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	NSWES986-F	WT	HH	HZ	NC
chr1	5947199	5947199	G	A	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_015102:exon9:c.C1024T:p.R342C	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	0	1475	45	2	0	49	0.0163388	.	.	.	265418	Kidney_disorder|Nephronophthisis|not_specified|not_provided|Nephronophthisis_4|Senior-Loken_syndrome_4	Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.765	0.0964403851515	0.0007	0.00199681	0.0014	0.0002	0.0008	0	0	0.0010	0.0011	0.0052	0.0013583	210	154602	rs190940697	0.0012	0.0012	0.0009	0.0014	0.0151	0.0011	0.0011	0.0126	0.0116	0.0003	0.0020	0.0015	0.0001	3.746e-05	0.0151	0.0008	0.0018	0.0058	0.0013	0.0013	0.0010	0.0017	0.0059	0.0012	0.0011	0.0049	0.0045	0.0002	0	0.0059	0.0006	0	9.43e-05	0.0205	0.0011	0.0009	0.0052	0.003	0.68238	D	0.003	0.76473	D	0.998	0.73220	D	0.804	0.58350	P	0.007431	0.31401	N	0.257748	0.998941	0.45735	D	2.395	0.69210	M	-2.46	0.88924	D	-4.06	0.74582	D	0.435	0.47395	0.586	0.91707	D	0.734	0.90909	D	10	0.013156593	0.00280	T	0.09644	0.76602	D	0.765	0.92046	.	.	0.976226049668	0.97597	0.5212246757217461	0.52045	0.0998960403143	0.11286	0.439795911312	0.30549	T	0.561929	0.85350	D	-0.059776	0.42943	T	0.143002	0.79739	D	0.0586649188702594	0.06956	T	0.872813	0.58483	D	0.19836012	0.41736	0.19956864	0.43846	0.19706526	0.41557	0.21434619	0.45980	-7.055	0.54435	T	0.6801097756995307	0.75638	0.108	0.20586	B	.;.	.;.	4.764337	0.77065	26.6	0.99940997024722089	0.99797	0.86448	0.45730	D	AEFDBI	0.486785	0.52581	N	0.577825742241334	0.71791	5.705099	0.571575723889554	0.72910	5.884972	0.994230220112496	0.33546	0.706548	0.73137	0	0.724815	0.89359	0	0.786243	0.99158	0	0.699875	0.68795	0	.	.	5.26	5.26	0.73479	2.983000	0.49035	7.261000	0.57960	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	14.381	0.66476	759	0.50631	.;.	.	.	.	.	.	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	0.012109	0.005051	0.013587	0.017647	0.000000	0.008621	0.003067	0.018939	0.08333	585.27	33	chr1	5947199	.	G	A	585.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.37;DP=216;ExcessHet=0;FS=6.396;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.184;SOR=1.806	GT:AD:DP:GQ:PL	0/1:25,22:47:99:595,0,581	5	0	1	1
chr1	17044783	17044783	T	C	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon2:c.A178G:p.T60A	Cowden syndrome 2, Autosomal dominant;Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4, Autosomal dominant;Pheochromocytoma, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	238187	Gastrointestinal_stromal_tumor|not_provided|Paragangliomas_4|Pheochromocytoma|SDHB-related_disorder|Carney-Stratakis_syndrome|Cowden_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified|Hereditary_pheochromocytoma-paraganglioma	Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MedGen:C3661900|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MedGen:CN239418|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286|MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350,Orphanet:201|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.845	0.342984829718	0.0002	.	7.414e-05	0	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs34599281	9.988e-05	9.987e-05	9.938e-05	0.0001	0.0001	8.646e-05	8.134e-05	0.0001	9.768e-05	5.974e-05	0	0	0	0	0	0.0001	4.968e-05	6.956e-05	6.57e-05	6.567e-05	3.854e-05	9.412e-05	0.0003	3.516e-05	2.616e-05	0.0001	8.291e-05	0	0	0.0003	0	0	0	0	7.35e-05	0	0	0.023	0.48186	D	0.122	0.47581	T	0.001	0.07471	B	0.005	0.11217	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.685	0.78553	M	-5.16	0.98796	D	-2.12	0.48184	N	0.862	0.85872	0.936	0.96183	D	0.934	0.97826	D	10	0.67948496	0.71193	D	0.342985	0.92065	D	0.845	0.95175	.	.	0.983091551675	0.98290	0.6323818218709532	0.63172	0.173623914911	0.19547	0.53711026907	0.44037	T	0.784768	0.94350	D	0.222567	0.76019	D	0.307627	0.88546	D	0.233980460552231	0.22140	T	0.974802	0.91047	D	0.43043634	0.62780	0.33751005	0.59540	0.42033783	0.62115	0.3684294	0.62133	-9.051	0.68025	D	0.2740677902587844	0.36822	0.114	0.24733	B	.;.;.	.;.;.	3.784237	0.54430	23.5	0.99376413964294741	0.61671	0.97498	0.75138	D	AEFDBI	0.876760	0.80096	D	0.240035330793247	0.53149	3.485047	0.373105705437549	0.59912	4.173247	0.999999999991865	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.242000	0.77660	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:0.0:1.0	14.843	0.69869	835	0.38313	Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur binding domain;Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur binding domain;Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur binding 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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	4693.26	34	chr1	17044783	.	T	C	4693.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.49;DP=577;ExcessHet=0.3476;FS=3.214;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.2;SOR=0.791	GT:AD:DP:GQ:PL	0/1:91,100:191:99:2326,0,1939	5	0	2	0
chr1	25800189	25800189	T	C	upstream	SELENON	dist=4	.	.	Muscular dystrophy, rigid spine, 1, Autosomal recessive;Myopathy, congenital, with fiber-type disproportion, Autosomal recessive, Autosomal dominant	1475	0	0	47	0	94	1	.	.	.	249859	not_specified|not_provided|SEPN1-related_disorder	MedGen:CN169374|MedGen:C3661900|MedGen:CN239420	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	0.0218227	568	26028	rs12121707	0.9995	0.5601	0.9993	0.9997	1.0000	0.9949	0.9930	0.9947	0.9927	0.9988	1.0000	0.9987	1.0000	1.0000	1.0000	0.9995	0.9990	1.0000	0.9997	0.9994	0.9997	0.9997	0.9999	0.9954	0.9937	0.9934	0.9908	0.9996	1.0000	0.9999	1.0000	0.9998	0.9995	1.0000	0.9998	0.9995	0.9996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	43.18	1	chr1	25800189	.	T	C	43.18	.	AC=2;AF=1;AN=2;DP=3;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
chr1	55039978	55039978	C	T	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon1:c.C141T:p.S47S	Hypercholesterolemia, familial, 3	0	1447	73	2	0	77	0.0259172	.	.	YES	249983	Cardiovascular_phenotype|not_specified|Hypobetalipoproteinemia|Hypercholesterolemia,_familial,_1|Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia|not_provided	MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0068	0.00399361	0.0207	0.0041	0.0429	0	0.0519	0.0263	0.028	0.0153	0.0080206	1240	154602	rs28385701	0.0093	0.0093	0.0091	0.0095	0.0323	0.0091	0.0091	0.0282	0.0266	0.0016	0.0102	0.0212	5.281e-05	0.0120	0.0323	0.0090	0.0104	0.0127	0.0083	0.0083	0.0079	0.0088	0.0134	0.0080	0.0078	0.0108	0.0100	0.0016	0.0022	0.0120	0.0210	0.0004	0.0129	0.0374	0.0102	0.0175	0.0134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.031504	0.047368	0.036685	0.043860	0.050000	0.017241	0.018634	0.019084	0.2857	3477.12	37	chr1	55039978	.	C	T	3477.12	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.19;DP=409;ExcessHet=2.5225;FS=0.883;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.132;SOR=0.627	GT:AD:DP:GQ:PL	0/1:43,57:100:99:1332,0,832	3	0	4	0
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q	Hypercholesterolemia, familial, 3	1	0	1	1520	0	3041	1	.	.	.	249989	Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|not_provided|not_specified|Cardiovascular_phenotype|Hypobetalipoproteinemia	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.994965	0.974747	0.994565	0.997076	1.000000	1.000000	0.996951	1.000000	1.0	22671.0	91	chr1	55057360	.	A	G	22671.0	.	AC=14;AF=1;AN=14;BaseQRankSum=2.03;DP=759;ExcessHet=0;FS=0;MLEAC=14;MLEAF=1;MQ=60;MQRankSum=0;QD=30.6;ReadPosRankSum=-0.989;SOR=0.243	GT:AD:DP:GQ:PL	1/1:0,132:132:99:4158,396,0	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	1/1:0,38:38:99:1709,115,0	1	2	4	0
chr1	94008251	94008251	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon42:c.G5882A:p.G1961E	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	0	1444	76	2	0	80	0.0269542	.	.	YES	22927	Macular_dystrophy|Severe_early-childhood-onset_retinal_dystrophy|Inborn_genetic_diseases|Retinitis_pigmentosa_19|Age_related_macular_degeneration_2|Cone-rod_dystrophy_3|Retinal_dystrophy|See_cases|Retinitis_pigmentosa|not_specified|Cone_dystrophy|ABCA4-related_retinopathy|Syndromic_retinitis_pigmentosa|not_provided|ABCA4-related_disorder|Stargardt_disease|MACULAR_DEGENERATION,_AGE-RELATED,_2,_SUSCEPTIBILITY_TO	Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718,Orphanet:791|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|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|.|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871|MONDO:MONDO:0800406,MedGen:CN322612|MedGen:C5680332,Orphanet:98661|MedGen:C3661900|MedGen:CN239167|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic/Pathogenic,_low_penetrance	.	.	.	.	.	.	.	.	0.760	.	0.0032	0.00319489	0.0051	0.0009	0.0022	0.0003	0.0008	0.0047	0.0099	0.0150	0.0046054	712	154602	rs1800553	0.0034	0.0035	0.0030	0.0038	0.0205	0.0034	0.0033	0.0175	0.0163	0.0011	0.0018	0.0222	0.0005	0.0012	0.0205	0.0024	0.0055	0.0131	0.0031	0.0031	0.0030	0.0032	0.0127	0.0029	0.0028	0.0101	0.0092	0.0006	0	0.0038	0.0239	0	0.0009	0.0238	0.0032	0.0047	0.0127	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.115	0.04602	N	-3.22	0.93352	D	-6.59	0.91998	D	0.958	0.96758	0.718	0.93404	D	0.700	0.89672	D	10	0.013598174	0.00288	T	.	.	.	0.760	0.91837	.	.	0.95236220007	0.95186	0.9507908195564003	0.95063	0.525691241502	0.50218	0.808941185474	0.83330	D	0.735078	0.96525	D	0.104235	0.64747	D	0.388626	0.91732	D	0.0712524204673148	0.08825	T	0.987126	0.95588	D	0.9324829	0.94486	0.8545386	0.91810	0.84769195	0.87167	0.8462905	0.91256	-11.219	0.80845	D	.	.	0.798	0.79927	P	.;.	.;.	4.838295	0.78968	27.0	0.99769034245070287	0.85750	0.99004	0.89829	D	AEFGBI	0.838463	0.75598	D	0.346386318059294	0.58550	4.028	0.449684121595667	0.64697	4.730842	0.999999999850586	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.35	5.35	0.76297	5.885000	0.69480	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:1.0:0.0:0.0	19.614	0.95621	400	0.82730	ABC transporter-like|ABC transporter-like;ABC transporter-like|ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.021148	0.005051	0.020380	0.023392	0.000000	0.043103	0.015244	0.030303	0.07143	1300.63	33	chr1	94008251	.	C	T	1300.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.339;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=2.04;SOR=0.76	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1311,0,1221	6	0	1	0
chr1	99881109	99881109	A	G	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon15:c.A1933G:p.T645A,AGL:NM_000642:exon15:c.A1933G:p.T645A,AGL:NM_000643:exon15:c.A1933G:p.T645A,AGL:NM_000644:exon15:c.A1933G:p.T645A,AGL:NM_000646:exon15:c.A1885G:p.T629A	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	516123	Glycogen_storage_disease_type_III|not_provided	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.222	0.0158302128751	.	.	4.947e-05	0	8.687e-05	0	0	7.497e-05	0	0	7.12e-05	11	154602	rs576969969	5.063e-05	5.062e-05	4.357e-05	5.776e-05	0.0004	4.126e-05	3.779e-05	0.0002	0.0002	0	0.0004	0.0002	0	0	0.0003	2.968e-05	0.0001	0.0001	5.258e-05	5.254e-05	3.855e-05	6.726e-05	0.0002	2.558e-05	1.83e-05	5.287e-05	2.835e-05	0	0	0.0002	0.0003	0	0	0	4.41e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.000001	0.62929	D	0.098546	0.928607	0.27116	N	-2.735	0.00029	N	-1.69	0.82985	D	3.15	0.00121	N	0.406	0.44952	-0.9495	0.41058	T	0.045	0.19437	T	10	0.06758392	0.09438	T	0.01583	0.36777	T	0.222	0.51872	0.602	0.73346	0.717622369731	0.71514	0.41927865779125334	0.41843	0.0405049159976	0.04339	0.355544745922	0.18736	T	0.085475	0.37509	T	-0.298889	0.08764	T	-0.350954	0.39097	T	0.0457085811075749	0.04731	T	0.80112	0.46793	T	0.05034634	0.09082	0.05491873	0.09536	0.05034634	0.09081	0.05491873	0.09536	2.418	0.00035	T	0.06861885834221801	0.02506	0.056	0.00470	B	.;.;.;.;.	.;.;.;.;.	1.372198	0.17825	13.39	0.13762743206219819	0.00282	0.52448	0.29134	D	AEFBI	0.065726	0.12835	N	-0.838138258941096	0.12343	0.6010989	-0.569308984161782	0.20295	1.092799	4.63100418470655E-4	0.07066	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.9	4.77	0.60425	4.555000	0.60477	4.634000	0.44128	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.220000	0.22462	0.7363:0.0:0.1366:0.1271	5.560	0.16421	856	0.34373	.;.;.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.025862	0.000000	0.000000	0.08333	863.27	34	chr1	99881109	.	A	G	863.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.337;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=-0.389;SOR=0.54	GT:AD:DP:GQ:PL	0/1:17,32:49:99:873,0,428	5	0	1	1
chr1	119743997	119743997	C	A	exonic	PHGDH	.	nonsynonymous SNV	PHGDH:NM_006623:exon12:c.C1559A:p.A520E	Neu-Laxova syndrome 1, Autosomal recessive;Phosphoglycerate dehydrogenase deficiency, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	718144	Inborn_genetic_diseases|PHGDH_deficiency|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011152,MedGen:C1866174,OMIM:601815,Orphanet:79351|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.379	0.0486002953822	0.0012	0.000399361	0.0009	0.0013	0.0010	0	0	0.0011	0.0011	0.0007	0.0008861	137	154602	rs151275800	0.0007	0.0007	0.0007	0.0007	0.0125	0.0007	0.0006	0.0102	0.0093	0.0011	0.0016	0.0069	0	0	0.0125	0.0004	0.0015	0.0011	0.0010	0.0010	0.0008	0.0012	0.0031	0.0009	0.0008	0.0024	0.0022	0.0008	0	0.0031	0.0075	0	0	0.0204	0.0004	0.0028	0.0006	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.566532	0.11282	N	0.828739	1	0.08975	N	1.04	0.26193	L	.	.	.	.	.	.	.	.	-0.8318	0.53185	T	0.234	0.60026	T	10	0.006540984	0.00148	T	0.049	0.63443	D	.	.	.	.	.	.	0.6366318522980537	0.63597	.	.	0.245699360967	0.03328	T	0.349448	0.71730	T	-0.269329	0.11832	T	-0.184276	0.56125	T	0.00205499541875495	0.00021	T	0.606339	0.22935	T	0.10596267	0.25054	0.12344998	0.29768	0.08888882	0.20750	0.12371422	0.29829	-3.725	0.19688	T	0.15874933436553146	0.19257	0.11	0.21201	B	.;.;.;.	.;.;.;.	1.436049	0.18546	13.80	0.92638486417996646	0.22111	0.16378	0.19361	N	AEFDGBHCI	0.393475	0.47110	N	-0.986973232252806	0.08881	0.4181502	-0.933380390494312	0.11309	0.5753723	0.999999769944465	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.67197	0.60751	0	0.691587	0.68394	0	.	.	5.81	2.93	0.33092	0.593000	0.23700	1.025000	0.23435	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.851000	0.40252	0.1652:0.6653:0.0:0.1696	5.167	0.14419	755	0.51144	.;.;.;.	.	.	.	.	.	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	0.010070	0.005051	0.016304	0.014620	0.000000	0.008621	0.000000	0.011364	0.07143	534.45	26	chr1	119743997	.	C	A	534.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.684;DP=207;ExcessHet=0;FS=4.388;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=1.03;SOR=0.593	GT:AD:DP:GQ:PL	0/1:21,22:43:99:545,0,475	6	0	1	0
chr1	154869723	154869723	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.241_242insAGCAGCAGC:p.Q80_P81insQQQ,KCNN3:NM_002249:exon1:c.241_242insAGCAGCAGC:p.Q80_P81insQQQ	.	384	237	23	45	833	946	0.192504	.	.	.	390549	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1054	0.0996	0.0511	0.0192	0.0319	0.0749	0.0517	0.1534	0.0001153	3	26028	rs3831942	0.1186	0.1275	0.1184	0.1189	0.2071	0.1181	0.1179	0.2028	0.2010	0.2071	0.0673	0.1121	0.0183	0.1391	0.1365	0.1193	0.1125	0.1368	0.1340	0.1347	0.1330	0.1351	0.2092	0.1324	0.1317	0.2053	0.2038	0.2092	0.0747	0.0816	0.1011	0.0113	0.1367	0.1809	0.1127	0.1263	0.1329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8122.19	27	chr1	154869723	.	G	GGCTGCTGCT	8122.19	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.879;DP=417;ExcessHet=0.4139;FS=0.813;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=33.77;ReadPosRankSum=-0.25;SOR=0.577	GT:AD:DP:GQ:PL	0/1:0,18:39:99:1838,870,793	5	0	1	1
chr1	158668076	158668078	AAA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276726	not_provided|Spherocytosis,_Recessive|Pyropoikilocytosis,_hereditary|Elliptocytosis	MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.261382	0.2751	0.1818	0.3209	0.3391	0.3421	0.2907	0.2962	0.1744	0.0001537	4	26028	rs140998442	0.2835	0.2762	0.2874	0.2795	0.3211	0.2827	0.2824	0.3164	0.3145	0.1824	0.3211	0.3004	0.3201	0.3428	0.3048	0.2886	0.2864	0.1756	0.3122	0.3051	0.3058	0.3190	0.4553	0.3097	0.3087	0.4394	0.4329	0.1942	0.4510	0.3960	0.3610	0.4553	0.4283	0.3444	0.3419	0.3398	0.2111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2827.55	24	chr1	158668075	.	GAAA	G	2827.55	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.331;DP=284;ExcessHet=0.4813;FS=2.929;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=0.299;SOR=0.995	GT:AD:DP:GQ:PL	1/0:2,18:29:78:901,78,147	5	0	2	0
chr1	158668076	158668077	AA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277730	not_provided|Spherocytosis,_Recessive|Elliptocytosis|Pyropoikilocytosis,_hereditary	MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0810703	0.0685	0.217	0.0486	0.0444	0.0610	0.0624	0.0683	0.0341	0.000461	12	26028	rs201627640	0.0479	0.0714	0.0495	0.0463	0.1870	0.0476	0.0474	0.1828	0.1811	0.1870	0.0379	0.0287	0.0233	0.0552	0.0562	0.0469	0.0521	0.0234	0.0621	0.0621	0.0632	0.0608	0.1458	0.0610	0.0605	0.1426	0.1413	0.1458	0.0193	0.0323	0.0079	0.0042	0.0424	0.0593	0.0317	0.0468	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2827.55	24	chr1	158668075	.	GAA	G	2827.55	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.331;DP=284;ExcessHet=0.4813;FS=2.929;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=0.299;SOR=0.995	GT:AD:DP:GQ:PL	0/1:2,5:29:78:901,434,400	5	0	2	0
chr1	162770331	162770331	G	A	exonic	DDR2	.	nonsynonymous SNV	DDR2:NM_001354982:exon12:c.G1323A:p.M441I,DDR2:NM_001354983:exon12:c.G1323A:p.M441I,DDR2:NM_006182:exon12:c.G1323A:p.M441I,DDR2:NM_001014796:exon13:c.G1323A:p.M441I	Spondylometaepiphyseal dysplasia, short limb-hand type, Autosomal recessive	0	1502	19	1	0	21	0.00694215	.	.	.	799144	Spondyloepimetaphyseal_dysplasia-short_limb-abnormal_calcification_syndrome|Connective_tissue_disorder|not_provided	MONDO:MONDO:0010077,MedGen:C1849011,OMIM:271665,Orphanet:93358|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0158	0.00579073	0.0149	0.0027	0.0060	0.0001	0.0212	0.0215	0.0132	0.0077	0.0150451	2326	154602	rs34722354	0.0185	0.0185	0.0188	0.0183	0.0212	0.0184	0.0183	0.0210	0.0209	0.0030	0.0084	0.0096	0	0.0208	0.0116	0.0212	0.0148	0.0085	0.0135	0.0135	0.0141	0.0128	0.0217	0.0130	0.0128	0.0208	0.0204	0.0031	0.0220	0.0087	0.0115	0.0002	0.0168	0	0.0217	0.0119	0.0096	0.229	0.24564	T	0.404	0.40586	T	0.008	0.14655	B	0.007	0.12992	B	0.000000	0.84330	D	0.047530	0.974628	0.39120	D	1.265	0.31966	L	-0.55	0.71068	T	-0.14	0.14193	N	0.237	0.26717	-1.0268	0.21494	T	0.108	0.39147	T	9	0.0065074265	0.00147	T	.	.	.	0.059	0.16972	0.127	0.03251	.	.	0.4439618461922525	0.44314	0.492487482805	0.47894	0.724141597748	0.70651	T	0.205225	0.56422	T	-0.410505	0.01972	T	-0.342167	0.40098	T	0.00758182329075529	0.00088	T	0.928407	0.76191	D	0.14106493	0.32520	0.1901826	0.42406	0.12814923	0.29968	0.1901826	0.42405	-7.85	0.60043	D	.	.	0.265	0.55964	B	.;.;.;.	.;.;.;.	4.186823	0.63073	24.5	0.98775910816450052	0.46049	0.88577	0.48570	D	AEFBI	0.195881	0.32290	N	-0.0634783243049029	0.39003	2.293148	0.166925838949336	0.48045	3.025905	0.945599255203693	0.27668	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	4.228000	0.58419	11.596000	0.93440	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0791:0.0:0.9209:0.0	11.989	0.52454	819	0.41190	.;.;.;.	.	.	UAP1	Cells_Cultured_fibroblasts	.	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	0.009567	0.005051	0.009511	0.005848	0.050000	0.000000	0.000000	0.015152	0.07143	2236.44	33	chr1	162770331	.	G	A	2236.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.469;DP=364;ExcessHet=0;FS=1.861;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.88;SOR=0.879	GT:AD:DP:GQ:PL	0/1:95,92:187:99:2247,0,2376	6	0	1	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0901	0.0583	0.0571	0.1111	0.0285	0.0764	0.1111	0.1608	0.0101813	265	26028	rs746838916	0.1940	0.2229	0.1966	0.1915	0.3563	0.1933	0.1931	0.3505	0.3481	0.0679	0.2628	0.2257	0.3563	0.2032	0.2132	0.1918	0.2017	0.1427	0.3472	0.3539	0.3502	0.3440	0.6153	0.3444	0.3432	0.5953	0.5872	0.1764	0.4207	0.4130	0.4226	0.6153	0.3414	0.3519	0.3888	0.3596	0.3282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	2264.25	31	chr1	168293284	.	A	AGT	2264.25	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.304;DP=429;ExcessHet=1.4958;FS=25.24;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.55;SOR=2.143	GT:AD:DP:GQ:PL	0/1:37,16:55:99:306,0,1326	3	0	4	0
chr1	169477323	169477323	C	T	exonic	SLC19A2	.	synonymous SNV	SLC19A2:NM_006996:exon2:c.G639A:p.K213K	Thiamine-responsive megaloblastic anemia syndrome, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	277391	not_provided|Megaloblastic_anemia,_thiamine-responsive,_with_diabetes_mellitus_and_sensorineural_deafness|Thiamine-responsive_megaloblastic_anemia	MedGen:C3661900|MONDO:MONDO:0009575,MedGen:C0342287,OMIM:249270,Orphanet:49827|Human_Phenotype_Ontology:HP:0004860,MedGen:C0271972	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0011	0.000998403	0.0015	0.0003	0.0014	0	0	0.0024	0.0044	0.0001	0.0014036	217	154602	rs137970656	0.0010	0.0010	0.0009	0.0010	0.0050	0.0009	0.0009	0.0036	0.0031	0.0004	0.0013	0.0278	0	0	0.0050	0.0003	0.0027	0.0003	0.0012	0.0013	0.0013	0.0012	0.0006	0.0011	0.0010	0.0005	0.0004	0.0002	0	0.0006	0.0346	0	0	0.0068	0.0006	0.0033	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	0.007553	0.000000	0.012228	0.008772	0.000000	0.008621	0.012195	0.000000	0.07143	4403.44	45	chr1	169477323	.	C	T	4403.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.01;DP=540;ExcessHet=0;FS=1.877;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-1.55;SOR=0.818	GT:AD:DP:GQ:PL	0/1:162,161:323:99:4414,0,4145	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	0/1:53,45:98:99:1025,0,1225	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	0/1:80,99:179:99:2686,0,1957	1	1	5	0
chr1	171110797	171110797	G	A	splicing	FMO3	NM_001319173:exon7:c.568-1G>A;NM_001002294:exon6:c.628-1G>A;NM_006894:exon6:c.628-1G>A;NM_001319174:exon5:c.439-1G>A	.	.	Trimethylaminuria, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.946	YES	2923944	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	8.245e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs779056077	4.105e-06	4.104e-06	4.084e-06	4.126e-06	5.397e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248309	0.78443	D	0.134388	0.79178	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.873963	0.93905	33	0.99311456576689727	0.59017	0.95531	0.65092	D	AEFBI	.	.	.	0.942690804425647	0.93687	12.20858	0.737585071532207	0.85225	8.518031	0.999999794574893	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.87932	0.54673	4.99	4.08	0.46880	8.821000	0.91637	11.534000	0.93101	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.824000	0.38829	0.0785:0.0:0.9215:0.0	12.979	0.57957	713	0.56348	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	790.45	35	chr1	171110797	.	G	A	790.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.63;DP=240;ExcessHet=0;FS=2.254;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.051;SOR=1.013	GT:AD:DP:GQ:PL	0/1:38,28:66:99:801,0,1094	6	0	1	0
chr1	173828310	173828310	T	-	intronic	DARS2	.	.	.	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, Autosomal recessive	95	1370	46	1	10	58	0.0172166	.	.	.	549865	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2284	0.000998403	0.0381	0.0103	0.0297	0.0469	0.0267	0.0443	0.0472	0.0364	0.0004226	11	26028	rs368180250	0.0178	0.0381	0.0169	0.0187	0.0272	0.0176	0.0175	0.0258	0.0252	0.0047	0.0187	0.0476	0.0272	0.0203	0.0217	0.0170	0.0206	0.0158	0.0020	0.0026	0.0018	0.0023	0.0043	0.0018	0.0018	0.0034	0.0031	0.0006	0	0.0043	0.0064	0.0006	0.0016	0	0.0024	0.0035	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1140.48	17	chr1	173828309	.	CT	C	1140.48	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.225;DP=223;ExcessHet=1.1394;FS=23.064;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-1.276;SOR=0.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,5:26:59:.:.:59,0,474:.	5	0	2	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	0/1:40,24:64:99:462,0,987	0	4	2	1
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	207	250	453	612	0	1677	0.770326	.	.	YES	278205	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.631923	0.681818	0.582880	0.669591	0.500000	0.620690	0.606707	0.696970	0.6429	12773.1	34	chr1	196690107	.	C	T	12773.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=0;DP=576;ExcessHet=0.4813;FS=0.727;MLEAC=9;MLEAF=0.643;MQ=59.98;MQRankSum=0;QD=24.15;ReadPosRankSum=0.71;SOR=0.558	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3263,318,0	1	3	3	0
chr1	196743447	196743447	T	C	intronic	CFH	.	.	.	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	2	810	709	1	0	711	0.305019	0	0.028	.	865078	Age_related_macular_degeneration_4|Basal_laminar_drusen|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_specified|Atypical_hemolytic-uremic_syndrome|not_provided	MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN169374|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2585	0.2335	0.3236	0.3530	0.2551	0.2478	0.2636	0.2241	0.0001035	16	154602	rs513699	0.0899	0.2501	0.0919	0.0878	0.1935	0.0893	0.0891	0.1884	0.1864	0.0730	0.1344	0.0955	0.1935	0.1086	0.0549	0.0875	0.0860	0.0598	0.0293	0.1436	0.0285	0.0300	0.0485	0.0284	0.0280	0.0448	0.0434	0.0296	0.0038	0.0485	0.0263	0.0478	0.0280	0.0084	0.0251	0.0321	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	6043.21	34	chr1	196743447	.	T	C	6043.21	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.976;DP=765;ExcessHet=2.5225;FS=8.96;MLEAC=4;MLEAF=0.286;MQ=56.8;MQRankSum=-13.55;QD=9.41;ReadPosRankSum=-3.057;SOR=1.459	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,85:215:99:0|1:196743447_T_C:3125,0,5108:196743447	3	0	4	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q	.	440	2	22	1058	0	2138	0.998133	.	.	YES	1704217	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	16397.3	67	chr1	226735804	.	G	T	16397.3	.	AC=12;AF=1;AN=12;DP=535;ExcessHet=0;FS=0;MLEAC=13;MLEAF=1;MQ=60;QD=31.35;SOR=0.818	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3043,288,0	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	0/1:38,39:77:99:1063,0,1010	3	0	4	0
chr1	226736941	226736941	C	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.G518A:p.R173H	.	430	682	354	56	0	466	0.254645	.	.	.	1704218	not_specified|Myeloproliferative_neoplasm,_unclassifiable	MedGen:CN169374|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.056	.	0.1800	0.227037	0.2073	0.1738	0.3185	0.3280	0.1558	0.1880	0.1973	0.1848	0.19979	30888	154602	rs3754415	0.1881	0.1880	0.1884	0.1878	0.3351	0.1875	0.1873	0.3303	0.3283	0.1707	0.2966	0.2663	0.3351	0.1548	0.2880	0.1782	0.1943	0.1838	0.1865	0.1867	0.1856	0.1874	0.3138	0.1847	0.1839	0.3011	0.2959	0.1682	0.1151	0.2325	0.2674	0.3138	0.1523	0.3333	0.1781	0.2009	0.1956	0.032	0.44694	D	0.02	0.58613	D	0.946	0.53363	P	0.224	0.37970	B	0.000055	0.53742	D	0.000000	0.418022	0.32383	P	0.895	0.22405	L	1.24	0.37746	T	-0.65	0.47514	N	0.124	0.34981	-0.9584	0.39479	T	0.000	0.00011	T	9	0.0021621883	0.00031	T	.	.	.	0.056	0.15993	.	.	.	.	0.23406785644181313	0.23321	0.861550697469	0.68985	0.704100191593	0.67737	T	0.12802	0.45541	T	-0.616075	0.00116	T	-0.513906	0.20915	T	0.0266560751426077	0.01496	T	0.835916	0.50694	T	0.114855304	0.27110	0.07389491	0.16108	0.114855304	0.27110	0.07389491	0.16108	-5.753	0.44163	T	.	.	0.218	0.47976	B	.;.;.	.;.;.	5.064409	0.84424	28.3	0.9994872816168342	0.99931	0.74930	0.36668	D	AEFDBCI	0.356379	0.44778	N	0.214153401976771	0.51885	3.366394	0.283554889984617	0.54579	3.622453	0.999998532014926	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.6	4.6	0.56512	1.881000	0.39273	5.847000	0.50302	0.599000	0.40250	0.765000	0.29300	1.000000	0.68203	0.991000	0.66497	0.0:0.8609:0.0:0.1391	9.190	0.36357	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	.	.	rs3754415	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.286002	0.292929	0.293478	0.339181	0.250000	0.267241	0.304878	0.185606	0.07143	1356.63	38	chr1	226736941	.	C	T	1356.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.192;DP=324;ExcessHet=0;FS=5.497;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.141;SOR=0.308	GT:AD:DP:GQ:PL	0/1:38,53:91:99:1367,0,939	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	0/1:39,5:48:1:1,0,912	1	0	6	0
chr1	237833281	237833281	-	A	UTR3	RYR2	NM_001035:c.*634_*635insA	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	1408	66	5	15	28	63	0.209581	.	.	.	280387	not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs377407067	0.2755	0.0041	0.2917	0.2703	.	0.1945	0.1673	.	.	.	.	.	.	0.2812	.	.	0	.	0.4582	0.4444	0.4668	0.4482	0.5296	0.4549	0.4535	0.5246	0.5225	0.3777	0.5124	0.3661	0.6708	0.0836	0.4726	0.6667	0.5296	0.4907	0.3968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	718.54	11	chr1	237833281	.	G	GA	718.54	.	AC=3;AF=0.25;AN=12;DP=81;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;QD=23.95;SOR=2.621	GT:AD:DP:GQ:PL	0/1:0,11:13:13:322,51,13	4	1	1	1
