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	NSWES924	WT	HH	HZ	NC
chr1	11952733	11952733	A	C	exonic	PLOD1	.	synonymous SNV	PLOD1:NM_000302:exon5:c.A577C:p.R193R,PLOD1:NM_001316320:exon6:c.A718C:p.R240R	Ehlers-Danlos syndrome, type VI, Autosomal recessive	0	1521	1	0	0	1	0.000328623	0.0001	0.004	.	276783	Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0003	0	0	0	0	0	0	0.0021	0.0002329	36	154602	rs569590633	0.0001	0.0001	6.421e-05	0.0002	0.0018	9.633e-05	9.112e-05	0.0016	0.0015	0	0	0	0	0	0.0002	9.026e-07	4.983e-05	0.0018	2.628e-05	2.625e-05	0	5.375e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	520.43	38	chr1	11952733	.	A	C	520.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=391;ExcessHet=0;FS=6.971;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=-2.314;SOR=1.586	GT:AD:DP:GQ:PL	0/1:51,23:74:99:532,0,1334	9	0	1	0
chr1	18877457	18877457	C	T	exonic	ALDH4A1	.	nonsynonymous SNV	ALDH4A1:NM_001161504:exon10:c.G916A:p.G306R,ALDH4A1:NM_001319218:exon10:c.G1096A:p.G366R,ALDH4A1:NM_003748:exon10:c.G1096A:p.G366R,ALDH4A1:NM_170726:exon10:c.G1096A:p.G366R	Hyperprolinemia, type II, Autosomal recessive	0	1453	65	4	0	73	0.0245049	.	.	.	690430	not_provided|Hyperprolinemia_type_2	MedGen:C3661900|MONDO:MONDO:0009401,MedGen:C2931835,OMIM:239510,Orphanet:79101	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	.	0.001	0.00179712	0.0075	0.0005	0.0055	0	0.0012	0.0062	0.0065	0.0170	0.0027813	430	154602	rs41306567	0.0022	0.0022	0.0018	0.0026	0.0133	0.0021	0.0021	0.0127	0.0124	0.0004	0.0016	0.0032	2.573e-05	0.0001	0.0094	0.0015	0.0027	0.0133	0.0017	0.0017	0.0014	0.0020	0.0110	0.0015	0.0015	0.0086	0.0078	0.0004	0	0.0029	0.0014	0	0	0.0102	0.0020	0.0028	0.0110	0.133	0.26409	T	0.135	0.36901	T	0.001	0.07471	B	0.009	0.14300	B	0.663870	0.10403	N	0.849423	0.791045	0.34620	D	0.155	0.08919	N	1.59	0.28836	T	0.42	0.05503	N	0.32	0.38027	-1.0269	0.21462	T	0.044	0.18742	T	10	0.007830828	0.00178	T	.	.	.	0.038	0.09825	0.412	0.44887	0.262662153117	0.25859	0.688120731099813	0.68752	0.164871079818	0.18598	0.291973412037	0.09209	T	0.055247	0.29952	T	-0.505176	0.00534	T	-0.487396	0.23664	T	0.0081906171203606	0.00098	T	0.831217	0.49813	T	0.22828704	0.45545	0.15461615	0.36279	0.23813418	0.46687	0.12986113	0.31215	-3.624	0.35202	T	.	.	0.141	0.30971	B	.;.;.;.	.;.;.;.	2.596631	0.33695	19.42	0.98291500001102539	0.39954	0.80761	0.40317	D	AEFBI	0.355282	0.44707	N	-0.584069613298834	0.19427	1.016747	-0.409398648436248	0.24722	1.355339	0.17949397804824	0.17851	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.52	2.65	0.30588	1.723000	0.37675	2.747000	0.34506	-0.193000	0.09282	0.999000	0.42656	0.998000	0.33993	0.915000	0.45038	0.0:0.8248:0.0:0.1752	9.567	0.38570	952	0.10565	Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014691	0.010417	0.010899	0.020468	0.000000	0.008621	0.012270	0.026515	0.1	2835.14	65	chr1	18877457	.	C	T	2835.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.326;DP=620;ExcessHet=0.2348;FS=0.884;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.32;SOR=0.621	GT:AD:DP:GQ:PL	0/1:75,49:124:99:1019,0,1815	8	0	2	0
chr1	37708312	37708314	TTC	-	intronic	CDCA8	.	.	.	.	430	656	353	83	0	519	0.283452	.	.	.	1310279	Neutrophil_inclusion_bodies|CDCA8-related_condition|not_specified	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2158	0.364217	0.2783	0.2577	0.4416	0.7111	0.2264	0.1916	0.2695	0.3211	0.0001537	4	26028	rs145033890	0.2126	0.2132	0.2108	0.2144	0.6712	0.2120	0.2117	0.6645	0.6617	0.2510	0.4088	0.2738	0.6712	0.2205	0.2368	0.1761	0.2370	0.3125	0.2412	0.2420	0.2349	0.2479	0.6862	0.2391	0.2383	0.6673	0.6596	0.2534	0.1154	0.3139	0.2784	0.6862	0.2248	0.2021	0.1800	0.2481	0.3272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	21220.9	153	chr1	37708311	.	TTTC	T	21220.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.353;DP=1240;ExcessHet=7.0302;FS=0.525;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=19.34;ReadPosRankSum=-0.13;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,57:129:99:0|1:37708311_TTTC_T:2162,0,2836:37708311	3	0	7	0
chr1	55052420	55052420	G	A	intronic	PCSK9	.	.	.	Hypercholesterolemia, familial, 3	2	1308	202	10	0	222	0.0782241	.	.	.	249986	Familial_hypercholesterolemia|not_specified|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|Hypobetalipoproteinemia|Cardiovascular_phenotype	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0457	0.0391374	0.0424	0.0404	0.0280	0.0311	0.0208	0.0476	0.0474	0.0471	0.0415907	6430	154602	rs11800243	0.0427	0.0427	0.0426	0.0429	0.1242	0.0425	0.0423	0.1167	0.1137	0.0413	0.0294	0.0973	0.0263	0.0236	0.1242	0.0428	0.0472	0.0439	0.0403	0.0404	0.0420	0.0386	0.0449	0.0395	0.0391	0.0411	0.0406	0.0394	0.0439	0.0355	0.0931	0.0298	0.0173	0.1531	0.0424	0.0550	0.0449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	5243.14	33	chr1	55052420	.	G	A	5243.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.67;DP=840;ExcessHet=0.2348;FS=1.25;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=0.493;SOR=0.768	GT:AD:DP:GQ:PL	0/1:69,97:166:99:2597,0,1618	8	0	2	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	53564.2	184	chr1	55057360	.	A	G	53564.2	.	AC=20;AF=1;AN=20;DP=1789;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=20;MLEAF=1;MQ=60;QD=30.77;SOR=0.741	GT:AD:DP:GQ:PL	1/1:0,156:156:99:4845,468,0	0	10	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	6690.94	39	chr1	89054646	.	GAAAAAC	G	6690.94	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.661;DP=417;ExcessHet=1.0516;FS=4.297;InbreedingCoeff=-0.0101;MLEAC=9;MLEAF=0.45;MQ=59.81;MQRankSum=0;QD=23.07;ReadPosRankSum=-0.045;SOR=0.967	GT:AD:DP:GQ:PL	0/1:22,15:37:99:564,0,857	3	2	5	0
chr1	115768745	115768745	-	CACACACA	upstream	CASQ2	dist=31	.	.	Ventricular tachycardia, catecholaminergic polymorphic, 2, Autosomal recessive	174	45	1	6	0	13	0.126214	.	.	.	276560	not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs146969305	0.1842	0.1553	0.1850	0.1836	0.3021	0.1831	0.1827	0.2964	0.2941	0.2111	0.2019	0.1468	0.3021	0.1712	0.2459	0.1677	0.1886	0.2083	0.2268	0.2282	0.2245	0.2291	0.3736	0.2247	0.2239	0.3595	0.3538	0.2535	0.4339	0.2294	0.1687	0.3736	0.2257	0.3000	0.1986	0.2242	0.2367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	236.27	5	chr1	115768745	.	G	GCACACACA	236.27	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.674;DP=24;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=29.53;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:71:71,0,78	4	1	1	4
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	0.05	505.43	33	chr1	119743997	.	C	A	505.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.103;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.97;SOR=0.719	GT:AD:DP:GQ:PL	0/1:30,23:53:99:517,0,697	9	0	1	0
chr1	155295423	155295423	G	T	intronic	PKLR	.	.	.	Adenosine triphosphate, elevated, of erythrocytes, Autosomal dominant;Pyruvate kinase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	864992	Pyruvate_kinase_deficiency_of_red_cells|not_provided	MONDO:MONDO:0009950,MedGen:C0340968,OMIM:266200,Orphanet:766|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	0.000998403	0.0002	0.0018	0	0	0	3.735e-05	0	0	0.0001423	22	154602	rs201156800	4.867e-05	4.925e-05	5.865e-05	3.858e-05	0.0016	3.934e-05	3.612e-05	0.0013	0.0012	0.0016	4.532e-05	0	0	0	0	3.601e-06	0.0001	1.162e-05	0.0004	0.0004	0.0004	0.0005	0.0015	0.0004	0.0003	0.0012	0.0011	0.0015	0	0.0003	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	531.43	35	chr1	155295423	.	G	T	531.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.656;DP=399;ExcessHet=0;FS=1.124;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.528;SOR=0.446	GT:AD:DP:GQ:PL	0/1:26,22:48:99:543,0,612	9	0	1	0
chr1	155612535	155612535	G	A	exonic	MSTO1	.	nonsynonymous SNV	MSTO1:NM_001256532:exon9:c.G931A:p.E311K,MSTO1:NM_001256533:exon9:c.G931A:p.E311K,MSTO1:NM_001350772:exon9:c.G931A:p.E311K,MSTO1:NM_001350773:exon9:c.G931A:p.E311K,MSTO1:NM_001350774:exon9:c.G931A:p.E311K,MSTO1:NM_001350775:exon9:c.G931A:p.E311K,MSTO1:NM_001350776:exon9:c.G766A:p.E256K,MSTO1:NM_001350777:exon9:c.G400A:p.E134K,MSTO1:NM_001350778:exon9:c.G400A:p.E134K,MSTO1:NM_001350779:exon9:c.G400A:p.E134K,MSTO1:NM_001350780:exon9:c.G397A:p.E133K,MSTO1:NM_001350781:exon9:c.G397A:p.E133K,MSTO1:NM_001350782:exon9:c.G397A:p.E133K,MSTO1:NM_001350783:exon9:c.G397A:p.E133K,MSTO1:NM_001350784:exon9:c.G388A:p.E130K,MSTO1:NM_001350785:exon9:c.G388A:p.E130K,MSTO1:NM_001350786:exon9:c.G397A:p.E133K,MSTO1:NM_001350787:exon9:c.G388A:p.E130K,MSTO1:NM_001350788:exon9:c.G397A:p.E133K,MSTO1:NM_001350789:exon9:c.G388A:p.E130K,MSTO1:NM_018116:exon9:c.G931A:p.E311K	.	.	.	.	.	.	.	.	.	.	.	1371622	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.023	0.00315239018614	0.0002	0.000798722	9.12e-05	0.0010	0	0	0	0	0	6.177e-05	9.7e-05	15	154602	rs149058840	3.765e-05	3.762e-05	4.359e-05	3.164e-05	0.0011	2.961e-05	2.657e-05	0.0008	0.0007	0.0011	2.239e-05	0	0	3.747e-05	0	5.396e-06	0.0001	2.319e-05	0.0003	0.0003	0.0003	0.0004	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	0.0002	0	0	0.0003	0	1.471e-05	0.0005	0	0.47	0.08483	T	0.835	0.03663	T	0.001	0.07471	B	0.001	0.04355	B	0.193480	0.16784	N	0.605804	1	0.08975	N	1.1	0.28011	L	0.93	0.44065	T	-0.41	0.14000	N	0.156	0.23758	-0.9457	0.41698	T	0.018	0.07329	T	10	0.008788198	0.00199	T	0.003152	0.06876	T	0.023	0.04649	.	.	0.0716867268079	0.06686	0.5001452844135879	0.49935	0.548597812381	0.51797	0.349145442247	0.17797	T	0.00127	0.00758	T	-0.530671	0.00380	T	-0.594241	0.13300	T	0.00365277862045141	0.00039	T	0.762724	0.40920	T	0.020860644	0.00661	0.040193457	0.04289	0.020860644	0.00661	0.040193457	0.04289	-0.303	0.00659	T	.	.	0.082	0.10449	B	.;.;.	.;.;.	2.133290	0.27159	17.37	0.66476607270756138	0.08070	0.34847	0.25164	N	AEFBI	0.210421	0.33631	N	-1.36959779841228	0.02927	0.1299859	-1.37330132618091	0.03539	0.1652785	6.64698718344127E-5	0.04366	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.44	-0.672	0.10805	0.791000	0.26577	2.973000	0.35807	-0.451000	0.05143	0.405000	0.26210	0.999000	0.35428	0.074000	0.16894	0.0912:0.5176:0.3912:0.0	9.255	0.36735	79	0.96716	.;DML1/Misato, tubulin 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	.	.	.	.	.	.	.	.	0.05	1456.43	36	chr1	155612535	.	G	A	1456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.168;DP=446;ExcessHet=0;FS=0.679;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.59;MQRankSum=1.52;QD=12.24;ReadPosRankSum=-0.264;SOR=0.782	GT:AD:DP:GQ:PL	0/1:56,63:119:99:1468,0,1255	9	0	1	0
chr1	158618068	158618068	G	A	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	3	913	508	98	0	704	0.278261	0.0005	0.264	YES	249428	Hemolytic_anemia|not_specified|Hereditary_spherocytosis_type_3|not_provided|Elliptocytosis_2|Pyropoikilocytosis,_hereditary	Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2491	0.227835	0.2564	0.1998	0.1610	0.1912	0.3018	0.2874	0.2617	0.2473	0.255081	39436	154602	rs28525570	0.2712	0.2729	0.2704	0.2720	0.2797	0.2705	0.2702	0.2788	0.2785	0.1970	0.1760	0.3492	0.2025	0.2895	0.2419	0.2797	0.2632	0.2453	0.2538	0.2539	0.2524	0.2553	0.2882	0.2517	0.2508	0.2848	0.2834	0.1983	0.2286	0.2184	0.3417	0.1855	0.3091	0.3265	0.2882	0.2640	0.2447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	5761.96	48	chr1	158618068	.	G	A	5761.96	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.693;DP=584;ExcessHet=0.6204;FS=3.959;InbreedingCoeff=0.0476;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=0.361;SOR=0.533	GT:AD:DP:GQ:PL	0/1:31,31:62:99:669,0,821	5	1	4	0
