25;ReadPosRankSum=0.00;SOR=1.306	GT:AD:DP:GQ:PL	1/1:0,5:5:15:207,15,0	3	9	7	2
chr20	54158096	54158096	A	G	exonic	CYP24A1	.	nonsynonymous SNV	CYP24A1:NM_000782:exon9:c.T1226C:p.L409S	Hypercalcemia, infantile, 1, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	38635	Hypercalcemia,_infantile,_1|not_provided|CYP24A1-related_disorder	MONDO:MONDO:0020739,MedGen:C4310232,OMIM:143880,Orphanet:300547|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.825	M	4.76	T	0.582	D	0.706	D	0.894	4.182	21.7	5.3	2.125	8.790	14.728	0.521	0.272288493536	0.0013	0.000199681	0.0007	0.0004	0.0003	0	0	0.0012	0	6.075e-05	0.000815	126	154602	rs6068812	0.0018	0.0018	0.0019	0.0018	0.0023	0.0018	0.0018	0.0022	0.0022	0.0004	0.0005	0.0005	0	0	0.0003	0.0023	0.0011	8.115e-05	0.0008	0.0008	0.0008	0.0007	0.0014	0.0007	0.0006	0.0012	0.0011	0.0004	0	0.0003	0.0006	0	0	0	0.0014	0.0005	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000024	0.55875	D	0.066212	0.999884	0.50402	D	2.125	0.59049	M	-0.33	0.81478	T	-3.74	0.71042	D	0.928	0.94196	0.582	0.91667	D	0.706	0.89874	D	10	0.4714062	0.59884	T	0.272288	0.89925	D	0.521	0.79643	.	.	0.972374892747	0.97207	0.9550790508331022	0.95492	0.443632335628	0.44285	0.619048416615	0.55595	T	0.787076	0.94432	D	0.0523363	0.58644	T	0.29841	0.88124	D	0.103153262518355	0.12700	T	0.893711	0.63166	D	0.9299575	0.94232	0.90004873	0.94979	0.93790287	0.95034	0.8652603	0.92540	-11.487	0.82262	D	.	.	0.902	0.86166	P	.;.;.	.;.;.	5.185675	0.86954	29.1	0.99871574663690699	0.94902	0.98227	0.80721	D	AEFDBCI	0.816900	0.73851	D	0.862258025404156	0.89795	10.12064	0.802232955726701	0.89948	10.18998	0.999999999999684	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	8.617000	0.90710	11.258000	0.90976	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	14.728	0.68975	959	0.08690	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	974.98	42	chr20	54158096	.	A	G	974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.533;DP=858;ExcessHet=0.0000;FS=2.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=1.26;SOR=0.440	GT:AD:DP:GQ:PL	0/1:45,42:87:99:989,0,1074	20	0	1	0
chr21	33432890	33432890	C	-	intronic	IFNGR2	.	.	.	Immunodeficiency 28, mycobacteriosis, Autosomal recessive	.	196	1271	52	1	2	56	0.0208012	.	.	45040	not_provided|Immunodeficiency_28|Interferon_gamma_receptor_deficiency	MedGen:C3661900|MONDO:MONDO:0013953,MedGen:C4013947,OMIM:614889,Orphanet:319547,Orphanet:319574|MedGen:C1112429	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3572	.	0.0604	0.0666	0.1064	0.0634	0.0565	0.0608	0.0652	0.0408	0.0002305	6	26028	rs193922682	0.0499	0.0914	0.0513	0.0485	0.0679	0.0495	0.0494	0.0656	0.0646	0.0576	0.0679	0.0348	0.0466	0.0438	0.0377	0.0518	0.0505	0.0250	0.0006	0.0013	0.0005	0.0008	0.0006	0.0005	0.0005	0.0005	0.0004	0.0002	0	0.0005	0	0.0006	0.0041	0	0.0006	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	149.2	31	chr21	33432889	.	TC	T	149.2	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.26;DP=908;ExcessHet=0.6776;FS=0.732;InbreedingCoeff=-0.1044;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=1.08;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,8:38:94:0|1:33432889_TC_T:94,0,736:33432889	17	0	4	0