chr2	21003040	21003040	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.G12382A:p.V4128M	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	1	1501	19	1	0	21	0.00694674	.	.	YES	366335	Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|not_specified|not_provided|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	.	0.0067	0.00339457	0.0062	0.0009	0.0059	0	0.0064	0.0080	0.0146	0.0049	0.0058602	906	154602	rs1801703	0.0072	0.0072	0.0073	0.0072	0.0100	0.0071	0.0071	0.0079	0.0079	0.0017	0.0043	0.0007	7.656e-05	0.0054	0.0100	0.0081	0.0075	0.0052	0.0056	0.0056	0.0057	0.0054	0.0093	0.0053	0.0051	0.0087	0.0085	0.0016	0	0.0046	0.0012	0	0.0048	0.0034	0.0093	0.0052	0.0029	0.618	0.05341	T	0.684	0.06033	T	.	.	.	.	.	.	0.051185	0.02021	N	1.899840	1	0.08975	N	.	.	.	1.47	0.31987	T	0.16	0.05217	N	0.065	0.03726	-1.0567	0.12595	T	0.016	0.06425	T	10	0.0028062165	0.00044	T	.	.	.	0.024	0.04979	.	.	0.149567049428	0.14543	0.09888669999826209	0.09819	0.0368754698301	0.03907	0.182299241424	0.00117	T	.	.	.	-0.723562	0.00026	T	-0.804162	0.01801	T	0.00187586309304137	0.00019	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09045	B	.	.	-0.778509	0.01150	0.054	0.56985998092514478	0.05670	0.04011	0.09439	N	AEFGBHCI	0.241675	0.36325	N	-2.3493621597773	0.00035	0.001513355	-2.3987015562225	0.00039	0.001737205	0.999999999999984	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.99	-12.0	0.00013	-1.855000	0.01755	-8.347000	0.00985	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2677:0.4423:0.1244:0.1655	5.102	0.14098	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.010101	0.014946	0.011696	0.000000	0.000000	0.006098	0.003788	0.1429	3150.24	41	chr2	21003040	.	C	T	3150.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.73;DP=445;ExcessHet=0.3476;FS=0.451;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.865;SOR=0.66	GT:AD:DP:GQ:PL	0/1:71,61:132:99:1474,0,1643	5	0	2	0
chr2	21006737	21006737	C	T	exonic	APOB	.	synonymous SNV	APOB:NM_000384:exon26:c.G10131A:p.L3377L	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	1	1501	19	1	0	21	0.00694674	.	.	.	260633	Hypercholesterolemia,_autosomal_dominant,_type_B|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1|Familial_hypobetalipoproteinemia_1|not_provided|Familial_hypercholesterolemia|not_specified	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MedGen:C3661900|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0066	0.00339457	0.0061	0.0009	0.0055	0	0.0064	0.0077	0.0143	0.0058	0.0058667	907	154602	rs1799812	0.0071	0.0071	0.0071	0.0071	0.0095	0.0070	0.0070	0.0079	0.0078	0.0016	0.0041	0.0007	2.519e-05	0.0054	0.0095	0.0080	0.0074	0.0054	0.0056	0.0056	0.0057	0.0054	0.0093	0.0053	0.0051	0.0087	0.0084	0.0015	0	0.0046	0.0012	0	0.0048	0.0034	0.0093	0.0052	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.010574	0.010101	0.017663	0.011696	0.000000	0.000000	0.006098	0.003788	0.1429	15429.2	36	chr2	21006737	.	C	T	15429.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.604;DP=1562;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.718;SOR=0.708	GT:AD:DP:GQ:PL	0/1:383,283:666:99:6854,0,9941	5	0	2	0
chr2	26473506	26473506	C	T	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon10:c.G1400A:p.R467Q,OTOF:NM_004802:exon11:c.G1229A:p.R410Q,OTOF:NM_194323:exon11:c.G1229A:p.R410Q,OTOF:NM_001287489:exon28:c.G3470A:p.R1157Q,OTOF:NM_194248:exon28:c.G3470A:p.R1157Q	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	34697	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_9	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.362	.	0.0110	0.00459265	0.0081	0.0019	0.0106	0	0.0017	0.0120	0.0112	0.0007	0.0083958	1298	154602	rs56054534	0.0129	0.0129	0.0133	0.0124	0.0156	0.0127	0.0127	0.0154	0.0153	0.0018	0.0101	0.0035	2.519e-05	0.0017	0.0054	0.0156	0.0116	0.0009	0.0085	0.0085	0.0097	0.0072	0.0146	0.0081	0.0079	0.0138	0.0135	0.0024	0.0033	0.0097	0.0023	0	0.0012	0	0.0146	0.0123	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.304	0.90584	B	0.08	0.88582	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.99	0.01185	N	-1.86	0.84341	D	-1.51	0.36787	N	0.372	0.46928	-0.2881	0.75318	T	0.404	0.75437	T	10	0.0115759075	0.00252	T	.	.	.	0.362	0.68230	.	.	0.877644448943	0.87645	0.6851378974929915	0.68452	0.705363785392	0.61389	0.691280901432	0.65890	T	0.070424	0.33956	T	-0.24304	0.14963	T	-0.108261	0.62750	T	0.0127023773526096	0.00214	T	0.909809	0.68064	D	0.24535653	0.47493	0.19604436	0.43314	0.2948645	0.52440	0.18098336	0.40931	-10.723	0.78117	D	0.2024114696540764	0.26920	0.553	0.69267	A	.;.;.;.;.;.	.;.;.;.;.;.	4.930825	0.81297	27.5	0.99607911026462903	0.74634	0.92714	0.56366	D	AEFDBI	0.738386	0.68328	D	-0.0526438856599759	0.39485	2.329189	0.108311908104844	0.44973	2.768858	0.99999999999925	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.21	5.21	0.72005	2.763000	0.47287	5.902000	0.50901	0.549000	0.26987	0.985000	0.35982	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	18.342	0.90251	420	0.81451	.;.;.;.;.;.	GAREM2	Brain_Substantia_nigra	.	.	.	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	0.003525	0.000000	0.005435	0.008772	0.000000	0.008621	0.003049	0.000000	0.07143	770.45	37	chr2	26473506	.	C	T	770.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.36;DP=257;ExcessHet=0;FS=0.888;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=0.562;SOR=0.811	GT:AD:DP:GQ:PL	0/1:42,32:74:99:781,0,917	6	0	1	0
chr2	43826460	43826460	G	A	exonic	ABCG5	.	synonymous SNV	ABCG5:NM_022436:exon6:c.C696T:p.V232V	Sitosterolemia, Autosomal recessive	0	1477	43	2	0	47	0.0156614	.	.	.	268049	Cardiovascular_phenotype|not_specified|Sitosterolemia|Sitosterolemia_1|not_provided	MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882|MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0015	0.00159744	0.0019	0.0007	0.0022	0	0	0.0021	0.0022	0.0035	0.0018176	281	154602	rs72796720	0.0020	0.0020	0.0018	0.0022	0.0217	0.0020	0.0019	0.0186	0.0174	0.0016	0.0031	0.0023	0	3.744e-05	0.0217	0.0018	0.0032	0.0040	0.0016	0.0016	0.0015	0.0018	0.0035	0.0015	0.0014	0.0022	0.0020	0.0004	0	0.0029	0.0046	0	0	0.0102	0.0021	0.0047	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	0.015625	0.005051	0.027248	0.002924	0.050000	0.034483	0.003049	0.000000	0.07143	794.63	33	chr2	43826460	.	G	A	794.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.31;DP=247;ExcessHet=0;FS=0.896;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.559;SOR=0.663	GT:AD:DP:GQ:PL	0/1:38,33:71:99:805,0,855	6	0	1	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I	Cystinuria, Autosomal recessive, Autosomal dominant	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	1/1:0,106:106:99:3326,318,0	1	3	3	0
chr2	69326244	69326244	A	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	290634	Congenital_myasthenic_syndrome_12|not_provided|not_specified|Congenital_Myasthenic_Syndrome,_Recessive	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900|MedGen:CN169374|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.5003	0.5725	0.4843	0.3357	0.5331	0.5252	0.4928	0.4503	0.0001537	4	26028	rs201330278	0.4721	0.4795	0.4728	0.4714	0.5446	0.4710	0.4706	0.5371	0.5340	0.5446	0.4487	0.5008	0.2970	0.4755	0.5037	0.4796	0.4730	0.4329	0.6332	0.6282	0.6394	0.6266	0.7813	0.6298	0.6283	0.7741	0.7711	0.7813	0.6810	0.5747	0.6455	0.3023	0.5629	0.6418	0.5950	0.6144	0.5344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1190.02	20	chr2	69326243	.	GA	G	1190.02	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.56;DP=207;ExcessHet=4.7409;FS=0.59;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.211;SOR=0.62	GT:AD:DP:GQ:PL	0/1:13,12:27:99:258,0,263	2	0	5	0
chr2	70959974	70959974	G	A	exonic	ATP6V1B1	.	nonsynonymous SNV	ATP6V1B1:NM_001692:exon6:c.G481A:p.E161K	Renal tubular acidosis with deafness, Autosomal recessive	0	1256	247	19	0	285	0.101895	.	.	YES	53396	not_specified|not_provided|Renal_tubular_acidosis_with_progressive_nerve_deafness	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009968,MedGen:C0403554,OMIM:267300,Orphanet:93611	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.245	.	0.0232	0.0289537	0.0306	0.0250	0.0125	0.0001	0.0490	0.0272	0.0454	0.0685	0.0293463	4537	154602	rs114234874	0.0249	0.0249	0.0230	0.0269	0.0712	0.0247	0.0246	0.0697	0.0691	0.0274	0.0136	0.0589	0.0002	0.0528	0.0690	0.0201	0.0284	0.0712	0.0260	0.0261	0.0245	0.0275	0.0644	0.0253	0.0251	0.0585	0.0562	0.0261	0.0011	0.0184	0.0553	0.0004	0.0491	0.0612	0.0217	0.0331	0.0644	0.136	0.26519	T	0.196	0.28764	T	0.001	0.16867	B	0.005	0.11217	B	0.000038	0.55875	D	0.000000	1	0.81001	D	0.475	0.13142	N	-1.58	0.81987	D	-1.85	0.43334	N	0.459	0.49602	-0.6437	0.62987	T	0.142	0.46312	T	10	0.0060780346	0.00137	T	.	.	.	0.245	0.55201	.	.	.	.	0.7894849641373344	0.78900	0.348821776332	0.36742	0.779242157936	0.78813	T	0.303278	0.67564	T	-0.316591	0.07181	T	-0.176486	0.56848	T	0.0239386013980681	0.01138	T	0.987751	0.95824	D	0.27729845	0.50788	0.21772106	0.46448	0.2430736	0.47241	0.21201313	0.45652	-13.016	0.89430	D	0.09918904614847013	0.07178	0.214	0.44306	B	.;.;.	.;.;.	5.669601	0.92930	33	0.99854275506567114	0.93368	0.98739	0.86233	D	AEFDBI	0.923668	0.90050	D	0.0732190723337372	0.45217	2.781897	0.2264564783132	0.51319	3.315583	0.999999999976642	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.47	4.47	0.53770	9.994000	0.99266	8.662000	0.77976	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	14.669	0.68536	826	0.39940	.;.;.	FAM136A	Artery_Coronary	.	.	.	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	0.068479	0.050505	0.062500	0.078947	0.050000	0.086207	0.054878	0.102273	0.1429	3324.34	33	chr2	70959974	.	G	A	3324.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.63;DP=458;ExcessHet=0.3476;FS=4.396;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=2.15;SOR=0.754	GT:AD:DP:GQ:PL	0/1:87,55:142:99:1326,0,1951	5	0	2	0
chr2	71644058	71644058	C	T	exonic	DYSF	.	synonymous SNV	DYSF:NM_001130976:exon40:c.C4462T:p.L1488L,DYSF:NM_001130986:exon40:c.C4465T:p.L1489L,DYSF:NM_001130455:exon41:c.C4507T:p.L1503L,DYSF:NM_001130977:exon41:c.C4525T:p.L1509L,DYSF:NM_001130980:exon41:c.C4555T:p.L1519L,DYSF:NM_001130984:exon41:c.C4528T:p.L1510L,DYSF:NM_001130985:exon41:c.C4558T:p.L1520L,DYSF:NM_003494:exon41:c.C4504T:p.L1502L,DYSF:NM_001130978:exon42:c.C4567T:p.L1523L,DYSF:NM_001130979:exon42:c.C4597T:p.L1533L,DYSF:NM_001130981:exon42:c.C4618T:p.L1540L,DYSF:NM_001130982:exon42:c.C4600T:p.L1534L,DYSF:NM_001130983:exon42:c.C4570T:p.L1524L,DYSF:NM_001130987:exon42:c.C4621T:p.L1541L	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	1	1393	121	7	0	135	0.046217	.	.	.	100225	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Qualitative_or_quantitative_defects_of_dysferlin|not_specified|Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_muscular_dystrophy_1|Miyoshi_myopathy	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0076	0.00858626	0.0107	0.0101	0.0064	0.0001	0.0046	0.0109	0.0061	0.0209	0.0081694	1263	154602	rs7573406	0.0082	0.0083	0.0078	0.0086	0.0328	0.0081	0.0081	0.0290	0.0275	0.0077	0.0069	0.0096	0	0.0035	0.0328	0.0079	0.0104	0.0170	0.0081	0.0082	0.0084	0.0078	0.0145	0.0078	0.0076	0.0118	0.0108	0.0080	0	0.0088	0.0072	0.0002	0.0023	0.0340	0.0091	0.0123	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.025706	0.020202	0.027174	0.020468	0.000000	0.017241	0.036810	0.015152	0.07143	540.45	35	chr2	71644058	.	C	T	540.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.01;DP=242;ExcessHet=0;FS=2.155;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=0.058;SOR=0.72	GT:AD:DP:GQ:PL	0/1:35,26:61:99:551,0,808	6	0	1	0
chr2	113062899	113062899	T	C	UTR3	IL36RN	NM_173170:c.*222T>C;NM_012275:c.*222T>C	.	.	Psoriasis 14, pustular, Autosomal recessive	910	207	66	339	0	744	0.642487	.	.	.	283604	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.108433	16764	154602	rs2515401	0.6460	0.6350	0.6359	0.6549	0.7967	0.6440	0.6431	0.7899	0.7872	0.7121	0.6981	0.6741	0.7292	0.6065	0.7411	0.6034	0.6506	0.7967	0.6525	0.6525	0.6494	0.6557	0.8018	0.6490	0.6476	0.7807	0.7721	0.7072	0.7566	0.6635	0.6876	0.7070	0.6292	0.7381	0.6008	0.6886	0.8018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	224.6	2	chr2	113062899	.	T	C	224.6	.	AC=4;AF=0.5;AN=8;BaseQRankSum=1.28;DP=15;ExcessHet=0.3892;FS=3.09;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=20.42;ReadPosRankSum=0;SOR=2.584	GT:AD:DP:GQ:PL	0/1:3,2:5:68:68,0,75	1	1	2	3
chr2	113062953	113062953	A	G	UTR3	IL36RN	NM_173170:c.*276A>G;NM_012275:c.*276A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1089	122	46	265	0	576	0.702439	.	.	.	283793	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|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	1/1:0,2:2:6:65,6,0	2	3	0	2
chr2	113063237	113063237	C	G	UTR3	IL36RN	NM_173170:c.*560C>G;NM_012275:c.*560C>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1358	52	16	96	0	208	0.666667	.	.	.	283621	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs2472188	0.6442	0.2093	0.6229	0.6642	0.8136	0.6347	0.6308	0.7836	0.7715	0.7306	0.7069	0.6489	0.6812	0.5876	0.7857	0.5765	0.6300	0.8136	0.6525	0.6525	0.6495	0.6556	0.8015	0.6491	0.6477	0.7804	0.7718	0.7072	0.7582	0.6636	0.6882	0.7068	0.6303	0.7381	0.6007	0.6873	0.8015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	137.5	.	chr2	113063237	.	C	G	137.5	.	AC=4;AF=0.667;AN=6;DP=9;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=60;QD=22.92;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	1	2	0	4
chr2	113227140	113227140	C	T	intronic	PAX8	.	.	.	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, Autosomal dominant	1	1494	26	1	0	28	0.00928382	.	.	.	283981	not_specified|not_provided|Hypothyroidism,_congenital,_nongoitrous,_2	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024264,MedGen:C1869118,OMIM:218700,Orphanet:95712	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0028	0.00239617	0.0066	0.0004	0.0137	0	0.0052	0.0117	0.0286	0.0013	0.0024903	385	154602	rs149585280	0.0037	0.0037	0.0037	0.0038	0.0105	0.0036	0.0036	0.0084	0.0076	0.0009	0.0027	0.0017	0	0.0006	0.0105	0.0042	0.0037	0.0022	0.0027	0.0027	0.0029	0.0024	0.0052	0.0025	0.0024	0.0043	0.0040	0.0009	0	0.0052	0.0012	0	0.0003	0.0102	0.0037	0.0080	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	653.83	34	chr2	113227140	.	C	T	653.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.01;DP=262;ExcessHet=0;FS=8.97;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=0.352;SOR=1.274	GT:AD:DP:GQ:PL	0/1:57,33:90:99:664,0,1286	6	0	1	0
chr2	132645376	132645376	G	A	exonic	GPR39	.	nonsynonymous SNV	GPR39:NM_001508:exon2:c.G1132A:p.A378T	.	427	1086	8	1	0	10	0.00458295	.	.	.	215215	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.106	.	0.0091	0.00299521	0.0063	0.0012	0.0069	0	0.0014	0.0095	0.0078	0.0010	0.0064488	997	154602	rs61735719	0.0091	0.0091	0.0094	0.0088	0.0111	0.0090	0.0089	0.0101	0.0100	0.0014	0.0063	0.0286	0	0.0023	0.0111	0.0102	0.0101	0.0010	0.0064	0.0064	0.0063	0.0064	0.0091	0.0060	0.0059	0.0082	0.0080	0.0019	0	0.0091	0.0297	0	0.0019	0.0102	0.0088	0.0109	0.0008	0.464	0.08634	T	0.559	0.09144	T	0.112	0.26290	B	0.026	0.20792	B	0.000000	0.00162	N	9.583410	1	0.08975	N	1.59	0.40313	L	-0.0	0.62608	T	0.09	0.05917	N	0.085	0.06190	-1.0273	0.21331	T	0.086	0.33354	T	10	0.0032978952	0.00057	T	.	.	.	0.106	0.30130	.	.	0.185906805712	0.18197	0.17599505983418076	0.17518	0.317629529523	0.34004	0.216303244233	0.01107	T	0.051421	0.28873	T	-0.634894	0.00089	T	-0.673726	0.07372	T	0.00198395662676419	0.00020	T	0.346965	0.07635	T	0.030566081	0.02742	0.059936635	0.11332	0.030566081	0.02742	0.059936635	0.11331	-1.228	0.01291	T	0.14981847882614366	0.17548	0.066	0.02285	B	.	.	-0.362900	0.02354	0.256	0.9033183416194337	0.19597	0.13917	0.18123	N	AEFDBHCI	0.084354	0.17096	N	-1.45776017297196	0.02156	0.09491289	-1.57398874228423	0.01816	0.08269665	0.999738473075193	0.42341	0.706548	0.73137	0	0.573888	0.26702	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	4.23	-6.36	0.01796	-0.256000	0.08778	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1566:0.2627:0.1281:0.4526	2.091	0.03435	964	0.07719	.	.	.	.	.	.	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	0.005181	0.015152	0.002717	0.003497	0.050000	0.008621	0.009146	0.000000	0.07143	2435.44	33	chr2	132645376	.	G	A	2435.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.782;DP=391;ExcessHet=0;FS=0.534;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.999;SOR=0.759	GT:AD:DP:GQ:PL	0/1:95,94:189:99:2446,0,2518	6	0	1	0
chr2	151546001	151546001	-	A	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282777	not_specified|Nemaline_myopathy_2|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2521	0.1709	0.2716	0.2475	0.2950	0.2447	0.2589	0.2849	0.0001921	5	26028	rs762865768	0.2760	0.2628	0.2762	0.2759	0.3185	0.2751	0.2747	0.3132	0.3111	0.2337	0.3066	0.2747	0.3185	0.2903	0.2933	0.2740	0.2796	0.2642	0.2606	0.2606	0.2567	0.2647	0.3671	0.2583	0.2574	0.3587	0.3552	0.1876	0.2989	0.3671	0.2638	0.3220	0.2881	0.2862	0.2731	0.2600	0.2294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	992.86	25	chr2	151546001	.	T	TA	992.86	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.411;DP=224;ExcessHet=3.1439;FS=2.519;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=0.757;SOR=0.968	GT:AD:DP:GQ:PL	1/0:1,7:18:99:366,164,138	3	0	3	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	0/1:1,10:18:99:366,111,110	3	0	3	1
chr2	152098976	152098976	C	T	exonic	CACNB4	.	synonymous SNV	CACNB4:NM_000726:exon1:c.G36A:p.A12A,CACNB4:NM_001145798:exon1:c.G36A:p.A12A	Episodic ataxia, type 5, Autosomal dominant	5	1515	2	0	0	2	0.000659631	.	.	.	190287	Idiopathic_generalized_epilepsy|CACNB4-related_disorder|not_specified|not_provided	MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	6.41e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs754380009	5.222e-05	5.678e-05	4.866e-05	5.588e-05	0.0002	4.233e-05	3.89e-05	5.165e-05	4.732e-05	0	0	0	0	0	0.0002	6.428e-05	3.508e-05	0	3.29e-05	3.284e-05	5.145e-05	1.347e-05	7.358e-05	1.262e-05	7.99e-06	2.849e-05	1.86e-05	0	0	0	0	0	0	0	7.358e-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	.	.	.	.	.	.	.	.	0.08333	218.27	24	chr2	152098976	.	C	T	218.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.342;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.29;SOR=1.085	GT:AD:DP:GQ:PL	0/1:8,10:18:99:228,0,183	5	0	1	1
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1072	24	1	0	26	0.0119816	1.0000	0.938	YES	516567	Immunodeficiency_95|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1044.46	33	chr2	162268086	.	C	T	1044.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.214;DP=270;ExcessHet=0;FS=0.85;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-1.124;SOR=0.555	GT:AD:DP:GQ:PL	0/1:49,44:93:99:1055,0,1240	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	1/0:2,6:11:15:224,15,58	0	0	6	1
chr2	174750181	174750181	A	-	intronic	CHRNA1	.	.	.	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 1A, slow-channel, Autosomal dominant;Myasthenic syndrome, congenital, 1B, fast-channel, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	285836	Congenital_Myasthenic_Syndrome,_Dominant/Recessive|not_provided|Autosomal_recessive_multiple_pterygium_syndrome	MedGen:CN239246|MedGen:C3661900|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1009	0.2306	0.0531	0.0740	0.0576	0.0815	0.1098	0.1662	0.0003842	10	26028	rs67309103	0.1040	0.1178	0.1022	0.1057	0.2650	0.1035	0.1033	0.2601	0.2580	0.2650	0.0637	0.0864	0.1054	0.0524	0.1415	0.0962	0.1146	0.1809	0.1411	0.1427	0.1412	0.1409	0.3022	0.1394	0.1388	0.2976	0.2958	0.3022	0.0573	0.0874	0.0715	0.0814	0.0376	0.1514	0.0761	0.1283	0.2175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	6005.62	23	chr2	174750180	.	CA	C	6005.62	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.929;DP=314;ExcessHet=0;FS=2.004;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=27.8;ReadPosRankSum=-0.765;SOR=1.543	GT:AD:DP:GQ:PL	0/1:0,14:34:99:878,448,360	5	0	2	0
chr2	178549450	178549450	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon167:c.C64981T:p.P21661S,TTN:NM_133432:exon168:c.C65356T:p.P21786S,TTN:NM_133437:exon168:c.C65557T:p.P21853S,TTN:NM_133378:exon288:c.C84472T:p.P28158S,TTN:NM_001256850:exon289:c.C87253T:p.P29085S,TTN:NM_001267550:exon339:c.C92176T:p.P30726S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1505	14	2	0	18	0.00594452	.	.	YES	56684	Cardiomyopathy|Supraventricular_tachycardia|Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Tip-toe_gait|Dilated_Cardiomyopathy,_Dominant|TTN-related_myopathy|Limb-girdle_muscular_dystrophy,_recessive|TTN-related_disorder|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MedGen:CN239310|MONDO:MONDO:0100175,MedGen:CN294812|MedGen:CN239352|.|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.520	0.0713444663686	0.0017	0.00199681	0.0025	0.0001	0.0007	0	0.0012	0.0030	0.0022	0.0049	0.0024838	384	154602	rs72648247	0.0027	0.0027	0.0027	0.0028	0.0068	0.0027	0.0026	0.0051	0.0047	0.0005	0.0009	0.0044	0	0.0012	0.0068	0.0028	0.0021	0.0052	0.0020	0.0020	0.0018	0.0022	0.0058	0.0018	0.0017	0.0041	0.0036	0.0004	0	0.0007	0.0026	0	0.0018	0.0136	0.0031	0.0019	0.0058	0.005	0.63226	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	4.235	0.97980	H	0.36	0.57880	T	-5.85	0.93440	D	0.455	0.66787	0.361	0.88502	D	0.542	0.83122	D	9	0.008055747	0.00183	T	0.071344	0.71244	D	0.520	0.79583	.	.	0.455081427078	0.45129	.	.	0.466644225527	0.46063	0.615165174007	0.55046	T	.	.	.	-0.30756	0.07964	T	-0.21223	0.53482	T	0.0791858763826152	0.09881	T	0.889011	0.62852	D	.	.	.	.	.	.	.	.	-9.857	0.73051	D	.	.	0.980	0.91161	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.775189	0.36435	20.2	0.91061175991936283	0.20313	0.99413	0.95711	D	AEFBI	0.909721	0.86672	D	1.04884838020579	0.97063	15.53342	0.936449665253666	0.96974	15.40516	0.999999999999984	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.73	5.73	0.89730	8.146000	0.89551	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.807000	0.38039	0.0:0.0:1.0:0.0	20.279	0.98503	520	0.74355	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005539	0.005051	0.002717	0.002924	0.050000	0.000000	0.009146	0.007576	0.07143	1504.63	35	chr2	178549450	.	G	A	1504.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.324;DP=402;ExcessHet=0;FS=1.482;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.485;SOR=0.519	GT:AD:DP:GQ:PL	0/1:74,57:131:99:1515,0,1996	6	0	1	0
chr2	178647041	178647044	TATA	-	intronic	TTN	.	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	13	40	104	7	62	180	0.59596	.	.	.	189623	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_provided	MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0482	0.1273	0.1042	0.0096	0.0474	0.0241	0	0.0491	0.0016235	251	154602	rs1459735441	0.0244	0.0273	0.0245	0.0244	0.0813	0.0241	0.0239	0.0771	0.0754	0.0813	0.0606	0.0341	0.0286	0.0250	0.0346	0.0212	0.0322	0.0376	0.0001	0.0008	0.0001	0.0002	0.0005	9.801e-05	8.172e-05	9.488e-05	5.662e-05	7.556e-05	0	0.0003	0	0	0.0009	0	3.086e-05	0.0010	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	180.97	5	chr2	178647040	.	GTATA	G	180.97	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.524;DP=43;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.46;ReadPosRankSum=0;SOR=0.784	GT:AD:DP:GQ:PL	0/1:7,2:9:63:63,0,288	5	0	1	1
chr2	178664014	178664014	C	G	splicing	TTN	NM_001267550:exon169:c.36364+1G>C	.	.	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	4	1517	1	0	0	1	0.000329489	1.0000	0.946	YES	1923586	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_provided	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	2.598e-05	0	0	0.0004	0	0	0	0	1.94e-05	3	154602	rs777040601	3.012e-05	3.01e-05	3.405e-05	2.614e-05	0.0009	2.283e-05	2.033e-05	0.0007	0.0006	0	8.95e-05	0	0.0009	0	0	8.995e-07	3.314e-05	0	6.58e-06	6.569e-06	0	1.347e-05	6.568e-05	0	0	.	.	0	0	6.568e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0417673	0.57277	T	0.131087	0.78962	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.396386	0.47047	22.4	0.97431724109905393	0.33931	0.95467	0.64837	D	AEFBI	.	.	.	0.903299589625438	0.91920	11.13562	0.709429309844885	0.83095	7.932574	0.227537235761436	0.18428	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.964171	0.67635	5.28	5.28	0.74118	0.078000	0.14615	.	.	0.599000	0.40250	0.040000	0.20979	1.000000	0.68203	0.350000	0.25659	0.0:0.8678:0.1322:0.0	16.297	0.82611	419	0.81524	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	892.63	37	chr2	178664014	.	C	G	892.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.548;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.135;SOR=0.693	GT:AD:DP:GQ:PL	0/1:35,35:70:99:903,0,936	6	0	1	0
chr2	178684980	178684980	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon127:c.C28748T:p.A9583V,TTN:NM_001256850:exon128:c.C31529T:p.A10510V,TTN:NM_001267550:exon130:c.C32480T:p.A10827V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	56033	Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|not_specified|TTN-related_disorder|not_provided	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.100	0.0194785168333	0.0016	0.000798722	0.0024	0.0002	0.0005	0	0.0006	0.0042	0	0.0010	0.0016106	249	154602	rs72650030	0.0021	0.0021	0.0021	0.0020	0.0033	0.0020	0.0020	0.0024	0.0024	0.0004	0.0003	0.0010	0	0.0002	0.0033	0.0025	0.0013	0.0010	0.0013	0.0013	0.0013	0.0013	0.0025	0.0012	0.0011	0.0022	0.0021	0.0004	0	0.0003	0.0009	0	9.429e-05	0	0.0025	0.0009	0.0012	0.773	0.03354	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999999	0.58761	D	.	.	.	-0.07	0.63738	T	-0.68	0.19509	N	0.062	0.08088	-1.0753	0.08287	T	0.086	0.33382	T	9	0.004187286	0.00083	T	0.019479	0.41853	T	0.100	0.28662	.	.	0.158396225186	0.15383	.	.	0.0831900980906	0.09381	0.292435526848	0.09278	T	.	.	.	-0.525139	0.00410	T	-0.524768	0.19813	T	0.0110077593060059	0.00159	T	0.592841	0.28377	T	.	.	.	.	.	.	.	.	-1.375	0.01601	T	.	.	0.082	0.08851	B	.;.;.;.	.;.;.;.	2.063001	0.26232	17.04	0.95815316458911215	0.27896	0.32983	0.24718	N	AEFBI	0.094928	0.19187	N	-0.553443693941343	0.20376	1.073672	-0.372022992503651	0.25835	1.423	1.49686597091072E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	2.08	0.26079	0.804000	0.26758	.	.	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.999000	0.91618	0.4318:0.0:0.4404:0.1278	5.454	0.15876	390	0.83257	.;.;.;.	.	.	.	.	.	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	0.000505	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.07143	1053.45	35	chr2	178684980	.	G	A	1053.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.434;DP=309;ExcessHet=0;FS=0.692;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.627;SOR=0.591	GT:AD:DP:GQ:PL	0/1:72,48:120:99:1064,0,1702	6	0	1	0
chr2	178698917	178698917	A	-	intronic	TTN	.	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	602	811	65	11	33	120	0.050907	.	.	.	284061	Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Hypertrophic_cardiomyopathy|not_specified	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3475	0.2323	0.3611	0.3926	0.3437	0.3114	0.3652	0.4068	0.0002587	40	154602	rs368277751	0.2822	0.2893	0.2800	0.2846	0.3367	0.2814	0.2810	0.3308	0.3284	0.3185	0.3091	0.3275	0.3367	0.3028	0.2767	0.2747	0.2980	0.3072	0.0042	0.0065	0.0033	0.0052	0.0055	0.0038	0.0037	0.0042	0.0038	0.0019	0	0.0055	0.0081	0.0039	0.0128	0	0.0043	0.0037	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	139.43	6	chr2	178698916	.	TA	T	139.43	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.674;DP=62;ExcessHet=1.383;FS=1.824;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=6.06;ReadPosRankSum=0.98;SOR=0.26	GT:AD:DP:GQ:PL	0/1:4,4:8:71:80,0,71	4	0	2	1
chr2	178734746	178734746	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon48:c.G11446C:p.V3816L,TTN:NM_001256850:exon49:c.G14227C:p.V4743L,TTN:NM_001267550:exon51:c.G15178C:p.V5060L	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	34	3	0	40	0.013289	.	.	.	55764	Supraventricular_tachycardia|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|not_provided|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tip-toe_gait|TTN-related_myopathy|Cardiomyopathy|Tibial_muscular_dystrophy|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0100175,MedGen:CN294812|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.236	.	0.0028	0.00339457	0.0035	0.0003	0.0006	0	0.0014	0.0039	0.0045	0.0086	0.0034864	539	154602	rs72648929	0.0033	0.0033	0.0031	0.0034	0.0099	0.0032	0.0032	0.0079	0.0077	0.0005	0.0007	0.0097	0.0001	0.0013	0.0099	0.0031	0.0032	0.0084	0.0024	0.0023	0.0022	0.0026	0.0089	0.0022	0.0021	0.0068	0.0061	0.0004	0	0.0006	0.0095	0.0004	0.0019	0	0.0034	0.0024	0.0089	0.586	0.05881	T	.	.	.	0.708	0.42036	P	0.387	0.44046	B	.	.	.	.	0.878587	0.81001	D	.	.	.	-0.26	0.67187	T	-1.27	0.31981	N	0.152	0.18920	-0.5974	0.64923	T	0.234	0.60112	T	9	0.0074189305	0.00169	T	.	.	.	0.236	0.53931	.	.	0.366085729538	0.36220	.	.	0.193963078417	0.21732	0.489897310734	0.37424	T	.	.	.	-0.406531	0.02097	T	-0.351743	0.39005	T	0.0429511013410394	0.04229	T	0.818618	0.50455	T	.	.	.	.	.	.	.	.	-4.406	0.29921	T	.	.	0.395	0.59302	A	.;.;.;.	.;.;.;.	2.461362	0.31708	18.82	0.45163212625536364	0.03525	0.98803	0.87055	D	AEFBI	0.817956	0.73932	D	0.12769802415775	0.47759	2.997087	0.163325034344203	0.47853	3.009335	0.999999999999971	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	6.166000	0.71739	.	.	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.332000	0.25247	0.0:1.0:0.0:0.0	19.757	0.96293	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	6814.44	36	chr2	178734746	.	C	G	6814.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.4;DP=835;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.666;SOR=0.647	GT:AD:DP:GQ:PL	0/1:326,286:612:99:6825,0,7420	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	0/1:9,33:42:99:792,0,115	4	0	2	1
