Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES987	WT	HH	HZ	NC
chr1	1233031	1233031	G	A	exonic	B3GALT6	.	synonymous SNV	B3GALT6:NM_080605:exon1:c.G753A:p.P251P	Ehlers-Danlos syndrome, progeroid type, 2, Autosomal recessive;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, Autosomal recessive	425	1091	5	1	0	7	0.00319781	.	.	.	267606	B3GALT6-related_disorder|not_provided|Ehlers-Danlos_syndrome,_spondylodysplastic_type,_2|Spondyloepimetaphyseal_dysplasia_with_joint_laxity	.|MedGen:C3661900|MONDO:MONDO:0014139,MedGen:C3809210,OMIM:615349,Orphanet:536467,Orphanet:75496|MONDO:MONDO:0019675,MedGen:C0432243,OMIM:PS271640	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0	0	0	0	0.0004	0	0.0001	7.12e-05	11	154602	rs370328225	9.5e-05	0.0001	9.61e-05	9.387e-05	0.0073	8.169e-05	7.627e-05	0.0055	0.0049	3.128e-05	0	0.0004	0	0	0.0073	6.811e-05	0.0001	2.478e-05	0.0001	0.0001	0.0001	0.0001	0.0001	6.506e-05	5.319e-05	7.912e-05	5.996e-05	0	0	0	0.0009	0	0	0.0103	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.007216	0.000000	0.006831	0.006024	0.000000	0.017857	0.006369	0.011538	0.07143	1951.49	158	chr1	1233031	.	G	A	1951.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.111;DP=356;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.551;SOR=0.721	GT:AD:DP:GQ:PL	0/1:73,85:158:99:1962,0,1600	6	0	1	0
chr1	33013400	33013400	-	ATGTC	exonic	AK2	.	frameshift insertion	AK2:NM_001319142:exon5:c.374_375insGACAT:p.I125Mfs*8,AK2:NM_001199199:exon6:c.476_477insGACAT:p.I159Mfs*8,AK2:NM_001319141:exon6:c.500_501insGACAT:p.I167Mfs*8,AK2:NM_001625:exon6:c.500_501insGACAT:p.I167Mfs*8,AK2:NM_013411:exon6:c.500_501insGACAT:p.I167Mfs*8,AK2:NM_001319139:exon7:c.356_357insGACAT:p.I119Mfs*8,AK2:NM_001319140:exon7:c.356_357insGACAT:p.I119Mfs*8	Reticular dysgenesis, Autosomal recessive	0	1503	14	0	5	19	0.00463576	.	.	.	1330892	Severe_combined_immunodeficiency_disease	Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.568e-05	0.0008	2.866e-05	4.277e-05	0.0003	2.771e-05	2.509e-05	0.0002	0.0001	0	0.0003	3.835e-05	0.0002	1.885e-05	0	1.983e-05	3.322e-05	5.817e-05	0	1.313e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	45.42	56	chr1	33013400	.	G	GATGTC	45.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.859;DP=247;ExcessHet=0;FS=1.905;MLEAC=1;MLEAF=0.071;MQ=59.9;MQRankSum=-4.513;QD=0.81;ReadPosRankSum=-3.479;SOR=1.193	GT:AD:DP:GQ:PL	0/1:51,5:56:56:56,0,2126	6	0	1	0
chr1	37708312	37708314	TTC	-	intronic	CDCA8	.	.	.	.	430	656	353	83	0	519	0.283452	.	.	.	1310279	Neutrophil_inclusion_bodies|CDCA8-related_condition|not_specified	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2158	0.364217	0.2783	0.2577	0.4416	0.7111	0.2264	0.1916	0.2695	0.3211	0.0001537	4	26028	rs145033890	0.2126	0.2132	0.2108	0.2144	0.6712	0.2120	0.2117	0.6645	0.6617	0.2510	0.4088	0.2738	0.6712	0.2205	0.2368	0.1761	0.2370	0.3125	0.2412	0.2420	0.2349	0.2479	0.6862	0.2391	0.2383	0.6673	0.6596	0.2534	0.1154	0.3139	0.2784	0.6862	0.2248	0.2021	0.1800	0.2481	0.3272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	9928.09	113	chr1	37708311	.	TTTC	T	9928.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.62;DP=623;ExcessHet=2.5225;FS=0.525;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=0.321;SOR=0.625	GT:AD:DP:GQ:PL	0/1:55,58:113:99:2250,0,2078	3	0	4	0
chr1	42750259	42750259	C	T	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon11:c.G1647A:p.M549I,P3H1:NM_001243246:exon11:c.G1647A:p.M549I,P3H1:NM_022356:exon11:c.G1647A:p.M549I	Osteogenesis imperfecta, type VIII, Autosomal recessive	0	1349	159	14	0	187	0.064818	.	.	.	365254	not_specified|Osteogenesis_imperfecta_type_8|Osteogenesis_Imperfecta,_Recessive	MedGen:CN169374|MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.028	.	0.0623	0.057508	0.0719	0.0267	0.0355	0.0424	0.0858	0.0810	0.0648	0.0991	0.0700832	10835	154602	rs11581921	0.0779	0.0779	0.0772	0.0786	0.0905	0.0775	0.0774	0.0888	0.0881	0.0223	0.0398	0.0271	0.0383	0.0773	0.0454	0.0835	0.0687	0.0905	0.0602	0.0604	0.0601	0.0603	0.0944	0.0592	0.0587	0.0873	0.0844	0.0253	0.0647	0.0576	0.0259	0.0431	0.0785	0.0374	0.0797	0.0659	0.0944	0.404	0.15354	T	0.447	0.13066	T	0.008	0.15535	B	0.01	0.14941	B	0.000622	0.42799	N	0.244651	0.886722	0.27954	N	-0.805	0.01590	N	1.09	0.39223	T	0.64	0.02368	N	0.142	0.14196	-1.1055	0.03486	T	0.003	0.00961	T	10	0.0016106963	0.00019	T	.	.	.	0.028	0.06331	0.364	0.37036	.	.	0.5434565235910352	0.54271	0.209664287682	0.23441	0.454124242067	0.32508	T	0.049955	0.28457	T	-0.578798	0.00196	T	-0.532112	0.19077	T	0.00892420019926719	0.00111	T	0.791621	0.44736	T	0.07865807	0.17925	0.05993935	0.11332	0.06477003	0.13774	0.051074196	0.08146	-3.685	0.21553	T	0.0868220304280723	0.05036	0.294	0.63214	B	.;.;.	.;.;.	2.559118	0.33143	19.25	0.96467838080981627	0.29925	0.79879	0.39672	D	AEFBI	0.305921	0.41321	N	-0.340966266133552	0.27605	1.515937	-0.154244508031221	0.33246	1.899718	0.966672844025438	0.28921	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.13	4.22	0.49153	0.662000	0.24721	2.736000	0.34426	0.537000	0.25018	0.998000	0.41325	1.000000	0.68203	0.963000	0.52385	0.0:0.8093:0.0:0.1907	7.634	0.27424	507	0.75469	.;.;Prolyl 4-hydroxylase, alpha subunit	C1orf50|RP5-994D16.9|RP5-994D16.9|RP5-994D16.9|P3H1|PPIH	Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Spleen|Testis	P3H1|P3H1|P3H1|P3H1|P3H1	Adipose_Visceral_Omentum|Esophagus_Muscularis|Lung|Nerve_Tibial|Whole_Blood	rs11581921	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	0.047883	0.020408	0.043597	0.038012	0.100000	0.043103	0.051829	0.090909	0.25	3666.31	72	chr1	42750259	.	C	T	3666.31	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.42;DP=322;ExcessHet=0;FS=0.603;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=19.93;ReadPosRankSum=1.23;SOR=0.607	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2208,216,0	4	1	1	1
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q	Hypercholesterolemia, familial, 3	1	0	1	1520	0	3041	1	.	.	.	249989	Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|not_provided|not_specified|Cardiovascular_phenotype|Hypobetalipoproteinemia	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.994965	0.974747	0.994565	0.997076	1.000000	1.000000	0.996951	1.000000	1.0	22671.0	91	chr1	55057360	.	A	G	22671.0	.	AC=14;AF=1;AN=14;BaseQRankSum=2.03;DP=759;ExcessHet=0;FS=0;MLEAC=14;MLEAF=1;MQ=60;MQRankSum=0;QD=30.6;ReadPosRankSum=-0.989;SOR=0.243	GT:AD:DP:GQ:PL	1/1:0,91:91:99:2729,273,0	0	7	0	0
chr1	89054647	89054652	AAAAAC	-	intronic	GBP1	.	.	.	.	630	387	266	239	0	744	0.490119	.	.	.	1310281	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.4335	0.384984	0.4653	0.2752	0.3198	0.3797	0.6032	0.5117	0.4919	0.4927	0.0001921	5	26028	rs66614512	0.5009	0.4988	0.4991	0.5027	0.5162	0.4999	0.4995	0.5150	0.5146	0.2892	0.3353	0.4420	0.3415	0.6034	0.4709	0.5162	0.4810	0.5115	0.4382	0.4403	0.4351	0.4415	0.5215	0.4354	0.4343	0.5169	0.5151	0.2908	0.4658	0.3465	0.4346	0.3728	0.6123	0.5069	0.5215	0.4378	0.5102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	4958.07	18	chr1	89054646	.	GAAAAAC	G	4958.07	.	AC=8;AF=0.571;AN=14;BaseQRankSum=0.021;DP=212;ExcessHet=1.4958;FS=1.154;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=24.3;ReadPosRankSum=0.977;SOR=0.816	GT:AD:DP:GQ:PL	0/1:8,10:18:99:390,0,306	1	2	4	0
chr1	100196432	100196436	AAAAA	-	intronic	DBT	.	.	.	Maple syrup urine disease, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	265476	not_specified|Maple_syrup_urine_disease	MedGen:CN169374|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0066	0.0042	0.0164	0.0059	0.0154	0.0085	0.0369	0.0001153	3	26028	rs754946346	0.2509	0.2144	0.2509	0.2508	0.2606	0.2498	0.2493	0.2593	0.2588	0.1819	0.1956	0.2418	0.2549	0.2214	0.2604	0.2606	0.2479	0.2067	0.4488	0.4676	0.4467	0.4515	0.5509	0.4449	0.4433	0.5225	0.5111	0.3944	0.4656	0.5092	0.4787	0.4831	0.4988	0.5319	0.4530	0.4726	0.5509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	463.88	2	chr1	100196431	.	GAAAAA	G	463.88	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.674;DP=110;ExcessHet=0;FS=11.139;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=30.93;ReadPosRankSum=-0.319;SOR=3.897	GT:AD:DP:GQ:PL	1/1:0,2:2:6:76,6,0	3	1	1	2
chr1	158668076	158668076	A	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277732	Pyropoikilocytosis,_hereditary|not_provided|Spherocytosis,_Recessive|Elliptocytosis	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.295927	0.2594	0.3676	0.2026	0.2423	0.2213	0.2473	0.2422	0.3088	0.0001153	3	26028	rs5778087	0.2240	0.2318	0.2228	0.2252	0.3653	0.2233	0.2230	0.3595	0.3571	0.3653	0.1704	0.2138	0.2344	0.1747	0.2460	0.2196	0.2324	0.2731	0.2818	0.2831	0.2829	0.2807	0.4731	0.2795	0.2785	0.4673	0.4649	0.4731	0.0657	0.1879	0.2095	0.2214	0.1760	0.2259	0.2103	0.2655	0.2866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2827.55	24	chr1	158668075	.	GA	G	2827.55	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.331;DP=284;ExcessHet=0.4813;FS=2.929;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=0.299;SOR=0.995	GT:AD:DP:GQ:PL	0/1:18,6:24:76:76,0,350	2	0	5	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0901	0.0583	0.0571	0.1111	0.0285	0.0764	0.1111	0.1608	0.0101813	265	26028	rs746838916	0.1940	0.2229	0.1966	0.1915	0.3563	0.1933	0.1931	0.3505	0.3481	0.0679	0.2628	0.2257	0.3563	0.2032	0.2132	0.1918	0.2017	0.1427	0.3472	0.3539	0.3502	0.3440	0.6153	0.3444	0.3432	0.5953	0.5872	0.1764	0.4207	0.4130	0.4226	0.6153	0.3414	0.3519	0.3888	0.3596	0.3282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	2264.25	31	chr1	168293284	.	A	AGT	2264.25	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.304;DP=429;ExcessHet=1.4958;FS=25.24;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.55;SOR=2.143	GT:AD:DP:GQ:PL	1/0:4,16:31:99:801,195,204	3	0	4	0
chr1	168293284	168293284	-	GTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278196	not_provided|not_specified|Congenital_isolated_adrenocorticotropic_hormone_deficiency	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0333	0.0427	0.0224	0.0212	0.0098	0.0195	0.0439	0.0785	0.003842	100	26028	rs746838916	0.0596	0.0819	0.0593	0.0600	0.1098	0.0593	0.0591	0.1069	0.1057	0.0570	0.1098	0.0482	0.0845	0.0707	0.0885	0.0555	0.0629	0.0722	0.1451	0.1522	0.1446	0.1456	0.1848	0.1432	0.1425	0.1784	0.1758	0.1799	0.1222	0.1848	0.0991	0.1600	0.1397	0.1396	0.1219	0.1484	0.1679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2264.25	31	chr1	168293284	.	A	AGTGT	2264.25	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.304;DP=429;ExcessHet=1.4958;FS=25.24;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.55;SOR=2.143	GT:AD:DP:GQ:PL	0/1:4,11:31:99:801,289,417	6	0	1	0
chr1	169529737	169529737	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.A5290G:p.M1764V	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	683	630	208	0	1046	0.433665	.	.	.	249501	Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|not_specified|not_provided	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	.	0.2894	0.308706	0.3351	0.1905	0.5327	0.2606	0.2965	0.3211	0.3469	0.3980	0.331005	51174	154602	rs6030	0.3320	0.3320	0.3303	0.3337	0.5036	0.3312	0.3309	0.4981	0.4958	0.1908	0.5036	0.2433	0.2974	0.2961	0.3432	0.3294	0.3217	0.4015	0.2994	0.2996	0.2954	0.3036	0.4414	0.2971	0.2962	0.4325	0.4289	0.1962	0.1919	0.4414	0.2414	0.2702	0.2903	0.3129	0.3306	0.3275	0.4006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.799742	0.09333	N	0.908379	1	0.08975	P	-1.195	0.00846	N	-5.02	0.98562	D	0.77	0.01949	N	0.006	0.00044	-0.4336	0.70946	T	0.433	0.77400	T	9	0.00013938546	0.00010	T	.	.	.	0.230	0.53062	.	.	.	.	0.5774194888175482	0.57670	0.0874476088007	0.09862	0.202470511198	0.00532	T	0.012008	0.10625	T	-0.558879	0.00258	T	-0.431747	0.29737	T	0.00389668243981471	0.00041	T	0.0319468	0.00204	T	0.10963965	0.25921	0.15528889	0.36408	0.11500659	0.27143	0.10465255	0.25139	-1.936	0.02949	T	0.0630923633968402	0.01915	0.051	0.00195	B	.;.	.;.	-1.215408	0.00515	0.012	0.69920481567361925	0.09127	0.03239	0.08258	N	AEFGBCIJ	0.145810	0.26911	N	-1.46881193792389	0.02073	0.09117123	-1.39284912778787	0.03328	0.1549985	0.999997398089242	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.172119	0.04147	3	0.564101	0.26826	0	.	.	5.32	-2.86	0.05376	-2.274000	0.01245	-8.462000	0.00965	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0923:0.1961:0.2724:0.4392	3.252	0.06416	772	0.48957	.;.	ATP1B1	Testis	.	.	rs6030	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.324270	0.373737	0.269022	0.406433	0.250000	0.370690	0.277439	0.352273	0.7143	9095.72	82	chr1	169529737	.	T	C	9095.72	.	AC=10;AF=0.714;AN=14;BaseQRankSum=0.301;DP=577;ExcessHet=2.5225;FS=0;MLEAC=10;MLEAF=0.714;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=0.548;SOR=0.669	GT:AD:DP:GQ:PL	0/1:32,50:82:99:1188,0,727	0	3	4	0
chr1	169542517	169542517	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.A2573G:p.K858R	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	794	580	148	0	876	0.355519	.	.	.	249509	Thrombophilia_due_to_activated_protein_C_resistance|not_provided|Congenital_factor_V_deficiency|not_specified	MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:C3661900|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.009	.	0.2436	0.266773	0.2768	0.1782	0.4435	0.2189	0.2153	0.2598	0.2797	0.3462	0.26695	41271	154602	rs4524	0.2731	0.2732	0.2716	0.2747	0.4087	0.2724	0.2721	0.4038	0.4017	0.1804	0.4087	0.1760	0.2265	0.2171	0.2765	0.2718	0.2651	0.3467	0.2462	0.2463	0.2443	0.2481	0.3449	0.2441	0.2432	0.3341	0.3309	0.1831	0.1908	0.3418	0.1685	0.2342	0.2115	0.2381	0.2667	0.2614	0.3449	0.855	0.02705	T	0.847	0.03538	T	0.0	0.02946	B	0.0	0.01387	B	0.635169	0.10649	N	0.830320	1	0.08975	P	-1.355	0.00654	N	2.17	0.19020	T	0.21	0.04776	N	0.026	0.00527	-0.9096	0.46904	T	0.005	0.01615	T	9	0.00049877167	0.00011	T	.	.	.	0.009	0.00846	.	.	.	.	0.1337133431932104	0.13295	0.07127904727	0.07981	0.188595145941	0.00201	T	0.013326	0.11547	T	-0.869542	0.00001	T	-0.877993	0.00671	T	0.000714397847103574	0.00006	T	0.386661	0.09517	T	0.022049049	0.00842	0.030590214	0.01535	0.01725972	0.00258	0.02791734	0.00982	-3.171	0.12129	T	0.05318867320884815	0.01062	0.073	0.04477	B	.;.	.;.	-0.558016	0.01690	0.122	0.12338566367754079	0.00211	0.00494	0.02336	N	AEFBI	0.057701	0.10769	N	-1.69916646532579	0.00845	0.03654265	-1.64287359967973	0.01413	0.06388659	1.28884559717462E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.34	-1.7	0.07721	-0.613000	0.05705	-0.884000	0.07053	-1.357000	0.01185	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3402:0.1552:0.5046	5.162	0.14392	773	0.48803	.;.	.	.	.	.	rs4524	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.262336	0.303030	0.211957	0.318713	0.150000	0.275862	0.225610	0.295455	0.5	11702.1	131	chr1	169542517	.	T	C	11702.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.74;DP=1021;ExcessHet=3.6764;FS=1.097;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.369;SOR=0.609	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1574,0,1778	1	1	5	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	467	200	364	491	0	1346	0.770905	1.0000	0.918	YES	249563	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified	MedGen:C3661900|MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	Benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.8333	7426.47	40	chr1	179889309	.	G	A	7426.47	.	AC=10;AF=0.833;AN=12;BaseQRankSum=0.594;DP=331;ExcessHet=0.4139;FS=1.128;MLEAC=11;MLEAF=0.917;MQ=60;MQRankSum=0;QD=22.85;ReadPosRankSum=1.24;SOR=0.798	GT:AD:DP:GQ:PL	0/1:17,23:40:99:663,0,386	0	4	2	1
chr1	186007199	186007199	G	A	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon30:c.G4547A:p.R1516Q	.	.	.	.	.	.	.	.	.	.	.	3077744	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.210	0.0491735708116	.	.	0.0001	0	0.0002	0.0015	0	2.999e-05	0	0	0.00011	17	154602	rs751511835	4.244e-05	4.31e-05	4.631e-05	3.852e-05	0.0006	3.378e-05	3.066e-05	0.0004	0.0004	2.989e-05	0.0002	0	0.0006	1.872e-05	0	1.53e-05	9.94e-05	5.798e-05	7.891e-05	7.881e-05	3.857e-05	0.0001	0.0012	4.5e-05	3.515e-05	0.0005	0.0003	9.657e-05	0	0	0	0.0012	0	0	2.941e-05	0	0	0.324	0.13392	T	0.005	0.72224	D	0.999	0.77913	D	0.99	0.78936	D	0.000001	0.84330	D	0.055755	0.999999	0.58761	D	0.01	0.07948	N	-0.15	0.65192	T	-1.49	0.36385	N	0.68	0.68690	-0.8090	0.54611	T	0.266	0.63695	T	10	0.26088798	0.43542	T	0.049174	0.63698	D	0.210	0.50028	0.427	0.47350	0.820976921018	0.81928	0.638999643963675	0.63833	0.488082802852	0.47620	0.353346645832	0.18414	T	.	.	.	-0.332176	0.05948	T	-0.295476	0.45200	T	0.484624892473221	0.32067	T	0.882612	0.60317	D	0.2358766	0.46430	0.17832144	0.40493	0.2358766	0.46430	0.17832144	0.40493	-1.628	0.02048	T	.	.	0.088	0.11461	B	.	.	4.439852	0.68930	25.3	0.99953465610547543	0.99957	0.98559	0.84088	D	AEFI	0.894647	0.83384	D	0.570212585134092	0.71320	5.633155	0.625717882828513	0.76812	6.561	0.999997875884548	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.76	4.84	0.62125	7.455000	0.79783	8.668000	0.77998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.07:0.0:0.93:0.0	14.584	0.67906	407	0.82314	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	394.63	47	chr1	186007199	.	G	A	394.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.14;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=0.756;SOR=0.839	GT:AD:DP:GQ:PL	0/1:29,18:47:99:405,0,654	6	0	1	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q	.	440	2	22	1058	0	2138	0.998133	.	.	YES	1704217	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	16397.3	67	chr1	226735804	.	G	T	16397.3	.	AC=12;AF=1;AN=12;DP=535;ExcessHet=0;FS=0;MLEAC=13;MLEAF=1;MQ=60;QD=31.35;SOR=0.818	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2162,201,0	0	6	0	1
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A	.	424	234	529	335	0	1199	0.719256	.	.	YES	1704219	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.5142	0.610423	0.5305	0.5845	0.7358	0.6685	0.4347	0.4720	0.5254	0.5623	0.50903	78697	154602	rs6667260	0.4825	0.4819	0.4809	0.4841	0.7102	0.4815	0.4811	0.7027	0.6996	0.5746	0.7102	0.5629	0.6813	0.4308	0.6177	0.4599	0.5103	0.5424	0.5227	0.5226	0.5220	0.5234	0.6711	0.5197	0.5184	0.6525	0.6449	0.5810	0.4967	0.6248	0.5700	0.6711	0.4299	0.6190	0.4617	0.5449	0.5568	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.982952	0.08082	N	0.990786	1	0.08975	P	-1.445	0.00556	N	2.07	0.20523	T	0.05	0.06369	N	0.012	0.00279	-0.9439	0.41992	T	0.000	0.00011	T	9	3.5098994e-06	0.00003	T	.	.	.	0.047	0.12962	.	.	.	.	0.05903511649592833	0.05844	0.161341295611	0.18212	0.352891504765	0.18347	T	0.023569	0.17967	T	-0.842882	0.00003	T	-0.839698	0.01103	T	0.0107150276910547	0.00151	T	0.0740926	0.00542	T	0.03752211	0.04827	0.026574247	0.00754	0.03752211	0.04827	0.026574247	0.00754	-4.077	0.24950	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-0.032082	0.04066	0.946	0.19618645798258003	0.00670	0.00108	0.00689	N	AEFBCI	0.019005	0.00622	N	-1.50554167816208	0.01813	0.07947133	-1.45024527399043	0.02768	0.1279108	0.999628074989162	0.41093	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.636168	0.56350	0	.	.	4.1	1.01	0.19044	-0.836000	0.04489	-0.357000	0.09702	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.324:0.3961:0.0:0.28	3.041	0.05767	845	0.36510	.;.;.	PSEN2|COQ8A|PSEN2|PSEN2|ITPKB|COQ8A	Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Whole_Blood|Whole_Blood	COQ8A|PSEN2	Adipose_Subcutaneous|Lung	rs6667260	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.625378	0.616162	0.653533	0.640351	0.700000	0.672414	0.628049	0.496212	0.2857	3195.86	47	chr1	226736237	.	A	C	3195.86	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.957;DP=347;ExcessHet=2.5225;FS=1.01;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.984;SOR=0.8	GT:AD:DP:GQ:PL	0/1:21,26:47:99:729,0,565	3	0	4	0
chr1	226737175	226737183	CTGCCGCTG	-	exonic	ITPKB	.	nonframeshift deletion	ITPKB:NM_002221:exon2:c.276_284del:p.G94_S96del	.	422	529	453	118	0	689	0.39439	.	.	.	1704216	not_specified|Myeloproliferative_neoplasm,_unclassifiable	MedGen:CN169374|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2063	0.281949	0.2860	0.2580	0.2922	0.2649	0.2750	0.2861	0.3190	0.3021	0.0001153	3	26028	rs147889095	0.2812	0.2802	0.2803	0.2821	0.3168	0.2805	0.2802	0.3045	0.2996	0.2472	0.2922	0.2918	0.2716	0.2734	0.3168	0.2803	0.2944	0.2936	0.2774	0.2784	0.2782	0.2765	0.3020	0.2752	0.2742	0.2947	0.2918	0.2558	0.3792	0.3020	0.2989	0.2778	0.2744	0.2789	0.2810	0.2973	0.2968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	1916.09	15	chr1	226737174	.	ACTGCCGCTG	A	1916.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.656;DP=230;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=21.06;ReadPosRankSum=0.431;SOR=0.801	GT:AD:DP:GQ:PL	0/1:9,6:15:99:225,0,359	3	0	4	0
chr1	235380161	235380161	-	TG	intronic	TBCE	.	.	.	Encephalopathy, progressive, with amyotrophy and optic atrophy, Autosomal recessive;Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive;Kenny-Caffey syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	279615	Hypoparathyroidism-retardation-dysmorphism_syndrome|not_provided	MONDO:MONDO:0009426,MedGen:C1855840,OMIM:241410,Orphanet:2323|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226923578	0.0045	0.0075	0.0043	0.0046	0.0052	0.0043	0.0043	0.0046	0.0044	0.0014	0.0052	0.0041	0.0034	0.0051	0.0042	0.0045	0.0052	0.0048	0.0191	0.0201	0.0202	0.0180	0.0276	0.0185	0.0183	0.0265	0.0261	0.0068	0.0068	0.0229	0.0118	0.0139	0.0162	0.0108	0.0276	0.0184	0.0113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3058.85	11	chr1	235380161	.	T	TTG	3058.85	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.359;DP=280;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=32.2;ReadPosRankSum=0.145;SOR=1.007	GT:AD:DP:GQ:PL	0/1:2,3:11:38:60,0,38	5	0	2	0
chr1	235981618	235981618	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon16:c.G3220A:p.V1074M	.	.	.	.	.	.	.	.	.	.	.	4021245	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	0.00718858179288	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224266142	5.483e-06	6.156e-06	2.727e-06	8.268e-06	0.0002	2.36e-06	1.71e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.401e-06	1.659e-05	0	1.314e-05	1.313e-05	0	2.689e-05	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.04	0.42199	D	0.062	0.46182	T	0.356	0.37905	B	0.006	0.18489	B	0.043719	0.23712	N	0.485095	1	0.08975	N	1.54	0.38927	L	1.52	0.30669	T	-1.42	0.34992	N	0.235	0.26475	-1.0538	0.13359	T	0.044	0.18865	T	10	0.1391778	0.26465	T	0.007189	0.19061	T	0.034	0.08419	0.578	0.70347	0.260249123532	0.25628	0.6042341303907093	0.60354	0.219647916511	0.24509	0.383094578981	0.22695	T	0.124088	0.44888	T	-0.241381	0.15173	T	-0.584504	0.14145	T	0.118494383990765	0.14282	T	0.343766	0.07508	T	0.043493528	0.06788	0.07219032	0.15545	0.043493528	0.06788	0.07219032	0.15544	-6.898	0.56174	T	0.15521950927180894	0.18592	0.121	0.25000	B	.;.	.;.	1.451294	0.18725	13.89	0.98354259187540438	0.40578	0.14072	0.18207	N	AEFBI	0.268992	0.38537	N	-0.624496539530198	0.18210	0.9436023	-0.593522914215732	0.19661	1.055872	0.995234551476193	0.34019	0.706298	0.61202	0	0.53679	0.11191	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.87	2.58	0.30011	-0.275000	0.08557	-6.111000	0.01493	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.070000	0.16646	0.0:0.6046:0.122:0.2734	7.279	0.25474	386	0.83455	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	648.44	70	chr1	235981618	.	C	T	648.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.014;DP=253;ExcessHet=0;FS=0.913;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.006;SOR=0.568	GT:AD:DP:GQ:PL	0/1:40,30:70:99:659,0,965	6	0	1	0
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	not_provided|Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG	MedGen:C3661900|MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1128.82	37	chr1	236897645	.	CT	C	1128.82	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.348;DP=396;ExcessHet=8.2628;FS=5.329;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=4.99;ReadPosRankSum=-0.341;SOR=0.449	GT:AD:DP:GQ:PL	0/1:15,10:37:99:213,0,325	1	0	6	0
chr1	247425556	247425556	C	A	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_001127461:exon4:c.C2107A:p.Q703K,NLRP3:NM_001127462:exon4:c.C2107A:p.Q703K,NLRP3:NM_001243133:exon4:c.C2107A:p.Q703K,NLRP3:NM_004895:exon4:c.C2113A:p.Q705K,NLRP3:NM_183395:exon4:c.C2107A:p.Q703K,NLRP3:NM_001079821:exon5:c.C2107A:p.Q703K	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	2	1361	147	12	0	171	0.0591082	.	.	.	249858	Autoinflammatory_syndrome|Focal_segmental_glomerulosclerosis|Cryopyrin_associated_periodic_syndrome|Familial_cold_autoinflammatory_syndrome_1|Familial_amyloid_nephropathy_with_urticaria_AND_deafness|Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|not_specified|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	.	0.0348	0.0223642	0.0409	0.0103	0.0174	0.0023	0.0455	0.0554	0.0475	0.0364	0.0401806	6212	154602	rs35829419	0.0444	0.0444	0.0443	0.0444	0.0567	0.0441	0.0440	0.0516	0.0496	0.0093	0.0195	0.0648	0.0018	0.0485	0.0567	0.0480	0.0407	0.0374	0.0328	0.0328	0.0331	0.0325	0.0466	0.0320	0.0317	0.0452	0.0447	0.0099	0.0462	0.0235	0.0678	0.0015	0.0475	0.0510	0.0466	0.0383	0.0357	0.233	0.18956	T	0.581	0.13252	T	0.137	0.27402	B	0.022	0.19653	B	0.001058	0.00730	N	3.339880	1	0.08975	N	.	.	.	-2.37	0.88220	D	0.2	0.09135	N	0.105	0.14196	-0.7308	0.58923	T	0.119	0.41735	T	10	0.0027211607	0.00042	T	.	.	.	0.162	0.41843	.	.	.	.	0.3650717210622987	0.36421	0.593062829215	0.54674	0.258289754391	0.04689	T	0.174501	0.52374	T	-0.409931	0.01990	T	-0.323629	0.42176	T	0.00282959321631737	0.00030	T	0.688631	0.30243	T	0.09577053	0.22545	0.052836567	0.08782	0.09882642	0.23315	0.043405045	0.05393	-3.791	0.21328	T	.	.	0.077	0.07272	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.163191	0.03284	0.564	0.26450865337110768	0.01267	0.06425	0.12430	N	AEFDBCI	0.060385	0.11471	N	-1.18329923690612	0.05252	0.2389972	-1.24906822791398	0.05144	0.2444453	0.99871367089653	0.37518	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.49	-0.977	0.09757	-0.197000	0.09519	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2024:0.365:0.3221:0.1105	2.255	0.03805	889	0.27310	.;.;.;.;.;.;.;.	ZNF496	Skin_Sun_Exposed_Lower_leg	.	.	.	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	0.039778	0.040404	0.035326	0.038012	0.050000	0.017241	0.048780	0.034091	0.07143	2071.44	146	chr1	247425556	.	C	A	2071.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.646;DP=383;ExcessHet=0;FS=0.627;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1.024;SOR=0.787	GT:AD:DP:GQ:PL	0/1:66,80:146:99:2082,0,1623	6	0	1	0
chr2	21001981	21001981	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.G13441A:p.A4481T	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	1	1400	113	8	0	129	0.0440423	.	.	.	133868	Cardiovascular_phenotype|not_provided|Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|Hypercholesterolemia,_familial,_1|Familial_hypercholesterolemia|not_specified	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	.	0.0285	0.0141773	0.0241	0.0057	0.0158	0.0002	0.0203	0.0330	0.0309	0.0187	0.0248703	3845	154602	rs1801695	0.0317	0.0317	0.0317	0.0317	0.0614	0.0315	0.0314	0.0561	0.0540	0.0062	0.0195	0.0352	0.0001	0.0215	0.0614	0.0354	0.0287	0.0206	0.0260	0.0260	0.0261	0.0259	0.0406	0.0253	0.0250	0.0380	0.0369	0.0062	0.0802	0.0406	0.0366	0	0.0238	0.0578	0.0359	0.0322	0.0205	0.148	0.24857	T	0.127	0.35082	T	.	.	.	.	.	.	0.681940	0.10251	N	0.840251	1	0.08975	N	.	.	.	1.19	0.37578	T	-1.3	0.32590	N	0.02	0.00308	-1.0802	0.07310	T	0.013	0.05033	T	10	0.0020777583	0.00030	T	.	.	.	0.033	0.08068	.	.	.	.	0.09369258253249489	0.09301	0.0364196431978	0.03852	0.293061554432	0.09370	T	.	.	.	-0.628348	0.00098	T	-0.649592	0.08983	T	0.00430711358315662	0.00046	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13503	B	.	.	0.198878	0.05841	2.280	0.98444457265597174	0.41553	0.41293	0.26625	N	AEFBCI	0.409012	0.48046	N	-0.834480860197701	0.12435	0.6061245	-0.81574845949859	0.14113	0.7358027	0.88503607229943	0.25708	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	-0.996	0.09696	0.190000	0.16864	-1.438000	0.05439	0.549000	0.26987	0.969000	0.34210	0.000000	0.08366	0.092000	0.17891	0.4201:0.2784:0.0:0.3014	5.082	0.13995	861	0.33516	.	APOB	Adipose_Subcutaneous	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.044814	0.020202	0.058424	0.049708	0.000000	0.060345	0.054878	0.015152	0.07143	951.46	81	chr2	21001981	.	C	T	951.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.028;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.331;SOR=0.743	GT:AD:DP:GQ:PL	0/1:42,39:81:99:962,0,1029	6	0	1	0
chr2	38071251	38071251	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.G1103A:p.R368H	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	0	1399	110	13	0	136	0.0463531	.	.	YES	22778	Anterior_segment_dysgenesis_6|Glaucoma_3A|Glaucoma_3,_primary_infantile,_B|Congenital_ocular_coloboma|Irido-corneo-trabecular_dysgenesis|not_specified|Primary_congenital_glaucoma|Glaucoma,_early-onset,_digenic|not_provided|CYP1B1-related_disorder|Myopathy,_centronuclear,_5|Congenital_glaucoma	MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041|MedGen:C4016760|MedGen:C3661900|MedGen:CN239260|MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186|MONDO:MONDO:0020366,MedGen:C0020302	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.751	.	0.0016	0.00419329	0.0062	0.0004	0.0033	0	0	0.0029	0.0138	0.0294	0.0050646	783	154602	rs79204362	0.0032	0.0032	0.0022	0.0043	0.0311	0.0032	0.0031	0.0302	0.0298	0.0005	0.0021	0.0205	5.038e-05	7.643e-05	0.0236	0.0009	0.0041	0.0311	0.0020	0.0020	0.0016	0.0025	0.0245	0.0018	0.0018	0.0209	0.0195	0.0005	0	0.0012	0.0179	0	0	0.0205	0.0011	0.0047	0.0245	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.050909	0.999999	0.58761	A	3.06	0.86941	M	.	.	.	.	.	.	0.819	0.85132	0.251	0.86759	D	0.577	0.84738	D	9	0.009640098	0.00217	T	.	.	.	.	.	.	.	0.341696514166	0.33777	0.8175150785253305	0.81708	.	.	0.417915016413	0.27551	T	0.59259	0.86824	D	0.0961558	0.63873	D	0.388342	0.91724	D	0.0597581842735867	0.07131	T	0.933807	0.75196	D	0.90570295	0.91898	0.68082505	0.81245	0.8872861	0.90276	0.8142974	0.89175	-9.232	0.69178	D	.	.	0.200	0.42404	B	.;.	.;.	5.330663	0.89461	30	0.99942312783438658	0.99824	0.96543	0.69666	D	AEFDGBCI	0.942825	0.94789	D	0.728153233663213	0.81478	7.531585	0.629670928743175	0.77105	6.615648	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.401104	0.06395	2	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	7.798000	0.84489	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	17.194	0.86768	914	0.21048	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013650	0.005051	0.005435	0.017544	0.050000	0.025862	0.015528	0.026515	0.1429	4265.22	152	chr2	38071251	.	C	T	4265.22	.	AC=2;AF=0.143;AN=14;DP=398;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.06;SOR=0.861	GT:AD:DP:GQ:PL	1/1:0,152:152:99:4286,455,0	6	1	0	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I	Cystinuria, Autosomal recessive, Autosomal dominant	1	171	630	720	0	2070	0.858209	.	.	YES	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.646632	0.560606	0.637228	0.608392	0.700000	0.698276	0.698171	0.674242	0.6429	11556.1	88	chr2	44320435	.	G	A	11556.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-1.757;DP=573;ExcessHet=0.4813;FS=0;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=22.44;ReadPosRankSum=0.134;SOR=0.726	GT:AD:DP:GQ:PL	0/1:40,48:88:99:1278,0,1165	1	3	3	0
chr2	47414421	47414424	AAAA	-	intronic	MSH2	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 1, Autosomal dominant;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	286667	Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided|Breast_carcinoma	MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	0.0036	0.0020	0.0042	0.0063	0.0066	0.0078	0.0166	0.0011319	175	154602	rs779102258	0.0889	0.0931	0.0876	0.0903	0.1203	0.0884	0.0882	0.1165	0.1149	0.0906	0.1040	0.0945	0.1203	0.1125	0.1019	0.0861	0.0943	0.0957	0.0071	0.0050	0.0070	0.0071	0.0207	0.0065	0.0063	0.0190	0.0184	0.0207	0	0.0022	0.0017	0.0006	0	0	0.0006	0.0051	0.0045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	80.6	2	chr2	47414420	.	TAAAA	T	80.6	.	AC=2;AF=0.5;AN=4;DP=85;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;QD=31.06;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	1	1	0	5