chr21	46112374	46112374	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon3:c.G511A:p.G171R	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	1	1516	4	1	0	6	0.00197498	.	.	266421	COL6A2-related_disorder|Tip-toe_gait|not_provided|Bethlem_myopathy_1A|Myosclerosis|Collagen_6-related_myopathy	.|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0009714,MedGen:C1850671,OMIM:255600,Orphanet:289380|MONDO:MONDO:0100225,MedGen:CN117976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	1.0	D	1.0	D	0.000	D	1.000	D	2.08	M	-1.17	T	0.292	D	0.602	D	0.452	3.166	16.59	4.34	2.142	3.490	17.236	0.589	0.351088878635	0.0006	0.000599042	0.0011	0.0001	0.0005	0	0	0.0013	0	0.0021	0.000925	143	154602	rs200710788	0.0013	0.0013	0.0013	0.0013	0.0019	0.0012	0.0012	0.0016	0.0015	0.0004	0.0004	0.0020	2.525e-05	0.0001	0.0007	0.0014	0.0013	0.0019	0.0012	0.0012	0.0013	0.0010	0.0021	0.0010	0.0010	0.0018	0.0017	0.0004	0	0.0003	0.0035	0	0	0	0.0021	0	0.0010	0.001	0.78490	D	0.003	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.056517	1	0.81001	D	1.995	0.54099	M	-1.17	0.78199	T	-6.28	0.94988	D	0.482	0.54322	0.292	0.87433	D	0.602	0.85859	D	10	0.044142783	0.03338	T	0.351089	0.92270	D	0.589	0.83582	0.6	0.73105	0.934347342465	0.93367	0.8987093180575472	0.89842	0.507590868077	0.48939	0.575448870659	0.49445	T	0.574699	0.85976	D	-0.249479	0.14161	T	-0.137612	0.60324	T	0.0637714937539241	0.07748	T	0.924508	0.72366	D	0.7780999	0.82538	0.63723415	0.78817	0.77080023	0.82098	0.66911036	0.80590	-15.613	0.97122	D	0.3502189139601803	0.44748	0.224	0.61373	B	.;.;.;.;.	.;.;.;.;.	5.183434	0.86912	29.1	0.99769818939416133	0.85834	0.94191	0.60389	D	AEFDBI	0.670721	0.63771	D	0.557634977708968	0.70549	5.517729	0.493640458030972	0.67565	5.101422	0.999999974029864	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.34	4.34	0.51267	2.403000	0.44184	9.599000	0.81062	0.618000	0.50648	0.999000	0.42656	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.236	0.86883	976	0.04745	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1215.98	36	chr21	46112374	.	G	A	1215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.99;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.48;ReadPosRankSum=0.434;SOR=0.664	GT:AD:DP:GQ:PL	0/1:41,43:84:99:1230,0,905	20	0	1	0
chr22	18918451	18918451	C	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon11:c.G968A:p.R323H	.	YES	1	1322	185	14	0	213	0.0745537	.	.	19050	Schizophrenia_4|Proline_dehydrogenase_deficiency	MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.996	D	0.87	P	0.000	N	0.999	D	2.34	M	1.31	T	-1.182	T	0.006	T	0.184	3.914	19.91	1.16	0.474	1.178	8.739	0.145	.	0.0816	0.0429313	0.0794	0.0387	0.0503	0.0009	0.0537	0.1113	0.0870	0.0471	0.0744363	11508	154602	rs2904552	0.1027	0.1011	0.1062	0.0995	0.1480	0.1014	0.1009	0.1458	0.1449	0.0328	0.0685	0.1381	0.0006	0.0682	0.1018	0.1480	0.1109	0.0519	0.0509	0.0963	0.0519	0.0496	0.0957	0.0460	0.0441	0.0841	0.0797	0.0216	0.5000	0.0466	0.0789	0	0.0414	0.0370	0.0957	0.0625	0.0271	0.004	0.65419	D	0.032	0.53426	D	0.945	0.53279	P	0.408	0.44733	B	0.000345	0.45440	N	0.229694	0.999478	0.47197	A	.	.	.	1.31	0.35405	T	-3.25	0.66206	D	0.158	0.20129	-1.1817	0.00345	T	0.006	0.01981	T	10	0.0036971867	0.00068	T	.	.	.	0.145	0.38592	.	.	.	.	0.6217227933177322	0.62105	0.435677157202	0.43665	0.409796655178	0.26428	T	0.083212	0.37003	T	-0.547933	0.00300	T	-0.463128	0.26258	T	0.0329422262464058	0.02462	T	0.885311	0.61048	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.06525	B	.;.;.;.	.;.;.;.	