chr2	222221236	222221236	G	T	exonic	PAX3	.	nonsynonymous SNV	PAX3:NM_001127366:exon6:c.C941A:p.T314K,PAX3:NM_181457:exon6:c.C944A:p.T315K,PAX3:NM_181458:exon6:c.C944A:p.T315K,PAX3:NM_181459:exon6:c.C944A:p.T315K,PAX3:NM_181460:exon6:c.C944A:p.T315K,PAX3:NM_181461:exon6:c.C944A:p.T315K	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	2	1456	62	2	0	66	0.0221625	.	.	.	215772	not_specified|Waardenburg_syndrome_type_1|Craniofacial-deafness-hand_syndrome|Waardenburg_syndrome|not_provided|Congenital_diaphragmatic_hernia	MedGen:CN169374|MONDO:MONDO:0008670,MedGen:C1847800,OMIM:193500,Orphanet:894|MONDO:MONDO:0007395,MedGen:C1852510,OMIM:122880,Orphanet:1529|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.396	.	0.0278	0.0131789	0.0266	0.0065	0.0143	0	0.0369	0.0362	0.0297	0.0193	0.0257888	3987	154602	rs2234675	0.0367	0.0368	0.0370	0.0365	0.0418	0.0365	0.0364	0.0415	0.0413	0.0055	0.0143	0.0223	2.519e-05	0.0381	0.0161	0.0418	0.0317	0.0205	0.0253	0.0254	0.0260	0.0246	0.0402	0.0246	0.0244	0.0390	0.0385	0.0065	0.0318	0.0133	0.0248	0.0002	0.0371	0.0170	0.0402	0.0199	0.0178	0.008	0.58626	D	0.172	0.38450	T	0.837	0.46346	P	0.559	0.49531	P	0.000003	0.62929	D	0.103312	0.999995	0.58761	D	1.83	0.48079	L	-3.38	0.94260	D	-2.61	0.56144	D	0.274	0.55453	0.072	0.83665	D	0.491	0.80688	T	10	0.005897939	0.00132	T	.	.	.	0.396	0.71084	.	.	.	.	0.48715641716572666	0.48635	0.790193635219	0.65741	0.597164154053	0.52505	T	0.596076	0.86986	D	-0.15255	0.27912	T	0.0424034	0.73084	D	0.031317736279888	0.02196	T	0.951205	0.81406	D	0.2982129	0.52744	0.5293505	0.72806	0.3795597	0.59285	0.5293505	0.72807	-7.793	0.68051	D	0.2321689578727162	0.31422	0.678	0.72054	P	.;.;.;.;.;.	.;.;.;.;.;.	4.958886	0.81980	27.7	0.98888459625850189	0.47966	0.99067	0.90742	D	AEFBI	0.957363	0.97650	D	0.519257826346794	0.68229	5.188516	0.640730610094269	0.77921	6.773582	0.999999999923246	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.06	6.06	0.98340	9.602000	0.97623	11.920000	0.99804	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	20.621	0.99492	826	0.39940	.;.;.;.;.;.	.	.	.	.	.	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	0.016616	0.010101	0.013587	0.008772	0.050000	0.008621	0.030488	0.015152	0.08333	376.27	28	chr2	222221236	.	G	T	376.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.176;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=0.014;SOR=0.593	GT:AD:DP:GQ:PL	0/1:22,18:40:99:386,0,551	5	0	1	1
chr2	227054742	227054742	T	A	intronic	COL4A4	.	.	.	Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, familial benign (3)	10	1436	70	6	0	82	0.027759	0	0	.	250602	Autosomal_dominant_Alport_syndrome|Benign_familial_hematuria|not_provided|Focal_segmental_glomerulosclerosis|not_specified|Autosomal_recessive_Alport_syndrome|Alport_syndrome	MONDO:MONDO:0007086,MedGen:C5882663,OMIM:104200,Orphanet:63,Orphanet:88918|MONDO:MONDO:0957317,MedGen:C0241908,OMIM:PS141200|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:CN169374|MONDO:MONDO:0008762,MedGen:C4746745,OMIM:203780,Orphanet:63,Orphanet:88919|MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0146	0.00519169	0.0123	0.0026	0.0097	0	0.0032	0.0189	0.0145	0.0037	0.0117786	1821	154602	rs1800519	0.0152	0.0152	0.0153	0.0151	0.0372	0.0150	0.0149	0.0330	0.0314	0.0042	0.0106	0.0132	0.0001	0.0029	0.0372	0.0177	0.0149	0.0036	0.0117	0.0117	0.0122	0.0112	0.0191	0.0113	0.0111	0.0183	0.0179	0.0028	0.0033	0.0156	0.0150	0.0004	0.0022	0.0272	0.0191	0.0114	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	239.83	14	chr2	227054742	.	T	A	239.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.31;DP=151;ExcessHet=0;FS=1.909;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=-0.501;SOR=0.283	GT:AD:DP:GQ:PL	0/1:16,10:26:99:250,0,473	6	0	1	0
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5822.12	57	chr2	233681881	.	T	G	5822.12	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.572;DP=501;ExcessHet=3.6764;FS=4.316;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.211;SOR=0.989	GT:AD:DP:GQ:PL	0/1:51,44:95:99:999,0,1270	1	1	5	0
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	0/1:2,2:4:63:63,0,63	3	0	3	1
chr2	240757423	240757423	-	TCC	exonic	KIF1A	.	nonframeshift insertion	KIF1A:NM_001379632:exon26:c.2702_2703insGGA:p.E900_D901insE,KIF1A:NM_001379633:exon26:c.2726_2727insGGA:p.E908_D909insE,KIF1A:NM_001379642:exon26:c.2726_2727insGGA:p.E908_D909insE,KIF1A:NM_001379645:exon26:c.2726_2727insGGA:p.E908_D909insE,KIF1A:NM_001244008:exon27:c.2753_2754insGGA:p.E917_D918insE,KIF1A:NM_001379631:exon27:c.2828_2829insGGA:p.E942_D943insE	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	488454	not_provided|not_specified|KIF1A-related_disorder|KIF1A_related_neurological_disorder	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0700055,MedGen:CN312623	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0130	0.0164	0.0246	0.0066	0.0087	0.0135	0.0122	0.0129	0.0005379	14	26028	rs758125020	0.0169	0.0158	0.0169	0.0168	0.0213	0.0167	0.0166	0.0200	0.0194	0.0213	0.0117	0.0105	0.0015	0.0162	0.0188	0.0176	0.0157	0.0168	0.0178	0.0170	0.0184	0.0171	0.0199	0.0172	0.0170	0.0187	0.0183	0.0199	0	0.0119	0.0163	0.0017	0.0186	0.0110	0.0193	0.0121	0.0179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	11892.5	76	chr2	240757423	.	A	ATCC	11892.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=673;ExcessHet=4.7409;FS=0.563;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=25.58;ReadPosRankSum=0.892;SOR=0.63	GT:AD:DP:GQ:PL	0/1:39,35:74:99:1235,0,1422	6	0	1	0
chr3	39383433	39383433	G	A	UTR5	SLC25A38	NM_017875:c.-292G>A;NM_001354798:c.-292G>A	.	.	Anemia, sideroblastic, 2, pyridoxine-refractory, Autosomal recessive	392	1125	5	0	0	5	0.00221729	.	.	.	294419	not_provided|X-linked_sideroblastic_anemia_1|Sideroblastic_anemia_2	MedGen:C3661900|MONDO:MONDO:0020721,MedGen:C4551511,OMIM:300751,Orphanet:75563|MONDO:MONDO:0008785,MedGen:C4225425,OMIM:205950,Orphanet:260305	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00599042	.	.	.	.	.	.	.	.	0.0025355	392	154602	rs142441701	0.0137	0.0147	0.0137	0.0138	0.0187	0.0134	0.0133	0.0182	0.0180	0.0034	0.0069	0.0029	5.245e-05	0.0071	0.0007	0.0187	0.0113	0.0089	0.0113	0.0113	0.0122	0.0104	0.0185	0.0109	0.0107	0.0176	0.0173	0.0033	0.0066	0.0104	0.0029	0	0.0092	0.0034	0.0185	0.0123	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	55.79	.	chr3	39383433	.	G	A	55.79	.	AC=2;AF=0.2;AN=10;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=27.89;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:68,6,0	4	1	0	2
chr3	49722056	49722056	C	T	exonic	GMPPB	.	nonsynonymous SNV	GMPPB:NM_013334:exon8:c.G860A:p.R287Q,GMPPB:NM_021971:exon8:c.G860A:p.R287Q	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, Autosomal recessive	429	1092	1	0	0	1	0.000457666	.	.	YES	75126	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2T|Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B14|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A14|Abnormality_of_the_musculature|GMPPB-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014142,MedGen:C4518000,OMIM:615352,Orphanet:363623|MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351|MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350,Orphanet:588|Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.188	0.120180627272	0.0002	.	0.0002	0	0.0002	0.0001	0	0.0003	0	0	0.0001876	29	154602	rs202160208	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0001	7.541e-05	0	0.0001	0.0054	2.519e-05	0	0.0005	7.554e-05	0.0004	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	8.876e-05	4.825e-05	0	0	0.0035	0	0	0	0.0002	0.0010	0	0.941	0.03060	T	0.578	0.09205	T	0.003	0.17332	B	0.008	0.13708	B	0.000001	0.62929	D	0.055778	0.985373	0.81001	D	-0.92	0.01311	N	-1.03	0.76430	T	0.14	0.05405	N	0.804	0.79986	-0.9271	0.44559	T	0.122	0.42357	T	10	0.014596343	0.00307	T	0.120181	0.80066	D	0.188	0.46444	.	.	0.756562400578	0.75435	0.6669756657282992	0.66635	0.640746392793	0.57700	0.477246969938	0.35678	T	0.504413	0.82350	D	-0.302679	0.08410	T	-0.354481	0.38690	T	0.030708315807	0.02100	T	0.982502	0.94093	D	0.10202696	0.24104	0.05517497	0.09629	0.104270495	0.24648	0.04905508	0.07417	-5.681	0.47874	T	0.0975306387506497	0.06872	0.121	0.26514	B	.;.;.	.;.;.	3.877928	0.56346	23.7	0.91670247582090048	0.20961	0.74797	0.36599	D	AEFDBCI	0.323425	0.42562	N	-0.339047270605234	0.27676	1.520424	-0.0740276751929228	0.36468	2.122674	0.999999999935642	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.98	4.03	0.46115	4.170000	0.58021	5.858000	0.50403	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.7387:0.0:0.2613	4.624	0.11853	1	0.99630	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1511.44	35	chr3	49722056	.	C	T	1511.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=315;ExcessHet=0;FS=0.662;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-1.412;SOR=0.779	GT:AD:DP:GQ:PL	0/1:66,60:126:99:1522,0,1597	6	0	1	0
chr3	50366072	50366072	T	C	exonic	CACNA2D2	.	nonsynonymous SNV	CACNA2D2:NM_001005505:exon32:c.A2801G:p.Q934R,CACNA2D2:NM_001291101:exon32:c.A2594G:p.Q865R,CACNA2D2:NM_006030:exon32:c.A2801G:p.Q934R,CACNA2D2:NM_001174051:exon33:c.A2822G:p.Q941R	.	423	1096	1	2	0	5	0.00227583	.	.	.	239254	Developmental_and_epileptic_encephalopathy|Cerebellar_atrophy_with_seizures_and_variable_developmental_delay|Inborn_genetic_diseases	MONDO:MONDO:0100620,MedGen:C5779964|MONDO:MONDO:0032788,MedGen:C5193132,OMIM:618501|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.806	0.163911981248	7.7e-05	0.000599042	0.0004	0	0.0004	0	0	0.0003	0	0.0011	0.0003493	54	154602	rs191208192	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	5.974e-05	0.0006	0.0005	0	0	0.0010	0.0002	0.0004	0.0009	0.0003	0.0003	0.0002	0.0004	0.0010	0.0002	0.0002	0.0005	0.0004	2.408e-05	0	0.0008	0.0017	0	0	0	0.0003	0.0014	0.0010	0.0	0.91255	D	0.053	0.47336	T	0.999	0.77913	D	0.983	0.75793	D	0.000070	0.52346	D	0.132059	0.998541	0.45064	D	2.97	0.85306	M	-0.73	0.73100	T	-3.04	0.62863	D	0.961	0.97643	-0.0114	0.82020	T	0.424	0.76816	T	10	0.4275589	0.57275	T	0.163912	0.84314	D	0.806	0.93699	.	.	0.917962880508	0.91713	0.9794021129118513	0.97931	1.41931001334	0.85588	0.659374713898	0.61319	T	0.184262	0.77206	T	0.0955439	0.63808	D	0.314025	0.88835	D	0.145676993046513	0.16754	T	0.956054	0.83312	D	0.7710684	0.82113	0.8093311	0.88858	0.7710684	0.82114	0.8093311	0.88859	-9.98	0.74026	D	.	.	0.574	0.72692	P	.;.;.;.;.;.	.;.;.;.;.;.	4.690340	0.75145	26.3	0.99824127955571129	0.90677	0.98540	0.83876	D	AEFDGBI	0.917195	0.88445	D	0.752043955480316	0.83036	7.91359	0.718553823079579	0.83790	8.114556	0.999999999996812	0.74766	0.766844	0.99359	0	0.609123	0.50646	0	0.851219	0.99655	0	0.620976	0.48614	0	.	.	5.21	5.21	0.72005	7.578000	0.81790	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.345	0.60008	2	0.99499	Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;.;.;.;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	771.83	34	chr3	50366072	.	T	C	771.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.31;DP=238;ExcessHet=0;FS=0.983;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.377;SOR=0.504	GT:AD:DP:GQ:PL	0/1:28,33:61:99:782,0,699	6	0	1	0
chr3	128879647	128879647	-	TAAG	UTR5	ACAD9	NM_014049:c.-45_-44insTAAG	.	.	Mitochondrial complex I deficiency due to ACAD9 deficiency, Autosomal recessive	17	1461	38	6	0	50	0.0168237	.	.	.	16057	not_provided|not_specified|Acyl-CoA_dehydrogenase_9_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126,Orphanet:99901	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0449	0.077476	0.0416	0.1261	0.0109	0.0674	0.0440	0.0134	0.0373	0.1107	0.0247426	644	26028	rs1299939585	0.0210	0.0210	0.0191	0.0229	0.1318	0.0208	0.0207	0.1286	0.1273	0.1318	0.0127	0.0198	0.0508	0.0409	0.0117	0.0093	0.0293	0.1018	0.0497	0.0498	0.0479	0.0515	0.1237	0.0487	0.0483	0.1209	0.1198	0.1237	0	0.0239	0.0150	0.0588	0.0384	0.0102	0.0101	0.0308	0.1114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1104.45	30	chr3	128879647	.	C	CTAAG	1104.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.98;DP=239;ExcessHet=0;FS=1.092;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.53;ReadPosRankSum=-0.642;SOR=0.956	GT:AD:DP:GQ:PL	0/1:34,29:63:99:1115,0,1325	6	0	1	0
chr3	149141200	149141200	-	TTTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	0	74	22	0	130	152	0.129412	.	.	.	293178	Hermansky-Pudlak_syndrome|not_provided	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0744	0.0191	0.0463	0.0847	0.0760	0.0775	0.0748	0.1106	0.0070309	183	26028	rs111598115	0.1260	0.1391	0.1267	0.1253	0.1355	0.1255	0.1253	0.1333	0.1328	0.0161	0.0544	0.0660	0.1337	0.1271	0.0493	0.1336	0.1139	0.1355	0.1620	0.1643	0.1603	0.1639	0.2658	0.1603	0.1596	0.2538	0.2490	0.0392	0.1806	0.1516	0.1322	0.2658	0.2489	0.1204	0.2160	0.1362	0.2525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	9268.9	243	chr3	149141200	.	C	CTTTTT	9268.9	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.596;DP=1915;ExcessHet=4.7409;FS=1.193;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=1.04;SOR=0.787	GT:AD:DP:GQ:PL	0/1:146,44:240:99:1881,0,6146	6	0	1	0
chr3	165773492	165773492	C	T	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon4:c.G1699A:p.A567T	Apnea, postanesthetic (3)	44	964	416	98	0	612	0.240945	.	.	YES	28259	Deficiency_of_butyrylcholinesterase|not_specified|not_provided|Butyrylcholinesterase_activity	MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.136	.	0.1977	0.158546	0.1891	0.1966	0.1155	0.1183	0.1714	0.2109	0.1991	0.1939	0.179157	27698	154602	rs1803274	0.1952	0.1965	0.1955	0.1949	0.2300	0.1946	0.1944	0.2197	0.2156	0.1919	0.1175	0.1779	0.1388	0.1691	0.2300	0.2027	0.1945	0.1868	0.1828	0.1828	0.1846	0.1809	0.1978	0.1810	0.1802	0.1950	0.1939	0.1886	0.2121	0.1383	0.1763	0.1173	0.1653	0.2007	0.1978	0.1835	0.1677	0.093	0.31532	T	0.15	0.37872	T	0.001	0.07471	B	0.012	0.16012	B	0.019382	0.27268	N	0.339910	0.933173	0.27002	P	2.455	0.71248	M	-0.18	0.77336	T	-0.52	0.38151	N	0.036	0.01068	-1.0170	0.24690	T	0.001	0.00222	T	9	0.0018072128	0.00024	T	.	.	.	0.136	0.36778	.	.	.	.	0.26196509411827273	0.26109	0.0146452542494	0.01391	0.319616317749	0.13362	T	0.358518	0.74836	T	-0.467858	0.00877	T	-0.301002	0.44619	T	0.0211996116972123	0.00822	T	0.774123	0.42528	T	0.22133149	0.44708	0.23066719	0.48175	0.23999383	0.46897	0.20989761	0.45352	-5.147	0.38398	T	.	.	0.085	0.16538	B	.;.	.;.	3.292023	0.45157	22.1	0.99632838182915928	0.76142	0.91322	0.53300	D	AEFI	0.801494	0.72719	D	-0.00633166657305249	0.41567	2.488702	0.123040286207381	0.45729	2.831012	0.00173072517578264	0.08818	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.03	4.14	0.47821	4.438000	0.59704	2.697000	0.34132	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9138:0.0:0.0862	11.972	0.52358	900	0.24599	Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain;Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain	BCHE	Heart_Atrial_Appendage	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.201010	0.212121	0.191576	0.211310	0.250000	0.146552	0.240854	0.196970	0.3571	2228.29	34	chr3	165773492	.	C	T	2228.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.329;DP=251;ExcessHet=0.4813;FS=7.96;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.542;SOR=1.262	GT:AD:DP:GQ:PL	0/1:22,25:47:99:583,0,521	3	1	3	0
chr3	170998041	170998041	G	A	exonic	SLC2A2	.	synonymous SNV	SLC2A2:NM_001278658:exon10:c.C1080T:p.F360F,SLC2A2:NM_001278659:exon10:c.C918T:p.F306F,SLC2A2:NM_000340:exon11:c.C1437T:p.F479F	Fanconi-Bickel syndrome, Autosomal recessive	2	712	648	160	0	968	0.404682	.	.	.	135795	not_specified|Fanconi-Bickel_syndrome|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|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	.	.	.	.	.	.	.	.	.	.	0.3964	0.372604	0.3159	0.5942	0.2813	0.2418	0.2678	0.3020	0.3113	0.2840	0.310611	48021	154602	rs5398	0.2950	0.2951	0.2967	0.2933	0.6047	0.2943	0.2940	0.5978	0.5949	0.6047	0.2907	0.3167	0.2228	0.2633	0.3290	0.2893	0.3178	0.2786	0.3751	0.3754	0.3789	0.3713	0.5947	0.3726	0.3715	0.5885	0.5859	0.5947	0.2429	0.3398	0.3292	0.2307	0.2443	0.3151	0.2923	0.3645	0.2732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.367440	0.439394	0.398098	0.333333	0.450000	0.379310	0.328221	0.310606	0.2857	4823.02	38	chr3	170998041	.	G	A	4823.02	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.866;DP=381;ExcessHet=0.0921;FS=2.971;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=18.41;ReadPosRankSum=0.332;SOR=0.532	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2259,222,0	4	1	2	0
chr4	657499	657499	G	A	intronic	PDE6B	.	.	.	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	2	1476	20	0	24	44	0.00672948	0.9999	0.774	.	295399	not_provided|Retinitis_pigmentosa|Congenital_stationary_night_blindness_autosomal_dominant_2	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0006	0.00159744	0.0017	9.93e-05	0.0014	0.0001	0	0.0009	0.0049	0.0073	0.0013454	208	154602	rs201623488	0.0008	0.0008	0.0006	0.0011	0.0067	0.0008	0.0008	0.0062	0.0061	9.069e-05	0.0005	0.0047	2.52e-05	0	0.0035	0.0003	0.0014	0.0067	0.0007	0.0007	0.0004	0.0009	0.0095	0.0006	0.0005	0.0073	0.0065	7.367e-05	0	0.0006	0.0024	0	0	0.0104	0.0004	0.0015	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1202.44	34	chr4	657499	.	G	A	1202.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.16;DP=263;ExcessHet=0;FS=0.983;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-0.138;SOR=0.495	GT:AD:DP:GQ:PL	0/1:31,45:76:99:1213,0,747	6	0	1	0
chr4	670239	670239	-	T	UTR3	PDE6B	NM_000283:c.*132_*133insT;NM_001145291:c.*132_*133insT;NM_001379247:c.*132_*133insT;NM_001379246:c.*132_*133insT;NM_001145292:c.*132_*133insT;NM_001350154:c.*25_*26insT;NM_001350155:c.*25_*26insT	.	.	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299220	Congenital_Stationary_Night_Blindness,_Dominant|not_provided|Retinitis_Pigmentosa,_Recessive	MedGen:CN239263|MedGen:CN517202|MedGen:CN239466	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0355	0.0536	0.0324	0.0244	0.0022	0.0236	0.0125	0.0772	0.0001537	4	26028	rs775283243	0.2040	0.2154	0.2059	0.2023	0.2177	0.2032	0.2028	0.2121	0.2117	0.2177	0.1879	0.2013	0.1159	0.1601	0.1603	0.2131	0.2013	0.1690	0.1202	0.1373	0.1255	0.1144	0.1627	0.1186	0.1180	0.1591	0.1577	0.1627	0.0849	0.0823	0.1257	0.0125	0.0550	0.1120	0.1261	0.1089	0.0417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	48.1	12	chr4	670239	.	A	AT	48.1	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.967;DP=62;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:2,1:3:11:11,0,32	3	0	2	2
chr4	5628743	5628743	-	AA	intronic	EVC2	.	.	.	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	298770	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|not_specified|not_provided	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0740815	0.0492	0.1960	0.0298	0	0.0759	0.0425	0.0466	0.0065	0.0013447	35	26028	rs1169314367	0.0404	0.0370	0.0414	0.0393	0.1983	0.0401	0.0400	0.1942	0.1925	0.1983	0.0327	0.0253	8.361e-05	0.0654	0.0645	0.0384	0.0444	0.0075	0.0913	0.0915	0.0907	0.0919	0.2185	0.0900	0.0895	0.2147	0.2132	0.2185	0.0629	0.0520	0.0211	0.0002	0.0789	0.0753	0.0413	0.0693	0.0090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3164.38	33	chr4	5628743	.	T	TAA	3164.38	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=333;ExcessHet=0.0921;FS=1.417;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.29;ReadPosRankSum=-0.973;SOR=0.863	GT:AD:DP:GQ:PL	0/1:0,28:64:99:1820,897,1232	6	0	1	0
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	306	693	523	0	1739	0.739685	.	.	.	54598	WFS1-Related_Spectrum_Disorders|Wolfram_syndrome_1|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided|not_specified	MedGen:CN239410|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5531	0.641573	0.6245	0.4646	0.7443	0.9358	0.5720	0.5907	0.6355	0.6352	0.616195	95265	154602	rs1801206	0.6051	0.6051	0.6041	0.6061	0.9578	0.6040	0.6036	0.9497	0.9464	0.4555	0.7260	0.6765	0.9578	0.5715	0.5902	0.5890	0.6193	0.6353	0.5756	0.5759	0.5734	0.5779	0.9332	0.5724	0.5711	0.9111	0.9021	0.4596	0.3890	0.6659	0.6603	0.9332	0.5667	0.6156	0.5925	0.6087	0.6444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.592145	0.550505	0.592391	0.529240	0.600000	0.594828	0.612805	0.643939	0.4286	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	0/1:129,98:227:99:2502,0,3680	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	0/1:90,99:189:99:2497,0,2094	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	0/1:39,31:70:99:783,0,907	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	1/1:0,186:186:99:6200,558,0	0	4	2	1
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	0/1:99,9:108:80:80,0,4129	5	0	2	0
chr5	13886136	13886138	AAA	-	intronic	DNAH5	.	.	.	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	.	295553	Primary_ciliary_dyskinesia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1980	0.1530	0.2345	0.0616	0.3012	0.2362	0.2935	0.0933	0.0001229	19	154602	rs201639682	0.2197	0.2090	0.2202	0.2191	0.2636	0.2189	0.2187	0.2584	0.2562	0.1733	0.2636	0.2290	0.0664	0.2132	0.2468	0.2261	0.2174	0.2025	0.2129	0.2043	0.2115	0.2145	0.2821	0.2108	0.2099	0.2742	0.2710	0.1491	0.2864	0.2821	0.2820	0.0620	0.2497	0.2924	0.2356	0.2207	0.2146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2135.94	8	chr5	13886135	.	CAAA	C	2135.94	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.526;DP=164;ExcessHet=0.7136;FS=1.337;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=30.08;ReadPosRankSum=0.992;SOR=1.099	GT:AD:DP:GQ:PL	0/1:0,19:26:64:852,92,64	3	0	3	1
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	0/1:18,12:30:99:.:.:310,0,721:.	1	1	4	1
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	0/1:40,48:88:99:1078,0,966	1	2	4	0
chr5	148994601	148994604	TGGT	-	UTR3	SH3TC2	NM_024577:c.*10110_*10107delACCA	.	.	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	297904	Charcot-Marie-Tooth_disease_type_4|not_provided|Mononeuropathy_of_the_Median_Nerve	MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MedGen:C3661900|MedGen:C3150597	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003381	88	26028	rs72253703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4483	0.4501	0.4446	0.4524	0.6184	0.4454	0.4442	0.5995	0.5919	0.2520	0.5679	0.4997	0.5045	0.6184	0.6181	0.4930	0.5058	0.4646	0.5100	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	168.35	2	chr5	148994600	.	ATGGT	A	168.35	.	AC=2;AF=0.333;AN=6;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=28.82;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0	2	1	0	4
chr5	177093242	177093242	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_001354984:exon9:c.G1162A:p.G388R,FGFR4:NM_002011:exon9:c.G1162A:p.G388R,FGFR4:NM_213647:exon9:c.G1162A:p.G388R	.	415	588	404	115	0	634	0.350276	.	.	.	31365	Cancer_progression_and_tumor_cell_motility|See_cases|FGFR4-related_disorder|not_specified	MedGen:C4016099|.|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	.	0.2423	0.299521	0.3210	0.1323	0.4337	0.4495	0.3358	0.3029	0.3112	0.3580	0.309718	47883	154602	rs351855	0.3062	0.3062	0.3051	0.3073	0.4369	0.3054	0.3051	0.4315	0.4292	0.1286	0.4070	0.3161	0.4369	0.3292	0.2908	0.2980	0.3088	0.3500	0.2682	0.2685	0.2646	0.2721	0.4490	0.2660	0.2651	0.4337	0.4275	0.1329	0.2719	0.3301	0.3207	0.4490	0.3254	0.2245	0.3048	0.2718	0.3663	0.12	0.27904	T	0.358	0.17064	T	0.998	0.73220	D	0.7	0.54153	P	0.005687	0.32589	N	0.316526	0.0177303	0.81001	P	1.5	0.37844	L	-1.67	0.82806	D	-0.16	0.09460	N	0.469	0.50508	-0.8840	0.49440	T	0.000	0.00011	T	9	0.0041104257	0.00081	T	.	.	.	0.519	0.79522	0.255	0.19533	.	.	0.7522868110974598	0.75175	0.827512574282	0.67481	0.476968705654	0.35640	T	0.259171	0.63041	T	-0.237093	0.15723	T	0.0304758	0.72308	D	0.0179416488997758	0.00520	T	0.631737	0.24648	T	0.10127284	0.23920	0.10703784	0.25763	0.10127284	0.23920	0.1078294	0.25965	-4.362	0.29037	T	.	.	0.313	0.60805	B	.;.	.;.	4.760676	0.76968	26.6	0.99879957222399041	0.95653	0.97395	0.74477	D	AEFDGBCI	0.850981	0.76783	D	0.164708132140378	0.49509	3.150608	0.211651071616305	0.50492	3.240753	0.999999535481989	0.74766	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	4.29	4.29	0.50359	6.850000	0.75217	6.632000	0.56155	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0906:0.0:0.9094:0.0	11.212	0.48035	835	0.38313	.;.	FGFR4|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|RGS14|PRELID1|FGFR4|RGS14|FGFR4|RGS14|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|UIMC1|RGS14|FGFR4|FGFR4|PRELID1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood	.	.	rs351855	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.283988	0.252525	0.250000	0.336257	0.400000	0.275862	0.240854	0.363636	0.2857	3724.17	33	chr5	177093242	.	G	A	3724.17	.	AC=4;AF=0.286;AN=14;BaseQRankSum=2.19;DP=298;ExcessHet=0.0921;FS=1.236;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=20.35;ReadPosRankSum=-0.271;SOR=0.764	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2401,216,0	4	1	2	0
chr6	6174633	6174633	G	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon12:c.C1694T:p.P565L	Factor XIIIA deficiency, Autosomal recessive	4	868	532	118	0	768	0.306709	.	.	.	252448	not_provided|Factor_XIII,_A_subunit,_deficiency_of|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	.	0.1925	0.240415	0.2160	0.1520	0.0939	0.3199	0.2052	0.2048	0.2313	0.3360	0.209965	32461	154602	rs5982	0.2156	0.2156	0.2117	0.2195	0.3279	0.2149	0.2147	0.3247	0.3234	0.1539	0.1013	0.2210	0.3015	0.2031	0.2525	0.2100	0.2248	0.3279	0.1958	0.1960	0.1933	0.1985	0.3479	0.1940	0.1932	0.3340	0.3284	0.1586	0.2029	0.1354	0.2190	0.3065	0.2133	0.2687	0.2087	0.1957	0.3479	0.729	0.03823	T	0.665	0.06406	T	.	.	.	.	.	.	0.138901	0.18362	N	0.568490	1	0.08975	P	.	.	.	-0.06	0.63568	T	0.31	0.04022	N	0.036	0.01068	-1.0809	0.07175	T	0.040	0.17149	T	9	0.0069898665	0.00159	T	.	.	.	0.077	0.22490	.	.	.	.	0.5783212436962746	0.57761	0.227437257193	0.25295	0.354513347149	0.18584	T	.	.	.	-0.666851	0.00057	T	-0.586841	0.13941	T	0.0120128747694183	0.00189	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.	.	2.677165	0.34918	19.76	0.3814487705666012	0.02555	0.45118	0.27468	N	AEFDGBI	0.423562	0.48910	N	-0.656020314291582	0.17286	0.8881491	-0.481416803574241	0.22666	1.232241	0.982481270091029	0.30405	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	2.576000	0.45698	8.492000	0.77332	0.665000	0.62972	0.643000	0.28111	1.000000	0.68203	0.253000	0.23340	0.0763:0.0:0.9237:0.0	12.334	0.54383	946	0.12043	.	.	.	.	.	.	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	0.245217	0.247475	0.213315	0.292398	0.200000	0.250000	0.216463	0.261364	0.1429	3401.26	36	chr6	6174633	.	G	A	3401.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.67;DP=522;ExcessHet=0.3476;FS=1.312;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.629;SOR=0.788	GT:AD:DP:GQ:PL	0/1:93,71:164:99:1518,0,2123	5	0	2	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	5	101	508	907	1	2323	0.919968	.	.	.	54134	Woolly_hair-skin_fragility_syndrome|not_provided|DSP-related_disorder|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Cardiovascular_phenotype|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|.|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.767875	0.792929	0.766304	0.698830	0.800000	0.810345	0.829268	0.704545	0.8571	44484.1	201	chr6	7585734	.	G	C	44484.1	.	AC=12;AF=0.857;AN=14;BaseQRankSum=4.13;DP=1788;ExcessHet=0.3476;FS=1.421;MLEAC=12;MLEAF=0.857;MQ=60;MQRankSum=0;QD=25.65;ReadPosRankSum=1.19;SOR=0.851	GT:AD:DP:GQ:PL	0/1:147,166:313:99:4388,0,3557	0	5	2	0
chr6	15593088	15593088	-	A	intronic	DTNBP1	.	.	.	Hermansky-Pudlak syndrome 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299547	not_provided|not_specified|Hermansky-Pudlak_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1750	0.2290	0.1567	0.2439	0.1055	0.1306	0.1648	0.2463	0.0002305	6	26028	rs199770715	0.2097	0.2189	0.2101	0.2093	0.2861	0.2090	0.2087	0.2813	0.2793	0.2759	0.1805	0.1867	0.2861	0.1271	0.2397	0.2068	0.2173	0.2499	0.1777	0.1747	0.1766	0.1789	0.3401	0.1758	0.1750	0.3264	0.3209	0.2501	0.0721	0.1769	0.1399	0.3401	0.0776	0.1556	0.1316	0.1878	0.2487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	735.68	24	chr6	15593088	.	G	GA	735.68	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.656;DP=225;ExcessHet=0.7136;FS=2.05;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=0.271;SOR=0.904	GT:AD:DP:GQ:PL	0/1:3,14:30:99:436,149,246	4	0	2	1
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	0/1:70,61:131:99:1426,0,1754	4	0	3	0