chr2	69326244	69326244	A	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	290634	Congenital_myasthenic_syndrome_12|not_provided|not_specified|Congenital_Myasthenic_Syndrome,_Recessive	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900|MedGen:CN169374|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.5003	0.5725	0.4843	0.3357	0.5331	0.5252	0.4928	0.4503	0.0001537	4	26028	rs201330278	0.4721	0.4795	0.4728	0.4714	0.5446	0.4710	0.4706	0.5371	0.5340	0.5446	0.4487	0.5008	0.2970	0.4755	0.5037	0.4796	0.4730	0.4329	0.6332	0.6282	0.6394	0.6266	0.7813	0.6298	0.6283	0.7741	0.7711	0.7813	0.6810	0.5747	0.6455	0.3023	0.5629	0.6418	0.5950	0.6144	0.5344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1190.02	20	chr2	69326243	.	GA	G	1190.02	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.56;DP=207;ExcessHet=4.7409;FS=0.59;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.211;SOR=0.62	GT:AD:DP:GQ:PL	0/1:11,9:20:99:179,0,215	2	0	5	0
chr2	113062953	113062953	A	G	UTR3	IL36RN	NM_173170:c.*276A>G;NM_012275:c.*276A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1089	122	46	265	0	576	0.702439	.	.	.	283793	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.64154	16698	26028	rs1800930	0.6402	0.5794	0.6263	0.6522	0.7949	0.6378	0.6368	0.7880	0.7851	0.7003	0.6800	0.6607	0.7105	0.5871	0.7339	0.5921	0.6385	0.7949	0.6528	0.6527	0.6496	0.6560	0.8014	0.6494	0.6480	0.7803	0.7717	0.7079	0.7577	0.6634	0.6885	0.7078	0.6301	0.7381	0.6008	0.6883	0.8014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.6	232.79	2	chr2	113062953	.	A	G	232.79	.	AC=6;AF=0.6;AN=10;DP=13;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.6;MQ=60;QD=29.1;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	3	0	2
chr2	113063003	113063003	C	A	UTR3	IL36RN	NM_173170:c.*326C>A;NM_012275:c.*326C>A	.	.	Psoriasis 14, pustular, Autosomal recessive	1153	102	28	239	0	506	0.712676	.	.	.	283612	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.641694	16702	26028	rs2515402	0.6503	0.5392	0.6312	0.6662	0.7952	0.6475	0.6464	0.7882	0.7853	0.7079	0.6852	0.6657	0.7045	0.6007	0.7372	0.5959	0.6436	0.7952	0.6523	0.6524	0.6493	0.6555	0.8017	0.6489	0.6475	0.7806	0.7720	0.7070	0.7582	0.6634	0.6888	0.7075	0.6290	0.7381	0.6006	0.6879	0.8017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	121.3	2	chr2	113063003	.	C	A	121.3	.	AC=4;AF=0.333;AN=12;DP=12;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;QD=24.26;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	2	0	1
chr2	151546001	151546001	-	AA	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	284391	not_specified|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1440	0.0604	0.1574	0.115	0.1876	0.1587	0.1786	0.1441	0.0003458	9	26028	rs762865768	0.2258	0.2310	0.2267	0.2250	0.2483	0.2249	0.2246	0.2429	0.2407	0.0953	0.2483	0.1663	0.2286	0.2610	0.2082	0.2370	0.2191	0.1566	0.2744	0.2754	0.2758	0.2730	0.3541	0.2721	0.2712	0.3503	0.3487	0.1258	0.1437	0.2926	0.2221	0.2815	0.3645	0.2993	0.3541	0.2795	0.2023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	992.86	25	chr2	151546001	.	T	TAA	992.86	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.411;DP=224;ExcessHet=3.1439;FS=2.519;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=0.757;SOR=0.968	GT:AD:DP:GQ:PL	0/1:6,10:25:49:249,0,200	3	0	3	1
chr2	151680819	151680819	G	A	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon30:c.C2953T:p.R985C,NEB:NM_001164508:exon30:c.C2953T:p.R985C,NEB:NM_001271208:exon30:c.C2953T:p.R985C,NEB:NM_004543:exon30:c.C2953T:p.R985C	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	1960898	Nemaline_myopathy_2|not_provided	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.288	0.0812072471807	8.4e-05	.	3.313e-05	0	8.642e-05	0	0	4.496e-05	0	0	3.23e-05	5	154602	rs371287755	2.261e-05	2.531e-05	2.046e-05	2.479e-05	0.0002	1.613e-05	1.419e-05	1.546e-05	1.307e-05	5.983e-05	4.473e-05	0	0	0	0.0002	2.253e-05	3.317e-05	1.16e-05	1.315e-05	1.314e-05	1.286e-05	1.347e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.265	0.90016	M	2.61	0.13204	T	-3.77	0.72594	D	0.767	0.84609	-0.7658	0.57088	T	0.150	0.47787	T	10	0.82114995	0.81318	D	0.081207	0.73632	D	0.288	0.60691	.	.	0.531825494424	0.52830	0.41226509748115936	0.41142	0.388573688024	0.40119	0.74605345726	0.73864	T	0.23033	0.90934	T	-0.0786487	0.39935	T	-0.194384	0.55178	T	0.991448938846588	0.81740	D	0.980402	0.97045	D	0.5279072	0.68712	0.44894215	0.67921	0.5279072	0.68713	0.44894215	0.67922	-12.026	0.84978	D	.	.	0.562	0.67310	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.207500	0.87374	29.2	0.99950436466448012	0.99938	0.94383	0.60991	D	AEFGBI	0.772670	0.70692	D	0.880097343837602	0.90750	10.54857	0.822830098246725	0.91332	10.83434	0.999999999825022	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	3.590000	0.53726	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.548	0.91005	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	676.44	84	chr2	151680819	.	G	A	676.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.701;DP=326;ExcessHet=0;FS=0.85;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-2.233;SOR=0.541	GT:AD:DP:GQ:PL	0/1:50,34:84:99:687,0,1239	6	0	1	0
chr2	151724333	151724333	T	C	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon8:c.A539G:p.K180R,NEB:NM_001164508:exon8:c.A539G:p.K180R,NEB:NM_001271208:exon8:c.A539G:p.K180R,NEB:NM_004543:exon8:c.A539G:p.K180R	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	1	1504	16	1	0	18	0.00594845	.	.	.	195970	Nemaline_myopathy_2|Arthrogryposis_multiplex_congenita_6|not_provided|not_specified	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MONDO:MONDO:0030281,MedGen:C5543431,OMIM:619334|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.340	.	0.0002	0.00139776	0.0015	0	0.0003	0	0	0.0002	0	0.0104	0.0011255	174	154602	rs200719359	0.0007	0.0007	0.0004	0.0009	0.0086	0.0006	0.0006	0.0081	0.0079	5.978e-05	0.0004	3.832e-05	2.52e-05	0	0.0038	0.0001	0.0005	0.0086	0.0004	0.0004	0.0002	0.0006	0.0081	0.0003	0.0003	0.0061	0.0054	2.408e-05	0	0.0002	0	0.0002	0	0	0.0002	0	0.0081	0.082	0.33254	T	0.006	0.70582	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.953661	0.37841	D	1.04	0.26193	L	0.09	0.61443	T	-1.18	0.33798	N	0.551	0.58629	-0.6722	0.61729	T	0.265	0.63620	T	10	0.008422345	0.00191	T	.	.	.	0.340	0.66202	.	.	0.659639129211	0.65679	0.41065231655102347	0.40981	0.310185408663	0.33336	0.672708392143	0.63223	T	0.031629	0.47295	T	-0.334456	0.05781	T	-0.247226	0.50091	T	0.0483303558240865	0.05204	T	0.943906	0.78806	D	0.1762592	0.38529	0.2803727	0.54012	0.20324376	0.42395	0.25889754	0.51629	-5.85	0.45008	T	.	.	0.129	0.27493	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.360083	0.67034	25.0	0.99906942206846239	0.97726	0.97144	0.72948	D	AEFGBI	0.900325	0.84571	D	0.622822180551296	0.74620	6.163752	0.67920020457798	0.80802	7.380668	0.999999999999703	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.02	6.02	0.97559	7.599000	0.82008	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.203	0.81923	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.007576	0.07143	662.53	61	chr2	151724333	.	T	C	662.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.793;DP=234;ExcessHet=0;FS=3.524;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.642;SOR=0.468	GT:AD:DP:GQ:PL	0/1:30,31:61:99:673,0,754	6	0	1	0
chr2	169294718	169294720	AAA	-	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	283582	not_provided|not_specified|Donnai-Barrow_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0909	0.0720	0.0505	0.0735	0.1765	0.0822	0.1111	0.1048	0.0002305	6	26028	rs759076090	0.1851	0.1738	0.1848	0.1854	0.2132	0.1842	0.1839	0.2089	0.2071	0.1690	0.1813	0.1909	0.2132	0.1973	0.1874	0.1829	0.1955	0.1769	0.0022	0.0046	0.0019	0.0024	0.0064	0.0019	0.0018	0.0042	0.0035	0.0012	0	0.0010	0.0060	0.0022	0.0020	0.0046	0.0024	0.0029	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2395.03	10	chr2	169294717	.	TAAA	T	2395.03	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.908;DP=297;ExcessHet=0;FS=2.234;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=28.51;ReadPosRankSum=0.447;SOR=0.586	GT:AD:DP:GQ:PL	1/0:0,4:10:49:299,103,82	0	0	6	1
chr2	178461008	178461008	C	G	exonic	PJVK	.	nonsynonymous SNV	PJVK:NM_001353776:exon6:c.C799G:p.R267G,PJVK:NM_001369912:exon6:c.C793G:p.R265G,PJVK:NM_001042702:exon7:c.C793G:p.R265G,PJVK:NM_001353775:exon7:c.C802G:p.R268G,PJVK:NM_001353777:exon7:c.C316G:p.R106G,PJVK:NM_001353778:exon7:c.C316G:p.R106G	.	0	1161	119	13	229	374	0.0587758	.	.	.	53039	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_59|not_specified	MedGen:C3661900|MONDO:MONDO:0012445,MedGen:C1857744,OMIM:610220,Orphanet:90636|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	.	0.0393371	0.0553	0.0391	0.0314	0.0049	0.0783	0.0665	0.0667	0.0532	0.0519463	8031	154602	rs17304212	0.0653	0.0654	0.0653	0.0653	0.0700	0.0649	0.0648	0.0696	0.0694	0.0385	0.0339	0.0512	0.0082	0.0791	0.0626	0.0700	0.0614	0.0565	0.0558	0.0558	0.0556	0.0559	0.0682	0.0548	0.0544	0.0666	0.0659	0.0400	0.0099	0.0433	0.0510	0.0044	0.0865	0.0544	0.0682	0.0610	0.0542	0.035	0.43708	D	0.212	0.26549	T	0.268	0.31720	B	0.074	0.28220	B	0.000358	0.45440	U	0.089808	0.965609	0.25931	N	0.69	0.16971	N	0.21	0.59983	T	0.38	0.03579	N	0.203	0.22486	-1.0725	0.08873	T	0.014	0.05705	T	10	0.0028193295	0.00045	T	.	.	.	0.176	0.44373	.	.	.	.	0.408683402898632	0.40784	0.209859520089	0.23458	0.286527961493	0.08419	T	0.047728	0.27809	T	-0.418119	0.01759	T	-0.322324	0.42320	T	0.010165578161089	0.00137	T	0.811219	0.46271	T	0.11662337	0.27505	0.11295493	0.27256	0.10953706	0.25895	0.12079491	0.29148	-3.401	0.15070	T	0.14916472889405896	0.17422	0.096	0.25914	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.258701	0.44559	22.0	0.99623633323306127	0.75594	0.96974	0.71966	D	AEFI	0.604832	0.59578	D	0.0824565520564724	0.45644	2.81763	0.272322233914736	0.53928	3.559673	0.978132306747711	0.29890	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	6.04	6.04	0.98025	2.203000	0.42387	.	.	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.2446:0.7554:0.0:0.0	14.394	0.66568	320	0.86992	.;.;.;.;.;.;.;.	.	.	.	.	rs17304212	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	820.45	65	chr2	178461008	.	C	G	820.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.68;DP=262;ExcessHet=0;FS=5.167;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.664;SOR=1.356	GT:AD:DP:GQ:PL	0/1:34,31:65:99:831,0,761	6	0	1	0
chr2	178536584	178536584	-	A	ncRNA_intronic	TTN-AS1	.	.	.	.	2	1460	57	3	0	63	0.0211197	.	.	.	56790	TTN-related_disorder|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_recessive|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|not_specified|not_provided	.|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN239352|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239310|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0058	0.00359425	0.0057	0.0013	0.0052	0	0.0032	0.0066	0.0027	0.0118	0.0001153	3	26028	rs397517782	0.0049	0.0048	0.0047	0.0052	0.0245	0.0048	0.0048	0.0210	0.0197	0.0007	0.0038	0.0164	5.303e-05	0.0027	0.0245	0.0045	0.0056	0.0129	0.0046	0.0046	0.0043	0.0049	0.0093	0.0043	0.0042	0.0072	0.0064	0.0010	0	0.0054	0.0150	0	0.0025	0.0170	0.0064	0.0038	0.0093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	230.59	26	chr2	178536584	.	C	CA	230.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.288;DP=135;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=-0.676;SOR=0.813	GT:AD:DP:GQ:PL	0/1:15,11:26:99:241,0,372	6	0	1	0
chr2	178684680	178684680	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon128:c.C28892T:p.P9631L,TTN:NM_001256850:exon129:c.C31673T:p.P10558L,TTN:NM_001267550:exon131:c.C32624T:p.P10875L	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	1485	36	1	0	38	0.012633	.	.	.	56038	Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Cardiomyopathy|Supraventricular_tachycardia|Brugada_syndrome|Ventricular_tachycardia|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.099	0.0676674220286	0.0043	0.00179712	0.0051	0.0011	0.0040	0	0.0003	0.0077	0.0068	0.0020	0.0051552	797	154602	rs72650031	0.0062	0.0062	0.0062	0.0062	0.0138	0.0061	0.0061	0.0113	0.0104	0.0011	0.0048	0.0298	0	0.0008	0.0138	0.0066	0.0078	0.0019	0.0044	0.0044	0.0046	0.0043	0.0061	0.0041	0.0040	0.0056	0.0054	0.0013	0	0.0051	0.0271	0	0.0004	0.0170	0.0061	0.0066	0.0017	0.018	0.50676	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.953341	0.81001	D	.	.	.	0.01	0.62459	T	-4.2	0.75695	D	0.307	0.36884	-0.8865	0.49231	T	0.128	0.43564	T	9	0.0047104955	0.00099	T	0.067667	0.70230	D	0.099	0.28413	.	.	0.399449838166	0.39556	.	.	0.0853964992584	0.09651	0.350199282169	0.17950	T	.	.	.	-0.406057	0.02112	T	-0.34951	0.39260	T	0.0146866148041845	0.00305	T	0.670133	0.37107	T	.	.	.	.	.	.	.	.	-5.785	0.44513	T	.	.	0.118	0.24054	B	.;.;.;.	.;.;.;.	2.575469	0.33383	19.32	0.83374782489182619	0.14691	0.90434	0.51607	D	AEFBI	0.475036	0.51905	N	-0.154510048558569	0.35044	2.007901	-0.0064238421302907	0.39425	2.337319	0.0313608349272037	0.13997	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	4.76	0.60189	1.502000	0.35312	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0699:0.0:0.7916:0.1385	9.833	0.40121	393	0.83123	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.011593	0.005051	0.009511	0.023392	0.000000	0.000000	0.015337	0.011364	0.07143	377.63	34	chr2	178684680	.	G	A	377.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.78;DP=195;ExcessHet=0;FS=2.928;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.625;SOR=1.053	GT:AD:DP:GQ:PL	0/1:19,15:34:99:388,0,418	6	0	1	0
chr2	178718746	178718746	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon81:c.G20722A:p.V6908I,TTN:NM_001256850:exon82:c.G23503A:p.V7835I,TTN:NM_001267550:exon84:c.G24454A:p.V8152I	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	.	.	.	.	.	.	.	.	.	.	55897	not_specified|Cardiovascular_phenotype|not_provided	MedGen:CN169374|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.263	0.0149077258008	.	.	4.147e-05	0	0	0.0002	0	1.501e-05	0	0.0001	3.23e-05	5	154602	rs397517507	4.447e-05	4.583e-05	3.676e-05	5.227e-05	0.0008	3.576e-05	3.258e-05	0.0006	0.0005	0	4.472e-05	0	0.0008	0	0	2.159e-05	3.313e-05	6.957e-05	5.26e-05	5.254e-05	3.856e-05	6.729e-05	0.0004	2.559e-05	1.831e-05	6.835e-05	2.86e-05	7.242e-05	0	6.551e-05	0	0.0004	0	0	2.941e-05	0	0	0.364	0.11770	T	.	.	.	0.018	0.17786	B	0.021	0.19346	B	.	.	.	.	0.963987	0.38380	D	.	.	.	-0.51	0.70597	T	-0.45	0.14782	N	0.05	0.11340	-0.6205	0.63968	T	0.281	0.65260	T	9	0.09499732	0.16934	T	0.014908	0.35329	T	0.263	0.57612	0.708	0.84418	0.424313518543	0.42050	.	.	0.0722242068583	0.08101	0.475994944572	0.35506	T	.	.	.	-0.253672	0.13652	T	-0.301835	0.44532	T	0.0224099806746072	0.00955	T	0.646135	0.29475	T	.	.	.	.	.	.	.	.	-3.975	0.24920	T	.	.	0.105	0.19194	B	.;.;.;.	.;.;.;.	2.464511	0.31755	18.84	0.9195098425394117	0.21279	0.38009	0.25891	N	AEFBI	0.145156	0.26829	N	-0.100061807074213	0.37390	2.17463	0.0345888616413918	0.41334	2.481476	0.684373324123639	0.22516	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	1.108000	0.30736	.	.	0.599000	0.40250	0.443000	0.26511	0.998000	0.33993	0.998000	0.85391	0.0:0.9299:0.0:0.0701	13.683	0.61977	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1283.44	93	chr2	178718746	.	C	T	1283.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.437;DP=411;ExcessHet=0;FS=1.68;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-0.441;SOR=0.529	GT:AD:DP:GQ:PL	0/1:41,52:93:99:1294,0,975	6	0	1	0
chr2	188994709	188994709	T	-	intronic	COL3A1	.	.	.	Ehlers-Danlos syndrome, type IV, Autosomal dominant	2	167	53	4	0	61	0.15443	.	.	.	196782	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome,_type_4|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0017314,MedGen:C0268338,OMIM:130050,Orphanet:286|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1215.87	28	chr2	188994708	.	CT	C	1215.87	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.921;DP=226;ExcessHet=0.4139;FS=1.075;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=1.45;SOR=0.811	GT:AD:DP:GQ:PL	0/1:8,18:28:99:437,0,127	4	0	2	1
chr2	210556738	210556738	C	T	exonic	CPS1	.	nonsynonymous SNV	CPS1:NM_001875:exon1:c.C5T:p.T2M,CPS1:NM_001122633:exon2:c.C5T:p.T2M,CPS1:NM_001369256:exon2:c.C38T:p.T13M,CPS1:NM_001369257:exon3:c.C5T:p.T2M	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	284537	Inborn_genetic_diseases|not_provided|Congenital_hyperammonemia,_type_I	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.416	0.183816231014	0.0003	.	6.609e-05	0.0002	0	0	0	9.005e-05	0	0	5.17e-05	8	154602	rs150314086	8.491e-05	8.482e-05	8.585e-05	8.397e-05	0.0003	7.216e-05	6.803e-05	0.0002	0.0001	0.0002	0.0003	0.0010	5.042e-05	0.0001	0.0002	4.591e-05	0.0002	5.802e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0003	0.0009	0	0.0002	0	8.831e-05	0.0010	0	0.025	0.50676	D	0.0	0.92824	D	0.076	0.24253	B	0.01	0.14941	B	0.000065	0.52346	D	0.169407	0.994951	0.42484	D	0.975	0.24501	L	-3.39	0.97849	D	-0.68	0.19509	N	0.297	0.33578	0.529	0.90949	D	0.809	0.93568	D	10	0.2185871	0.38504	T	0.183816	0.85709	D	0.416	0.72631	.	.	0.942754961114	0.94215	0.6262863075733556	0.62561	0.814303318369	0.66875	0.619242668152	0.55623	T	0.013996	0.61784	T	-0.0713926	0.41103	T	-0.0103257	0.69663	D	0.0609135297966567	0.07311	T	0.864413	0.56300	D	0.063459486	0.13363	0.07761905	0.17308	0.063459486	0.13362	0.07761905	0.17308	-4.943	0.36215	T	.	.	0.262	0.49616	B	.;.;.;.;.;.	.;.;.;.;.;.	3.842057	0.55601	23.6	0.99856567355917891	0.93548	0.76365	0.37447	D	AEFBHCI	0.724105	0.67351	D	-0.124983076989101	0.36307	2.096869	0.0624972994517336	0.42681	2.585748	0.999999967756711	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.567892	0.33627	0	.	.	5.78	4.9	0.63643	2.284000	0.43140	4.069000	0.41649	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9203:0.0:0.0797	12.256	0.53939	239	0.90673	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	851.44	57	chr2	210556738	.	C	T	851.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.86;DP=240;ExcessHet=0;FS=1.032;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-1.296;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,25:57:99:0|1:210556728_A_ATCT:862,0,1221:210556728	6	0	1	0
chr2	222201817	222201817	-	A	UTR3	PAX3	NM_181457:c.*106_*107insT	.	.	Craniofacial-deafness-hand syndrome, Autosomal dominant;Rhabdomyosarcoma 2, alveolar, Autosomal recessive;Waardenburg syndrome, type 1, Autosomal dominant;Waardenburg syndrome, type 3, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	287842	Waardenburg_syndrome|Craniofacial-deafness-hand_syndrome|not_provided	MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440|MONDO:MONDO:0007395,MedGen:C1852510,OMIM:122880,Orphanet:1529|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs552778546	0.2754	0.2853	0.2770	0.2737	0.2818	0.2746	0.2743	0.2809	0.2806	0.2280	0.1885	0.2779	0.2631	0.2428	0.2626	0.2818	0.2750	0.2734	0.2393	0.2287	0.2376	0.2413	0.3120	0.2371	0.2362	0.2977	0.2919	0.2002	0.1987	0.2236	0.2809	0.3104	0.2498	0.3211	0.2518	0.2275	0.3120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	538.28	6	chr2	222201817	.	C	CA	538.28	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0;DP=95;ExcessHet=6.1542;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.209;SOR=0.818	GT:AD:DP:GQ:PL	0/1:2,3:6:42:56,0,42	3	0	3	1
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5822.12	57	chr2	233681881	.	T	G	5822.12	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.572;DP=501;ExcessHet=3.6764;FS=4.316;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.211;SOR=0.989	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1600,171,0	1	1	5	0
chr2	233757013	233757013	T	G	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	1175	190	33	124	0	281	0.425113	.	.	YES	27327	not_provided|UGT1A8-related_condition|Gilbert_syndrome|Gilbert_syndrome,_susceptibility_to|Lucey-Driscoll_syndrome|Crigler-Najjar_syndrome,_type_II|Crigler-Najjar_syndrome_type_1|UGT1A9-related_disorder	MedGen:C3661900|.|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MedGen:C4016425|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.588059	.	.	.	.	.	.	.	.	0.483095	12574	26028	rs4124874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5551	0.5558	0.5568	0.5533	0.8203	0.5519	0.5506	0.8129	0.8099	0.8203	0.4823	0.4853	0.5378	0.3271	0.4919	0.5000	0.4377	0.5124	0.5886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	207.13	2	chr2	233757013	.	T	G	207.13	.	AC=4;AF=0.5;AN=8;DP=13;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.5;MQ=60;QD=29.59;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	2	0	3
chr2	233760233	233760233	-	AT	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	27314	Crigler-Najjar_syndrome|not_specified|UGT1A1-related_disorder|not_provided|Crigler-Najjar_syndrome,_type_II|BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1|Lucey-Driscoll_syndrome|Gilbert_syndrome|Crigler-Najjar_syndrome_type_1|Irinotecan_response	MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C1866173,OMIM:601816|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MedGen:CN077989	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	274.41	9	chr2	233760233	.	C	CAT	274.41	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.967;DP=62;ExcessHet=1.383;FS=4.624;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-0.163;SOR=0.061	GT:AD:DP:GQ:PL	0/1:7,2:9:48:48,0,237	3	0	3	1
chr3	10052455	10052455	A	C	exonic	FANCD2	.	synonymous SNV	FANCD2:NM_001018115:exon18:c.A1614C:p.T538T,FANCD2:NM_001319984:exon18:c.A1614C:p.T538T,FANCD2:NM_001374254:exon18:c.A1614C:p.T538T,FANCD2:NM_033084:exon18:c.A1614C:p.T538T	Fanconi anemia, complementation group D2, Autosomal recessive	24	1495	3	0	0	3	0.00100234	.	.	.	683524	not_provided|Fanconi_anemia|FANCD2-related_disorder|Fanconi_anemia_complementation_group_D2	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|.|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	0.000199681	0.0004	0	0	0	0	0.0002	0.0011	0.0019	0.0003105	48	154602	rs141824395	0.0004	0.0004	0.0003	0.0004	0.0020	0.0003	0.0003	0.0017	0.0016	8.973e-05	2.236e-05	0	0	0.0002	0.0009	0.0003	0.0003	0.0020	0.0003	0.0003	0.0002	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	4.814e-05	0	6.54e-05	0	0	9.414e-05	0	0.0004	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	767.45	91	chr3	10052455	.	A	C	767.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.01;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.79;MQRankSum=0;QD=8.43;ReadPosRankSum=1.69;SOR=0.718	GT:AD:DP:GQ:PL	0/1:56,35:91:99:778,0,1241	6	0	1	0
chr3	10064724	10064724	C	T	intronic	FANCD2	.	.	.	Fanconi anemia, complementation group D2, Autosomal recessive	0	1353	169	0	0	169	0.0587826	0	0.002	.	215265	Fanconi_anemia_complementation_group_A|Hereditary_breast_ovarian_cancer_syndrome|not_provided|Fanconi_anemia_complementation_group_D2|Fanconi_anemia|not_specified	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0063	0.0008	0.0058	0.0009	0.0020	0.0022	0.0013	5.82e-05	9	154602	rs4019784	0.0006	0.0104	0.0006	0.0006	0.0171	0.0006	0.0006	0.0141	0.0130	0.0010	0.0002	0.0004	0.0028	0.0031	0.0171	0.0003	0.0011	0.0006	0.0021	0.0255	0.0020	0.0022	0.0034	0.0019	0.0018	0.0029	0.0027	0.0034	0.0012	0.0025	0.0013	0.0032	0.0020	0	0.0012	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	53.8	36	chr3	10064724	.	C	T	53.8	.	AC=3;AF=0.3;AN=10;BaseQRankSum=1.08;DP=270;ExcessHet=1.383;FS=7.153;MLEAC=3;MLEAF=0.3;MQ=57.73;MQRankSum=-5.858;QD=0.32;ReadPosRankSum=-2.106;SOR=1.663	GT:AD:DP:GQ:PL	0/1:32,4:36:26:26,0,877	2	0	3	2
chr3	10289773	10289773	G	T	exonic	GHRL	.	nonsynonymous SNV	GHRL:NM_001134944:exon2:c.C178A:p.L60M,GHRL:NM_001134945:exon2:c.C175A:p.L59M,GHRL:NM_001302825:exon3:c.C214A:p.L72M,GHRL:NM_001134941:exon4:c.C211A:p.L71M,GHRL:NM_001302822:exon4:c.C214A:p.L72M,GHRL:NM_001302823:exon4:c.C211A:p.L71M,GHRL:NM_001302824:exon4:c.C214A:p.L72M,GHRL:NM_016362:exon4:c.C214A:p.L72M,GHRL:NM_001302821:exon5:c.C214A:p.L72M	.	376	1002	128	16	0	160	0.0739372	.	.	.	20101	not_provided|Inherited_obesity|Metabolic_syndrome,_susceptibility_to|Obesity,_age_at_onset_of|Obesity	MedGen:C3661900|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|MedGen:C2676079|MedGen:C4016925|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	.	0.0588	0.0832668	0.0856	0.0200	0.0399	0.1930	0.1250	0.0847	0.1134	0.0889	0.0837505	12948	154602	rs696217	0.0829	0.0833	0.0823	0.0834	0.1932	0.0825	0.0823	0.1896	0.1881	0.0185	0.0506	0.1274	0.1932	0.1238	0.0611	0.0785	0.0865	0.0892	0.0727	0.0730	0.0696	0.0759	0.1951	0.0716	0.0711	0.1850	0.1810	0.0217	0.0352	0.0728	0.1269	0.1951	0.1366	0.0816	0.0810	0.0705	0.0913	0.112	0.51853	T	0.191	0.59732	T	1.0	0.90584	D	0.999	0.92359	D	0.067916	0.21708	N	0.330746	0.982043	0.58761	P	2.36	0.67893	M	1.38	0.60734	T	-0.42	0.26843	N	0.377	0.43706	-1.0407	0.17101	T	0.001	0.00255	T	9	0.0015681088	0.00018	T	.	.	.	0.124	0.34239	.	.	.	.	0.1238158666168449	0.12307	0.0539738033869	0.05963	0.447462975979	0.31598	T	0.192568	0.54777	T	-0.475863	0.00782	T	-0.3125	0.43390	T	0.024983608988191	0.01270	T	0.712529	0.42343	T	0.102517754	0.24226	0.08301495	0.18992	0.102517754	0.24226	0.08301495	0.18992	-4.801	0.36808	T	0.27672248696563045	0.37134	0.160	0.36012	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.498192	0.48928	22.7	0.99158779589247237	0.54043	0.74171	0.36280	D	AEFDBCI	0.170422	0.29733	N	0.386817246144049	0.60708	4.262665	0.260991158776893	0.53276	3.497412	0.998737675853913	0.37559	0.533608	0.22052	0	0.573116	0.20632	0	0.536957	0.11973	0	0.638833	0.57524	0	.	.	4.34	3.44	0.38486	2.297000	0.43254	5.210000	0.47963	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.486000	0.28701	0.1118:0.0:0.8882:0.0	8.378	0.31614	715	0.56137	Motilin/ghrelin-associated peptide;.;.;.;.;.;Motilin/ghrelin-associated peptide;Motilin/ghrelin-associated peptide	LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Esophagus_Muscularis|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood	IRAK2|IRAK2|GHRL	Adipose_Subcutaneous|Small_Intestine_Terminal_Ileum|Whole_Blood	rs696217	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.076032	0.095960	0.061141	0.064327	0.050000	0.077586	0.094512	0.064394	0.3333	4340.73	70	chr3	10289773	.	G	T	4340.73	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.012;DP=440;ExcessHet=3.1439;FS=1.24;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.186;SOR=0.618	GT:AD:DP:GQ:PL	0/1:33,37:70:99:912,0,768	2	0	4	1
chr3	15521729	15521729	-	TG	upstream	COLQ	dist=23	.	.	Myasthenic syndrome, congenital, 5, Autosomal recessive	67	130	17	12	0	41	0.136213	.	.	.	293472	Congenital_Myasthenic_Syndrome,_Recessive|not_provided	MedGen:CN239337|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1179837883	0.1825	0.2084	0.1812	0.1838	0.3061	0.1819	0.1816	0.3005	0.2982	0.3061	0.2555	0.1878	0.2355	0.1166	0.2281	0.1758	0.1937	0.1911	0.2696	0.2733	0.2717	0.2674	0.3754	0.2674	0.2665	0.3703	0.3683	0.3754	0.1670	0.3074	0.2298	0.2766	0.1317	0.2705	0.2249	0.2744	0.2276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	437.28	17	chr3	15521729	.	T	TTG	437.28	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.628;DP=143;ExcessHet=1.383;FS=1.382;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.269;SOR=0.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,8:17:99:.:.:221,0,286:.	3	0	3	1
chr3	15644501	15644501	C	T	exonic	BTD	.	synonymous SNV	BTD:NM_001281723:exon4:c.C585T:p.L195L,BTD:NM_001281725:exon4:c.C585T:p.L195L,BTD:NM_001370658:exon4:c.C585T:p.L195L,BTD:NM_001370752:exon4:c.C585T:p.L195L,BTD:NM_001323582:exon5:c.C585T:p.L195L,BTD:NM_001281724:exon6:c.C585T:p.L195L	Biotinidase deficiency, Autosomal recessive	0	1485	37	0	0	37	0.0123046	.	.	YES	36369	not_provided|Biotinidase_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260,Orphanet:79241|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0075	0.00159744	0.0077	0.0012	0.0024	0	0.0065	0.0125	0.0044	0.0007	0.007639	1181	154602	rs145388314	0.0089	0.0089	0.0091	0.0087	0.0098	0.0088	0.0087	0.0096	0.0095	0.0014	0.0037	0.0335	2.519e-05	0.0075	0.0071	0.0098	0.0088	0.0013	0.0066	0.0066	0.0070	0.0062	0.0100	0.0063	0.0061	0.0093	0.0091	0.0012	0	0.0041	0.0317	0.0004	0.0073	0.0102	0.0100	0.0066	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.003525	0.000000	0.002717	0.000000	0.050000	0.034483	0.003049	0.000000	0.07143	2178.44	179	chr3	15644501	.	C	T	2178.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.988;DP=384;ExcessHet=0;FS=1.847;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.755;SOR=0.852	GT:AD:DP:GQ:PL	0/1:88,91:179:99:2189,0,2264	6	0	1	0
chr3	48586470	48586470	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon27:c.G3412A:p.V1138M	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	290989	COL7A1-related_disorder|not_provided|Epidermolysis_bullosa_dystrophica	.|MedGen:C3661900|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.242	0.0507760545315	7.7e-05	.	9.07e-05	9.621e-05	0	0	0	3.002e-05	0	0.0005	7.76e-05	12	154602	rs145048666	3.079e-05	3.078e-05	2.587e-05	3.576e-05	0.0004	2.347e-05	2.095e-05	0.0003	0.0002	8.961e-05	2.236e-05	0	0	0	0	8.093e-06	1.656e-05	0.0004	5.252e-05	5.249e-05	2.57e-05	8.056e-05	0.0004	2.555e-05	1.829e-05	7.285e-05	3.027e-05	4.811e-05	0	0	0	0	0	0	5.88e-05	0	0.0004	0.151	0.24564	T	0.173	0.30143	T	0.999	0.77913	D	0.947	0.68407	D	0.028840	0.25543	N	0.194924	0.999999	0.08975	N	2.075	0.57047	M	-1.07	0.76948	T	-0.43	0.14390	N	0.463	0.49965	-0.6786	0.61437	T	0.366	0.72651	T	10	0.37787953	0.53970	T	0.050776	0.64384	D	0.242	0.54781	.	.	0.874558810669	0.87333	0.5460547872894344	0.54531	0.250513331292	0.27618	0.466369360685	0.34183	T	0.227305	0.59256	T	-0.226134	0.17163	T	-0.240636	0.50737	T	0.126601533256048	0.15065	T	0.816218	0.47186	T	0.06531073	0.13945	0.061872657	0.12017	0.06531073	0.13945	0.061872657	0.12016	-3.413	0.15232	T	0.13130275179206227	0.13895	0.210	0.43721	B	.	.	2.917933	0.38724	20.8	0.92486560018808162	0.21920	0.36348	0.25512	N	AEFBCI	0.090633	0.18363	N	0.247516305348198	0.53515	3.520113	0.211298816381114	0.50475	3.23904	0.964307470438623	0.28750	0.661447	0.50134	0	0.588066	0.40923	0	0.644132	0.48003	0	0.542086	0.14980	0	.	.	4.88	3.74	0.42108	1.078000	0.30365	2.587000	0.33447	0.599000	0.40250	0.687000	0.28504	0.993000	0.31925	0.968000	0.53726	0.0:0.7246:0.0:0.2754	4.037	0.09218	11	0.98996	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	946.44	95	chr3	48586470	.	C	T	946.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.45;DP=292;ExcessHet=0;FS=1.688;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-1.353;SOR=0.712	GT:AD:DP:GQ:PL	0/1:57,38:95:99:957,0,1375	6	0	1	0