2.691791	0.35142	19.82	0.99849403335407028	0.92925	0.80218	0.39914	D	AEFDGBI	0.380323	0.46301	N	0.0207175707020348	0.42797	2.585497	-0.030060004355919	0.38363	2.259183	0.940988181924042	0.27456	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.49	1.16	0.19936	1.447000	0.34712	0.795000	0.21604	-0.775000	0.03392	1.000000	0.71638	0.999000	0.35428	0.015000	0.10482	0.0:0.7169:0.0:0.2831	8.739	0.33706	923	0.18507	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain	.	.	.	.	rs2904552	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	0.1429	8091.03	33	chr22	18918451	.	C	T	8091.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.180;DP=1233;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=57.11;MQRankSum=-4.149e+00;QD=13.11;ReadPosRankSum=0.895;SOR=0.691	GT:AD:DP:GQ:PL	0/1:50,66:116:99:1652,0,1146	15	0	6	0
chr22	19516590	19516590	G	A	exonic	CDC45	.	nonsynonymous SNV	CDC45:NM_001178011:exon15:c.G1366A:p.G456S	Meier-Gorlin syndrome 7, Autosomal recessive	.	431	1086	5	0	0	5	0.00229674	.	.	1901405	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.995	D	0.000	N	1.000	D	2.25	M	1.81	T	-0.906	T	0.145	T	0.313	3.764	19.11	3.2	1.230	6.404	10.961	0.295	0.038553795521	0.0002	0.000199681	0.0003	9.636e-05	0	0	0.0006	0.0002	0	0.0013	0.0002587	40	154602	rs139956849	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0008	2.987e-05	4.472e-05	0	2.519e-05	0.0004	0.0002	0.0001	0.0003	0.0010	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	9.238e-05	0.0004	0.0003	4.816e-05	0	6.539e-05	0	0	0.0004	0	0.0002	0	0.0010	0.012	0.54683	D	0.019	0.60337	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	N	0.050315	1	0.81001	D	2.91	0.84121	M	1.81	0.25182	T	-3.86	0.73893	D	0.473	0.59478	-0.9058	0.47355	T	0.145	0.46805	T	10	0.0836153	0.13928	T	0.038554	0.58293	D	0.295	0.61502	.	.	0.656001370146	0.65313	0.7486587494418944	0.74811	0.469475219527	0.46252	0.51724088192	0.41237	T	0.251709	0.62199	T	-0.361607	0.04040	T	-0.34264	0.40044	T	0.535273909568787	0.33929	D	0.89771	0.64209	D	0.47780564	0.65767	0.27336875	0.53256	0.47680616	0.65707	0.34280494	0.60000	-5.307	0.43381	T	0.4309286689160444	0.51807	0.133	0.38462	B	.;.;.;.	.;.;.;.	4.389309	0.67730	25.1	0.9979190409378782	0.87750	0.93122	0.57384	D	AEFDBHCI	0.688219	0.64930	D	0.517127105115044	0.68102	5.171278	0.42127089900502	0.62891	4.512589	0.999999970770493	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.29	3.2	0.35826	6.518000	0.73673	8.502000	0.77362	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.1514:0.0:0.8486:0.0	10.961	0.46596	697	0.58201	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1185.98	36	chr22	19516590	.	G	A	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.190e-01;DP=850;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=-3.650e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1200,0,1644	20	0	1	0
chr22	41926712	41926712	G	C	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon1:c.C62G:p.P21R,	Immunodeficiency, common variable, 4, Autosomal recessive	.	15	1338	155	14	0	183	0.0640084	.	.	351721	Immunodeficiency,_common_variable,_4|not_provided	MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.177	B	0.075	B	0.055	N	1.000	P	0.345	N	1.53	T	-1.063	T	0.003	T	0.069	1.650	11.47	0.119	-0.044	0.155	5.210	0.026	.	0.0228	0.0445288	0.0680	0.0278	0.0143	0.0192	.	