chr6	32039081	32039081	C	A	UTR5	CYP21A2	NM_001368143:c.-126C>A;NM_001368144:c.-126C>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	9	182	648	678	5	2009	0.846284	.	.	YES	193439	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	0.6293	0.650759	0.7060	0.7281	0.7932	0.7161	0.6224	0.7014	0.6834	0.6705	0.588071	90917	154602	rs6467	0.5950	0.5925	0.5939	0.5962	0.7333	0.5940	0.5935	0.7265	0.7237	0.6439	0.7333	0.6468	0.6576	0.4707	0.6835	0.5882	0.6013	0.6165	0.6088	0.6089	0.6127	0.6048	0.7113	0.6055	0.6042	0.7001	0.6955	0.6364	0.6394	0.7113	0.6359	0.6316	0.4363	0.6130	0.5918	0.6460	0.5973	0.313	0.13879	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-0.3	0.67874	T	0.4	0.03463	N	.	.	-1.0318	0.19873	T	0.093	0.35444	T	5	1.7294652e-06	0.00003	T	.	.	.	0.034	0.08419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.636234	0.00088	T	-0.542863	0.18016	T	0.00180369962629931	0.00018	T	0.226077	0.02982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05535	B	.	.	0.164705	0.05545	2.006	0.43740471587862012	0.03314	0.00179	0.01050	N	AEFBI	0.087333	0.17709	N	-1.19446011224149	0.05083	0.2309094	-1.36986281538789	0.03577	0.1671443	1.13245368839307E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	3.06	-0.591	0.11090	-0.233000	0.09056	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1987:0.5349:0.1383:0.1281	3.239	0.06373	923	0.18507	.	TCF19|C4A|CYP21A2|HLA-DRB9|HLA-DRB5|C4A|CYP21A1P|TNXA|HLA-DRB5|TNXA|CFB|MICB|C6orf48|CFB|C4A|CYP21A1P|HLA-DRB5|MICB|C4A|C4A|HLA-DRB9|HLA-DRB5|HLA-DOB|HLA-DMB|MICB|DDAH2|C4A|C4B|PSMB9|HLA-DRB5|HLA-DRB5|C4A|HLA-DRB5|PSORS1C1|MICB|LY6G6C|C4A|HLA-DRB5|C4A|C4A|HLA-DRB5|HLA-DRB5|MICB|TNXA|HLA-DRB5|MICB|C4A|HLA-DRB5|C4A|CYP21A1P|HLA-DRB5|C4A|TNXA|CYP21A2|HLA-DRB5|C6orf48|C4A|C4B|HLA-DRB5|MICB|MSH5|C6orf48|C4A|C4B|HLA-DRB5|C4A|TNXA|TAP1|HCG22|MICB|C4A|CYP21A1P|HLA-DRB9|HLA-DRB5|HLA-DMA|C4A|C4A|C4B|HLA-DRB5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	DXO|HLA-DRB5|HLA-DRB6|HLA-DRB1|VARS|VARS|C6orf15|CDSN|DXO|HLA-DQA1|DXO|CYP21A1P|CYP21A2	Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Cerebellum|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis	rs6467	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.8571	9493.28	43	chr6	32039081	.	C	A	9493.28	.	AC=12;AF=0.857;AN=14;BaseQRankSum=1.55;DP=364;ExcessHet=0.3476;FS=1.313;MLEAC=12;MLEAF=0.857;MQ=59.97;MQRankSum=0;QD=26.44;ReadPosRankSum=1.21;SOR=0.552	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1787,171,0	0	5	2	0
chr6	32041147	32041147	G	A	UTR3	CYP21A2	NM_000500:c.*13G>A;NM_001128590:c.*13G>A;NM_001368143:c.*13G>A;NM_001368144:c.*13G>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	14	1454	51	3	0	57	0.0192243	.	.	YES	576926	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|CYP21A2-related_disorder|not_provided|not_specified	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0095	0.0251597	0.0270	0.0035	0.0835	0.0835	0.0225	0.0153	0.0228	0.0166	0.0205819	3182	154602	rs6447	0.0173	0.0180	0.0174	0.0171	0.0625	0.0171	0.0170	0.0604	0.0596	0.0027	0.0513	0.0058	0.0625	0.0193	0.0077	0.0152	0.0148	0.0164	0.0157	0.0163	0.0154	0.0160	0.0688	0.0152	0.0150	0.0629	0.0605	0.0039	0.0100	0.0282	0.0066	0.0688	0.0198	0.0068	0.0160	0.0171	0.0164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	992.29	25	chr6	32041147	.	G	A	992.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.71;DP=234;ExcessHet=0.3476;FS=5.637;MLEAC=2;MLEAF=0.143;MQ=57.19;MQRankSum=0.74;QD=11.96;ReadPosRankSum=0.535;SOR=1.074	GT:AD:DP:GQ:PL	0/1:16,18:34:99:469,0,363	5	0	2	0
chr6	42963890	42963893	TTTA	-	UTR3	PEX6	NM_001316313:c.*445_*442delTAAA;NM_000287:c.*445_*442delTAAA	.	.	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	639	398	139	346	0	831	0.510756	.	.	.	300174	not_provided|PEX6_POLYMORPHISM|not_specified|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.647364	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs144286892	0.5727	0.5907	0.5681	0.5768	0.9184	0.5710	0.5703	0.9056	0.9003	0.9184	0.5473	0.5051	0.3599	0.5005	0.6168	0.5761	0.5928	0.6450	0.6587	0.6629	0.6658	0.6513	0.9162	0.6553	0.6538	0.9083	0.9051	0.9162	0.6826	0.5830	0.5087	0.3234	0.5061	0.5810	0.5796	0.6463	0.6385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	360.14	12	chr6	42963889	.	GTTTA	G	360.14	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.967;DP=35;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=30.43;ReadPosRankSum=0.21;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	3	2	1	1
chr6	107876670	107876670	-	AA	intronic	SEC63	.	.	.	Polycystic liver disease 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	301016	Polycystic_liver_disease_1|Polycystic_liver_disease_2|not_provided	MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924|MONDO:MONDO:0014860,MedGen:C4310769,OMIM:617004,Orphanet:2924|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027278	71	26028	rs749125299	0.1375	0.1591	0.1371	0.1380	0.1657	0.1368	0.1364	0.1514	0.1458	0.1372	0.1235	0.1475	0.1060	0.1498	0.1657	0.1397	0.1464	0.1241	0.1681	0.1681	0.1687	0.1674	0.1888	0.1661	0.1653	0.1847	0.1830	0.1888	0.1671	0.1785	0.1605	0.1144	0.1398	0.2468	0.1609	0.1787	0.1661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	625.82	7	chr6	107876670	.	C	CAA	625.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.566;DP=111;ExcessHet=0.095;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=20.86;ReadPosRankSum=-0.319;SOR=1.123	GT:AD:DP:GQ:PL	1/0:0,2:5:54:99,54,99	3	0	2	2
chr6	131847856	131847856	-	GT	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	.	.	.	.	.	.	.	.	.	306046	Arterial_calcification,_generalized,_of_infancy,_1|not_provided|Hypophosphatemic_Rickets,_Recessive|not_specified	MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MedGen:C3661900|MedGen:CN239452|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0099124	258	26028	rs879243445	0.1164	0.1420	0.1109	0.1218	0.2260	0.1159	0.1156	0.2219	0.2202	0.0541	0.1701	0.1677	0.2260	0.1618	0.1174	0.1025	0.1337	0.1540	0.2005	0.2032	0.1967	0.2045	0.3235	0.1985	0.1977	0.3101	0.3047	0.0963	0.1496	0.2623	0.2420	0.3235	0.2116	0.2176	0.2296	0.2147	0.2345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1283.19	22	chr6	131847856	.	G	GGT	1283.19	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.649;DP=151;ExcessHet=0.1336;FS=10.393;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.78;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,5:8:58:.:.:252,82,58:.	5	0	1	1
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A,SOD2:NM_001322814:exon2:c.T47C:p.V16A,SOD2:NM_001322815:exon2:c.T47C:p.V16A,SOD2:NM_001322816:exon2:c.T47C:p.V16A	.	426	313	516	267	0	1050	0.626492	.	.	.	29790	SOD2_POLYMORPHISM|Microvascular_complications_of_diabetes,_susceptibility_to,_6	.|MONDO:MONDO:0012970,MedGen:C2675128,OMIM:612634	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.048	.	0.4731	0.410743	0.5024	0.4521	0.6492	0.1596	0.5033	0.5162	0.4902	0.5375	0.0001153	3	26028	rs4880	0.4921	0.4920	0.4930	0.4912	0.6131	0.4912	0.4908	0.6070	0.6045	0.4286	0.6131	0.5060	0.1309	0.4807	0.4419	0.5013	0.4763	0.5191	0.4704	0.4704	0.4750	0.4656	0.5368	0.4675	0.4663	0.5271	0.5231	0.4245	0.4901	0.5368	0.5193	0.1435	0.4668	0.4658	0.5033	0.4693	0.5118	0.926	0.09806	T	0.979	0.20680	T	0.024	0.19075	B	0.014	0.16862	B	0.003125	0.35389	N	0.321860	1	0.28987	P	.	.	.	2.8	0.17923	T	0.35	0.06138	N	0.034	0.02964	-0.9308	0.44021	T	0.008	0.02679	T	8	3.9671322e-05	0.00008	T	.	.	.	0.048	0.13305	.	.	.	.	0.24148455001478597	0.24062	0.559626915364	0.52497	0.639073014259	0.58432	T	0.006216	0.10632	T	-0.680986	0.00047	T	-0.607145	0.12218	T	0.00926767202390716	0.00118	T	0.00962761	0.00101	T	0.019719824	0.00509	0.04335931	0.05377	0.019719824	0.00508	0.04335931	0.05376	-2.567	0.10127	T	.	.	0.065	0.07412	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.792224	0.11628	8.214	0.81617120455707348	0.13775	0.13403	0.17836	N	ALL	0.032084	0.03557	N	-0.854084909372284	0.11949	0.5796162	-0.812104859326894	0.14202	0.7408959	0.999999999993235	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.08	0.34576	2.202000	0.42377	4.081000	0.41738	-0.176000	0.10722	0.649000	0.28163	0.999000	0.35428	0.111000	0.18785	0.1374:0.121:0.7416:0.0	9.062	0.35603	725	0.54935	.;.;.;.;.;.;.;.	RP3-393E18.2|MRPL18|RP3-393E18.2|WTAP|MRPL18|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|MRPL18|PNLDC1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2|ACAT2|MRPL18|MRPL18|RP3-393E18.2|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|MRPL18|SOD2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|ACAT2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|RP3-393E18.2|HNRNPH1P1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Brain_Hippocampus|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood	SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|MRPL18	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis	rs4880	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.440524	0.429293	0.388587	0.514620	0.650000	0.439655	0.429448	0.477273	0.5	6078.12	33	chr6	159692840	.	A	G	6078.12	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.446;DP=294;ExcessHet=0.3696;FS=1.405;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.12;ReadPosRankSum=0.657;SOR=0.551	GT:AD:DP:GQ:PL	0/1:19,30:49:99:846,0,519	2	2	3	0
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q,TBP:NM_003194:exon3:c.G228A:p.Q76Q	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	136006	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0538	0.0989	0.0432	0.0847	0.0282	0.0395	0.0472	0.0948	0.0001537	4	26028	rs112083427	0.2067	0.2951	0.1908	0.2228	0.4566	0.2057	0.2053	0.4473	0.4435	0.2151	0.4566	0.3745	0.4431	0.4300	0.2950	0.1554	0.2683	0.3748	0.2313	0.2572	0.2287	0.2342	0.3402	0.2291	0.2282	0.3316	0.3280	0.1263	0.1041	0.3402	0.2648	0.2368	0.3166	0.3025	0.2555	0.2464	0.2883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.222904	0.295699	0.183924	0.233918	0.250000	0.155172	0.208861	0.189394	0.4286	5108.06	49	chr6	170561964	.	G	A	5108.06	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.991;DP=760;ExcessHet=0.4813;FS=1.376;MLEAC=6;MLEAF=0.429;MQ=59.96;MQRankSum=0;QD=12.83;ReadPosRankSum=2.57;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,40:75:99:.:.:1118,0,1081:.	2	1	4	0
chr7	4784241	4784241	A	G	exonic	AP5Z1	.	synonymous SNV	AP5Z1:NM_001364858:exon5:c.A192G:p.T64T,AP5Z1:NM_014855:exon6:c.A660G:p.T220T	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	898148	Hereditary_spastic_paraplegia_48|not_provided	MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0.0032	0.0004	5.17e-05	8	154602	rs756140557	8.654e-05	8.824e-05	7.9e-05	9.419e-05	0.0021	7.354e-05	6.934e-05	0.0012	0.0010	0	4.814e-05	0	0	0	0.0021	6.55e-05	0.0001	0.0004	4.614e-05	4.606e-05	3.867e-05	5.397e-05	0.0002	2.115e-05	1.531e-05	1.172e-05	6.25e-06	2.418e-05	0	0	0	0	0	0.0032	4.416e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000507	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1135.46	35	chr7	4784241	.	A	G	1135.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.518;DP=303;ExcessHet=0;FS=7.174;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-0.249;SOR=0.665	GT:AD:DP:GQ:PL	0/1:63,53:116:99:1146,0,1397	6	0	1	0
chr7	5992017	5992017	C	T	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon7:c.G626A:p.R209Q,PMS2:NM_001322004:exon8:c.G539A:p.R180Q,PMS2:NM_001322007:exon8:c.G626A:p.R209Q,PMS2:NM_001322010:exon8:c.G539A:p.R180Q,PMS2:NM_001322013:exon8:c.G371A:p.R124Q,PMS2:NM_000535:exon9:c.G944A:p.R315Q,PMS2:NM_001322003:exon9:c.G539A:p.R180Q,PMS2:NM_001322005:exon9:c.G539A:p.R180Q,PMS2:NM_001322006:exon9:c.G944A:p.R315Q,PMS2:NM_001322009:exon9:c.G539A:p.R180Q,PMS2:NM_001322011:exon9:c.G11A:p.R4Q,PMS2:NM_001322012:exon9:c.G11A:p.R4Q,PMS2:NM_001322014:exon9:c.G944A:p.R315Q,PMS2:NM_001322015:exon9:c.G635A:p.R212Q	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	182774	Lynch_syndrome_4|not_provided|PMS2-related_disorder|not_specified|Hereditary_cancer-predisposing_syndrome|Mismatch_repair_cancer_syndrome_4|Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome|Breast_and/or_ovarian_cancer	MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MedGen:CN221562	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.591	0.0569733626982	0.0002	0.000199681	2.487e-05	9.686e-05	0	0	0	3.019e-05	0	0	2.59e-05	4	154602	rs116314131	2.068e-05	2.326e-05	1.923e-05	2.215e-05	0.0002	1.467e-05	1.273e-05	9.809e-05	6.988e-05	0.0002	0	0	5.047e-05	0	0	1.815e-05	1.666e-05	0	5.259e-05	5.251e-05	6.431e-05	4.034e-05	0.0001	2.558e-05	1.831e-05	6.275e-05	4.295e-05	0.0001	0	0	0	0	0	0	2.941e-05	0	0	0.149	0.27194	T	0.231	0.30534	T	0.999	0.90584	D	0.619	0.83170	P	0.000014	0.62929	D	0.064353	0.999972	0.81001	D	2.165	0.60562	M	-1.81	0.83970	D	-2.68	0.57275	D	0.549	0.57518	0.109	0.84332	D	0.664	0.88329	D	10	0.5413475	0.63737	D	0.056973	0.66799	D	0.591	0.83691	.	.	0.910573392133	0.90967	0.5002295631445034	0.49943	0.227101430586	0.25262	0.439710557461	0.30537	T	0.278174	0.65081	T	0.0459511	0.57821	T	0.00975702	0.70967	D	0.809331357479095	0.46999	D	0.972403	0.92442	D	0.5976499	0.72565	0.45924804	0.68585	0.5976499	0.72566	0.45924804	0.68586	-10.479	0.76726	D	0.5534722112245647	0.62182	0.121	0.45678	B	.;.;.;.;.	.;.;.;.;.	5.353758	0.89797	31	0.99940270582314439	0.99767	0.96353	0.68724	D	AEFGBI	0.557868	0.56732	D	0.318530686757951	0.57100	3.876171	0.335907781046865	0.57662	3.932901	0.999544436518186	0.40300	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	5.738000	0.68254	7.542000	0.60105	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:0.9156:0.0:0.0844	12.933	0.57693	878	0.29785	DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein family, N-terminal;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	1125.44	35	chr7	5992017	.	C	T	1125.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=301;ExcessHet=0;FS=0.719;MLEAC=1;MLEAF=0.071;MQ=58.93;MQRankSum=1.92;QD=10.23;ReadPosRankSum=0.096;SOR=0.816	GT:AD:DP:GQ:PL	0/1:60,50:110:99:1136,0,1302	6	0	1	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	1|1:0,58:58:99:1|1:21867834_G_GT:2579,175,0:21867834	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	0/1:3,12:15:30:266,0,30	0	0	6	1
chr7	56019599	56019599	C	-	splicing	PSPH	NM_001370504:exon5:c.275+1G>-;NM_004577:exon5:c.275+1G>-;NM_001370519:exon6:c.275+1G>-;NM_001370508:exon7:c.275+1G>-;NM_001370507:exon6:c.275+1G>-;NM_001370503:exon5:c.275+1G>-;NM_001370506:exon6:c.275+1G>-;NM_001370505:exon6:c.275+1G>-;NM_001370521:exon7:c.275+1G>-;NM_001370520:exon7:c.275+1G>-;NM_001370522:exon6:c.275+1G>-;NM_001370511:exon6:c.275+1G>-;NM_001370510:exon4:c.275+1G>-;NM_001370509:exon4:c.275+1G>-;NM_001370518:exon8:c.275+1G>-;NM_001370517:exon7:c.275+1G>-;NM_001370516:exon6:c.275+1G>-;NM_001370515:exon6:c.275+1G>-;NM_001370514:exon5:c.275+1G>-;NM_001370513:exon6:c.275+1G>-;NM_001370512:exon5:c.275+1G>-	.	.	Phosphoserine phosphatase deficiency, Autosomal recessive	0	1113	409	0	0	409	0.155218	.	.	.	389820	not_provided|Neurometabolic_disorder_due_to_serine_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0018162,MedGen:C5680148,Orphanet:35705|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.0173	0.0010	0.0043	0.0025	0.0014	0.0045	0.0154	0.0112571	293	26028	rs139106189	0.0280	0.1150	0.0264	0.0296	0.2882	0.0277	0.0276	0.2824	0.2801	0.2458	0.0506	0.0260	0.2882	0.0782	0.0707	0.0123	0.0428	0.0570	0.2421	0.2770	0.2385	0.2459	0.4694	0.2399	0.2390	0.4634	0.4610	0.4694	0.0600	0.2217	0.1153	0.4012	0.1785	0.1468	0.1173	0.2195	0.2924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	546.35	16	chr7	56019598	.	AC	A	546.35	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.195;DP=131;ExcessHet=0.3476;FS=2.582;MLEAC=2;MLEAF=0.143;MQ=59.94;MQRankSum=0;QD=8.03;ReadPosRankSum=-0.152;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,6:26:99:0|1:56019585_C_A:192,0,822:56019585	5	0	2	0
chr7	74053320	74053320	-	TGTGTG	intronic	ELN	.	.	.	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	311575	Cutis_laxa,_autosomal_dominant|not_provided|Supravalvar_aortic_stenosis	MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0056	0.0149	0.0008	0.0022	0.0009	0.0044	0.0115	0.0081	0.0027684	428	154602	rs782441301	0.0129	0.0181	0.0131	0.0128	0.0286	0.0128	0.0127	0.0271	0.0264	0.0286	0.0075	0.0052	0.0033	0.0036	0.0062	0.0139	0.0122	0.0100	0.0238	0.0240	0.0252	0.0223	0.0431	0.0231	0.0228	0.0414	0.0407	0.0431	0.0225	0.0166	0.0062	0.0065	0.0037	0.0213	0.0201	0.0135	0.0121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18541.4	84	chr7	74053320	.	C	CTGTGTG	18541.4	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.38;DP=1027;ExcessHet=0.4813;FS=5.16;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=30.2;ReadPosRankSum=1.59;SOR=0.371	GT:AD:DP:GQ:PL	0/1:0,30:101:99:3570,2071,1985	5	0	2	0
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	4651.75	18	chr7	92499847	.	CA	C	4651.75	.	AC=11;AF=0.786;AN=14;BaseQRankSum=-0.911;DP=239;ExcessHet=0;FS=0;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=27.36;ReadPosRankSum=1.54;SOR=0.951	GT:AD:DP:GQ:PL	1/1:0,21:21:63:587,63,0	1	5	1	0
chr7	103989356	103989356	-	GCCGCC	UTR5	RELN	NM_173054:c.-1_0insGGCGGC;NM_005045:c.-1_0insGGCGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	74	331	411	457	249	1574	0.666834	.	.	.	135555	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Lissencephaly,_Recessive|not_provided|not_specified	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN239458|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.604233	0.0752	0.0333	0.0078	0.0295	0.0487	0.0216	0.1337	0.2712	0.0001153	3	26028	rs587780434	0.4279	0.4210	0.4270	0.4288	0.6345	0.4270	0.4266	0.6265	0.6232	0.4306	0.2776	0.3620	0.6345	0.3927	0.4386	0.4227	0.4408	0.5133	0.5219	0.5255	0.5206	0.5232	0.7433	0.5188	0.5175	0.7227	0.7143	0.5155	0.4234	0.5423	0.4904	0.7433	0.5017	0.5647	0.5012	0.5010	0.6741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	3648.44	34	chr7	103989356	.	T	TGCCGCC	3648.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.025;DP=327;ExcessHet=0.3696;FS=2.647;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=1.37;SOR=0.523	GT:AD:DP:GQ:PL	0/1:20,25:45:99:976,0,725	2	1	4	0
chr7	113878379	113878379	C	A	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.G2713T:p.D905Y	Insulin resistance, severe, digenic, Autosomal dominant	11	895	492	124	0	740	0.29249	.	.	.	23745	Type_2_diabetes_mellitus|not_provided|PPP1R3A-related_disorder|Insulin_resistance,_susceptibility_to	Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|.|MedGen:C1852091	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	.	0.1353	0.308706	0.2191	0.1986	0.2675	0.6952	0.2100	0.1107	0.2252	0.3903	0.206175	31875	154602	rs1799999	0.1416	0.1416	0.1346	0.1487	0.6879	0.1411	0.1409	0.6811	0.6783	0.1968	0.2570	0.2156	0.6879	0.1937	0.1652	0.0908	0.1697	0.3887	0.1744	0.1748	0.1615	0.1879	0.6706	0.1726	0.1719	0.6519	0.6443	0.1934	0.1220	0.2144	0.2066	0.6706	0.2038	0.1429	0.0950	0.1795	0.3984	0.0	0.91255	D	0.014	0.62352	D	0.976	0.58310	D	0.72	0.54860	P	0.024511	0.26249	N	0.367148	0.836062	0.28695	P	1.83	0.48079	L	2.05	0.20664	T	-2.39	0.52612	N	0.15	0.15328	-0.9976	0.30590	T	0.000	0.00011	T	9	8.817586e-06	0.00003	T	.	.	.	0.081	0.23632	.	.	.	.	0.3683814514852102	0.36752	0.306500050531	0.32949	0.278542757034	0.07290	T	0.186598	0.53994	T	-0.528206	0.00393	T	-0.387688	0.34823	T	0.0438705692398417	0.04397	T	0.716128	0.32863	T	0.20416406	0.42517	0.2524535	0.50875	0.20416406	0.42517	0.2524535	0.50874	-4.861	0.35294	T	.	.	0.137	0.29968	B	.	.	3.069077	0.41247	21.3	0.99319784506066688	0.59355	0.95612	0.65420	D	AEFI	0.303249	0.41127	N	0.499889304589376	0.67083	5.034699	0.49068893142535	0.67370	5.075107	0.0140741971558907	0.12550	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	3.235000	0.51027	3.309000	0.37448	0.580000	0.29708	1.000000	0.71638	0.924000	0.28388	0.195000	0.21750	0.0:0.9117:0.0:0.0883	11.640	0.50488	802	0.44336	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.174395	0.136364	0.123641	0.166667	0.250000	0.172414	0.165644	0.295455	0.3571	3984.94	33	chr7	113878379	.	C	A	3984.94	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.978;DP=424;ExcessHet=0.4813;FS=0.405;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.801;SOR=0.672	GT:AD:DP:GQ:PL	0/1:59,62:121:99:1737,0,1557	3	1	3	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	2	82	476	962	0	2400	0.936037	.	.	.	135324	Maturity_onset_diabetes_mellitus_in_young|not_specified|Type_2_diabetes_mellitus|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.814271	0.836735	0.841033	0.835294	0.750000	0.793103	0.754601	0.746154	0.7857	13950.1	64	chr7	127611134	.	T	G	13950.1	.	AC=11;AF=0.786;AN=14;BaseQRankSum=1.17;DP=578;ExcessHet=1.1394;FS=0.666;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=24.65;ReadPosRankSum=0.824;SOR=0.586	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2789,270,0	0	4	3	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	.	2137883	PODXL-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0022	0	0	0	0	0.0001229	19	154602	rs201551993	2.992e-05	3.42e-05	2.532e-05	3.464e-05	0.0009	2.24e-05	1.987e-05	0.0007	0.0006	0	0	0	0.0009	0	0	9.242e-07	8.58e-05	3.769e-05	6.566e-05	6.562e-05	3.854e-05	9.4e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	514.95	26	chr7	131505863	.	C	T	514.95	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.484;DP=383;ExcessHet=2.5225;FS=253.118;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.72;ReadPosRankSum=1.03;SOR=8.977	GT:AD:DP:GQ:PL	0/1:69,19:88:85:85,0,1422	3	0	4	0
chr7	140734774	140734774	-	A	intronic	BRAF	.	.	.	Adenocarcinoma of lung, somatic;Cardiofaciocutaneous syndrome, Autosomal dominant;Colorectal cancer, somatic (3);LEOPARD syndrome 3, Autosomal dominant;Melanoma, malignant, somatic (3);Nonsmall cell lung cancer, somatic (3);Noonan syndrome 7, Autosomal dominant	845	653	13	8	3	32	0.0217228	.	.	.	53987	not_provided|Noonan_syndrome_and_Noonan-related_syndrome|Cardio-facio-cutaneous_syndrome|Noonan_syndrome_with_multiple_lentigines|Noonan_syndrome|Congenital_long_QT_syndrome|RASopathy|not_specified	MedGen:C3661900|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340|MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:500|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0239	0.0064	0.0080	0.0075	0.0245	0.0252	0.0236	0.0503	0.0003458	9	26028	rs373442098	0.1464	0.1498	0.1468	0.1459	0.1634	0.1456	0.1453	0.1597	0.1582	0.0631	0.0962	0.1490	0.1460	0.1521	0.1353	0.1486	0.1519	0.1634	0.2455	0.2619	0.2518	0.2382	0.3032	0.2402	0.2381	0.2953	0.2920	0.1174	0.1981	0.2143	0.3011	0.2528	0.1981	0.3846	0.3032	0.2162	0.2653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	72.29	10	chr7	140734774	.	C	CA	72.29	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.431;DP=89;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.07;ReadPosRankSum=0.21;SOR=0.33	GT:AD:DP:GQ:PL	0/1:1,3:6:30:63,0,30	5	0	1	1
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	0/1:81,27:108:99:.:.:811,0,2183:.	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|1:124,14:138:99:0|1:142750672_T_A:202,0,5165:142750672	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|1:126,13:139:99:0|1:142750672_T_A:167,0,5171:142750672	2	0	5	0
chr7	142751871	142751871	G	A	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon3:c.G298A:p.D100N	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1214	308	0	0	308	0.112573	.	.	.	1856639	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	0.0428779939056	.	.	9.889e-05	9.625e-05	0	0.0001	0	0.0001	0	0	3.84e-05	1	26028	rs199507985	0.0051	0.1108	0.0042	0.0059	0.0058	0.0049	0.0049	0.0049	0.0048	0.0056	0.0014	0.0020	0.0003	0.0259	0.0058	0.0050	0.0037	0.0004	0.0108	0.0956	0.0113	0.0103	0.0183	0.0103	0.0101	0.0169	0.0163	0.0183	0.0092	0.0097	0.0055	0.0016	0.0118	0.0052	0.0086	0.0199	0.0039	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.033468	0.24894	N	0.524529	1	0.08975	N	-0.69	0.01958	N	-3.0	0.92158	D	1.9	0.00629	N	0.239	0.29429	-0.6747	0.61616	T	0.367	0.72727	T	10	0.023464203	0.00615	T	0.042878	0.60692	D	0.229	0.52916	0.66	0.79791	0.581723300495	0.57844	0.32847795118294976	0.32760	0.158480649337	0.17896	0.271346330643	0.06317	T	0.315631	0.68723	T	-0.016682	0.49325	T	-0.261739	0.48651	T	0.0383265241498447	0.03389	T	.	.	.	0.11146873	0.26341	0.07788485	0.17394	0.11146873	0.26341	0.07788485	0.17393	-3.152	0.11903	T	.	.	0.130	0.27968	B	.;.;.;.	.;.;.;.	0.306948	0.06821	3.348	0.23833427681071562	0.01026	0.02802	0.07524	N	AEFDBI	0.128302	0.24603	N	-1.45322892256066	0.02191	0.09649168	-1.40637236865901	0.03188	0.14819	0.00205546323774988	0.09120	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	0.447	0.15819	1.399000	0.34175	.	.	-0.330000	0.05784	0.098000	0.22752	0.000000	0.08366	0.001000	0.02609	0.787:0.0:0.213:0.0	7.122	0.24626	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	0.009063	0.030303	0.002717	0.005848	0.050000	0.025862	0.003049	0.003788	0.2143	617.72	43	chr7	142751871	.	G	A	617.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.662;DP=652;ExcessHet=1.1394;FS=2.003;MLEAC=3;MLEAF=0.214;MQ=58.83;MQRankSum=-11.38;QD=1.25;ReadPosRankSum=-0.668;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:248,29:277:99:0|1:142751865_C_A:431,0,10287:142751865	4	0	3	0
chr7	142752476	142752476	G	C	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon4:c.G500C:p.S167T	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	495	1027	0	0	1027	0.509172	.	.	.	1044764	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0561978714716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232891794	0.2545	0.3268	0.2490	0.2598	0.3691	0.2536	0.2533	0.3636	0.3614	0.2301	0.3691	0.3339	0.1146	0.3574	0.2639	0.2514	0.2503	0.2264	0.4061	0.4174	0.4095	0.4025	0.4695	0.4032	0.4020	0.4636	0.4612	0.4695	0.3848	0.4099	0.4028	0.1747	0.4131	0.3359	0.3953	0.3970	0.2476	0.157	0.23997	T	0.098	0.39040	T	0.0	0.07471	B	0.01	0.14941	B	0.083030	0.20775	N	0.574518	1	0.08975	N	1.445	0.36358	L	-3.32	0.93882	D	-2.14	0.48523	N	0.225	0.25622	-0.1577	0.78727	T	0.698	0.89598	D	10	0.23140222	0.40113	T	0.056198	0.66515	D	0.289	0.60808	0.642	0.77903	0.527610103971	0.52408	0.7123115361635766	0.71173	0.155586269279	0.17559	0.440457701683	0.30639	T	0.578285	0.86150	D	-0.00289087	0.51255	T	-0.241929	0.50610	T	0.0861879674086316	0.10760	T	.	.	.	0.1717769	0.37831	0.16736849	0.38616	0.1717769	0.37831	0.16736849	0.38615	-3.967	0.23308	T	.	.	0.124	0.29172	B	.;.;.;.	.;.;.;.	-0.119171	0.03530	0.672	0.49745973133581234	0.04263	0.00742	0.03097	N	AEFBI	0.279347	0.39342	N	-1.33556641628984	0.03277	0.1461073	-1.43646429030785	0.02895	0.1340265	4.17954976400154E-4	0.06899	0.446893	0.09132	0	0.457222	0.06608	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	-1.85	0.07363	0.606000	0.23891	.	.	-1.515000	0.01011	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6816:0.3184:0.0	15.926	0.79405	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	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	0/1:161,64:225:99:1962,0,4484	2	0	5	0
chr7	152178015	152178015	T	A	intronic	KMT2C	.	.	.	.	.	.	.	.	.	.	.	0	0.002	.	1610810	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs878978808	0.0020	0.0043	0.0020	0.0021	0.0181	0.0020	0.0019	0.0165	0.0159	0.0008	0.0020	0.0015	0.0092	0.0017	0.0011	0.0015	0.0028	0.0181	0.0051	0.0063	0.0057	0.0043	0.0392	0.0046	0.0044	0.0303	0.0271	0.0037	0.0419	0.0030	0.0042	0.0098	0.0016	0.0185	0.0041	0.0041	0.0392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	330.29	12	chr7	152178015	.	T	A	330.29	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.65;DP=65;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=23.59;ReadPosRankSum=0;SOR=0.914	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,3:5:46:.:.:85,0,46:.	4	0	1	2
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|1:82,149:231:99:0|1:10610127_T_C:5868,0,2938:10610127	5	0	2	0
chr8	27803549	27803549	-	ACAC	UTR3	ESCO2	NM_001017420:c.*111_*112insACAC	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	314100	Roberts-SC_phocomelia_syndrome|not_provided	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs144484866	0.2917	0.2737	0.2932	0.2903	0.3319	0.2909	0.2906	0.3158	0.3093	0.1909	0.2424	0.3492	0.0874	0.2780	0.3319	0.3039	0.2895	0.2493	0.3026	0.3027	0.3028	0.3024	0.3550	0.3003	0.2993	0.3512	0.3497	0.2176	0.2777	0.3136	0.4715	0.0718	0.3370	0.3690	0.3550	0.3395	0.2897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	231.45	1	chr8	27803549	.	T	TACAC	231.45	.	AC=4;AF=0.4;AN=10;DP=18;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=60;QD=34.19;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:27803549_T_TACAC:159,12,0:27803549	3	2	0	2
chr8	67076486	67076486	A	G	exonic	CSPP1	.	nonsynonymous SNV	CSPP1:NM_001363131:exon3:c.A104G:p.K35R,CSPP1:NM_001363132:exon3:c.A104G:p.K35R,CSPP1:NM_001363133:exon3:c.A104G:p.K35R,CSPP1:NM_001364869:exon3:c.A212G:p.K71R,CSPP1:NM_001364870:exon3:c.A212G:p.K71R,CSPP1:NM_001382391:exon3:c.A104G:p.K35R,CSPP1:NM_024790:exon3:c.A212G:p.K71R	Joubert syndrome 21, Autosomal recessive	438	1074	10	0	0	10	0.00463392	.	.	.	439323	not_provided|CSPP1-related_disorder|Joubert_syndrome_21	MedGen:C3661900|.|MONDO:MONDO:0014288,MedGen:C3810212,OMIM:615636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	0.032919025482	0.0003	0.000998403	0.0009	0	0.0007	0	0	0.0007	0.0022	0.0035	0.000815	126	154602	rs200158932	0.0007	0.0008	0.0007	0.0008	0.0037	0.0007	0.0007	0.0034	0.0032	3.223e-05	0.0009	0.0048	0	1.901e-05	0.0020	0.0005	0.0012	0.0037	0.0008	0.0008	0.0007	0.0009	0.0033	0.0007	0.0006	0.0021	0.0017	9.635e-05	0	0.0022	0.0075	0	0	0	0.0006	0.0014	0.0033	0.167	0.31088	T	0.397	0.15157	T	0.675	0.41275	P	0.23	0.38212	B	.	.	.	.	0.999968	0.52935	D	2.175	0.60977	M	0.01	0.62459	T	-1.58	0.38151	N	0.29	0.32812	-0.9104	0.46805	T	0.168	0.50713	T	9	0.004075825	0.00080	T	0.032919	0.54612	D	0.081	0.23632	.	.	0.618220796974	0.61513	0.13224687950424716	0.13149	0.260233757708	0.28594	0.417426407337	0.27483	T	0.039126	0.25082	T	-0.506299	0.00527	T	-0.503091	0.22027	T	0.0435329575867889	0.04335	T	0.722728	0.33613	T	.	.	.	.	.	.	.	.	-4.079	0.24980	T	.	.	0.086	0.10691	B	.;.	.;.	3.978801	0.58476	24.0	0.96336002961567346	0.29466	0.77316	0.38000	D	AEFDBHI	0.176160	0.30336	N	-0.592453376376473	0.19172	1.001356	-0.56047423542501	0.20528	1.106393	0.422258865873599	0.20301	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.53	3.09	0.34677	3.732000	0.54746	.	.	-0.095000	0.16041	0.996000	0.39380	0.999000	0.35428	0.014000	0.10232	0.737:0.263:0.0:0.0	12.555	0.55595	358	0.85037	.;.	.	.	.	.	.	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.1429	1073.26	34	chr8	67076486	.	A	G	1073.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.58;DP=265;ExcessHet=0.3476;FS=3.701;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-1.154;SOR=1.136	GT:AD:DP:GQ:PL	0/1:37,15:52:99:344,0,918	5	0	2	0