chr1	158627717	158627717	G	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon40:c.C5572G:p.L1858V	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	5	902	520	95	0	710	0.282418	.	.	YES	249434	not_specified|Hereditary_spherocytosis_type_3|Pyropoikilocytosis,_hereditary|Elliptocytosis_2|Hemolytic_anemia|not_provided	MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	0.2495	0.227835	0.2567	0.2000	0.1610	0.1910	0.3021	0.2878	0.2617	0.2475	0.255042	39430	154602	rs3737515	0.2731	0.2734	0.2725	0.2737	0.2819	0.2723	0.2721	0.2810	0.2807	0.1983	0.1760	0.3506	0.2028	0.2894	0.2433	0.2819	0.2648	0.2460	0.2536	0.2539	0.2523	0.2550	0.2882	0.2515	0.2506	0.2848	0.2834	0.1981	0.2286	0.2176	0.3430	0.1851	0.3087	0.3207	0.2882	0.2621	0.2442	0.009	0.57480	D	0.019	0.59159	D	0.601	0.39346	P	0.395	0.44317	B	0.295829	0.14686	N	0.398187	0.0322052	0.38617	P	2.66	0.77858	M	0.82	0.48142	T	-2.39	0.52612	N	0.242	0.27316	-1.0044	0.28636	T	0.100	0.37162	T	9	0.0018082857	0.00024	T	.	.	.	0.176	0.44373	.	.	.	.	0.10204742782828059	0.10134	0.151848470416	0.17138	0.413743078709	0.26975	T	0.398082	0.75628	T	-0.578861	0.00196	T	-0.46045	0.26549	T	0.0265270473936109	0.01477	T	0.989945	0.96848	D	0.47455317	0.65569	0.45098418	0.68054	0.5292539	0.68789	0.3938572	0.64094	-7.424	0.57073	T	0.4696991537525536	0.55038	0.119	0.24430	B	.;.	.;.	2.721452	0.35600	19.94	0.99057226967889789	0.51390	0.97183	0.73178	D	AEFBI	0.628036	0.61027	D	-0.0876209270705267	0.37935	2.214285	-0.10368608914381	0.35242	2.036537	0.00115487049960551	0.08283	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.55	2.68	0.30839	2.724000	0.46956	1.029000	0.23465	-0.106000	0.15538	1.000000	0.71638	0.238000	0.23831	0.191000	0.21631	0.2184:0.0:0.7816:0.0	10.249	0.42538	645	0.63593	.;.	CD1B	Whole_Blood	SPTA1|SPTA1	Testis|Whole_Blood	rs3737515	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.251259	0.282828	0.233696	0.292398	0.200000	0.250000	0.210366	0.265152	0.3	9252.96	36	chr1	158627717	.	G	C	9252.96	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.763;DP=799;ExcessHet=0.6204;FS=0.537;InbreedingCoeff=0.0476;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=0.229;SOR=0.603	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1083,0,1497	5	1	4	0
chr1	158635967	158635967	C	T	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon38:c.G5378A:p.R1793Q	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	276701	Elliptocytosis_2|Pyropoikilocytosis,_hereditary|Hereditary_spherocytosis_type_3|not_provided	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.367	0.0902625210776	0.0015	0.000399361	0.0013	0.0003	0.0003	0.0001	0.0006	0.0021	0.0033	0.0006	0.0012678	196	154602	rs200938874	0.0018	0.0018	0.0018	0.0018	0.0018	0.0017	0.0017	0.0017	0.0017	0.0004	0.0003	0.0155	5.038e-05	0.0006	0.0016	0.0018	0.0022	0.0006	0.0013	0.0013	0.0012	0.0014	0.0016	0.0012	0.0011	0.0013	0.0012	0.0003	0	0.0005	0.0141	0.0004	0.0008	0	0.0016	0.0043	0.0006	0.023	0.48186	D	0.004	0.74150	D	1.0	0.90584	D	0.994	0.82059	D	0.012655	0.29101	N	0.000000	0.999969	0.52935	D	2.43	0.70455	M	0.56	0.54540	T	-3.44	0.67477	D	0.739	0.73916	-0.5707	0.65986	T	0.310	0.68085	T	10	0.009819269	0.00220	T	0.090263	0.75484	D	0.367	0.68670	.	.	0.711956708817	0.70943	0.2637236965323406	0.26285	0.234002417915	0.25937	0.359785854816	0.19354	T	0.456702	0.79536	T	-0.208883	0.19537	T	-0.0974499	0.63595	T	0.0325640788605959	0.02399	T	0.968103	0.88413	D	0.8250712	0.85564	0.69526035	0.82059	0.8015135	0.84004	0.7078286	0.82772	-6.059	0.46770	T	0.6496440464384736	0.72159	0.127	0.27131	B	.;.	.;.	3.820922	0.55171	23.6	0.99941914639889184	0.99824	0.98337	0.81764	D	AEFBI	0.923805	0.90086	D	0.753758718908584	0.83151	7.942375	0.695342416779889	0.82023	7.665841	0.999999993920296	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	7.537000	0.80946	4.816000	0.45080	0.599000	0.40250	1.000000	0.71638	0.971000	0.29754	0.906000	0.44173	0.0:1.0:0.0:0.0	18.470	0.90715	666	0.61362	.;.	.	.	.	.	.	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	0.002014	0.000000	0.001359	0.002924	0.050000	0.000000	0.003049	0.000000	0.05	1434.43	33	chr1	158635967	.	C	T	1434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=460;ExcessHet=0;FS=0.601;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=1.47;SOR=0.634	GT:AD:DP:GQ:PL	0/1:86,65:151:99:1446,0,1890	9	0	1	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	7287.34	63	chr1	158668075	.	GAAA	G	7287.34	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.759;DP=622;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=18.22;ReadPosRankSum=-0.222;SOR=0.701	GT:AD:DP:GQ:PL	1/0:1,16:36:99:1050,453,573	6	1	3	0
chr1	158668076	158668076	A	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277732	Pyropoikilocytosis,_hereditary|not_provided|Spherocytosis,_Recessive|Elliptocytosis	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.295927	0.2594	0.3676	0.2026	0.2423	0.2213	0.2473	0.2422	0.3088	0.0001153	3	26028	rs5778087	0.2240	0.2318	0.2228	0.2252	0.3653	0.2233	0.2230	0.3595	0.3571	0.3653	0.1704	0.2138	0.2344	0.1747	0.2460	0.2196	0.2324	0.2731	0.2818	0.2831	0.2829	0.2807	0.4731	0.2795	0.2785	0.4673	0.4649	0.4731	0.0657	0.1879	0.2095	0.2214	0.1760	0.2259	0.2103	0.2655	0.2866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	7287.34	63	chr1	158668075	.	GA	G	7287.34	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.759;DP=622;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=18.22;ReadPosRankSum=-0.222;SOR=0.701	GT:AD:DP:GQ:PL	0/1:1,19:36:99:1050,530,438	2	0	8	0
chr1	158671409	158671409	T	C	exonic	SPTA1	.	synonymous SNV	SPTA1:NM_003126:exon12:c.A1533G:p.A511A	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	276731	Elliptocytosis_2|Hereditary_spherocytosis_type_3|Pyropoikilocytosis,_hereditary|SPTA1-related_disorder|not_provided	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0063	0.00738818	0.0022	0.0259	0.0010	0	0	3.011e-05	0	0	0.0020504	317	154602	rs34446973	0.0007	0.0007	0.0008	0.0005	0.0234	0.0006	0.0006	0.0221	0.0215	0.0234	0.0014	0	0	0	0.0015	8.094e-06	0.0015	3.48e-05	0.0066	0.0066	0.0072	0.0058	0.0232	0.0062	0.0061	0.0220	0.0215	0.0232	0	0.0017	0	0	0	0.0068	2.94e-05	0.0019	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	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	366.43	33	chr1	158671409	.	T	C	366.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.525;DP=352;ExcessHet=0;FS=15.443;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.41;SOR=2.118	GT:AD:DP:GQ:PL	0/1:25,17:42:99:378,0,716	9	0	1	0
chr1	161214269	161214269	-	TG	UTR3	NDUFS2	NM_001377298:c.*76_*77insTG;NM_001377300:c.*328_*329insTG;NM_001377301:c.*328_*329insTG;NM_004550:c.*76_*77insTG;NM_001166159:c.*328_*329insTG;NM_001377299:c.*76_*77insTG;NM_001377302:c.*119_*120insTG	.	.	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	277997	not_provided|Mitochondrial_complex_I_deficiency	MedGen:C3661900|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs10629771	0.1891	0.2001	0.1864	0.1915	0.3431	0.1882	0.1879	0.3377	0.3355	0.2667	0.2662	0.2049	0.3431	0.2001	0.2120	0.1597	0.2040	0.2476	0.2808	0.2843	0.2797	0.2819	0.4674	0.2785	0.2776	0.4514	0.4450	0.3792	0.1481	0.2737	0.2503	0.4674	0.2163	0.2877	0.2202	0.2911	0.3197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4867.77	26	chr1	161214269	.	C	CTG	4867.77	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.191;DP=419;ExcessHet=2.8549;FS=5.908;InbreedingCoeff=-0.2492;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=24.46;ReadPosRankSum=0.823;SOR=0.209	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,21:24:23:.:.:581,0,23:.	5	0	5	0
chr1	161223056	161223061	CACACA	-	intronic	APOA2	.	.	.	Apolipoprotein A-II deficiency (3)	.	.	.	.	.	.	.	.	.	.	278001	Apolipoprotein_A-II_deficiency|APOA2-related_disorder|not_specified	MedGen:C3888202|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2676	0.2838	0.2889	0.3239	0.2824	0.2425	0.2683	0.3068	0.0001153	3	26028	rs141599125	0.2640	0.2643	0.2635	0.2644	0.3260	0.2632	0.2630	0.3212	0.3193	0.2963	0.2953	0.2656	0.3260	0.2789	0.2856	0.2556	0.2720	0.2986	0.3231	0.3245	0.3194	0.3271	0.3985	0.3207	0.3197	0.3839	0.3779	0.3433	0.3060	0.3376	0.3225	0.3985	0.3523	0.2740	0.2943	0.3310	0.3783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	19848.5	67	chr1	161223055	.	CCACACA	C	19848.5	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.205;DP=1096;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=6;MLEAF=0.3;MQ=59.99;MQRankSum=0;QD=29.15;ReadPosRankSum=0.157;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,46:83:99:2608,735,1081	4	1	5	0
chr1	168293284	168293284	-	GTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278196	not_provided|not_specified|Congenital_isolated_adrenocorticotropic_hormone_deficiency	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0333	0.0427	0.0224	0.0212	0.0098	0.0195	0.0439	0.0785	0.003842	100	26028	rs746838916	0.0596	0.0819	0.0593	0.0600	0.1098	0.0593	0.0591	0.1069	0.1057	0.0570	0.1098	0.0482	0.0845	0.0707	0.0885	0.0555	0.0629	0.0722	0.1451	0.1522	0.1446	0.1456	0.1848	0.1432	0.1425	0.1784	0.1758	0.1799	0.1222	0.1848	0.0991	0.1600	0.1397	0.1396	0.1219	0.1484	0.1679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	5220.75	36	chr1	168293284	.	A	AGTGT	5220.75	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-1.072;DP=863;ExcessHet=0.3131;FS=49.227;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=1.3;SOR=2.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,8:32:99:.:.:313,0,778:.	6	0	4	0
chr1	179557079	179557079	C	T	exonic	NPHS2	.	nonsynonymous SNV	NPHS2:NM_014625:exon5:c.G686A:p.R229Q	Nephrotic syndrome, type 2, Autosomal recessive	1	1447	71	3	0	77	0.0259172	.	.	YES	20409	NPHS2-related_disorder|Proteinuria|Nephrotic_syndrome|not_specified|Inborn_genetic_diseases|Nephrotic_syndrome,_type_2|.|Focal_segmental_glomerulosclerosis|not_provided	.|Human_Phenotype_Ontology:HP:0000093,MONDO:MONDO:0003634,MedGen:C0033687|Human_Phenotype_Ontology:HP:0000100,Human_Phenotype_Ontology:HP:0000801,Human_Phenotype_Ontology:HP:0004718,Human_Phenotype_Ontology:HP:0008638,Human_Phenotype_Ontology:HP:0008727,MONDO:MONDO:0005377,MedGen:C0027726|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010974,MedGen:C1868672,OMIM:600995,Orphanet:656|.|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.580	.	0.0274	0.0145767	0.0296	0.0074	0.0087	0.0002	0.0658	0.0375	0.0246	0.0273	0.0290229	4487	154602	rs61747728	0.0355	0.0355	0.0354	0.0356	0.0376	0.0353	0.0352	0.0373	0.0372	0.0057	0.0140	0.0485	7.559e-05	0.0661	0.0170	0.0376	0.0331	0.0280	0.0277	0.0277	0.0271	0.0284	0.0374	0.0270	0.0267	0.0362	0.0357	0.0061	0.0658	0.0186	0.0565	0.0004	0.0664	0.0034	0.0374	0.0199	0.0282	0.21	0.19639	T	0.179	0.29540	T	0.903	0.49795	P	0.313	0.41496	B	0.000015	0.62929	D	0.070347	0.999998	0.81001	D	1.68	0.43186	L	-3.57	0.94904	D	-2.1	0.47852	N	0.11	0.09631	0.010	0.82461	D	0.348	0.71257	T	10	0.00867492	0.00196	T	.	.	.	0.580	0.83081	.	.	.	.	0.6645189682641829	0.66388	0.805380534221	0.66431	0.368850588799	0.20667	T	0.710983	0.91756	D	-0.148293	0.28579	T	0.0427785	0.73110	D	0.0303930250691861	0.02050	T	0.885211	0.61002	D	0.41818437	0.61971	0.33342767	0.59180	0.38918266	0.59974	0.2819649	0.54181	-7.559	0.58024	D	0.3024639792626065	0.39990	0.113	0.22208	B	.	.	3.991594	0.58755	24.0	0.99923653484275776	0.98917	0.79160	0.39174	D	AEFBI	0.302058	0.41041	N	0.400990723799176	0.61479	4.349355	0.493996566170717	0.67591	5.104625	0.282388409204083	0.19001	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	2.460000	0.44689	4.818000	0.45095	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.918	0.92484	549	0.72275	Band 7 domain|Band 7 domain	RALGPS2|AXDND1|RP11-545A16.1|AXDND1|FAM163A|RP11-12M5.3	Artery_Tibial|Colon_Transverse|Colon_Transverse|Thyroid|Thyroid|Thyroid	.	.	rs61747728	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	0.012085	0.005051	0.006793	0.002924	0.100000	0.000000	0.018293	0.018939	0.1	2667.14	41	chr1	179557079	.	C	T	2667.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.232;DP=563;ExcessHet=0.2348;FS=0.454;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=2.19;SOR=0.654	GT:AD:DP:GQ:PL	0/1:68,61:129:99:1337,0,1510	8	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	.	.	.	.	.	.	.	.	0.55	12534.0	97	chr1	179889309	.	G	A	12534.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.448;DP=724;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=1.19;SOR=0.658	GT:AD:DP:GQ:PL	0/1:47,49:96:99:1084,0,1165	2	3	5	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	207	250	453	612	0	1677	0.770326	.	.	YES	278205	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.631923	0.681818	0.582880	0.669591	0.500000	0.620690	0.606707	0.696970	0.6	22498.0	35	chr1	196690107	.	C	T	22498.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=-0.327;DP=1336;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.25;MLEAC=12;MLEAF=0.6;MQ=59.98;MQRankSum=0;QD=17.63;ReadPosRankSum=0.497;SOR=0.653	GT:AD:DP:GQ:PL	0/1:95,50:145:99:1107,0,2479	1	3	6	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	37050.2	98	chr1	226735804	.	G	T	37050.2	.	AC=20;AF=1;AN=20;DP=1183;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=20;MLEAF=1;MQ=60;QD=32.05;SOR=0.725	GT:AD:DP:GQ:PL	1/1:0,131:131:99:4031,393,0	0	10	0	0