0.0675	0.075	0.0707	0.0156208	2415	154602	rs77874543	0.0757	0.0701	0.0763	0.0751	0.0807	0.0753	0.0751	0.0803	0.0801	0.0105	0.0430	0.0485	0.0477	0.0840	0.0523	0.0807	0.0666	0.0610	0.0559	0.0559	0.0562	0.0556	0.0794	0.0549	0.0545	0.0777	0.0769	0.0136	0.0418	0.0572	0.0446	0.0429	0.0777	0.0345	0.0794	0.0587	0.0606	0.269	0.16091	T	0.331	0.18505	T	0.177	0.28923	B	0.075	0.28327	B	0.055018	0.02067	N	2.146310	1	0.08975	P	0.55	0.14455	N	1.53	0.30401	T	-1.69	0.40274	N	0.032	0.00825	-1.0627	0.11093	T	0.003	0.00961	T	9	0.002217114	0.00032	T	.	.	.	0.026	0.05648	.	.	.	.	0.04705350402181684	0.04648	1.2817330372	0.82558	0.726921379566	0.71056	T	0.256713	0.62766	T	-0.726849	0.00025	T	-0.752614	0.03385	T	0.000626430001430001	0.00006	T	0.325267	0.06676	T	0.12616447	0.29558	0.09551607	0.22656	0.12616447	0.29558	0.09551607	0.22655	-4.891	0.35633	T	0.19346262128255112	0.25457	0.065	0.01960	B	.	.	1.243087	0.16388	12.51	0.73759748228903677	0.10445	0.07539	0.13553	N	ALL	0.051617	0.09136	N	-1.01591527802177	0.08273	0.3873328	-1.06527188759641	0.08392	0.4124026	0.999999997465868	0.74766	0.56387	0.32371	0	0.52208	0.09955	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.67	0.119	0.13989	-0.668000	0.05369	-0.744000	0.07606	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.278000	0.23967	0.1662:0.0:0.4361:0.3977	5.210	0.14633	130	0.94779	Tumour necrosis factor receptor 13C, TALL-1 binding domain	NAGA|SMDT1|NDUFA6-AS1|CYP2D7|SMDT1|NDUFA6-AS1|RP4-669P10.20|TNFRSF13C|SMDT1|SMDT1|NAGA|SMDT1|SMDT1|SMDT1|NDUFA6-AS1|RP4-669P10.20|CYP2D7|SMDT1|NDUFA6-AS1|RP4-669P10.19|RP4-669P10.20|CYP2D7|CYP2D7|CYP2D7|SMDT1|RP4-669P10.20|CYP2D7|TNFRSF13C|FAM109B|SMDT1|TNFRSF13C|SMDT1|NDUFA6-AS1|SMDT1|NDUFA6-AS1|CYP2D6|RP4-669P10.20|CYP2D7|SMDT1|CENPM|SMDT1|CYP2D6|CYP2D7|SMDT1|NAGA|RP4-669P10.19|NAGA|SMDT1|SEPT3|SMDT1|NDUFA6-AS1|RP4-669P10.20|CYP2D7|NAGA|SMDT1|RP4-669P10.19|RP4-669P10.20|EP300|NAGA|SMDT1|NDUFA6-AS1|RP4-669P10.19|RP4-669P10.20|CYP2D7|SMDT1|SMDT1|SMDT1|CYP2D7|SMDT1|NDUFA6-AS1|ACO2|CENPM|NAGA|SMDT1|NDUFA6-AS1|CYP2D6|CYP2D7|CYP2D8P|CENPM|NAGA|SMDT1|CYP2D6|CYP2D7|CYP2D8P|SMDT1|RP4-669P10.20|TNFRSF13C|SMDT1|SMDT1|NDUFA6-AS1|TNFRSF13C|SMDT1|RP4-669P10.20|CYP2D7|NAGA|SMDT1|NDUFA6-AS1|OLA1P1|CYP2D6|RP4-669P10.20|CYP2D7|CYP2D8P|SMDT1|DESI1|SMDT1|CYP2D6|CYP2D7|CYP2D8P	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|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|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|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|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood	CYP2D6|CYP2D6|CYP2D7|NDUFA6-AS1|CYP2D6|CYP2D7|NDUFA6-AS1|NDUFA6-AS1|CYP2D6|CYP2D7|NDUFA6-AS1|NDUFA6-AS1|NDUFA6-AS1|CYP2D6|CYP2D7|CYP2D6|CYP2D7|NDUFA6-AS1|CYP2D6|CYP2D7|NDUFA6-AS1|NDUFA6-AS1|NDUFA6-AS1|CYP2D7|SREBF2|CYP2D6|CYP2D7|SREBF2|CYP2D6|CYP2D7|CYP2D6|CYP2D7|SREBF2|SREBF2|CYP2D6|CYP2D7|CYP2D6|CYP2D7|NDUFA6-AS1|SREBF2|CYP2D6|CYP2D7	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Hippocampus|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Liver|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Pituitary|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|Testis|Whole_Blood|Whole_Blood|Whole_Blood	rs77874543	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.09524	552.92	31	chr22	41926712	.	G	C	552.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.911;DP=594;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1052;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=5.37;ReadPosRankSum=0.139;SOR=0.720	GT:AD:DP:GQ:PL	0/1:16,11:27:99:216,0,338	17	0	4	0