chr8	107284736	107284736	C	T	exonic	ANGPT1	.	nonsynonymous SNV	ANGPT1:NM_001314051:exon6:c.G551A:p.R184Q,ANGPT1:NM_001146:exon7:c.G1151A:p.R384Q,ANGPT1:NM_001199859:exon7:c.G1148A:p.R383Q	.	425	1080	17	0	0	17	0.00780891	.	.	.	700335	not_provided|Hereditary_angioedema_type_3|ANGPT1-related_disorder	MedGen:C3661900|MONDO:MONDO:0012526,MedGen:C1857728,OMIM:610618,Orphanet:100054|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.129	0.0196338407554	0.0007	0.00139776	0.0013	0.0002	0.0022	0	0	0.0017	0.0033	0.0007	0.0012936	200	154602	rs146465357	0.0009	0.0009	0.0009	0.0010	0.0359	0.0009	0.0009	0.0319	0.0303	0.0011	0.0025	0.0015	0	3.76e-05	0.0359	0.0007	0.0018	0.0006	0.0012	0.0012	0.0012	0.0012	0.0040	0.0011	0.0010	0.0032	0.0029	0.0002	0	0.0040	0.0020	0	0	0.0612	0.0013	0.0033	0	0.496	0.10148	T	0.624	0.07342	T	0.0	0.02946	B	0.003	0.08700	B	0.001264	0.39594	N	0.292338	0.946439	0.37527	D	-0.58	0.02282	N	-1.02	0.76300	T	1.42	0.01213	N	0.12	0.11054	-0.8169	0.54127	T	0.156	0.48704	T	10	0.004649788	0.00097	T	0.019634	0.42042	T	0.129	0.35316	.	.	0.548084970984	0.54464	.	.	1.09884931707	0.77656	0.208435475826	0.00746	T	0.105378	0.41579	T	-0.479626	0.00743	T	-0.466964	0.25844	T	0.0260462099909689	0.01412	T	0.670133	0.27879	T	0.088085026	0.20535	0.07744094	0.17252	0.088085026	0.20535	0.07744094	0.17251	-2.19	0.03992	T	.	.	0.066	0.04932	B	.;.;.;.	.;.;.;.	1.766831	0.22469	15.63	0.96285748806707572	0.29295	0.63144	0.31998	D	AEFDGHCIJ	0.350261	0.44376	N	-0.403306316873206	0.25353	1.375649	-0.203581745616146	0.31407	1.777156	0.999783491271583	0.43007	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.73	3.93	0.44666	1.019000	0.29616	2.169000	0.31039	-0.171000	0.11205	0.859000	0.30595	1.000000	0.68203	0.910000	0.44547	0.0:0.7827:0.0:0.2173	9.188	0.36343	898	0.25240	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	.	.	.	.	.	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	0.022659	0.025253	0.031250	0.046784	0.000000	0.051724	0.003049	0.000000	0.07143	731.63	35	chr8	107284736	.	C	T	731.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.81;DP=271;ExcessHet=0;FS=5.434;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=0.501;SOR=1.226	GT:AD:DP:GQ:PL	0/1:61,34:95:99:742,0,1317	6	0	1	0
chr8	132893891	132893891	G	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon11:c.G2963A:p.R988H	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1420	80	3	19	105	0.0293917	.	.	.	700402	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	.	.	0.0113818	0.0062	0.0136	0.0065	0	0.0002	0.0047	0.0198	0.0125	0.0060931	942	154602	rs16893332	0.0039	0.0039	0.0036	0.0043	0.0326	0.0039	0.0038	0.0288	0.0273	0.0148	0.0069	0.0242	5.038e-05	3.744e-05	0.0326	0.0023	0.0071	0.0129	0.0076	0.0076	0.0075	0.0078	0.0141	0.0072	0.0071	0.0120	0.0116	0.0129	0.0694	0.0091	0.0271	0.0002	0	0.0272	0.0034	0.0095	0.0141	0.145	0.25154	T	0.23	0.25135	T	0.014	0.16867	B	0.002	0.06944	B	0.225609	0.03484	N	1.557920	1	0.08975	P	1.995	0.54099	M	-0.05	0.63403	T	-0.61	0.18042	N	0.072	0.04547	-1.0384	0.17802	T	0.130	0.43907	T	9	0.0039331317	0.00075	T	.	.	.	0.031	0.07369	.	.	0.489036454283	0.48535	0.4654018044957635	0.46459	0.0845940308932	0.09560	0.33510312438	0.15703	T	0.031147	0.21906	T	-0.600481	0.00145	T	-0.62365	0.10901	T	0.00297776578759739	0.00031	T	0.612539	0.23323	T	0.057231065	0.11362	0.022166258	0.00247	0.057231065	0.11362	0.022166258	0.00247	-4.793	0.34510	T	0.2324255815871423	0.31459	0.086	0.10449	B	.	.	1.354724	0.17631	13.28	0.93809713431198005	0.23783	0.05774	0.11706	N	ALL	0.057441	0.10699	N	-1.0196633219255	0.08196	0.383451	-1.04276711803798	0.08857	0.4376336	0.999999974337892	0.74766	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.14	-0.246	0.12380	-0.135000	0.10399	0.321000	0.17185	0.661000	0.55757	0.000000	0.06391	0.004000	0.18990	0.070000	0.16646	0.3158:0.2552:0.2984:0.1306	1.132	0.01640	808	0.43318	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	925.45	33	chr8	132893891	.	G	A	925.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.46;DP=247;ExcessHet=0;FS=2.006;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-2.447;SOR=1.045	GT:AD:DP:GQ:PL	0/1:44,37:81:99:936,0,1099	6	0	1	0
chr8	132941528	132941528	C	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon26:c.C5219A:p.T1740K	Thyroid dyshormonogenesis 3, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	722859	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.144	.	0.0080	0.00758786	0.0023	0.0262	0.0005	0	0	0	0	0	0.0021216	328	154602	rs16904791	0.0007	0.0007	0.0008	0.0006	0.0264	0.0007	0.0007	0.0249	0.0244	0.0264	0.0014	0	0	0	0.0010	8.993e-06	0.0016	2.319e-05	0.0075	0.0075	0.0078	0.0071	0.0259	0.0071	0.0069	0.0246	0.0241	0.0259	0	0.0030	0	0	0	0	7.349e-05	0.0033	0	0.002	0.72154	D	0.008	0.67890	D	0.514	0.37393	P	0.036	0.22909	B	0.180730	0.03180	N	1.642720	1	0.08975	N	2.19	0.61577	M	-0.25	0.67011	T	-2.13	0.48354	N	0.285	0.32259	-0.9220	0.45279	T	0.092	0.35010	T	10	0.008458972	0.00192	T	.	.	.	0.144	0.38394	.	.	0.810901720151	0.80912	0.4627720739836157	0.46196	0.0895148867953	0.10113	0.295309662819	0.09703	T	0.118532	0.43941	T	-0.510109	0.00501	T	-0.484563	0.23962	T	0.0241126761368785	0.01159	T	0.675332	0.28377	T	0.31504348	0.54219	0.17873062	0.40561	0.5080722	0.67568	0.17803042	0.40443	-3.043	0.10651	T	0.5186647486589467	0.59128	0.331	0.55278	B	.	.	1.747279	0.22230	15.53	0.96835020279510986	0.31282	0.06640	0.12657	N	AEFDGBI	0.105024	0.20996	N	-0.485131604309739	0.22568	1.205935	-0.526456082756643	0.21436	1.160	0.999968848663383	0.48965	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.61	3.83	0.43287	1.920000	0.39655	-0.005000	0.13145	-0.176000	0.10722	0.006000	0.17386	0.000000	0.08366	0.003000	0.05239	0.0:0.8253:0.0:0.1747	8.737	0.33697	672	0.60758	.	.	.	.	.	.	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	0.002014	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	3816.24	33	chr8	132941528	.	C	A	3816.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.15;DP=466;ExcessHet=0.3476;FS=4.468;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.367;SOR=0.498	GT:AD:DP:GQ:PL	0/1:82,72:154:99:1777,0,1956	5	0	2	0
chr9	2622147	2622155	CGGCGGCGG	-	ncRNA_exonic	VLDLR-AS1	.	.	.	.	134	297	245	137	709	1228	0.466307	.	.	.	274730	not_provided|Congenital_cerebellar_hypoplasia|not_specified	MedGen:C3661900|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3265	0.30631	0.1908	0.1477	0.2045	0.25	0.125	0.2247	0.2105	0.1797	0.0002717	42	154602	rs369552432	0.3801	0.3475	0.3852	0.3748	0.4136	0.3792	0.3788	0.4075	0.4050	0.1944	0.3970	0.2985	0.4136	0.3827	0.2810	0.3964	0.3561	0.2349	0.3293	0.3297	0.3288	0.3298	0.4202	0.3269	0.3259	0.4055	0.4020	0.1981	0.1914	0.4141	0.2980	0.4202	0.3595	0.3483	0.3884	0.3335	0.2385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8772.59	35	chr9	2622146	.	ACGGCGGCGG	A	8772.59	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.396;DP=281;ExcessHet=0;FS=1.454;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=28.03;ReadPosRankSum=-0.138;SOR=0.538	GT:AD:DP:GQ:PL	1/0:0,22:46:99:1919,1007,1109	1	1	4	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	0/1:0,24:46:99:1919,912,840	2	1	3	1
chr9	4118110	4118110	T	A	exonic	GLIS3	.	synonymous SNV	GLIS3:NM_152629:exon3:c.A903T:p.P301P,GLIS3:NM_001042413:exon4:c.A1368T:p.P456P	Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive	27	1494	1	0	0	1	0.00033456	.	.	.	308453	Neonatal_diabetes_mellitus_with_congenital_hypothyroidism|not_provided	MONDO:MONDO:0012436,MedGen:C1857775,OMIM:610199,Orphanet:79118|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.262e-05	0	0	0	0	7.492e-05	0	0	3.23e-05	5	154602	rs755087869	3.26e-05	3.332e-05	2.945e-05	3.583e-05	3.46e-05	2.367e-05	2.095e-05	2.399e-05	2.065e-05	0	0	0	0	0	0	3.46e-05	0.0002	0	4.753e-05	4.366e-05	7.551e-05	1.915e-05	0.0001	1.789e-05	1.209e-05	4.294e-05	2.724e-05	0	0	0	0	0	0	0	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	.	.	.	.	.	.	.	.	0.07143	393.83	31	chr9	4118110	.	T	A	393.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.17;DP=252;ExcessHet=0;FS=2.684;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.57;ReadPosRankSum=-1.21;SOR=1.244	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,15:52:99:0|1:4118110_T_A:404,0,1489:4118110	6	0	1	0
chr9	14842660	14842660	C	G	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon9:c.G1394C:p.G465A,FREM1:NM_144966:exon10:c.G1394C:p.G465A	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	5	1397	115	5	0	125	0.0428229	0.7675	0.582	.	215773	not_provided|Congenital_diaphragmatic_hernia|Oculotrichoanal_syndrome|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.337	.	0.0099	0.0199681	0.0186	0.0108	0.0443	0.0175	0.0009	0.0091	0.0196	0.0529	0.0169726	2624	154602	rs41298151	0.0128	0.0128	0.0118	0.0137	0.0475	0.0126	0.0126	0.0462	0.0457	0.0119	0.0401	0.0021	0.0165	0.0010	0.0290	0.0095	0.0150	0.0475	0.0120	0.0120	0.0113	0.0127	0.0435	0.0116	0.0114	0.0387	0.0368	0.0109	0.0505	0.0192	0.0026	0.0187	0.0007	0.0238	0.0095	0.0265	0.0435	0.017	0.51248	D	0.012	0.63918	D	0.998	0.73220	D	0.899	0.63802	P	0.000068	0.52346	N	0.202129	0.999671	0.48205	D	2.93	0.84523	M	0.33	0.58323	T	-4.11	0.74980	D	0.574	0.61511	-0.4955	0.68812	T	0.221	0.58396	T	10	0.007178992	0.00163	T	0.050605	0.64312	D	0.337	0.65913	.	.	.	.	0.7100395082716132	0.70945	.	.	0.507683515549	0.39899	T	0.410525	0.76524	T	-0.460076	0.00982	T	-0.397873	0.33631	T	0.0337219308297482	0.02591	T	0.888211	0.61727	D	0.35948035	0.57796	0.38014293	0.63053	0.4236663	0.62336	0.38014293	0.63053	-6.652	0.51448	T	.	.	0.147	0.33319	B	.;.	.;.	3.188836	0.43316	21.7	0.9953131129274787	0.69901	0.98761	0.86513	D	AEFBI	0.881154	0.80831	D	0.428934538463769	0.63020	4.52784	0.371036417734757	0.59785	4.159426	0.922265389065426	0.26702	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.63	3.76	0.42368	4.692000	0.61431	0.270000	0.16646	-0.214000	0.08267	1.000000	0.71638	0.012000	0.20211	0.974000	0.55675	0.0:0.7991:0.1302:0.0707	11.003	0.46831	835	0.38313	.;.	.	.	.	.	.	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	0.027383	0.015152	0.025815	0.012195	0.000000	0.025862	0.030488	0.049242	0.2857	4164.83	36	chr9	14842660	.	C	G	4164.83	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.28;DP=278;ExcessHet=0.0921;FS=1.94;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=23.4;ReadPosRankSum=0.89;SOR=0.499	GT:AD:DP:GQ:PL	1/1:0,73:73:99:2512,219,0	4	1	2	0
chr9	34649445	34649445	A	G	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon8:c.A613G:p.N205D,GALT:NM_000155:exon10:c.A940G:p.N314D	Galactosemia, Autosomal recessive	0	1107	372	43	0	458	0.171407	.	.	YES	18652	GALT_POLYMORPHISM_(DUARTE,_D2)|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|Galactosemia|not_provided|GALT-related_disorder	.|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|Human_Phenotype_Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.382	.	0.0715	0.0728834	0.0920	0.0237	0.0572	0.0076	0.1131	0.0945	0.1289	0.1832	0.0897013	13868	154602	rs2070074	0.0956	0.0956	0.0927	0.0986	0.1801	0.0952	0.0950	0.1777	0.1767	0.0230	0.0656	0.1134	0.0067	0.1077	0.1130	0.0945	0.0966	0.1801	0.0748	0.0749	0.0737	0.0760	0.1732	0.0737	0.0732	0.1634	0.1595	0.0239	0.2264	0.0709	0.1086	0.0108	0.1101	0.0850	0.0952	0.0794	0.1732	1.0	0.00964	T	0.7	0.05727	T	0.0	0.02946	B	0.0	0.01387	B	0.023682	0.26395	N	0.363282	1	0.08975	N	-1.335	0.00675	N	-5.41	0.99076	D	0.69	0.02558	N	0.104	0.08786	-0.3448	0.73705	T	0.089	0.34216	T	10	0.0015891492	0.00018	T	.	.	.	0.382	0.69946	.	.	.	.	0.6107519334601241	0.61007	0.0529846633455	0.05838	0.494998365641	0.38132	T	0.531105	0.83775	D	-0.320467	0.06859	T	-0.0892856	0.64216	T	0.0011724377910854	0.00011	T	0.607439	0.22904	T	0.115712315	0.27301	0.081687234	0.18585	0.12176597	0.28627	0.085849494	0.19850	-2.233	0.04204	T	0.05973314454148825	0.01594	0.066	0.02313	B	.;.	.;.	2.301558	0.29454	18.13	0.77100449014328254	0.11737	0.33342	0.24805	N	AEFBI	0.235241	0.35787	N	-0.807690574731224	0.13113	0.6437672	-0.543084349204827	0.20989	1.133386	0.999962452380944	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	4.4	0.52402	1.735000	0.37800	6.631000	0.56152	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.3139:0.0:0.6861:0.0	7.829	0.28496	327	0.86637	.;Galactose-1-phosphate uridyl transferase, C-terminal	GALT|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|GALT|IL11RA|IL11RA|CNTFR-AS1|IL11RA|GALT|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|RP11-195F19.9|RPP25L|GALT|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|TRBV26OR9-2|RP11-384P7.7|RPP25L|IL11RA|RP11-195F19.9|GALT|IL11RA|GALT|IL11RA|IL11RA|RPP25L|IL11RA|RP11-195F19.9|CNTFR-AS1|GALT|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RPP25L|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	GALT|GALT|GALT|GALT|GALT|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|GALT|GALT|GALT|GALT|GALT|CCL27|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Uterus|Vagina|Whole_Blood	rs2070074	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.120342	0.055556	0.092391	0.134503	0.100000	0.129310	0.131098	0.200758	0.1429	1711.34	34	chr9	34649445	.	A	G	1711.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.34;DP=278;ExcessHet=0.3476;FS=1.343;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=1.72;SOR=0.828	GT:AD:DP:GQ:PL	0/1:39,41:80:99:992,0,921	5	0	2	0
chr9	132342716	132342716	A	C	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon5:c.T472G:p.L158V,SETX:NM_001351528:exon5:c.T472G:p.L158V,SETX:NM_015046:exon5:c.T472G:p.L158V	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	316922	not_specified|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|Amyotrophic_lateral_sclerosis_type_4|not_provided|SETX-related_disorder|Inborn_genetic_diseases|Hereditary_spastic_paraplegia	MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MedGen:C3661900|MedGen:CN239403|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.436	0.0834254667316	0.0040	0.00159744	0.0037	0.0005	0.0016	0	0.0057	0.0048	0.0044	0.0039	0.0035122	543	154602	rs145438764	0.0049	0.0049	0.0048	0.0050	0.0073	0.0048	0.0047	0.0055	0.0054	0.0007	0.0015	0.0016	0	0.0046	0.0073	0.0055	0.0038	0.0041	0.0035	0.0035	0.0033	0.0037	0.0054	0.0032	0.0031	0.0050	0.0048	0.0009	0	0.0008	0.0017	0	0.0070	0.0068	0.0054	0.0047	0.0039	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	0.000016	0.62929	D	0.000000	0.955192	0.26343	N	1.1	0.28011	L	-1.75	0.83495	D	-1.17	0.29933	N	0.672	0.67995	-0.3144	0.74580	T	0.447	0.78258	T	10	0.019678175	0.00442	T	0.083425	0.74113	D	0.436	0.74093	.	.	0.731782196658	0.72939	0.5147643254081122	0.51399	0.434735674297	0.43601	0.707861721516	0.68283	T	0.248009	0.61775	T	-0.236844	0.15754	T	-0.110652	0.62560	T	0.0240957226691437	0.01157	T	0.806319	0.45525	T	0.33789864	0.56111	0.2739793	0.53322	0.33789864	0.56111	0.2739793	0.53321	-4.191	0.26621	T	0.7157691124839489	0.79643	0.283	0.51566	B	.	.	3.053818	0.40982	21.3	0.99828922786251617	0.91112	0.86125	0.45347	D	AEFDBI	0.164312	0.29069	N	0.175915006962457	0.50044	3.198333	0.121805812255643	0.45667	2.825761	0.933647200815611	0.27138	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.6	-0.0263	0.13257	1.752000	0.37977	1.816000	0.29002	0.745000	0.86679	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.4976:0.0:0.5024:0.0	10.761	0.45467	952	0.10565	.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	482.83	18	chr9	132342716	.	A	C	482.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.071;DP=180;ExcessHet=0;FS=1.237;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=2.02;SOR=0.504	GT:AD:DP:GQ:PL	0/1:16,23:39:99:493,0,371	6	0	1	0
chr9	132897614	132897614	A	-	intronic	TSC1	.	.	.	Lymphangioleiomyomatosis;Tuberous sclerosis-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	58145	Tuberous_sclerosis_syndrome|not_provided|Tuberous_sclerosis_1|Hereditary_cancer-predisposing_syndrome|not_specified|Isolated_focal_cortical_dysplasia_type_II	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.342652	0.2827	0.3340	0.2770	0.2973	0.3197	0.2811	0.2717	0.2332	0.0002689	7	26028	rs118203716	0.1067	0.1211	0.1068	0.1066	0.1678	0.1063	0.1061	0.1637	0.1620	0.1678	0.1293	0.1160	0.0999	0.1215	0.1610	0.1053	0.1095	0.0811	0.0585	0.0528	0.0588	0.0581	0.0633	0.0572	0.0567	0.0615	0.0608	0.0601	0.0667	0.0514	0.0821	0.0102	0.0409	0.0750	0.0633	0.0607	0.0347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1334.72	29	chr9	132897613	.	GA	G	1334.72	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.407;DP=357;ExcessHet=2.5225;FS=0.658;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.549;SOR=0.783	GT:AD:DP:GQ:PL	1/0:4,7:30:4:225,61,166	1	0	6	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	0/1:45,32:77:99:700,0,1175	2	0	5	0
chr9	133568420	133568420	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon14:c.C2022T:p.P674P,ADAMTSL2:NM_014694:exon14:c.C2022T:p.P674P	Geleophysic dysplasia 1, Autosomal recessive	0	1140	340	42	0	424	0.156805	.	.	.	508835	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0092302	1427	154602	rs534165083	0.1392	0.1391	0.1410	0.1374	0.1524	0.1387	0.1385	0.1518	0.1516	0.0847	0.0821	0.1171	0.0115	0.2030	0.1510	0.1524	0.1308	0.0510	0.1254	0.1256	0.1256	0.1253	0.1561	0.1240	0.1233	0.1537	0.1526	0.0864	0.0439	0.1089	0.1227	0.0039	0.2088	0.1293	0.1561	0.1380	0.0410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	5267.89	33	chr9	133568420	.	C	T	5267.89	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.61;DP=570;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.87;SOR=0.677	GT:AD:DP:GQ:PL	0/1:64,68:132:99:1575,0,1369	4	0	3	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V,ADAMTSL2:NM_014694:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	1	295	703	523	0	1749	0.747755	.	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.6429	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	1/1:0,60:60:99:1834,180,0	1	3	3	0
chr9	133573863	133573863	G	A	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon18:c.G2613A:p.V871V,ADAMTSL2:NM_014694:exon18:c.G2613A:p.V871V	Geleophysic dysplasia 1, Autosomal recessive	1	1145	334	42	0	418	0.154357	.	.	.	317138	not_specified|Geleophysic_dysplasia_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0134345	2077	154602	rs62637566	0.1354	0.1354	0.1370	0.1338	0.1550	0.1349	0.1347	0.1471	0.1469	0.0882	0.0810	0.1175	0.0116	0.1984	0.1550	0.1477	0.1287	0.0500	0.1243	0.1245	0.1244	0.1242	0.1520	0.1228	0.1222	0.1496	0.1486	0.0910	0.0570	0.1072	0.1238	0.0039	0.2030	0.1327	0.1520	0.1329	0.0400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2857	5786.35	33	chr9	133573863	.	G	A	5786.35	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.16;DP=479;ExcessHet=0.0921;FS=1.755;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=0.446;SOR=0.804	GT:AD:DP:GQ:PL	0/1:69,51:120:99:1113,0,1627	4	1	2	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	0|1:3,6:9:36:0|1:8074278_G_GA:142,0,36:8074278	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	1/1:0,30:30:90:952,90,0	0	4	3	0
chr10	71798442	71798442	G	A	exonic	CDH23	.	synonymous SNV	CDH23:NM_001171933:exon3:c.G198A:p.L66L,CDH23:NM_001171934:exon3:c.G198A:p.L66L,CDH23:NM_022124:exon48:c.G6918A:p.L2306L	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1486	36	0	0	36	0.0119681	.	.	YES	55187	not_provided|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|not_specified|Usher_syndrome_type_1D	MedGen:C3661900|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MedGen:CN169374|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0006	0.00479233	0.0036	0.0002	0.0011	0.0001	0	0.0015	0.0045	0.0188	0.003163	489	154602	rs146819206	0.0019	0.0019	0.0014	0.0024	0.0188	0.0018	0.0018	0.0181	0.0177	5.974e-05	0.0008	0.0068	2.519e-05	0.0001	0.0083	0.0006	0.0027	0.0188	0.0011	0.0012	0.0010	0.0013	0.0159	0.0010	0.0010	0.0131	0.0120	0.0001	0	0.0008	0.0058	0.0002	9.411e-05	0.0068	0.0008	0.0005	0.0159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.004532	0.000000	0.001359	0.005848	0.050000	0.008621	0.003049	0.011364	0.2143	4253.74	33	chr10	71798442	.	G	A	4253.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1;DP=403;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=-0.791;SOR=0.705	GT:AD:DP:GQ:PL	1/1:0,100:100:99:2829,299,0	5	1	1	0
chr10	71811550	71811550	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon17:c.G2518A:p.A840T,CDH23:NM_001171934:exon17:c.G2518A:p.A840T,CDH23:NM_022124:exon62:c.G9238A:p.A3080T	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1503	19	0	0	19	0.00628099	.	.	.	229903	Usher_syndrome_type_1|not_provided|not_specified|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.133	.	7.8e-05	0.00299521	0.0015	0	0.0005	0.0007	0	7.494e-05	0	0.0099	0.0013066	202	154602	rs369395479	0.0007	0.0007	0.0005	0.0010	0.0095	0.0007	0.0007	0.0090	0.0088	5.974e-05	0.0002	0	0.0005	0	0.0042	0.0001	0.0009	0.0095	0.0004	0.0004	0.0003	0.0004	0.0085	0.0003	0.0003	0.0064	0.0057	4.817e-05	0	0.0003	0	0.0004	0	0.0034	8.824e-05	0.0009	0.0085	0.316	0.13744	T	0.108	0.38891	T	0.016	0.17332	B	0.002	0.06944	B	0.000051	0.53742	D	0.072195	0.999902	0.50806	D	1.295	0.32453	L	0.24	0.59583	T	-1.79	0.42191	N	0.45	0.48780	-0.9216	0.45334	T	0.145	0.46859	T	10	0.008137375	0.00185	T	.	.	.	0.133	0.36157	.	.	0.777339287198	0.77529	0.7024125172313511	0.70182	0.174077167911	0.19599	0.457005262375	0.32900	T	0.016806	0.59237	T	-0.387317	0.02800	T	-0.321596	0.42400	T	0.0386353492225009	0.03444	T	0.816218	0.47186	T	0.051676724	0.09526	0.13800593	0.32971	0.04183747	0.06234	0.12340108	0.29756	-6.772	0.53299	T	.	.	0.107	0.20117	B	.;.;.;.	.;.;.;.	3.374855	0.46651	22.3	0.98528525038825709	0.42558	0.84584	0.43667	D	AEFDBCI	0.610479	0.59930	D	-0.255459950207905	0.30885	1.726467	-0.103550876891836	0.35246	2.036932	0.99999752825339	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.562822	0.20929	0	.	.	5.36	4.46	0.53567	5.805000	0.68809	8.594000	0.77699	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0701:0.0:0.7984:0.1315	10.628	0.44712	787	0.46738	.;.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.2143	5824.79	33	chr10	71811550	.	G	A	5824.79	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.637;DP=434;ExcessHet=0;FS=2.372;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=20.88;ReadPosRankSum=-0.878;SOR=0.719	GT:AD:DP:GQ:PL	1/1:0,126:126:99:3716,378,0	5	1	1	0
chr10	86687073	86687073	G	A	exonic	LDB3	.	nonsynonymous SNV	LDB3:NM_001080116:exon5:c.G349A:p.D117N,LDB3:NM_001080114:exon6:c.G349A:p.D117N,LDB3:NM_001171610:exon6:c.G694A:p.D232N,LDB3:NM_001171611:exon6:c.G694A:p.D232N,LDB3:NM_001368066:exon6:c.G349A:p.D117N,LDB3:NM_001368067:exon6:c.G349A:p.D117N,LDB3:NM_001368068:exon6:c.G349A:p.D117N	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	1	1477	41	3	0	47	0.0156614	.	.	.	19772	Cardiovascular_phenotype|not_specified|not_provided|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy_4|Primary_dilated_cardiomyopathy	MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011094,MedGen:C1832244,OMIM:601493,Orphanet:154,Orphanet:54260|MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.272	.	0.0068	0.00778754	0.0046	0.0154	0.0047	0	0	0.0043	0.0078	0.0031	0.0042173	652	154602	rs121908338	0.0034	0.0034	0.0033	0.0036	0.0354	0.0033	0.0033	0.0314	0.0298	0.0170	0.0061	0.0101	2.519e-05	0.0001	0.0354	0.0028	0.0061	0.0026	0.0071	0.0071	0.0072	0.0070	0.0149	0.0067	0.0066	0.0140	0.0136	0.0149	0	0.0088	0.0092	0.0002	0.0002	0.0850	0.0032	0.0137	0.0033	0.018	0.55530	D	0.412	0.16328	T	0.004	0.41722	B	0.004	0.35687	B	.	.	.	.	0.0310938	0.81001	A	.	.	.	0.89	0.88847	T	-1.19	0.34596	N	0.462	0.63883	-0.5427	0.67062	T	0.220	0.58240	T	9	0.018208385	0.00394	T	.	.	.	0.272	0.58758	.	.	0.782186682139	0.78017	0.5485576590321062	0.54781	0.255360491483	0.28129	.	.	.	.	.	.	-0.375472	0.03326	T	-0.299792	0.44746	T	0.0266292465876057	0.01493	T	0.925707	0.72678	D	.	.	.	.	.	.	.	.	-4.356	0.32744	T	.	.	0.127	0.26917	B	.;.;.;.;.	.;.;.;.;.	2.734197	0.35793	19.99	0.99768232831970494	0.85666	0.99696	0.98747	D	AEFDBIJ	0.955079	0.97266	D	-0.143363625320167	0.35517	2.041124	0.0583927742227106	0.42479	2.570059	0.999999999991715	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.0	4.07	0.46726	6.872000	0.75336	7.421000	0.58716	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8521:0.1478	14.523	0.67449	893	0.26510	.;.;.;.;.	.	.	.	.	.	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	0.049849	0.116162	0.072011	0.052632	0.000000	0.008621	0.009146	0.000000	0.07143	715.44	39	chr10	86687073	.	G	A	715.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.35;DP=226;ExcessHet=0;FS=4.187;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=-1.09;SOR=0.197	GT:AD:DP:GQ:PL	0/1:15,25:40:99:726,0,342	6	0	1	0
chr10	90918982	90918989	AAATAAAT	-	intronic	ANKRD1	.	.	.	.	842	616	50	14	0	78	0.059542	.	.	.	54796	ANKRD1-related_dilated_cardiomyopathy|Congenital_total_pulmonary_venous_return_anomaly|Dilated_Cardiomyopathy,_Dominant|Cardiomyopathy|not_specified	MedGen:CN119551|Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN239310|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1838	0.3784	0.3143	0.2641	0.1161	0.1255	0.1525	0.1698	0.0018442	48	26028	rs397517250	0.0199	0.0488	0.0191	0.0206	0.1341	0.0197	0.0196	0.1295	0.1277	0.1341	0.0713	0.0184	0.0619	0.0178	0.0225	0.0121	0.0216	0.0519	0.0059	0.0292	0.0057	0.0060	0.0067	0.0055	0.0053	0.0060	0.0057	0.0060	0.0017	0.0034	0.0032	0.0062	0.0064	0.0051	0.0067	0.0016	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	47.45	1	chr10	90918981	.	AAAATAAAT	A	47.45	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.282;DP=132;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=5.27;ReadPosRankSum=-0.035;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:56:0|1:90918981_AAAATAAAT_A:56,0,282:90918981	4	0	1	2
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	.	323868	Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant	Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|.|MedGen:CN239310	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5518.63	1	chr10	90918983	.	AATAAATAAATATATATAT	A	5518.63	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.42;DP=181;ExcessHet=0.2119;FS=8.129;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.9;ReadPosRankSum=2.12;SOR=0.132	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,7:9:56:1|0:90918981_AAAATAAAT_A:429,86,56:90918981	1	0	4	2
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	1/1:0,29:29:87:776,87,0	0	5	2	0
chr11	2140200	2140200	G	A	exonic	IGF2	.	stopgain	IGF2:NM_001127598:exon2:c.C97T:p.Q33X	.	416	1102	4	0	0	4	0.00181159	.	.	.	730756	not_provided|Inborn_genetic_diseases|Wilms_tumor_1|Beckwith-Wiedemann_syndrome|Silver-Russell_syndrome_1|Silver-Russell_syndrome_3	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654|MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116|MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813|MONDO:MONDO:0014663,MedGen:C4225307,OMIM:616489	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	0.000798722	0.0007	0	0.0012	0	0.0003	0.0009	0	0.0009	0.0006792	105	154602	rs200441006	0.0011	0.0011	0.0011	0.0012	0.0013	0.0011	0.0011	0.0012	0.0012	8.964e-05	0.0008	0.0005	2.519e-05	7.55e-05	0.0003	0.0013	0.0010	0.0013	0.0007	0.0007	0.0007	0.0006	0.0014	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0014	0	0.0002	0.0002	0	0.0010	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.566	0.58968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157435	0.69963	D	0.407817	0.92363	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	1.850866	0.23511	16.05	0.99691291202444132	0.79977	0.15169	0.18778	N	AEFDBHCI	0.119758	0.23360	N	0.409517858981619	0.61944	4.402692	0.0797033656612907	0.43530	2.652803	0.999571511099646	0.40495	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	1.9	0.928	0.18569	1.099000	0.30625	1.455000	0.26636	0.504000	0.22967	0.033000	0.20612	0.903000	0.28003	0.987000	0.62547	0.2462:0.0:0.7538:0.0	3.812	0.08316	988	0.01987	.	.	.	.	.	.	Uncertain significance	1	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.1429	2107.24	37	chr11	2140200	.	G	A	2107.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.28;DP=406;ExcessHet=0.3476;FS=3.565;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=0.744;SOR=0.505	GT:AD:DP:GQ:PL	0/1:64,44:108:99:926,0,1522	5	0	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	1/1:0,136:136:99:.:.:4160,408,0:.	0	4	3	0
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	1/1:0,48:48:99:1508,144,0	0	5	2	0
chr11	17395957	17395957	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	445	728	343	0	1414	0.613715	.	.	.	167548	not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4704	0.421526	0.4583	0.7635	0.5950	0.1792	0.4136	0.4287	0.4590	0.3842	0.0121792	317	26028	rs739689	0.3432	0.3401	0.3432	0.3431	0.7497	0.3424	0.3420	0.7418	0.7385	0.7497	0.4335	0.4145	0.1096	0.2056	0.4979	0.3368	0.3619	0.3678	0.4400	0.4401	0.4495	0.4300	0.7292	0.4372	0.4361	0.7223	0.7195	0.7292	0.2325	0.4480	0.4173	0.0892	0.1976	0.4286	0.3364	0.4347	0.3522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	5191.26	31	chr11	17395957	.	A	G	5191.26	.	AC=9;AF=0.75;AN=12;BaseQRankSum=1.85;DP=219;ExcessHet=0;FS=5.611;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=30.18;ReadPosRankSum=-0.829;SOR=0.18	GT:AD:DP:GQ:PL	1/1:0,28:28:84:955,84,0	1	4	1	1