chr3	93900833	93900833	C	T	exonic	PROS1	.	nonsynonymous SNV	PROS1:NM_000313:exon7:c.G698A:p.R233K,PROS1:NM_001314077:exon8:c.G794A:p.R265K	Thrombophilia due to protein S deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive, Autosomal recessive	79	1375	60	8	0	76	0.0268931	.	.	.	171093	Finnish_congenital_nephrotic_syndrome|Thrombophilia_due_to_protein_S_deficiency,_autosomal_recessive|Retinal_dystrophy|Thrombophilia_due_to_protein_S_deficiency,_autosomal_dominant|Protein_S_deficiency_disease|PROS1-related_disorder	MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|MONDO:MONDO:0013791,MedGen:C3281092,OMIM:614514,Orphanet:743|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0012868,MedGen:C3278211,OMIM:612336,Orphanet:26349,Orphanet:743|MONDO:MONDO:0002304,MeSH:D018455,MedGen:C0242666|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.502	.	0.0020	0.00698882	0.0074	0.0006	0.0032	0	0.0024	0.0037	0.0099	0.0351	0.0066105	1022	154602	rs41267007	0.0055	0.0055	0.0047	0.0064	0.0338	0.0054	0.0054	0.0328	0.0324	0.0004	0.0025	0.0016	5.039e-05	0.0023	0.0184	0.0040	0.0056	0.0338	0.0031	0.0031	0.0026	0.0035	0.0366	0.0028	0.0027	0.0322	0.0305	0.0006	0	0.0014	0.0003	0	0.0022	0	0.0032	0.0014	0.0366	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.480529	0.12171	N	0.758803	0.999972	0.18612	N	0.58	0.15352	N	-2.22	0.87038	D	0.13	0.05503	N	0.094	0.07398	-0.8327	0.53127	T	0.221	0.58434	T	10	0.0106553435	0.00236	T	.	.	.	0.502	0.78475	.	.	0.679094201566	0.67636	0.3702398663570681	0.36937	0.232416631394	0.25783	0.252426564693	0.04027	T	0.512652	0.82801	D	-0.266576	0.12141	T	-0.13132	0.60861	T	0.00268860779094126	0.00028	T	0.672333	0.34027	T	0.22805142	0.45518	0.050635796	0.07989	0.23177832	0.45955	0.044609684	0.05819	-3.187	0.12322	T	0.09818819590687654	0.06992	0.084	0.11172	B	.;.;.;.;.;.	.;.;.;.;.;.	0.873033	0.12461	8.992	0.72373484607788618	0.09951	0.09182	0.14989	N	AEFI	0.180271	0.30757	N	-0.987964775886933	0.08860	0.4170622	-0.855430635375312	0.13157	0.6810129	1.10828034484068E-5	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	4.08	-0.333	0.12042	-0.162000	0.10000	0.805000	0.21696	0.434000	0.20985	0.157000	0.23755	0.999000	0.35428	0.703000	0.34233	0.1717:0.3795:0.2108:0.238	1.258	0.01874	609	0.67094	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013990	0.000000	0.012228	0.006849	0.000000	0.017241	0.006135	0.034091	0.07143	1362.53	108	chr3	93900833	.	C	T	1362.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.664;DP=282;ExcessHet=0;FS=0.722;MLEAC=1;MLEAF=0.071;MQ=59.6;MQRankSum=-1.072;QD=12.62;ReadPosRankSum=-0.521;SOR=0.799	GT:AD:DP:GQ:PL	0/1:47,61:108:99:1373,0,1027	6	0	1	0
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	895.68	20	chr3	160258644	.	G	GA	895.68	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.805;DP=185;ExcessHet=3.1439;FS=1.858;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.477;SOR=0.468	GT:AD:DP:GQ:PL	0/1:17,3:20:25:25,0,422	2	0	4	1
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	306	693	523	0	1739	0.739685	.	.	.	54598	WFS1-Related_Spectrum_Disorders|Wolfram_syndrome_1|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided|not_specified	MedGen:CN239410|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5531	0.641573	0.6245	0.4646	0.7443	0.9358	0.5720	0.5907	0.6355	0.6352	0.616195	95265	154602	rs1801206	0.6051	0.6051	0.6041	0.6061	0.9578	0.6040	0.6036	0.9497	0.9464	0.4555	0.7260	0.6765	0.9578	0.5715	0.5902	0.5890	0.6193	0.6353	0.5756	0.5759	0.5734	0.5779	0.9332	0.5724	0.5711	0.9111	0.9021	0.4596	0.3890	0.6659	0.6603	0.9332	0.5667	0.6156	0.5925	0.6087	0.6444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.592145	0.550505	0.592391	0.529240	0.600000	0.594828	0.612805	0.643939	0.4286	17648.4	161	chr4	6300980	.	C	T	17648.4	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-2.92;DP=1050;ExcessHet=0.0509;FS=3.694;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=22.09;ReadPosRankSum=-0.049;SOR=0.922	GT:AD:DP:GQ:PL	0/1:84,77:161:99:1929,0,2324	3	2	2	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	10	265	679	568	0	1815	0.773987	.	.	YES	54604	WFS1-Related_Spectrum_Disorders|not_specified|Type_2_diabetes_mellitus|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_6	MedGen:CN239410|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6323	0.729433	0.6595	0.6736	0.7600	0.9441	0.5735	0.6010	0.6641	0.7013	0.648394	100243	154602	rs1801214	0.6232	0.6230	0.6215	0.6249	0.9621	0.6221	0.6216	0.9540	0.9506	0.6757	0.7449	0.6960	0.9621	0.5729	0.6281	0.5982	0.6483	0.6951	0.6443	0.6444	0.6428	0.6459	0.9402	0.6409	0.6395	0.9181	0.9091	0.6704	0.3904	0.7014	0.6817	0.9402	0.5669	0.6531	0.6019	0.6596	0.7030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.658107	0.641414	0.689373	0.599415	0.700000	0.629310	0.643293	0.696970	0.5714	16282.1	97	chr4	6301295	.	C	T	16282.1	.	AC=8;AF=0.571;AN=14;BaseQRankSum=2.24;DP=805;ExcessHet=0.0509;FS=0.603;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=21.77;ReadPosRankSum=0.236;SOR=0.79	GT:AD:DP:GQ:PL	1/1:0,97:97:99:3036,291,0	2	3	2	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	432	231	483	376	0	1235	0.727755	.	.	.	1276892	not_provided|Hereditary_attention_deficit-hyperactivity_disorder	MedGen:C3661900|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.6667	10690.6	79	chr4	9783510	.	T	C	10690.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.86;DP=547;ExcessHet=3.1439;FS=0;MLEAC=9;MLEAF=0.75;MQ=59.98;MQRankSum=0;QD=20.1;ReadPosRankSum=-0.412;SOR=0.721	GT:AD:DP:GQ:PL	0/1:39,40:79:99:892,0,939	0	2	4	1
chr4	38797027	38797027	C	A	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.G1805T:p.S602I	.	433	95	396	598	0	1592	0.893378	.	.	.	23399	Leprosy,_susceptibility_to,_1|Leprosy,_protection_against|TLR1-related_disorder	MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548|MedGen:C2750734|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	0.056	.	0.4786	0.800519	0.5389	0.8744	0.7912	0.9899	0.1358	0.3358	0.5330	0.8978	0.490919	75897	154602	rs5743618	0.3478	0.3478	0.3322	0.3635	0.9891	0.3470	0.3467	0.9809	0.9775	0.8882	0.7620	0.5248	0.9891	0.1455	0.7954	0.2484	0.4321	0.8925	0.5230	0.5233	0.5155	0.5310	0.9882	0.5200	0.5187	0.9656	0.9564	0.8680	0.3374	0.6795	0.5378	0.9882	0.1309	0.7857	0.2742	0.5970	0.9061	1.0	0.00964	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.223979	0.03474	N	1.586730	1	0.08975	P	-2.455	0.00064	N	4.65	0.01779	T	2.33	0.00281	N	0.015	0.00203	-0.9814	0.34678	T	0.000	0.00011	T	9	1.5470836e-06	0.00003	T	.	.	.	0.056	0.15993	.	.	.	.	0.194904177424025	0.19408	0.0725892304128	0.08138	0.27531477809	0.06848	T	0.049442	0.28307	T	-0.808969	0.00007	T	-0.790984	0.02138	T	0.00365530579536446	0.00039	T	0.0535946	0.00383	T	0.052709427	0.09870	0.056038916	0.09939	0.052709427	0.09870	0.056038916	0.09939	1.962	0.00053	T	.	.	0.056	0.00496	B	.;.	.;.	0.550795	0.09195	5.976	0.10915785735844558	0.00150	0.04174	0.09671	N	AEFGBCI	0.072195	0.14400	N	-1.36048708973054	0.03017	0.134138	-1.14431403439413	0.06871	0.3322031	0.970372123348399	0.29203	0.631515	0.41029	0	0.697927	0.68747	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.43	2.76	0.31527	0.245000	0.17917	0.357000	0.17536	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4839:0.3908:0.0:0.1253	8.482	0.32208	653	0.62661	.;.	FAM114A1|FAM114A1|TLR6|TLR10|TLR1|TLR6|TLR1|TLR1|FAM114A1|TLR1|TLR1|FAM114A1|TLR6|TLR6|FAM114A1|TLR1|FAM114A1|FAM114A1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood	TLR1|TLR1|TLR10|TLR1|TLR1|TLR1|TLR1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Spleen|Whole_Blood	chr4:38798648	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.802115	0.868687	0.845109	0.918129	0.550000	0.758621	0.542683	0.757576	0.8333	24131.1	115	chr4	38797027	.	C	A	24131.1	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-0.925;DP=977;ExcessHet=0.4139;FS=0;MLEAC=11;MLEAF=0.917;MQ=53.59;MQRankSum=-8.314;QD=25.27;ReadPosRankSum=0.571;SOR=0.728	GT:AD:DP:GQ:PL	1/1:0,115:115:99:3671,345,0	0	4	2	1
chr4	71557873	71557873	T	C	exonic	SLC4A4	.	synonymous SNV	SLC4A4:NM_003759:exon19:c.T2793C:p.I931I,SLC4A4:NM_001098484:exon22:c.T2925C:p.I975I,SLC4A4:NM_001134742:exon22:c.T2925C:p.I975I	Renal tubular acidosis, proximal, with ocular abnormalities, Autosomal recessive	0	1503	17	2	0	21	0.00693756	.	.	.	764610	not_provided|Autosomal_recessive_proximal_renal_tubular_acidosis	MedGen:C3661900|MONDO:MONDO:0011422,MedGen:C1970309,OMIM:604278,Orphanet:93607	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	0.0002	0	0.0002	0	0.0008	0.0001	0.0011	0.0005	0.0001746	27	154602	rs143924311	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0	8.968e-05	7.669e-05	0	0.0007	0.0009	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0004	9.751e-05	8.265e-05	0.0001	7.904e-05	2.407e-05	0	0	0	0.0002	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	718.53	72	chr4	71557873	.	T	C	718.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.183;SOR=0.728	GT:AD:DP:GQ:PL	0/1:42,30:72:99:729,0,1012	6	0	1	0
chr4	112647203	112647203	G	C	exonic	LARP7	.	nonsynonymous SNV	LARP7:NM_001370974:exon7:c.G651C:p.E217D,LARP7:NM_001370975:exon7:c.G651C:p.E217D,LARP7:NM_001370976:exon7:c.G648C:p.E216D,LARP7:NM_001370977:exon7:c.G648C:p.E216D,LARP7:NM_001370979:exon7:c.G648C:p.E216D,LARP7:NM_001370980:exon7:c.G648C:p.E216D,LARP7:NM_001370981:exon7:c.G414C:p.E138D,LARP7:NM_001370982:exon7:c.G414C:p.E138D,LARP7:NM_015454:exon7:c.G651C:p.E217D,LARP7:NM_016648:exon7:c.G651C:p.E217D,LARP7:NM_001370978:exon8:c.G651C:p.E217D,LARP7:NM_001267039:exon9:c.G672C:p.E224D	Alazami syndrome, Autosomal recessive	10	1496	16	0	0	16	0.00531915	.	.	.	134925	not_specified|not_provided|Microcephalic_primordial_dwarfism,_Alazami_type	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014031,MedGen:C3554439,OMIM:615071,Orphanet:319671	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.198	.	0.0099	0.00559105	0.0097	0.0022	0.0052	0.0011	0.0094	0.0136	0.0047	0.0065	0.0023415	362	154602	rs141178932	0.0121	0.0120	0.0123	0.0118	0.0137	0.0119	0.0119	0.0135	0.0134	0.0015	0.0056	0.0060	0.0006	0.0117	0.0032	0.0137	0.0105	0.0069	0.0085	0.0085	0.0091	0.0078	0.0133	0.0081	0.0079	0.0126	0.0123	0.0022	0.0077	0.0076	0.0072	0.0008	0.0087	0.0034	0.0133	0.0066	0.0065	0.228	0.28646	T	0.177	0.29945	T	0.008	0.32716	B	0.018	0.33406	B	0.000001	0.84330	D	0.093413	0.986184	0.40393	D	2.455	0.71248	M	2.04	0.21473	T	-0.89	0.24676	N	0.328	0.37923	-1.0889	0.05718	T	0.038	0.16419	T	10	0.0063658953	0.00144	T	.	.	.	0.198	0.48105	0.185	0.09388	0.297375071883	0.29337	0.1758092334951329	0.17499	0.0602270496014	0.06694	0.57311630249	0.49118	T	0.018554	0.14935	T	-0.544642	0.00314	T	-0.540181	0.18278	T	0.0249290861594635	0.01264	T	0.858914	0.54988	D	0.116095506	0.27387	0.12622015	0.30401	0.10486272	0.24792	0.16355066	0.37933	-4.472	0.31162	T	0.1717743044242303	0.21670	0.112	0.21840	B	.;.;.;.	.;.;.;.	1.454125	0.18756	13.91	0.96127936962898208	0.28796	0.00002	0.00064	N	AEFDGBHCI	0.338721	0.43610	N	-0.574446023977567	0.19723	1.034493	-0.558821837168772	0.20572	1.108946	0.999999563779826	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.685571	0.62057	0	0.714379	0.83352	0	.	.	5.66	-3.96	0.03833	0.029000	0.13555	-0.403000	0.09398	-0.956000	0.02005	0.977000	0.34929	0.000000	0.08366	0.955000	0.50612	0.482:0.0:0.518:0.0	14.148	0.64894	783	0.47268	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005045	0.005051	0.002717	0.002941	0.000000	0.000000	0.003049	0.018939	0.07143	608.46	36	chr4	112647203	.	G	C	608.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.173;DP=211;ExcessHet=0;FS=1.409;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=0;SOR=1.23	GT:AD:DP:GQ:PL	0/1:13,23:36:99:619,0,347	6	0	1	0
chr4	113357664	113357664	G	A	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001148:exon38:c.G9046A:p.E3016K	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	.	189248	Cardiac_arrhythmia,_ankyrin-B-related|Long_QT_syndrome|not_provided|Cardiovascular_phenotype|Cardiomyopathy|not_specified	MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.132	0.0721024209244	0.0006	0.000399361	0.0005	0.0002	0.0008	0	0	0.0006	0.0022	0.0002	0.0004786	74	154602	rs149963885	0.0004	0.0004	0.0004	0.0004	0.0021	0.0004	0.0004	0.0012	0.0009	5.975e-05	0.0013	0.0001	0	3.744e-05	0.0021	0.0005	0.0006	0.0002	0.0005	0.0005	0.0006	0.0005	0.0020	0.0004	0.0004	0.0014	0.0012	7.216e-05	0	0.0020	0	0	0	0.0034	0.0006	0.0014	0.0006	0.597	0.15354	T	0.893	0.03390	T	.	.	.	.	.	.	0.899457	0.08630	N	0.947352	1	0.31186	N	1.845	0.48678	L	-0.16	0.95859	T	0.06	0.06253	N	0.057	0.11769	-0.0549	0.81102	T	0.655	0.88004	D	10	0.01516819	0.00318	T	0.072102	0.71444	D	0.132	0.35948	.	.	0.558971769579	0.55558	0.10556884659296208	0.10486	0.0879859507346	0.09938	0.234280914068	0.02300	T	0.283429	0.65619	T	-0.271322	0.11609	T	-0.208064	0.53881	T	0.00557777982553571	0.00061	T	0.708229	0.32946	T	0.04583391	0.07571	0.038501814	0.03732	0.042629305	0.06500	0.03407378	0.02409	-4.449	0.30216	T	0.17444757711381306	0.22155	0.070	0.03407	B	.;.;.	.;.;.	0.795848	0.11661	8.247	0.15108112899133247	0.00358	0.43375	0.27084	N	AEFBI	0.203660	0.33016	N	-0.987000899873783	0.08880	0.4181224	-1.00596034638391	0.09654	0.4815393	0.999817862350144	0.43459	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.52	2.77	0.31614	1.507000	0.35365	2.061000	0.30394	-0.119000	0.14319	0.067000	0.21986	0.046000	0.21717	0.001000	0.02609	0.0793:0.147:0.7737:0.0	9.088	0.35755	637	0.64373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.008152	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	1113.44	108	chr4	113357664	.	G	A	1113.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.693;DP=304;ExcessHet=0;FS=0.723;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=1.65;SOR=0.586	GT:AD:DP:GQ:PL	0/1:60,48:108:99:1124,0,1527	6	0	1	0
chr4	153703504	153703504	T	C	exonic	TLR2	.	synonymous SNV	TLR2:NM_001318789:exon3:c.T597C:p.N199N,TLR2:NM_001318790:exon3:c.T597C:p.N199N,TLR2:NM_001318791:exon3:c.T597C:p.N199N,TLR2:NM_001318793:exon3:c.T597C:p.N199N,TLR2:NM_001318795:exon3:c.T597C:p.N199N,TLR2:NM_001318796:exon3:c.T597C:p.N199N,TLR2:NM_003264:exon3:c.T597C:p.N199N,TLR2:NM_001318787:exon4:c.T597C:p.N199N	.	433	374	514	201	0	916	0.550481	.	.	.	3197327	TLR2-related_disorder|COVID-19–associated_multisystem_inflammatory_syndrome_in_adults	.|MONDO:MONDO:0100319,MedGen:CN305503	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4947	0.414736	0.4113	0.6113	0.3166	0.2941	0.3755	0.4353	0.3833	0.3322	0.410745	63502	154602	rs3804099	0.4315	0.4315	0.4342	0.4288	0.6172	0.4306	0.4302	0.6102	0.6073	0.6172	0.3330	0.4315	0.3037	0.3765	0.4539	0.4448	0.4302	0.3318	0.4694	0.4697	0.4773	0.4612	0.6193	0.4665	0.4653	0.6129	0.6103	0.6193	0.3282	0.3800	0.4441	0.2870	0.3791	0.4592	0.4393	0.4748	0.3266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.447130	0.444444	0.479620	0.485380	0.650000	0.500000	0.384146	0.409091	0.6667	10586.5	85	chr4	153703504	.	T	C	10586.5	.	AC=8;AF=0.667;AN=12;DP=467;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.75;MQ=60;QD=28.69;SOR=0.754	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2356,255,0	2	4	0	1
chr4	168685497	168685497	A	T	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001166109:exon5:c.A127T:p.T43S,PALLD:NM_001166108:exon6:c.A1273T:p.T425S,PALLD:NM_016081:exon6:c.A1273T:p.T425S	.	423	1068	30	1	0	32	0.0147601	.	.	.	133552	Pancreatic_cancer,_susceptibility_to,_1|not_provided|not_specified	MONDO:MONDO:0011739,MedGen:C1847351,OMIM:606856,Orphanet:1333|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	.	0.0041	0.000998403	0.0045	0.0005	0.0014	0	0.0003	0.0052	0.0055	0.0104	0.0043078	666	154602	rs140454899	0.0045	0.0046	0.0042	0.0048	0.0151	0.0044	0.0044	0.0125	0.0116	0.0006	0.0014	0.0171	0	0.0002	0.0151	0.0042	0.0046	0.0117	0.0033	0.0033	0.0033	0.0033	0.0122	0.0031	0.0030	0.0097	0.0088	0.0006	0	0.0012	0.0170	0	0.0003	0.0136	0.0048	0.0033	0.0122	0.045	0.56456	D	0.214	0.51421	T	.	.	.	.	.	.	0.005513	0.32736	U	0.000000	0.99029	0.41128	D	2.52	0.73523	M	-0.2	0.90679	T	-2.06	0.63438	N	0.483	0.52563	0.256	0.86843	D	0.705	0.89845	D	10	0.008006901	0.00182	T	.	.	.	0.406	0.71869	0.395	0.42099	0.730755731289	0.72836	0.32164990047811104	0.32077	0.224784248059	0.25013	0.341352850199	0.16640	T	0.037637	0.43041	T	-0.19593	0.21392	T	-0.0438291	0.67442	D	0.0487915056048183	0.05286	T	0.638236	0.40827	T	.	.	.	.	.	.	.	.	-6.342	0.53380	T	.	.	0.132	0.35972	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.119230	0.42106	21.5	0.99499971366976614	0.67973	0.98482	0.83244	D	AEFGBCI	0.620054	0.60526	D	0.378125725395134	0.60238	4.210615	0.368675571032923	0.59639	4.143637	0.999999989579635	0.74766	0.638212	0.43195	0	0.48864	0.07623	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.77	4.59	0.56297	4.575000	0.60619	7.045000	0.57350	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.9313:0.0:0.0687:0.0	11.751	0.51117	968	0.07033	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.010870	0.005848	0.000000	0.000000	0.018293	0.026515	0.07143	1133.44	100	chr4	168685497	.	A	T	1133.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.695;DP=281;ExcessHet=0;FS=4.976;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.769;SOR=1.182	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1144,0,1138	6	0	1	0
chr5	256320	256321	CT	-	intronic	SDHA	.	.	.	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	2	837	682	1	0	684	0.290076	.	.	.	297301	SDHA-related_disorder|Mitochondrial_complex_II_deficiency,_nuclear_type_1|not_provided|Leigh_syndrome|Paragangliomas_5|Pheochromocytoma|Hereditary_cancer-predisposing_syndrome|not_specified	.|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	8.255e-06	0	0	0	0	1.499e-05	0	0	0.0031889	83	26028	rs372662724	0.0587	0.1488	0.0629	0.0545	0.0712	0.0583	0.0582	0.0708	0.0706	0.0457	0.0112	0.0178	0.0073	0.0091	0.0398	0.0712	0.0454	0.0146	0.0009	0.0171	0.0008	0.0010	0.0012	0.0007	0.0007	0.0009	0.0008	0.0012	0.0012	0.0010	0.0003	0.0004	0.0010	0.0035	0.0007	0.0016	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	318.25	97	chr5	256319	.	ACT	A	318.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.262;DP=345;ExcessHet=0.3476;FS=0.838;MLEAC=2;MLEAF=0.143;MQ=58.26;MQRankSum=-9.752;QD=1.55;ReadPosRankSum=1.86;SOR=0.569	GT:AD:DP:GQ:PL	0/1:83,14:97:99:253,0,3424	5	0	2	0
chr5	1293652	1293652	G	A	exonic	TERT	.	nonsynonymous SNV	TERT:NM_001193376:exon2:c.C1234T:p.H412Y,TERT:NM_198253:exon2:c.C1234T:p.H412Y	.	0	1520	2	0	0	2	0.000657462	.	.	.	27769	Autosomal_recessive_dyskeratosis_congenita_4|Acute_myeloid_leukemia|Melanoma,_cutaneous_malignant,_susceptibility_to,_9|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_1|Dyskeratosis_congenita,_autosomal_dominant_2|Aplastic_anemia|not_provided|not_specified|Idiopathic_Pulmonary_Fibrosis|Dyskeratosis_congenita	MONDO:MONDO:0027353,MedGen:C3151444|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0014056,MedGen:C3554574,OMIM:615134,Orphanet:618|MONDO:MONDO:0013878,MedGen:C3553617,OMIM:614742,Orphanet:88|MONDO:MONDO:0013521,MedGen:C3151443,OMIM:613989|Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88|MedGen:C3661900|MedGen:CN169374|MeSH:D054990,MedGen:C1800706|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.672	.	0.0031	0.000599042	0.0063	0.0011	0	0	0.0119	0.0153	0	0.0004	0.0022703	351	154602	rs34094720	0.0047	0.0046	0.0048	0.0045	0.0052	0.0046	0.0045	0.0051	0.0050	0.0006	0.0010	0.0187	0	0.0011	0.0016	0.0052	0.0055	0.0006	0.0031	0.0031	0.0033	0.0028	0.0049	0.0028	0.0028	0.0045	0.0043	0.0009	0	0.0010	0.0170	0	0.0012	0	0.0049	0.0028	0.0004	0.65	0.09291	T	0.063	0.69154	T	0.998	0.73220	D	0.897	0.63631	P	0.017468	0.27716	N	0.406844	0.785703	0.29283	N	2.745	0.80253	M	-4.1	0.96659	D	-2.11	0.50830	N	0.435	0.47395	0.562	0.91397	D	0.883	0.96129	D	10	0.017623723	0.00377	T	.	.	.	0.672	0.87868	.	.	0.946339547969	0.94577	0.6373800739135487	0.63672	1.3455023119	0.83972	0.540219426155	0.44476	T	0.401299	0.75864	T	-0.0616391	0.42650	T	0.139499	0.79514	D	0.021857680025102	0.00892	T	0.846715	0.52677	T	0.06016722	0.12314	0.07316676	0.15868	0.053103577	0.10001	0.08059538	0.18244	-7.025	0.55244	T	0.3458976010089355	0.44340	0.080	0.30686	B	.;.	.;.	2.489896	0.32122	18.95	0.99560553144639574	0.71769	0.50695	0.28723	D	AEFDBCI	0.171312	0.29827	N	-0.280039008071305	0.29920	1.663548	-0.330823205496057	0.27109	1.501964	0.999666362284758	0.41534	0.646311	0.45356	0	0.541556	0.11502	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.38	2.32	0.27895	0.551000	0.23068	3.475000	0.38608	0.665000	0.62972	0.219000	0.24524	1.000000	0.68203	0.064000	0.16252	0.1098:0.0:0.6084:0.2818	6.622	0.22004	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001538	0.000000	0.000000	0.000000	0.000000	0.008772	0.003145	0.003817	0.07143	905.46	53	chr5	1293652	.	G	A	905.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.118;DP=234;ExcessHet=0;FS=1.087;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=0.587;SOR=0.596	GT:AD:DP:GQ:PL	0/1:20,33:53:99:916,0,447	6	0	1	0
chr5	38528850	38528851	AC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303937	not_provided|Stuve-Wiedemann_syndrome|Stüve-Wiedemann_syndrome_1	MedGen:C3661900|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MONDO:MONDO:0800043,MedGen:C5676888,OMIM:601559,Orphanet:3206	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3454	0.2017	0.3103	0.2720	0.2788	0.3796	0.3684	0.3566	0.0001423	22	154602	rs34759137	0.2992	0.3291	0.2912	0.3066	0.3471	0.2982	0.2977	0.3382	0.3366	0.1605	0.2828	0.4123	0.2437	0.3501	0.3471	0.2931	0.3145	0.3421	0.3263	0.3064	0.3244	0.3283	0.4408	0.3237	0.3227	0.4237	0.4168	0.1328	0.3872	0.3252	0.5692	0.3125	0.3579	0.4286	0.4208	0.3804	0.4408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1427.23	10	chr5	38528849	.	GAC	G	1427.23	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0;DP=179;ExcessHet=2.3007;FS=1.653;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0;SOR=0.49	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,3:10:58:0|1:38528849_GAC_G:58,0,285:38528849	1	1	4	1
chr5	42711274	42711274	G	A	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon5:c.G620A:p.R207H,GHR:NM_001242406:exon6:c.G686A:p.R229H,GHR:NM_001242462:exon6:c.G686A:p.R229H,GHR:NM_000163:exon7:c.G686A:p.R229H,GHR:NM_001242399:exon7:c.G707A:p.R236H,GHR:NM_001242402:exon7:c.G686A:p.R229H,GHR:NM_001242403:exon7:c.G686A:p.R229H,GHR:NM_001242404:exon7:c.G686A:p.R229H,GHR:NM_001242405:exon7:c.G686A:p.R229H,GHR:NM_001242400:exon8:c.G686A:p.R229H,GHR:NM_001242401:exon8:c.G686A:p.R229H	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	265893	not_provided|not_specified|Short_stature_due_to_partial_GHR_deficiency|Laron-type_isolated_somatotropin_defect	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811|MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.808	0.0891640989754	0.0011	0.000798722	0.0013	0.0007	0.0013	0	0	0.0011	0.0022	0.0038	0.0011966	185	154602	rs6177	0.0008	0.0009	0.0007	0.0010	0.0080	0.0008	0.0008	0.0062	0.0055	0.0009	0.0014	0.0015	0	0	0.0080	0.0006	0.0016	0.0035	0.0008	0.0008	0.0007	0.0009	0.0017	0.0007	0.0006	0.0008	0.0006	0.0006	0.0011	0.0010	0.0023	0	9.427e-05	0.0102	0.0008	0.0024	0.0017	0.0	0.91255	D	0.318	0.76473	T	0.999	0.77913	D	0.703	0.54270	P	0.000004	0.62929	D	0.059628	1	0.81001	D	1.8	0.47472	L	-3.4	0.94260	D	-2.04	0.46842	N	0.533	0.63883	0.668	0.92766	D	0.814	0.93719	D	10	0.017771393	0.00381	T	0.089164	0.75273	D	0.808	0.93777	.	.	0.962138920921	0.96173	0.5664631436302645	0.56574	0.0555361329645	0.06140	0.433992952108	0.29755	T	0.410939	0.76553	T	0.124364	0.66809	D	0.404074	0.92243	D	0.0636626687296192	0.07732	T	0.977402	0.93081	D	0.6612151	0.75964	0.4502998	0.68010	0.6490725	0.75316	0.49604318	0.70857	-10.171	0.74929	D	0.5075309644939106	0.58176	0.183	0.48551	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.881359	0.80062	27.2	0.99934152013492705	0.99535	0.94192	0.60392	D	AEFI	0.757768	0.69662	D	0.565633455196316	0.71040	5.590686	0.577758325565778	0.73350	5.955826	0.999580486071164	0.40607	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	4.957000	0.63358	7.492000	0.59381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91844	496	0.76301	Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.014946	0.005848	0.050000	0.000000	0.006098	0.000000	0.1429	2076.65	74	chr5	42711274	.	G	A	2076.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.46;DP=326;ExcessHet=0.3476;FS=3.317;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.79;SOR=0.62	GT:AD:DP:GQ:PL	0/1:38,36:74:99:763,0,823	5	0	2	0
chr5	87363477	87363477	A	G	exonic	RASA1	.	nonsynonymous SNV	RASA1:NM_002890:exon11:c.A1583G:p.Y528C,RASA1:NM_022650:exon11:c.A1052G:p.Y351C	Basal cell carcinoma, somatic;Capillary malformation-arteriovenous malformation, Autosomal dominant;Parkes Weber syndrome	4	1489	29	0	0	29	0.00964416	.	.	.	304960	not_provided|Capillary_malformation-arteriovenous_malformation_1|Parkes_Weber_syndrome|RASA1-related_disorder|not_specified|Capillary_malformation-arteriovenous_malformation_syndrome|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667,Orphanet:90307|MedGen:C5574870,Orphanet:2346|.|MedGen:CN169374|MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.944	0.448378663713	0.0003	0.000998403	0.0016	0	0.0005	0.0002	0	0.0006	0	0.0093	0.0014683	227	154602	rs145752649	0.0012	0.0012	0.0010	0.0015	0.0099	0.0012	0.0012	0.0094	0.0091	0.0004	0.0005	0.0004	5.057e-05	0	0.0066	0.0007	0.0013	0.0099	0.0007	0.0007	0.0005	0.0008	0.0081	0.0006	0.0005	0.0061	0.0054	9.63e-05	0	0.0009	0.0003	0	0	0.0034	0.0007	0.0005	0.0081	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.11	0.58565	M	-0.94	0.75325	T	-6.18	0.90294	D	0.807	0.92550	0.162	0.85267	D	0.549	0.83460	D	10	0.03353712	0.01533	T	0.448379	0.94296	D	0.944	0.98851	.	.	0.940034697642	0.93941	0.7033443205072765	0.70275	2.04020034352	0.94242	0.915937066078	0.97999	D	0.816096	0.95454	D	0.0689449	0.60721	T	0.332939	0.89631	D	0.0660348523251774	0.08083	T	0.983002	0.95536	D	0.7093577	0.78572	0.64056164	0.79001	0.70451236	0.78305	0.60470366	0.77024	-9.339	0.69852	D	.	.	0.516	0.65297	A	.;.;.;.	.;.;.;.	4.860222	0.79530	27.1	0.99825743831912561	0.90764	0.98749	0.86360	D	AEFBI	0.926134	0.90676	D	0.781349756435156	0.84924	8.426184	0.771408940963608	0.87744	9.329597	0.999999992526965	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	5.58	0.84361	9.283000	0.95023	9.388000	0.80560	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.754	0.77779	608	0.67185	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	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	0	0	0.005544	0.000000	0.000000	0.005882	0.000000	0.017241	0.003049	0.018939	0.07143	239.63	29	chr5	87363477	.	A	G	239.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.415;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=1.89;SOR=0.836	GT:AD:DP:GQ:PL	0/1:16,13:29:99:250,0,340	6	0	1	0
chr5	127422705	127422705	C	T	exonic	MEGF10	.	synonymous SNV	MEGF10:NM_001256545:exon13:c.C1626T:p.C542C,MEGF10:NM_001308121:exon13:c.C1626T:p.C542C,MEGF10:NM_001308119:exon14:c.C1626T:p.C542C,MEGF10:NM_032446:exon14:c.C1626T:p.C542C	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, Autosomal recessive;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	251628	not_specified|MEGF10-related_myopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0013731,MedGen:C3280679,OMIM:614399,Orphanet:439212|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0022	0.000399361	0.0010	0.0007	0.0002	0	0.0003	0.0016	0	0.0001	0.0011255	174	154602	rs146902993	0.0023	0.0023	0.0024	0.0022	0.0028	0.0022	0.0022	0.0027	0.0027	0.0004	0.0003	3.827e-05	5.038e-05	0.0002	0.0005	0.0028	0.0022	3.478e-05	0.0013	0.0013	0.0013	0.0012	0.0024	0.0011	0.0011	0.0021	0.0020	0.0004	0	0.0006	0	0	0.0002	0	0.0024	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	1098.63	93	chr5	127422705	.	C	T	1098.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.17;DP=273;ExcessHet=0;FS=3.878;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.281;SOR=0.723	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1109,0,976	6	0	1	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	451	281	404	386	0	1176	0.67664	.	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.546324	0.454545	0.528533	0.593567	0.550000	0.560345	0.573171	0.606061	0.5714	6818.76	72	chr5	138556481	.	G	A	6818.76	.	AC=8;AF=0.571;AN=14;BaseQRankSum=0.518;DP=470;ExcessHet=1.4958;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-0.124;SOR=0.656	GT:AD:DP:GQ:PL	0/1:38,34:72:99:763,0,856	1	2	4	0
chr5	138810106	138810106	A	G	exonic	CTNNA1	.	startloss	CTNNA1:NM_001290309:exon3:c.A61G:p.M21V,CTNNA1:NM_001290307:exon4:c.A370G:p.M124V,CTNNA1:NM_001290310:exon4:c.A1G:p.M1?,CTNNA1:NM_001323983:exon4:c.A370G:p.M124V,CTNNA1:NM_001323985:exon4:c.A370G:p.M124V,CTNNA1:NM_001323986:exon4:c.A370G:p.M124V,CTNNA1:NM_001903:exon4:c.A370G:p.M124V,CTNNA1:NM_001323982:exon5:c.A370G:p.M124V,CTNNA1:NM_001323984:exon5:c.A370G:p.M124V	Macular dystrophy, patterned, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	633295	Hereditary_cancer-predisposing_syndrome|not_provided|Patterned_macular_dystrophy_2	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0012162,MedGen:C1837029,OMIM:608970,Orphanet:99001	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.268	0.0233129120605	.	.	9.884e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs765587517	4.652e-05	4.652e-05	2.995e-05	6.325e-05	0.0005	3.727e-05	3.411e-05	0.0004	0.0004	0	0.0001	0	0	0	0.0005	1.079e-05	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.12878	T	0.248	0.26631	T	0.213	0.36465	B	0.054	0.39041	B	0.000000	0.84330	D	0.036402	1	0.81001	D	1.645	0.42016	L	1.2	0.40218	T	-2.49	0.54217	N	0.908	0.91162	-1.0925	0.05128	T	0.073	0.29483	T	9	0.20904067	0.37253	T	0.023313	0.46264	T	0.268	0.58254	.	.	0.785977951389	0.78399	0.637054760766422	0.63639	0.176751591813	0.19889	0.813790917397	0.84074	D	0.024346	0.56621	T	-0.144869	0.29119	T	-0.109612	0.62643	T	0.138025102675103	0.16103	T	0.855114	0.54241	D	0.47510016	0.65602	0.2862423	0.54632	0.47510016	0.65603	0.2862423	0.54631	-10.257	0.75436	D	0.1361440388761604	0.14863	0.453	0.67246	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.685799	0.52486	23.2	0.97570515879833675	0.34675	0.95645	0.65555	D	AEFGBCI	0.962522	0.98414	D	0.0686240171773444	0.45004	2.764296	0.233094474013113	0.51692	3.349655	0.999921300745734	0.46280	0.736574	0.97449	0	0.724815	0.89359	0	0.724815	0.87919	0	0.677812	0.66336	0	.	.	5.62	4.44	0.53164	7.508000	0.80566	9.441000	0.80828	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8694:0.0:0.0:0.1306	11.933	0.52139	.	.	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	716.46	53	chr5	138810106	.	A	G	716.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.191;DP=225;ExcessHet=0;FS=5.893;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.164;SOR=1.435	GT:AD:DP:GQ:PL	0/1:21,32:53:99:727,0,441	6	0	1	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	5	101	508	907	1	2323	0.919968	.	.	.	54134	Woolly_hair-skin_fragility_syndrome|not_provided|DSP-related_disorder|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Cardiovascular_phenotype|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|.|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.767875	0.792929	0.766304	0.698830	0.800000	0.810345	0.829268	0.704545	0.8571	44484.1	201	chr6	7585734	.	G	C	44484.1	.	AC=12;AF=0.857;AN=14;BaseQRankSum=4.13;DP=1788;ExcessHet=0.3476;FS=1.421;MLEAC=12;MLEAF=0.857;MQ=60;MQRankSum=0;QD=25.65;ReadPosRankSum=1.19;SOR=0.851	GT:AD:DP:GQ:PL	1/1:0,201:201:99:6681,603,0	0	5	2	0
chr6	26090951	26090951	C	G	exonic	HFE	.	nonsynonymous SNV	HFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_001384164:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D	Hemochromatosis, Autosomal recessive	2	1194	302	24	0	350	0.127831	.	.	YES	15049	Familial_porphyria_cutanea_tarda|Hemochromatosis_type_1|TRANSFERRIN_SERUM_LEVEL_QUANTITATIVE_TRAIT_LOCUS_2|Variegate_porphyria|Microvascular_complications_of_diabetes,_susceptibility_to,_7|Alzheimer_disease|See_cases|Cystic_fibrosis|not_provided|Cardiomyopathy|Bronze_diabetes|Hereditary_hemochromatosis|not_specified	MONDO:MONDO:0008296,MedGen:C0268323,OMIM:176100,Orphanet:101330,Orphanet:443062|MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:139498,Orphanet:465508|MedGen:C3280096,OMIM:614193|MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473|MONDO:MONDO:0012971,MedGen:C2673520,OMIM:612635|Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020|.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C0018995|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.315	.	0.1107	0.0730831	0.1066	0.0290	0.0959	0.0365	0.1031	0.1368	0.1300	0.0779	0.109171	16878	154602	rs1799945	0.1351	0.1352	0.1361	0.1341	0.1501	0.1346	0.1344	0.1495	0.1493	0.0276	0.1031	0.1163	0.0312	0.1058	0.1222	0.1501	0.1248	0.0795	0.1015	0.1017	0.1038	0.0991	0.1503	0.1002	0.0996	0.1479	0.1469	0.0296	0.0724	0.1099	0.1208	0.0269	0.0959	0.1054	0.1503	0.1297	0.0773	0.016	0.51853	D	0.146	0.40426	T	0.147	0.64070	B	0.083	0.62698	B	0.346540	0.13882	N	0.680049	1	0.08975	P	1.79	0.46772	L	-2.42	0.88611	D	-1.23	0.45769	N	0.299	0.37301	0.103	0.84222	D	0.631	0.87050	D	9	0.0015847087	0.00018	T	.	.	.	0.315	0.63694	.	.	.	.	0.9919645876196251	0.99192	0.986908435057	0.73940	0.511884570122	0.40485	T	0.131905	0.46168	T	-0.287491	0.09890	T	-0.0676057	0.65796	T	0.012003537063212	0.00189	T	0.564244	0.19889	T	0.44828805	0.63933	0.3678599	0.62087	0.5796515	0.71590	0.30211145	0.56242	-3.758	0.33991	T	0.5987737628714522	0.66574	0.333	0.67715	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.087160	0.41550	21.4	0.98505846847621126	0.42276	0.07898	0.13886	N	AEFDBI	0.078262	0.15787	N	-0.213524220581138	0.32577	1.838779	-0.257839665235987	0.29501	1.653376	0.989988003865806	0.31999	0.623552	0.39893	0	0.588066	0.40923	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	5.3	3.51	0.39297	1.868000	0.39146	3.701000	0.39526	0.599000	0.40250	0.744000	0.29069	1.000000	0.68203	0.993000	0.69303	0.175:0.7358:0.0:0.0892	6.685	0.22327	500	0.76024	.;.;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;.;.;MHC class I-like antigen recognition-like	U91328.19|HFE|BTN2A3P|SLC17A1|SLC17A3|GUSBP2|HFE|HFE|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HFE|HFE|HIST1H3E|HFE|HFE|HIST1H3E|SLC17A3|HFE|RP11-457M11.5|HIST1H3E|HFE|HIST1H3E|HFE|HFE|HFE|HFE|HFE|HIST1H3E|TRIM38|HFE|HIST1H3E|HIST1H3E	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	HFE	Cells_Cultured_fibroblasts	rs1799945	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.119839	0.181818	0.100543	0.166667	0.000000	0.155172	0.121951	0.079545	0.2143	4577.76	94	chr6	26090951	.	C	G	4577.76	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.938;DP=498;ExcessHet=1.1394;FS=1.209;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.866;SOR=0.717	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1144,0,1299	4	0	3	0