chr22	43928847	43928847	C	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon3:c.C444G:p.I148M,	.	.	418	622	397	85	0	567	0.313087	.	.	352627	NAFLD1|Hepatic_steatosis|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.03	D	0.994	D	0.944	D	0.016	N	0.000	P	3.265	M	-1.41	T	-1.028	T	0.000	T	0.209	1.841	12.12	-1.97	-0.125	-0.914	6.383	0.339	.	0.1953	0.262181	0.2632	0.1376	0.5723	0.3785	0.2262	0.2293	0.2687	0.2174	0.255825	39551	154602	rs738409	0.2325	0.2339	0.2333	0.2317	0.5358	0.2319	0.2316	0.5301	0.5278	0.1320	0.5358	0.2180	0.4180	0.2272	0.2696	0.2179	0.2294	0.2237	0.2281	0.2285	0.2230	0.2335	0.4235	0.2261	0.2253	0.4148	0.4113	0.1395	0.2720	0.4235	0.2111	0.3866	0.2201	0.2483	0.2262	0.2624	0.2372	0.054	0.38633	T	0.003	0.76473	D	0.994	0.66517	D	0.944	0.68059	D	0.016391	0.27990	N	0.316000	0.000289165	0.48481	P	3.045	0.86684	M	-1.41	0.80560	T	-2.57	0.55501	D	0.173	0.18512	-1.0285	0.20940	T	0.000	0.00011	T	9	0.0025928915	0.00039	T	.	.	.	0.339	0.66106	.	.	.	.	0.6869485544173306	0.68634	0.503164557005	0.48655	0.487125337124	0.37040	T	0.29702	0.66963	T	-0.485539	0.00687	T	-0.326399	0.41867	T	0.0306719473680774	0.02094	T	0.692831	0.33234	T	0.40859076	0.61323	0.35764056	0.61255	0.40859076	0.61324	0.35764056	0.61254	-9.124	0.68491	D	.	.	0.329	0.55166	B	.;.	.;.	1.374372	0.17849	13.40	0.99302197316743868	0.58686	0.52933	0.29250	D	AEFBCI	0.108930	0.21653	N	-0.255780834863084	0.30874	1.725634	-0.533311740709871	0.21251	1.14871	0.99975902258671	0.42595	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.7	-1.97	0.07091	-1.142000	0.03314	-1.110000	0.06300	-0.176000	0.10722	0.009000	0.18154	0.001000	0.17328	0.035000	0.13729	0.0:0.4064:0.2195:0.3741	6.383	0.20749	855	0.34697	Patatin-like phospholipase domain|Patatin-like phospholipase domain;.	SAMM50|SAMM50|SAMM50|PNPLA3|PNPLA3	Adipose_Subcutaneous|Breast_Mammary_Tissue|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	SAMM50|SAMM50|SAMM50|PNPLA3|SAMM50	Artery_Tibial|Colon_Sigmoid|Prostate|Skin_Sun_Exposed_Lower_leg|Testis	rs738409	Uncertain significance	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.3571	34134.34	43	chr22	43928847	.	C	G	34134.34	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.62;DP=2033;ExcessHet=3.1640;FS=0.521;InbreedingCoeff=-0.1407;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=20.50;ReadPosRankSum=0.110;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,75:156:99:0|1:43928847_C_G:2885,0,3138:43928847	8	2	11	0
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E,	.	.	425	173	454	470	0	1394	0.801149	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	0.000	N	1.000	P	0	N	1.36	T	-0.993	T	0.000	T	0.017	-1.344	0.030	-5.47	-1.617	-2.202	1.474	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.6905	60939.29	38	chr22	43946236	.	A	G	60939.29	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.056e+00;DP=2777;ExcessHet=0.0158;FS=0.717;InbreedingCoeff=0.4430;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=24.07;ReadPosRankSum=0.942;SOR=0.789	GT:AD:DP:GQ:PL	1/1:0,174:174:99:5171,520,0	4	12	5	0