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A	.	424	234	529	335	0	1199	0.719256	.	.	YES	1704219	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.5142	0.610423	0.5305	0.5845	0.7358	0.6685	0.4347	0.4720	0.5254	0.5623	0.50903	78697	154602	rs6667260	0.4825	0.4819	0.4809	0.4841	0.7102	0.4815	0.4811	0.7027	0.6996	0.5746	0.7102	0.5629	0.6813	0.4308	0.6177	0.4599	0.5103	0.5424	0.5227	0.5226	0.5220	0.5234	0.6711	0.5197	0.5184	0.6525	0.6449	0.5810	0.4967	0.6248	0.5700	0.6711	0.4299	0.6190	0.4617	0.5449	0.5568	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.982952	0.08082	N	0.990786	1	0.08975	P	-1.445	0.00556	N	2.07	0.20523	T	0.05	0.06369	N	0.012	0.00279	-0.9439	0.41992	T	0.000	0.00011	T	9	3.5098994e-06	0.00003	T	.	.	.	0.047	0.12962	.	.	.	.	0.05903511649592833	0.05844	0.161341295611	0.18212	0.352891504765	0.18347	T	0.023569	0.17967	T	-0.842882	0.00003	T	-0.839698	0.01103	T	0.0107150276910547	0.00151	T	0.0740926	0.00542	T	0.03752211	0.04827	0.026574247	0.00754	0.03752211	0.04827	0.026574247	0.00754	-4.077	0.24950	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-0.032082	0.04066	0.946	0.19618645798258003	0.00670	0.00108	0.00689	N	AEFBCI	0.019005	0.00622	N	-1.50554167816208	0.01813	0.07947133	-1.45024527399043	0.02768	0.1279108	0.999628074989162	0.41093	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.636168	0.56350	0	.	.	4.1	1.01	0.19044	-0.836000	0.04489	-0.357000	0.09702	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.324:0.3961:0.0:0.28	3.041	0.05767	845	0.36510	.;.;.	PSEN2|COQ8A|PSEN2|PSEN2|ITPKB|COQ8A	Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Whole_Blood|Whole_Blood	COQ8A|PSEN2	Adipose_Subcutaneous|Lung	rs6667260	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.625378	0.616162	0.653533	0.640351	0.700000	0.672414	0.628049	0.496212	0.6	10458.0	68	chr1	226736237	.	A	C	10458.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=1.72;DP=639;ExcessHet=2.8549;FS=1.83;InbreedingCoeff=-0.25;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=19.37;ReadPosRankSum=-0.399;SOR=0.875	GT:AD:DP:GQ:PL	0/1:31,25:56:99:708,0,1018	1	3	6	0
chr1	226737175	226737183	CTGCCGCTG	-	exonic	ITPKB	.	nonframeshift deletion	ITPKB:NM_002221:exon2:c.276_284del:p.G94_S96del	.	422	529	453	118	0	689	0.39439	.	.	.	1704216	not_specified|Myeloproliferative_neoplasm,_unclassifiable	MedGen:CN169374|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2063	0.281949	0.2860	0.2580	0.2922	0.2649	0.2750	0.2861	0.3190	0.3021	0.0001153	3	26028	rs147889095	0.2812	0.2802	0.2803	0.2821	0.3168	0.2805	0.2802	0.3045	0.2996	0.2472	0.2922	0.2918	0.2716	0.2734	0.3168	0.2803	0.2944	0.2936	0.2774	0.2784	0.2782	0.2765	0.3020	0.2752	0.2742	0.2947	0.2918	0.2558	0.3792	0.3020	0.2989	0.2778	0.2744	0.2789	0.2810	0.2973	0.2968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	5660.87	51	chr1	226737174	.	ACTGCCGCTG	A	5660.87	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.762;DP=463;ExcessHet=0.0952;FS=13.074;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=27.09;ReadPosRankSum=0.511;SOR=1.518	GT:AD:DP:GQ:PL	0/1:27,28:55:99:1095,0,1049	5	2	3	0
chr1	235677195	235677195	G	T	intronic	LYST	.	.	.	Chediak-Higashi syndrome, Autosomal recessive	0	1478	44	0	0	44	0.0146667	0.0003	0.034	.	237053	not_provided|Chédiak-Higashi_syndrome|Autoinflammatory_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0060	0.00359425	0.0067	0.0010	0.0030	0.0001	0.0071	0.0079	0.0122	0.0106	0.0064035	990	154602	rs72761794	0.0085	0.0084	0.0082	0.0087	0.0130	0.0083	0.0083	0.0109	0.0107	0.0009	0.0031	0.0072	2.526e-05	0.0087	0.0130	0.0090	0.0078	0.0115	0.0063	0.0063	0.0064	0.0061	0.0104	0.0059	0.0058	0.0092	0.0090	0.0014	0	0.0041	0.0049	0.0002	0.0076	0.0068	0.0098	0.0062	0.0104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	405.43	33	chr1	235677195	.	G	T	405.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.733;DP=323;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-2.803;SOR=0.681	GT:AD:DP:GQ:PL	0/1:13,19:32:99:417,0,278	9	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	1518.8	17	chr1	237833281	.	G	GA	1518.8	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.529;DP=206;ExcessHet=8.8523;FS=4.059;InbreedingCoeff=-0.5178;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.56;SOR=1.203	GT:AD:DP:GQ:PL	0/1:6,3:9:52:52,0,131	1	0	9	0
chr1	241500602	241500602	-	GAGAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281943	Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_provided|not_specified	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0104887	273	26028	rs144131869	0.1525	0.1590	0.1541	0.1509	0.1598	0.1519	0.1517	0.1592	0.1589	0.1416	0.1037	0.1260	0.1186	0.1150	0.1201	0.1598	0.1481	0.1335	0.2022	0.2027	0.2033	0.2011	0.2258	0.2002	0.1994	0.2227	0.2215	0.1753	0.1505	0.1884	0.1918	0.1716	0.1744	0.1889	0.2258	0.1997	0.2131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4847.39	14	chr1	241500602	.	T	TGAGAGA	4847.39	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.178;DP=402;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=5;MLEAF=0.25;MQ=59.93;MQRankSum=0;QD=27.7;ReadPosRankSum=-0.227;SOR=0.678	GT:AD:DP:GQ:PL	1/1:0,9:9:26:388,26,0	5	1	4	0
chr2	21001981	21001981	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.G13441A:p.A4481T	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	1	1400	113	8	0	129	0.0440423	.	.	.	133868	Cardiovascular_phenotype|not_provided|Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|Hypercholesterolemia,_familial,_1|Familial_hypercholesterolemia|not_specified	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	.	0.0285	0.0141773	0.0241	0.0057	0.0158	0.0002	0.0203	0.0330	0.0309	0.0187	0.0248703	3845	154602	rs1801695	0.0317	0.0317	0.0317	0.0317	0.0614	0.0315	0.0314	0.0561	0.0540	0.0062	0.0195	0.0352	0.0001	0.0215	0.0614	0.0354	0.0287	0.0206	0.0260	0.0260	0.0261	0.0259	0.0406	0.0253	0.0250	0.0380	0.0369	0.0062	0.0802	0.0406	0.0366	0	0.0238	0.0578	0.0359	0.0322	0.0205	0.148	0.24857	T	0.127	0.35082	T	.	.	.	.	.	.	0.681940	0.10251	N	0.840251	1	0.08975	N	.	.	.	1.19	0.37578	T	-1.3	0.32590	N	0.02	0.00308	-1.0802	0.07310	T	0.013	0.05033	T	10	0.0020777583	0.00030	T	.	.	.	0.033	0.08068	.	.	.	.	0.09369258253249489	0.09301	0.0364196431978	0.03852	0.293061554432	0.09370	T	.	.	.	-0.628348	0.00098	T	-0.649592	0.08983	T	0.00430711358315662	0.00046	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13503	B	.	.	0.198878	0.05841	2.280	0.98444457265597174	0.41553	0.41293	0.26625	N	AEFBCI	0.409012	0.48046	N	-0.834480860197701	0.12435	0.6061245	-0.81574845949859	0.14113	0.7358027	0.88503607229943	0.25708	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	-0.996	0.09696	0.190000	0.16864	-1.438000	0.05439	0.549000	0.26987	0.969000	0.34210	0.000000	0.08366	0.092000	0.17891	0.4201:0.2784:0.0:0.3014	5.082	0.13995	861	0.33516	.	APOB	Adipose_Subcutaneous	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.044814	0.020202	0.058424	0.049708	0.000000	0.060345	0.054878	0.015152	0.05	1269.43	35	chr2	21001981	.	C	T	1269.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.635;DP=540;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.081;SOR=0.829	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1281,0,1714	9	0	1	0
chr2	21012419	21012419	T	C	exonic	APOB	.	synonymous SNV	APOB:NM_000384:exon26:c.A4449G:p.E1483E	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	287589	Hypercholesterolemia,_autosomal_dominant,_type_B|Cardiovascular_phenotype|Familial_hypobetalipoproteinemia_1|not_provided|Familial_hypercholesterolemia	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN230736|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MedGen:C3661900|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.00299521	0.0019	0	0.0003	0.0001	0	0.0004	0.0022	0.0118	0.0015977	247	154602	rs151018874	0.0009	0.0009	0.0007	0.0012	0.0119	0.0009	0.0009	0.0113	0.0111	5.974e-05	0.0004	0	5.038e-05	1.872e-05	0.0019	0.0002	0.0009	0.0119	0.0006	0.0006	0.0004	0.0008	0.0135	0.0005	0.0005	0.0108	0.0099	2.405e-05	0	0.0001	0	0	9.407e-05	0	0.0004	0.0005	0.0135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	5936.43	45	chr2	21012419	.	T	C	5936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.365;DP=861;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.281;SOR=0.783	GT:AD:DP:GQ:PL	0/1:253,243:496:99:5948,0,6665	9	0	1	0
chr2	29070955	29070955	T	C	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.A3307G:p.R1103G	.	0	1520	2	0	0	2	0.000657462	.	.	.	884654	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.00843649577828	0.0002	0.000199681	0.0002	0	0	0	0	6.105e-05	0	0.0010	0.0001358	21	154602	rs375443061	7.457e-05	7.525e-05	4.357e-05	0.0001	0.0009	6.316e-05	5.874e-05	0.0008	0.0007	0	4.472e-05	0	2.519e-05	0	0.0005	1.709e-05	6.623e-05	0.0009	3.299e-05	3.285e-05	2.581e-05	4.049e-05	0.0006	1.265e-05	8.01e-06	0.0002	9.093e-05	0	0	0	0	0	0	0	2.946e-05	0	0.0006	0.283	0.15354	T	0.435	0.13518	T	0.125	0.26866	B	0.039	0.23607	B	0.174443	0.17279	N	0.585904	1	0.08975	N	.	.	.	2.09	0.20122	T	-1.4	0.34596	N	0.068	0.04072	-1.0236	0.22541	T	0.031	0.13242	T	10	0.014190376	0.00299	T	0.008436	0.22332	T	0.029	0.06676	.	.	0.202949470691	0.19918	0.0918954900771021	0.09122	0.013806529044	0.01320	.	.	.	0.006609	0.06037	T	-0.637126	0.00087	T	-0.752718	0.03381	T	0.0104275821443778	0.00143	T	0.413759	0.10783	T	0.061695296	0.12805	0.050455235	0.07922	0.062107082	0.12934	0.041946378	0.04884	-3.316	0.13945	T	.	.	0.069	0.03162	B	.	.	0.878960	0.12522	9.051	0.89386227866344115	0.18752	0.30761	0.24165	N	AEFDBI	0.185858	0.31318	N	-0.895985071674855	0.10937	0.5252085	-0.928013551089352	0.11435	0.5824985	0.122246644503087	0.16909	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	0.166	0.14287	0.100000	0.15067	-0.869000	0.07110	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.561000	0.30436	0.0:0.1948:0.2348:0.5704	5.864	0.18011	449	0.79428	.	.	.	.	.	.	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	0.05	7454.43	34	chr2	29070955	.	T	C	7454.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.333;DP=1040;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=1.06;SOR=0.669	GT:AD:DP:GQ:PL	0/1:364,326:690:99:7466,0,8637	9	0	1	0