chr11	17396823	17396823	C	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	16	869	514	123	0	760	0.304243	.	.	.	1166870	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.215855	.	.	.	.	.	.	.	.	0.0387317	5988	154602	rs4148644	0.1966	0.1974	0.1962	0.1971	0.2811	0.1960	0.1958	0.2762	0.2742	0.2811	0.1956	0.2030	0.0815	0.1224	0.2608	0.1993	0.1943	0.2164	0.2111	0.2113	0.2172	0.2047	0.2771	0.2092	0.2084	0.2729	0.2711	0.2771	0.1327	0.2051	0.1967	0.0754	0.1226	0.2177	0.1980	0.2055	0.2143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2801.53	9	chr11	17396823	.	C	A	2801.53	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.12;DP=103;ExcessHet=0;FS=3.435;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.62;ReadPosRankSum=-0.7;SOR=2.33	GT:AD:DP:GQ:PL	1/1:0,27:27:81:981,81,0	3	3	1	0
chr11	17414293	17414293	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	703	213	106	500	0	1106	0.721932	.	.	.	1166871	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.904153	.	.	.	.	.	.	.	.	0.865875	22537	26028	rs4148632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8922	0.8921	0.8924	0.8919	0.9655	0.8882	0.8865	0.9576	0.9543	0.9655	0.9134	0.8980	0.8767	0.9122	0.8735	0.8163	0.8525	0.8925	0.8324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	759.85	.	chr11	17414293	.	A	G	759.85	.	AC=7;AF=0.7;AN=10;BaseQRankSum=-1.354;DP=42;ExcessHet=0;FS=0;MLEAC=8;MLEAF=0.8;MQ=60;MQRankSum=0;QD=23.03;ReadPosRankSum=0.481;SOR=0.569	GT:AD:DP:GQ:PL	1/1:0,9:9:27:294,27,0	1	3	1	2
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	0/1:12,13:25:99:423,0,285	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	0/1:15,20:35:99:557,0,347	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	1/1:0,53:53:99:1600,159,0	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	0/1:33,28:61:99:658,0,869	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	1/1:0,126:126:99:3841,378,0	2	4	1	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P,ABCC8:NM_001287174:exon2:c.T207C:p.P69P,ABCC8:NM_001351295:exon2:c.T207C:p.P69P,ABCC8:NM_001351296:exon2:c.T207C:p.P69P,ABCC8:NM_001351297:exon2:c.T207C:p.P69P	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	1	302	754	465	0	1684	0.736014	.	.	YES	167535	not_provided|Hyperinsulinemia|Hereditary_hyperinsulinism|Hyperinsulinemic_hypoglycemia,_familial,_1|not_specified|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Permanent_neonatal_diabetes_mellitus	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|.|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|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|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4768	0.439297	0.4740	0.4001	0.5634	0.3640	0.3196	0.5018	0.4502	0.4658	0.471094	72832	154602	rs1048099	0.4869	0.4869	0.4871	0.4867	0.6040	0.4859	0.4855	0.5873	0.5805	0.4017	0.5620	0.5426	0.3763	0.3261	0.6040	0.4976	0.4869	0.4688	0.4594	0.4596	0.4669	0.4516	0.5197	0.4566	0.4554	0.5101	0.5062	0.4018	0.5452	0.5197	0.5528	0.3808	0.3171	0.6497	0.5006	0.5081	0.4643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.599698	0.671717	0.631793	0.649123	0.550000	0.534483	0.521341	0.564394	0.4286	14186.4	33	chr11	17474969	.	A	G	14186.4	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.869;DP=916;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=-0.712;SOR=0.728	GT:AD:DP:GQ:PL	0/1:100,132:232:99:3163,0,2427	3	2	2	0
chr11	17629140	17629140	T	C	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon39:c.T6572C:p.V2191A,OTOG:NM_001292063:exon40:c.T6536C:p.V2179A	Deafness, autosomal recessive 18B, Autosomal recessive	9	1499	13	1	0	15	0.00497843	.	.	.	1559831	not_provided|OTOG-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.451	0.0920875826919	.	.	0.0006	0	0	0	0	0.0014	0.0052	0.0001	0.0001164	18	154602	rs770039471	0.0005	0.0005	0.0005	0.0005	0.0014	0.0005	0.0004	0.0007	0.0005	3.166e-05	0.0003	0.0020	0	0	0.0014	0.0005	0.0008	0.0001	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	7.241e-05	0	0.0002	0.0020	0	0	0	0.0004	0	0	0.038	0.42783	D	0.003	0.76473	D	.	.	.	.	.	.	0.008882	0.30616	N	0.256385	0.999826	0.49512	D	2.785	0.81254	M	-0.11	0.64445	T	-3.6	0.69357	D	0.632	0.74280	-0.3787	0.72692	T	0.378	0.73557	T	10	0.16611701	0.31030	T	0.092088	0.75827	D	0.451	0.75143	.	.	0.406668915854	0.40277	0.7002975342164074	0.69970	.	.	0.477145075798	0.35664	T	0.383224	0.74513	T	-0.046668	0.44952	T	0.0191315	0.71574	D	0.158410605399073	0.17753	T	0.712229	0.32360	T	0.3060879	0.53445	0.34957027	0.60580	0.3060879	0.53445	0.34957027	0.60580	-6.967	0.53792	T	.	.	0.210	0.46745	B	.;.	.;.	4.742533	0.76494	26.5	0.99840561408345907	0.92143	0.99128	0.91637	D	AEFBI	0.679314	0.64338	D	0.583002394821454	0.72115	5.755049	0.539530761147526	0.70672	5.539787	0.975825943528441	0.29668	0.594549	0.33734	0	0.59043	0.45803	0	0.597571	0.31856	0	0.530356	0.10902	0	.	.	5.28	5.28	0.74118	7.088000	0.76565	7.840000	0.70487	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.693000	0.33928	0.0:0.0:0.0:1.0	14.491	0.67235	677	0.60274	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1360.49	35	chr11	17629140	.	T	C	1360.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.811;DP=297;ExcessHet=0;FS=2.508;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.345;SOR=0.453	GT:AD:DP:GQ:PL	0/1:55,58:113:99:1371,0,1386	6	0	1	0
chr11	89284793	89284793	G	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon4:c.G1205A:p.R402Q	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	9	1058	383	72	0	527	0.199395	.	.	YES	18818	Oculocutaneous_albinism_type_1A|Malignant_tumor_of_breast|Oculocutaneous_albinism_type_1|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Melanoma,_cutaneous_malignant,_susceptibility_to,_8|Skin/hair/eye_pigmentation_3,_blue/green_eyes|Oculocutaneous_albinism_type_1B|Temperature-sensitive_oculocutaneous_albinism_type_1|Autosomal_recessive_ocular_albinism|Elevated_circulating_hepatic_transaminase_concentration|Albinism|Slow_decrease_in_visual_acuity|Abnormality_of_metabolism/homeostasis|Foveal_hypoplasia|Choroidal_neovascularization|not_provided|Albinism_or_congenital_nystagmus|not_specified	MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0018135,MedGen:C0268494,Orphanet:352731|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0013759,MedGen:C3152204,OMIM:614456,Orphanet:293822|MedGen:C3149136|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MONDO:MONDO:0018137,MedGen:C1847132,Orphanet:352737|MONDO:MONDO:0040653,MedGen:C0268503|Human_Phenotype_Ontology:HP:0001411,Human_Phenotype_Ontology:HP:0002910,Human_Phenotype_Ontology:HP:0003143,Human_Phenotype_Ontology:HP:0003156,Human_Phenotype_Ontology:HP:0003293,Human_Phenotype_Ontology:HP:0006567,Human_Phenotype_Ontology:HP:0006578,Human_Phenotype_Ontology:HP:0008267,Human_Phenotype_Ontology:HP:0008342,MedGen:C0235996|Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916|Human_Phenotype_Ontology:HP:0007652,Human_Phenotype_Ontology:HP:0007924,MedGen:C1853141|Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768|Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520|Human_Phenotype_Ontology:HP:0011506,MONDO:MONDO:0810000,MedGen:C0600518|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.695	.	0.2032	0.08127	0.1770	0.0463	0.0916	0.0001	0.1643	0.2648	0.1659	0.0608	0.179804	27798	154602	rs1126809	0.2537	0.2537	0.2597	0.2476	0.2948	0.2530	0.2527	0.2940	0.2937	0.0410	0.1059	0.2429	0.0003	0.1687	0.1920	0.2948	0.2402	0.0686	0.1771	0.1771	0.1855	0.1683	0.2791	0.1753	0.1746	0.2758	0.2744	0.0499	0.2104	0.1593	0.2389	0.0016	0.1587	0.2109	0.2791	0.1856	0.0621	0.029	0.45756	D	0.08	0.41913	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1.73264e-07	0.58761	P	2.33	0.66821	M	-4.81	0.98183	D	-1.82	0.42763	N	0.158	0.16447	-1.7609	0.00000	T	0.001	0.00467	T	8	0.0029481053	0.00048	T	.	.	.	0.695	0.88960	.	.	.	.	0.863477434631447	0.86311	0.0660713889884	0.07370	0.289043188095	0.08784	T	0.826304	0.95806	D	-0.0145316	0.49629	T	0.35017	0.90322	D	0.0174764102512555	0.00483	T	0.885611	0.61095	D	0.5661954	0.70851	0.34258145	0.59982	0.5661954	0.70852	0.34258145	0.59981	-5.31	0.40042	T	0.5023316321969571	0.57735	0.143	0.31381	B	.	.	4.835361	0.78885	27.0	0.99957571441372317	0.99986	0.98215	0.80611	D	AEFGI	0.951836	0.96675	D	0.68763707772779	0.78821	6.949664	0.655048704856478	0.78985	6.988198	0.999827743249958	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	7.561000	0.81256	8.710000	0.78133	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.625	0.87992	894	0.26265	Tyrosinase copper-binding domain	.	.	.	.	rs1126809	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.159341	0.110169	0.144231	0.105263	0.500000	0.258929	0.234127	0.192308	0.3571	2797.71	20	chr11	89284793	.	G	A	2797.71	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.13;DP=206;ExcessHet=0.4813;FS=0.648;MLEAC=5;MLEAF=0.357;MQ=59.89;MQRankSum=0;QD=16.85;ReadPosRankSum=0.225;SOR=0.613	GT:AD:DP:GQ:PL	0/1:15,22:37:99:585,0,318	3	1	3	0
chr11	103236469	103236469	A	G	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon63:c.A9749G:p.Q3250R,DYNC2H1:NM_001377:exon63:c.A9749G:p.Q3250R	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	11	1492	18	1	0	20	0.00665779	.	.	.	195492	Asphyxiating_thoracic_dystrophy_3|not_provided|Short_rib-polydactyly_syndrome|not_specified|Jeune_thoracic_dystrophy	MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271|MedGen:C3661900|MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505|MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.174	.	0.0012	0.00239617	0.0029	0.0002	0.0009	0	0	0.0022	0.0022	0.0116	0.002652	410	154602	rs140830294	0.0023	0.0024	0.0021	0.0026	0.0115	0.0023	0.0022	0.0109	0.0106	0.0002	0.0011	0.0131	0	0.0002	0.0112	0.0016	0.0031	0.0115	0.0019	0.0019	0.0020	0.0017	0.0114	0.0017	0.0016	0.0090	0.0081	0.0003	0	0.0026	0.0138	0	0.0002	0.0068	0.0017	0.0038	0.0114	0.282	0.19430	T	0.552	0.09393	T	0.065	0.37483	B	0.056	0.39069	B	0.000457	0.44317	D	0.198629	0.999991	0.81001	D	0.875	0.21512	L	1.65	0.38883	T	-2.25	0.50337	N	0.51	0.57946	-1.0627	0.11093	T	0.092	0.35119	T	10	0.009339243	0.00211	T	.	.	.	0.174	0.44019	.	.	0.716290961394	0.71379	0.6241017257502343	0.62343	0.0691000608039	0.07735	0.715855002403	0.69442	T	0.171879	0.52016	T	-0.361006	0.04073	T	-0.281941	0.46606	T	0.0231418284931443	0.01040	T	0.863414	0.55914	D	0.45513895	0.64367	0.37592888	0.62726	0.4375642	0.63245	0.43919477	0.67280	-9.413	0.70316	D	0.39480278463588137	0.48747	0.273	0.54529	B	.;.;.;.	.;.;.;.	3.637035	0.51552	23.1	0.996764475609072	0.78977	0.98797	0.86978	D	AEFI	0.909330	0.86581	D	0.186195066284451	0.50537	3.242698	0.36461638688929	0.59393	4.116746	0.99924527578784	0.38873	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.69	5.69	0.88346	8.800000	0.91521	.	.	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.990	0.79993	603	0.67726	.;.;.;.	.	.	.	.	.	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	0.008065	0.000000	0.008152	0.017647	0.050000	0.008621	0.000000	0.007576	0.1429	1215.04	34	chr11	103236469	.	A	G	1215.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.269;DP=231;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.641;SOR=0.669	GT:AD:DP:GQ:PL	0/1:18,25:43:99:560,0,383	5	0	2	0
chr11	121187967	121187967	C	T	exonic	TBCEL-TECTA;TECTA	.	synonymous SNV	TECTA:NM_005422:exon21:c.C6135T:p.C2045C,TBCEL-TECTA:NM_001378761:exon27:c.C7077T:p.C2359C	.	.	.	.	.	.	.	.	.	.	.	312852	Autosomal_recessive_nonsyndromic_hearing_loss_21|Autosomal_dominant_nonsyndromic_hearing_loss_12|not_provided	MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636|MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	9.9e-05	0	8.648e-05	0.0007	0	6.003e-05	0	6.065e-05	8.41e-05	13	154602	rs139552118	0.0001	0.0001	0.0001	9.901e-05	0.0002	8.915e-05	8.399e-05	0.0001	8.785e-05	0	0.0001	0	0.0002	3.744e-05	0.0002	0.0001	0.0001	3.478e-05	7.223e-05	7.218e-05	7.71e-05	6.713e-05	0.0002	3.968e-05	3.125e-05	3.762e-05	2.575e-05	2.406e-05	0	0.0001	0	0.0002	0	0	8.82e-05	0.0005	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	.	.	.	.	.	.	.	.	0.1429	1840.65	34	chr11	121187967	.	C	T	1840.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.585;DP=304;ExcessHet=0.3476;FS=3.742;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.969;SOR=0.461	GT:AD:DP:GQ:PL	0/1:45,41:86:99:954,0,999	5	0	2	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	0/1:27,10:37:99:163,0,706	2	0	5	0
chr12	6936728	6936728	-	CAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1461_1462insCAG:p.Q502_H503insQ,ATN1:NM_001940:exon5:c.1461_1462insCAG:p.Q502_H503insQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	590791	not_provided|ATN1-related_disorder|not_specified|Congenital_hypotonia,_epilepsy,_developmental_delay,_and_digital_anomalies|Dentatorubral-pallidoluysian_atrophy	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0032781,MedGen:C5193125,OMIM:618494|MONDO:MONDO:0007435,MedGen:C0751781,OMIM:125370,Orphanet:101	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs782630098	0.1617	0.1650	0.1615	0.1619	0.1725	0.1611	0.1609	0.1718	0.1716	0.0362	0.0998	0.1473	0.0520	0.1774	0.1004	0.1725	0.1471	0.1568	0.1358	0.1376	0.1347	0.1369	0.1844	0.1342	0.1335	0.1817	0.1805	0.0419	0.1196	0.1228	0.1698	0.0555	0.2089	0.1667	0.1844	0.1276	0.1640	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10575.4	39	chr12	6936728	.	A	ACAG	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	1/0:1,22:51:99:1889,1120,1092	6	0	1	0
chr12	6936729	6936743	CAGCAGCAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1462_1476del:p.Q498_Q502del,ATN1:NM_001940:exon5:c.1462_1476del:p.Q498_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1038180	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs377147612	0.1134	0.1126	0.1157	0.1112	0.1567	0.1130	0.1128	0.1534	0.1521	0.0199	0.0648	0.0455	0.1567	0.1585	0.0448	0.1218	0.1039	0.0489	0.0951	0.0940	0.0944	0.0957	0.1823	0.0937	0.0932	0.1722	0.1682	0.0275	0.0597	0.0884	0.0459	0.1823	0.1747	0.0417	0.1235	0.0954	0.0530	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10575.4	39	chr12	6936728	.	ACAGCAGCAGCAGCAG	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	0/1:1,28:51:99:1889,777,940	6	0	1	0
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	15	41	80	27	63	197	0.62037	.	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	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	0/1:24,19:46:99:365,0,485	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	1/1:0,16:16:48:573,48,0	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	1/1:0,54:54:99:1568,162,0	1	5	1	0
chr12	101753376	101753376	C	T	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon19:c.G3598A:p.E1200K	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	0	1456	64	2	0	68	0.0228188	.	.	YES	78998	not_specified|not_provided|Mucolipidosis_type_II|Pseudo-Hurler_polydystrophy	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576|MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.805	.	0.0005	0.00499201	0.0036	0	0.0011	0	0	0.0008	0.0055	0.0218	0.0030724	475	154602	rs137853825	0.0017	0.0017	0.0010	0.0023	0.0205	0.0016	0.0016	0.0197	0.0194	5.979e-05	0.0007	0.0010	0.0001	0	0.0092	0.0004	0.0018	0.0205	0.0010	0.0010	0.0007	0.0013	0.0180	0.0009	0.0008	0.0150	0.0138	9.623e-05	0	0.0008	0.0009	0	0	0	0.0007	0.0009	0.0180	0.027	0.46513	D	0.033	0.53072	D	0.819	0.45682	P	0.334	0.42203	B	0.000000	0.84330	D	0.050530	0.999999	0.58761	D	1.845	0.48678	L	-1.61	0.82254	D	-2.53	0.54864	D	0.786	0.78262	-0.0193	0.81853	T	0.485	0.80360	T	10	0.012164891	0.00262	T	.	.	.	0.805	0.93660	.	.	0.870031030802	0.86877	0.8155700713887672	0.81513	0.69644798922	0.60850	0.823489546776	0.85563	D	0.351569	0.71912	T	0.051382	0.58522	T	0.31795	0.89004	D	0.0724241623569362	0.08987	T	0.967703	0.88280	D	0.46982327	0.65279	0.314839	0.57473	0.4536473	0.64273	0.30533698	0.56560	-10.697	0.77970	D	0.7684051407325552	0.84961	0.378	0.58292	A	.	.	4.127183	0.61730	24.4	0.99816031481847278	0.89973	0.97083	0.72590	D	AEFBI	0.794909	0.72248	D	0.439006028940395	0.63583	4.594733	0.485958886029561	0.67058	5.033571	0.991746587260844	0.32594	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.69	4.8	0.61157	7.565000	0.81337	7.588000	0.61163	0.541000	0.25215	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.9303:0.0:0.0697	14.759	0.69210	470	0.78111	.	.	.	.	.	.	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	0.006546	0.000000	0.004076	0.011696	0.000000	0.000000	0.000000	0.026515	0.1429	1976.27	34	chr12	101753376	.	C	T	1976.27	.	AC=2;AF=0.143;AN=14;DP=258;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.4;SOR=1.758	GT:AD:DP:GQ:PL	1/1:0,65:65:99:1997,195,0	6	1	0	0
chr12	114684071	114684071	-	GAGA	UTR5	TBX3	NM_016569:c.-872_-871insTCTC;NM_005996:c.-872_-871insTCTC	.	.	Ulnar-mammary syndrome, Autosomal dominant	183	10	1	20	12	53	0.672131	.	.	.	329647	Ulnar-mammary_syndrome|not_provided|TBX3-related_disorder	MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.531749	.	.	.	.	.	.	.	.	0.000461	12	26028	rs112192237	0.3711	0.0814	0.3707	0.3715	0.4265	0.3674	0.3658	0.4036	0.3945	0.1648	0.4265	0.4241	0.3475	0.3793	0.4067	0.3834	0.3747	0.3964	0.4430	0.4427	0.4419	0.4441	0.6223	0.4401	0.4390	0.6117	0.6074	0.1855	0.3440	0.6223	0.6177	0.4456	0.4555	0.6092	0.5353	0.5029	0.5668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	386.5	.	chr12	114684071	.	G	GGAGA	386.5	.	AC=4;AF=0.667;AN=6;BaseQRankSum=1.04;DP=15;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=60;MQRankSum=0;QD=32.21;ReadPosRankSum=0.524;SOR=1.085	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0	1	2	0	4
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	0/1:54,39:93:99:827,0,1261	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	0/1:57,44:101:99:871,0,1609	4	0	3	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	0/1:84,78:162:99:1801,0,1882	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	0/1:11,7:18:99:.:.:267,0,436:.	3	0	4	0
chr13	38687876	38687876	C	A	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon1:c.C532A:p.Q178K	Fraser syndrome, Autosomal recessive	1	1503	18	0	0	18	0.00595238	.	.	.	319605	not_provided|Fraser_syndrome_2|Isolated_cryptophthalmia|FREM2-related_disorder	MedGen:C3661900|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.168	0.0124422121014	7.7e-05	.	0.0005	0	0.0014	0	0	0.0003	0	0.0015	0.0002523	39	154602	rs148774506	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0	0.0002	0.0030	0	0	0.0004	3.03e-05	0.0003	0.0012	0.0001	0.0001	7.705e-05	0.0001	0.0010	6.504e-05	5.317e-05	0.0004	0.0003	0	0	0.0001	0.0023	0	0	0	1.47e-05	0	0.0010	0.147	0.24955	T	0.114	0.36765	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.18	0.18875	T	-1.7	0.40468	N	0.783	0.77978	-1.1070	0.03340	T	0.062	0.25744	T	10	0.079720825	0.12856	T	0.012442	0.31014	T	0.168	0.42943	.	.	0.390060412749	0.38622	0.5399021231988141	0.53915	0.315621089703	0.33839	0.708732783794	0.68410	T	.	.	.	-0.281537	0.10505	T	-0.222737	0.52471	T	0.0642546956653411	0.07820	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.69464	P	.	.	3.771298	0.54171	23.5	0.99456474864214039	0.65581	0.95902	0.66648	D	AEFDBCI	0.838083	0.75564	D	0.326360227089557	0.57505	3.918081	0.42849369769751	0.63347	4.56663	1.0	0.98316	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.530356	0.10902	0	.	.	4.93	4.93	0.64394	7.457000	0.79807	7.642000	0.63248	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.339	0.90241	938	0.14419	.	.	.	.	.	.	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	0.003535	0.000000	0.001359	0.005882	0.000000	0.008621	0.006135	0.003788	0.07143	1745.44	34	chr13	38687876	.	C	A	1745.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.311;DP=335;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.187;SOR=0.719	GT:AD:DP:GQ:PL	0/1:82,72:154:99:1756,0,2081	6	0	1	0
chr13	38697797	38697797	C	T	intronic	FREM2	.	.	.	Fraser syndrome, Autosomal recessive	1	1506	15	0	0	15	0.0049554	.	.	.	872329	Fraser_syndrome_2|FREM2-related_disorder|not_provided	MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0004	0	0	3.12e-05	0	0.0006	9.7e-05	15	154602	rs781240147	5.874e-05	6.237e-05	3.833e-05	7.901e-05	0.0007	4.805e-05	4.451e-05	0.0006	0.0005	0	6.729e-05	0	0	0	0.0004	1.078e-05	3.502e-05	0.0007	6.576e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	636.27	32	chr13	38697797	.	C	T	636.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.762;DP=203;ExcessHet=0;FS=1.142;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.673;SOR=0.498	GT:AD:DP:GQ:PL	0/1:21,25:46:99:646,0,529	5	0	1	1
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	0/1:85,108:193:99:2711,0,1837	2	0	5	0
chr14	23419114	23419114	-	G	intronic	MYH7	.	.	.	Cardiomyopathy, dilated, 1S, Autosomal dominant;Cardiomyopathy, hypertrophic, 1, Autosomal dominant;Laing distal myopathy, Autosomal dominant;Left ventricular noncompaction 5, Autosomal dominant;Myopathy, myosin storage, autosomal dominant, Autosomal dominant;Myopathy, myosin storage, autosomal recessive, Autosomal recessive;Scapuloperoneal syndrome, myopathic type, Autosomal dominant	26	775	566	155	0	876	0.361088	.	.	.	45302	not_provided|Primary_familial_hypertrophic_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.337061	.	.	.	.	.	.	.	.	0.0472115	7299	154602	rs34598192	0.3369	0.3402	0.3403	0.3337	0.6339	0.3361	0.3357	0.6261	0.6230	0.6339	0.1960	0.3975	0.0549	0.2711	0.3041	0.3586	0.3420	0.2235	0.4076	0.4081	0.4199	0.3948	0.6311	0.4049	0.4038	0.6247	0.6221	0.6311	0.4068	0.2827	0.3834	0.0797	0.2623	0.3103	0.3624	0.4006	0.2148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	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	0/1:36,34:70:99:1131,0,1243	5	0	2	0
chr14	45189246	45189246	A	G	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon19:c.A5146G:p.I1716V,FANCM:NM_020937:exon20:c.A5224G:p.I1742V	.	0	1478	43	1	0	45	0.014995	.	.	.	241842	not_provided|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|Spermatogenic_failure_28|not_specified	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	.	0.0107	0.00379393	0.0084	0.0025	0.0046	0	0.0068	0.0124	0.0154	0.0033	0.0085445	1321	154602	rs143662421	0.0110	0.0110	0.0110	0.0109	0.0156	0.0108	0.0108	0.0130	0.0122	0.0021	0.0066	0.0221	0	0.0062	0.0156	0.0124	0.0102	0.0030	0.0081	0.0081	0.0081	0.0082	0.0123	0.0078	0.0076	0.0116	0.0114	0.0021	0.0011	0.0075	0.0196	0	0.0083	0	0.0123	0.0128	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.003992	0.00997	N	2.866430	1	0.08975	N	-1.445	0.00556	N	-1.04	0.76561	T	-0.02	0.07299	N	0.015	0.02759	-1.0016	0.29459	T	0.012	0.04747	T	10	0.002847463	0.00045	T	.	.	.	0.104	0.29647	.	.	0.387689773709	0.38380	0.16266016780335998	0.16186	0.0709891166368	0.07957	0.213881358504	0.00987	T	0.042364	0.26159	T	-0.579935	0.00193	T	-0.593489	0.13365	T	0.000540782962682599	0.00005	T	0.535446	0.18256	T	0.017791519	0.00303	0.019717433	0.00101	0.015336468	0.00134	0.019717433	0.00101	-3.057	0.10809	T	.	.	0.061	0.03588	B	.;.;.	.;.;.	-0.965696	0.00821	0.028	0.21707546184443752	0.00840	0.00289	0.01551	N	AEFBI	0.017613	0.00474	N	-1.1622995366987	0.05580	0.2547613	-1.22811695106787	0.05462	0.2603458	0.227148894049014	0.18423	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.26	-2.26	0.06478	-0.432000	0.07026	-2.425000	0.03770	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.802000	0.37819	0.2872:0.1195:0.4341:0.1592	1.410	0.02152	840	0.37365	.;.;.	.	.	.	.	.	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	0.014099	0.035354	0.016304	0.005848	0.050000	0.000000	0.018293	0.000000	0.08333	795.27	33	chr14	45189246	.	A	G	795.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.566;DP=245;ExcessHet=0;FS=3.357;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-1.813;SOR=1.164	GT:AD:DP:GQ:PL	0/1:36,32:68:99:805,0,863	5	0	1	1
chr14	94379499	94379499	C	T	exonic	SERPINA1	.	nonsynonymous SNV	SERPINA1:NM_000295:exon4:c.G1030A:p.G344R,SERPINA1:NM_001002235:exon4:c.G1030A:p.G344R,SERPINA1:NM_001127700:exon4:c.G1030A:p.G344R,SERPINA1:NM_001127702:exon5:c.G1030A:p.G344R,SERPINA1:NM_001127706:exon5:c.G1030A:p.G344R,SERPINA1:NM_001127707:exon5:c.G1030A:p.G344R,SERPINA1:NM_001002236:exon6:c.G1030A:p.G344R,SERPINA1:NM_001127701:exon6:c.G1030A:p.G344R,SERPINA1:NM_001127703:exon6:c.G1030A:p.G344R,SERPINA1:NM_001127704:exon6:c.G1030A:p.G344R,SERPINA1:NM_001127705:exon6:c.G1030A:p.G344R	Emphysema due to AAT deficiency, Autosomal recessive;Emphysema-cirrhosis, due to AAT deficiency, Autosomal recessive;Hemorrhagic diathesis due to antithrombin Pittsburgh, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	YES	1836203	Inborn_genetic_diseases|Alpha-1-antitrypsin_deficiency	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013282,MedGen:C0221757,OMIM:613490,Orphanet:60	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.762	0.107581191031	7.7e-05	.	4.943e-05	0	0	0	0	8.993e-05	0	0	4.53e-05	7	154602	rs367797069	6.362e-05	6.43e-05	5.445e-05	7.288e-05	0.0002	5.294e-05	4.911e-05	9.791e-05	7.838e-05	0	0.0002	0	0	0	0.0002	6.205e-05	3.311e-05	0.0002	7.233e-05	8.534e-05	7.718e-05	6.726e-05	0.0002	3.974e-05	3.129e-05	2.848e-05	1.859e-05	2.412e-05	0	0.0001	0	0.0002	0	0	7.356e-05	0.0009	0	0.001	0.78490	D	0.023	0.57104	D	0.996	0.90584	D	0.911	0.65999	D	0.000002	0.62929	D	0.000000	0.99565	0.42792	D	2.98	0.85499	M	-2.57	0.89692	D	-7.6	0.95336	D	0.95	0.95841	0.691	0.93060	D	0.787	0.92768	D	10	0.94071347	0.93397	D	0.107581	0.78371	D	0.762	0.91920	0.72	0.85496	0.997593593938	0.99756	0.6274682892323759	0.62679	0.331718741098	0.35239	0.540324211121	0.44491	T	0.517516	0.83063	D	0.377458	0.88542	D	0.304416	0.88399	D	0.854418218135834	0.50550	D	0.683132	0.31438	T	0.83695054	0.86391	0.61359364	0.77513	0.72296965	0.79329	0.6122196	0.77439	-7.074	0.54573	T	0.4408309079602398	0.52636	0.250	0.55637	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.639281	0.51593	23.1	0.9988476834970712	0.96049	0.90770	0.52227	D	AEFDBHCI	0.868654	0.78887	D	0.408016156720055	0.61862	4.393195	0.270992260540872	0.53852	3.552	0.99999993837138	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.38	4.5	0.54382	2.987000	0.49066	1.718000	0.28241	-0.173000	0.11020	0.876000	0.30908	0.028000	0.21151	0.020000	0.11549	0.0:0.915:0.0:0.085	11.494	0.49646	917	0.20147	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	838.49	59	chr14	94379499	.	C	T	838.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.21;DP=414;ExcessHet=0;FS=2.966;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.695;SOR=1.03	GT:AD:DP:GQ:PL	0/1:49,34:83:99:849,0,1176	6	0	1	0
chr15	34791308	34791309	CA	-	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	331628	Left_ventricular_noncompaction_cardiomyopathy|Hypertrophic_cardiomyopathy|ACTC1-related_disorder|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878999773	0.0400	0.0650	0.0387	0.0414	0.1059	0.0397	0.0396	0.1026	0.1012	0.1059	0.0429	0.0498	0.0686	0.0444	0.0438	0.0352	0.0462	0.0477	0.0616	0.0637	0.0625	0.0606	0.1227	0.0605	0.0601	0.1197	0.1185	0.1227	0.0508	0.0364	0.0430	0.0340	0.0361	0.0468	0.0408	0.0631	0.0352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	7634.8	29	chr15	34791307	.	TCA	T	7634.8	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.58;DP=701;ExcessHet=2.5225;FS=3.743;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=21.21;ReadPosRankSum=0.754;SOR=0.94	GT:AD:DP:GQ:PL	1/0:0,27:93:99:2975,2226,2121	5	0	2	0
chr15	50968263	50968263	G	A	exonic	AP4E1	.	nonsynonymous SNV	AP4E1:NM_001252127:exon15:c.G1627A:p.V543I,AP4E1:NM_007347:exon15:c.G1852A:p.V618I	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	0	1517	5	0	0	5	0.00164528	0.9963	0.82	.	242086	Spastic_paraplegia|not_provided|Hereditary_spastic_paraplegia_51	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900|MONDO:MONDO:0013401,MedGen:C3151056,OMIM:613744,Orphanet:280763	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.149	0.0165991037787	0.0003	0.000199681	0.0005	0	0.0004	0.0002	0.0002	0.0006	0	0.0003	0.000304	47	154602	rs142215198	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0004	3.009e-05	0.0003	3.834e-05	2.535e-05	1.881e-05	0.0002	0.0004	0.0004	0.0001	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0005	0.0004	7.234e-05	0	0.0002	0	0.0002	0	0	0.0006	0.0014	0	0.162	0.23541	T	0.022	0.57587	D	0.548	0.38076	P	0.232	0.38314	B	0.000006	0.62929	D	0.062472	0.999999	0.58761	D	2.135	0.59519	M	1.92	0.23082	T	-0.45	0.14782	N	0.448	0.48872	-1.0914	0.05303	T	0.069	0.28147	T	9	0.1991618	0.35915	T	0.016599	0.37934	T	0.149	0.39377	.	.	0.368394457434	0.36455	0.20972529457826386	0.20888	0.287247929868	0.31124	0.423228561878	0.28281	T	0.07555	0.35204	T	-0.422686	0.01645	T	-0.499998	0.22347	T	0.0797087868909961	0.09950	T	0.871013	0.57621	D	0.0794681	0.18155	0.07723878	0.17185	0.06665487	0.14361	0.08401861	0.19298	-4.004	0.23864	T	.	.	0.110	0.23255	B	.;.	.;.	4.219653	0.63816	24.6	0.99598782738263925	0.74042	0.97635	0.76055	D	AEFBI	0.843867	0.76086	D	0.313770668790497	0.56855	3.850984	0.380681899120787	0.60373	4.224306	0.999975753900648	0.50053	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.71	4.71	0.59010	8.340000	0.89951	8.591000	0.77687	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	16.672	0.85127	260	0.89800	.;.	.	.	.	.	.	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	774.83	34	chr15	50968263	.	G	A	774.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.884;DP=212;ExcessHet=0;FS=2.778;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=-1.045;SOR=0.374	GT:AD:DP:GQ:PL	0/1:16,31:47:99:785,0,425	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	1/1:0,92:92:99:2468,275,0	0	7	0	0