chr6	31928932	31928932	T	G	intronic	C2	.	.	.	C2 deficiency, Autosomal recessive	1	1490	28	3	0	34	0.0112807	.	.	.	896217	not_provided|Age_related_macular_degeneration_14|Complement_component_2_deficiency	MedGen:C3661900|MONDO:MONDO:0014207,MedGen:C3809653,OMIM:615489|MONDO:MONDO:0009006,MedGen:C3150275,OMIM:217000	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	9.718e-05	0.0004	0	0	0.0001	0	0.0002	0.00011	17	154602	rs776839411	0.0001	0.0001	0.0001	0.0001	0.0056	0.0001	0.0001	0.0040	0.0035	2.993e-05	0.0004	0.0002	0	0	0.0056	9.223e-05	0.0002	0.0001	7.22e-05	7.217e-05	3.854e-05	0.0001	0.0001	3.967e-05	3.124e-05	4.725e-05	3.044e-05	0.0001	0	0	0	0	0	0.0034	5.88e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	529.53	42	chr6	31928932	.	T	G	529.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.182;DP=216;ExcessHet=0;FS=2.652;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.08;SOR=0.376	GT:AD:DP:GQ:PL	0/1:20,22:42:99:540,0,483	6	0	1	0
chr6	32039081	32039081	C	A	UTR5	CYP21A2	NM_001368143:c.-126C>A;NM_001368144:c.-126C>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	9	182	648	678	5	2009	0.846284	.	.	YES	193439	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	0.6293	0.650759	0.7060	0.7281	0.7932	0.7161	0.6224	0.7014	0.6834	0.6705	0.588071	90917	154602	rs6467	0.5950	0.5925	0.5939	0.5962	0.7333	0.5940	0.5935	0.7265	0.7237	0.6439	0.7333	0.6468	0.6576	0.4707	0.6835	0.5882	0.6013	0.6165	0.6088	0.6089	0.6127	0.6048	0.7113	0.6055	0.6042	0.7001	0.6955	0.6364	0.6394	0.7113	0.6359	0.6316	0.4363	0.6130	0.5918	0.6460	0.5973	0.313	0.13879	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-0.3	0.67874	T	0.4	0.03463	N	.	.	-1.0318	0.19873	T	0.093	0.35444	T	5	1.7294652e-06	0.00003	T	.	.	.	0.034	0.08419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.636234	0.00088	T	-0.542863	0.18016	T	0.00180369962629931	0.00018	T	0.226077	0.02982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05535	B	.	.	0.164705	0.05545	2.006	0.43740471587862012	0.03314	0.00179	0.01050	N	AEFBI	0.087333	0.17709	N	-1.19446011224149	0.05083	0.2309094	-1.36986281538789	0.03577	0.1671443	1.13245368839307E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	3.06	-0.591	0.11090	-0.233000	0.09056	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1987:0.5349:0.1383:0.1281	3.239	0.06373	923	0.18507	.	TCF19|C4A|CYP21A2|HLA-DRB9|HLA-DRB5|C4A|CYP21A1P|TNXA|HLA-DRB5|TNXA|CFB|MICB|C6orf48|CFB|C4A|CYP21A1P|HLA-DRB5|MICB|C4A|C4A|HLA-DRB9|HLA-DRB5|HLA-DOB|HLA-DMB|MICB|DDAH2|C4A|C4B|PSMB9|HLA-DRB5|HLA-DRB5|C4A|HLA-DRB5|PSORS1C1|MICB|LY6G6C|C4A|HLA-DRB5|C4A|C4A|HLA-DRB5|HLA-DRB5|MICB|TNXA|HLA-DRB5|MICB|C4A|HLA-DRB5|C4A|CYP21A1P|HLA-DRB5|C4A|TNXA|CYP21A2|HLA-DRB5|C6orf48|C4A|C4B|HLA-DRB5|MICB|MSH5|C6orf48|C4A|C4B|HLA-DRB5|C4A|TNXA|TAP1|HCG22|MICB|C4A|CYP21A1P|HLA-DRB9|HLA-DRB5|HLA-DMA|C4A|C4A|C4B|HLA-DRB5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	DXO|HLA-DRB5|HLA-DRB6|HLA-DRB1|VARS|VARS|C6orf15|CDSN|DXO|HLA-DQA1|DXO|CYP21A1P|CYP21A2	Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Cerebellum|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis	rs6467	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.8571	9493.28	43	chr6	32039081	.	C	A	9493.28	.	AC=12;AF=0.857;AN=14;BaseQRankSum=1.55;DP=364;ExcessHet=0.3476;FS=1.313;MLEAC=12;MLEAF=0.857;MQ=59.97;MQRankSum=0;QD=26.44;ReadPosRankSum=1.21;SOR=0.552	GT:AD:DP:GQ:PL	0/1:12,31:43:99:813,0,196	0	5	2	0
chr6	32041874	32041874	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1817A:p.S606N,TNXB:NM_001365276:exon43:c.G12530A:p.S4177N,TNXB:NM_019105:exon43:c.G12524A:p.S4175N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	156	1167	186	13	0	212	0.0832679	.	.	.	188198	not_specified|not_provided|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.224	.	.	.	0.2369	0.3095	0.2	0.1429	0	0.2778	0.1795	0.2191	0.0010758	28	26028	rs199953230	0.0630	0.0905	0.0592	0.0664	0.1302	0.0624	0.0622	0.1249	0.1228	0.1302	0.0596	0.1009	0.0097	0.0564	0.0714	0.0578	0.0619	0.1021	0.0672	0.1011	0.0661	0.0684	0.1241	0.0658	0.0652	0.1200	0.1183	0.1241	0.0690	0.0633	0.0770	0.0199	0.0294	0.0337	0.0503	0.0673	0.0711	0.551	0.14996	T	1.0	0.01155	T	.	.	.	.	.	.	0.000041	0.53742	N	0.000000	1	0.08975	N	.	.	.	-1.13	0.77719	T	1.79	0.01121	N	0.06	0.07125	-1.0357	0.18637	T	0.077	0.30737	T	10	0.001997441	0.00028	T	.	.	.	0.224	0.52174	.	.	.	.	0.07582235178256264	0.07518	1.53742651601	0.87669	0.813815176487	0.84078	D	0.002058	0.01461	T	-0.234486	0.16060	T	-0.574599	0.15031	T	0.00591933667003544	0.00065	T	0.0176649	0.00099	T	0.06130841	0.12681	0.061310552	0.11818	0.06130841	0.12681	0.061310552	0.11817	-1.845	0.03461	T	0.1229657868823964	0.11852	0.050	0.00315	B	.;.;.;.;.	.;.;.;.;.	1.709254	0.21764	15.34	0.88167499122725401	0.17767	0.04006	0.09432	N	AEFGI	0.064479	0.12523	N	-0.809593627523601	0.13065	0.6410341	-0.628300974256214	0.18767	1.004015	0.0322796501112813	0.14047	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	0.728000	0.25682	.	.	-0.113000	0.14837	0.000000	0.06391	1.000000	0.68203	0.988000	0.63387	0.0:0.1752:0.0:0.8248	7.621	0.27353	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.162000	0.108696	0.195067	0.092593	0.000000	0.112903	0.107692	0.212329	0.1	90.18	12	chr6	32041874	.	C	T	90.18	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.093;DP=103;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=30.77;MQRankSum=-0.875;QD=7.51;ReadPosRankSum=1.3;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,3:12:99:0|1:32041857_C_T:99,0,356:32041857	4	0	1	2
chr6	32041884	32041884	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1807A:p.D603N,TNXB:NM_001365276:exon43:c.G12520A:p.D4174N,TNXB:NM_019105:exon43:c.G12514A:p.D4172N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	196	1075	234	17	0	268	0.110835	.	.	.	188199	not_provided|not_specified|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.573	.	.	.	0.3540	0.3552	0.2576	0.2614	0.25	0.3279	0.3235	0.3705	0.0028815	75	26028	rs200523717	0.0936	0.1128	0.0868	0.0996	0.1959	0.0929	0.0926	0.1926	0.1913	0.1491	0.0685	0.1155	0.0517	0.0767	0.0855	0.0816	0.0909	0.1959	0.0934	0.1198	0.0902	0.0970	0.1735	0.0916	0.0909	0.1588	0.1531	0.1512	0.0543	0.0817	0.0987	0.0567	0.0481	0.0455	0.0740	0.0915	0.1735	0.0	0.91255	D	0.013	0.65728	D	.	.	.	.	.	.	0.000063	0.52346	D	0.000000	0.996006	0.53665	D	.	.	.	-2.09	0.86077	D	-3.33	0.76655	D	0.197	0.60241	0.625	0.92223	D	0.742	0.91206	D	10	0.008031756	0.00182	T	.	.	.	0.573	0.82686	.	.	.	.	0.6407622812908406	0.64011	2.90588491431	0.99094	0.832190692425	0.86898	D	0.145862	0.48318	T	-0.011318	0.50081	T	-0.254034	0.49419	T	0.0173785942299874	0.00476	T	0.856614	0.67171	D	0.72789073	0.79605	0.6560945	0.79863	0.72789073	0.79606	0.6560945	0.79864	-9.574	0.71400	D	0.1226877263887742	0.11790	0.685	0.72405	P	.;.;.;.;.	.;.;.;.;.	5.229507	0.87781	29.4	0.99892685643528023	0.96666	0.96837	0.71207	D	AEFGI	0.734139	0.68036	D	0.721571237210364	0.81047	7.431562	0.669935722984053	0.80102	7.224991	0.998872174677663	0.37868	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	5.028000	0.63895	.	.	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.619	0.84780	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.190000	0.125000	0.195980	0.058140	0.000000	0.171875	0.163793	0.272059	0.1	96.16	10	chr6	32041884	.	C	T	96.16	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.331;DP=89;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=31.47;MQRankSum=-1.054;QD=9.62;ReadPosRankSum=0.648;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,3:10:99:0|1:32041857_C_T:105,0,285:32041857	4	0	1	2
chr6	56640283	56640283	G	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon4:c.C739G:p.P247A,DST:NM_015548:exon4:c.C739G:p.P247A,DST:NM_001374729:exon14:c.C1717G:p.P573A,DST:NM_001374730:exon14:c.C1717G:p.P573A,DST:NM_183380:exon14:c.C1717G:p.P573A,DST:NM_001144770:exon15:c.C1837G:p.P613A,DST:NM_001144769:exon17:c.C2251G:p.P751A,DST:NM_001374722:exon18:c.C2350G:p.P784A,DST:NM_001374734:exon18:c.C2377G:p.P793A,DST:NM_001374736:exon18:c.C2350G:p.P784A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	2	1475	43	2	0	47	0.0156823	.	.	.	308408	DST-related_disorder|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided|Inborn_genetic_diseases	.|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	.	0.0018	0.00299521	0.0033	0.0004	0.0012	0	0.0002	0.0030	0.0022	0.0107	0.0031177	482	154602	rs151271595	0.0028	0.0028	0.0025	0.0030	0.0102	0.0027	0.0027	0.0096	0.0094	0.0006	0.0014	0.0029	2.519e-05	0.0004	0.0095	0.0024	0.0033	0.0102	0.0018	0.0018	0.0017	0.0019	0.0097	0.0016	0.0016	0.0075	0.0067	0.0006	0	0.0023	0.0037	0.0002	0	0.0034	0.0022	0.0038	0.0097	0.052	0.52492	T	0.429	0.17217	T	0.023	0.25584	B	0.029	0.28327	B	0.073886	0.21317	N	0.395716	.	.	.	1.24	0.30952	L	1.06	0.82715	T	-1.84	0.59545	N	0.124	0.18512	-1.0564	0.12672	T	0.133	0.44661	T	9	0.0032327473	0.00055	T	.	.	.	0.033	0.08068	.	.	0.366092821824	0.36220	0.3893332817011348	0.38848	0.139746512027	0.15750	0.298681229353	0.10204	T	0.010347	0.16227	T	-0.41251	0.01913	T	-0.357357	0.38358	T	0.00171214513294426	0.00017	T	0.842416	0.51891	T	.	.	.	.	.	.	.	.	-4.492	0.30784	T	.	.	0.061	0.01143	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.025952	0.14055	10.63	0.74773530716296321	0.10821	0.50708	0.28725	D	AEFDGBHCI	0.156510	0.28188	N	-0.715540201429122	0.15585	0.7867031	-0.601513759295084	0.19453	1.043817	0.999999734906887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.95	1.56	0.22423	0.441000	0.21325	1.420000	0.26356	0.676000	0.76740	0.773000	0.29391	0.931000	0.28545	0.995000	0.73285	0.0:0.3053:0.1732:0.5215	7.512	0.26746	314	0.87270	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.009063	0.000000	0.008152	0.011696	0.000000	0.000000	0.012195	0.015152	0.07143	850.44	72	chr6	56640283	.	G	C	850.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.548;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.665;SOR=0.602	GT:AD:DP:GQ:PL	0/1:37,35:72:99:861,0,952	6	0	1	0
chr6	131851228	131851228	A	C	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon4:c.A517C:p.K173Q	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	2	993	455	72	0	599	0.231721	.	.	YES	28628	Obesity|Hypopigmentation-punctate_palmoplantar_keratoderma_syndrome|Insulin_resistance,_susceptibility_to|Type_2_diabetes_mellitus|not_provided|Hypophosphatemic_rickets|Diabetes_mellitus_type_2,_susceptibility_to|Hypophosphatemic_rickets,_autosomal_recessive,_2|Arterial_calcification,_generalized,_of_infancy,_1|Inherited_obesity|ENPP1-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529|MONDO:MONDO:0014227,MedGen:C3809781,OMIM:615522,Orphanet:324561|MedGen:C1852091|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375|MedGen:C3837967|MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	.	0.3502	0.342252	0.2063	0.7833	0.1748	0.0993	0.1346	0.1522	0.1751	0.1698	0.0048025	125	26028	rs1044498	0.1615	0.1616	0.1636	0.1594	0.7978	0.1610	0.1608	0.7898	0.7865	0.7978	0.1927	0.2216	0.0933	0.1280	0.2302	0.1406	0.1991	0.1710	0.3286	0.3290	0.3348	0.3222	0.7756	0.3262	0.3252	0.7685	0.7655	0.7756	0.3158	0.2446	0.2323	0.0942	0.1217	0.2347	0.1422	0.2955	0.1774	0.315	0.13789	T	0.379	0.16037	T	0.072	0.23997	B	0.068	0.27651	B	0.587550	0.11081	N	0.811774	1	0.08975	P	1.81	0.47622	L	0.95	0.43279	T	-1.57	0.37955	N	0.031	0.00770	-1.0817	0.07022	T	0.051	0.21689	T	9	9.3244637e-07	0.00003	T	.	.	.	0.055	0.15663	.	.	.	.	0.5922575994283148	0.59155	0.222986614552	0.24826	0.243391931057	0.03104	T	0.403814	0.76046	T	-0.729824	0.00024	T	-0.677298	0.07149	T	0.0158636155010768	0.00372	T	0.369163	0.08660	T	0.08555309	0.19849	0.05395216	0.09186	0.0991331	0.23392	0.07375446	0.16063	-3.387	0.14882	T	0.2569421100413521	0.34729	0.068	0.02927	B	.;.	.;.	1.664263	0.21222	15.10	0.93115564684636221	0.22749	0.05113	0.10917	N	AEFBIJ	0.105389	0.21059	N	-0.736100686356782	0.15014	0.7529111	-0.6970689374069	0.17033	0.9038945	0.375294786666874	0.19909	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.55	3.39	0.37919	1.445000	0.34690	2.351000	0.32314	-0.234000	0.07639	0.003000	0.16062	0.006000	0.19429	0.928000	0.46473	0.8272:0.1728:0.0:0.0	14.335	0.66145	833	0.38804	Somatomedin B domain|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain	ENPP1	Pancreas	.	.	rs1044498	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.261833	0.328283	0.322011	0.283626	0.300000	0.181034	0.176829	0.151515	0.2857	4355.83	56	chr6	131851228	.	A	C	4355.83	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.735;DP=367;ExcessHet=0.0921;FS=0.997;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=2.71;SOR=0.613	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1748,168,0	4	1	2	0
chr6	151615542	151615542	G	A	exonic	CCDC170	.	nonsynonymous SNV	CCDC170:NM_025059:exon10:c.G1810A:p.V604I	.	426	448	452	196	0	844	0.485057	.	.	.	165622	not_specified|Estrogen_resistance_syndrome|CCDC170-related_condition	MedGen:CN169374|MONDO:MONDO:0014148,MedGen:C3809250,OMIM:615363,Orphanet:785|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	.	0.3802	0.349441	0.3172	0.5003	0.1910	0.3218	0.1861	0.3212	0.3056	0.3314	0.307053	47471	154602	rs6929137	0.3255	0.3255	0.3250	0.3260	0.4982	0.3247	0.3244	0.4918	0.4892	0.4982	0.2070	0.3629	0.2803	0.1923	0.3932	0.3303	0.3428	0.3334	0.3565	0.3568	0.3642	0.3484	0.4987	0.3540	0.3529	0.4931	0.4907	0.4987	0.2637	0.2723	0.3589	0.3187	0.1773	0.4252	0.3218	0.3667	0.3291	0.356	0.12070	T	0.224	0.25591	T	0.026	0.19406	B	0.015	0.17295	B	0.007735	0.31228	N	0.296403	0.0986944	0.36178	P	1.43	0.35840	L	3.03	0.08898	T	-0.01	0.07155	N	0.018	0.00252	-1.0055	0.28307	T	0.136	0.45241	T	9	0.00022158027	0.00010	T	.	.	.	0.044	0.11924	.	.	.	.	0.072239817166933	0.07160	0.0961944766766	0.10857	0.265175282955	0.05523	T	0.004809	0.04227	T	-0.803418	0.00007	T	-0.78301	0.02364	T	0.00568248394408548	0.00062	T	0.713629	0.32527	T	0.02158561	0.00769	0.03398084	0.02386	0.02158561	0.00769	0.039030753	0.03904	-4.215	0.26968	T	0.6843976527898016	0.76122	0.083	0.09191	B	.	.	1.233171	0.16282	12.44	0.85539978010704987	0.15956	0.53578	0.29406	D	AEFBCI	0.144195	0.26709	N	-0.602800261098824	0.18859	0.9825487	-0.494072335675999	0.22316	1.211517	0.0315713748674104	0.14009	0.516011	0.20929	0	0.573888	0.26702	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	6.16	3.37	0.37692	0.969000	0.28967	5.021000	0.46746	-0.113000	0.14837	0.637000	0.28059	1.000000	0.68203	0.773000	0.36634	0.126:0.1149:0.7591:0.0	9.868	0.40328	938	0.14419	.	CCDC170	Brain_Substantia_nigra	.	.	rs6929137	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.379536	0.357143	0.388587	0.415205	0.500000	0.396552	0.362805	0.337121	0.4286	5214.38	85	chr6	151615542	.	G	A	5214.38	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.01;DP=397;ExcessHet=0.0509;FS=2.753;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=18.04;ReadPosRankSum=1;SOR=0.662	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2418,255,0	3	2	2	0
chr6	152444592	152444592	A	-	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	10	181	22	1	12	36	0.0621762	.	.	.	299490	Emery-Dreifuss_muscular_dystrophy|not_provided|Cerebellar_ataxia|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|MedGen:C3661900|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|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1541	.	0.2126	0.1732	0.2234	0.1883	0.1712	0.2367	0.2051	0.1702	0.0038036	99	26028	rs111322292	0.0628	0.0977	0.0627	0.0629	0.0670	0.0624	0.0622	0.0665	0.0663	0.0432	0.0570	0.0605	0.0220	0.0519	0.0324	0.0670	0.0577	0.0443	0.0325	0.0325	0.0346	0.0304	0.0449	0.0318	0.0315	0.0436	0.0430	0.0220	0.0067	0.0268	0.0310	0.0026	0.0209	0.0071	0.0449	0.0350	0.0261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	47.87	20	chr6	152444591	.	GA	G	47.87	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0;DP=158;ExcessHet=0.4139;FS=2.087;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.77;ReadPosRankSum=-0.478;SOR=1.7	GT:AD:DP:GQ:PL	0/1:17,3:20:25:25,0,417	4	0	2	1
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q,TBP:NM_003194:exon3:c.G228A:p.Q76Q	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	136006	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0538	0.0989	0.0432	0.0847	0.0282	0.0395	0.0472	0.0948	0.0001537	4	26028	rs112083427	0.2067	0.2951	0.1908	0.2228	0.4566	0.2057	0.2053	0.4473	0.4435	0.2151	0.4566	0.3745	0.4431	0.4300	0.2950	0.1554	0.2683	0.3748	0.2313	0.2572	0.2287	0.2342	0.3402	0.2291	0.2282	0.3316	0.3280	0.1263	0.1041	0.3402	0.2648	0.2368	0.3166	0.3025	0.2555	0.2464	0.2883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.222904	0.295699	0.183924	0.233918	0.250000	0.155172	0.208861	0.189394	0.4286	5108.06	49	chr6	170561964	.	G	A	5108.06	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.991;DP=760;ExcessHet=0.4813;FS=1.376;MLEAC=6;MLEAF=0.429;MQ=59.96;MQRankSum=0;QD=12.83;ReadPosRankSum=2.57;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,49:49:99:1|1:170561949_GCAA_G:2038,149,0:170561949	2	1	4	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	5	243	697	577	0	1851	0.792041	.	.	.	195811	Primary_ciliary_dyskinesia_7|DNAH11-related_disorder|not_provided	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10960.4	49	chr7	21867834	.	G	GT	10960.4	.	AC=10;AF=0.714;AN=14;BaseQRankSum=-1.147;DP=401;ExcessHet=2.5225;FS=2.299;MLEAC=10;MLEAF=0.714;MQ=60;MQRankSum=0;QD=27.96;ReadPosRankSum=-0.669;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,25:49:99:0|1:21867834_G_GT:957,0,933:21867834	0	3	4	0
chr7	30633897	30633897	A	-	UTR3	GARS1	NM_001316772:c.*37delA;NM_002047:c.*37delA	.	.	.	.	.	.	.	.	.	.	.	.	.	311094	Peripheral_axonal_neuropathy|not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2	Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4340	0.3441	0.4374	0.3782	0.4914	0.4724	0.4415	0.3535	0.0001153	3	26028	rs70983380	0.4481	0.4561	0.4506	0.4455	0.4627	0.4470	0.4466	0.4612	0.4607	0.3255	0.4260	0.4633	0.3725	0.4512	0.4627	0.4624	0.4401	0.3583	0.5853	0.5832	0.5905	0.5799	0.6886	0.5820	0.5807	0.6833	0.6812	0.4015	0.7719	0.5987	0.7201	0.4922	0.6382	0.6586	0.6886	0.5897	0.4457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1551.99	11	chr7	30633896	.	TA	T	1551.99	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.15;DP=138;ExcessHet=3.1439;FS=5.336;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-0.842;SOR=1.397	GT:AD:DP:GQ:PL	0/1:7,2:11:20:20,0,162	0	0	6	1
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	4651.75	18	chr7	92499847	.	CA	C	4651.75	.	AC=11;AF=0.786;AN=14;BaseQRankSum=-0.911;DP=239;ExcessHet=0;FS=0;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=27.36;ReadPosRankSum=1.54;SOR=0.951	GT:AD:DP:GQ:PL	1/0:1,13:18:81:374,81,96	1	5	1	0
chr7	114663436	114663436	-	T	intronic	FOXP2	.	.	.	Speech-language disorder-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177727	Inborn_genetic_diseases|Childhood_apraxia_of_speech|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3236	0.209465	0.3636	0.1063	0.2943	0.1724	0.4590	0.4369	0.3610	0.3263	0.0001153	3	26028	rs1478553257	0.3837	0.3970	0.3848	0.3826	0.4175	0.3828	0.3824	0.4164	0.4159	0.0938	0.2799	0.2759	0.1190	0.4085	0.1994	0.4175	0.3570	0.3056	0.3203	0.3199	0.3227	0.3178	0.4529	0.3179	0.3169	0.4486	0.4469	0.1010	0.3819	0.3039	0.2802	0.1440	0.4542	0.1910	0.4529	0.2949	0.3137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1648.31	26	chr7	114663436	.	A	AT	1648.31	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.245;DP=203;ExcessHet=0;FS=3.212;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=23.89;ReadPosRankSum=0.25;SOR=0.503	GT:AD:DP:GQ:PL	0/1:8,18:26:99:428,0,147	5	1	1	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	2	82	476	962	0	2400	0.936037	.	.	.	135324	Maturity_onset_diabetes_mellitus_in_young|not_specified|Type_2_diabetes_mellitus|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.814271	0.836735	0.841033	0.835294	0.750000	0.793103	0.754601	0.746154	0.7857	13950.1	64	chr7	127611134	.	T	G	13950.1	.	AC=11;AF=0.786;AN=14;BaseQRankSum=1.17;DP=578;ExcessHet=1.1394;FS=0.666;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=24.65;ReadPosRankSum=0.824;SOR=0.586	GT:AD:DP:GQ:PL	0/1:29,35:64:99:1001,0,732	0	4	3	0
chr7	127611678	127611678	-	A	splicing	PAX4	NM_001366111:exon9:c.772-2->T;NM_001366110:exon11:c.772-2->T	.	.	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	0	212	14	0	0	14	0.0319635	.	.	.	301762	not_provided|Maturity-onset_diabetes_of_the_young_type_9|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|MONDO:MONDO:0012818,MedGen:C2677132,OMIM:612225,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0409	.	0.0308	0.0965	0.0139	0.0048	0.0169	0.0210	0.0412	0.0615	0.0002846	44	154602	rs35434068	0.0275	0.0831	0.0267	0.0282	0.1057	0.0272	0.0271	0.1023	0.1009	0.1057	0.0157	0.0122	0.0044	0.0253	0.0514	0.0244	0.0318	0.0487	0.0309	0.0305	0.0315	0.0302	0.0752	0.0301	0.0298	0.0729	0.0720	0.0752	0	0.0148	0.0066	0.0008	0.0144	0.0571	0.0133	0.0302	0.0366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	888.04	26	chr7	127611678	.	T	TA	888.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.4;DP=285;ExcessHet=1.1394;FS=3.887;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=5.38;ReadPosRankSum=-0.426;SOR=0.445	GT:AD:DP:GQ:PL	0/1:20,6:26:83:83,0,478	5	0	2	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	0	788	734	0	0	734	0.317749	.	.	YES	46925	not_provided|Recurrent_pancreatitis|Hereditary_pancreatitis	MedGen:C3661900|Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.524	.	.	.	0.0160	0.0479	0.0047	0.0021	0.0128	0.0164	0.0210	0.0113	0.0135833	2100	154602	rs202003805	0.2021	0.3260	0.1994	0.2049	0.3871	0.2013	0.2010	0.3798	0.3768	0.3871	0.3293	0.2961	0.1035	0.3682	0.1866	0.1904	0.2197	0.1188	0.3862	0.4088	0.3910	0.3812	0.4582	0.3832	0.3820	0.4521	0.4495	0.4582	0.3653	0.3885	0.3815	0.1497	0.3882	0.3266	0.3733	0.3802	0.2128	0.566	0.06502	T	0.351	0.19721	T	0.0	0.02946	B	0.002	0.06944	B	0.018559	0.27457	N	0.446479	0.985655	0.24690	N	0.625	0.15840	N	-3.17	0.93054	D	-0.01	0.07155	N	0.072	0.08366	-0.5774	0.65720	T	0.542	0.83122	D	10	0.0054525733	0.00120	T	.	.	.	0.524	0.79825	.	.	.	.	0.5690087331218414	0.56828	0.162344706958	0.18315	0.232086211443	0.02126	T	0.208591	0.56856	T	0.119743	0.66346	D	-0.0657736	0.65926	T	0.0260900631546974	0.01419	T	.	.	.	0.016501123	0.00202	0.035258744	0.02744	0.015689086	0.00152	0.033967946	0.02380	-4.735	0.33824	T	.	.	0.128	0.27373	B	.;.;.	.;.;.	0.257558	0.06365	2.827	0.30547631428140182	0.01676	0.01640	0.05278	N	AEFDBI	0.139100	0.26059	N	-1.28146295350348	0.03898	0.1749983	-1.30565312385982	0.04356	0.2053128	0.136983366606344	0.17200	0.549168	0.22868	0	0.627178	0.54094	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	3.49	0.989	0.18920	0.485000	0.22033	.	.	-1.601000	0.00893	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2125:0.0:0.7875	7.043	0.24210	776	0.48302	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	0.009060	0.025974	0.000000	0.004274	0.062500	0.000000	0.031915	0.008000	0.2857	3483.04	81	chr7	142750561	.	C	T	3483.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.54;DP=457;ExcessHet=2.5225;FS=6.976;MLEAC=4;MLEAF=0.286;MQ=57.07;MQRankSum=-6.867;QD=9.31;ReadPosRankSum=-0.274;SOR=0.428	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,34:81:99:.:.:1185,0,1209:.	3	0	4	0
chr7	142750675	142750675	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.A161G:p.N54S	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1165	357	0	0	357	0.132862	.	.	.	26920	not_specified|Hereditary_pancreatitis	MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	.	.	0.0354	0.0748	0.0127	0.0043	0.0416	0.0323	0.0528	0.0537	0.0003842	10	26028	rs144422014	0.0485	0.1673	0.0431	0.0541	0.1643	0.0482	0.0480	0.1599	0.1580	0.1117	0.1643	0.1341	0.0273	0.2064	0.0482	0.0386	0.0676	0.0350	0.2790	0.3612	0.2847	0.2732	0.3794	0.2760	0.2748	0.3726	0.3698	0.3794	0.2481	0.2697	0.2695	0.0620	0.2849	0.1951	0.2592	0.2679	0.0988	0.448	0.09075	T	0.623	0.13912	T	0.0	0.02946	B	0.001	0.04355	B	0.001478	0.38917	N	0.304664	6.371e-07	0.08975	A	-0.23	0.03940	N	-2.87	0.91478	D	-1.05	0.28290	N	0.04	0.03726	-0.6892	0.60945	T	0.247	0.61600	T	9	0.0784502	0.12504	T	.	.	.	0.355	0.67600	.	.	.	.	0.5012227439210316	0.50044	0.128612980855	0.14499	0.257050007582	0.04546	T	0.49228	0.81630	T	-0.0785813	0.39944	T	-0.350653	0.39129	T	0.0736112371087074	0.09149	T	.	.	.	0.2644275	0.49510	0.109853335	0.26482	0.094889425	0.22319	0.06812106	0.14182	-6.432	0.49759	T	.	.	0.070	0.03698	B	.;.;.;.	.;.;.;.	-2.080381	0.00084	0.001	0.26841523162452846	0.01304	0.01504	0.04979	N	AEFDBI	0.151876	0.27644	N	-1.8369064160701	0.00461	0.0198398	-1.85065327251252	0.00610	0.02711572	0.9475443675706	0.27758	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	-6.32	0.01820	-1.848000	0.01766	.	.	-3.345000	0.00094	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4768:0.1255:0.3977:0.0	6.959	0.23768	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.012835	0.027778	0.002740	0.013043	0.222222	0.000000	0.014184	0.021186	0.3571	1691.11	85	chr7	142750675	.	A	G	1691.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.408;DP=521;ExcessHet=4.7409;FS=4.98;MLEAC=5;MLEAF=0.357;MQ=58.52;MQRankSum=-8.572;QD=3.79;ReadPosRankSum=-1.697;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,22:85:99:0|1:142750672_T_A:734,0,2559:142750672	2	0	5	0
chr7	142750680	142750680	C	T	exonic	PRSS1	.	stopgain	PRSS1:NM_002769:exon2:c.C166T:p.Q56X	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1242	280	0	0	280	0.101302	.	.	.	933720	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0318	0.0685	0.0106	0.0041	0.0339	0.0291	0.0474	0.0480	0.0003074	8	26028	rs147366981	0.0267	0.1326	0.0229	0.0307	0.0653	0.0265	0.0263	0.0624	0.0612	0.0570	0.0653	0.0663	0.0176	0.1422	0.0264	0.0220	0.0394	0.0170	0.2451	0.3472	0.2492	0.2408	0.3469	0.2422	0.2410	0.3402	0.3375	0.3469	0.2122	0.2373	0.2308	0.0477	0.2609	0.1513	0.2221	0.2305	0.0781	.	.	.	.	.	.	.	.	.	.	.	.	0.016899	0.27861	N	0.410325	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.711	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416393	0.90831	D	0.360343	0.90716	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	4.129577	0.61790	24.4	0.99516745074967428	0.68979	0.11811	0.16877	N	AEFDBI	0.295314	0.40546	N	0.145216833814894	0.48585	3.069039	-0.169272407184608	0.32673	1.861256	0.255023528038656	0.18723	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	2.59	0.30091	0.110000	0.15273	.	.	-2.564000	0.00244	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.8252:0.1747:0.0	12.188	0.53561	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1467.11	77	chr7	142750680	.	C	T	1467.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0;DP=511;ExcessHet=4.7409;FS=2.717;MLEAC=5;MLEAF=0.357;MQ=58.55;MQRankSum=-8.572;QD=3.37;ReadPosRankSum=-1.834;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,19:77:99:0|1:142750672_T_A:623,0,2378:142750672	2	0	5	0
chr7	142751776	142751776	G	A	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon3:c.G203A:p.R68H	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	17	1188	314	3	0	320	0.118694	.	.	.	833228	not_specified|Hereditary_pancreatitis	MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.454	0.079574919944	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs757111793	0.0028	0.0244	0.0028	0.0028	0.0062	0.0027	0.0026	0.0042	0.0035	0.0026	0.0007	0.0008	0.0002	0.0363	0.0062	0.0016	0.0015	0.0004	0.0016	0.0250	0.0016	0.0017	0.0022	0.0014	0.0013	0.0017	0.0016	0.0022	0.0015	0.0014	0.0004	0.0009	0.0014	0	0.0015	0.0022	0.0011	0.033	0.44358	D	0.037	0.51737	D	0.018	0.17786	B	0.013	0.16460	B	0.000003	0.62929	N	0.143154	0.99687	0.43474	D	0.405	0.12330	N	-2.44	0.88767	D	-2.91	0.63323	D	0.403	0.45615	-0.4476	0.70479	T	0.479	0.80063	T	10	0.3460185	0.51565	T	0.079575	0.73264	D	0.454	0.75347	0.388	0.40951	0.89564852827	0.89461	0.6536213427678507	0.65298	0.204501385774	0.22873	0.292759656906	0.09325	T	0.743745	0.92924	D	0.0702592	0.60881	D	-0.136854	0.60391	T	0.1218057051301	0.14605	T	.	.	.	0.52174497	0.68360	0.27781934	0.53737	0.52174497	0.68361	0.27781934	0.53736	-7.815	0.59802	D	.	.	0.168	0.42317	B	.;.;.;.	.;.;.;.	2.159145	0.27505	17.49	0.99359078968811354	0.60946	0.88050	0.47811	D	AEFBI	0.779680	0.71180	D	-0.47592542095364	0.22871	1.224289	-0.40980339605744	0.24709	1.354636	0.0172855764612005	0.12933	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	1.39	0.21325	0.826000	0.27061	.	.	0.504000	0.22967	0.213000	0.24458	0.000000	0.08366	0.074000	0.16894	0.2138:0.0:0.7862:0.0	8.248	0.30860	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	55.36	126	chr7	142751776	.	G	A	55.36	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.659;DP=709;ExcessHet=0;FS=3.533;MLEAC=1;MLEAF=0.167;MQ=57.98;MQRankSum=-9.704;QD=0.44;ReadPosRankSum=1.17;SOR=0.372	GT:AD:DP:GQ:PL	0/1:108,18:126:62:62,0,2730	2	0	1	4
chr7	142752476	142752476	G	C	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon4:c.G500C:p.S167T	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	495	1027	0	0	1027	0.509172	.	.	.	1044764	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0561978714716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232891794	0.2545	0.3268	0.2490	0.2598	0.3691	0.2536	0.2533	0.3636	0.3614	0.2301	0.3691	0.3339	0.1146	0.3574	0.2639	0.2514	0.2503	0.2264	0.4061	0.4174	0.4095	0.4025	0.4695	0.4032	0.4020	0.4636	0.4612	0.4695	0.3848	0.4099	0.4028	0.1747	0.4131	0.3359	0.3953	0.3970	0.2476	0.157	0.23997	T	0.098	0.39040	T	0.0	0.07471	B	0.01	0.14941	B	0.083030	0.20775	N	0.574518	1	0.08975	N	1.445	0.36358	L	-3.32	0.93882	D	-2.14	0.48523	N	0.225	0.25622	-0.1577	0.78727	T	0.698	0.89598	D	10	0.23140222	0.40113	T	0.056198	0.66515	D	0.289	0.60808	0.642	0.77903	0.527610103971	0.52408	0.7123115361635766	0.71173	0.155586269279	0.17559	0.440457701683	0.30639	T	0.578285	0.86150	D	-0.00289087	0.51255	T	-0.241929	0.50610	T	0.0861879674086316	0.10760	T	.	.	.	0.1717769	0.37831	0.16736849	0.38616	0.1717769	0.37831	0.16736849	0.38615	-3.967	0.23308	T	.	.	0.124	0.29172	B	.;.;.;.	.;.;.;.	-0.119171	0.03530	0.672	0.49745973133581234	0.04263	0.00742	0.03097	N	AEFBI	0.279347	0.39342	N	-1.33556641628984	0.03277	0.1461073	-1.43646429030785	0.02895	0.1340265	4.17954976400154E-4	0.06899	0.446893	0.09132	0	0.457222	0.06608	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	-1.85	0.07363	0.606000	0.23891	.	.	-1.515000	0.01011	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6816:0.3184:0.0	15.926	0.79405	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4962.03	143	chr7	142752476	.	G	C	4962.03	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.049;DP=808;ExcessHet=4.7409;FS=2.062;MLEAC=5;MLEAF=0.357;MQ=58.69;MQRankSum=-6.896;QD=6.94;ReadPosRankSum=1.19;SOR=0.541	GT:AD:DP:GQ:PL	0/1:124,19:143:99:385,0,3344	2	0	5	0