chr2	38071251	38071251	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.G1103A:p.R368H	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	0	1399	110	13	0	136	0.0463531	.	.	YES	22778	Anterior_segment_dysgenesis_6|Glaucoma_3A|Glaucoma_3,_primary_infantile,_B|Congenital_ocular_coloboma|Irido-corneo-trabecular_dysgenesis|not_specified|Primary_congenital_glaucoma|Glaucoma,_early-onset,_digenic|not_provided|CYP1B1-related_disorder|Myopathy,_centronuclear,_5|Congenital_glaucoma	MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041|MedGen:C4016760|MedGen:C3661900|MedGen:CN239260|MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186|MONDO:MONDO:0020366,MedGen:C0020302	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.751	.	0.0016	0.00419329	0.0062	0.0004	0.0033	0	0	0.0029	0.0138	0.0294	0.0050646	783	154602	rs79204362	0.0032	0.0032	0.0022	0.0043	0.0311	0.0032	0.0031	0.0302	0.0298	0.0005	0.0021	0.0205	5.038e-05	7.643e-05	0.0236	0.0009	0.0041	0.0311	0.0020	0.0020	0.0016	0.0025	0.0245	0.0018	0.0018	0.0209	0.0195	0.0005	0	0.0012	0.0179	0	0	0.0205	0.0011	0.0047	0.0245	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.050909	0.999999	0.58761	A	3.06	0.86941	M	.	.	.	.	.	.	0.819	0.85132	0.251	0.86759	D	0.577	0.84738	D	9	0.009640098	0.00217	T	.	.	.	.	.	.	.	0.341696514166	0.33777	0.8175150785253305	0.81708	.	.	0.417915016413	0.27551	T	0.59259	0.86824	D	0.0961558	0.63873	D	0.388342	0.91724	D	0.0597581842735867	0.07131	T	0.933807	0.75196	D	0.90570295	0.91898	0.68082505	0.81245	0.8872861	0.90276	0.8142974	0.89175	-9.232	0.69178	D	.	.	0.200	0.42404	B	.;.	.;.	5.330663	0.89461	30	0.99942312783438658	0.99824	0.96543	0.69666	D	AEFDGBCI	0.942825	0.94789	D	0.728153233663213	0.81478	7.531585	0.629670928743175	0.77105	6.615648	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.401104	0.06395	2	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	7.798000	0.84489	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	17.194	0.86768	914	0.21048	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013650	0.005051	0.005435	0.017544	0.050000	0.025862	0.015528	0.026515	0.05	2734.43	48	chr2	38071251	.	C	T	2734.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.59;DP=640;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.031;SOR=0.693	GT:AD:DP:GQ:PL	0/1:119,117:236:99:2746,0,2514	9	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	0.75	27594.1	127	chr2	44320435	.	G	A	27594.1	.	AC=15;AF=0.75;AN=20;BaseQRankSum=-0.136;DP=1195;ExcessHet=0.2065;FS=0.684;InbreedingCoeff=0.2;MLEAC=15;MLEAF=0.75;MQ=59.98;MQRankSum=0;QD=24.77;ReadPosRankSum=-0.074;SOR=0.818	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3363,300,0	1	6	3	0
chr2	48713934	48713934	A	-	intronic	LHCGR;STON1-GTF2A1L	.	.	.	.	8	920	487	107	0	701	0.275876	.	.	.	45133	Gonadotropin-independent_familial_sexual_precocity|not_provided	MONDO:MONDO:0008303,MedGen:C0342549,OMIM:176410,Orphanet:3000|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1143	0.148762	.	.	.	.	.	.	.	.	0.0035252	545	154602	rs111834744	0.1024	0.0983	0.0993	0.1052	0.2237	0.1019	0.1017	0.2130	0.2087	0.1692	0.1756	0.1510	0.1562	0.1144	0.2237	0.0811	0.1200	0.1942	0.1216	0.1219	0.1175	0.1258	0.1888	0.1201	0.1195	0.1786	0.1745	0.1664	0.0209	0.1489	0.1473	0.1324	0.1139	0.2313	0.0830	0.1300	0.1888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3667.53	40	chr2	48713933	.	CA	C	3667.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.194;DP=489;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.44;SOR=0.715	GT:AD:DP:GQ:PL	0/1:37,22:59:99:713,0,1313	6	0	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3970.55	55	chr2	69326243	.	GA	G	3970.55	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.38;DP=430;ExcessHet=2.4664;FS=3.425;InbreedingCoeff=-0.1243;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.264;SOR=0.518	GT:AD:DP:GQ:PL	0/1:14,25:39:99:546,0,236	2	2	6	0
chr2	85549827	85549827	A	C	UTR3	GGCX	NM_001142269:c.*107T>G;NM_000821:c.*107T>G	.	.	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency;Vitamin K-dependent clotting factors, combined deficiency of, 1, Autosomal recessive	227	1139	40	4	112	160	0.0206363	.	.	.	290844	not_provided|Vitamin_K-dependent_clotting_factors,_combined_deficiency_of,_type_1	MedGen:C3661900|MONDO:MONDO:0010187,MedGen:C1848534,OMIM:277450,Orphanet:98434	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028072	434	154602	rs78909830	0.0800	0.0553	0.0805	0.0795	0.0850	0.0786	0.0781	0.0833	0.0825	0.0354	0.0596	0.0948	0.0459	0.1081	0.0708	0.0850	0.0927	0.0605	0.0439	0.0427	0.0431	0.0447	0.0549	0.0430	0.0426	0.0534	0.0527	0.0190	0.0122	0.0449	0.0373	0.0221	0.0837	0.0962	0.0549	0.0553	0.0420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	82.95	8	chr2	85549827	.	A	C	82.95	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=54;ExcessHet=0;FS=0;InbreedingCoeff=0.0398;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=-0.524;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,4:5:26:92,0,26	6	0	1	3
chr2	112010076	112010076	T	-	intronic	MERTK	.	.	.	Retinitis pigmentosa 38, Autosomal recessive	0	1505	16	1	0	18	0.00594452	.	.	.	283765	Retinitis_Pigmentosa,_Recessive|not_provided	MedGen:CN239466|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000998403	0.0008	0	0	0	0	0.0002	0.0011	0.0053	0.0006921	107	154602	rs529766238	0.0004	0.0004	0.0002	0.0006	0.0056	0.0004	0.0004	0.0052	0.0050	3.084e-05	0.0002	0	0	0	0.0018	8.295e-05	0.0005	0.0056	0.0004	0.0004	0.0002	0.0006	0.0064	0.0003	0.0003	0.0046	0.0040	0	0	0.0014	0	0	0	0	0.0001	0	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1623.39	33	chr2	112010075	.	CT	C	1623.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=533;ExcessHet=0;FS=5.965;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.554;SOR=0.899	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1635,0,2015	9	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	.	.	.	.	.	.	.	.	0.8571	751.73	5	chr2	113062899	.	T	C	751.73	.	AC=12;AF=0.857;AN=14;BaseQRankSum=-0.385;DP=30;ExcessHet=0.3476;FS=0;MLEAC=14;MLEAF=1;MQ=60;MQRankSum=0;QD=26.85;ReadPosRankSum=0;SOR=0.638	GT:AD:DP:GQ:PL	1/1:0,4:4:12:133,12,0	0	5	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	.	.	.	.	.	.	.	.	0.9167	545.71	5	chr2	113062953	.	A	G	545.71	.	AC=11;AF=0.917;AN=12;BaseQRankSum=-0.524;DP=25;ExcessHet=0;FS=0;MLEAC=13;MLEAF=1;MQ=60;MQRankSum=0;QD=25.99;ReadPosRankSum=0.524;SOR=0.929	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	0	5	1	4
chr2	113063003	113063003	C	A	UTR3	IL36RN	NM_173170:c.*326C>A;NM_012275:c.*326C>A	.	.	Psoriasis 14, pustular, Autosomal recessive	1153	102	28	239	0	506	0.712676	.	.	.	283612	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.641694	16702	26028	rs2515402	0.6503	0.5392	0.6312	0.6662	0.7952	0.6475	0.6464	0.7882	0.7853	0.7079	0.6852	0.6657	0.7045	0.6007	0.7372	0.5959	0.6436	0.7952	0.6523	0.6524	0.6493	0.6555	0.8017	0.6489	0.6475	0.7806	0.7720	0.7070	0.7582	0.6634	0.6888	0.7075	0.6290	0.7381	0.6006	0.6879	0.8017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	333.61	3	chr2	113063003	.	C	A	333.61	.	AC=10;AF=1;AN=10;DP=19;ExcessHet=0;FS=0;MLEAC=12;MLEAF=1;MQ=60;QD=30.33;SOR=1.27	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	5	0	5
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	.	.	.	.	.	.	.	.	1.0	194.34	1	chr2	113063237	.	C	G	194.34	.	AC=6;AF=1;AN=6;DP=9;ExcessHet=0;FS=0;MLEAC=8;MLEAF=1;MQ=60;QD=27.76;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	3	0	7
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1988.77	59	chr2	151546001	.	T	TA	1988.77	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.321;DP=543;ExcessHet=15.1594;FS=7.134;InbreedingCoeff=-0.8944;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=0.533;SOR=0.421	GT:AD:DP:GQ:PL	0/1:18,11:33:99:121,0,355	0	1	9	0
chr2	166375738	166375738	C	A	UTR5	SCN9A	NM_002977:c.-63982G>T;NM_001365536:c.-63982G>T	.	.	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	881404	Channelopathy-associated_congenital_insensitivity_to_pain,_autosomal_recessive|Primary_erythromelalgia|Paroxysmal_extreme_pain_disorder	MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Orphanet:88642,Orphanet:970|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020,Orphanet:306577,Orphanet:90026|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orphanet:46348	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs569406301	0	6.361e-06	0	0	.	0	0	.	.	0	.	0	.	0	0	0	0	.	6.564e-05	6.561e-05	6.422e-05	6.712e-05	0.0015	3.513e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	33.68	2	chr2	166375738	.	C	A	33.68	.	AC=2;AF=0.1;AN=20;DP=24;ExcessHet=0;FS=0;InbreedingCoeff=0.3598;MLEAC=1;MLEAF=0.05;MQ=60;QD=16.84;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	1	0	0
chr2	178461008	178461008	C	T	exonic	PJVK	.	nonsynonymous SNV	PJVK:NM_001353776:exon6:c.C799T:p.R267C,PJVK:NM_001369912:exon6:c.C793T:p.R265C,PJVK:NM_001042702:exon7:c.C793T:p.R265C,PJVK:NM_001353775:exon7:c.C802T:p.R268C,PJVK:NM_001353777:exon7:c.C316T:p.R106C,PJVK:NM_001353778:exon7:c.C316T:p.R106C	.	0	1161	119	13	229	374	0.0587758	.	.	.	53040	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_59	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012445,MedGen:C1857744,OMIM:610220,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.235	.	0.0631	0.028754	0.0580	0.0119	0.0384	0.0001	0.0753	0.0824	0.0644	0.0231	0.0547923	8471	154602	rs17304212	0.0713	0.0714	0.0724	0.0703	0.0815	0.0710	0.0708	0.0811	0.0809	0.0106	0.0417	0.0512	0.0001	0.0739	0.0531	0.0815	0.0631	0.0233	0.0545	0.0545	0.0555	0.0534	0.0833	0.0535	0.0531	0.0815	0.0807	0.0143	0.0548	0.0524	0.0522	0.0006	0.0745	0.0238	0.0833	0.0501	0.0205	0.005	0.63226	D	0.052	0.47581	T	0.988	0.62325	D	0.679	0.53442	P	0.000358	0.45440	U	0.089808	0.926253	0.36829	D	0.69	0.16971	N	0.17	0.60485	T	-0.67	0.19297	N	0.22	0.24634	-0.9928	0.31880	T	0.016	0.06473	T	10	0.0028128922	0.00044	T	.	.	.	0.235	0.53788	.	.	.	.	0.4432695074346097	0.44244	0.502497821918	0.48607	0.325919628143	0.14317	T	0.070157	0.33889	T	-0.503671	0.00545	T	-0.434577	0.29416	T	0.0152478500945219	0.00335	T	0.827017	0.49049	T	0.107861176	0.25505	0.054622885	0.09429	0.107148804	0.25336	0.06746118	0.13960	-4.784	0.34404	T	0.27187868743608723	0.36562	0.122	0.37293	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.073661	0.84639	28.4	0.99891420028298228	0.96513	0.96357	0.68743	D	AEFI	0.573929	0.57692	D	0.488531693280481	0.66418	4.94768	0.560315800465855	0.72118	5.759705	0.978132306747711	0.29890	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.664235	0.64389	0	.	.	6.04	6.04	0.98025	2.203000	0.42387	.	.	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.2446:0.7554:0.0:0.0	14.394	0.66568	320	0.86992	.;.;.;.;.;.;.;.	FKBP7|FKBP7|FKBP7|PLEKHA3|FKBP7|RBM45|DFNB59	Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Kidney_Cortex|Testis	DFNB59	Testis	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1126.43	38	chr2	178461008	.	C	T	1126.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=484;ExcessHet=0;FS=0.687;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=1.4;SOR=0.829	GT:AD:DP:GQ:PL	0/1:77,49:126:99:1138,0,1800	9	0	1	0
chr2	178531672	178531672	T	C	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon186:c.A77748G:p.E25916E,TTN:NM_133432:exon187:c.A78123G:p.E26041E,TTN:NM_133437:exon187:c.A78324G:p.E26108E,TTN:NM_133378:exon307:c.A97239G:p.E32413E,TTN:NM_001256850:exon308:c.A100020G:p.E33340E,TTN:NM_001267550:exon358:c.A104943G:p.E34981E	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	1519	3	0	0	3	0.000986518	.	.	YES	250413	Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Cardiomyopathy|not_provided	MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	8.2e-05	.	8.282e-05	0.0001	0	0	0	7.492e-05	0	0.0002	9.06e-05	14	154602	rs372312805	0.0001	0.0001	0.0001	0.0001	0.0043	0.0001	0.0001	0.0030	0.0026	0	0	0	0	0	0.0043	0.0001	0.0002	0.0003	9.196e-05	9.187e-05	0.0001	8.06e-05	0.0002	5.526e-05	4.363e-05	9.05e-05	7.013e-05	2.408e-05	0	0	0	0	0	0.0068	0.0002	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	0.001511	0.005051	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	1446.43	123	chr2	178531672	.	T	C	1446.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=874;ExcessHet=0;FS=2.141;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=2.32;SOR=0.659	GT:AD:DP:GQ:PL	0/1:83,58:141:99:1458,0,2137	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	351.75	17	chr2	178698916	.	TA	T	351.75	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.524;DP=187;ExcessHet=4.5998;FS=5.25;InbreedingCoeff=-0.3841;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=1.59;SOR=0.252	GT:AD:DP:GQ:PL	0/1:10,6:16:92:92,0,200	6	0	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1898.74	33	chr2	188994708	.	CT	C	1898.74	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-1.058;DP=537;ExcessHet=1.5895;FS=2.631;InbreedingCoeff=-0.2554;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.678;SOR=0.545	GT:AD:DP:GQ:PL	0/1:16,19:37:99:438,0,318	6	0	4	0