chrX	49208567	49208567	T	C	exonic	CACNA1F	.	nonsynonymous SNV	CACNA1F:NM_001256789:exon43:c.A5071G:p.T1691A	Aland Island eye disease, X-linked;Cone-rod dystrophy, X-linked, 3, X-linked recessive;Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked	.	.	.	.	.	.	.	.	.	.	1503257	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	0.451	N	1.000	N	-0.84	N	-3.79	D	-0.283	T	0.534	D	0.063	-2.018	0.007	-1.79	-0.455	-0.303	9.454	0.238	0.0342588863887	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198251463	4.56e-06	4.553e-06	6.806e-06	0	0.0002	1.34e-06	9.7e-07	2.261e-05	1.226e-05	0	8.53e-05	0	0	0	0.0002	0	2.172e-05	0	9.118e-06	8.743e-06	1.288e-05	0	9.735e-05	0	0	.	.	0	0	9.735e-05	0	0	0	0	0	0	0	0.802	0.03209	T	0.731	0.05146	T	0.0	0.02946	B	0.0	0.01387	B	0.450573	0.04812	N	1.401840	1	0.08975	N	-0.145	0.04423	N	-3.87	0.95922	D	-0.33	0.12472	N	0.053	0.04547	-0.2826	0.75469	T	0.534	0.82762	D	10	0.029898167	0.01116	T	0.034259	0.55552	D	0.238	0.54217	0.157	0.06070	0.376089632046	0.37223	0.27417202825827286	0.27330	0.219439555169	0.24485	0.287760585546	0.08596	T	0.082752	0.36900	T	-0.262632	0.12593	T	-0.502539	0.22085	T	0.00812467811588996	0.00097	T	0.459554	0.13284	T	0.038909934	0.05273	0.05832419	0.10759	0.038909934	0.05272	0.05832419	0.10758	-4.1	0.25290	T	0.06277890335518323	0.01884	0.066	0.02200	B	.;.;.	.;.;.	-0.664715	0.01404	0.082	0.17367538661287538	0.00503	0.00295	0.01577	N	AEFI	.	.	.	.	.	.	.	.	.	0.95327010886663	0.28064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.86	-1.79	0.07504	-0.294000	0.08346	-2.871000	0.03276	-0.206000	0.08541	0.000000	0.06391	0.000000	0.08366	0.251000	0.23288	0.0:0.3272:0.0:0.6728	9.454	0.37907	37	0.98026	.;.;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1756.98	35	chrX	49208567	.	T	C	1756.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=869;ExcessHet=0.0000;FS=3.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=0.968;SOR=0.974	GT:AD:DP:GQ:PL	0/1:96,76:172:99:1771,0,2291	20	0	1	0
chrX	67546515	67546547	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1401del:p.G463_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	1337344	Androgen_resistance_syndrome|Kennedy_disease|AR-related_disorder	MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186626054	0.0006	0.0005	0.0005	0.0007	0.0061	0.0005	0.0005	0.0030	0.0022	0.0025	0.0030	0.0014	0.0004	9.153e-05	0.0061	0.0003	0.0017	0.0010	0.0008	0.0006	0.0007	0.0008	0.0022	0.0006	0.0006	0.0014	0.0011	0.0013	0	0.0022	0.0009	0	0	0	0.0003	0.0009	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,51,0,0,0,0:51:99:.:.:2251,2251,2251,158,158,0,2251,2251,158,2251,2251,2251,158,2251,2251,2251,2251,158,2251,2251,2251,2251,2251,158,2251,2251,2251,2251	11	3	1	0
chrX	154776814	154776816	AAG	-	exonic	DKC1	.	nonframeshift deletion	DKC1:NM_001142463:exon15:c.1477_1479del:p.K500del	Dyskeratosis congenita, X-linked, X-linked recessive	.	1	1335	119	53	14	239	0.0777202	.	.	243783	not_specified|DKC1-related_disorder|Dyskeratosis_congenita,_X-linked|Dyskeratosis_congenita|not_provided	MedGen:CN169374|MONDO:MONDO:0100152,MedGen:CN294808|MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0177	0.0133	0.0335	0.0157	0.0044	0.0166	0.0228	0.0200	0.0019978	52	26028	rs782576893	0.0031	0.0460	0.0041	0.0010	0.0047	0.0030	0.0030	0.0040	0.0038	0.0029	0.0047	0.0148	0.0023	0.0033	0.0019	0.0029	0.0038	0.0010	0.0010	0.0013	0.0009	0.0010	0.0017	0.0008	0.0008	0.0011	0.0009	0.0003	0	0.0017	0.0069	0	0.0002	0	0.0011	0.0027	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3716.36	93	chrX	154776813	.	CAAG	C,CAAGAAG	3716.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=0.985;DP=967;ExcessHet=0.3300;FS=2.012;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-5.560e-01;SOR=0.821	GT:AD:DP:GQ:PL	0/2:39,0,38:77:99:1434,1552,3190,0,1638,1524	18	0	1	0