chr15	68207979	68207979	-	AC	UTR3	CLN6	NM_017882:c.*160_*161insGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	323238	not_provided|Neuronal_Ceroid-Lipofuscinosis,_Recessive	MedGen:C3661900|MedGen:CN239323	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.334465	.	.	.	.	.	.	.	.	0.0030352	79	26028	rs138882836	0.3617	0.3201	0.3572	0.3657	0.5137	0.3603	0.3597	0.5067	0.5038	0.1449	0.3834	0.3623	0.5137	0.3802	0.3685	0.3407	0.3479	0.4469	0.3749	0.3760	0.3645	0.3859	0.7752	0.3723	0.3712	0.7549	0.7466	0.1625	0.5408	0.4370	0.4553	0.7752	0.4773	0.4041	0.4204	0.3920	0.6213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	648.83	5	chr15	68207979	.	G	GAC	648.83	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.04;DP=23;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=32.44;ReadPosRankSum=-1.645;SOR=1.501	GT:AD:DP:GQ:PL	0/1:3,2:5:56:56,0,92	2	1	2	2
chr15	82538982	82538982	A	G	exonic	RPS17	.	synonymous SNV	RPS17:NM_001021:exon3:c.T159C:p.Y53Y	Diamond-Blackfan anemia 4, Autosomal dominant	21	707	596	198	0	992	0.412303	.	.	YES	409353	Diamond-Blackfan_anemia|not_specified	Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs6991	0.3098	0.3099	0.3048	0.3149	0.4205	0.3091	0.3088	0.4169	0.4154	0.1579	0.1629	0.3116	0.2790	0.3769	0.3362	0.3093	0.3116	0.4205	0.2641	0.2643	0.2614	0.2669	0.4165	0.2619	0.2610	0.4013	0.3951	0.1651	0.3936	0.2043	0.2966	0.2364	0.3693	0.3605	0.3087	0.2768	0.4165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.1667	1701.92	35	chr15	82538982	.	A	G	1701.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.851;DP=311;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.808;SOR=0.696	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1152,0,1047	4	0	2	1
chr16	10923958	10923958	T	C	UTR3	CIITA	NM_000246:c.*103T>C;NM_001286402:c.*103T>C;NM_001286403:c.*103T>C	.	.	Bare lymphocyte syndrome, type II, complementation group A, Autosomal recessive	1124	394	2	2	0	6	0.00755668	.	.	.	340411	MHC_class_II_deficiency|not_provided	MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00339457	.	.	.	.	.	.	.	.	0.0015977	247	154602	rs45617532	0.0111	0.0014	0.0139	0.0095	0.0107	0.0062	0.0048	0.0042	0.0027	0	0	0	0	0.0139	0	0.0107	0	0	0.0071	0.0071	0.0076	0.0067	0.0114	0.0068	0.0066	0.0108	0.0105	0.0017	0.0077	0.0048	0.0072	0	0.0062	0.0272	0.0114	0.0080	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	203.97	1	chr16	10923958	.	T	C	203.97	.	AC=2;AF=0.167;AN=12;DP=28;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=25.5;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,8:8:24:220,24,0	5	1	0	1
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	0/1:75,25:109:99:289,0,1571	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	0/1:14,5:19:61:.:.:61,0,268:.	0	0	6	1
chr16	23635536	23635536	A	G	exonic	PALB2	.	nonsynonymous SNV	PALB2:NM_024675:exon4:c.T1010C:p.L337S	Fanconi anemia, complementation group N	0	1515	6	1	0	8	0.00263331	.	.	YES	132092	Breast_and/or_ovarian_cancer|not_specified|Familial_cancer_of_breast|not_provided|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia_complementation_group_N|Malignant_tumor_of_breast	MedGen:CN221562|MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0012565,MedGen:C1835817,OMIM:610832,Orphanet:84|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	.	0.0142	0.00678914	0.0143	0.0031	0.0050	0	0.0429	0.0192	0.0132	0.0038	0.0136997	2118	154602	rs45494092	0.0191	0.0191	0.0196	0.0186	0.0212	0.0189	0.0188	0.0210	0.0209	0.0028	0.0064	0.0054	2.519e-05	0.0448	0.0019	0.0212	0.0178	0.0035	0.0146	0.0146	0.0143	0.0148	0.0211	0.0141	0.0138	0.0202	0.0199	0.0039	0	0.0095	0.0035	0	0.0399	0.0034	0.0211	0.0080	0.0035	0.134	0.27310	T	0.018	0.59732	D	0.291	0.32334	B	0.177	0.35687	B	0.084090	0.20716	N	0.349316	1	0.08975	N	1.3	0.32576	L	2.31	0.16794	T	-1.17	0.38540	N	0.065	0.12341	-1.0536	0.13413	T	0.016	0.06664	T	10	0.0021042824	0.00030	T	.	.	.	0.041	0.10877	.	.	.	.	0.2520256021157597	0.25116	0.0771687186635	0.08669	0.282726287842	0.07876	T	0.024852	0.56930	T	-0.518781	0.00447	T	-0.498373	0.22517	T	0.00780759883445125	0.00091	T	0.528347	0.17454	T	0.074138366	0.16617	0.08685165	0.20148	0.06285316	0.13171	0.09290859	0.21917	-3.553	0.17182	T	0.1910852699847309	0.25058	0.137	0.29806	B	.;.	.;.	1.140085	0.15271	11.72	0.99068734776402445	0.51668	0.13321	0.17790	N	AEFBI	0.051050	0.08981	N	-0.595661870477096	0.19076	0.9955424	-0.691817643504406	0.17164	0.9114745	0.165814554875963	0.17662	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.86	2.61	0.30255	0.842000	0.27280	2.964000	0.35768	0.754000	0.88378	0.001000	0.13787	0.016000	0.20520	0.745000	0.35611	0.8176:0.0:0.1824:0.0	6.778	0.22816	380	0.83728	.;.	.	.	.	.	rs45494092	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	1176.53	33	chr16	23635536	.	A	G	1176.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.955;DP=296;ExcessHet=0;FS=0.705;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.517;SOR=0.8	GT:AD:DP:GQ:PL	0/1:66,48:114:99:1187,0,1781	6	0	1	0
chr16	50722629	50722629	G	C	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon7:c.G2641C:p.G881R,NOD2:NM_001370466:exon8:c.G2641C:p.G881R,NOD2:NM_022162:exon8:c.G2722C:p.G908R	Blau syndrome, Autosomal dominant	0	1447	69	3	3	78	0.025261	.	.	.	19731	Inflammatory_bowel_disease_1|Blau_syndrome|not_provided|not_specified|Regional_enteritis|Psoriatic_arthritis,_susceptibility_to|Yao_syndrome|Autoinflammatory_syndrome	MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MedGen:C3661900|MedGen:CN169374|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0100232,MedGen:C1835223,OMIM:607507|MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|association	.	.	.	.	.	.	.	.	0.108	.	0.0102	0.00459265	0.0099	0.0013	0.0071	0	0.0026	0.0141	0.0154	0.0083	0.0096894	1498	154602	rs2066845	0.0131	0.0132	0.0130	0.0133	0.0380	0.0130	0.0129	0.0338	0.0323	0.0023	0.0085	0.0423	5.038e-05	0.0029	0.0380	0.0141	0.0135	0.0091	0.0103	0.0104	0.0106	0.0100	0.0147	0.0099	0.0097	0.0139	0.0136	0.0027	0.0022	0.0138	0.0432	0	0.0025	0.0238	0.0147	0.0161	0.0062	0.0	0.91255	D	0.008	0.67890	D	0.998	0.90584	D	0.986	0.76916	D	0.000329	0.45700	D	0.137455	0.999972	0.53665	D	0.985	0.24966	L	0.57	0.54347	T	-5.82	0.88289	D	0.748	0.74735	-0.6961	0.60624	T	0.138	0.45508	T	10	0.010364234	0.00231	T	.	.	.	0.343	0.66488	.	.	.	.	0.5552220685344174	0.55449	0.543973793006	0.51462	0.639326453209	0.58468	T	0.246023	0.61542	T	-0.0755688	0.40431	T	0.135594	0.79259	D	0.0287640030574061	0.01801	T	0.768023	0.39669	T	0.8308712	0.85963	0.8893869	0.94223	0.8272104	0.85711	0.89788145	0.94825	-7.639	0.58582	D	0.7701228907073245	0.85119	0.742	0.79764	P	.;.	.;.	4.687193	0.75062	26.3	0.99930967160495277	0.99387	0.93656	0.58818	D	AEFBI	0.678290	0.64270	D	0.773275856692237	0.84410	8.280031	0.780502591572662	0.88404	9.570225	0.999942795872936	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.91	5.91	0.95240	4.498000	0.60095	9.841000	0.81924	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	15.796	0.78185	679	0.60090	.;.	RP11-327F22.1|RP11-327F22.1|RP11-327F22.1|RP11-327F22.1|RP11-327F22.1	Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Lung|Thyroid	.	.	rs2066845	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	.	.	.	.	.	.	.	.	0.1429	3455.24	34	chr16	50722629	.	G	C	3455.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.702;DP=451;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.8;SOR=0.705	GT:AD:DP:GQ:PL	0/1:63,66:129:99:1536,0,1411	5	0	2	0
chr16	72959900	72959900	G	A	exonic	ZFHX3	.	synonymous SNV	ZFHX3:NM_006885:exon2:c.C246T:p.N82N	.	408	1087	26	1	0	28	0.0127157	.	.	.	797408	not_provided|ZFHX3-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0028	0.000798722	0.0032	0.0005	0.0020	0	0	0.0045	0.0041	0.0038	0.0026584	411	154602	rs62640000	0.0022	0.0023	0.0021	0.0024	0.0080	0.0022	0.0021	0.0062	0.0055	6.018e-05	0.0013	0.0425	5.067e-05	0	0.0080	0.0013	0.0049	0.0041	0.0024	0.0024	0.0026	0.0023	0.0031	0.0022	0.0022	0.0024	0.0021	0.0003	0	0.0031	0.0449	0	0	0	0.0018	0.0085	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	0.005572	0.005319	0.001359	0.005848	0.000000	0.000000	0.021605	0.000000	0.07143	396.63	34	chr16	72959900	.	G	A	396.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.72;DP=222;ExcessHet=0;FS=5.649;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.634;SOR=1.378	GT:AD:DP:GQ:PL	0/1:14,15:29:99:407,0,317	6	0	1	0
chr16	88721827	88721827	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon37:c.C5195T:p.T1732M	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	408	1031	79	4	0	87	0.0404839	.	.	.	1181440	not_specified|not_provided|Dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and/or_perinatal_edema|Lymphatic_malformation_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008689,MedGen:C4551512,OMIM:194380,Orphanet:3202|MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843,Orphanet:568062	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.287	.	0.0068	0.0091853	0.0227	0.0016	0.0238	0	0	0.0106	0.0270	0.0353	0.0035058	542	154602	rs139051768	0.0113	0.0108	0.0105	0.0121	0.0310	0.0111	0.0111	0.0300	0.0296	0.0018	0.0085	0.0028	2.8e-05	0.0020	0.0225	0.0111	0.0124	0.0310	0.0082	0.0082	0.0078	0.0087	0.0288	0.0079	0.0077	0.0249	0.0234	0.0023	0.0011	0.0136	0.0029	0.0002	0.0021	0.0238	0.0110	0.0104	0.0288	0.124	0.27426	T	0.179	0.29540	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	2.43	0.70455	M	1.64	0.27822	T	-4.14	0.75220	D	0.236	0.26596	-0.8337	0.53061	T	0.143	0.46440	T	10	0.008827269	0.00200	T	.	.	.	0.287	0.60574	.	.	.	.	0.8275877639731726	0.82716	.	.	0.723132669926	0.70503	T	0.136555	0.46899	T	-0.320359	0.06868	T	-0.209265	0.53765	T	0.0154267441708618	0.00346	T	0.711729	0.32279	T	0.19427642	0.41172	0.21956755	0.46701	0.19427642	0.41172	0.21956755	0.46700	-8.997	0.67678	D	0.2421464060211977	0.32799	0.098	0.16143	B	.	.	4.477908	0.69836	25.4	0.99344485973975294	0.60331	0.96787	0.70937	D	AEFDGBCI	0.770515	0.70544	D	0.570636715526822	0.71347	5.637105	0.498873009906848	0.67916	5.148483	0.999990982311223	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.84	3.88	0.43959	6.157000	0.71647	3.915000	0.40434	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.713000	0.34548	0.0:0.0:0.851:0.149	14.422	0.66765	873	0.30802	.	.	.	.	.	.	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	0.019370	0.012048	0.026667	0.050000	0.000000	0.000000	0.012346	0.011111	0.07143	1654.44	39	chr16	88721827	.	G	A	1654.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.94;DP=427;ExcessHet=0;FS=6.818;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=-0.568;SOR=1.179	GT:AD:DP:GQ:PL	0/1:98,68:166:99:1665,0,2353	6	0	1	0
chr16	88723301	88723301	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon32:c.G4363A:p.A1455T	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	382	1133	7	0	0	7	0.00307963	.	.	.	703890	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	.	.	0.00119808	0.0024	0	0	0	0.0122	0.0036	0.0062	0.0018	0.0004657	72	154602	rs191656121	0.0015	0.0014	0.0014	0.0016	0.0053	0.0014	0.0014	0.0038	0.0033	0.0001	0.0006	0.0002	0.0006	0.0016	0.0053	0.0016	0.0012	0.0014	0.0016	0.0016	0.0017	0.0015	0.0028	0.0014	0.0014	0.0025	0.0023	0.0001	0	0.0007	0	0.0012	0.0010	0.0068	0.0028	0.0024	0.0025	0.485	0.08115	T	0.038	0.51421	D	0.343	0.33512	B	0.035	0.22741	B	0.000890	0.41231	D	0.200054	0.930638	0.36964	D	1.785	0.46417	L	-0.71	0.72889	T	-1.15	0.29525	N	0.223	0.25006	-0.8457	0.52263	T	0.206	0.56431	T	10	0.004822403	0.00102	T	.	.	.	0.081	0.23632	.	.	0.134007934775	0.12933	0.1714602444143789	0.17066	.	.	0.516444385052	0.41126	T	0.072419	0.34450	T	-0.423406	0.01628	T	-0.383075	0.35361	T	0.0125514325208221	0.00208	T	0.825517	0.48813	T	0.084059775	0.19440	0.09396206	0.22219	0.084059775	0.19439	0.09396206	0.22219	-5.355	0.40484	T	0.10148391091314822	0.07607	0.089	0.12323	B	.	.	3.390508	0.46937	22.4	0.99882234198270403	0.95813	0.76538	0.37545	D	AEFDBCI	0.268612	0.38506	N	0.10048653159397	0.46485	2.88814	0.130408842044348	0.46112	2.862587	0.988704923019811	0.31601	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.1	4.09	0.47038	0.636000	0.24333	3.957000	0.40718	0.599000	0.40250	0.138000	0.23473	0.999000	0.35428	0.977000	0.56843	0.0:0.7677:0.1478:0.0845	9.444	0.37852	873	0.30802	Piezo domain	.	.	.	.	.	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	0.005917	0.000000	0.012195	0.007143	0.000000	0.000000	0.000000	0.011628	0.07143	388.83	34	chr16	88723301	.	C	T	388.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.092;DP=227;ExcessHet=0;FS=1.06;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=0.016;SOR=0.507	GT:AD:DP:GQ:PL	0/1:37,21:58:99:399,0,876	6	0	1	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	.	.	.	.	.	.	.	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	0/1:47,24:78:60:60,0,872	1	0	5	1
chr17	17215284	17215284	C	T	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144997:exon12:c.G1333A:p.A445T,FLCN:NM_001353230:exon13:c.G1333A:p.A445T,FLCN:NM_001353231:exon13:c.G1333A:p.A445T,FLCN:NM_001353229:exon14:c.G1387A:p.A463T	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	0	1493	28	1	0	30	0.00994695	.	.	YES	18409	Hereditary_cancer-predisposing_syndrome|not_specified|Birt-Hogg-Dube_syndrome|not_provided|Birt-Hogg-Dube_syndrome_1|Familial_spontaneous_pneumothorax|Colorectal_cancer|Nonpapillary_renal_cell_carcinoma|17p11.2_microduplication_syndrome|Carcinoma_of_colon	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MedGen:C3661900|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|Gene:100038247,MONDO:MONDO:0012574,MedGen:C2931246,OMIM:610883,Orphanet:1713|MONDO:MONDO:0002032,MedGen:C0699790	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.203	0.0604308747319	0.0019	0.000798722	0.0027	0.0005	0.0013	0	0.0008	0.0037	0.0022	0.0033	0.0026132	404	154602	rs41419545	0.0030	0.0030	0.0029	0.0031	0.0132	0.0029	0.0029	0.0108	0.0099	0.0005	0.0021	0.0024	0	0.0007	0.0132	0.0032	0.0032	0.0040	0.0024	0.0024	0.0025	0.0023	0.0059	0.0022	0.0022	0.0049	0.0045	0.0003	0	0.0059	0.0035	0.0002	0.0005	0.0204	0.0033	0.0043	0.0023	0.87	0.02606	T	0.553	0.09329	T	0.0	0.02946	B	0.0	0.01387	B	0.257102	0.15389	N	0.695908	1	0.08975	N	-1.04	0.01097	N	-2.99	0.92108	D	0.19	0.04947	N	0.205	0.22742	-0.5684	0.66079	T	0.295	0.66640	T	10	0.004835129	0.00103	T	0.060431	0.67999	D	0.203	0.48915	.	.	0.187035705434	0.18338	0.2022582816453621	0.20142	0.356774467599	0.37413	0.292996585369	0.09360	T	0.30576	0.67800	T	-0.477074	0.00770	T	-0.459533	0.26650	T	0.00136713459327549	0.00014	T	0.59684	0.22194	T	0.023952244	0.01180	0.045600146	0.06172	0.03681238	0.04600	0.042168256	0.04959	-3.216	0.12677	T	0.08208204089075731	0.04303	0.064	0.01762	B	.	.	-0.579733	0.01628	0.113	0.74823135621684544	0.10840	0.01028	0.03857	N	AEFDGBI	0.025846	0.01838	N	-1.83791171747947	0.00459	0.01974575	-1.83918489512921	0.00641	0.02852158	0.980657301027315	0.30161	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.66	-7.45	0.01229	-0.032000	0.12217	-3.274000	0.02915	-0.773000	0.03420	0.049000	0.21372	0.000000	0.08366	0.000000	0.00833	0.0:0.2869:0.3329:0.3802	7.727	0.27930	759	0.50631	Folliculin, C-terminal|Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	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	0.011581	0.005051	0.017663	0.020468	0.000000	0.008621	0.000000	0.007576	0.07143	1202.44	34	chr17	17215284	.	C	T	1202.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.375;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.275;SOR=0.751	GT:AD:DP:GQ:PL	0/1:44,54:98:99:1213,0,978	6	0	1	0
chr17	18118854	18118854	G	A	exonic	MYO15A	.	synonymous SNV	MYO15A:NM_016239:exon2:c.G54A:p.K18K	Deafness, autosomal recessive 3, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	256094	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_3	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0012	0.000798722	0.0017	0.0004	0.0004	0	0	0.0024	0.0028	0.0019	0.0014036	217	154602	rs144909486	0.0023	0.0023	0.0024	0.0023	0.0027	0.0023	0.0022	0.0026	0.0025	0.0004	0.0008	0.0054	0	3.759e-05	0.0021	0.0027	0.0023	0.0014	0.0014	0.0014	0.0015	0.0013	0.0022	0.0013	0.0012	0.0019	0.0018	0.0003	0.0263	0.0005	0.0032	0	0.0003	0.0102	0.0022	0.0009	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	0.003525	0.000000	0.004087	0.000000	0.000000	0.000000	0.009146	0.003788	0.07143	723.83	35	chr17	18118854	.	G	A	723.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.313;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.672;SOR=0.676	GT:AD:DP:GQ:PL	0/1:31,33:64:99:734,0,740	6	0	1	0
chr17	18130817	18130817	-	GT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327562	not_specified|Hearing_loss,_autosomal_recessive|not_provided	MedGen:CN169374|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs1491181087	0.0508	0.0762	0.0487	0.0530	0.0674	0.0505	0.0503	0.0640	0.0633	0.0610	0.0556	0.0884	0.0385	0.0916	0.0674	0.0454	0.0670	0.0656	0.1518	0.1577	0.1527	0.1507	0.1608	0.1497	0.1488	0.1564	0.1547	0.1608	0.1330	0.1588	0.1560	0.0561	0.1838	0.1758	0.1499	0.1741	0.1314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3134.63	20	chr17	18130817	.	A	AGT	3134.63	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.39;DP=513;ExcessHet=0;FS=5.575;MLEAC=2;MLEAF=0.167;MQ=59.99;MQRankSum=0;QD=34.83;ReadPosRankSum=0.047;SOR=2.262	GT:AD:DP:GQ:PL	0/1:5,6:21:28:190,81,233	4	0	2	1
chr17	19909228	19909228	T	C	exonic	AKAP10	.	nonsynonymous SNV	AKAP10:NM_001330152:exon13:c.A1762G:p.I588V,AKAP10:NM_007202:exon14:c.A1936G:p.I646V	.	429	489	464	140	0	744	0.432056	.	.	.	20443	Reclassified_-_variant_of_unknown_significance|AKAP10-related_disorder	.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.120	.	0.4504	0.39397	0.3737	0.5879	0.4229	0.1824	0.3464	0.3790	0.3377	0.2956	0.373016	57669	154602	rs203462	0.3854	0.3855	0.3891	0.3817	0.5952	0.3846	0.3842	0.5883	0.5855	0.5952	0.4193	0.3679	0.2016	0.3461	0.4069	0.3927	0.3889	0.3035	0.4277	0.4279	0.4312	0.4241	0.5838	0.4250	0.4238	0.5777	0.5751	0.5838	0.3626	0.4303	0.3698	0.1901	0.3480	0.4150	0.3766	0.4152	0.2874	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.000000	0.999797	0.20333	P	-2.015	0.00187	N	2.01	0.21291	T	0.31	0.04022	N	0.118	0.10769	-0.9687	0.37468	T	0.000	0.00011	T	9	5.4074975e-05	0.00009	T	.	.	.	0.120	0.33359	.	.	.	.	0.1933210593021231	0.19250	0.178928352935	0.20133	0.692670106888	0.66089	T	0.062406	0.31909	T	-0.636176	0.00088	T	-0.542779	0.18025	T	0.00597241672880667	0.00066	T	0.305869	0.05863	T	0.049374104	0.08756	0.061363425	0.11835	0.049374104	0.08756	0.061363425	0.11835	-1.044	0.01049	T	.	.	0.048	0.00179	B	.;.	.;.	1.819896	0.23127	15.90	0.48678567446506221	0.04082	0.07005	0.13031	N	AEFGBI	0.025493	0.01754	N	-0.652311836236643	0.17393	0.8946286	-0.344221069595134	0.26688	1.475766	0.998595863275224	0.37268	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.88	5.88	0.94564	3.391000	0.52271	5.998000	0.52441	-0.192000	0.09343	0.976000	0.34826	1.000000	0.68203	0.953000	0.50222	0.0:0.9244:0.0:0.0756	12.685	0.56308	587	0.69154	A-kinase anchor protein 10, PKA-binding (AKB) domain;A-kinase anchor protein 10, PKA-binding (AKB) domain	RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|AKAP10|RP11-209D14.2|RP11-78O7.2|AKAP10|RP11-209D14.2|CCDC144CP|RP11-78O7.2|RP11-78O7.2|RP11-78O7.2|CCDC144CP|RP11-78O7.2|USP32P3|RP11-78O7.2|RP11-78O7.2|CCDC144CP|USP32P3|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|RP11-78O7.2|RP11-78O7.2|AKAP10|LGALS9B|KRT16P3|RP11-78O7.2|AKAP10|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|AKAP10|RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|CCDC144CP|AKAP10|LGALS9B|RP11-78O7.2|AKAP10|RP11-78O7.2|LGALS9B|RP11-209D14.2|CCDC144CP|USP32P3|SRP68P3|NOS2P3|AC008088.4|RP11-78O7.2|AKAP10|CCDC144CP|USP32P3|RP11-209D14.4|AKAP10|LGALS9B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	AKAP10|CCDC144CP|CCDC144CP|CCDC144CP|CCDC144CP|KRT16P3|CCDC144CP|KRT17P7	Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Esophagus_Mucosa|Testis|Testis	rs203462	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.427923	0.474747	0.483696	0.461988	0.350000	0.431034	0.300613	0.378788	0.2857	4322.57	38	chr17	19909228	.	T	C	4322.57	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.101;DP=336;ExcessHet=0.0921;FS=2.663;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=19.13;ReadPosRankSum=1.38;SOR=0.526	GT:AD:DP:GQ:PL	1/1:0,98:98:99:2781,294,0	4	1	2	0
chr17	21300880	21300880	C	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon5:c.C199T:p.R67W,MAP2K3:NM_145109:exon5:c.C286T:p.R96W,MAP2K3:NM_001316332:exon6:c.C199T:p.R67W	.	430	38	1047	7	0	1061	0.933157	.	.	.	1770503	not_specified|MAP2K3-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.375	.	.	.	0.4998	0.4999	0.4997	0.4986	0.5	0.4999	0.5	0.4999	0.0238677	3690	154602	rs56216806	0.4983	0.4983	0.4982	0.4985	0.4998	0.4974	0.4970	0.4969	0.4964	0.4981	0.4998	0.4992	0.4996	0.4998	0.4996	0.4980	0.4987	0.4994	0.5000	0.5000	0.5000	0.5000	0.5000	0.4970	0.4958	0.4955	0.4937	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.0	0.91255	D	0.043	0.56640	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999999	0.58761	D	2.88	0.83451	M	-0.23	0.66652	T	-4.91	0.82141	D	0.699	0.70351	-0.9444	0.41911	T	0.000	0.00011	T	10	0.0043037534	0.00087	T	.	.	.	0.375	0.69358	.	.	.	.	0.7188625825101859	0.71829	0.606269731864	0.55478	0.820443630219	0.85095	D	0.403427	0.76018	T	0.346235	0.86252	D	0.259566	0.86071	D	0.0378888073466841	0.03313	T	0.914509	0.70203	D	0.8805352	0.89711	0.8318533	0.90306	0.8805352	0.89712	0.8318533	0.90306	-15.158	0.96694	D	.	.	0.905	0.83091	P	.;.;.;.;.	.;.;.;.;.	5.775915	0.93501	33	0.98723007320009115	0.45230	0.81548	0.40929	D	AEFGBCI	0.787610	0.71734	D	0.664275873630775	0.77296	6.647485	0.610880277044446	0.75730	6.36224	0.999999998268304	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.716000	0.61607	5.995000	0.52393	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1566:0.8434:0.0:0.0	13.451	0.60626	824	0.40336	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.497986	0.494949	0.501359	0.497076	0.500000	0.500000	0.493902	0.500000	0.5	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|1:109,97:206:99:0|1:21300875_G_T:3698,0,4197:21300875	0	0	7	0
chr17	50568986	50568989	GTGT	-	intronic	CACNA1G	.	.	.	Spinocerebellar ataxia 42, Autosomal dominant	0	129	28	0	69	97	0.0979021	.	.	.	778363	Spinocerebellar_ataxia_42,_early-onset,_severe,_with_neurodevelopmental_deficits|not_specified|not_provided	MONDO:MONDO:0060758,MedGen:C4748120,OMIM:618087|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1042419466	0.0281	0.0294	0.0290	0.0272	0.0329	0.0278	0.0277	0.0326	0.0324	0.0091	0.0109	0.0072	0.0002	0.0439	0.0183	0.0329	0.0255	0.0046	0.0212	0.0204	0.0217	0.0208	0.0323	0.0206	0.0203	0.0311	0.0306	0.0062	0.0102	0.0137	0.0049	0.0002	0.0419	0.0221	0.0323	0.0161	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1512.39	33	chr17	50568985	.	AGTGT	A	1512.39	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.112;DP=448;ExcessHet=0.3476;FS=2;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=1.01;SOR=0.867	GT:AD:DP:GQ:PL	0/1:36,36:89:99:1412,0,1338	6	0	1	0
chr17	70176431	70176431	G	A	UTR3	KCNJ2	NM_000891:c.*108G>A	.	.	Andersen syndrome, Autosomal dominant;Atrial fibrillation, familial, 9, Autosomal dominant;Short QT syndrome 3	11	1504	7	0	0	7	0.00232172	.	.	.	878298	Andersen_Tawil_syndrome|Short_QT_syndrome_type_3|Atrial_fibrillation,_familial,_9	MONDO:MONDO:0008222,MedGen:C1563715,OMIM:170390,Orphanet:37553|MONDO:MONDO:0012314,MedGen:C1865018,OMIM:609622,Orphanet:51083|MONDO:MONDO:0013513,MedGen:C3151431,OMIM:613980	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs188588568	0.0002	0.0002	0.0002	0.0002	0.0071	0.0002	0.0002	0.0051	0.0045	0.0002	0.0004	0	0	0	0.0071	0.0002	0.0003	9.867e-05	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	0.0001	0.0002	0.0002	9.624e-05	0	0.0005	0	0	0	0.0102	0.0002	0.0009	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	.	.	.	.	.	.	.	.	0.07143	509.83	24	chr17	70176431	.	G	A	509.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.33;DP=186;ExcessHet=0;FS=3.699;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.029;SOR=1.514	GT:AD:DP:GQ:PL	0/1:21,17:38:99:520,0,552	6	0	1	0
chr17	80184196	80184196	G	A	exonic	CARD14	.	synonymous SNV	CARD14:NM_001257970:exon4:c.G633A:p.E211E,CARD14:NM_024110:exon4:c.G633A:p.E211E,CARD14:NM_001366385:exon7:c.G633A:p.E211E	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	0	505	725	292	0	1309	0.564467	.	.	.	390302	not_provided|Pityriasis_rubra_pilaris|Psoriasis_2|not_specified	MedGen:C3661900|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3867	0.347045	0.4547	0.4591	0.4132	0.3050	0.5434	0.4586	0.4259	0.4751	0.27294	42197	154602	rs4889990	0.3755	0.3729	0.3740	0.3771	0.4346	0.3747	0.3743	0.4308	0.4292	0.4143	0.2620	0.3677	0.2342	0.3867	0.4186	0.3783	0.3740	0.4346	0.3784	0.3786	0.3796	0.3771	0.4262	0.3758	0.3747	0.4112	0.4091	0.4164	0.3315	0.3063	0.3686	0.2088	0.3755	0.4150	0.3826	0.3685	0.4262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.432990	0.461957	0.414127	0.444118	0.550000	0.500000	0.412500	0.418605	0.5	12118.1	101	chr17	80184196	.	G	A	12118.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.602;DP=792;ExcessHet=0.3696;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=-0.999;SOR=0.64	GT:AD:DP:GQ:PL	0/1:65,71:136:99:1789,0,1635	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	1/1:0,87:87:99:2795,261,0	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	0/1:28,42:70:99:1169,0,692	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	0/1:62,72:134:99:1768,0,1486	1	0	6	0
chr18	31388386	31388386	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon4:c.C236T:p.S79L,DSG4:NM_177986:exon4:c.C236T:p.S79L	Hypotrichosis 6, Autosomal recessive	1	1486	35	0	0	35	0.0116395	.	.	.	715937	Hypotrichosis_6|DSG4-related_disorder|not_provided	MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.0048	0.00439297	0.0042	0.0046	0.0027	0	0	0.0051	0.0044	0.0053	0.0040297	623	154602	rs36040686	0.0032	0.0032	0.0030	0.0033	0.0191	0.0031	0.0031	0.0162	0.0151	0.0050	0.0033	0.0436	0	0.0003	0.0191	0.0020	0.0065	0.0048	0.0038	0.0038	0.0039	0.0037	0.0060	0.0035	0.0034	0.0043	0.0037	0.0031	0	0.0042	0.0542	0	0.0004	0.0340	0.0021	0.0057	0.0060	0.264	0.16358	T	0.155	0.31936	T	0.054	0.22658	B	0.046	0.24676	B	0.727362	0.06349	N	1.212930	0.999999	0.08975	N	0.915	0.23335	L	0.74	0.50459	T	-1.75	0.41428	N	0.107	0.10340	-0.9614	0.38916	T	0.073	0.29675	T	10	0.0033466518	0.00058	T	.	.	.	0.010	0.01040	.	.	0.276898752692	0.27294	0.13389012196261588	0.13313	0.029762402894	0.03065	0.298493921757	0.10177	T	0.108723	0.42200	T	-0.647278	0.00075	T	-0.698542	0.05906	T	0.00208938657306135	0.00022	T	0.162684	0.01721	T	0.038331885	0.05086	0.049947403	0.07739	0.03988346	0.05589	0.039548468	0.04072	-2.372	0.04964	T	.	.	0.072	0.07224	B	.;.	.;.	-0.453279	0.02022	0.181	0.92623994699646028	0.22094	0.01138	0.04130	N	AEFI	0.026801	0.02075	N	-1.0116172173723	0.08362	0.3917972	-1.0389198890453	0.08939	0.4420613	0.00372337501722856	0.10253	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.73	-1.72	0.07671	-1.225000	0.03066	-3.198000	0.02978	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1368:0.358:0.0:0.5052	6.536	0.21550	643	0.63827	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025176	0.030303	0.036685	0.043860	0.000000	0.008621	0.009146	0.007576	0.1429	1709.24	34	chr18	31388386	.	C	T	1709.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.5;DP=313;ExcessHet=0.3476;FS=1.297;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=1.92;SOR=0.589	GT:AD:DP:GQ:PL	0/1:45,30:75:99:733,0,1090	5	0	2	0
chr18	31399464	31399464	G	A	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon9:c.G1198A:p.G400R,DSG4:NM_177986:exon9:c.G1198A:p.G400R	Hypotrichosis 6, Autosomal recessive	0	1484	38	0	0	38	0.0126414	.	.	.	576181	DSG4-related_disorder|not_provided|Hypotrichosis_6	.|MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.179	.	0.0050	0.00439297	0.0043	0.0046	0.0027	0	0	0.0052	0.0044	0.0058	0.0040685	629	154602	rs35378785	0.0033	0.0033	0.0031	0.0034	0.0203	0.0032	0.0032	0.0173	0.0162	0.0051	0.0033	0.0435	0	0.0003	0.0203	0.0021	0.0067	0.0055	0.0039	0.0039	0.0039	0.0039	0.0068	0.0036	0.0035	0.0050	0.0044	0.0031	0	0.0042	0.0541	0	0.0004	0.0408	0.0022	0.0057	0.0068	0.74	0.03696	T	0.19	0.28860	T	0.531	0.90584	P	0.247	0.80445	B	0.077327	0.21110	N	0.246143	0.939708	0.37270	D	0.495	0.13372	N	0.35	0.59037	T	-0.51	0.15986	N	0.689	0.69474	-0.8261	0.53550	T	0.188	0.53827	T	10	0.0041315258	0.00081	T	.	.	.	0.179	0.44899	0.414	0.45216	0.800236202846	0.79837	0.3010113199831233	0.30014	0.252222878455	0.27793	0.465308904648	0.34037	T	0.102842	0.41094	T	-0.180223	0.23702	T	-0.0276499	0.68524	D	0.0494035485741406	0.05395	T	0.692831	0.31596	T	0.10689115	0.25275	0.13068023	0.31396	0.097276576	0.22927	0.090244345	0.21151	-7.606	0.58353	D	.	.	0.346	0.56311	A	.;.	.;.	2.539861	0.32855	19.17	0.9951036776297365	0.68618	0.73441	0.35924	D	AEFDGBCI	0.203974	0.33044	N	0.267983728041288	0.54534	3.618692	0.339373258754207	0.57870	3.954535	0.999999994021206	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	3.309000	0.51613	2.699000	0.34147	0.676000	0.76740	0.291000	0.25242	1.000000	0.68203	0.979000	0.57723	0.0758:0.0:0.9242:0.0	12.717	0.56492	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027694	0.035354	0.038043	0.046784	0.000000	0.008621	0.009146	0.011364	0.2143	4275.72	33	chr18	31399464	.	G	A	4275.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.56;DP=478;ExcessHet=1.1394;FS=1.791;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.082;SOR=0.802	GT:AD:DP:GQ:PL	0/1:87,87:174:99:2231,0,2082	4	0	3	0