chr2	227104056	227104056	A	-	intronic	COL4A4	.	.	.	Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, familial benign (3)	5	1455	55	0	7	62	0.0185497	.	.	.	920171	Alport_syndrome|not_provided|Benign_familial_hematuria|COL4A4-related_disorder	MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63|MedGen:C3661900|MONDO:MONDO:0957317,MedGen:C0241908,OMIM:PS141200|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0276	0.0198	0.0330	0.0220	0.0066	0.0292	0.0288	0.0353	0.0247409	3825	154602	rs750699545	0.0048	0.0423	0.0049	0.0047	0.0068	0.0047	0.0046	0.0063	0.0061	0.0051	0.0060	0.0031	0.0017	0.0051	0.0037	0.0047	0.0047	0.0068	0.0002	0.0008	0.0002	0.0002	0.0002	0.0001	0.0001	8.154e-05	6.155e-05	0.0002	0	0.0001	0	0.0002	0.0006	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	43.11	33	chr2	227104055	.	TA	T	43.11	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.762;DP=233;ExcessHet=0.2348;FS=1.848;InbreedingCoeff=-0.1094;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.66;SOR=0.283	GT:AD:DP:GQ:PL	0/1:12,2:14:15:15,0,301	8	0	2	0
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	9348.98	130	chr2	233681881	.	T	G	9348.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.043;DP=816;ExcessHet=1.0516;FS=0.549;InbreedingCoeff=-0.0101;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=0.409;SOR=0.734	GT:AD:DP:GQ:PL	0/1:43,32:75:99:725,0,1248	3	2	5	0
chr2	240014869	240014869	T	C	intronic	NDUFA10	.	.	.	Leigh syndrome, Autosomal recessive, Mitochondrial	0	1516	5	1	0	7	0.00230339	0.0001	0	.	142139	not_provided|Leigh_syndrome|Mitochondrial_complex_I_deficiency,_nuclear_type_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0020	0.00199681	0.0016	0.0007	0.0019	0	0	0.0023	0.0033	0.0008	0.0016817	260	154602	rs147876332	0.0024	0.0024	0.0024	0.0024	0.0028	0.0023	0.0023	0.0027	0.0027	0.0005	0.0018	0.0015	2.519e-05	9.362e-05	0.0019	0.0028	0.0024	0.0013	0.0017	0.0017	0.0018	0.0016	0.0028	0.0015	0.0015	0.0025	0.0024	0.0005	0.0011	0.0018	0.0014	0	0.0002	0.0034	0.0028	0.0009	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	695.43	40	chr2	240014869	.	T	C	695.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=435;ExcessHet=0;FS=0.922;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.563;SOR=0.904	GT:AD:DP:GQ:PL	0/1:48,29:77:99:707,0,1179	9	0	1	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA,EOMES:NM_005442:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	335	305	451	409	22	1291	0.675359	.	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3510.5	15	chr3	27721936	.	G	GCGGCGC	3510.5	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.784;DP=173;ExcessHet=2.8549;FS=2.214;InbreedingCoeff=-0.2501;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.88;ReadPosRankSum=-0.411;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,8:16:99:.:.:271,0,292:.	2	2	6	0
chr3	46370444	46370444	A	G	ncRNA_intronic	CCR5AS	.	.	.	.	1383	82	5	52	0	109	0.399267	.	.	YES	23228	Susceptibility_to_HIV_infection|CCR5_PROMOTER_POLYMORPHISM|Acquired_immunodeficiency_syndrome,_delayed_progression_to|CCR5-related_disorder	MONDO:MONDO:0004951,MedGen:C1836230,OMIM:609423|.|MedGen:C4016730|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	.	.	.	0.548522	.	.	.	.	.	.	.	.	0.47349	12324	26028	rs1799987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4914	0.4919	0.4870	0.4959	0.6116	0.4884	0.4872	0.5932	0.5857	0.5707	0.4659	0.4602	0.4439	0.5883	0.4602	0.5685	0.4413	0.4920	0.6116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	189.37	2	chr3	46370444	.	A	G	189.37	.	AC=6;AF=0.75;AN=8;DP=8;ExcessHet=0;FS=0;MLEAC=8;MLEAF=1;MQ=60;QD=27.05;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,3:3:9:91,9,0	1	3	0	6
chr3	46858411	46858411	C	T	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon5:c.G532A:p.D178N	Cardiomyopathy, hypertrophic, 8	0	1520	2	0	0	2	0.000657462	.	.	.	52298	Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_8|Hypertrophic_cardiomyopathy|Cardiomyopathy|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.709	0.2201771311	7.7e-05	0.000399361	0.0003	0	8.643e-05	0	0	8.997e-05	0	0.0015	0.0002264	35	154602	rs145520567	0.0001	0.0001	5.99e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0	0	0	0	0.0005	2.518e-05	0.0002	0.0016	8.537e-05	8.531e-05	7.711e-05	9.4e-05	0.0021	4.954e-05	3.96e-05	0.0011	0.0009	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0021	0.011	0.55530	D	0.051	0.47828	T	0.983	0.60381	D	0.483	0.47159	P	0.000001	0.62929	D	0.000000	1	0.81001	D	2.57	0.75187	M	-1.52	0.81478	D	-4.26	0.76174	D	0.853	0.84922	0.261	0.86929	D	0.533	0.82714	D	10	0.3612776	0.52752	T	0.220177	0.87744	D	0.709	0.89605	.	.	0.869866588769	0.86860	0.6067735504588467	0.60608	0.924009153585	0.71568	0.776091217995	0.78339	T	0.74897	0.93106	D	-0.252559	0.13787	T	-0.170938	0.57358	T	0.431182354688644	0.30104	T	0.951105	0.81346	D	0.6151212	0.73502	0.4172226	0.65783	0.6151212	0.73503	0.4172226	0.65783	-11.386	0.81732	D	0.5976635823013203	0.66457	0.763	0.75617	P	.;.	.;.	4.909294	0.80764	27.4	0.99914874074217275	0.98309	0.98825	0.87349	D	AEFBI	0.975985	0.99649	D	0.612990837167797	0.73993	6.058093	0.560821823494333	0.72152	5.765209	0.999999999750409	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	3.77	3.77	0.42499	7.722000	0.83741	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.478	0.60772	140	0.94439	EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1240.43	37	chr3	46858411	.	C	T	1240.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=441;ExcessHet=0;FS=1.555;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=2.18;SOR=0.892	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1252,0,1423	9	0	1	0
chr3	52291039	52291039	C	T	exonic	GLYCTK	.	nonsynonymous SNV	GLYCTK:NM_001144951:exon3:c.C457T:p.R153W,GLYCTK:NM_145262:exon3:c.C457T:p.R153W	D-glyceric aciduria, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	513540	not_provided|D-Glyceric_aciduria	MedGen:C3661900|MONDO:MONDO:0009070,MedGen:C0342765,OMIM:220120,Orphanet:941	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.222	0.0537849602426	.	0.000998403	0.0008	0	0.0003	0	0	9.05e-05	0	0.0054	0.000705	109	154602	rs199906865	0.0004	0.0004	0.0002	0.0007	0.0063	0.0004	0.0004	0.0059	0.0057	8.961e-05	0.0003	0	2.519e-05	0	0.0007	3.237e-05	0.0004	0.0063	0.0002	0.0002	0.0001	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	2.406e-05	0	0.0002	0	0	0	0	0.0001	0.0009	0.0037	0.004	0.68238	D	0.014	0.69154	D	1.0	0.90584	D	0.967	0.71530	D	0.012929	0.29007	N	0.369705	0.799269	0.34489	D	2.37	0.68279	M	0.84	0.47477	T	-3.16	0.67359	D	0.556	0.65074	-0.4854	0.69173	T	0.249	0.61797	T	10	0.015844643	0.00333	T	0.053785	0.65605	D	0.222	0.51872	.	.	0.780631358594	0.77861	0.6017188784880549	0.60102	0.466306968941	0.46040	0.454500436783	0.32559	T	0.306036	0.67826	T	-0.377627	0.03224	T	-0.312877	0.43348	T	0.11398430062026	0.13831	T	0.973703	0.90499	D	0.23978326	0.46873	0.27480632	0.53412	0.3116373	0.53928	0.30581847	0.56607	-7.351	0.63765	T	0.4441635810553473	0.52914	0.171	0.42934	B	.;.;.;.;.;.	.;.;.;.;.;.	3.678371	0.52339	23.2	0.99822702653012096	0.90502	0.68984	0.34010	D	AEFDBCI	0.761068	0.69889	D	-0.002109385934802	0.41759	2.503677	-0.134716402862437	0.34003	1.951055	0.999986759455386	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.12	3.24	0.36257	1.095000	0.30575	1.520000	0.27085	-0.180000	0.10397	1.000000	0.71638	0.842000	0.27309	0.002000	0.04165	0.5211:0.3649:0.114:0.0	9.381	0.37476	86	0.96395	MOFRL-associated domain;.;.;MOFRL-associated domain;MOFRL-associated 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1082.43	33	chr3	52291039	.	C	T	1082.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=460;ExcessHet=0;FS=0.697;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.417;SOR=0.607	GT:AD:DP:GQ:PL	0/1:73,47:120:99:1094,0,1679	9	0	1	0
chr3	128813605	128813605	A	G	UTR3	RAB7A	NM_004637:c.*183A>G	.	.	Charcot-Marie-Tooth disease, type 2B, Autosomal dominant	270	1019	118	16	99	249	0.0685558	.	.	.	292532	Charcot-Marie-Tooth_disease_type_2B|not_provided	MONDO:MONDO:0010949,MedGen:C1833219,OMIM:600882,Orphanet:99936|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032273	84	26028	rs774054837	0.0632	0.0495	0.0625	0.0639	0.1123	0.0625	0.0622	0.1022	0.0983	0.0134	0.0332	0.0802	0.0007	0.0519	0.1123	0.0751	0.0637	0.0593	0.0339	0.0338	0.0344	0.0333	0.0513	0.0331	0.0328	0.0499	0.0493	0.0087	0.0275	0.0295	0.0527	0.0004	0.0314	0.0586	0.0513	0.0359	0.0433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	145.34	3	chr3	128813605	.	A	G	145.34	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.45;DP=51;ExcessHet=0;FS=9.622;InbreedingCoeff=0.4557;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0;SOR=4.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,4:8:99:0|1:128813603_G_A:156,0,156:128813603	9	0	1	0
chr3	149212616	149212616	C	G	exonic	CP	.	nonsynonymous SNV	CP:NM_000096:exon2:c.G229C:p.D77H	Cerebellar ataxia, Autosomal recessive;Hemosiderosis, systemic, due to aceruloplasminemia, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	51216	not_specified|Deficiency_of_ferroxidase	MedGen:CN169374|Human_Phenotype_Ontology:HP:0025498,MONDO:MONDO:0011426,MedGen:C0878682,OMIM:604290,Orphanet:48818	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.897	0.186454501028	.	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001358	21	154602	rs200683433	6.841e-05	6.84e-05	3.948e-05	9.764e-05	0.0007	5.713e-05	5.326e-05	0.0005	0.0005	0	4.472e-05	0	0	0	0	3.328e-05	4.968e-05	0.0007	3.94e-05	3.937e-05	3.854e-05	4.029e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0.0005	0.0002	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000031	0.55875	D	0.157878	0.999968	0.52935	D	.	.	.	-5.64	0.99249	D	-5.77	0.92648	D	0.869	0.86618	1.075	0.98733	D	0.980	0.99372	D	10	0.93161064	0.92498	D	0.186455	0.85876	D	0.897	0.97097	.	.	0.964204897991	0.96382	0.9528067750625184	0.95264	0.516374766168	0.49524	0.370301783085	0.20875	T	.	.	.	0.163883	0.70560	D	0.373476	0.91198	D	0.820427298545837	0.47804	D	0.966603	0.87805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.80930	A	.;.	.;.	3.716501	0.53084	23.3	0.99526622926848329	0.69591	0.96976	0.71977	D	AEFDGBI	0.801501	0.72719	D	0.649702787519299	0.76351	6.47019	0.557956239683852	0.71954	5.733961	0.999997656337371	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.42	4.55	0.55429	1.099000	0.30625	2.272000	0.31837	0.599000	0.40250	0.244000	0.24789	0.981000	0.30433	0.996000	0.76049	0.0:0.841:0.0:0.159	11.177	0.47832	900	0.24599	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	760.43	33	chr3	149212616	.	C	G	760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.742;DP=361;ExcessHet=0;FS=2.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=1.29;SOR=0.317	GT:AD:DP:GQ:PL	0/1:18,30:48:99:772,0,472	9	0	1	0
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2688.25	45	chr3	160258644	.	G	GA	2688.25	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.896;DP=449;ExcessHet=1.4371;FS=3.237;InbreedingCoeff=-0.0989;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.137;SOR=0.501	GT:AD:DP:GQ:PL	0/1:17,13:32:99:270,0,407	4	1	5	0