chr7	147132381	147132381	A	G	exonic	CNTNAP2	.	unknown	UNKNOWN	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1	0	1515	7	0	0	7	0.00230491	.	.	.	101453	CNTNAP2-related_disorder|not_provided|not_specified|Cortical_dysplasia-focal_epilepsy_syndrome|Inborn_genetic_diseases	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.118	0.00459544755955	0.0025	0.00139776	0.0009	0.0051	0.0008	0	0	0.0007	0	0.0001	0.0008538	132	154602	rs143877693	0.0006	0.0006	0.0007	0.0006	0.0070	0.0006	0.0006	0.0062	0.0059	0.0070	0.0007	0.0061	0.0006	3.744e-05	0	0.0004	0.0013	8.115e-05	0.0023	0.0023	0.0022	0.0024	0.0067	0.0021	0.0020	0.0061	0.0058	0.0067	0	0.0009	0.0063	0.0004	0	0	0.0003	0.0038	0.0004	0.548	0.06627	T	0.829	0.03728	T	0.003	0.11197	B	0.01	0.14941	B	0.032297	0.25050	N	0.348822	0.999996	0.08975	N	-0.95	0.01262	N	-1.29	0.79475	T	0.68	0.02228	N	0.24	0.27077	-0.9934	0.31722	T	0.144	0.46641	T	10	0.01616469	0.00340	T	0.004595	0.11346	T	0.118	0.32913	.	.	0.531972677126	0.52846	0.20501470567457233	0.20418	0.0774002172583	0.08706	0.233605995774	0.02245	T	0.124938	0.45031	T	-0.563756	0.00241	T	-0.579126	0.14622	T	0.000987796670502398	0.00009	T	0.718228	0.33111	T	0.03791757	0.04951	0.038157433	0.03622	0.040359326	0.05745	0.038902674	0.03862	-2.503	0.05801	T	.	.	0.056	0.00444	B	.;.	.;.	0.938628	0.13140	9.643	0.87274821820128745	0.17111	0.65813	0.32864	D	AEFI	0.099806	0.20082	N	-0.959996700708199	0.09469	0.4483113	-0.808265260525275	0.14296	0.746213	1.24215161231998E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	0.689	0.17197	2.033000	0.40757	2.744000	0.34485	-0.113000	0.14837	0.954000	0.33273	0.952000	0.29052	0.981000	0.58702	0.6014:0.0:0.3986:0.0	9.007	0.35279	944	0.12746	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1235.44	87	chr7	147132381	.	A	G	1235.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.949;DP=284;ExcessHet=0;FS=1.763;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.585;SOR=0.515	GT:AD:DP:GQ:PL	0/1:35,52:87:99:1246,0,858	6	0	1	0
chr7	150947340	150947340	C	A	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_172057:exon9:c.G2120T:p.R707L,KCNH2:NM_000238:exon13:c.G3140T:p.R1047L	Long QT syndrome 2, Autosomal dominant;Short QT syndrome 1	4	1496	22	0	0	22	0.00729927	.	.	.	45092	KCNH2-related_disorder|Long_QT_syndrome|not_provided|Torsades_de_pointes|Long_QT_syndrome_2|Cardiac_arrhythmia|Sudden_unexplained_death|not_specified|Cardiovascular_phenotype	.|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900|EFO:EFO_0005307,Human_Phenotype_Ontology:HP:0001664,MONDO:MONDO:0005478,MedGen:C0040479|MONDO:MONDO:0013367,MedGen:C3150943,OMIM:613688,Orphanet:101016,Orphanet:768|EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MedGen:C0520806|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.600	.	0.0133	0.00898562	0.0088	0.0031	0	0	0.0714	0.0200	0.0083	0.0039	0.0071927	1112	154602	rs36210421	0.0214	0.0212	0.0220	0.0207	0.0234	0.0212	0.0211	0.0232	0.0231	0.0030	0.0043	0.0038	0	0.0704	0.0068	0.0234	0.0148	0.0036	0.0183	0.0183	0.0166	0.0201	0.0259	0.0177	0.0175	0.0249	0.0245	0.0032	0.0285	0.0048	0.0058	0	0.0695	0	0.0259	0.0081	0.0037	0.054	0.38633	T	0.342	0.26631	T	0.065	0.23521	B	0.045	0.24526	B	0.000324	0.45700	D	0.140191	0.567257	0.31208	N	0.895	0.22405	L	-2.23	0.87116	D	-2.79	0.59059	D	0.527	0.61172	-0.6293	0.63601	T	0.174	0.51690	T	10	0.0038214326	0.00072	T	.	.	.	0.600	0.84183	.	.	.	.	0.5047442039988165	0.50396	0.446185085755	0.44492	0.632791996002	0.57541	T	0.717336	0.91984	D	-0.184872	0.23014	T	-0.0125698	0.69515	D	0.0304958908996061	0.02066	T	0.962304	0.87416	D	0.1957963	0.41383	0.17573684	0.40059	0.18617725	0.40014	0.223704	0.47257	-12.039	0.85040	D	0.2289614489620016	0.30970	0.192	0.41187	B	.;.	.;.	3.778579	0.54311	23.5	0.99696426998275589	0.80316	0.40028	0.26345	N	AEFDBCI	0.624767	0.60821	D	-0.444583060412532	0.23923	1.288185	-0.347895009540586	0.26574	1.468735	0.999997607967466	0.74766	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.97	4.09	0.47038	-0.147000	0.10218	3.273000	0.37174	0.519000	0.23678	0.000000	0.06391	1.000000	0.68203	0.885000	0.42453	0.0:0.8092:0.0:0.1908	7.663	0.27580	744	0.52588	.;.	ATG9B	Esophagus_Mucosa	.	.	rs36210421	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	0.011654	0.005952	0.018018	0.003165	0.000000	0.009434	0.017241	0.011719	0.07143	434.46	39	chr7	150947340	.	C	A	434.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.921;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.028;SOR=0.602	GT:AD:DP:GQ:PL	0/1:19,20:39:99:445,0,447	6	0	1	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	not_specified|Occult_macular_dystrophy|not_provided	MedGen:CN169374|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	31395.9	84	chr8	10610127	.	T	TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	31395.9	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.19;DP=1195;ExcessHet=0.3696;FS=0;MLEAC=5;MLEAF=0.357;MQ=59.77;MQRankSum=2.35;QD=30.62;ReadPosRankSum=-0.673;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,46:84:99:.:.:10627,4991,4599:.	3	1	3	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	Retinitis_pigmentosa_88|Occult_macular_dystrophy|not_specified|not_provided	MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.274421	0.257576	0.265668	0.260234	0.300000	0.301724	0.323171	0.242424	0.1429	31395.9	84	chr8	10610127	.	T	C	31395.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.19;DP=1195;ExcessHet=0.3696;FS=0;MLEAC=2;MLEAF=0.143;MQ=59.77;MQRankSum=2.35;QD=30.62;ReadPosRankSum=-0.673;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,38:84:99:.:.:10627,3977,4196:.	5	0	2	0
chr8	38428395	38428395	-	TCA	exonic	FGFR1	.	nonframeshift insertion	FGFR1:NM_001174066:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001354368:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001354370:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_023105:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_023106:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001174063:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001174065:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001354367:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001354369:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_015850:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_023110:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001174064:exon5:c.374_375insTGA:p.D125_S126insD,FGFR1:NM_001174067:exon5:c.497_498insTGA:p.D166_S167insD	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant	0	224	1	1	0	3	0.00665188	.	.	.	438386	Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome|Mendelian_syndromes_with_cleft_lip/palate|not_provided	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710|MedGen:C5680616,Orphanet:139039|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0002	0	0	0.0003	0	0.0005	0.0001153	3	26028	rs776622310	0.0001	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0003	0.0002	8.964e-05	0.0002	0	2.52e-05	7.489e-05	0.0002	0.0001	0.0001	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	9.623e-05	0	0.0001	0	0	0	0	0.0003	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	596.23	23	chr8	38428395	.	G	GTCA	596.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.946;DP=184;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=25.92;ReadPosRankSum=0.841;SOR=0.818	GT:AD:DP:GQ:PL	0/1:8,15:23:99:606,0,287	5	0	1	1
chr9	2622146	2622146	-	CGG	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	272060	not_specified|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1|Congenital_cerebellar_hypoplasia|not_provided	MedGen:CN169374|MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1638	.	0.3376	0.1818	0.25	0.0139	0.125	0.3308	0.2105	0.3583	0.0206983	3200	154602	rs555425887	0.2927	0.2905	0.2899	0.2955	0.3418	0.2919	0.2915	0.3381	0.3365	0.0877	0.2478	0.3286	0.0443	0.3460	0.2522	0.3019	0.2795	0.3418	0.2545	0.2556	0.2528	0.2563	0.3664	0.2523	0.2515	0.3521	0.3463	0.0964	0.5619	0.2423	0.3682	0.0533	0.3910	0.2345	0.3296	0.2564	0.3664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	8772.59	35	chr9	2622146	.	A	ACGG	8772.59	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.396;DP=281;ExcessHet=0;FS=1.454;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=28.03;ReadPosRankSum=-0.138;SOR=0.538	GT:AD:DP:GQ:PL	1/1:2,33:35:15:1394,15,0	2	1	3	1
chr9	132264633	132264633	A	G	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon26:c.T7640C:p.I2547T,SETX:NM_015046:exon26:c.T7640C:p.I2547T,SETX:NM_001351528:exon27:c.T7727C:p.I2576T	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1502	17	3	0	23	0.00759828	.	.	.	165502	Amyotrophic_lateral_sclerosis_type_4|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|not_provided|not_specified|Amyotrophic_lateral_sclerosis|Hereditary_spastic_paraplegia	MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.112	0.0633152070572	0.0054	0.00259585	0.0034	0.0006	0.0055	0	0.0005	0.0048	0.0055	0.0011	0.0036804	569	154602	rs151117904	0.0052	0.0052	0.0052	0.0051	0.0107	0.0051	0.0050	0.0086	0.0078	0.0012	0.0069	0.0007	0	0.0003	0.0107	0.0060	0.0054	0.0012	0.0043	0.0043	0.0044	0.0042	0.0122	0.0040	0.0039	0.0107	0.0102	0.0015	0	0.0122	0.0006	0	0.0004	0.0034	0.0055	0.0095	0.0006	0.315	0.14595	T	0.475	0.12072	T	0.0	0.02946	B	0.0	0.01387	B	0.000502	0.00624	N	3.286410	1	0.08975	N	0	0.06538	N	-2.72	0.90622	D	0.42	0.03352	N	0.044	0.01658	-0.5751	0.65811	T	0.318	0.68735	T	10	0.0033735633	0.00059	T	0.063315	0.68928	D	0.112	0.31546	.	.	0.425028116352	0.42120	0.12267033688604907	0.12193	0.093049406823	0.10513	0.266960442066	0.05747	T	0.092795	0.39078	T	-0.533684	0.00365	T	-0.533686	0.18921	T	0.000574663953003263	0.00005	T	0.322168	0.06550	T	0.016643604	0.00212	0.03200239	0.01869	0.021115314	0.00697	0.032754432	0.02061	-2.87	0.08847	T	.	.	0.120	0.24833	B	.;.	.;.	-0.108979	0.03587	0.700	0.38995283768389621	0.02664	0.01355	0.04643	N	AEFGBI	0.021710	0.00998	N	-1.43950795165835	0.02300	0.1014283	-1.44411367920124	0.02824	0.1306009	0.999370126307587	0.39355	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	-3.37	0.04591	0.238000	0.17782	0.985000	0.23152	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.455:0.2372:0.3079:0.0	6.013	0.18811	958	0.09170	.;.	.	.	.	.	.	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	0.014602	0.005051	0.017663	0.035088	0.000000	0.017241	0.006098	0.000000	0.07143	927.44	95	chr9	132264633	.	A	G	927.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.747;DP=294;ExcessHet=0;FS=1.681;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-1.455;SOR=0.961	GT:AD:DP:GQ:PL	0/1:52,43:95:99:938,0,1297	6	0	1	0
chr9	133555922	133555922	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon11:c.C1641T:p.H547H,ADAMTSL2:NM_014694:exon11:c.C1641T:p.H547H	Geleophysic dysplasia 1, Autosomal recessive	4	1025	431	62	0	555	0.213052	.	.	.	317128	Geleophysic_dysplasia_1|not_specified|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0156143	2414	154602	rs7868941	0.1558	0.1558	0.1578	0.1537	0.2226	0.1552	0.1550	0.2120	0.2078	0.1409	0.1034	0.1845	0.0005	0.2171	0.2226	0.1673	0.1555	0.0618	0.1564	0.1566	0.1576	0.1552	0.1741	0.1547	0.1540	0.1715	0.1704	0.1426	0.2357	0.1371	0.1958	0.0010	0.2236	0.2041	0.1741	0.1776	0.0504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	3852.31	64	chr9	133555922	.	C	T	3852.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.515;DP=421;ExcessHet=4.7409;FS=0.376;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.702;SOR=0.732	GT:AD:DP:GQ:PL	0/1:35,29:64:99:651,0,923	2	0	5	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V,ADAMTSL2:NM_014694:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	1	295	703	523	0	1749	0.747755	.	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.6429	9203.22	70	chr9	133569476	.	A	G	9203.22	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-0.495;DP=489;ExcessHet=0.4813;FS=1.214;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=19.54;ReadPosRankSum=0.585;SOR=0.57	GT:AD:DP:GQ:PL	0/1:43,27:70:99:635,0,1111	1	3	3	0
chr9	134809297	134809297	C	T	intronic	COL5A1	.	.	.	Ehlers-Danlos syndrome, classic type, Autosomal dominant	6	1500	14	2	0	18	0.00596421	0	0.002	.	140582	not_provided|Ehlers-Danlos_syndrome,_classic_type,_1|not_specified|Ehlers-Danlos_syndrome|Ehlers-Danlos_syndrome,_classic_type	MedGen:C3661900|MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000|MedGen:CN169374|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0007522,MedGen:C4225429,Orphanet:287	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0007	0	0.0011	0	0	0.0002	0.0020	0.0029	0.0003428	53	154602	rs550497696	0.0004	0.0004	0.0002	0.0005	0.0036	0.0003	0.0003	0.0033	0.0031	0	0.0011	0.0003	2.535e-05	0	0.0027	0.0001	0.0005	0.0036	0.0004	0.0004	0.0003	0.0004	0.0031	0.0003	0.0003	0.0019	0.0015	2.405e-05	0	0.0014	0.0003	0	0	0	0.0002	0.0009	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	248.45	32	chr9	134809297	.	C	T	248.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.166;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=-0.195;SOR=0.804	GT:AD:DP:GQ:PL	0/1:20,12:32:99:259,0,496	6	0	1	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	1265	97	26	134	0	294	0.602459	.	.	.	322826	Hypoparathyroidism,_deafness,_renal_disease_syndrome|not_provided	MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	676.88	3	chr10	8074278	.	G	GA	676.88	.	AC=9;AF=0.9;AN=10;BaseQRankSum=1.98;DP=37;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.9;MQ=60;MQRankSum=0;QD=22.56;ReadPosRankSum=0.126;SOR=1.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,3:3:9:.:.:84,9,0:.	0	4	1	2
chr10	23193706	23193706	T	C	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon2:c.T787C:p.S263P	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	277	416	362	467	0	1296	0.609023	.	.	.	135501	not_provided|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome|not_specified|Permanent_neonatal_diabetes_mellitus|Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2	MedGen:C3661900|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288|MedGen:CN169374|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.357	.	0.5108	0.624401	0.5470	0.5697	0.7022	0.8903	0.4327	0.4864	0.5430	0.5350	0.523195	80887	154602	rs7918487	0.4938	0.4962	0.4927	0.4948	0.8378	0.4928	0.4924	0.8302	0.8271	0.5601	0.6724	0.5597	0.8378	0.4417	0.6054	0.4672	0.5268	0.5353	0.5240	0.5241	0.5217	0.5264	0.8799	0.5210	0.5197	0.8585	0.8498	0.5578	0.4215	0.5843	0.5542	0.8799	0.4411	0.6327	0.4725	0.5375	0.5558	0.035	0.43708	D	0.009	0.66756	D	0.022	0.18677	B	0.011	0.15521	B	0.000012	0.62929	N	0.068790	0.00248586	0.43951	P	1.18	0.29980	L	-3.56	0.94869	D	-2.27	0.50666	N	0.06	0.03175	-0.9246	0.44915	T	0.000	0.00011	T	9	7.2453116e-07	0.00003	T	.	.	.	0.357	0.67782	.	.	.	.	0.8029689689293238	0.80250	.	.	0.808061718941	0.83195	D	0.245918	0.61529	T	-0.418964	0.01736	T	-0.230769	0.51698	T	0.0349258213578647	0.02795	T	0.630137	0.24490	T	0.42178693	0.62210	0.62976736	0.78405	0.41815445	0.61969	0.6288712	0.78357	-5.729	0.43950	T	0.22715938275925626	0.30707	0.161	0.35643	B	.	.	3.140397	0.42469	21.5	0.98917447264891534	0.48491	0.98167	0.80181	D	AEFDBCI	0.815195	0.73723	D	-0.175553205708038	0.34153	1.946079	-0.064842511773185	0.36855	2.150201	0.999832780372402	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.34	3.02	0.33970	4.083000	0.57365	2.832000	0.35027	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.500000	0.29017	0.0:0.1441:0.0:0.8559	9.307	0.37045	833	0.38804	.	C10orf67|C10orf67|ARMC3|MSRB2|C10orf67|C10orf67|C10orf67|C10orf67	Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	C10orf67	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0.638469	0.611111	0.634511	0.652047	0.450000	0.637931	0.667683	0.609848	0.7857	3538.65	17	chr10	23193706	.	T	C	3538.65	.	AC=11;AF=0.786;AN=14;BaseQRankSum=1.13;DP=158;ExcessHet=1.1394;FS=1.841;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=23.75;ReadPosRankSum=0.227;SOR=0.526	GT:AD:DP:GQ:PL	1/1:0,17:17:51:543,51,0	0	4	3	0
chr10	54213995	54213995	G	A	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001142767:exon9:c.C928T:p.L310F,PCDH15:NM_001142768:exon9:c.C973T:p.L325F,PCDH15:NM_001142773:exon9:c.C973T:p.L325F,PCDH15:NM_001142764:exon10:c.C1039T:p.L347F,PCDH15:NM_001142765:exon10:c.C1039T:p.L347F,PCDH15:NM_001142766:exon10:c.C1039T:p.L347F,PCDH15:NM_001354411:exon10:c.C1039T:p.L347F,PCDH15:NM_001354420:exon10:c.C1039T:p.L347F,PCDH15:NM_001354429:exon10:c.C1039T:p.L347F,PCDH15:NM_001354430:exon10:c.C1039T:p.L347F,PCDH15:NM_001384140:exon10:c.C1039T:p.L347F,PCDH15:NM_033056:exon10:c.C1039T:p.L347F,PCDH15:NM_001142763:exon11:c.C1054T:p.L352F,PCDH15:NM_001354404:exon12:c.C973T:p.L325F	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	3	1495	24	0	0	24	0.00796284	.	.	.	55599	not_specified|Usher_syndrome_type_1|not_provided|Usher_syndrome_type_1F	MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.0477581669201	0.0035	0.00119808	0.0036	0.0006	0.0018	0	0.0009	0.0053	0.0033	0.0028	0.0035575	550	154602	rs111033436	0.0041	0.0041	0.0039	0.0042	0.0050	0.0040	0.0039	0.0042	0.0041	0.0007	0.0020	0.0168	0	0.0010	0.0050	0.0043	0.0045	0.0030	0.0032	0.0032	0.0033	0.0030	0.0046	0.0029	0.0028	0.0042	0.0040	0.0008	0.0110	0.0029	0.0161	0	0.0004	0.0034	0.0046	0.0043	0.0027	0.002	0.72154	D	0.0	0.92824	D	0.997	0.90584	D	0.964	0.88582	D	.	.	.	.	1	0.81001	D	2.615	0.76484	M	0.43	0.56772	T	-2.87	0.62518	D	0.807	0.87481	-0.3166	0.74517	T	0.307	0.67740	T	9	0.0059919655	0.00134	T	0.047758	0.63066	D	0.254	0.56428	.	.	0.705405603352	0.70284	0.6460078611123972	0.64535	0.21467462913	0.24008	0.611727297306	0.54561	T	0.124994	0.82072	T	-0.257932	0.13143	T	-0.140943	0.60036	T	0.0103998413265441	0.00143	T	0.944805	0.79334	D	0.4974293	0.66944	0.3812635	0.63140	0.50377804	0.67317	0.36944348	0.62214	-11.315	0.81932	D	0.6398601033422839	0.71041	0.504	0.74312	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.742781	0.76508	26.5	0.99903023584850525	0.97426	0.94803	0.62383	D	AEFDI	0.849311	0.76613	D	0.798106157721513	0.85986	8.743229	0.752945161623409	0.86377	8.869651	0.499505483150631	0.20930	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.99	4.99	0.65942	7.139000	0.76905	9.765000	0.81528	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.206	0.89790	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;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	1	0	0	0	0	0	0	0.005035	0.010101	0.001359	0.005848	0.000000	0.000000	0.006098	0.007576	0.1429	710.25	43	chr10	54213995	.	G	A	710.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.12;DP=219;ExcessHet=0.3476;FS=1.968;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.423;SOR=0.667	GT:AD:DP:GQ:PL	0/1:26,17:43:99:436,0,607	5	0	2	0
chr10	80164097	80164097	C	T	exonic	ANXA11	.	nonsynonymous SNV	ANXA11:NM_001157:exon8:c.G905A:p.R302H,ANXA11:NM_145868:exon9:c.G905A:p.R302H,ANXA11:NM_001278407:exon10:c.G905A:p.R302H,ANXA11:NM_001278408:exon10:c.G905A:p.R302H,ANXA11:NM_001278409:exon10:c.G806A:p.R269H,ANXA11:NM_145869:exon10:c.G905A:p.R302H	.	395	1121	6	0	0	6	0.00266904	.	.	.	1658875	not_provided|Amyotrophic_lateral_sclerosis_type_23|ANXA11-related_disorder	MedGen:C3661900|MONDO:MONDO:0027694,MedGen:C4693381,OMIM:617839|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.668	0.0493780921389	7.7e-05	0.00159744	0.0006	0.0007	0	0	0	3e-05	0	0.0038	0.0005304	82	154602	rs140133265	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0037	0.0035	0.0006	0.0001	0	0.0001	0	0.0012	7.914e-05	0.0004	0.0040	0.0003	0.0003	0.0003	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	0.0002	0	0.0001	0	0	0	0	0.0001	0.0005	0.0041	0.002	0.72154	D	0.005	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.625	0.93960	H	2.65	0.12676	T	-4.55	0.78553	D	0.952	0.96187	-0.7329	0.58817	T	0.140	0.45828	T	10	0.0721657	0.10736	T	0.049378	0.63785	D	0.668	0.87674	.	.	0.873778278703	0.87255	0.8349654166634419	0.83455	0.409613746433	0.41775	0.588570654392	0.51293	T	0.187453	0.54106	T	-0.0621109	0.42577	T	0.138135	0.79424	D	0.148524063628641	0.16985	T	0.973403	0.90433	D	0.6264487	0.74109	0.51792556	0.72147	0.6646608	0.76149	0.50552297	0.71420	-12.069	0.85185	D	.	.	0.752	0.75123	P	.;.;.;.	.;.;.;.	6.311832	0.94994	34	0.99940386774845802	0.99767	0.88949	0.49131	D	AEFDGBHCI	0.942933	0.94813	D	0.845420695383476	0.88844	9.734498	0.76115552842074	0.86990	9.069395	0.999999999999914	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.47	4.56	0.55644	7.798000	0.84489	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1552:0.8448:0.0:0.0	13.749	0.62377	933	0.16026	Annexin repeat, conserved site;Annexin repeat, conserved site;.;Annexin repeat, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	574.53	64	chr10	80164097	.	C	T	574.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.439;DP=292;ExcessHet=0;FS=0.966;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=0.524;SOR=0.633	GT:AD:DP:GQ:PL	0/1:37,27:64:99:585,0,873	6	0	1	0
chr10	87741315	87741315	C	T	exonic	PAPSS2	.	synonymous SNV	PAPSS2:NM_004670:exon9:c.C1152T:p.D384D,PAPSS2:NM_001015880:exon10:c.C1167T:p.D389D	Brachyolmia 4 with mild epiphyseal and metaphyseal changes, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	272393	not_provided|Spondyloepimetaphyseal_dysplasia,_PAPSS2_type	MedGen:C3661900|MONDO:MONDO:0019666,MedGen:C2748516,OMIM:612847,Orphanet:93282	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000599042	0.0007	0	0.0003	0	0	0.0006	0	0.0020	0.0006015	93	154602	rs145242127	0.0004	0.0004	0.0003	0.0005	0.0146	0.0004	0.0004	0.0121	0.0111	5.976e-05	0.0003	7.653e-05	0	1.872e-05	0.0146	0.0002	0.0008	0.0027	0.0008	0.0008	0.0007	0.0008	0.0031	0.0006	0.0006	0.0019	0.0015	7.222e-05	0.0473	0.0012	0	0	0	0.0068	0.0005	0.0009	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.005045	0.000000	0.000000	0.011696	0.000000	0.017241	0.006135	0.007634	0.08333	796.27	67	chr10	87741315	.	C	T	796.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.575;DP=239;ExcessHet=0;FS=3.305;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.823;SOR=0.921	GT:AD:DP:GQ:PL	0/1:32,35:67:99:806,0,687	5	0	1	1
chr10	99709472	99709472	T	C	UTR3	ENTPD7	NM_020354:c.*4789T>C;NM_001349962:c.*4789T>C;NM_001349963:c.*4789T>C	.	.	.	.	.	.	.	.	.	.	.	.	.	868552	Leigh_syndrome|not_provided	MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00599042	.	.	.	.	.	.	.	.	0.0052251	136	26028	rs148302095	0.0032	0.0032	0.0032	0.0032	0.0216	0.0031	0.0031	0.0160	0.0140	0.0045	0.0030	0.0214	0	0.0036	0.0216	0.0027	0.0059	0.0151	0.0045	0.0045	0.0044	0.0045	0.0151	0.0042	0.0041	0.0123	0.0113	0.0054	0	0.0040	0.0233	0	0.0007	0.0136	0.0032	0.0047	0.0151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	43.18	2	chr10	99709472	.	T	C	43.18	.	AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=60;QD=21.59;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	1	0	6
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	2692.79	21	chr10	123053169	.	AT	A	2692.79	.	AC=12;AF=0.857;AN=14;BaseQRankSum=-0.229;DP=185;ExcessHet=0.3476;FS=1.039;MLEAC=12;MLEAF=0.857;MQ=60;MQRankSum=0;QD=22.25;ReadPosRankSum=-0.514;SOR=0.876	GT:AD:DP:GQ:PL	1/1:0,21:21:63:584,63,0	0	5	2	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	21	72	439	990	0	2419	0.943816	.	.	.	326978	Maturity-onset_diabetes_of_the_young_type_10|Type_1_diabetes_mellitus_2|Autosomal_recessive_DOPA_responsive_dystonia|Diabetes_mellitus,_permanent_neonatal_4|Transient_Neonatal_Diabetes,_Dominant/Recessive|Diabetes_mellitus_type_1|not_provided|Hyperproinsulinemia|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MedGen:CN239353|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|MedGen:C3661900|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.7857	13545.1	83	chr11	2159830	.	T	G	13545.1	.	AC=11;AF=0.786;AN=14;BaseQRankSum=0.117;DP=679;ExcessHet=1.1394;FS=1.243;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=20.37;ReadPosRankSum=1.65;SOR=0.6	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,83:83:99:.:.:2408,249,0:.	0	4	3	0
chr11	6616509	6616509	T	-	intronic	TPP1	.	.	.	Ceroid lipofuscinosis, neuronal, 2, Autosomal recessive;Spinocerebellar ataxia, autosomal recessive 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	321432	Neuronal_Ceroid-Lipofuscinosis,_Recessive|Neuronal_ceroid_lipofuscinosis_2|not_specified|not_provided	MedGen:CN239323|MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1142	0.0799	0.0493	0.0916	0.0410	0.1069	0.1220	0.1456	0.0005379	14	26028	rs35039601	0.3989	0.3867	0.4023	0.3954	0.4118	0.3980	0.3976	0.4108	0.4104	0.3181	0.3268	0.3599	0.3573	0.3454	0.3614	0.4118	0.3926	0.3499	0.5430	0.5451	0.5416	0.5444	0.6143	0.5396	0.5382	0.5937	0.5854	0.4376	0.6847	0.5590	0.5754	0.5442	0.5465	0.5397	0.5915	0.5301	0.6143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2727.75	14	chr11	6616508	.	AT	A	2727.75	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.05;DP=225;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=23.52;ReadPosRankSum=1.74;SOR=0.808	GT:AD:DP:GQ:PL	0/1:1,5:14:1:259,134,123	4	0	2	1
chr11	17276578	17276578	C	G	upstream	NUCB2	dist=136	.	.	.	1177	165	27	153	0	333	0.502262	.	.	.	132617	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.665136	.	.	.	.	.	.	.	.	0.611226	15909	26028	rs214088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6236	0.6237	0.6233	0.6239	0.8166	0.6202	0.6189	0.7960	0.7876	0.6476	0.6747	0.6715	0.6983	0.8166	0.5278	0.6156	0.5913	0.6627	0.6438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	343.05	2	chr11	17276578	.	C	G	343.05	.	AC=6;AF=0.6;AN=10;DP=18;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.5;MQ=60;QD=31.7;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:17276557_A_C:90,6,0:17276557	2	3	0	2
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	9	194	657	662	0	1981	0.836218	.	.	.	319487	Diabetes_mellitus,_transient_neonatal,_3|Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.735823	.	.	.	.	.	.	.	.	0.02213	576	26028	rs5213	0.6509	0.6490	0.6528	0.6489	0.9329	0.6497	0.6492	0.9237	0.9199	0.9329	0.6277	0.6666	0.6333	0.5278	0.7238	0.6500	0.6663	0.6293	0.7178	0.7178	0.7241	0.7113	0.9199	0.7143	0.7128	0.9122	0.9090	0.9199	0.5746	0.6767	0.6737	0.6457	0.5344	0.7041	0.6490	0.6958	0.6272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.8571	8772.06	30	chr11	17386857	.	C	T	8772.06	.	AC=12;AF=0.857;AN=14;BaseQRankSum=0;DP=312;ExcessHet=0.3476;FS=0;MLEAC=12;MLEAF=0.857;MQ=60;MQRankSum=0;QD=28.95;ReadPosRankSum=-1.068;SOR=0.825	GT:AD:DP:GQ:PL	1/1:0,30:30:90:973,90,0	0	5	2	0
chr11	17393023	17393023	C	T	exonic	ABCC8	.	nonsynonymous SNV	ABCC8:NM_000352:exon39:c.G4714A:p.V1572I,ABCC8:NM_001287174:exon39:c.G4717A:p.V1573I,ABCC8:NM_001351295:exon39:c.G4780A:p.V1594I,ABCC8:NM_001351296:exon39:c.G4714A:p.V1572I,ABCC8:NM_001351297:exon39:c.G4711A:p.V1571I	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	1264	229	29	0	287	0.101954	.	.	.	167553	not_specified|Transient_Neonatal_Diabetes,_Dominant|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hereditary_hyperinsulinism|Neonatal_hypoglycemia|Permanent_neonatal_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Hyperinsulinism,_Dominant/Recessive	MedGen:CN169374|MedGen:CN239283|MedGen:C3661900|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|.|Human_Phenotype_Ontology:HP:0001998,MedGen:C0158986|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:CN239464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.172	.	0.0554	0.0311502	0.0562	0.0284	0.0283	0.0005	0.0384	0.0709	0.0721	0.0693	0.0551287	8523	154602	rs8192690	0.0582	0.0582	0.0571	0.0594	0.1014	0.0579	0.0578	0.0946	0.0919	0.0305	0.0323	0.1453	0.0047	0.0393	0.1014	0.0597	0.0621	0.0682	0.0505	0.0505	0.0521	0.0488	0.0637	0.0495	0.0492	0.0621	0.0614	0.0298	0.0462	0.0475	0.1510	0.0017	0.0370	0.0918	0.0637	0.0614	0.0559	0.461	0.08839	T	0.932	0.02759	T	0.005	0.12996	B	0.002	0.06944	B	0.001201	0.39899	N	0.211847	0.999403	0.46935	D	-0.105	0.04674	N	-2.66	0.90272	D	0.09	0.05917	N	0.031	0.00770	-0.8860	0.49273	T	0.060	0.24981	T	10	0.0015296042	0.00017	T	.	.	.	0.172	0.43662	.	.	.	.	0.686121190666775	0.68552	0.573721100839	0.53415	0.297033429146	0.09959	T	0.325293	0.69602	T	-0.524791	0.00412	T	-0.476345	0.24835	T	0.000768647569014637	0.00007	T	0.853715	0.53946	D	0.021481223	0.00753	0.025963206	0.00662	0.029005436	0.02326	0.025963206	0.00662	-3.672	0.18905	T	0.12925399021544368	0.13478	0.068	0.04316	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.999690	0.13782	10.33	0.86328323834373999	0.16463	0.25673	0.22769	N	AEFDBI	0.219392	0.34428	N	-0.96217036324778	0.09421	0.4458007	-0.827751153180889	0.13824	0.7191935	0.998921802827047	0.37985	0.713056	0.82018	0	0.547309	0.14657	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	5.2	1.28	0.20656	0.486000	0.22048	-3.237000	0.02946	-0.182000	0.10109	0.037000	0.20830	0.000000	0.08366	0.805000	0.37950	0.0:0.6252:0.0:0.3748	8.346	0.31437	594	0.68584	ABC transporter-like;.;ABC transporter-like;.;ABC transporter-like;ABC transporter-like;ABC transporter-like;ABC transporter-like	RP1-239B22.5|NCR3LG1|RP1-239B22.5|RP1-239B22.5|NCR3LG1|RP1-239B22.5|RP1-239B22.5|RP1-239B22.5|NCR3LG1|RP1-239B22.5|KCNJ11|NCR3LG1|NCR3LG1|RP1-239B22.5	Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Mucosa|Nerve_Tibial|Testis|Testis	.	.	rs8192690	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.088117	0.090909	0.103261	0.078947	0.000000	0.112069	0.100610	0.071970	0.07143	1142.49	110	chr11	17393023	.	C	T	1142.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.896;DP=305;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.713;SOR=0.74	GT:AD:DP:GQ:PL	0/1:59,51:110:99:1153,0,1308	6	0	1	0
chr11	17395957	17395957	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	445	728	343	0	1414	0.613715	.	.	.	167548	not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4704	0.421526	0.4583	0.7635	0.5950	0.1792	0.4136	0.4287	0.4590	0.3842	0.0121792	317	26028	rs739689	0.3432	0.3401	0.3432	0.3431	0.7497	0.3424	0.3420	0.7418	0.7385	0.7497	0.4335	0.4145	0.1096	0.2056	0.4979	0.3368	0.3619	0.3678	0.4400	0.4401	0.4495	0.4300	0.7292	0.4372	0.4361	0.7223	0.7195	0.7292	0.2325	0.4480	0.4173	0.0892	0.1976	0.4286	0.3364	0.4347	0.3522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	5191.26	31	chr11	17395957	.	A	G	5191.26	.	AC=9;AF=0.75;AN=12;BaseQRankSum=1.85;DP=219;ExcessHet=0;FS=5.611;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=30.18;ReadPosRankSum=-0.829;SOR=0.18	GT:AD:DP:GQ:PL	1/1:0,31:31:93:993,93,0	1	4	1	1
chr11	17396823	17396823	C	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	16	869	514	123	0	760	0.304243	.	.	.	1166870	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.215855	.	.	.	.	.	.	.	.	0.0387317	5988	154602	rs4148644	0.1966	0.1974	0.1962	0.1971	0.2811	0.1960	0.1958	0.2762	0.2742	0.2811	0.1956	0.2030	0.0815	0.1224	0.2608	0.1993	0.1943	0.2164	0.2111	0.2113	0.2172	0.2047	0.2771	0.2092	0.2084	0.2729	0.2711	0.2771	0.1327	0.2051	0.1967	0.0754	0.1226	0.2177	0.1980	0.2055	0.2143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2801.53	9	chr11	17396823	.	C	A	2801.53	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.12;DP=103;ExcessHet=0;FS=3.435;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.62;ReadPosRankSum=-0.7;SOR=2.33	GT:AD:DP:GQ:PL	0/1:4,5:9:99:145,0,105	3	3	1	0
chr11	17414389	17414389	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	87	248	463	724	0	1911	0.793934	.	.	.	1166872	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	0.146059	22581	154602	rs4148631	0.7539	0.7531	0.7539	0.7539	0.8624	0.7526	0.7521	0.8546	0.8514	0.5784	0.8469	0.7895	0.8624	0.7273	0.7046	0.7512	0.7604	0.7470	0.7155	0.7155	0.7141	0.7170	0.8819	0.7120	0.7105	0.8605	0.8518	0.5817	0.8136	0.7993	0.7954	0.8819	0.7282	0.7415	0.7540	0.7427	0.7632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1806.31	8	chr11	17414389	.	G	A	1806.31	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.869;DP=132;ExcessHet=2.3007;FS=5.382;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=17.04;ReadPosRankSum=0.276;SOR=1.473	GT:AD:DP:GQ:PL	0/1:4,4:8:99:131,0,143	1	1	4	1