chr18	57580222	57580222	G	A	intronic	FECH	.	.	.	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	2	910	527	83	0	693	0.275766	.	.	.	15589	not_provided|Jaundice|Erythema|not_specified|Protoporphyria,_erythropoietic,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|MedGen:CN169374|MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2588	0.334665	0.2467	0.4468	0.4373	0.3093	0.2329	0.1736	0.2174	0.2577	0.238063	36805	154602	rs2269219	0.1942	0.1944	0.1942	0.1942	0.4542	0.1936	0.1934	0.4482	0.4457	0.4542	0.3983	0.2246	0.3662	0.2313	0.2387	0.1638	0.2062	0.2567	0.2741	0.2744	0.2705	0.2778	0.4470	0.2719	0.2710	0.4416	0.4394	0.4470	0.0822	0.3025	0.2145	0.3240	0.2456	0.3027	0.1704	0.2623	0.2512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1742.73	19	chr18	57580222	.	G	A	1742.73	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.904;DP=166;ExcessHet=3.1439;FS=0.784;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.725;SOR=0.578	GT:AD:DP:GQ:PL	0/1:19,13:32:99:325,0,504	2	0	4	1
chr19	8112037	8112037	G	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon31:c.C3901A:p.P1301T,FBN3:NM_032447:exon31:c.C3901A:p.P1301T	.	417	1104	1	0	0	1	0.000452694	.	.	.	3250124	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.586	0.0918645538181	7.7e-05	.	0.0001	0	0	0	0	0.0003	0.0011	0	0.0001164	18	154602	rs150945472	8.007e-05	8.209e-05	6.945e-05	9.079e-05	0.0009	6.803e-05	6.357e-05	0.0003	0.0002	0	0	0.0032	0	0	0.0009	1.439e-05	0.0002	0	9.262e-05	9.203e-05	0.0001	6.78e-05	6.609e-05	5.564e-05	4.393e-05	.	.	0	0	6.609e-05	0.0035	0	0	0	1.474e-05	0	0	0.017	0.51248	D	0.111	0.37173	T	0.999	0.77913	D	0.947	0.68407	D	0.000000	0.84330	U	0.000000	1	0.81001	D	2.68	0.78455	M	-2.27	0.87433	D	-4.38	0.77143	D	0.476	0.55019	0.492	0.90437	D	0.763	0.91939	D	10	0.14969203	0.28326	T	0.091865	0.75787	D	0.586	0.83416	.	.	0.831045819502	0.82943	0.6142289406386615	0.61354	0.78146300038	0.65317	0.420418709517	0.27894	T	0.287586	0.66038	T	0.0757431	0.61540	D	-0.0653309	0.65958	T	0.646454036235809	0.38311	D	0.931907	0.74605	D	0.37448874	0.58914	0.35081902	0.60685	0.37448874	0.58915	0.35081902	0.60685	-11.687	0.83293	D	.	.	0.128	0.27373	B	.;.;.	.;.;.	3.558504	0.50059	22.9	0.99633552950773663	0.76203	0.98975	0.89414	D	AEFDBI	0.643813	0.62029	D	0.319582965624898	0.57154	3.881787	0.17997611955032	0.48750	3.086858	0.999999967074832	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	4.34	4.34	0.51267	4.454000	0.59807	.	.	0.618000	0.50648	1.000000	0.71638	0.942000	0.28804	0.349000	0.25636	0.0:0.0:1.0:0.0	16.831	0.85809	929	0.16858	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1408.44	37	chr19	8112037	.	G	T	1408.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.8;DP=325;ExcessHet=0;FS=1.462;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.734;SOR=0.545	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1419,0,2302	6	0	1	0
chr19	10798534	10798534	A	G	exonic	DNM2	.	nonsynonymous SNV	DNM2:NM_001005360:exon11:c.A1384G:p.T462A,DNM2:NM_001005361:exon11:c.A1384G:p.T462A,DNM2:NM_001005362:exon11:c.A1384G:p.T462A,DNM2:NM_001190716:exon11:c.A1384G:p.T462A,DNM2:NM_004945:exon11:c.A1384G:p.T462A	Charcot-Marie-Tooth disease, axonal, type 2M, Autosomal dominant;Charcot-Marie-Tooth disease, dominant intermediate B, Autosomal dominant;Lethal congenital contracture syndrome 5, Autosomal recessive;Myopathy, centronuclear, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	332403	not_specified|Inborn_genetic_diseases|not_provided|Autosomal_dominant_centronuclear_myopathy|Charcot-Marie-Tooth_disease_dominant_intermediate_B	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008048,MeSH:D020914,MedGen:C4551952,OMIM:160150,Orphanet:169189|MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482,Orphanet:100044,Orphanet:228179	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.332	0.0278324785597	.	.	0.0002	0	0.0002	0	0	0.0003	0.0011	0.0003	0.0001811	28	154602	rs201575500	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0002	2.987e-05	0.0002	0	0	1.872e-05	0.0007	0.0001	0.0002	0.0004	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	8.731e-05	0.0007	0.0005	4.828e-05	0	0.0001	0	0	0	0	0.0001	0.0014	0.0015	0.091	0.31834	T	0.511	0.45744	T	0.088	0.29746	B	0.053	0.30479	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.905	0.50856	L	-0.67	0.72458	T	-3.21	0.65171	D	0.684	0.71854	-0.4678	0.69802	T	0.326	0.69436	T	10	0.220121	0.38700	T	0.027832	0.50591	D	0.332	0.65424	.	.	0.720179766801	0.71771	0.7513524050960209	0.75082	1.05575638004	0.76310	0.7073315382	0.68206	T	0.864422	0.97018	D	-0.187171	0.22674	T	-0.163904	0.57999	T	0.0835379511117935	0.10434	T	0.80242	0.45852	T	0.32516393	0.55072	0.3169438	0.57672	0.32516393	0.55072	0.3169438	0.57671	-5.435	0.41312	T	0.252206737828765	0.34123	0.105	0.26388	B	.;.;.;.;.;.	.;.;.;.;.;.	4.256948	0.64661	24.7	0.99186156143668269	0.54848	0.98715	0.85931	D	AEFDBI	0.704794	0.66040	D	0.153020506166584	0.48955	3.101461	0.230976828269892	0.51573	3.338789	0.999998370353162	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.57	4.57	0.55860	4.957000	0.63358	7.773000	0.68509	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	12.934	0.57701	415	0.81806	.;.;.;Dynamin central domain;.;Dynamin central 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	.	.	.	.	.	.	.	.	0.07143	612.49	33	chr19	10798534	.	A	G	612.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.658;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=0.545;SOR=0.689	GT:AD:DP:GQ:PL	0/1:54,32:86:99:623,0,1249	6	0	1	0
chr19	17212276	17212276	G	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_004145:exon40:c.G6440T:p.C2147F	.	427	1093	2	0	0	2	0.000914077	.	.	.	756808	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	0.110605621021	0.0007	.	0.0009	0	0.0016	0	0	0.0014	0	0.0002	0.0002846	44	154602	rs201009683	0.0003	0.0004	0.0004	0.0003	0.0018	0.0003	0.0003	0.0010	0.0007	0.0002	0.0006	0.0016	0	0	0.0018	0.0003	0.0005	0.0001	0.0005	0.0005	0.0004	0.0006	0.0021	0.0004	0.0004	0.0015	0.0013	4.811e-05	0	0.0021	0.0020	0	0	0.0034	0.0004	0.0009	0.0002	.	.	.	0.102	0.38450	T	.	.	.	.	.	.	0.202366	0.16567	N	0.511841	0.999884	0.50402	D	.	.	.	-2.05	0.85799	D	.	.	.	0.398	0.43899	-0.9210	0.45417	T	0.110	0.39699	T	9	0.031621575	0.01299	T	0.110606	0.78806	D	.	.	.	.	0.267718591433	0.26370	.	.	.	.	0.518901228905	0.41472	T	0.024605	0.18561	T	-0.218814	0.18155	T	-0.209356	0.53757	T	0.0492037875694996	0.05359	T	0.754824	0.37774	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11797	B	.	.	3.432573	0.47710	22.5	0.89194487684164336	0.18590	0.87509	0.47071	D	AEFBI	0.371469	0.45747	N	0.181932966608269	0.50332	3.224187	0.242113777422032	0.52201	3.39662	0.00194315580774608	0.09028	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.84	3.76	0.42368	2.017000	0.40600	5.263000	0.48128	0.614000	0.49286	0.997000	0.40164	1.000000	0.68203	0.688000	0.33778	0.0:0.2162:0.7838:0.0	12.357	0.54507	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003550	0.005155	0.002717	0.008929	0.050000	0.000000	0.006173	0.000000	0.07143	593.83	32	chr19	17212276	.	G	T	593.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.455;DP=219;ExcessHet=0;FS=6.825;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.26;SOR=0.458	GT:AD:DP:GQ:PL	0/1:16,26:42:99:604,0,330	6	0	1	0
chr19	38930489	38930489	G	A	exonic	SARS2	.	nonsynonymous SNV	SARS2:NM_001145901:exon1:c.C248T:p.S83L,SARS2:NM_017827:exon1:c.C248T:p.S83L	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	0	1451	68	3	0	74	0.0248656	.	.	.	142664	Hyperuricemia,_pulmonary_hypertension,_renal_failure,_alkalosis_syndrome|not_specified|not_provided	MONDO:MONDO:0013458,MedGen:C3151209,OMIM:613845,Orphanet:363694|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	.	0.0064	0.0091853	0.0100	0.0020	0.0067	0.0001	0.0046	0.0090	0.0153	0.0273	0.0093725	1449	154602	rs34050897	0.0096	0.0096	0.0091	0.0102	0.0259	0.0095	0.0095	0.0250	0.0246	0.0020	0.0069	0.0027	0.0001	0.0044	0.0141	0.0094	0.0097	0.0259	0.0066	0.0066	0.0066	0.0066	0.0259	0.0063	0.0061	0.0222	0.0208	0.0018	0	0.0059	0.0026	0.0004	0.0030	0.0136	0.0095	0.0099	0.0259	0.327	0.13262	T	0.312	0.19660	T	0.077	0.24313	B	0.004	0.10090	B	0.014799	0.28429	N	0.367956	.	.	.	0.345	0.11182	N	0.49	0.55775	T	-1.17	0.31375	N	0.179	0.29544	-0.7507	0.57899	T	0.096	0.36263	T	9	0.003596574	0.00065	T	.	.	.	0.096	0.27654	.	.	0.701561391093	0.69897	0.2950527999363668	0.29418	0.273909488683	0.29889	0.44043302536	0.30635	T	0.072744	0.34529	T	-0.482439	0.00716	T	-0.44617	0.28119	T	0.0226525112198306	0.00983	T	.	.	.	0.10467068	0.24745	0.14380763	0.34163	0.10447656	0.24699	0.14380763	0.34162	-4.243	0.31805	T	.	.	0.085	0.12750	B	.;.;.	.;.;.	2.975981	0.39681	21.0	0.9621310437656867	0.29063	0.26748	0.23082	N	ALL	0.164522	0.29092	N	-0.237899072677068	0.31589	1.77281	-0.233137074387494	0.30356	1.708518	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.51	5.51	0.81769	2.031000	0.40737	11.638000	0.93763	0.676000	0.76740	0.048000	0.21332	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	14.793	0.69479	680	0.59965	.;.;.	.	.	.	.	.	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	0.010617	0.015152	0.004087	0.000000	0.000000	0.000000	0.030488	0.018939	0.1429	485.24	33	chr19	38930489	.	G	A	485.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.41;DP=238;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=0.524;SOR=0.614	GT:AD:DP:GQ:PL	0/1:47,22:69:99:465,0,1126	5	0	2	0
chr19	49172040	49172040	T	G	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321281:exon7:c.T737G:p.L246R,TRPM4:NM_001321283:exon7:c.T560G:p.L187R,TRPM4:NM_001195227:exon9:c.T1082G:p.L361R,TRPM4:NM_017636:exon9:c.T1082G:p.L361R	Progressive familial heart block, type IB, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	178747	Progressive_familial_heart_block_type_IB|Long_QT_syndrome|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.871	0.348758731805	0.0003	.	0.0003	0	0.0007	0	0.0005	0.0004	0	0.0001	0.0002846	44	154602	rs148763371	0.0003	0.0003	0.0002	0.0003	0.0019	0.0002	0.0002	0.0011	0.0008	8.961e-05	0.0004	0.0011	0	0.0006	0.0019	0.0002	0.0004	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0	0	0.0002	0.0012	0	9.411e-05	0	0.0003	0.0005	0	0.0	0.91255	D	0.002	0.79402	D	0.998	0.77913	D	0.929	0.73562	D	0.000718	0.42254	D	0.106709	0.916975	0.81001	D	2.795	0.81503	M	-2.42	0.88611	D	-5.3	0.84387	D	0.944	0.96871	0.739	0.93652	D	0.794	0.93025	D	10	0.84981203	0.84156	D	0.348759	0.92212	D	0.871	0.96133	.	.	0.914157380237	0.91329	0.9013274671297112	0.90104	1.14750223707	0.79107	0.767600536346	0.77065	T	0.828808	0.95890	D	0.200863	0.73973	D	0.37871	0.91385	D	0.217138170362845	0.21320	T	0.814719	0.46890	T	0.9254242	0.93781	0.83004063	0.90187	0.9254242	0.93781	0.83004063	0.90188	-11.357	0.83451	D	.	.	0.884	0.82298	P	.;.	.;.	4.444754	0.69046	25.3	0.99696066157032781	0.80316	0.97038	0.72331	D	AEFBI	0.652696	0.62600	D	0.668880069156276	0.77595	6.70508	0.616419395579262	0.76130	6.43496	0.40754168567665	0.20184	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.77	4.77	0.60425	3.206000	0.50800	7.720000	0.67265	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.109	0.53129	733	0.53988	.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	556.27	33	chr19	49172040	.	T	G	556.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.574;DP=225;ExcessHet=0;FS=0.979;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.357;SOR=0.892	GT:AD:DP:GQ:PL	0/1:36,26:62:99:566,0,895	5	0	1	1
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	0/1:52,48:100:99:1292,0,1364	4	1	2	0
chr19	55161145	55161145	C	T	exonic	DNAAF3	.	nonsynonymous SNV	DNAAF3:NM_001256714:exon8:c.G1036A:p.A346T,DNAAF3:NM_001256715:exon8:c.G832A:p.A278T,DNAAF3:NM_001256716:exon8:c.G670A:p.A224T,DNAAF3:NM_178837:exon8:c.G973A:p.A325T	Ciliary dyskinesia, primary, 2, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	334411	not_provided|DNAAF3-related_disorder|Primary_ciliary_dyskinesia	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.130	0.0263316271101	0.0011	0.000798722	0.0020	0.0007	0.0025	0	0	0.0031	0	0.0014	0.0010479	162	154602	rs200775946	0.0025	0.0025	0.0026	0.0024	0.0028	0.0024	0.0024	0.0027	0.0027	0.0003	0.0009	3.969e-05	0.0001	0.0040	0.0009	0.0028	0.0023	0.0016	0.0019	0.0019	0.0018	0.0020	0.0030	0.0017	0.0017	0.0027	0.0025	0.0004	0	0.0008	0	0	0.0043	0	0.0030	0.0024	0.0014	0.231	0.18246	T	0.339	0.21411	T	0.99	0.63424	D	0.719	0.54822	P	0.001235	0.39743	N	0.214637	0.942107	0.26760	N	1.865	0.49290	L	2.38	0.15843	T	-1.39	0.34397	N	0.369	0.45709	-1.0863	0.06173	T	0.070	0.28740	T	10	0.013263226	0.00282	T	0.026332	0.49245	D	0.130	0.35528	.	.	0.32082282376	0.31691	0.6881921752266086	0.68759	0.626266692496	0.56765	0.714590251446	0.69259	T	0.001088	0.00603	T	-0.449481	0.01137	T	-0.423352	0.30692	T	0.0228511231372686	0.01006	T	0.713829	0.32612	T	0.11944667	0.28124	0.29025954	0.55048	0.12916973	0.30176	0.40273905	0.64748	-5.169	0.56565	T	0.12517156110956149	0.12402	0.145	0.32251	B	.;.;.;.	.;.;.;.	3.988920	0.58697	24.0	0.99674070690924188	0.78782	0.73468	0.35937	D	AEFDGBCI	0.758477	0.69711	D	0.398226071342304	0.61326	4.332171	0.408302086286137	0.62081	4.417728	0.999999968482387	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.24	4.24	0.49486	4.546000	0.60415	5.728000	0.49506	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	13.989	0.63868	988	0.01987	Dynein assembly factor 3, C-terminal domain;Dynein assembly factor 3, C-terminal domain;Dynein assembly factor 3, C-terminal domain;Dynein assembly factor 3, C-terminal domain	.	.	.	.	.	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	0.004188	0.000000	0.006964	0.003049	0.000000	0.008929	0.000000	0.003876	0.07143	1112.46	48	chr19	55161145	.	C	T	1112.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.448;DP=391;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.501;SOR=0.696	GT:AD:DP:GQ:PL	0/1:60,46:106:99:1123,0,1460	6	0	1	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	0/1:96,84:180:99:1741,0,2218	2	1	4	0
chr20	10408774	10408774	T	C	exonic	MKKS	.	nonsynonymous SNV	MKKS:NM_018848:exon4:c.A1015G:p.I339V,MKKS:NM_170784:exon4:c.A1015G:p.I339V	Bardet-Biedl syndrome 6, Autosomal recessive;McKusick-Kaufman syndrome, Autosomal recessive	3	1496	21	2	0	25	0.00828638	.	.	YES	106463	McKusick-Kaufman_syndrome|not_provided|Bardet-Biedl_syndrome_6|Bardet-Biedl_syndrome|not_specified	MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orphanet:2473|MedGen:C3661900|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231,Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.489	0.0291197997771	0.0030	0.00219649	0.0044	0.0002	0.0023	0	0.0063	0.0054	0.0044	0.0060	0.0042173	652	154602	rs137853909	0.0042	0.0042	0.0041	0.0043	0.0090	0.0041	0.0041	0.0071	0.0064	0.0005	0.0024	0.0023	2.521e-05	0.0081	0.0090	0.0043	0.0040	0.0056	0.0036	0.0036	0.0036	0.0036	0.0050	0.0034	0.0033	0.0046	0.0044	0.0004	0	0.0048	0.0029	0	0.0074	0.0102	0.0050	0.0057	0.0039	0.421	0.09806	T	0.821	0.03817	T	0.008	0.14655	B	0.042	0.24114	B	0.977114	0.07816	N	1.008790	0.999634	0.20820	N	0.575	0.15311	N	-1.3	0.79571	T	-0.52	0.16187	N	0.663	0.68950	-0.8682	0.50664	T	0.258	0.62823	T	10	0.009791404	0.00220	T	0.02912	0.51684	D	0.489	0.77656	.	.	0.455816718377	0.45207	0.266399546238906	0.26552	0.09311429178	0.10522	0.252166539431	0.03999	T	0.322819	0.69379	T	-0.28378	0.10270	T	-0.17528	0.56960	T	0.012114446485306	0.00193	T	0.593441	0.21910	T	0.02074044	0.00644	0.028641589	0.01119	0.020595802	0.00623	0.02819071	0.01033	-3.188	0.12334	T	0.09513167477338763	0.06441	0.064	0.01645	B	.;.	.;.	-0.691902	0.01340	0.074	0.63355510148389349	0.07202	0.08530	0.14447	N	AEFBI	0.132921	0.25241	N	-1.10111141240403	0.06624	0.3054509	-1.12856201002048	0.07158	0.3471643	0.999987309373211	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.87	-4.87	0.02893	-1.552000	0.02280	-2.097000	0.04217	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.088:0.5145:0.0829:0.3146	7.534	0.26871	861	0.33516	.;.	.	.	.	.	.	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	0.002525	0.000000	0.002717	0.000000	0.050000	0.000000	0.003067	0.011364	0.07143	1374.49	42	chr20	10408774	.	T	C	1374.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.416;DP=371;ExcessHet=0;FS=0.729;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.749;SOR=0.78	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1385,0,1613	6	0	1	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	212	501	433	376	0	1185	0.541838	.	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	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	1/1:0,2:2:6:82,6,0	2	2	1	2
chr21	33432890	33432890	C	-	intronic	IFNGR2	.	.	.	Immunodeficiency 28, mycobacteriosis, Autosomal recessive	196	1271	52	1	2	56	0.0208012	.	.	.	45040	not_provided|Interferon_gamma_receptor_deficiency|Immunodeficiency_28	MedGen:C3661900|MedGen:C1112429|MONDO:MONDO:0013953,MedGen:C4013947,OMIM:614889,Orphanet:319547,Orphanet:319574	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3572	.	0.0604	0.0666	0.1064	0.0634	0.0565	0.0608	0.0652	0.0408	0.0002305	6	26028	rs193922682	0.0499	0.0914	0.0513	0.0485	0.0679	0.0495	0.0494	0.0656	0.0646	0.0576	0.0679	0.0348	0.0466	0.0438	0.0377	0.0518	0.0505	0.0250	0.0006	0.0013	0.0005	0.0008	0.0006	0.0005	0.0005	0.0005	0.0004	0.0002	0	0.0005	0	0.0006	0.0041	0	0.0006	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	156.79	30	chr21	33432889	.	TC	T	156.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.528;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=-1.032;SOR=0.593	GT:AD:DP:GQ:PL	0/1:26,11:37:99:167,0,690	6	0	1	0
chr21	44533884	44533884	C	T	exonic	TSPEAR	.	nonsynonymous SNV	TSPEAR:NM_144991:exon3:c.G343A:p.D115N,TSPEAR:NM_001272037:exon4:c.G139A:p.D47N	Deafness, autosomal recessive 98, Autosomal recessive	7	1497	17	1	0	19	0.00630601	.	.	.	497833	not_provided|TSPEAR-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.045	0.0150867576654	0.0022	0.00139776	0.0012	0.0042	0.0013	0	0.0002	0.0009	0.0012	0.0014	0.0010673	165	154602	rs144586270	0.0009	0.0009	0.0009	0.0009	0.0236	0.0008	0.0008	0.0204	0.0191	0.0054	0.0013	0.0006	2.519e-05	3.843e-05	0.0236	0.0006	0.0021	0.0015	0.0019	0.0019	0.0018	0.0019	0.0044	0.0017	0.0016	0.0039	0.0037	0.0044	0	0.0016	0.0014	0	9.47e-05	0.0136	0.0008	0.0052	0.0006	0.456	0.08839	T	0.533	0.10000	T	0.01	0.15535	B	0.002	0.06944	B	0.031530	0.25155	N	0.462162	1	0.08975	N	1.64	0.41913	L	4.52	0.01997	T	-0.45	0.14782	N	0.206	0.22870	-0.9011	0.47878	T	0.004	0.01192	T	10	0.003951758	0.00076	T	0.015087	0.35618	T	0.045	0.12272	.	.	0.0138822411134	0.00435	0.4449944534404492	0.44417	0.0634877606661	0.07066	0.592923879623	0.51908	T	0.038484	0.24856	T	-0.694762	0.00039	T	-0.770213	0.02761	T	0.0016713093738103	0.00017	T	0.864713	0.56210	D	0.0322466	0.03213	0.021476898	0.00198	0.0322466	0.03212	0.021476898	0.00198	-3.88	0.22002	T	0.11579110290324453	0.10399	0.106	0.19518	B	.;.	.;.	1.356134	0.17643	13.29	0.94917309531815186	0.25787	0.13227	0.17736	N	AEFDBI	0.152058	0.27667	N	-1.07096360472456	0.07182	0.3328898	-1.04269786127353	0.08860	0.4377163	0.926103053978709	0.26839	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.95	3.12	0.34986	0.775000	0.26351	1.171000	0.24625	-0.184000	0.09925	0.010000	0.18352	0.080000	0.22369	0.090000	0.17789	0.0:0.5886:0.1629:0.2484	5.447	0.15839	970	0.06235	Laminin G domain;Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.022200	0.005051	0.036785	0.032164	0.050000	0.035088	0.006098	0.007576	0.07143	979.53	34	chr21	44533884	.	C	T	979.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.57;DP=250;ExcessHet=0;FS=0.902;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=1.83;SOR=0.854	GT:AD:DP:GQ:PL	0/1:32,40:72:99:990,0,653	6	0	1	0
chr21	45495414	45495414	C	T	exonic	COL18A1	.	synonymous SNV	COL18A1:NM_030582:exon28:c.C3030T:p.S1010S,COL18A1:NM_130444:exon28:c.C3735T:p.S1245S,COL18A1:NM_001379500:exon29:c.C2490T:p.S830S	Knobloch syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	886960	not_provided|Knobloch_syndrome	MedGen:C3661900|MONDO:MONDO:0800166,MedGen:C1849409,OMIM:PS267750,Orphanet:1571	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.000798722	0.0002	0.0019	0.0006	0	0	2.254e-05	0	7.874e-05	0.0001552	24	154602	rs377601838	7.541e-05	7.593e-05	9.546e-05	5.514e-05	0.0023	6.396e-05	5.951e-05	0.0019	0.0017	0.0023	0.0003	0	0	0	0.0002	6.303e-06	0.0002	1.167e-05	0.0007	0.0007	0.0008	0.0006	0.0026	0.0006	0.0006	0.0022	0.0021	0.0026	0	6.532e-05	0	0	0	0	2.941e-05	0.0009	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	0.001514	0.000000	0.004087	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	935.83	36	chr21	45495414	.	C	T	935.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=1.27;SOR=0.668	GT:AD:DP:GQ:PL	0/1:33,39:72:99:946,0,776	6	0	1	0
chr21	46132277	46132277	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon28:c.G2785A:p.V929M	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	YES	269955	Bethlem_myopathy_1A|not_provided|Collagen_6-related_myopathy|Ullrich_congenital_muscular_dystrophy_1A	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:C3661900|MONDO:MONDO:0100225,MedGen:CN117976|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.473	0.251040784075	0.0002	0.000199681	0.0002	0	0.0001	0	0	0.0002	0	0.0004	0.0001552	24	154602	rs145527336	0.0002	0.0002	0.0002	0.0002	0.0036	0.0001	0.0001	0.0024	0.0021	0.0001	0.0003	0	0	0	0.0036	0.0001	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.696e-05	0.0002	0.0002	4.813e-05	0	0.0001	0	0	0	0	0.0003	0	0.0002	0.081	0.33418	T	0.123	0.35582	T	1.0	0.90584	D	0.988	0.77976	D	0.015856	0.28136	U	0.313934	0.999999	0.58761	D	2.32	0.66415	M	-1.16	0.78082	T	-0.41	0.14000	N	0.634	0.64733	0.061	0.83442	D	0.569	0.84381	D	10	0.5866204	0.66147	D	0.251041	0.89116	D	0.473	0.76619	.	.	0.846654732685	0.84518	0.778402159540574	0.77790	0.604138712811	0.55366	0.716341853142	0.69514	T	0.170631	0.51844	T	-0.0836815	0.39113	T	-0.0340358	0.68101	D	0.196997237944013	0.20249	T	0.784022	0.42156	T	0.06302385	0.13228	0.06363048	0.12633	0.06302385	0.13227	0.06363048	0.12633	-2.237	0.04224	T	0.4558369978791214	0.53885	0.484	0.63867	A	.	.	4.136798	0.61946	24.4	0.98036681249520852	0.37758	0.94361	0.60920	D	AEFDBCI	0.821846	0.74231	D	0.284783801192554	0.55377	3.701778	0.144463669919768	0.46849	2.924302	0.99999999989157	0.74766	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.18	4.18	0.48473	5.423000	0.66197	6.509000	0.55803	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.1695:0.8305:0.0	12.418	0.54839	982	0.03397	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.004087	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1706.45	59	chr21	46132277	.	G	A	1706.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.29;DP=387;ExcessHet=0;FS=0.715;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=2.73;SOR=0.591	GT:AD:DP:GQ:PL	0/1:46,66:112:99:1717,0,1026	6	0	1	0
chr22	18918451	18918451	C	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon11:c.G968A:p.R323H,LOC102724788:NM_001368249:exon11:c.G1292A:p.R431H,LOC102724788:NM_001368250:exon11:c.G968A:p.R323H,PRODH:NM_016335:exon11:c.G1292A:p.R431H	.	1	1322	185	14	0	213	0.0745537	.	.	YES	19050	not_specified|Proline_dehydrogenase_deficiency|Schizophrenia_4	MedGen:CN169374|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.145	.	0.0816	0.0429313	0.0794	0.0387	0.0503	0.0009	0.0537	0.1113	0.0870	0.0471	0.0744363	11508	154602	rs2904552	0.1027	0.1011	0.1062	0.0995	0.1480	0.1014	0.1009	0.1458	0.1449	0.0328	0.0685	0.1381	0.0006	0.0682	0.1018	0.1480	0.1109	0.0519	0.0509	0.0963	0.0519	0.0496	0.0957	0.0460	0.0441	0.0841	0.0797	0.0216	0.5000	0.0466	0.0789	0	0.0414	0.0370	0.0957	0.0625	0.0271	0.004	0.65419	D	0.032	0.53426	D	0.945	0.53279	P	0.408	0.44733	B	0.000345	0.45440	N	0.229694	0.999478	0.47197	A	.	.	.	1.31	0.35405	T	-3.25	0.66206	D	0.158	0.20129	-1.1817	0.00345	T	0.006	0.01981	T	10	0.0036971867	0.00068	T	.	.	.	0.145	0.38592	.	.	.	.	0.6217227933177322	0.62105	0.435677157202	0.43665	0.409796655178	0.26428	T	0.083212	0.37003	T	-0.547933	0.00300	T	-0.463128	0.26258	T	0.0329422262464058	0.02462	T	0.885311	0.61048	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.06525	B	.;.;.;.	.;.;.;.	2.691791	0.35142	19.82	0.99849403335407028	0.92925	0.80218	0.39914	D	AEFDGBI	0.380323	0.46301	N	0.0207175707020348	0.42797	2.585497	-0.030060004355919	0.38363	2.259183	0.940988181924042	0.27456	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.49	1.16	0.19936	1.447000	0.34712	0.795000	0.21604	-0.775000	0.03392	1.000000	0.71638	0.999000	0.35428	0.015000	0.10482	0.0:0.7169:0.0:0.2831	8.739	0.33706	923	0.18507	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain	.	.	.	.	rs2904552	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.100000	0.096939	0.119891	0.088235	0.111111	0.129310	0.088608	0.080769	0.1667	2237.92	38	chr22	18918451	.	C	T	2237.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.182;DP=316;ExcessHet=0.4139;FS=2.794;MLEAC=2;MLEAF=0.167;MQ=57.77;MQRankSum=-3.328;QD=13.56;ReadPosRankSum=2.21;SOR=0.965	GT:AD:DP:GQ:PL	0/1:31,45:76:99:1129,0,669	4	0	2	1
chr22	50456593	50456593	C	T	exonic	SBF1	.	nonsynonymous SNV	SBF1:NM_001365819:exon29:c.G3910A:p.A1304T,SBF1:NM_002972:exon30:c.G3985A:p.A1329T	Charcot-Marie-Tooth disease, type 4B3, Autosomal recessive	423	1096	3	0	0	3	0.00136674	.	.	.	1152941	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.199	0.051057542975	8.2e-05	.	0.0002	0.0004	0	0	0	0.0004	0	0	6.5e-06	1	154602	rs372950672	0.0001	0.0001	0.0001	0.0001	0.0024	8.894e-05	8.343e-05	0.0014	0.0011	0.0006	2.958e-05	0	0	0	0.0024	9.277e-05	0.0002	0	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	8.722e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0.0001	0.0005	0	0.598	0.05703	T	0.754	0.06621	T	.	.	.	.	.	.	0.291139	0.03895	N	1.524220	1	0.08975	N	.	.	.	-2.08	0.86146	D	-0.06	0.12099	N	0.048	0.01999	-0.7383	0.58540	T	0.270	0.64182	T	10	0.021478742	0.00515	T	0.051058	0.64501	D	0.199	0.48268	.	.	0.379214838424	0.37538	0.26583968483280024	0.26496	.	.	0.459273993969	0.33210	T	.	.	.	-0.40789	0.02053	T	-0.549382	0.17385	T	0.00184665833842765	0.00019	T	0.039696	0.00319	T	0.013443791	0.00059	0.031373706	0.01718	0.013443791	0.00059	0.031373706	0.01717	-3.823	0.21149	T	0.03314729367692009	0.00137	0.063	0.01762	B	.;.	.;.	0.427745	0.07980	4.696	0.66080541308297591	0.07955	0.07039	0.13065	N	AEFBCI	0.044220	0.07088	N	-2.00165252193559	0.00210	0.008993958	-1.95623760954631	0.00377	0.01668176	0.218223640347331	0.18324	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.38	-2.83	0.05425	-0.085000	0.11215	-1.958000	0.04434	-1.194000	0.01370	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.2911:0.4797:0.2292	7.717	0.27878	819	0.41190	.;Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001535	0.000000	0.002725	0.000000	0.000000	0.008621	0.000000	0.003846	0.07143	294.44	34	chr22	50456593	.	C	T	294.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.821;DP=236;ExcessHet=0;FS=2.602;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.01;ReadPosRankSum=0.352;SOR=1.164	GT:AD:DP:GQ:PL	0/1:33,16:49:99:305,0,728	6	0	1	0
chrX	75114753	75114753	C	T	splicing	ABCB7	NM_001271696:exon2:c.246+1G>A;NM_001271697:exon2:c.246+1G>A;NM_004299:exon2:c.249+1G>A;NM_001271699:exon2:c.249+1G>A	.	.	Anemia, sideroblastic, with ataxia, X-linked recessive	0	1488	24	10	0	44	0.0145695	1.0000	0.93	.	212052	not_specified|ABCB7-related_disorder|not_provided|Sideroblastic_Anemia_and_Ataxia	MedGen:CN169374|.|MedGen:C3661900|MedGen:CN239162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0105	0.00635762	0.0113	0.0023	0.0077	0	0.0026	0.0176	0.0105	0.0041	0.0107567	1663	154602	rs61323727	0.0152	0.0153	0.0156	0.0144	0.0178	0.0150	0.0149	0.0175	0.0174	0.0028	0.0091	0.0108	0	0.0044	0.0178	0.0178	0.0145	0.0038	0.0108	0.0109	0.0112	0.0100	0.0169	0.0103	0.0101	0.0160	0.0156	0.0030	0.0015	0.0127	0.0121	0.0003	0.0035	0.0092	0.0169	0.0118	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.80221e-28	0.81001	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.030248	0.47382	T	0.20136	0.83201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.677618	0.74826	26.2	0.99356478839424978	0.60820	0.84914	0.44009	D	AEFHCI	.	.	.	.	.	.	.	.	.	0.999920934059679	0.46280	.	.	.	.	.	.	.	.	.	.	.	.	0.936182	0.59681	5.34	5.34	0.75982	4.646000	0.61108	5.077000	0.47232	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	13.476	0.60759	146	0.94180	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	3537.72	33	chrX	75114753	.	C	T	3537.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.476;DP=357;ExcessHet=0;FS=1.15;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-1.01;SOR=0.797	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1760,183,0	5	1	1	0