chr4	3074876	3074876	-	CAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.51_52insCAG:p.Q38_P39insQ	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1291917	not_specified|Huntington_disease	MedGen:CN169374|MONDO:MONDO:0007739,MedGen:C0020179,OMIM:143100,Orphanet:248111,Orphanet:399	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0520	0.0070	0.0349	0.0263	0	0.0594	0.1154	0.0528	0.0036481	564	154602	rs763773724	0.0597	0.0577	0.0595	0.0599	0.0625	0.0593	0.0592	0.0621	0.0619	0.0417	0.0427	0.0825	0.0229	0.0498	0.0559	0.0625	0.0579	0.0494	0.0586	0.0582	0.0608	0.0562	0.0688	0.0575	0.0571	0.0671	0.0664	0.0492	0.0063	0.0523	0.0878	0.0245	0.0515	0.0476	0.0688	0.0551	0.0433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	8607.13	49	chr4	3074876	.	C	CCAG	8607.13	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.968;DP=656;ExcessHet=0;FS=6.476;InbreedingCoeff=0.7229;MLEAC=2;MLEAF=0.1;MQ=59.93;MQRankSum=0;QD=28.32;ReadPosRankSum=1.04;SOR=1.294	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,11:11:32:.:.:396,32,0:.	9	1	0	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	7232.84	98	chr4	5628743	.	T	TAA	7232.84	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.111;DP=796;ExcessHet=2.8549;FS=1.942;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.531;SOR=0.869	GT:AD:DP:GQ:PL	0/1:37,34:71:99:981,0,1152	9	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	0.6	45238.0	229	chr4	6300980	.	C	T	45238.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=-1.734;DP=2513;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.25;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=20.08;ReadPosRankSum=0.358;SOR=0.66	GT:AD:DP:GQ:PL	0/1:96,125:221:99:3207,0,2699	1	3	6	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	0.75	46735.1	192	chr4	6301295	.	C	T	46735.1	.	AC=15;AF=0.75;AN=20;BaseQRankSum=1.34;DP=2085;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=15;MLEAF=0.75;MQ=60;MQRankSum=0;QD=22.8;ReadPosRankSum=0.275;SOR=0.65	GT:AD:DP:GQ:PL	1/1:0,187:187:99:5877,561,0	0	5	5	0
chr4	38797027	38797027	C	A	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.G1805T:p.S602I	.	433	95	396	598	0	1592	0.893378	.	.	.	23399	Leprosy,_susceptibility_to,_1|Leprosy,_protection_against|TLR1-related_disorder	MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548|MedGen:C2750734|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	0.056	.	0.4786	0.800519	0.5389	0.8744	0.7912	0.9899	0.1358	0.3358	0.5330	0.8978	0.490919	75897	154602	rs5743618	0.3478	0.3478	0.3322	0.3635	0.9891	0.3470	0.3467	0.9809	0.9775	0.8882	0.7620	0.5248	0.9891	0.1455	0.7954	0.2484	0.4321	0.8925	0.5230	0.5233	0.5155	0.5310	0.9882	0.5200	0.5187	0.9656	0.9564	0.8680	0.3374	0.6795	0.5378	0.9882	0.1309	0.7857	0.2742	0.5970	0.9061	1.0	0.00964	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.223979	0.03474	N	1.586730	1	0.08975	P	-2.455	0.00064	N	4.65	0.01779	T	2.33	0.00281	N	0.015	0.00203	-0.9814	0.34678	T	0.000	0.00011	T	9	1.5470836e-06	0.00003	T	.	.	.	0.056	0.15993	.	.	.	.	0.194904177424025	0.19408	0.0725892304128	0.08138	0.27531477809	0.06848	T	0.049442	0.28307	T	-0.808969	0.00007	T	-0.790984	0.02138	T	0.00365530579536446	0.00039	T	0.0535946	0.00383	T	0.052709427	0.09870	0.056038916	0.09939	0.052709427	0.09870	0.056038916	0.09939	1.962	0.00053	T	.	.	0.056	0.00496	B	.;.	.;.	0.550795	0.09195	5.976	0.10915785735844558	0.00150	0.04174	0.09671	N	AEFGBCI	0.072195	0.14400	N	-1.36048708973054	0.03017	0.134138	-1.14431403439413	0.06871	0.3322031	0.970372123348399	0.29203	0.631515	0.41029	0	0.697927	0.68747	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.43	2.76	0.31527	0.245000	0.17917	0.357000	0.17536	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4839:0.3908:0.0:0.1253	8.482	0.32208	653	0.62661	.;.	FAM114A1|FAM114A1|TLR6|TLR10|TLR1|TLR6|TLR1|TLR1|FAM114A1|TLR1|TLR1|FAM114A1|TLR6|TLR6|FAM114A1|TLR1|FAM114A1|FAM114A1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood	TLR1|TLR1|TLR10|TLR1|TLR1|TLR1|TLR1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Spleen|Whole_Blood	chr4:38798648	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.802115	0.868687	0.845109	0.918129	0.550000	0.758621	0.542683	0.757576	0.95	60600.1	212	chr4	38797027	.	C	A	60600.1	.	AC=19;AF=0.95;AN=20;BaseQRankSum=0.62;DP=2058;ExcessHet=0;FS=1.208;InbreedingCoeff=-0.0526;MLEAC=19;MLEAF=0.95;MQ=53.04;MQRankSum=-9.219;QD=30.19;ReadPosRankSum=-0.483;SOR=0.854	GT:AD:DP:GQ:PL	1/1:0,156:156:99:4953,468,0	0	9	1	0
chr4	154586438	154586438	T	C	exonic	FGA	.	nonsynonymous SNV	FGA:NM_000508:exon5:c.A991G:p.T331A,FGA:NM_021871:exon5:c.A991G:p.T331A	Afibrinogenemia, congenital, Autosomal recessive;Amyloidosis, familial visceral, Autosomal dominant;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia, congenital	28	792	564	118	20	820	0.33557	.	.	.	31459	not_specified|Venous_thromboembolism,_susceptibility_to|Congenital_afibrinogenemia|Familial_visceral_amyloidosis,_Ostertag_type|not_provided	MedGen:CN169374|MedGen:C1858965|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880|MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.092	.	0.2899	0.327077	0.2872	0.3752	0.2388	0.4541	0.3066	0.2510	0.2841	0.3173	0.279718	43245	154602	rs6050	0.2660	0.2660	0.2650	0.2670	0.4674	0.2653	0.2650	0.4618	0.4595	0.3629	0.2417	0.1859	0.4674	0.3153	0.2183	0.2525	0.2547	0.3265	0.2938	0.2939	0.2929	0.2947	0.4451	0.2915	0.2906	0.4299	0.4237	0.3634	0.2572	0.2478	0.1818	0.4451	0.3124	0.2041	0.2543	0.2578	0.3042	0.471	0.11406	T	0.831	0.08052	T	0.025	0.19245	B	0.008	0.13708	B	0.019120	0.01504	N	3.217810	1	0.08975	P	0.12	0.08593	N	-0.53	0.70833	T	-1.1	0.28497	N	0.017	0.00527	-1.0206	0.23519	T	0.000	0.00011	T	9	0.0003001392	0.00010	T	.	.	.	0.092	0.26621	.	.	.	.	0.18455593357657205	0.18373	0.0582763209917	0.06453	0.271667361259	0.06360	T	0.196286	0.55263	T	-0.68717	0.00043	T	-0.616028	0.11501	T	0.00908341073136414	0.00114	T	0.483152	0.14651	T	0.021154398	0.00703	0.027020706	0.00826	0.024007758	0.01191	0.03657319	0.03131	-5.133	0.38253	T	.	.	0.070	0.03625	B	.;.	.;.	-1.623381	0.00229	0.003	0.5951060700015256	0.06241	0.00697	0.02968	N	AEFBHCI	0.231798	0.35497	N	-1.69680907988312	0.00853	0.03690796	-1.74153389084326	0.00965	0.04324642	0.999998855499622	0.74766	0.594549	0.33734	0	0.573888	0.26702	0	0.573888	0.23631	0	0.836244	0.99985	0	.	.	4.95	-6.65	0.01630	-7.952000	0.00035	-20.000000	0.00162	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4201:0.2848:0.1048:0.1903	1.170	0.01712	798	0.45050	.;.	TLR2|DCHS2|PLRG1|FGG	Artery_Tibial|Brain_Cortex|Esophagus_Mucosa|Lung	.	.	.	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	0.252266	0.207071	0.221467	0.277778	0.250000	0.250000	0.253049	0.310606	0.3	14268.0	35	chr4	154586438	.	T	C	14268.0	.	AC=6;AF=0.3;AN=20;BaseQRankSum=2.02;DP=1275;ExcessHet=4.5998;FS=1.72;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.406;SOR=0.743	GT:AD:DP:GQ:PL	0/1:85,89:174:99:2230,0,2122	4	0	6	0
chr5	13721028	13721028	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon71:c.G12251A:p.R4084Q	Ciliary dyskinesia, primary, 3, with or without situs inversus	1	1519	2	0	0	2	0.000657895	.	.	.	221596	Infertility_disorder|Primary_ciliary_dyskinesia_3|Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.291	0.0601748669562	0.0002	0.000399361	7.418e-05	0	0	0	0	0.0001	0	6.057e-05	8.41e-05	13	154602	rs140832239	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	8.944e-05	0	7.559e-05	1.872e-05	0	0.0002	0.0001	5.797e-05	0.0001	0.0001	5.141e-05	0.0002	0.0002	6.509e-05	5.321e-05	0.0001	8.878e-05	2.408e-05	0	0.0001	0	0	0	0	0.0002	0	0	0.002	0.72154	D	.	.	.	0.995	0.67487	D	0.934	0.66904	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.17	0.60663	M	3.1	0.08283	T	-3.91	0.73042	D	0.538	0.56576	-1.1414	0.01307	T	0.061	0.25310	T	10	0.4306407	0.57467	T	0.060175	0.67912	D	0.291	0.61040	.	.	0.431035450679	0.42721	0.6519883597301571	0.65134	0.304278428197	0.32738	0.498256921768	0.38585	T	0.279173	0.65184	T	-0.319026	0.06977	T	-0.426735	0.30306	T	0.629540503025055	0.37599	D	0.952605	0.81930	D	0.7459842	0.80636	0.66358155	0.80279	0.7459842	0.80637	0.66358155	0.80280	-8.662	0.65497	D	0.6701819666773238	0.74501	0.343	0.56118	A	.	.	3.864491	0.56067	23.7	0.99901546570077426	0.97350	0.98474	0.83158	D	AEFI	0.661117	0.63145	D	0.274142127660098	0.54840	3.648896	0.17796726010219	0.48642	3.077399	0.999855726135282	0.44174	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.18	4.31	0.50718	6.033000	0.70569	5.983000	0.52202	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.9279:0.0:0.0721	14.311	0.65969	804	0.43891	Dynein heavy chain 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	.	.	.	.	.	.	.	.	0.05	1398.43	33	chr5	13721028	.	C	T	1398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.093;DP=434;ExcessHet=0;FS=2.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.658;SOR=0.466	GT:AD:DP:GQ:PL	0/1:55,59:114:99:1410,0,1315	9	0	1	0
chr5	13886136	13886138	AAA	-	intronic	DNAH5	.	.	.	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	.	295553	Primary_ciliary_dyskinesia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1980	0.1530	0.2345	0.0616	0.3012	0.2362	0.2935	0.0933	0.0001229	19	154602	rs201639682	0.2197	0.2090	0.2202	0.2191	0.2636	0.2189	0.2187	0.2584	0.2562	0.1733	0.2636	0.2290	0.0664	0.2132	0.2468	0.2261	0.2174	0.2025	0.2129	0.2043	0.2115	0.2145	0.2821	0.2108	0.2099	0.2742	0.2710	0.1491	0.2864	0.2821	0.2820	0.0620	0.2497	0.2924	0.2356	0.2207	0.2146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3793.86	25	chr5	13886135	.	CAAA	C	3793.86	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.075;DP=338;ExcessHet=0.2348;FS=1.041;InbreedingCoeff=-0.1111;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=22.72;ReadPosRankSum=0.503;SOR=0.563	GT:AD:DP:GQ:PL	1/0:1,7:15:35:400,79,86	3	0	7	0
chr5	90720066	90720066	A	G	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon44:c.A9466G:p.I3156V	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1519	3	0	0	3	0.000986518	.	.	.	55570	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	0.0652648251678	.	0.000599042	0.0004	0	0.0003	0	0	8.993e-05	0	0.0021	0.0003105	48	154602	rs372484022	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0.0002	0	2.521e-05	0	0.0014	2.069e-05	8.283e-05	0.0021	0.0001	0.0001	0.0002	0.0001	0.0023	9.734e-05	8.25e-05	0.0013	0.0010	2.404e-05	0	0.0005	0	0	0	0	2.94e-05	0.0005	0.0023	0.536	0.06891	T	0.26	0.23029	T	0.274	0.31856	B	0.056	0.26147	B	0.000091	0.51296	N	0.231325	0.936413	0.37155	D	.	.	.	1.63	0.28002	T	-0.17	0.09627	N	0.244	0.27554	-1.0865	0.06138	T	0.051	0.21689	T	10	0.0058565736	0.00131	T	0.065265	0.69526	D	0.035	0.08770	0.327	0.31034	0.238705975628	0.23479	0.22840618481394767	0.22755	0.124164387762	0.13980	0.30004876852	0.10408	T	0.046484	0.27437	T	-0.623443	0.00105	T	-0.675573	0.07256	T	0.0353833192621927	0.02873	T	0.59644	0.22167	T	0.034888167	0.04001	0.046645217	0.06548	0.03459016	0.03909	0.033438392	0.02239	-4.064	0.24757	T	.	.	0.074	0.05188	B	.;.	.;.	0.852493	0.12249	8.790	0.91320093928617307	0.20581	0.19504	0.20686	N	AEFBI	0.141647	0.26388	N	-0.556718231796892	0.20274	1.067548	-0.48020973165842	0.22699	1.234227	2.12360943132869E-4	0.05997	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.65	1.86	0.24489	0.088000	0.14821	-0.811000	0.07334	-0.041000	0.17446	0.032000	0.20554	0.000000	0.08366	0.993000	0.69303	0.8019:0.0:0.1981:0.0	9.695	0.39315	606	0.67383	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	745.43	40	chr5	90720066	.	A	G	745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.24;DP=434;ExcessHet=0;FS=1.704;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=0.608;SOR=0.615	GT:AD:DP:GQ:PL	0/1:63,35:98:99:757,0,1429	9	0	1	0