chr11	17414419	17414419	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	19	213	530	760	0	2050	0.827948	.	.	.	1166873	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.746605	.	.	.	.	.	.	.	.	0.146842	22702	154602	rs4148630	0.7523	0.7519	0.7521	0.7525	0.8627	0.7511	0.7506	0.8550	0.8518	0.5795	0.8463	0.7888	0.8627	0.7268	0.7049	0.7499	0.7602	0.7471	0.7153	0.7153	0.7139	0.7168	0.8826	0.7118	0.7103	0.8612	0.8524	0.5812	0.8136	0.7993	0.7953	0.8826	0.7283	0.7415	0.7538	0.7427	0.7630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	2702.67	17	chr11	17414419	.	G	A	2702.67	.	AC=8;AF=0.571;AN=14;BaseQRankSum=-0.719;DP=210;ExcessHet=1.4958;FS=0.661;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.696;SOR=0.807	GT:AD:DP:GQ:PL	0/1:11,6:17:99:154,0,341	1	2	4	0
chr11	17415389	17415389	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	93	473	950	0	2373	0.927315	.	.	.	1166874	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8933	0.903754	0.8760	0.9698	0.9072	0.9098	0.8748	0.8620	0.8614	0.8369	0.0257799	671	26028	rs4148626	0.8556	0.8554	0.8570	0.8542	0.9669	0.8544	0.8538	0.9580	0.9544	0.9669	0.9065	0.8766	0.8902	0.8652	0.8093	0.8498	0.8683	0.8281	0.8916	0.8915	0.8919	0.8912	0.9632	0.8876	0.8859	0.9553	0.9520	0.9632	0.9134	0.8977	0.8767	0.9121	0.8731	0.8163	0.8526	0.8931	0.8328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	5630.32	33	chr11	17415389	.	A	G	5630.32	.	AC=10;AF=0.714;AN=14;BaseQRankSum=1.02;DP=295;ExcessHet=0.0921;FS=0;MLEAC=10;MLEAF=0.714;MQ=60;MQRankSum=0;QD=22.08;ReadPosRankSum=-0.28;SOR=0.66	GT:AD:DP:GQ:PL	0/1:12,21:33:99:480,0,272	1	4	2	0
chr11	17428382	17428382	C	T	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon14:c.G1947A:p.K649K,ABCC8:NM_001287174:exon14:c.G1947A:p.K649K,ABCC8:NM_001351295:exon14:c.G2013A:p.K671K,ABCC8:NM_001351296:exon14:c.G1944A:p.K648K,ABCC8:NM_001351297:exon14:c.G1944A:p.K648K	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	1	1120	365	36	0	437	0.163242	.	.	YES	167534	Permanent_neonatal_diabetes_mellitus|Type_2_diabetes_mellitus|not_specified|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|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|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1567	0.202077	0.1785	0.1816	0.1202	0.1671	0.1980	0.1587	0.1689	0.2962	0.173064	26756	154602	rs1799858	0.1599	0.1599	0.1565	0.1632	0.2802	0.1593	0.1591	0.2773	0.2760	0.1811	0.1311	0.1863	0.1992	0.1981	0.1185	0.1471	0.1660	0.2802	0.1659	0.1663	0.1609	0.1712	0.2891	0.1642	0.1635	0.2764	0.2713	0.1777	0.1187	0.1581	0.1907	0.1991	0.1888	0.0918	0.1457	0.1552	0.2891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.123867	0.075758	0.101902	0.160819	0.050000	0.129310	0.094512	0.174242	0.3333	2416.73	51	chr11	17428382	.	C	T	2416.73	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.275;DP=299;ExcessHet=3.1439;FS=3.785;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.42;SOR=0.498	GT:AD:DP:GQ:PL	0/1:32,19:51:99:446,0,807	2	0	4	1
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H,ABCC8:NM_001287174:exon12:c.C1686T:p.H562H,ABCC8:NM_001351295:exon12:c.C1686T:p.H562H,ABCC8:NM_001351296:exon12:c.C1683T:p.H561H,ABCC8:NM_001351297:exon12:c.C1683T:p.H561H	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	8	536	705	273	0	1251	0.538528	.	.	.	167532	Permanent_neonatal_diabetes_mellitus|not_provided|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Cerebral_edema|not_specified|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4587	0.429912	0.4311	0.4812	0.3021	0.2844	0.4180	0.4470	0.4546	0.5041	0.426075	65872	154602	rs1799857	0.4459	0.4459	0.4447	0.4471	0.4959	0.4450	0.4446	0.4920	0.4904	0.4747	0.3195	0.4445	0.3087	0.4107	0.4108	0.4535	0.4380	0.4959	0.4417	0.4417	0.4437	0.4395	0.4867	0.4389	0.4377	0.4745	0.4722	0.4801	0.3516	0.3803	0.4438	0.3002	0.4127	0.3537	0.4459	0.4296	0.4867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.414560	0.333333	0.405995	0.438596	0.500000	0.500000	0.393293	0.431298	0.6429	14305.1	100	chr11	17430945	.	G	A	14305.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-0.269;DP=617;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=25.5;ReadPosRankSum=0.118;SOR=0.716	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3044,299,0	2	4	1	0
chr11	17463424	17463424	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	597	684	234	0	1152	0.491049	.	.	.	167555	Permanent_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Type_2_diabetes_mellitus|not_provided|not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4870	0.467452	0.4604	0.7151	0.4818	0.4464	0.4098	0.4555	0.4456	0.3192	0.372013	57514	154602	rs2301703	0.3874	0.3872	0.3905	0.3843	0.7153	0.3865	0.3862	0.7077	0.7046	0.7153	0.4086	0.4696	0.3885	0.2994	0.4663	0.3843	0.4145	0.2911	0.4703	0.4705	0.4769	0.4636	0.7012	0.4675	0.4663	0.6944	0.6916	0.7012	0.3910	0.4287	0.4772	0.4001	0.2910	0.5340	0.3849	0.4706	0.2955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	4688.72	118	chr11	17463424	.	G	A	4688.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.015;DP=459;ExcessHet=1.1394;FS=0.912;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.414;SOR=0.63	GT:AD:DP:GQ:PL	0/1:52,66:118:99:1748,0,1243	4	0	3	0
chr11	17553211	17553211	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon4:c.G421A:p.V141M,OTOG:NM_001292063:exon5:c.G385A:p.V129M	Deafness, autosomal recessive 18B, Autosomal recessive	8	1506	8	0	0	8	0.00264901	1.0000	0.996	.	230045	Meniere_disease|not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_18B|OTOG-related_disorder	MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013985,MedGen:C3554163,OMIM:614945,Orphanet:90636|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.252	.	.	0.000599042	0.0004	0.0011	0	0	0	0.0008	0	0.0001	0.0001876	29	154602	rs552304627	0.0009	0.0009	0.0009	0.0009	0.0019	0.0009	0.0009	0.0012	0.0011	6.33e-05	0.0016	7.947e-05	0	4.164e-05	0.0019	0.0011	0.0009	0.0001	0.0008	0.0008	0.0008	0.0009	0.0018	0.0007	0.0007	0.0012	0.0011	0.0003	0.0011	0.0018	0.0003	0	0	0.0136	0.0012	0.0009	0	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000131	0.49741	U	0.000000	0.999995	0.58761	D	2.275	0.64647	M	2.11	0.19860	T	-2.28	0.50830	N	0.498	0.53884	0.735	0.93610	D	0.810	0.93572	D	8	0.029867262	0.01113	T	0.152769	0.83414	D	0.252	0.56159	.	.	0.289098819767	0.28531	0.40285226492066106	0.40201	.	.	0.809623837471	0.83434	D	0.138145	0.47147	T	-0.27063	0.11686	T	-0.168782	0.57554	T	0.0839331305810653	0.10482	T	0.862614	0.55818	D	0.30592415	0.53430	0.4042858	0.64861	0.3123483	0.53988	0.39376733	0.64087	-5.755	0.44180	T	.	.	0.744	0.78641	P	.;.;.	.;.;.	6.335095	0.95035	34	0.99877465426074996	0.95410	0.99029	0.90187	D	AEFDBI	0.916781	0.88347	D	0.664749203087661	0.77325	6.653394	0.615510663787076	0.76067	6.423032	0.999999999988696	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	9.602000	0.97623	11.698000	0.94457	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	18.695	0.91557	754	0.51307	von Willebrand factor, type D domain;von Willebrand factor, type D domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	434.83	38	chr11	17553211	.	G	A	434.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.62;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.947;SOR=0.636	GT:AD:DP:GQ:PL	0/1:22,16:38:99:445,0,590	6	0	1	0
chr11	17642200	17642200	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon52:c.G8405A:p.R2802H,OTOG:NM_001292063:exon53:c.G8369A:p.R2790H	Deafness, autosomal recessive 18B, Autosomal recessive	8	1492	20	2	0	24	0.00797872	.	.	.	230180	Meniere_disease|not_provided|not_specified	MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.059	0.0283372504366	.	0.00239617	0.0037	0	0.0070	0	0	0.0058	0	0.0031	0.000925	143	154602	rs117315845	0.0023	0.0022	0.0024	0.0023	0.0079	0.0023	0.0022	0.0061	0.0054	0.0005	0.0029	0.0118	8.395e-05	2.078e-05	0.0079	0.0022	0.0031	0.0025	0.0020	0.0020	0.0021	0.0020	0.0029	0.0019	0.0018	0.0022	0.0021	0.0005	0	0.0029	0.0141	0.0002	0	0.0068	0.0025	0.0047	0.0027	0.235	0.18000	T	0.032	0.53426	D	.	.	.	.	.	.	0.415666	0.12937	U	0.633406	0.997058	0.22807	N	0	0.06538	N	2.34	0.16351	T	-0.79	0.21860	N	0.12	0.11054	-1.0156	0.25143	T	0.013	0.05273	T	8	0.0062504113	0.00141	T	0.028337	0.51029	D	0.059	0.16972	.	.	0.104622674875	0.10061	0.322351961586085	0.32148	.	.	0.453960210085	0.32485	T	0.069659	0.33766	T	-0.622543	0.00106	T	-0.670695	0.07564	T	0.0170966670649605	0.00455	T	0.79692	0.44325	T	0.03753874	0.04831	0.030210957	0.01449	0.044588383	0.07152	0.042879596	0.05206	-4.586	0.31995	T	.	.	0.087	0.13597	B	.;.	.;.	2.990201	0.39914	21.1	0.9623178987708948	0.29122	0.54556	0.29645	D	AEFDBI	0.232467	0.35553	N	-0.464700989427482	0.23244	1.246863	-0.420621056808819	0.24392	1.335474	3.90753324716607E-4	0.06781	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.98	1.77	0.23848	2.720000	0.46921	3.318000	0.37521	-0.182000	0.10109	0.651000	0.28180	1.000000	0.68203	0.095000	0.18041	0.193:0.2781:0.3936:0.1353	1.796	0.02876	677	0.60274	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1021.49	80	chr11	17642200	.	G	A	1021.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.076;DP=255;ExcessHet=0;FS=1.848;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.387;SOR=0.801	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1032,0,768	6	0	1	0
chr11	72095011	72095011	G	C	exonic	LRTOMT	.	nonsynonymous SNV	LRTOMT:NM_001205138:exon4:c.G298C:p.G100R,LRTOMT:NM_001145307:exon5:c.G352C:p.G118R,LRTOMT:NM_001271471:exon5:c.G352C:p.G118R,LRTOMT:NM_001318803:exon5:c.G352C:p.G118R,LRTOMT:NM_145309:exon5:c.G352C:p.G118R	Deafness, autosomal recessive 63, Autosomal recessive	0	1513	8	1	0	10	0.00329381	.	.	.	230229	Autosomal_recessive_nonsyndromic_hearing_loss_63|not_specified|not_provided|LRTOMT-related_disorder	MONDO:MONDO:0012670,MedGen:C1969621,OMIM:611451,Orphanet:90636|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.114	.	0.0053	0.00359425	0.0049	0.0021	0.0022	0	0.0127	0.0068	0.0066	0.0004	0.0050452	780	154602	rs149637884	0.0064	0.0064	0.0066	0.0062	0.0074	0.0063	0.0063	0.0072	0.0072	0.0010	0.0030	0.0017	0	0.0114	0.0042	0.0074	0.0058	0.0006	0.0045	0.0045	0.0043	0.0047	0.0060	0.0042	0.0041	0.0054	0.0052	0.0015	0	0.0060	0.0020	0	0.0111	0.0034	0.0058	0.0047	0.0002	0.166	0.24758	T	0.497	0.11299	T	0.01	0.27266	B	0.01	0.24832	B	0.080132	0.20943	N	0.501814	1	0.81001	D	2.155	0.60227	M	-0.21	0.66294	T	-0.69	0.21215	N	0.367	0.41853	-1.0368	0.18295	T	0.083	0.32440	T	10	0.008438677	0.00191	T	.	.	.	0.114	0.32008	0.379	0.39482	0.480574121323	0.47689	.	.	.	.	0.459091573954	0.33186	T	0.007208	0.06625	T	-0.367302	0.03733	T	-0.294124	0.45343	T	0.00326756443632443	0.00034	T	0.905209	0.74506	D	.	.	.	.	.	.	.	.	-8.945	0.68261	D	0.10690774698806924	0.08643	0.160	0.43116	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.973222	0.39636	21.0	0.87029333014338728	0.16939	0.79943	0.39717	D	AEFDGBCIJ	0.274436	0.38962	N	-0.504449875041368	0.21935	1.167774	-0.350621122489587	0.26489	1.46349	0.999996507289428	0.74766	0.536635	0.22144	0	0.577304	0.33150	0	0.489635	0.07774	0	0.636168	0.56350	0	.	.	5.45	3.23	0.36150	1.556000	0.35895	3.812000	0.39914	-0.161000	0.11593	1.000000	0.71638	1.000000	0.68203	0.333000	0.25271	0.1889:0.0:0.6484:0.1627	5.553	0.16386	557	0.71576	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	DHCR7	Cells_EBV-transformed_lymphocytes	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.010101	0.004076	0.000000	0.000000	0.017241	0.009146	0.000000	0.07143	393.53	45	chr11	72095011	.	G	C	393.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.897;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-1.326;SOR=0.653	GT:AD:DP:GQ:PL	0/1:25,20:45:99:404,0,647	6	0	1	0
chr11	77156699	77156699	G	A	exonic	MYO7A	.	synonymous SNV	MYO7A:NM_000260:exon6:c.G510A:p.L170L,MYO7A:NM_001127180:exon6:c.G510A:p.L170L,MYO7A:NM_001369365:exon7:c.G477A:p.L159L	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	0	1479	41	2	0	45	0.014985	.	.	.	52442	Autosomal_dominant_nonsyndromic_hearing_loss_11|Usher_syndrome_type_1B|MYO7A-related_disorder|not_specified|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_2|not_provided	MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0700087,MedGen:C2931206|.|MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.000998403	0.0025	0.0005	0.0021	0	0.0002	0.0031	0.0022	0.0040	0.0023738	367	154602	rs34477144	0.0018	0.0018	0.0016	0.0019	0.0347	0.0017	0.0017	0.0308	0.0292	0.0011	0.0030	0.0112	0	0.0001	0.0347	0.0012	0.0035	0.0039	0.0015	0.0015	0.0017	0.0013	0.0029	0.0013	0.0013	0.0018	0.0014	0.0005	0	0.0017	0.0115	0.0002	9.411e-05	0.0374	0.0016	0.0024	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.021148	0.015152	0.025815	0.032164	0.050000	0.008621	0.009146	0.007576	0.07143	775.46	67	chr11	77156699	.	G	A	775.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.495;DP=241;ExcessHet=0;FS=2.291;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.063;SOR=1.07	GT:AD:DP:GQ:PL	0/1:38,29:67:99:786,0,1042	6	0	1	0
chr11	89191378	89191378	G	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon2:c.G996A:p.M332I	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	1	1517	2	2	0	6	0.00197368	.	.	YES	1170272	not_provided|Abnormality_of_the_skin|Oculocutaneous_albinism_type_1A|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MedGen:C2677190,OMIM:601800	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.816	0.452783023193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.077	0.42436	T	0.985	0.61118	D	0.977	0.73820	D	0.000000	0.84330	N	0.034352	1	0.81001	D	2.5	0.72771	M	-4.47	0.97583	D	-0.86	0.23372	N	0.924	0.92784	1.077	0.98798	D	0.948	0.98287	D	9	0.89743793	0.89100	D	0.452783	0.94373	D	0.816	0.94085	0.564	0.68499	0.999915359409	0.99991	0.8442407316737897	0.84385	0.0739840921623	0.08289	0.513606905937	0.40727	T	0.703991	0.91501	D	0.49892	0.94263	D	0.478887	0.94184	D	0.967107117176056	0.67799	D	0.933907	0.75239	D	0.80760825	0.84396	0.71026814	0.82910	0.80760825	0.84398	0.71026814	0.82911	-2.292	0.04511	T	0.5667168270684695	0.63413	0.458	0.62616	A	.	.	4.710871	0.75672	26.4	0.99709727968769313	0.81213	0.98032	0.79028	D	AEFI	0.938470	0.93771	D	0.731490665441918	0.81697	7.583261	0.683030735018421	0.81092	7.446299	0.556091860729777	0.21375	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	4.67	0.58089	7.465000	0.79922	11.679000	0.94198	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.863:0.137	15.818	0.78393	875	0.30485	Tyrosinase copper-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	486.45	59	chr11	89191378	.	G	A	486.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.301;DP=242;ExcessHet=0;FS=2.383;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=-1.057;SOR=0.392	GT:AD:DP:GQ:PL	0/1:36,23:59:99:497,0,1013	6	0	1	0
chr11	103155417	103155417	T	C	exonic	DYNC2H1	.	synonymous SNV	DYNC2H1:NM_001080463:exon25:c.T3660C:p.P1220P,DYNC2H1:NM_001377:exon25:c.T3660C:p.P1220P	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	1	1493	28	0	0	28	0.00928998	.	.	.	324578	Asphyxiating_thoracic_dystrophy_3|not_provided|not_specified|Short_rib-polydactyly_syndrome|Jeune_thoracic_dystrophy	MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0149	0.00539137	0.0169	0.0030	0.0084	0.0001	0.0231	0.0253	0.0136	0.0038	0.0172507	2667	154602	rs118191062	0.0221	0.0221	0.0227	0.0215	0.0258	0.0219	0.0218	0.0255	0.0254	0.0031	0.0109	0.0061	5.046e-05	0.0248	0.0123	0.0258	0.0190	0.0041	0.0153	0.0153	0.0155	0.0152	0.0240	0.0148	0.0146	0.0230	0.0226	0.0039	0	0.0147	0.0049	0.0004	0.0225	0	0.0240	0.0189	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.012588	0.020202	0.012228	0.011696	0.050000	0.000000	0.012195	0.007576	0.07143	1462.53	123	chr11	103155417	.	T	C	1462.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.048;DP=349;ExcessHet=0;FS=2.281;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.351;SOR=0.906	GT:AD:DP:GQ:PL	0/1:55,68:123:99:1473,0,1134	6	0	1	0
chr12	6018369	6018369	T	G	exonic	VWF	.	synonymous SNV	VWF:NM_000552:exon28:c.A5049C:p.A1683A	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	0	780	740	2	0	744	0.322917	.	.	.	266166	not_provided|not_specified|von_Willebrand_disease_type_2|Hereditary_von_Willebrand_disease|von_Willebrand_disease_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022509	348	154602	rs79275181	0.0541	0.1753	0.0514	0.0568	0.1039	0.0537	0.0535	0.0948	0.0912	0.0354	0.0602	0.0362	0.0427	0.0518	0.1039	0.0556	0.0445	0.0580	0.0156	0.0580	0.0139	0.0174	0.0276	0.0150	0.0148	0.0233	0.0217	0.0133	0.0179	0.0169	0.0164	0.0276	0.0176	0	0.0152	0.0178	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3571	812.73	18	chr12	6018369	.	T	G	812.73	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.411;DP=213;ExcessHet=4.7409;FS=6.291;MLEAC=5;MLEAF=0.357;MQ=55.2;MQRankSum=-5.884;QD=4.32;ReadPosRankSum=1.58;SOR=0.36	GT:AD:DP:GQ:PL	0/1:12,6:18:99:108,0,368	2	0	5	0
chr12	6936729	6936737	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1462_1470del:p.Q500_Q502del,ATN1:NM_001940:exon5:c.1462_1470del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1274995	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1316794609	0.0263	0.0264	0.0253	0.0274	0.2237	0.0261	0.0260	0.2193	0.2175	0.2237	0.0764	0.0486	0.0300	0.0092	0.0510	0.0147	0.0377	0.0719	0.0814	0.0825	0.0827	0.0801	0.2309	0.0802	0.0797	0.2269	0.2253	0.2309	0.0045	0.0638	0.0459	0.0345	0.0085	0.0382	0.0170	0.0662	0.0715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10575.4	39	chr12	6936728	.	ACAGCAGCAG	A	10575.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.681;DP=399;ExcessHet=0.3476;FS=6.639;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=34.22;ReadPosRankSum=0.839;SOR=0.751	GT:AD:DP:GQ:PL	0/1:19,20:39:99:773,0,689	6	0	1	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374648:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374649:exon1:c.136_147del:p.E48_S51del,PEX5:NM_000319:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131023:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001131024:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131025:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001300789:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351124:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351126:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351128:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351130:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351131:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351132:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351134:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351135:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351136:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351137:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351138:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351139:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374645:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374646:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131026:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351127:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351133:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351140:exon3:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	0	177	7	42	0	91	0.204494	.	.	.	778118	Peroxisome_biogenesis_disorder_2B|Rhizomelic_chondrodysplasia_punctata_type_5|not_specified|Peroxisome_biogenesis_disorder_2A_(Zellweger)|not_provided	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MedGen:CN169374|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.268e-05	0.0004	0	0	0	1.945e-05	0	0	3.84e-05	1	26028	rs757612863	0.2520	0.2523	0.2418	0.2624	0.7201	0.2513	0.2511	0.7131	0.7102	0.2717	0.3801	0.4508	0.7201	0.5171	0.2871	0.1987	0.3556	0.3579	0.5401	0.6749	0.5600	0.5186	0.6619	0.5362	0.5345	0.6379	0.6282	0.4367	0.4674	0.5855	0.6481	0.6619	0.4898	0.5586	0.6009	0.5226	0.2956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1593.15	6	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	1593.15	.	AC=6;AF=0.429;AN=14;DP=218;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.429;MQ=59.37;QD=30.3;SOR=1.547	GT:AD:DP:GQ:PL	1/1:0,6:6:24:283,24,0	4	3	0	0
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	15	41	80	27	63	197	0.62037	.	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2310.01	23	chr12	21174718	.	T	TA	2310.01	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.368;DP=261;ExcessHet=1.4958;FS=0;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=1.71;SOR=0.671	GT:AD:DP:GQ:PL	1/0:0,11:23:99:575,246,181	2	0	5	0
chr12	47845054	47845054	C	A	intronic	VDR	.	.	.	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	84	358	570	510	0	1590	0.689506	.	.	.	1242175	Hepatocellular_carcinoma|not_provided|Vitamin_D-dependent_rickets_type_II_with_alopecia|Periodontitis	Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C3661900|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5622	0.515375	0.5187	0.6234	0.3909	0.2778	0.5489	0.5375	0.5256	0.5796	0.50879	78660	154602	rs7975232	0.5254	0.5252	0.5231	0.5277	0.6365	0.5244	0.5240	0.6294	0.6264	0.6365	0.4233	0.5667	0.3056	0.5525	0.6244	0.5274	0.5314	0.5759	0.5491	0.5493	0.5492	0.5489	0.6267	0.5459	0.5446	0.6203	0.6176	0.6267	0.5894	0.5041	0.5828	0.2901	0.5503	0.5548	0.5281	0.5518	0.5587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	1665.97	9	chr12	47845054	.	C	A	1665.97	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-1.02;DP=78;ExcessHet=1.383;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=21.92;ReadPosRankSum=0.386;SOR=0.749	GT:AD:DP:GQ:PL	1/1:0,9:9:27:301,27,0	0	3	3	1
chr12	47879112	47879112	A	G	exonic	VDR	.	startloss	VDR:NM_001374662:exon2:c.T2C:p.M1?,VDR:NM_000376:exon3:c.T2C:p.M1?,VDR:NM_001017536:exon3:c.T152C:p.M51T,VDR:NM_001374661:exon3:c.T2C:p.M1?,VDR:NM_001017535:exon4:c.T2C:p.M1?	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	6	103	520	893	0	2306	0.917994	.	.	YES	331088	Periodontitis|not_provided|not_specified|Vitamin_D-dependent_rickets_type_II_with_alopecia	Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.503	.	0.6732	0.671526	0.6376	0.7880	0.5203	0.5448	0.6403	0.6138	0.6512	0.7671	0.62549	96702	154602	rs2228570	0.6253	0.6253	0.6210	0.6296	0.7904	0.6242	0.6238	0.7824	0.7791	0.7904	0.5345	0.5612	0.5913	0.6341	0.7321	0.6142	0.6362	0.7660	0.6621	0.6625	0.6611	0.6633	0.7801	0.6587	0.6573	0.7730	0.7701	0.7801	0.7368	0.5776	0.5716	0.5697	0.6440	0.6939	0.6163	0.6895	0.7391	0.0	0.91255	D	0.013	0.63109	D	0.289	0.32288	B	0.275	0.40079	B	0.000031	0.55875	D	0.149012	0.989818	0.81001	P	.	.	.	-3.24	0.93882	D	0.36	0.09460	N	0.34	0.38129	-0.9252	0.44829	T	0.000	0.00011	T	8	8.306137e-06	0.00003	T	.	.	.	0.503	0.78538	.	.	.	.	0.3450707945471	0.34421	0.570787460381	0.53228	0.625708281994	0.56536	T	0.324761	0.69555	T	-0.283926	0.10255	T	-0.036796	0.67917	D	0.0963817504551405	0.11954	T	0.9	0.65058	D	0.68792903	0.77399	0.63474244	0.78679	0.6637955	0.76103	0.5718023	0.75203	-7.866	0.60153	D	.	.	0.232	0.46516	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.762546	0.36239	20.2	0.99030006853180141	0.50786	0.91887	0.54478	D	AEFDBI	0.433632	0.49501	N	0.245728946061445	0.53428	3.511683	0.278389843584115	0.54280	3.593452	0.999289017433705	0.39007	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.58	2.89	0.32713	4.354000	0.59193	6.099000	0.53531	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.8342:0.0:0.1658:0.0	9.950	0.40804	884	0.28482	.;.;.;.;.;.;.	RP1-228P16.1	Spleen	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.734642	0.696970	0.716033	0.745614	0.450000	0.810345	0.768293	0.768939	0.7857	5938.36	31	chr12	47879112	.	A	G	5938.36	.	AC=11;AF=0.786;AN=14;BaseQRankSum=0.373;DP=289;ExcessHet=0;FS=1.663;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=24.85;ReadPosRankSum=-1.167;SOR=0.957	GT:AD:DP:GQ:PL	1/1:0,31:31:93:958,93,0	1	5	1	0
chr12	57751081	57751081	G	A	exonic	CDK4	.	nonsynonymous SNV	CDK4:NM_000075:exon4:c.C364T:p.R122C	.	.	.	.	.	.	.	.	.	.	.	137613	Familial_melanoma|not_provided|not_specified|Melanoma,_cutaneous_malignant,_susceptibility_to,_3|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0018961,MedGen:C1512419,Orphanet:618|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012183,MedGen:C1836892,OMIM:609048,Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.210	0.00959958098929	.	.	2.471e-05	0	8.637e-05	0	0	1.498e-05	0	6.056e-05	1.94e-05	3	154602	rs587778185	9.577e-06	9.577e-06	9.529e-06	9.625e-06	4.637e-05	5.56e-06	4.35e-06	1.583e-05	9.3e-06	0	2.236e-05	0	0	0	0	8.093e-06	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.39097	T	0.123	0.37173	T	0.995	0.67487	D	0.708	0.54437	P	0.008063	0.31035	N	0.299629	1	0.81001	D	1.27	0.32069	L	0.85	0.47130	T	-4.52	0.78302	D	0.195	0.21449	-0.9638	0.38448	T	0.133	0.44484	T	10	0.37228715	0.53567	T	0.010	0.25107	T	0.210	0.50028	0.513	0.61153	0.730243032302	0.72784	0.6726061321920708	0.67198	0.868071758153	0.69291	0.430020272732	0.29211	T	0.532776	0.83861	D	-0.220582	0.17912	T	-0.373099	0.36526	T	0.654237449169159	0.38645	D	0.29727	0.44919	T	0.3747842	0.58936	0.392544	0.63997	0.3747842	0.58936	0.392544	0.63997	-5.676	0.43479	T	.	.	0.147	0.41449	B	.;.;.;.;.;.	.;.;.;.;.;.	4.238708	0.64244	24.7	0.99843525702029123	0.92403	0.43091	0.27022	N	AEFDGBHCI	0.415635	0.48441	N	0.0501565170874673	0.44150	2.694322	-0.0371729555417621	0.38051	2.236328	0.999999975246217	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	4.76	1.31	0.20837	0.439000	0.21293	4.736000	0.44580	0.676000	0.76740	0.148000	0.23625	1.000000	0.68203	0.994000	0.71098	0.2204:0.0:0.54:0.2396	4.579	0.11642	174	0.93268	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|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	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1123.44	111	chr12	57751081	.	G	A	1123.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.775;DP=315;ExcessHet=0;FS=1.518;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.44;SOR=0.856	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1134,0,1497	6	0	1	0
chr12	70353913	70353913	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1622dupA:p.X541delinsX,CNOT2:NM_014515:exon16:c.1622dupA:p.X541delinsX,CNOT2:NM_001199302:exon17:c.1622dupA:p.X541delinsX	.	.	.	.	.	.	.	.	.	.	.	3863882	not_specified|Intellectual_developmental_disorder_with_nasal_speech,_dysmorphic_facies,_and_variable_skeletal_anomalies	MedGen:CN169374|MONDO:MONDO:0032832,MedGen:C5231426,OMIM:618608	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5036	.	0.0016	0	0	0.0006	0.0211	0.0006	0.0029	0.0003	0.0020246	313	154602	rs751341232	0.1382	0.1516	0.1407	0.1355	0.1436	0.1376	0.1374	0.1430	0.1427	0.0908	0.1159	0.1155	0.1150	0.0887	0.1320	0.1436	0.1351	0.1247	0.2431	0.2567	0.2484	0.2366	0.2839	0.2401	0.2389	0.2795	0.2777	0.1744	0.2612	0.1891	0.3065	0.2514	0.1421	0.3182	0.2839	0.2272	0.2056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	259.95	7	chr12	70353913	.	T	TA	259.95	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.524;DP=181;ExcessHet=3.1439;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=-0.303;SOR=0.892	GT:AD:DP:GQ:PL	0/1:2,3:7:37:38,0,37	3	0	2	2
chr12	76346369	76346369	G	A	exonic	BBS10	.	nonsynonymous SNV	BBS10:NM_024685:exon2:c.C1616T:p.P539L	Bardet-Biedl syndrome 10, Autosomal recessive	4	1146	322	50	0	422	0.15549	.	.	.	177141	Bardet-Biedl_syndrome|not_specified|not_provided|Bardet-Biedl_syndrome_10	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	.	0.0551	0.0335463	0.0647	0.0125	0.0371	0.0001	0.0635	0.0792	0.0762	0.0918	0.0598699	9256	154602	rs35676114	0.0746	0.0746	0.0731	0.0761	0.1413	0.0742	0.0741	0.1333	0.1300	0.0125	0.0384	0.0794	0.0005	0.0596	0.1413	0.0791	0.0763	0.0957	0.0555	0.0556	0.0554	0.0557	0.0914	0.0545	0.0541	0.0844	0.0816	0.0144	0.0757	0.0501	0.0801	0.0004	0.0662	0.1156	0.0799	0.0602	0.0914	0.453	0.08917	T	0.369	0.16522	T	0.001	0.07471	B	0.0	0.01387	B	0.787526	0.09423	N	0.883658	1	0.08975	N	0.03	0.08032	N	-1.87	0.84415	D	-1.63	0.39119	N	0.033	0.00882	-0.9391	0.42759	T	0.062	0.25923	T	10	0.0018639565	0.00025	T	.	.	.	0.124	0.34239	.	.	.	.	0.2679530290946429	0.26708	0.0586897436536	0.06515	0.213595598936	0.00973	T	0.322653	0.69364	T	-0.575935	0.00204	T	-0.528887	0.19398	T	0.00279913554226781	0.00029	T	0.450755	0.12737	T	0.025135	0.01417	0.038665097	0.03786	0.0298414	0.02545	0.040621962	0.04432	-3.808	0.20924	T	0.09762239229038064	0.06889	0.08	0.07793	B	.;.	.;.	-0.019470	0.04151	0.994	0.61837539723277835	0.06809	0.05604	0.11509	N	AEFDBCIJ	0.043003	0.06745	N	-0.895660138183266	0.10945	0.5256198	-0.942612549275817	0.11094	0.5631424	0.999917383432791	0.45857	0.706298	0.61202	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.95	0.792	0.17769	0.305000	0.19006	1.034000	0.23503	0.676000	0.76740	0.000000	0.06391	0.338000	0.24408	0.027000	0.12703	0.4803:0.0:0.5197:0.0	8.240	0.30816	953	0.10115	.;.	BBS10|BBS10|BBS10|OSBPL8	Cells_Cultured_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs35676114	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.123867	0.070707	0.126359	0.160819	0.050000	0.137931	0.131098	0.128788	0.1429	2087.22	68	chr12	76346369	.	G	A	2087.22	.	AC=2;AF=0.143;AN=14;DP=249;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.69;SOR=0.752	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2108,204,0	6	1	0	0
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L,HNF1A:NM_001306179:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	2	270	714	536	0	1786	0.767842	.	.	YES	134680	not_provided|Maturity-onset_diabetes_of_the_young_type_3|not_specified|Type_2_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,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	0	1	0.600505	0.586735	0.589674	0.664706	0.400000	0.646552	0.592025	0.595420	0.5833	5498.25	41	chr12	120978819	.	C	G	5498.25	.	AC=7;AF=0.583;AN=12;BaseQRankSum=0.436;DP=401;ExcessHet=0.7136;FS=0.388;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.066;SOR=0.677	GT:AD:DP:GQ:PL	0/1:25,16:41:99:399,0,595	1	2	3	1
chr12	120994314	120994314	G	C	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon4:c.G864C:p.G288G,HNF1A:NM_001306179:exon4:c.G864C:p.G288G	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	960	485	76	0	637	0.24912	.	.	YES	134682	Type_2_diabetes_mellitus|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	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|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	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	0	1	0.253030	0.277778	0.309783	0.222222	0.250000	0.206897	0.212963	0.162879	0.2143	2840.81	87	chr12	120994314	.	G	C	2840.81	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.57;DP=490;ExcessHet=1.1394;FS=0.828;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=-0.442;SOR=0.639	GT:AD:DP:GQ:PL	0/1:50,37:87:99:705,0,1221	4	0	3	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	Maturity_onset_diabetes_mellitus_in_young|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Type_2_diabetes_mellitus|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	10290.5	99	chr12	120997672	.	G	A	10290.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.119;DP=595;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=20.75;ReadPosRankSum=0.472;SOR=0.682	GT:AD:DP:GQ:PL	0/1:45,54:99:99:1306,0,1008	3	2	2	0