chr5	141526028	141526028	C	T	intronic	DIAPH1	.	.	.	Deafness, autosomal dominant 1, Autosomal dominant;Seizures, cortical blindness, microcephaly syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1115597	DIAPH1-related_disorder|not_provided|not_specified|Progressive_microcephaly-seizures-cortical_blindness-developmental_delay_syndrome|Autosomal_dominant_nonsyndromic_hearing_loss_1	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014714,MedGen:C5567650,OMIM:616632,Orphanet:477814|MONDO:MONDO:0007424,MedGen:C1852282,OMIM:124900,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	0.000599042	0.0001	0.0013	8.639e-05	0	0	0	0	0	0.0001164	18	154602	rs200327015	5.2e-05	5.199e-05	5.854e-05	4.538e-05	0.0016	4.259e-05	3.888e-05	0.0012	0.0011	0.0016	6.708e-05	0	0	0	0.0014	1.799e-06	0.0002	0	0.0004	0.0004	0.0003	0.0004	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0001	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1326.43	37	chr5	141526028	.	C	T	1326.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.731;DP=398;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=-0.671;SOR=0.475	GT:AD:DP:GQ:PL	0/1:33,56:89:99:1338,0,751	9	0	1	0
chr5	146114228	146114228	C	T	exonic	LARS1	.	nonsynonymous SNV	LARS1:NM_001317964:exon31:c.G3271A:p.E1091K,LARS1:NM_001317965:exon31:c.G3247A:p.E1083K,LARS1:NM_016460:exon31:c.G3328A:p.E1110K,LARS1:NM_020117:exon32:c.G3409A:p.E1137K	.	437	1082	3	0	0	3	0.0013844	.	.	.	368239	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.045	0.0207254352849	7.7e-05	0.000199681	0.0001	0	8.64e-05	0	0	4.497e-05	0	0.0007	0.00011	17	154602	rs201386463	9.304e-05	9.371e-05	5.037e-05	0.0001	0.0008	8.025e-05	7.518e-05	0.0006	0.0006	5.974e-05	0	0	0	0	0	5.756e-05	3.312e-05	0.0008	0.0001	0.0001	0.0001	0.0001	0.0006	8.179e-05	6.733e-05	0.0002	9.904e-05	4.825e-05	0	0	0	0	0	0	0.0002	0	0.0006	0.328	0.13219	T	0.239	0.32249	T	0.005	0.12996	B	0.004	0.10090	B	0.013832	0.28718	N	0.404147	0.983937	0.40078	D	1.95	0.52479	M	-0.04	0.63240	T	-0.8	0.22078	N	0.249	0.32148	-0.7613	0.57334	T	0.188	0.53827	T	10	0.0733954	0.11083	T	0.020725	0.43381	T	0.045	0.12272	.	.	0.579527763308	0.57622	0.4832008114554515	0.48240	0.248207255185	0.27377	0.382381260395	0.22594	T	0.006611	0.06037	T	-0.348428	0.04826	T	-0.351256	0.39062	T	0.0489223454828262	0.05310	T	0.951005	0.81346	D	0.110197194	0.26050	0.097768046	0.23283	0.11858892	0.27938	0.11044969	0.26631	-3.222	0.12751	T	.	.	0.103	0.20896	B	.;.;.	.;.;.	3.425855	0.47591	22.5	0.99396205135691418	0.62565	0.95521	0.65052	D	AEFBI	0.375264	0.45986	N	-0.0146158910385933	0.41194	2.459677	0.0984352108504159	0.44470	2.728169	0.903914506169902	0.26165	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.5	4.63	0.57175	4.715000	0.61600	4.855000	0.45413	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.0:0.9238:0.0:0.0762	13.395	0.60291	855	0.34697	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1458.43	33	chr5	146114228	.	C	T	1458.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=428;ExcessHet=0;FS=7.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=2.4;SOR=1.408	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1470,0,1042	9	0	1	0
chr5	177093242	177093242	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_001354984:exon9:c.G1162A:p.G388R,FGFR4:NM_002011:exon9:c.G1162A:p.G388R,FGFR4:NM_213647:exon9:c.G1162A:p.G388R	.	415	588	404	115	0	634	0.350276	.	.	.	31365	Cancer_progression_and_tumor_cell_motility|See_cases|FGFR4-related_disorder|not_specified	MedGen:C4016099|.|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	.	0.2423	0.299521	0.3210	0.1323	0.4337	0.4495	0.3358	0.3029	0.3112	0.3580	0.309718	47883	154602	rs351855	0.3062	0.3062	0.3051	0.3073	0.4369	0.3054	0.3051	0.4315	0.4292	0.1286	0.4070	0.3161	0.4369	0.3292	0.2908	0.2980	0.3088	0.3500	0.2682	0.2685	0.2646	0.2721	0.4490	0.2660	0.2651	0.4337	0.4275	0.1329	0.2719	0.3301	0.3207	0.4490	0.3254	0.2245	0.3048	0.2718	0.3663	0.12	0.27904	T	0.358	0.17064	T	0.998	0.73220	D	0.7	0.54153	P	0.005687	0.32589	N	0.316526	0.0177303	0.81001	P	1.5	0.37844	L	-1.67	0.82806	D	-0.16	0.09460	N	0.469	0.50508	-0.8840	0.49440	T	0.000	0.00011	T	9	0.0041104257	0.00081	T	.	.	.	0.519	0.79522	0.255	0.19533	.	.	0.7522868110974598	0.75175	0.827512574282	0.67481	0.476968705654	0.35640	T	0.259171	0.63041	T	-0.237093	0.15723	T	0.0304758	0.72308	D	0.0179416488997758	0.00520	T	0.631737	0.24648	T	0.10127284	0.23920	0.10703784	0.25763	0.10127284	0.23920	0.1078294	0.25965	-4.362	0.29037	T	.	.	0.313	0.60805	B	.;.	.;.	4.760676	0.76968	26.6	0.99879957222399041	0.95653	0.97395	0.74477	D	AEFDGBCI	0.850981	0.76783	D	0.164708132140378	0.49509	3.150608	0.211651071616305	0.50492	3.240753	0.999999535481989	0.74766	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	4.29	4.29	0.50359	6.850000	0.75217	6.632000	0.56155	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0906:0.0:0.9094:0.0	11.212	0.48035	835	0.38313	.;.	FGFR4|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|RGS14|PRELID1|FGFR4|RGS14|FGFR4|RGS14|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|UIMC1|RGS14|FGFR4|FGFR4|PRELID1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood	.	.	rs351855	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.283988	0.252525	0.250000	0.336257	0.400000	0.275862	0.240854	0.363636	0.35	10584.9	92	chr5	177093242	.	G	A	10584.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=2.77;DP=678;ExcessHet=0.0952;FS=1.219;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=22.38;ReadPosRankSum=-1.087;SOR=0.826	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3237,288,0	5	2	3	0
chr5	179833613	179833613	A	G	exonic	SQSTM1	.	synonymous SNV	SQSTM1:NM_003900:exon7:c.A996G:p.S332S,SQSTM1:NM_001142298:exon8:c.A744G:p.S248S,SQSTM1:NM_001142299:exon8:c.A744G:p.S248S	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Autosomal dominant;Myopathy, distal, with rimmed vacuoles, Autosomal dominant;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, Autosomal recessive;Paget disease of bone 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	440880	Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_1|Paget_disease_of_bone_2,_early-onset|not_specified|Paget_disease_of_bone_3	MONDO:MONDO:0007105,MedGen:C5779877,OMIM:105550,Orphanet:275872|MONDO:MONDO:0011183,MedGen:C4085251,OMIM:602080|MedGen:CN169374|MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0025	0.00159744	0.0007	0.0071	0.0005	0	0	0	0	0	0.0006468	100	154602	rs141436407	0.0002	0.0002	0.0003	0.0002	0.0081	0.0002	0.0002	0.0073	0.0070	0.0081	0.0004	0	2.519e-05	0	0.0003	6.296e-06	0.0006	1.159e-05	0.0021	0.0021	0.0023	0.0019	0.0073	0.0019	0.0018	0.0066	0.0063	0.0073	0	0.0007	0	0.0002	0	0	1.471e-05	0.0028	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	.	.	.	.	.	.	.	.	0.05	1642.43	38	chr5	179833613	.	A	G	1642.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.895;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.161;SOR=0.729	GT:AD:DP:GQ:PL	0/1:60,74:134:99:1654,0,1446	9	0	1	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	5	101	508	907	1	2323	0.919968	.	.	.	54134	Woolly_hair-skin_fragility_syndrome|not_provided|DSP-related_disorder|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Cardiovascular_phenotype|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|.|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.767875	0.792929	0.766304	0.698830	0.800000	0.810345	0.829268	0.704545	0.8	85878.4	534	chr6	7585734	.	G	C	85878.4	.	AC=16;AF=0.8;AN=20;BaseQRankSum=2.8;DP=3661;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=24.18;ReadPosRankSum=0.224;SOR=0.671	GT:AD:DP:GQ:PL	1/1:0,296:296:99:9628,888,0	0	6	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1595.53	95	chr6	15593088	.	G	GA	1595.53	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.02;DP=510;ExcessHet=7.0302;FS=4.221;InbreedingCoeff=-0.5339;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=6.57;ReadPosRankSum=-0.364;SOR=0.861	GT:AD:DP:GQ:PL	0/1:15,12:29:99:214,0,308	5	0	5	0
chr6	32038297	32038297	C	T	upstream	CYP21A2	dist=118	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	3542235	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	0.00319489	.	.	.	.	.	.	.	.	0.0015752	41	26028	rs191516492	0.0007	0.0008	0.0008	0.0007	0.0104	0.0007	0.0007	0.0095	0.0091	0.0104	0.0013	4.022e-05	0.0022	0	0.0017	0.0003	0.0023	0.0013	0.0034	0.0036	0.0034	0.0034	0.0100	0.0031	0.0030	0.0092	0.0089	0.0100	0	0.0025	0	0.0041	0	0.0034	0.0004	0.0038	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	123.43	17	chr6	32038297	.	C	T	123.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=251;ExcessHet=0;FS=6.793;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.77;MQRankSum=0.561;QD=3.43;ReadPosRankSum=-0.46;SOR=2.231	GT:AD:DP:GQ:PL	0/1:29,7:36:99:135,0,753	9	0	1	0
chr6	32039081	32039081	C	A	UTR5	CYP21A2	NM_001368143:c.-126C>A;NM_001368144:c.-126C>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	9	182	648	678	5	2009	0.846284	.	.	YES	193439	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	0.6293	0.650759	0.7060	0.7281	0.7932	0.7161	0.6224	0.7014	0.6834	0.6705	0.588071	90917	154602	rs6467	0.5950	0.5925	0.5939	0.5962	0.7333	0.5940	0.5935	0.7265	0.7237	0.6439	0.7333	0.6468	0.6576	0.4707	0.6835	0.5882	0.6013	0.6165	0.6088	0.6089	0.6127	0.6048	0.7113	0.6055	0.6042	0.7001	0.6955	0.6364	0.6394	0.7113	0.6359	0.6316	0.4363	0.6130	0.5918	0.6460	0.5973	0.313	0.13879	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-0.3	0.67874	T	0.4	0.03463	N	.	.	-1.0318	0.19873	T	0.093	0.35444	T	5	1.7294652e-06	0.00003	T	.	.	.	0.034	0.08419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.636234	0.00088	T	-0.542863	0.18016	T	0.00180369962629931	0.00018	T	0.226077	0.02982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05535	B	.	.	0.164705	0.05545	2.006	0.43740471587862012	0.03314	0.00179	0.01050	N	AEFBI	0.087333	0.17709	N	-1.19446011224149	0.05083	0.2309094	-1.36986281538789	0.03577	0.1671443	1.13245368839307E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	3.06	-0.591	0.11090	-0.233000	0.09056	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1987:0.5349:0.1383:0.1281	3.239	0.06373	923	0.18507	.	TCF19|C4A|CYP21A2|HLA-DRB9|HLA-DRB5|C4A|CYP21A1P|TNXA|HLA-DRB5|TNXA|CFB|MICB|C6orf48|CFB|C4A|CYP21A1P|HLA-DRB5|MICB|C4A|C4A|HLA-DRB9|HLA-DRB5|HLA-DOB|HLA-DMB|MICB|DDAH2|C4A|C4B|PSMB9|HLA-DRB5|HLA-DRB5|C4A|HLA-DRB5|PSORS1C1|MICB|LY6G6C|C4A|HLA-DRB5|C4A|C4A|HLA-DRB5|HLA-DRB5|MICB|TNXA|HLA-DRB5|MICB|C4A|HLA-DRB5|C4A|CYP21A1P|HLA-DRB5|C4A|TNXA|CYP21A2|HLA-DRB5|C6orf48|C4A|C4B|HLA-DRB5|MICB|MSH5|C6orf48|C4A|C4B|HLA-DRB5|C4A|TNXA|TAP1|HCG22|MICB|C4A|CYP21A1P|HLA-DRB9|HLA-DRB5|HLA-DMA|C4A|C4A|C4B|HLA-DRB5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	DXO|HLA-DRB5|HLA-DRB6|HLA-DRB1|VARS|VARS|C6orf15|CDSN|DXO|HLA-DQA1|DXO|CYP21A1P|CYP21A2	Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Cerebellum|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis	rs6467	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.55	13777.0	58	chr6	32039081	.	C	A	13777.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=1.09;DP=700;ExcessHet=5.1594;FS=2.742;InbreedingCoeff=-0.4141;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=21.13;ReadPosRankSum=1.29;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,58:89:99:.:.:1547,0,615:.	1	2	7	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	.	.	.	.	.	.	.	.	0.05	229.43	41	chr6	32041147	.	G	A	229.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=423;ExcessHet=0;FS=1.112;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=56.45;MQRankSum=-0.22;QD=2.61;ReadPosRankSum=-1.56;SOR=0.498	GT:AD:DP:GQ:PL	0/1:73,15:88:99:241,0,1949	9	0	1	0