chr12	120999311	120999311	G	A	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon8:c.G1545A:p.T515T,HNF1A:NM_001306179: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	not_provided|Maturity-onset_diabetes_of_the_young_type_3|Insulin-resistant_diabetes_mellitus|not_specified|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|Human_Phenotype_Ontology:HP:0000831,MedGen:C0854110|MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	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	0	1	0.159617	0.151515	0.210598	0.128655	0.150000	0.129310	0.155488	0.117424	0.1429	3236.25	132	chr12	120999311	.	G	A	3236.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.48;DP=446;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.092;SOR=0.706	GT:AD:DP:GQ:PL	0/1:75,57:132:99:1450,0,1662	5	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	1198.0	19	chr12	132730334	.	CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	C	1198.0	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.05;DP=145;ExcessHet=2.5225;FS=0.929;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.496;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,8:19:99:0|1:132730334_CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT_C:303,0,438:132730334	3	0	4	0
chr13	100368479	100368479	G	T	exonic	PCCA	.	nonsynonymous SNV	PCCA:NM_001352608:exon17:c.G1429T:p.V477F,PCCA:NM_001352612:exon17:c.G562T:p.V188F,PCCA:NM_001127692:exon18:c.G1573T:p.V525F,PCCA:NM_001352606:exon18:c.G1507T:p.V503F,PCCA:NM_001352607:exon18:c.G1573T:p.V525F,PCCA:NM_001352610:exon18:c.G706T:p.V236F,PCCA:NM_001352611:exon18:c.G706T:p.V236F,PCCA:NM_000282:exon19:c.G1651T:p.V551F,PCCA:NM_001178004:exon19:c.G1651T:p.V551F,PCCA:NM_001352605:exon19:c.G1651T:p.V551F,PCCA:NM_001352609:exon19:c.G1651T:p.V551F	Propionicacidemia, Autosomal recessive	35	1422	60	5	0	70	0.024022	.	.	.	47470	Propionic_acidemia|not_provided|not_specified	Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0061	0.00279553	0.0077	0.0020	0.0058	0.0001	0.0020	0.0106	0.0099	0.0070	0.007846	1213	154602	rs61749895	0.0088	0.0091	0.0087	0.0090	0.0362	0.0087	0.0086	0.0322	0.0306	0.0020	0.0081	0.0100	0	0.0027	0.0362	0.0096	0.0098	0.0068	0.0070	0.0070	0.0066	0.0074	0.0128	0.0066	0.0065	0.0113	0.0107	0.0019	0	0.0128	0.0110	0	0.0023	0.0411	0.0096	0.0157	0.0054	0.51	0.50676	T	0.706	0.54541	T	0.072	0.23997	B	0.059	0.26602	B	0.000666	0.42516	D	0.092028	0.999897	0.19781	N	1.245	0.31408	L	-1.19	0.78427	T	-1.24	0.41428	N	0.253	0.29313	-0.9538	0.40310	T	0.166	0.50486	T	10	0.0050973594	0.00110	T	.	.	.	0.495	0.78036	.	.	0.237489013734	0.23353	0.5414792096076211	0.54072	0.18749610879	0.21068	0.274469137192	0.06733	T	0.405477	0.76164	T	-0.220797	0.17884	T	-0.0795484	0.64938	T	0.002613999720297	0.00027	T	0.686231	0.31753	T	0.10194706	0.24085	0.08496319	0.19583	0.09695565	0.22845	0.07956249	0.17920	-3.107	0.13455	T	0.09290950936720156	0.06056	0.096	0.15385	B	.;.;.;.	.;.;.;.	0.493760	0.08630	5.399	0.58896346874019345	0.06098	0.25735	0.22787	N	AEFGBI	0.246318	0.36709	N	-1.39697904296976	0.02667	0.1180743	-1.37944493398146	0.03472	0.1620144	0.93334498371539	0.27125	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	-1.81	0.07456	-0.163000	0.09986	-0.136000	0.11567	-0.678000	0.04252	0.706000	0.28683	0.000000	0.08366	0.310000	0.24737	0.2295:0.0:0.7705:0.0	13.543	0.61143	892	0.26670	.;.;.;.	.	.	.	.	.	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	0.023162	0.015152	0.031250	0.035088	0.050000	0.008621	0.015244	0.007576	0.07143	304.63	38	chr13	100368479	.	G	T	304.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.969;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-1.701;SOR=0.636	GT:AD:DP:GQ:PL	0/1:22,16:38:99:315,0,597	6	0	1	0
chr13	113118845	113118845	G	A	exonic	F7	.	nonsynonymous SNV	F7:NM_001267554:exon6:c.G986A:p.R329Q,F7:NM_019616:exon8:c.G1172A:p.R391Q,F7:NM_000131:exon9:c.G1238A:p.R413Q	Factor VII deficiency, Autosomal recessive	0	910	520	92	0	704	0.278922	.	.	YES	27119	not_provided|not_specified|Factor_VII_deficiency|Myocardial_infarction,_decreased_susceptibility_to|Factor_X_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0002244,MeSH:D005168,MedGen:C0015503|.|MONDO:MONDO:0002247,MeSH:D005171,MedGen:C0015519	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	.	0.11	0.138379	0.1341	0.1259	0.1018	0.0533	0.0751	0.1210	0.1437	0.2757	0.125995	19479	154602	rs6046	0.1165	0.1164	0.1107	0.1223	0.2761	0.1160	0.1158	0.2732	0.2720	0.1225	0.1074	0.1911	0.0599	0.0736	0.2135	0.1056	0.1239	0.2761	0.1163	0.1164	0.1162	0.1165	0.2740	0.1149	0.1143	0.2618	0.2568	0.1210	0.1725	0.1158	0.2056	0.0477	0.0697	0.1803	0.1088	0.1317	0.2740	0.228	0.26519	T	0.165	0.30926	T	0.254	0.32525	B	0.005	0.13708	B	0.521729	0.11734	N	0.744753	1	0.08975	P	0.615	0.15706	N	-1.51	0.81399	D	-1.16	0.29727	N	0.085	0.06190	-1.1082	0.03229	T	0.005	0.01688	T	9	0.003981173	0.00077	T	.	.	.	0.188	0.46444	.	.	.	.	0.4174972918572176	0.41665	0.218615771125	0.24401	0.259455680847	0.04827	T	0.414242	0.76786	T	-0.531236	0.00378	T	-0.39204	0.34312	T	0.0032045131440866	0.00034	T	0.60024	0.22396	T	0.28302434	0.51337	0.20696844	0.44935	0.22008178	0.44555	0.15338038	0.36043	-4.203	0.26795	T	0.14956450594880755	0.17500	0.070	0.05060	B	.;.;.	.;.;.	0.864100	0.12365	8.904	0.9372641218980059	0.23653	0.01261	0.04425	N	AEFDBI	0.454247	0.50704	N	-1.30176004106169	0.03655	0.1636765	-1.42064976557785	0.03046	0.1413473	0.992292572482251	0.32788	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.11	-4.6	0.03148	-0.090000	0.11129	-0.358000	0.09695	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.5017:0.0:0.3766:0.1217	5.957	0.18512	988	0.01987	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	F7|F7|F10|F10|F10|F7|F7|F7|F7|F7|F7|F7|F10|F7|F10|F7|F7|F10|F7|F10|F7|F7|F10|F7|F7|F10|F10|F7|F10|F7|F7|F10|F7|F7|F7|F7|F7|F7|F10	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Thyroid	MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L	Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	rs6046	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.189325	0.080808	0.174387	0.211765	0.100000	0.215517	0.189024	0.238636	0.3571	9626.11	126	chr13	113118845	.	G	A	9626.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.82;DP=923;ExcessHet=4.7409;FS=0;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.073;SOR=0.725	GT:AD:DP:GQ:PL	0/1:71,55:126:99:1301,0,1583	2	0	5	0
chr14	23389063	23389063	G	-	intronic	MYH6	.	.	.	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	.	.	.	.	.	.	.	.	.	.	45290	Hypertrophic_cardiomyopathy_2|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy_14|Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|MedGen:CN239310|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4104	0.6267	0.3795	0.4432	0.3604	0.3688	0.3815	0.4476	0.0001537	4	26028	rs1064795889	0.3084	0.3121	0.3093	0.3074	0.6162	0.3074	0.3071	0.6088	0.6057	0.6162	0.2497	0.2666	0.2601	0.2543	0.3139	0.2981	0.3229	0.3503	0.3533	0.3351	0.3610	0.3452	0.6120	0.3504	0.3492	0.6055	0.6028	0.6120	0.3180	0.2356	0.2344	0.1573	0.1787	0.2645	0.2170	0.3369	0.3167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2785.65	53	chr14	23389062	.	AG	A	2785.65	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.77;DP=271;ExcessHet=0.1336;FS=9.963;MLEAC=2;MLEAF=0.167;MQ=59.97;MQRankSum=0;QD=24.01;ReadPosRankSum=0.485;SOR=1.249	GT:AD:DP:GQ:PL	1/0:0,24:53:99:1635,818,673	4	0	2	1
chr14	23419114	23419114	-	G	intronic	MYH7	.	.	.	Cardiomyopathy, dilated, 1S, Autosomal dominant;Cardiomyopathy, hypertrophic, 1, Autosomal dominant;Laing distal myopathy, Autosomal dominant;Left ventricular noncompaction 5, Autosomal dominant;Myopathy, myosin storage, autosomal dominant, Autosomal dominant;Myopathy, myosin storage, autosomal recessive, Autosomal recessive;Scapuloperoneal syndrome, myopathic type, Autosomal dominant	26	775	566	155	0	876	0.361088	.	.	.	45302	not_provided|Primary_familial_hypertrophic_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.337061	.	.	.	.	.	.	.	.	0.0472115	7299	154602	rs34598192	0.3369	0.3402	0.3403	0.3337	0.6339	0.3361	0.3357	0.6261	0.6230	0.6339	0.1960	0.3975	0.0549	0.2711	0.3041	0.3586	0.3420	0.2235	0.4076	0.4081	0.4199	0.3948	0.6311	0.4049	0.4038	0.6247	0.6221	0.6311	0.4068	0.2827	0.3834	0.0797	0.2623	0.3103	0.3624	0.4006	0.2148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2138.4	63	chr14	23419114	.	T	TG	2138.4	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.12;DP=277;ExcessHet=0.3476;FS=1.439;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=1.05;SOR=0.848	GT:AD:DP:GQ:PL	0/1:33,30:63:99:1022,0,1145	5	0	2	0
chr14	45136202	45136202	G	C	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon1:c.G171C:p.L57F,FANCM:NM_001308134:exon1:c.G171C:p.L57F,FANCM:NM_020937:exon1:c.G171C:p.L57F	.	0	1516	6	0	0	6	0.00197498	.	.	.	320542	Fanconi_anemia|Spermatogenic_failure_28|Premature_ovarian_failure_15|FANCM-related_disorder|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	0.00606018896748	0.0018	0.000399361	0.0016	0.0004	0.0004	0	0.0005	0.0025	0.0033	0.0008	0.0017076	264	154602	rs142007602	0.0024	0.0024	0.0024	0.0025	0.0029	0.0024	0.0023	0.0028	0.0028	0.0006	0.0010	0.0014	0	0.0007	0.0009	0.0029	0.0024	0.0010	0.0015	0.0015	0.0016	0.0015	0.0027	0.0014	0.0013	0.0024	0.0023	0.0005	0	0.0009	0.0032	0	0.0004	0	0.0027	0.0005	0.0006	0.048	0.40068	D	0.168	0.42976	T	0.026	0.24389	B	0.022	0.21939	B	0.032070	0.25080	N	0.294885	0.752312	0.33943	D	2.34	0.67151	M	2.58	0.13916	T	-2.48	0.54059	N	0.151	0.22486	-1.0821	0.06946	T	0.033	0.14117	T	10	0.010391653	0.00231	T	0.00606	0.15846	T	0.064	0.18567	0.465	0.53566	0.450152462452	0.44640	0.33167879403635986	0.33080	0.109337524117	0.12337	0.634920537472	0.57843	T	0.154481	0.49579	T	-0.490588	0.00645	T	-0.473747	0.25114	T	0.0620598967691673	0.07490	T	0.835416	0.50550	T	0.11937108	0.28109	0.16322358	0.37875	0.1304708	0.30441	0.21647355	0.46276	-6.105	0.48904	T	.	.	0.095	0.45061	B	.;.;.	.;.;.	2.370992	0.30420	18.43	0.99102636245465514	0.52521	0.62210	0.31713	D	ALL	0.227833	0.35159	N	-0.469880570957647	0.23071	1.236403	-0.399328345478878	0.25018	1.373323	0.99999999988759	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.1	1.07	0.19399	2.894000	0.48339	1.613000	0.27646	-0.254000	0.07082	1.000000	0.71638	0.999000	0.35428	0.940000	0.48062	0.165:0.0:0.5168:0.3182	5.135	0.14264	799	0.44747	.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1215.44	89	chr14	45136202	.	G	C	1215.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.951;DP=270;ExcessHet=0;FS=2.799;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.65;SOR=0.588	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1226,0,936	6	0	1	0
chr14	66681128	66681128	A	G	exonic	GPHN	.	nonsynonymous SNV	GPHN:NM_001024218:exon2:c.A86G:p.N29S,GPHN:NM_001377514:exon2:c.A86G:p.N29S,GPHN:NM_001377515:exon2:c.A86G:p.N29S,GPHN:NM_001377516:exon2:c.A86G:p.N29S,GPHN:NM_001377517:exon2:c.A86G:p.N29S,GPHN:NM_001377518:exon2:c.A86G:p.N29S,GPHN:NM_001377519:exon2:c.A86G:p.N29S,GPHN:NM_020806:exon2:c.A86G:p.N29S	Molybdenum cofactor deficiency C	21	1498	2	1	0	4	0.00133333	.	.	.	528323	Inborn_genetic_diseases|Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_C|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014212,MedGen:C1854990,OMIM:615501,Orphanet:308400,Orphanet:833|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.353	0.0526138235332	7.7e-05	.	9.139e-05	0	0.0003	0	0	0.0001	0	6.078e-05	7.12e-05	11	154602	rs144247888	6.097e-05	6.362e-05	6.077e-05	6.116e-05	0.0006	5.024e-05	4.685e-05	0.0002	8.479e-05	3.045e-05	8.952e-05	0	2.533e-05	0	0.0006	6.109e-05	0.0002	3.496e-05	6.574e-05	6.568e-05	7.711e-05	5.383e-05	0.0001	3.518e-05	2.617e-05	6.807e-05	5.089e-05	2.414e-05	0	0	0	0	0	0	0.0001	0	0	0.184	0.43085	T	0.465	0.36365	T	0.248	0.53072	B	0.438	0.64047	B	0.000000	0.84330	D	0.000000	0.999273	0.81001	D	0.4	0.12274	N	-1.02	0.76300	T	-1.35	0.39119	N	0.793	0.80180	-0.3669	0.73056	T	0.367	0.72712	T	10	0.61218137	0.67506	D	0.052614	0.65141	D	0.353	0.67418	.	.	0.72538121087	0.72295	0.49290651260588103	0.49211	1.38065135197	0.84769	0.775062918663	0.78184	T	0.490282	0.81514	T	-0.206582	0.19863	T	-0.308815	0.43785	T	0.316590964794159	0.25683	T	0.932107	0.76420	D	0.32512578	0.55069	0.23285916	0.48458	0.32512578	0.55069	0.23285916	0.48457	-7.077	0.54595	T	0.15152657662892952	0.17883	0.166	0.54146	B	.;.;.;.	.;.;.;.	4.774765	0.77330	26.7	0.99138770012916644	0.53464	0.96558	0.69741	D	AEFBI	0.894378	0.83329	D	0.237224559343401	0.53010	3.472004	0.365614382876398	0.59453	4.123351	0.95762640559479	0.28315	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	8.587000	0.90596	11.061000	0.85440	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.835	0.57152	510	0.75209	MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain;.;MoaB/Mog domain|MoaB/Mog domain;MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	283.27	21	chr14	66681128	.	A	G	283.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.783;DP=120;ExcessHet=0;FS=7.025;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-1.553;SOR=1.718	GT:AD:DP:GQ:PL	0/1:10,11:21:99:293,0,247	5	0	1	1
chr14	88853015	88853015	G	A	exonic	TTC8	.	synonymous SNV	TTC8:NM_001366536:exon6:c.G549A:p.K183K,TTC8:NM_001288782:exon7:c.G75A:p.K25K,TTC8:NM_001366535:exon7:c.G639A:p.K213K,TTC8:NM_198310:exon7:c.G549A:p.K183K,TTC8:NM_144596:exon8:c.G669A:p.K223K,TTC8:NM_198309:exon8:c.G639A:p.K213K,TTC8:NM_001288781:exon9:c.G717A:p.K239K	Bardet-Biedl syndrome 8, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	255110	Bardet-Biedl_syndrome_8|not_specified|Retinitis_pigmentosa|Bardet-Biedl_syndrome|not_provided	MONDO:MONDO:0014436,MedGen:C1859566,OMIM:615985,Orphanet:110|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.071	.	0.0005	0.000998403	0.0009	9.626e-05	0.0003	0	0.0003	0.0007	0	0.0035	0.0007956	123	154602	rs141304350	0.0006	0.0006	0.0005	0.0007	0.0042	0.0006	0.0006	0.0039	0.0037	8.969e-05	4.475e-05	0.0007	0	0.0003	0.0014	0.0004	0.0005	0.0042	0.0003	0.0003	0.0004	0.0003	0.0025	0.0003	0.0002	0.0014	0.0011	2.405e-05	0	0.0001	0.0006	0	0.0002	0	0.0005	0.0005	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	462.44	47	chr14	88853015	.	G	A	462.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.26;DP=225;ExcessHet=0;FS=1.128;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-0.23;SOR=0.518	GT:AD:DP:GQ:PL	0/1:29,18:47:99:473,0,679	6	0	1	0
chr14	104707715	104707715	C	T	exonic	INF2	.	nonsynonymous SNV	INF2:NM_001031714:exon8:c.C1448T:p.S483F,INF2:NM_022489:exon8:c.C1448T:p.S483F	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	.	.	.	.	.	.	.	.	.	505344	INF2-related_disorder|Focal_segmental_glomerulosclerosis_5|Charcot-Marie-Tooth_disease_dominant_intermediate_E|not_provided	.|MONDO:MONDO:0013191,MedGen:C2750475,OMIM:613237,Orphanet:656|MONDO:MONDO:0013758,MedGen:C4302667,OMIM:614455,Orphanet:93114|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	0.398930579461	.	.	0.0002	0	0	0	0	0.0003	0	0.0002	1.29e-05	2	154602	rs753188664	0.0001	0.0001	0.0001	0.0001	0.0036	0.0001	0.0001	0.0021	0.0017	3.794e-05	0.0009	0	8.812e-05	0	0.0036	8.195e-05	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0.0005	8.215e-05	6.807e-05	8.356e-05	3.487e-05	8.075e-05	0	0.0002	0	0	0	0.0154	4.689e-05	0.0015	0.0005	0.039	0.43393	D	0.128	0.34959	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	-1.37	0.80301	T	-0.16	0.09460	N	0.148	0.15046	-0.9093	0.46940	T	0.237	0.60379	T	9	0.020722717	0.00482	T	0.398931	0.93354	D	0.107	0.30369	.	.	0.102598925029	0.09809	0.03958585762132977	0.03904	0.270303575424	0.29553	0.640102207661	0.58579	T	0.023666	0.18025	T	-0.472327	0.00822	T	-0.501682	0.22173	T	0.00459116373822256	0.00049	T	0.435556	0.11926	T	0.03905909	0.05321	0.047990028	0.07034	0.044147555	0.07007	0.04406177	0.05623	-4.208	0.27768	T	0.1483932970694452	0.17273	0.094	0.14979	B	.;.	.;.	0.679840	0.10482	7.199	0.93778540709419633	0.23735	0.00605	0.02694	N	AEFDBCI	0.032790	0.03771	N	-1.3528552649815	0.03095	0.137735	-1.43255250960402	0.02932	0.1358124	0.999972096036013	0.50053	0.660377	0.49826	0	0.550933	0.16991	0	0.723109	0.80598	0	0.592323	0.36904	0	.	.	3.18	-2.61	0.05811	-0.752000	0.04902	-0.850000	0.07182	-0.367000	0.05470	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2715:0.1569:0.5717	5.152	0.14341	957	0.09725	.;.	.	.	.	.	.	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	0.012270	0.007353	0.023585	0.010714	0.000000	0.040541	0.000000	0.005556	0.07143	289.93	12	chr14	104707715	.	C	T	289.93	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.014;DP=85;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.16;ReadPosRankSum=1.45;SOR=0.495	GT:AD:DP:GQ:PL	0/1:1,11:12:5:300,0,5	6	0	1	0
chr15	34791307	34791307	-	CA	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322315	Left_ventricular_noncompaction_cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_restrictive_cardiomyopathy|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided|Atrial_septal_defect	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210,Orphanet:217635|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:CN239310|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020747	54	26028	rs767357797	0.0537	0.0905	0.0502	0.0571	0.0877	0.0533	0.0532	0.0859	0.0852	0.0708	0.0676	0.0639	0.0823	0.0800	0.0619	0.0460	0.0657	0.0877	0.1194	0.1243	0.1202	0.1185	0.1444	0.1179	0.1173	0.1412	0.1399	0.1444	0.0293	0.0882	0.0608	0.1144	0.1094	0.0899	0.1172	0.1079	0.1395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7634.8	29	chr15	34791307	.	T	TCA	7634.8	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.58;DP=701;ExcessHet=2.5225;FS=3.743;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=21.21;ReadPosRankSum=0.754;SOR=0.94	GT:AD:DP:GQ:PL	1/0:1,5:29:66:1075,584,523	4	0	3	0
chr15	48432924	48432924	T	G	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon55:c.A6681C:p.S2227S	Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant	0	1504	16	2	0	20	0.00660502	.	.	YES	51578	not_provided|Geleophysic_dysplasia|Weill-Marchesani_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Marfan_syndrome|Acromicric_dysplasia|Stiff_skin_syndrome|Ectopia_lentis_1,_isolated,_autosomal_dominant|not_specified	MedGen:C3661900|MONDO:MONDO:0000127,MedGen:C3489726,OMIM:PS231050,Orphanet:2623|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orphanet:969|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,Orphanet:2833|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orphanet:1885|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0010	0.000798722	0.0011	0.0005	0.0011	0	0.0006	0.0015	0	0.0010	0.0010543	163	154602	rs363824	0.0009	0.0009	0.0008	0.0009	0.0187	0.0008	0.0008	0.0159	0.0148	0.0008	0.0011	0.0030	0	0.0008	0.0187	0.0006	0.0017	0.0015	0.0012	0.0012	0.0011	0.0013	0.0019	0.0010	0.0010	0.0010	0.0009	0.0006	0	0.0014	0.0043	0	0.0011	0.0238	0.0011	0.0052	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.012085	0.000000	0.019022	0.026316	0.000000	0.000000	0.003049	0.003788	0.07143	1258.44	103	chr15	48432924	.	T	G	1258.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=286;ExcessHet=0;FS=1.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.112;SOR=0.821	GT:AD:DP:GQ:PL	0/1:51,52:103:99:1269,0,1097	6	0	1	0
chr15	59256276	59256276	C	T	intronic	MYO1E	.	.	.	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	26	0	7	1489	0	2985	1	0	0	.	971023	not_specified|not_provided|Focal_segmental_glomerulosclerosis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9775	0.97504	0.9939	0.9331	0.9973	1	1	0.9998	0.9967	0.9999	0.950408	146935	154602	rs4508371	0.9981	0.9980	0.9978	0.9983	1.0000	0.9967	0.9961	0.9983	0.9976	0.9313	0.9973	1.0000	1.0000	1.0000	0.9970	0.9999	0.9960	0.9999	0.9812	0.9812	0.9812	0.9813	1.0000	0.9771	0.9753	0.9934	0.9908	0.9344	1.0000	0.9945	1.0000	1.0000	1.0000	0.9864	0.9997	0.9887	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	16186.6	59	chr15	59256276	.	C	T	16186.6	.	AC=14;AF=1;AN=14;BaseQRankSum=2.23;DP=606;ExcessHet=0;FS=0;MLEAC=14;MLEAF=1;MQ=60;MQRankSum=0;QD=27.34;ReadPosRankSum=1.07;SOR=0.309	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1679,177,0	0	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	648.83	5	chr15	68207979	.	GACAC	G	648.83	.	AC=5;AF=0.5;AN=10;BaseQRankSum=1.04;DP=23;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=32.44;ReadPosRankSum=-1.645;SOR=1.501	GT:AD:DP:GQ:PL	1/1:0,5:5:15:225,15,0	2	2	1	2
chr15	78513681	78513681	T	C	intronic	HYKK	.	.	.	.	1079	356	30	57	0	144	0.168224	.	.	YES	3495312	Chronic_obstructive_pulmonary_disease	Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	0.188898	.	.	.	.	.	.	.	.	0.275434	7169	26028	rs8034191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2722	0.2723	0.2756	0.2686	0.3510	0.2700	0.2691	0.3473	0.3458	0.1664	0.4068	0.2323	0.3453	0.0289	0.3321	0.4150	0.3510	0.2875	0.2353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	146.01	2	chr15	78513681	.	T	C	146.01	.	AC=3;AF=0.375;AN=8;BaseQRankSum=1.15;DP=8;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=24.34;ReadPosRankSum=1.15;SOR=0.368	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	1	1	3
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	not_provided|Weill-Marchesani_4_syndrome,_recessive	MedGen:C3661900|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195,Orphanet:363992	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	357.25	4	chr15	99973382	.	CTGGGCT	C	357.25	.	AC=6;AF=1;AN=6;DP=14;ExcessHet=0;FS=0;MLEAC=7;MLEAF=1;MQ=60;QD=30.23;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0	0	3	0	4
chr16	2298532	2298532	G	A	exonic	ABCA3	.	nonsynonymous SNV	ABCA3:NM_001089:exon15:c.C1750T:p.P584S	Surfactant metabolism dysfunction, pulmonary, 3, Autosomal recessive	4	1505	13	0	0	13	0.00430036	.	.	.	334209	Interstitial_lung_disease_due_to_ABCA3_deficiency|not_provided	MONDO:MONDO:0012582,MedGen:C1970456,OMIM:610921,Orphanet:440402|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.457	0.175679297751	.	0.000599042	0.0004	0	0	0	0	0.0001	0.0033	0.0019	0.000304	47	154602	rs552751331	0.0002	0.0002	0.0001	0.0002	0.0043	0.0002	0.0002	0.0030	0.0025	0	0	0	0	0	0.0043	7.194e-06	0.0003	0.0024	0.0002	0.0002	7.709e-05	0.0002	0.0046	0.0001	9.233e-05	0.0031	0.0026	2.406e-05	0	0	0	0	0	0	0	0.0005	0.0046	0.219	0.19710	T	0.171	0.32568	T	0.51	0.37313	P	0.491	0.47360	P	0.000026	0.55875	D	0.158011	0.995268	0.42614	D	0.065	0.08236	N	-3.18	0.93111	D	-5.39	0.85247	D	0.172	0.24135	0.058	0.83388	D	0.623	0.86738	D	10	0.021826655	0.00531	T	0.175679	0.85168	D	0.457	0.75551	0.371	0.38176	0.826080846998	0.82443	0.7753279826621574	0.77482	0.647531300315	0.58134	0.548421025276	0.45635	T	0.840464	0.96275	D	-0.20104	0.20656	T	-0.066794	0.65855	T	0.137538442050611	0.16061	T	0.893711	0.63166	D	0.19321193	0.41021	0.38244492	0.63230	0.18191598	0.39385	0.30364206	0.56393	-6.402	0.49525	T	0.4143687769581481	0.50416	0.112	0.26074	B	.;.	.;.	3.884201	0.56469	23.7	0.9557369231556192	0.27270	0.97000	0.72113	D	AEFDBI	0.552431	0.56410	D	-0.339378056154319	0.27664	1.519642	-0.253066599010928	0.29665	1.663895	0.0165522585230617	0.12845	0.732398	0.92422	0	0.670034	0.63936	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	6.17	5.21	0.72005	5.735000	0.68231	6.015000	0.52706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0714:0.0:0.7878:0.1408	9.97	0.40918	628	0.65206	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	729.53	50	chr16	2298532	.	G	A	729.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.18;DP=232;ExcessHet=0;FS=1.088;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.807;SOR=0.515	GT:AD:DP:GQ:PL	0/1:21,29:50:99:740,0,540	6	0	1	0
chr16	15725134	15725134	-	A	UTR3	NDE1	NM_001143979:c.*883_*884insA;NM_017668:c.*883_*884insA	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	324437	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs757597336	0.1707	0.1347	0.1695	0.1717	0.2049	0.1696	0.1691	0.2010	0.1994	0.1259	0.1616	0.1633	0.1415	0.1620	0.1554	0.1727	0.1654	0.2049	0.0641	0.0652	0.0636	0.0646	0.1044	0.0629	0.0625	0.1016	0.1005	0.1044	0.1014	0.0466	0.0431	0.0185	0.0385	0.0296	0.0487	0.0662	0.0833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	573.07	72	chr16	15725134	.	T	TA	573.07	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.847;DP=587;ExcessHet=8.2628;FS=0.602;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=0.861;SOR=0.754	GT:AD:DP:GQ:PL	0/1:59,9:72:24:24,0,1221	3	0	4	0
chr16	23445970	23445970	A	-	intronic	COG7	.	.	.	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	334369	not_provided|Congenital_disorder_of_glycosylation|COG7_congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3899	0.3803	0.3566	0.3682	0.4249	0.3932	0.3811	0.3995	0.0002587	40	154602	rs71379679	0.3540	0.3620	0.3514	0.3567	0.3851	0.3531	0.3528	0.3797	0.3774	0.3470	0.3424	0.3544	0.3851	0.3561	0.3445	0.3513	0.3570	0.3803	0.2121	0.2083	0.2079	0.2167	0.3049	0.2100	0.2092	0.2916	0.2862	0.2187	0.1708	0.1807	0.1672	0.3049	0.2926	0.1352	0.1984	0.2037	0.2610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	709.29	10	chr16	23445969	.	TA	T	709.29	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.553;DP=179;ExcessHet=11.5949;FS=2.736;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=6.82;ReadPosRankSum=0.092;SOR=1.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,3:10:62:.:.:62,0,88:.	0	0	6	1
chr16	53879999	53879999	-	T	intronic	FTO	.	.	.	Growth retardation, developmental delay, facial dysmorphism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	341809	not_provided|Lethal_polymalformative_syndrome,_Boissel_type	MedGen:C3661900|MONDO:MONDO:0013050,MedGen:C2752001,OMIM:612938,Orphanet:210144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1487	0.2590	0.1359	0.2046	0.1024	0.1160	0.1725	0.1852	0.0027663	72	26028	rs373705985	0.0908	0.1333	0.0916	0.0900	0.2164	0.0903	0.0901	0.2116	0.2096	0.2164	0.0581	0.1009	0.1318	0.0632	0.0817	0.0853	0.0992	0.1110	0.0470	0.0481	0.0465	0.0475	0.1392	0.0461	0.0457	0.1362	0.1349	0.1392	0	0.0200	0.0225	0.0702	0.0029	0.0252	0.0025	0.0444	0.0610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	184.74	12	chr16	53879999	.	C	CT	184.74	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.918;DP=205;ExcessHet=1.1394;FS=4.374;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.74;ReadPosRankSum=0.914;SOR=0.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,7:12:99:0|1:53879999_C_CT:144,0,151:53879999	5	0	1	1
chr16	56511263	56511263	T	C	exonic	BBS2	.	nonsynonymous SNV	BBS2:NM_001377456:exon3:c.A367G:p.I123V,BBS2:NM_031885:exon3:c.A367G:p.I123V	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive	7	1085	379	51	0	481	0.181441	.	.	YES	255825	Bardet-Biedl_syndrome|not_specified|Retinitis_pigmentosa_74|Bardet-Biedl_syndrome_1|not_provided|Bardet-Biedl_syndrome_2|Retinal_dystrophy	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MONDO:MONDO:0014692,MedGen:C4225281,OMIM:616562,Orphanet:791|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:C3661900|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.169	.	0.1954	0.263578	0.2092	0.2292	0.3062	0.4101	0.1777	0.1703	0.2080	0.1939	0.205702	31802	154602	rs11373	0.1869	0.1869	0.1878	0.1860	0.4109	0.1863	0.1861	0.4056	0.4034	0.2297	0.2862	0.2119	0.4109	0.1735	0.1505	0.1732	0.1982	0.1882	0.2072	0.2074	0.2067	0.2076	0.4000	0.2052	0.2045	0.3857	0.3798	0.2319	0.1020	0.2418	0.2044	0.4000	0.1837	0.1361	0.1761	0.2111	0.1922	0.562	0.06341	T	0.544	0.11829	T	.	.	.	.	.	.	0.006774	0.31811	N	0.376395	0.726341	0.29873	P	.	.	.	-1.58	0.81987	D	-0.24	0.11008	N	0.056	0.06454	-1.0141	0.25625	T	0.000	0.00011	T	9	0.0039009154	0.00074	T	.	.	.	0.169	0.43123	.	.	.	.	0.40657062324920235	0.40573	0.20816477634	0.23283	0.361940145493	0.19669	T	0.222663	0.58657	T	-0.576094	0.00204	T	-0.456476	0.26983	T	0.00215051843252122	0.00022	T	0.759724	0.38410	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00647	B	.;.	.;.	0.874631	0.12478	9.008	0.60179440470861367	0.06401	0.81298	0.40731	D	AEFBI	0.120463	0.23466	N	-0.808476354663507	0.13093	0.6426372	-0.64647875390651	0.18306	0.9772973	0.744928693620984	0.23270	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.9	0.542	0.16365	0.398000	0.20624	-0.822000	0.07291	0.654000	0.53741	0.997000	0.40164	0.001000	0.17328	0.854000	0.40426	0.0:0.3239:0.1315:0.5446	5.865	0.18019	453	0.79178	Ciliary BBSome complex subunit 2, N-terminal;.	OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT1E|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT4|OGFOD1|AMFR|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|OGFOD1	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	BBS2|NUDT21|BBS2|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2	Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Transverse|Heart_Left_Ventricle|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs11373	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.187311	0.237374	0.202446	0.140351	0.250000	0.172414	0.149390	0.200758	0.2857	2629.02	53	chr16	56511263	.	T	C	2629.02	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.206;DP=321;ExcessHet=0.0921;FS=2.752;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=0.076;SOR=0.57	GT:AD:DP:GQ:PL	0/1:17,36:53:99:900,0,409	4	1	2	0
chr16	89816740	89816740	-	GGCCTTGCGTCGT	upstream	FANCA	dist=93	.	.	Fanconi anemia, complementation group A, Autosomal recessive	50	1018	318	136	0	590	0.224676	.	.	.	208324	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.522963	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs11275235	0.2739	0.2644	0.2665	0.2809	0.9576	0.2728	0.2723	0.9471	0.9428	0.4104	0.4624	0.1766	0.9576	0.3603	0.2057	0.2121	0.3030	0.4074	0.3957	0.3973	0.3848	0.4071	0.9688	0.3931	0.3920	0.9463	0.9370	0.4731	0.2539	0.4650	0.1948	0.9688	0.3791	0.1747	0.3009	0.3658	0.4746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	367.95	7	chr16	89816740	.	A	AGGCCTTGCGTCGT	367.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.967;DP=41;ExcessHet=0.1336;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=0.608;SOR=1.942	GT:AD:DP:GQ:PL	0/1:5,2:7:54:54,0,204	3	1	2	1
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	388.93	57	chr17	3648932	.	G	C	388.93	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.681;DP=502;ExcessHet=6.1542;FS=343.065;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=0.438;SOR=9.139	GT:AD:DP:GQ:PL	0/1:36,21:57:70:70,0,555	1	0	5	1
chr17	17236983	17236983	G	A	UTR5	FLCN	NM_001353230:c.-8846C>T;NM_001353231:c.-8846C>T;NM_001353229:c.-8846C>T;NM_144997:c.-8846C>T;NM_144606:c.-8846C>T	.	.	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	1210	212	32	68	0	168	0.283784	.	.	.	343588	not_provided|Colorectal_cancer|Nonpapillary_renal_cell_carcinoma|Birt-Hogg-Dube_syndrome_1|Familial_spontaneous_pneumothorax|Birt-Hogg-Dube_syndrome|FLCN-related_disorder	MedGen:C3661900|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.428315	.	.	.	.	.	.	.	.	0.458737	11940	26028	rs1708629	0.5833	0.0231	0.6667	0.5333	0.5870	0.4146	0.3578	0.4143	0.3564	.	.	.	.	.	.	0.5870	0.5000	.	0.4523	0.4525	0.4452	0.4599	0.6252	0.4495	0.4483	0.6072	0.5999	0.1501	0.6897	0.5279	0.5265	0.6252	0.7318	0.3537	0.5601	0.4360	0.4094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	201.54	6	chr17	17236983	.	G	A	201.54	.	AC=4;AF=0.4;AN=10;DP=14;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=60;QD=25.19;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,6:6:18:169,18,0	3	2	0	2
chr17	18130817	18130817	-	GTGT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	337410	not_specified|not_provided|Hearing_loss,_autosomal_recessive	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019978	52	26028	rs1491181087	0.0480	0.0698	0.0458	0.0501	0.0574	0.0476	0.0475	0.0560	0.0554	0.0490	0.0555	0.0850	0.0446	0.0711	0.0508	0.0437	0.0644	0.0574	0.1711	0.1750	0.1760	0.1654	0.1878	0.1689	0.1680	0.1846	0.1832	0.1500	0.1468	0.1764	0.2774	0.0658	0.1265	0.2198	0.1878	0.1694	0.1291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3134.63	20	chr17	18130817	.	A	AGTGT	3134.63	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.39;DP=513;ExcessHet=0;FS=5.575;MLEAC=1;MLEAF=0.083;MQ=59.99;MQRankSum=0;QD=34.83;ReadPosRankSum=0.047;SOR=2.262	GT:AD:DP:GQ:PL	0/1:4,12:20:9:685,0,62	5	0	1	1
chr17	21300880	21300880	C	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon5:c.C199T:p.R67W,MAP2K3:NM_145109:exon5:c.C286T:p.R96W,MAP2K3:NM_001316332:exon6:c.C199T:p.R67W	.	430	38	1047	7	0	1061	0.933157	.	.	.	1770503	not_specified|MAP2K3-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.375	.	.	.	0.4998	0.4999	0.4997	0.4986	0.5	0.4999	0.5	0.4999	0.0238677	3690	154602	rs56216806	0.4983	0.4983	0.4982	0.4985	0.4998	0.4974	0.4970	0.4969	0.4964	0.4981	0.4998	0.4992	0.4996	0.4998	0.4996	0.4980	0.4987	0.4994	0.5000	0.5000	0.5000	0.5000	0.5000	0.4970	0.4958	0.4955	0.4937	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.0	0.91255	D	0.043	0.56640	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999999	0.58761	D	2.88	0.83451	M	-0.23	0.66652	T	-4.91	0.82141	D	0.699	0.70351	-0.9444	0.41911	T	0.000	0.00011	T	10	0.0043037534	0.00087	T	.	.	.	0.375	0.69358	.	.	.	.	0.7188625825101859	0.71829	0.606269731864	0.55478	0.820443630219	0.85095	D	0.403427	0.76018	T	0.346235	0.86252	D	0.259566	0.86071	D	0.0378888073466841	0.03313	T	0.914509	0.70203	D	0.8805352	0.89711	0.8318533	0.90306	0.8805352	0.89712	0.8318533	0.90306	-15.158	0.96694	D	.	.	0.905	0.83091	P	.;.;.;.;.	.;.;.;.;.	5.775915	0.93501	33	0.98723007320009115	0.45230	0.81548	0.40929	D	AEFGBCI	0.787610	0.71734	D	0.664275873630775	0.77296	6.647485	0.610880277044446	0.75730	6.36224	0.999999998268304	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.716000	0.61607	5.995000	0.52393	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1566:0.8434:0.0:0.0	13.451	0.60626	824	0.40336	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.497986	0.494949	0.501359	0.497076	0.500000	0.500000	0.493902	0.500000	0.5	21752.1	153	chr17	21300880	.	C	T	21752.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.14;DP=1325;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-0.235;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,78:153:99:0|1:21300875_G_T:3005,0,2748:21300875	0	0	7	0
chr17	41813055	41813055	C	T	exonic	FKBP10	.	synonymous SNV	FKBP10:NM_021939:exon1:c.C21T:p.P7P	Bruck syndrome 1, Autosomal recessive;Osteogenesis imperfecta, type XI, Autosomal recessive	8	1502	12	0	0	12	0.00397878	.	.	.	270858	Osteogenesis_imperfecta_type_11|not_provided	MONDO:MONDO:0012592,MedGen:C3151218,OMIM:610968,Orphanet:666|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0003	0	0	0.0004	0.0026	0.0004	0.0002523	39	154602	rs781985978	0.0002	0.0002	0.0002	0.0002	0.0085	0.0002	0.0002	0.0063	0.0055	0.0001	0.0002	0.0008	0	0	0.0085	0.0001	0.0004	0.0005	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.712e-05	0.0002	9e-05	7.214e-05	0	0	0.0009	0	0	0.0102	0.0002	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.010585	0.000000	0.013587	0.029240	0.000000	0.017241	0.000000	0.000000	0.08333	179.27	25	chr17	41813055	.	C	T	179.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.948;DP=181;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.17;ReadPosRankSum=2.07;SOR=0.569	GT:AD:DP:GQ:PL	0/1:17,8:25:99:189,0,436	5	0	1	1
chr17	59064407	59064407	-	A	splicing	TRIM37	NM_001320989:exon10:c.810-2->T;NM_001005207:exon10:c.810-2->T;NM_001353084:exon10:c.810-2->T;NM_001320990:exon11:c.444-2->T;NM_001320988:exon10:c.810-2->T;NM_001320987:exon9:c.708-2->T;NM_001353085:exon8:c.348-2->T;NM_015294:exon10:c.810-2->T;NM_001353082:exon9:c.708-2->T;NM_001353083:exon10:c.75-2->T	.	.	Mulibrey nanism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	339367	Mulibrey_nanism_syndrome|not_provided	MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0510	.	0.0711	0.0843	0.0487	0.0434	0.0477	0.0585	0.0689	0.1192	0.0001537	4	26028	rs1340781912	0.0887	0.1514	0.0883	0.0890	0.1224	0.0882	0.0880	0.1184	0.1168	0.1224	0.0849	0.1144	0.0708	0.0738	0.1174	0.0862	0.0943	0.1141	0.0253	0.0255	0.0249	0.0257	0.0429	0.0246	0.0243	0.0412	0.0405	0.0429	0.0011	0.0198	0.0360	0.0012	0.0312	0.0532	0.0160	0.0260	0.0359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	630.62	52	chr17	59064407	.	T	TA	630.62	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.012;DP=371;ExcessHet=0;FS=0.577;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.598;SOR=0.76	GT:AD:DP:GQ:PL	0/1:20,29:52:99:622,0,427	6	0	1	0
chr17	75840272	75840272	G	A	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon10:c.C811T:p.P271S	Hemophagocytic lymphohistiocytosis, familial, 3	0	1509	13	0	0	13	0.00428901	.	.	YES	727449	Familial_hemophagocytic_lymphohistiocytosis_3|UNC13D-related_disorder|Autoinflammatory_syndrome|not_specified	MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	0.0902969129249	0.0005	0.000199681	0.0005	0	0.0002	0	0.0002	0.0004	0	0.0021	0.0004528	70	154602	rs139564938	0.0004	0.0004	0.0003	0.0005	0.0020	0.0004	0.0004	0.0017	0.0016	5.974e-05	4.472e-05	3.826e-05	0	0.0003	0.0009	0.0003	0.0003	0.0020	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	7.217e-05	0	6.536e-05	0	0	0.0002	0	0.0003	0.0005	0.0010	0.05	0.39575	D	0.0	0.92824	D	0.961	0.55431	D	0.493	0.47443	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.61	0.41143	L	-0.26	0.75553	T	-0.96	0.26200	N	0.593	0.61256	-0.4877	0.69090	T	0.392	0.74583	T	10	0.03374952	0.01560	T	0.090297	0.75492	D	0.188	0.46444	.	.	0.889897263343	0.88881	0.3016775488594237	0.30080	0.509211686747	0.49061	0.605855643749	0.53731	T	0.118391	0.43917	T	-0.177881	0.24050	T	-0.0347663	0.68052	D	0.072971708485082	0.09062	T	0.908909	0.75346	D	0.17823051	0.38832	0.15995055	0.37278	0.17955011	0.39032	0.1412336	0.33639	-11.778	0.83752	D	0.4083759729414983	0.49909	0.348	0.66854	A	.;.;.;.	.;.;.;.	4.630066	0.73600	26.0	0.99915733034069731	0.98379	0.99184	0.92469	D	AEFDBI	0.910861	0.86935	D	0.525613366353833	0.68609	5.240858	0.539581637013468	0.70676	5.540299	0.999999921708331	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.56	4.56	0.55644	7.527000	0.80826	11.602000	0.93483	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	17.527	0.87701	940	0.13648	.;.;.;.	.	.	.	.	.	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	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.007576	0.07143	970.49	85	chr17	75840272	.	G	A	970.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.704;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=1.03;SOR=0.739	GT:AD:DP:GQ:PL	0/1:42,43:85:99:981,0,1013	6	0	1	0
chr17	80184196	80184196	G	A	exonic	CARD14	.	synonymous SNV	CARD14:NM_001257970:exon4:c.G633A:p.E211E,CARD14:NM_024110:exon4:c.G633A:p.E211E,CARD14:NM_001366385:exon7:c.G633A:p.E211E	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	0	505	725	292	0	1309	0.564467	.	.	.	390302	not_provided|Pityriasis_rubra_pilaris|Psoriasis_2|not_specified	MedGen:C3661900|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3867	0.347045	0.4547	0.4591	0.4132	0.3050	0.5434	0.4586	0.4259	0.4751	0.27294	42197	154602	rs4889990	0.3755	0.3729	0.3740	0.3771	0.4346	0.3747	0.3743	0.4308	0.4292	0.4143	0.2620	0.3677	0.2342	0.3867	0.4186	0.3783	0.3740	0.4346	0.3784	0.3786	0.3796	0.3771	0.4262	0.3758	0.3747	0.4112	0.4091	0.4164	0.3315	0.3063	0.3686	0.2088	0.3755	0.4150	0.3826	0.3685	0.4262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.432990	0.461957	0.414127	0.444118	0.550000	0.500000	0.412500	0.418605	0.5	12118.1	101	chr17	80184196	.	G	A	12118.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.602;DP=792;ExcessHet=0.3696;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=-0.999;SOR=0.64	GT:AD:DP:GQ:PL	1/1:0,101:101:99:3079,303,0	2	2	3	0
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	6	48	368	1100	0	2568	0.963964	.	.	.	1182690	not_provided|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	16208.4	64	chr17	80184264	.	G	A	16208.4	.	AC=13;AF=0.929;AN=14;BaseQRankSum=0.518;DP=610;ExcessHet=0;FS=0;MLEAC=13;MLEAF=0.929;MQ=60;MQRankSum=0;QD=27.52;ReadPosRankSum=-0.566;SOR=0.776	GT:AD:DP:GQ:PL	1/1:0,64:64:99:2008,192,0	0	6	1	0
chr17	80202434	80202434	T	A	UTR3	CARD14	NM_001257970:c.*10T>A	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	3	581	641	245	52	1183	0.49324	.	.	.	390303	not_specified|Psoriasis_2|Pityriasis_rubra_pilaris|not_provided	MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4160	0.35623	0.4195	0.2494	0.2489	0.4706	0.4337	0.4886	0.4391	0.3357	0.411004	63542	154602	rs8069255	0.4789	0.4785	0.4821	0.4756	0.5504	0.4779	0.4775	0.5443	0.5418	0.2463	0.2746	0.4213	0.5504	0.4314	0.4130	0.5079	0.4544	0.3360	0.4042	0.4042	0.4084	0.3999	0.5012	0.4015	0.4004	0.4967	0.4949	0.2537	0.7039	0.3372	0.4129	0.4998	0.4307	0.3946	0.5012	0.4019	0.3226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	5587.69	63	chr17	80202434	.	T	A	5587.69	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.605;DP=413;ExcessHet=8.2628;FS=3.425;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.501;SOR=0.535	GT:AD:DP:GQ:PL	0/1:34,29:63:99:733,0,874	1	0	6	0
chr17	80205094	80205094	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_024110:exon18:c.C2458T:p.R820W,CARD14:NM_001366385:exon21:c.C2458T:p.R820W	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	50	677	568	227	0	1022	0.430135	.	.	YES	390229	Autoinflammatory_syndrome|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	.	0.4093	0.353035	0.4244	0.2458	0.2536	0.4728	0.4509	0.4913	0.4363	0.3466	0.416469	64387	154602	rs11652075	0.4774	0.4773	0.4804	0.4744	0.5465	0.4765	0.4761	0.5404	0.5379	0.2319	0.2729	0.4216	0.5465	0.4308	0.4053	0.5063	0.4514	0.3424	0.3995	0.3997	0.4035	0.3954	0.4991	0.3969	0.3958	0.4946	0.4928	0.2409	0.7044	0.3346	0.4127	0.4952	0.4305	0.3844	0.4991	0.4020	0.3313	0.004	0.65419	D	0.035	0.52389	D	0.912	0.50421	P	0.17	0.35299	B	0.044886	0.23592	N	0.424901	0.99932	0.21372	P	1.04	0.26193	L	3.41	0.05574	T	-3.87	0.72594	D	0.111	0.10626	-0.9523	0.40573	T	0.000	0.00011	T	9	0.00018051267	0.00010	T	.	.	.	0.108	0.30607	.	.	.	.	0.6907763373857173	0.69017	0.3656648137	0.38159	0.328153610229	0.14655	T	0.159702	0.50324	T	-0.676618	0.00050	T	-0.600871	0.12738	T	0.0284327208824887	0.01751	T	0.822018	0.48145	T	0.073126465	0.16318	0.09188487	0.21627	0.08949082	0.20911	0.07744421	0.17251	-9.283	0.69500	D	0.35371682974795465	0.45071	0.107	0.20117	B	.;.;.	.;.;.	2.706086	0.35358	19.88	0.99284288146199018	0.58008	0.56796	0.30209	D	AEFDBCI	0.414520	0.48375	N	-0.377503514459143	0.26272	1.432592	-0.419791073847034	0.24417	1.336925	0.753767999298708	0.23401	0.554377	0.28877	0	0.550933	0.16991	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.09	1.85	0.24418	2.561000	0.45567	2.570000	0.33360	-0.249000	0.07183	0.963000	0.33788	0.978000	0.30204	0.008000	0.08271	0.3814:0.4907:0.0:0.128	4.371	0.10680	862	0.33134	.;.;.	CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood	RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|SGSH|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|SGSH	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	rs11652075	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.422805	0.408163	0.445504	0.473684	0.350000	0.456897	0.380368	0.367424	0.4286	8841.53	97	chr17	80205094	.	C	T	8841.53	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.423;DP=802;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.386;SOR=0.673	GT:AD:DP:GQ:PL	0/1:55,42:97:99:991,0,1174	1	0	6	0
chr18	46522163	46522163	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001308013:exon12:c.C1402T:p.R468C,LOXHD1:NM_001145472:exon14:c.C1690T:p.R564C,LOXHD1:NM_001384474:exon32:c.C5023T:p.R1675C,LOXHD1:NM_144612:exon32:c.C5023T:p.R1675C	Deafness, autosomal recessive 77, Autosomal recessive	0	1503	17	2	0	21	0.00693756	.	.	YES	176696	not_provided|not_specified|LOXHD1-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_77	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	0.0568717274974	0.0009	0.00139776	0.0014	0	0.0050	0	0	0.0022	0.008	0.0011	0.0004075	63	154602	rs201060702	0.0009	0.0009	0.0009	0.0010	0.0133	0.0009	0.0009	0.0109	0.0100	0.0002	0.0039	0.0035	5.596e-05	2.03e-05	0.0133	0.0007	0.0018	0.0010	0.0015	0.0015	0.0013	0.0017	0.0067	0.0014	0.0013	0.0057	0.0053	0.0003	0	0.0067	0.0049	0.0006	0	0.0102	0.0011	0.0066	0.0008	0.096	0.31088	T	0.057	0.46406	T	0.035	0.20614	B	0.009	0.14300	B	0.020273	0.27075	N	0.406010	0.68734	0.46125	D	.	.	.	-1.28	0.79376	T	-0.39	0.13611	N	0.14	0.19861	-0.6381	0.63226	T	0.304	0.67510	T	10	0.00919342	0.00208	T	0.056872	0.66763	D	0.069	0.20116	.	.	0.313818047136	0.31001	0.534502114996786	0.53375	.	.	0.270033061504	0.06145	T	0.056588	0.30328	T	-0.459099	0.00996	T	-0.432111	0.29695	T	0.0149584551504563	0.00320	T	0.826617	0.49005	T	0.08115871	0.18635	0.03569047	0.02870	0.07750342	0.17595	0.048399005	0.07179	-7.248	0.56693	T	.	.	0.062	0.01692	B	.;.;.;.;.;.	.;.;.;.;.;.	2.516742	0.32515	19.06	0.89171308905943658	0.18570	0.55066	0.29771	D	AEFDI	0.183585	0.31092	N	-0.476686026050953	0.22846	1.22277	-0.405899172129306	0.24824	1.361543	0.00802369938460465	0.11595	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.65	0.30588	1.046000	0.29964	3.493000	0.38728	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.078000	0.17132	0.4715:0.223:0.3055:0.0	4.792	0.12623	934	0.15400	PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;.;.;.;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009569	0.005319	0.000000	0.008696	0.000000	0.000000	0.023256	0.000000	0.07143	1025.44	69	chr18	46522163	.	G	A	1025.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.18;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.043;SOR=0.587	GT:AD:DP:GQ:PL	0/1:29,40:69:99:1036,0,616	6	0	1	0
chr19	8906306	8906306	G	A	exonic	MUC16	.	synonymous SNV	MUC16:NM_024690:exon27:c.C38013T:p.S12671S	.	426	1064	31	1	0	33	0.0152707	0.0011	0.282	YES	2752289	Ovarian_cancer|MUC16-related_disorder	MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1238115346	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.38e-05	0.0022	2.693e-05	0	5.131e-05	2.29e-06	8.6e-07	8.5e-06	3.18e-06	5.131e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.08333	85.26	73	chr19	8906306	.	G	A	85.26	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.81;DP=524;ExcessHet=0;FS=12.544;MLEAC=1;MLEAF=0.083;MQ=58.6;MQRankSum=-8.455;QD=1.17;ReadPosRankSum=-0.909;SOR=2.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,7:73:95:0|1:8906306_G_A:95,0,2743:8906306	5	0	1	1
chr19	8906310	8906310	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.G38009C:p.S12670T	.	426	1063	32	1	0	34	0.0157407	.	.	YES	2752290	Ovarian_cancer	MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	79.26	75	chr19	8906310	.	C	G	79.26	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.39;DP=531;ExcessHet=0;FS=9.685;MLEAC=1;MLEAF=0.083;MQ=58.6;MQRankSum=-8.573;QD=1.06;ReadPosRankSum=-0.581;SOR=2.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,7:75:89:0|1:8906306_G_A:89,0,2833:8906306	5	0	1	1
chr19	10991191	10991191	G	A	exonic	SMARCA4	.	synonymous SNV	SMARCA4:NM_001128845:exon7:c.G1287A:p.A429A,SMARCA4:NM_001128846:exon7:c.G1287A:p.A429A,SMARCA4:NM_001128848:exon7:c.G1287A:p.A429A,SMARCA4:NM_001128847:exon8:c.G1287A:p.A429A,SMARCA4:NM_001128849:exon8:c.G1287A:p.A429A,SMARCA4:NM_001374457:exon8:c.G1287A:p.A429A,SMARCA4:NM_003072:exon8:c.G1287A:p.A429A,SMARCA4:NM_001128844:exon9:c.G1287A:p.A429A	Coffin-Siris syndrome 4, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	.	208512	Rhabdoid_tumor_predisposition_syndrome_2|not_specified|not_provided|Hereditary_cancer-predisposing_syndrome|Intellectual_disability,_autosomal_dominant_16	MONDO:MONDO:0013224,MedGen:C2750074,OMIM:613325,Orphanet:231108,Orphanet:69077|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013821,MedGen:C3553249,OMIM:614609,Orphanet:1465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	5.963e-05	0	0.0004	0	0	3.092e-05	0	6.27e-05	7.12e-05	11	154602	rs143600641	4.242e-05	4.241e-05	3.676e-05	4.814e-05	0.0002	3.377e-05	3.065e-05	0.0001	9.195e-05	0	0.0002	0	0	0	0.0002	3.777e-05	6.624e-05	5.798e-05	7.219e-05	7.217e-05	0.0001	4.026e-05	0.0003	3.966e-05	3.124e-05	0.0001	8.276e-05	2.404e-05	0	0.0003	0	0	0	0	7.35e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	1176.63	87	chr19	10991191	.	G	A	1176.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.011;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=1.67;SOR=0.628	GT:AD:DP:GQ:PL	0/1:36,51:87:99:1187,0,732	6	0	1	0
chr19	11253671	11253671	G	C	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon2:c.C100G:p.H34D,DOCK6:NM_020812:exon2:c.C100G:p.H34D	Adams-Oliver syndrome 2, Autosomal recessive	1	1515	4	2	0	8	0.00263331	.	.	.	1018492	Adams-Oliver_syndrome_2|DOCK6-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0013635,MedGen:C3280182,OMIM:614219,Orphanet:974|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.158	0.0112285885313	.	0.000399361	0.0012	0	0.0020	0	0.0085	0.0019	0	0.0007	0.000304	47	154602	rs201065561	0.0006	0.0006	0.0006	0.0006	0.0041	0.0006	0.0005	0.0028	0.0024	3.921e-05	0.0004	0	0.0001	4.127e-05	0.0041	0.0006	0.0006	0.0006	0.0005	0.0005	0.0004	0.0005	0.0008	0.0004	0.0003	0.0005	0.0004	0.0002	0	0.0007	0	0	9.413e-05	0.0034	0.0006	0.0019	0.0008	0.532	0.06980	T	0.852	0.03487	T	0.005	0.12996	B	0.017	0.18140	B	0.509811	0.05140	N	1.265160	0.998934	0.21783	N	0.345	0.11182	N	2.8	0.11082	T	-2.48	0.54059	N	0.399	0.43995	-0.9853	0.33760	T	0.019	0.07939	T	10	0.0073676705	0.00167	T	0.011229	0.28641	T	0.158	0.41098	.	.	0.117506650769	0.11410	0.2994114149702106	0.29854	0.258910486306	0.28441	0.449441879988	0.31868	T	0.010838	0.09742	T	-0.517095	0.00457	T	-0.580302	0.14518	T	0.0207867502896141	0.00778	T	0.686731	0.29555	T	0.09561676	0.22507	0.12545796	0.30228	0.09561676	0.22507	0.12545796	0.30227	-1.926	0.02914	T	.	.	0.143	0.31406	B	.	.	1.999469	0.25404	16.75	0.67361397882174723	0.08332	0.93128	0.57400	D	AEFDBI	0.464187	0.51279	N	-1.03093054681705	0.07966	0.371931	-0.927020957407919	0.11457	0.5838098	0.999753778619024	0.42595	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.591603	0.36755	0	.	.	5.32	1.86	0.24489	4.752000	0.61873	.	.	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	0.0:0.0:0.6452:0.3548	15.478	0.75232	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001540	0.000000	0.000000	0.002959	0.000000	0.008772	0.003185	0.000000	0.07143	443.44	39	chr19	11253671	.	G	C	443.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.952;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.45;SOR=0.602	GT:AD:DP:GQ:PL	0/1:19,20:39:99:454,0,401	6	0	1	0
chr19	36006526	36006526	A	G	exonic	SYNE4	.	nonsynonymous SNV	SYNE4:NM_001297735:exon3:c.T425C:p.I142T,SYNE4:NM_001039876:exon5:c.T764C:p.I255T	Deafness, autosomal recessive 76, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	497517	not_provided|not_specified|SYNE4-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.116	0.00806147804124	0.0009	0.000199681	0.0007	0.0006	0	0	0	0.0008	0	0.0014	0.0004722	73	154602	rs199853331	0.0005	0.0005	0.0004	0.0005	0.0020	0.0004	0.0004	0.0017	0.0017	0.0004	0.0001	0.0078	5.066e-05	1.888e-05	0.0003	0.0002	0.0007	0.0020	0.0004	0.0004	0.0004	0.0005	0.0023	0.0004	0.0003	0.0013	0.0010	0.0004	0	6.542e-05	0.0069	0	0	0	0.0002	0	0.0023	0.002	0.72154	D	0.015	0.61642	D	0.421	0.43659	B	0.054	0.34892	B	0.175073	0.17261	N	0.601926	0.999538	0.21028	N	1.59	0.40313	L	1.19	0.37578	T	-3.06	0.65397	D	0.298	0.42639	-1.0250	0.22083	T	0.057	0.24130	T	10	0.009841025	0.00221	T	0.008061	0.21368	T	0.116	0.32463	.	.	0.506068822696	0.50244	0.11414871059187824	0.11342	0.45399419746	0.45084	0.324309319258	0.14074	T	0.085512	0.37517	T	-0.382779	0.02992	T	-0.335842	0.40814	T	0.0338687005375086	0.02616	T	0.79972	0.44511	T	0.2554635	0.48580	0.27263135	0.53175	0.2554635	0.48580	0.27263135	0.53174	-1.456	0.01676	T	0.1930892791184257	0.25396	0.153	0.33913	B	.;.;.	.;.;.	2.837389	0.37425	20.5	0.99645391696052399	0.76943	0.45144	0.27473	N	AEFDBCI	0.278001	0.39238	N	0.0178629270382107	0.42667	2.575184	0.13067327349688	0.46126	2.863729	0.635137076243517	0.22003	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.6	5.6	0.84997	2.115000	0.41544	11.085000	0.85821	0.756000	0.94297	0.498000	0.26940	1.000000	0.68203	0.571000	0.30675	1.0:0.0:0.0:0.0	12.170	0.53461	743	0.52768	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	428.9	15	chr19	36006526	.	A	G	428.9	.	AC=2;AF=0.167;AN=12;DP=170;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.59;SOR=0.818	GT:AD:DP:GQ:PL	1/1:0,15:15:45:448,45,0	5	1	0	1
chr19	53810880	53810880	G	A	exonic	NLRP12	.	nonsynonymous SNV	NLRP12:NM_001277126:exon3:c.C779T:p.T260M,NLRP12:NM_001277129:exon3:c.C779T:p.T260M,NLRP12:NM_144687:exon3:c.C779T:p.T260M	Familial cold autoinflammatory syndrome 2, Autosomal dominant	0	1507	14	1	0	16	0.00528053	.	.	.	350326	NLRP12-related_disorder|not_provided|Autoinflammatory_syndrome|Familial_cold_autoinflammatory_syndrome_2	.|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0012724,MedGen:C2673198,OMIM:611762,Orphanet:247868	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.293	0.0192899946617	0.0002	0.000399361	0.0007	9.653e-05	8.664e-05	0.0001	0	0.0005	0.0011	0.0025	0.0005757	89	154602	rs150280940	0.0004	0.0004	0.0003	0.0005	0.0031	0.0004	0.0004	0.0028	0.0027	0	0.0002	0	2.519e-05	5.623e-05	0.0010	0.0003	0.0005	0.0031	0.0003	0.0003	0.0003	0.0003	0.0017	0.0003	0.0002	0.0008	0.0006	0.0001	0	0.0002	0	0	9.42e-05	0.0068	0.0004	0.0009	0.0017	0.022	0.49117	D	0.105	0.41405	T	0.864	0.47514	P	0.399	0.44455	B	0.426532	0.04679	N	1.495180	1	0.08975	N	1.61	0.41143	L	-1.21	0.78645	T	-1.94	0.47514	N	0.136	0.18239	-0.6453	0.62918	T	0.413	0.76088	T	10	0.018002838	0.00388	T	0.01929	0.41613	T	0.293	0.61272	.	.	0.878304472939	0.87711	0.1772274434793367	0.17641	0.204375611468	0.22864	0.362346231937	0.19727	T	0.165943	0.51199	T	-0.432788	0.01426	T	-0.399684	0.33422	T	0.0184567838818328	0.00562	T	0.770023	0.39993	T	0.059065465	0.11959	0.08298804	0.18983	0.06333167	0.13325	0.10124752	0.24231	-5.212	0.39285	T	.	.	0.075	0.05890	B	.;.;.;.;.	.;.;.;.;.	0.693884	0.10624	7.327	0.96405621043405154	0.29702	0.04176	0.09674	N	AEFBI	0.102014	0.20476	N	-0.398168072505235	0.25534	1.386813	-0.564054897555743	0.20433	1.100859	0.00394253236248269	0.10351	0.623552	0.39893	0	0.573888	0.26702	0	0.667671	0.60360	0	0.613276	0.41899	0	.	.	3.99	1.6	0.22686	-0.763000	0.04846	.	.	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1183:0.1942:0.6875:0.0	6.011	0.18804	994	0.00715	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;.;.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1393.63	96	chr19	53810880	.	G	A	1393.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.22;DP=310;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.554;SOR=0.728	GT:AD:DP:GQ:PL	0/1:40,56:96:99:1404,0,836	6	0	1	0
chr19	55154042	55154042	C	T	exonic	TNNI3	.	unknown	UNKNOWN	Cardiomyopathy, dilated, 1FF;Cardiomyopathy, familial restrictive, 1, Autosomal dominant;Cardiomyopathy, hypertrophic, 7, Autosomal dominant	14	1118	329	61	0	451	0.167845	.	.	YES	52561	Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Dilated_cardiomyopathy_2A|Cardiomyopathy|Cardiomyopathy,_familial_restrictive,_1|Hypertrophic_cardiomyopathy_7|Primary_ciliary_dyskinesia	MedGen:CN230736|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN239247|MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249|MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0485	0.0477236	0.0660	0.0124	0.0333	0.0448	0.0631	0.0718	0.0944	0.1065	0.0637314	9853	154602	rs3729841	0.0678	0.0679	0.0658	0.0699	0.1603	0.0675	0.0673	0.1510	0.1473	0.0123	0.0360	0.0934	0.0259	0.0627	0.1603	0.0680	0.0744	0.1089	0.0510	0.0512	0.0507	0.0512	0.1023	0.0500	0.0496	0.0949	0.0919	0.0122	0.1086	0.0409	0.0968	0.0417	0.0598	0.1463	0.0686	0.0696	0.1023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.131923	0.080808	0.118207	0.178363	0.100000	0.086207	0.143293	0.128788	0.2857	4265.57	69	chr19	55154042	.	C	T	4265.57	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.31;DP=351;ExcessHet=0.0921;FS=3.015;MLEAC=4;MLEAF=0.286;MQ=59.91;MQRankSum=0;QD=18.07;ReadPosRankSum=0.766;SOR=0.524	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2160,207,0	4	1	2	0
chr20	3234173	3234173	T	G	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R,SLC4A11:NM_001174089:exon5:c.A433C:p.R145R,SLC4A11:NM_001174090:exon5:c.A562C:p.R188R,SLC4A11:NM_001363745:exon5:c.A433C:p.R145R	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	0	589	691	242	0	1175	0.499363	.	.	YES	257346	not_provided|Corneal_dystrophy-perceptive_deafness_syndrome|not_specified|Corneal_dystrophy|Congenital_hereditary_endothelial_dystrophy_of_cornea	MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4809	0.479832	0.4365	0.6500	0.4606	0.5707	0.5076	0.4051	0.4592	0.3121	0.0001537	4	26028	rs3827075	0.4110	0.4110	0.4142	0.4077	0.6526	0.4101	0.4098	0.6453	0.6423	0.6526	0.4601	0.3812	0.5478	0.5051	0.3844	0.3997	0.4275	0.3151	0.4855	0.4856	0.4826	0.4886	0.6474	0.4826	0.4814	0.6409	0.6382	0.6474	0.4582	0.4720	0.3725	0.5688	0.5216	0.3596	0.3968	0.4409	0.3309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.392246	0.474747	0.387228	0.353801	0.250000	0.379310	0.420732	0.363636	0.4286	12267.5	102	chr20	3234173	.	T	G	12267.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.55;DP=854;ExcessHet=1.4958;FS=0.542;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=0.297;SOR=0.772	GT:AD:DP:GQ:PL	0/1:50,52:102:99:1149,0,1245	2	1	4	0
chr20	34935572	34935572	C	G	intronic	GSS	.	.	.	Glutathione synthetase deficiency, Autosomal recessive;Hemolytic anemia due to glutathione synthetase deficiency, Autosomal recessive	2	1497	22	1	0	24	0.00795229	0.0005	0.116	.	349909	Inherited_glutathione_synthetase_deficiency|not_specified	MONDO:MONDO:0017909,MedGen:CN030166,Orphanet:32|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0002	0	0	0.0002	0	6.058e-05	9.7e-05	15	154602	rs201359061	6.536e-05	6.499e-05	5.892e-05	7.185e-05	0.0009	5.459e-05	5.07e-05	0.0003	0.0002	0	0.0001	0.0016	0	0	0.0009	1.901e-05	0.0002	0.0001	8.547e-05	8.538e-05	7.711e-05	9.423e-05	1.47e-05	4.96e-05	3.965e-05	.	.	0	0	0	0.0035	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1077.92	41	chr20	34935572	.	C	G	1077.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.53;DP=237;ExcessHet=0.4139;FS=2.56;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=1.45;SOR=0.462	GT:AD:DP:GQ:PL	0/1:21,20:41:99:493,0,466	4	0	2	1
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	212	501	433	376	0	1185	0.541838	.	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	186.9	2	chr20	44429378	.	T	C	186.9	.	AC=5;AF=0.5;AN=10;BaseQRankSum=1.65;DP=12;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.77;ReadPosRankSum=-0.524;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	2	1	2
chr22	17105960	17105960	C	T	intronic	IL17RA	.	.	.	Immunodeficiency 51, Autosomal recessive	0	1521	1	0	0	1	0.000328623	0	0	.	346983	Immunodeficiency_51	MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953,Orphanet:1334	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	9.273e-05	0	0	1.578e-05	0	0.0007	9.7e-05	15	154602	rs763664351	5.207e-05	5.267e-05	3.273e-05	7.16e-05	0.0005	4.265e-05	3.894e-05	0.0004	0.0004	2.991e-05	6.714e-05	0	2.52e-05	0	0	1.982e-05	6.632e-05	0.0005	6.571e-05	6.568e-05	7.709e-05	5.381e-05	0.0008	3.517e-05	2.616e-05	0.0003	0.0002	7.239e-05	0	0.0001	0	0.0002	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1116.49	89	chr22	17105960	.	C	T	1116.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.071;DP=277;ExcessHet=0;FS=2.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.074;SOR=0.771	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1127,0,998	6	0	1	0
chr22	26477019	26477019	T	C	exonic	HPS4	.	nonsynonymous SNV	HPS4:NM_152841:exon2:c.A235G:p.I79V,HPS4:NM_001349896:exon4:c.A250G:p.I84V,HPS4:NM_001349899:exon4:c.A250G:p.I84V,HPS4:NM_001349900:exon4:c.A250G:p.I84V,HPS4:NM_001349901:exon4:c.A250G:p.I84V,HPS4:NM_001349902:exon4:c.A250G:p.I84V,HPS4:NM_001349903:exon4:c.A250G:p.I84V,HPS4:NM_001349904:exon4:c.A250G:p.I84V,HPS4:NM_001349905:exon4:c.A250G:p.I84V,HPS4:NM_022081:exon4:c.A250G:p.I84V,HPS4:NM_001349898:exon5:c.A250G:p.I84V	Hermansky-Pudlak syndrome 4	0	1441	75	6	0	87	0.0293028	.	.	.	208784	Hermansky-Pudlak_syndrome|not_specified|not_provided|Hermansky-Pudlak_syndrome_4	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013556,MedGen:C3484357,OMIM:614073,Orphanet:231500,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.241	0.0623340178287	0.0033	0.00319489	0.0047	0.0008	0.0044	0	0.0005	0.0060	0.0088	0.0058	0.0044566	689	154602	rs149830675	0.0041	0.0041	0.0039	0.0044	0.0522	0.0040	0.0040	0.0473	0.0454	0.0010	0.0055	0.0139	5.038e-05	0.0007	0.0522	0.0038	0.0051	0.0058	0.0034	0.0034	0.0032	0.0036	0.0083	0.0032	0.0031	0.0063	0.0055	0.0007	0	0.0067	0.0138	0.0002	0.0006	0.0306	0.0039	0.0085	0.0083	0.784	0.03961	T	0.669	0.06490	T	0.003	0.11197	B	0.006	0.12133	B	0.252946	0.15471	N	0.647105	0.999999	0.08975	N	-0.255	0.03828	N	-2.39	0.88377	D	-0.13	0.08971	N	0.135	0.13198	-0.8639	0.50981	T	0.288	0.65968	T	10	0.005489439	0.00121	T	0.062334	0.68619	D	0.241	0.54641	.	.	0.351830644314	0.34792	0.24602720115319746	0.24516	0.0420540668612	0.04528	0.254519402981	0.04258	T	0.089147	0.38311	T	-0.430818	0.01466	T	-0.389836	0.34570	T	0.00123692600673586	0.00012	T	0.539746	0.18485	T	0.016885735	0.00230	0.03104766	0.01641	0.011325766	0.00016	0.025522374	0.00600	-5.249	0.39435	T	.	.	0.064	0.02091	B	.;.;.;.	.;.;.;.	-4.306508	0.00000	0.001	0.45153967050783667	0.03523	0.03203	0.08199	N	AEDGBCI	0.039190	0.05656	N	-2.06045918445669	0.00156	0.006693053	-2.15293289425116	0.00143	0.006274361	0.999999999999995	0.74766	0.719381	0.83141	0	0.662677	0.63036	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.43	-10.9	0.00151	-2.990000	0.00722	-20.000000	0.00162	-1.438000	0.01107	0.000000	0.06391	0.000000	0.08366	0.184000	0.21420	0.0:0.7341:0.0703:0.1957	21.803	0.99963	966	0.07191	.;.;.;.	.	.	.	.	.	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	0.038771	0.025253	0.048913	0.064327	0.000000	0.086207	0.024390	0.007576	0.07143	877.44	79	chr22	26477019	.	T	C	877.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.088;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=1.98;SOR=0.739	GT:AD:DP:GQ:PL	0/1:39,40:79:99:888,0,869	6	0	1	0
chr22	41925447	41925447	G	A	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon3:c.C475T:p.H159Y	Immunodeficiency, common variable, 4, Autosomal recessive	1	1457	58	6	0	70	0.0234584	.	.	.	433980	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	.	.	.	.	.	.	.	.	0.170	.	0.0052	0.00339457	0.0056	0.0022	0.0075	0	0.0025	0.0068	0.0113	0.0056	0.0054462	842	154602	rs61756766	0.0058	0.0058	0.0056	0.0060	0.0175	0.0057	0.0057	0.0148	0.0137	0.0010	0.0071	0.0047	0	0.0028	0.0175	0.0063	0.0063	0.0053	0.0058	0.0058	0.0062	0.0054	0.0114	0.0055	0.0054	0.0100	0.0095	0.0014	0	0.0114	0.0049	0	0.0024	0.0102	0.0082	0.0123	0.0042	0.0	0.91255	D	0.0	0.92824	D	0.994	0.66517	D	0.782	0.57384	P	0.000050	0.53742	D	0.000000	0.977083	0.39334	D	1.845	0.48678	L	1.12	0.38718	T	-5.5	0.85844	D	0.577	0.59901	-0.9272	0.44545	T	0.107	0.39027	T	10	0.008018851	0.00182	T	.	.	.	0.170	0.43303	.	.	0.171220215726	0.16700	0.24987367141535083	0.24901	2.05243479993	0.94345	0.620077431202	0.55740	T	0.719618	0.92065	D	-0.243223	0.14939	T	-0.114188	0.62276	T	0.0335856785113751	0.02568	T	0.572743	0.20478	T	0.809143	0.84497	0.7438588	0.84860	0.809143	0.84498	0.7438588	0.84861	-5.305	0.39993	T	0.7740092395808532	0.85470	0.357	0.57003	A	.	.	4.121410	0.61610	24.4	0.99719896673004715	0.81984	0.79281	0.39256	D	AEFDGBCI	0.531585	0.55180	D	0.494203397348341	0.66748	4.990736	0.518743897306911	0.69252	5.333989	0.999999999999299	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	5.33	5.33	0.75683	3.829000	0.55461	11.413000	0.92696	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.726000	0.34967	0.0:0.0:1.0:0.0	14.897	0.70291	130	0.94779	.	.	.	.	.	rs61756766	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.025253	0.021798	0.032353	0.000000	0.008621	0.009146	0.011364	0.07143	387.45	39	chr22	41925447	.	G	A	387.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.13;SOR=0.741	GT:AD:DP:GQ:PL	0/1:24,15:39:99:398,0,639	6	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	not_provided|Immunodeficiency,_common_variable,_4	MedGen:C3661900|MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.047660	0.030303	0.030556	0.072034	0.000000	0.064516	0.055000	0.034722	0.1	147.15	14	chr22	41926712	.	G	C	147.15	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.792;DP=131;ExcessHet=0;FS=2.027;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.888;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,8:14:99:156,0,121	4	0	1	2