chr6	32041874	32041874	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1817A:p.S606N,TNXB:NM_001365276:exon43:c.G12530A:p.S4177N,TNXB:NM_019105:exon43:c.G12524A:p.S4175N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	156	1167	186	13	0	212	0.0832679	.	.	.	188198	not_specified|not_provided|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.224	.	.	.	0.2369	0.3095	0.2	0.1429	0	0.2778	0.1795	0.2191	0.0010758	28	26028	rs199953230	0.0630	0.0905	0.0592	0.0664	0.1302	0.0624	0.0622	0.1249	0.1228	0.1302	0.0596	0.1009	0.0097	0.0564	0.0714	0.0578	0.0619	0.1021	0.0672	0.1011	0.0661	0.0684	0.1241	0.0658	0.0652	0.1200	0.1183	0.1241	0.0690	0.0633	0.0770	0.0199	0.0294	0.0337	0.0503	0.0673	0.0711	0.551	0.14996	T	1.0	0.01155	T	.	.	.	.	.	.	0.000041	0.53742	N	0.000000	1	0.08975	N	.	.	.	-1.13	0.77719	T	1.79	0.01121	N	0.06	0.07125	-1.0357	0.18637	T	0.077	0.30737	T	10	0.001997441	0.00028	T	.	.	.	0.224	0.52174	.	.	.	.	0.07582235178256264	0.07518	1.53742651601	0.87669	0.813815176487	0.84078	D	0.002058	0.01461	T	-0.234486	0.16060	T	-0.574599	0.15031	T	0.00591933667003544	0.00065	T	0.0176649	0.00099	T	0.06130841	0.12681	0.061310552	0.11818	0.06130841	0.12681	0.061310552	0.11817	-1.845	0.03461	T	0.1229657868823964	0.11852	0.050	0.00315	B	.;.;.;.;.	.;.;.;.;.	1.709254	0.21764	15.34	0.88167499122725401	0.17767	0.04006	0.09432	N	AEFGI	0.064479	0.12523	N	-0.809593627523601	0.13065	0.6410341	-0.628300974256214	0.18767	1.004015	0.0322796501112813	0.14047	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	0.728000	0.25682	.	.	-0.113000	0.14837	0.000000	0.06391	1.000000	0.68203	0.988000	0.63387	0.0:0.1752:0.0:0.8248	7.621	0.27353	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.162000	0.108696	0.195067	0.092593	0.000000	0.112903	0.107692	0.212329	0.2	530.92	25	chr6	32041874	.	C	T	530.92	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.17;DP=235;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.2566;MLEAC=4;MLEAF=0.2;MQ=30.06;MQRankSum=-0.866;QD=3.82;ReadPosRankSum=0.878;SOR=0.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,4:38:13:.:.:13,0,1257:.	6	0	4	0
chr6	32041884	32041884	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1807A:p.D603N,TNXB:NM_001365276:exon43:c.G12520A:p.D4174N,TNXB:NM_019105:exon43:c.G12514A:p.D4172N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	196	1075	234	17	0	268	0.110835	.	.	.	188199	not_provided|not_specified|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.573	.	.	.	0.3540	0.3552	0.2576	0.2614	0.25	0.3279	0.3235	0.3705	0.0028815	75	26028	rs200523717	0.0936	0.1128	0.0868	0.0996	0.1959	0.0929	0.0926	0.1926	0.1913	0.1491	0.0685	0.1155	0.0517	0.0767	0.0855	0.0816	0.0909	0.1959	0.0934	0.1198	0.0902	0.0970	0.1735	0.0916	0.0909	0.1588	0.1531	0.1512	0.0543	0.0817	0.0987	0.0567	0.0481	0.0455	0.0740	0.0915	0.1735	0.0	0.91255	D	0.013	0.65728	D	.	.	.	.	.	.	0.000063	0.52346	D	0.000000	0.996006	0.53665	D	.	.	.	-2.09	0.86077	D	-3.33	0.76655	D	0.197	0.60241	0.625	0.92223	D	0.742	0.91206	D	10	0.008031756	0.00182	T	.	.	.	0.573	0.82686	.	.	.	.	0.6407622812908406	0.64011	2.90588491431	0.99094	0.832190692425	0.86898	D	0.145862	0.48318	T	-0.011318	0.50081	T	-0.254034	0.49419	T	0.0173785942299874	0.00476	T	0.856614	0.67171	D	0.72789073	0.79605	0.6560945	0.79863	0.72789073	0.79606	0.6560945	0.79864	-9.574	0.71400	D	0.1226877263887742	0.11790	0.685	0.72405	P	.;.;.;.;.	.;.;.;.;.	5.229507	0.87781	29.4	0.99892685643528023	0.96666	0.96837	0.71207	D	AEFGI	0.734139	0.68036	D	0.721571237210364	0.81047	7.431562	0.669935722984053	0.80102	7.224991	0.998872174677663	0.37868	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	5.028000	0.63895	.	.	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.619	0.84780	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.190000	0.125000	0.195980	0.058140	0.000000	0.171875	0.163793	0.272059	0.2222	933.1	21	chr6	32041884	.	C	T	933.1	.	AC=4;AF=0.222;AN=18;BaseQRankSum=0.861;DP=209;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.2921;MLEAC=4;MLEAF=0.222;MQ=29.62;MQRankSum=-1.01;QD=7.52;ReadPosRankSum=1.34;SOR=0.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,15:34:99:.:.:425,0,531:.	5	0	4	1
chr6	39026654	39026654	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon91:c.C13172T:p.T4391M,DNAH8:NM_001206927:exon92:c.C13823T:p.T4608M	.	.	.	.	.	.	.	.	.	.	.	395182	Primary_ciliary_dyskinesia|Spermatogenic_failure_46	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.106	.	0.0015	0.00159744	0.0005	0.0053	0.0004	0	0	1.511e-05	0	0	0.0004398	68	154602	rs142438011	0.0001	0.0001	0.0002	0.0001	0.0041	0.0001	0.0001	0.0036	0.0033	0.0041	0.0003	0	0	0	0.0002	1.439e-05	0.0004	5.799e-05	0.0016	0.0016	0.0015	0.0017	0.0056	0.0014	0.0014	0.0050	0.0048	0.0056	0	0.0006	0	0	0	0	0	0.0009	0	0.064	0.36509	T	.	.	.	0.65	0.40644	P	0.569	0.49832	P	0.010018	0.30104	N	0.330753	0.899	0.36122	D	2.765	0.80766	M	3.02	0.08986	T	-2.66	0.56945	D	0.263	0.29774	-1.1379	0.01439	T	0.025	0.10598	T	10	0.0058651567	0.00131	T	.	.	.	0.106	0.30130	.	.	0.711946693247	0.70942	0.3993011695767112	0.39845	0.402848295305	0.41231	0.350839138031	0.18045	T	0.053906	0.29574	T	-0.594734	0.00157	T	-0.624736	0.10818	T	0.04610653272596	0.04802	T	0.649735	0.26051	T	0.06971989	0.15299	0.20986404	0.45349	0.07032313	0.15481	0.23570603	0.48821	-5.653	0.43273	T	.	.	0.080	0.08129	B	.;.	.;.	0.408986	0.07802	4.490	0.99490361585142217	0.67403	0.12416	0.17255	N	AEFBI	0.103062	0.20659	N	-0.210096819219514	0.32720	1.848298	-0.347618420090077	0.26583	1.469261	0.136769193473132	0.17197	0.549168	0.22868	0	0.627178	0.54094	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	6.16	1.88	0.24630	0.233000	0.17689	-0.113000	0.11807	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.198000	0.21837	0.0:0.6936:0.0:0.3064	9.981	0.40986	768	0.49510	Dynein heavy chain domain;Dynein heavy chain 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	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1735.43	33	chr6	39026654	.	C	T	1735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.752;DP=471;ExcessHet=0;FS=1.221;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.342;SOR=0.595	GT:AD:DP:GQ:PL	0/1:85,80:165:99:1747,0,1775	9	0	1	0
chr6	123352541	123352541	T	C	exonic	TRDN	.	nonsynonymous SNV	TRDN:NM_001251987:exon21:c.A1370G:p.Q457R,TRDN:NM_006073:exon21:c.A1367G:p.Q456R	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	6	1506	10	0	0	10	0.00330907	0.8442	0.57	.	229398	Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia_1|not_specified|not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia_5	MedGen:CN230736|MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014191,MedGen:C3809536,OMIM:615441,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.054	0.0117083682409	0.0024	0.000399361	0.0012	0.0010	8.908e-05	0	0.0003	0.0017	0.0022	0.0012	0.0013519	209	154602	rs200243235	0.0021	0.0021	0.0021	0.0021	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0001	0	0	0.0003	0.0005	0.0025	0.0018	0.0016	0.0013	0.0013	0.0014	0.0012	0.0024	0.0011	0.0011	0.0021	0.0020	0.0006	0	6.564e-05	0	0	0	0	0.0024	0	0.0014	0.0	0.91255	D	0.196	0.27943	T	0.999	0.77913	D	0.915	0.65091	D	0.000193	0.48115	D	0.000000	0.936174	0.26924	N	0.805	0.20218	L	2.29	0.17113	T	-0.82	0.22508	N	0.322	0.36254	-1.0853	0.06353	T	0.032	0.13767	T	10	0.013671964	0.00289	T	0.011708	0.29605	T	0.054	0.15330	.	.	0.101711395817	0.09552	0.0055751895314358705	0.00527	.	.	0.497182607651	0.38436	T	0.142311	0.47783	T	-0.452048	0.01099	T	-0.421983	0.30847	T	0.057154620617361	0.06713	T	0.451655	0.12799	T	0.3994474	0.60694	0.45604387	0.68380	0.3994474	0.60694	0.45604387	0.68381	-4.292	0.28065	T	0.3408897636466289	0.43862	0.132	0.28521	B	.	.	4.703091	0.75479	26.3	0.99842116485199861	0.92229	0.84673	0.43758	D	AEFGHCIJ	0.599758	0.59265	D	0.369983115890946	0.59801	4.162756	0.417521236726718	0.62654	4.484724	0.999520267661672	0.40175	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	4.42	0.52775	2.961000	0.48861	6.137000	0.53999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1631:0.8369	10.434	0.43612	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1209.43	35	chr6	123352541	.	T	C	1209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.783;DP=435;ExcessHet=0;FS=2.298;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=1.42;SOR=0.484	GT:AD:DP:GQ:PL	0/1:66,58:124:99:1221,0,1618	9	0	1	0
chr6	129267185	129267185	C	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon16:c.C2288T:p.A763V,LAMA2:NM_001079823:exon16:c.C2288T:p.A763V	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	455207	Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency|LAMA2-related_muscular_dystrophy|not_provided	MedGen:C1842898|MONDO:MONDO:0100228,MedGen:C5679788|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.383	0.0384690841205	.	0.000399361	0.0002	0	0	0.0012	0	8.992e-05	0	0.0004	0.0001552	24	154602	rs141521127	0.0002	0.0002	0.0002	0.0002	0.0032	0.0002	0.0002	0.0028	0.0026	0	0	0.0018	0.0032	0	0.0003	4.86e-05	0.0002	0.0006	0.0001	0.0001	0.0001	0.0001	0.0021	8.167e-05	6.723e-05	0.0012	0.0009	0	0	6.543e-05	0.0009	0.0021	0	0	2.941e-05	0	0.0004	0.002	0.72154	D	.	.	.	0.999	0.77913	D	0.889	0.63100	P	0.000011	0.62929	D	0.064550	0.999996	0.58761	D	2.31	0.66127	M	0.04	0.62051	T	-3.14	0.64019	D	0.622	0.64989	-0.2539	0.76254	T	0.385	0.74091	T	10	0.09862691	0.17845	T	0.038469	0.58239	D	0.383	0.70029	.	.	0.8349895251	0.83341	0.568770039781489	0.56805	0.433853106296	0.43527	0.543026685715	0.44874	T	0.058498	0.62120	T	-0.139031	0.30045	T	-0.0229262	0.68836	D	0.242683126496826	0.22542	T	0.877312	0.60617	D	0.42491737	0.62417	0.40663326	0.65031	0.42491737	0.62418	0.40663326	0.65031	-11.305	0.81304	D	0.2467909815087228	0.33422	0.225	0.45714	B	.;.;.	.;.;.	4.709538	0.75645	26.4	0.99935615425962498	0.99579	0.91224	0.53104	D	AEFDBHCIJ	0.641705	0.61894	D	0.789214879695692	0.85425	8.572434	0.776923975787765	0.88149	9.474432	0.999999993010954	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.530356	0.10902	0	.	.	5.75	5.75	0.90390	5.241000	0.65206	4.922000	0.46051	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	19.953	0.97209	828	0.39726	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF 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	.	.	.	.	.	.	.	.	0.05	1058.43	36	chr6	129267185	.	C	T	1058.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.319;DP=405;ExcessHet=0;FS=0.757;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.094;SOR=0.818	GT:AD:DP:GQ:PL	0/1:48,49:97:99:1070,0,1088	9	0	1	0
chr6	131851228	131851228	A	C	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon4:c.A517C:p.K173Q	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	2	993	455	72	0	599	0.231721	.	.	YES	28628	Obesity|Hypopigmentation-punctate_palmoplantar_keratoderma_syndrome|Insulin_resistance,_susceptibility_to|Type_2_diabetes_mellitus|not_provided|Hypophosphatemic_rickets|Diabetes_mellitus_type_2,_susceptibility_to|Hypophosphatemic_rickets,_autosomal_recessive,_2|Arterial_calcification,_generalized,_of_infancy,_1|Inherited_obesity|ENPP1-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529|MONDO:MONDO:0014227,MedGen:C3809781,OMIM:615522,Orphanet:324561|MedGen:C1852091|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375|MedGen:C3837967|MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	.	0.3502	0.342252	0.2063	0.7833	0.1748	0.0993	0.1346	0.1522	0.1751	0.1698	0.0048025	125	26028	rs1044498	0.1615	0.1616	0.1636	0.1594	0.7978	0.1610	0.1608	0.7898	0.7865	0.7978	0.1927	0.2216	0.0933	0.1280	0.2302	0.1406	0.1991	0.1710	0.3286	0.3290	0.3348	0.3222	0.7756	0.3262	0.3252	0.7685	0.7655	0.7756	0.3158	0.2446	0.2323	0.0942	0.1217	0.2347	0.1422	0.2955	0.1774	0.315	0.13789	T	0.379	0.16037	T	0.072	0.23997	B	0.068	0.27651	B	0.587550	0.11081	N	0.811774	1	0.08975	P	1.81	0.47622	L	0.95	0.43279	T	-1.57	0.37955	N	0.031	0.00770	-1.0817	0.07022	T	0.051	0.21689	T	9	9.3244637e-07	0.00003	T	.	.	.	0.055	0.15663	.	.	.	.	0.5922575994283148	0.59155	0.222986614552	0.24826	0.243391931057	0.03104	T	0.403814	0.76046	T	-0.729824	0.00024	T	-0.677298	0.07149	T	0.0158636155010768	0.00372	T	0.369163	0.08660	T	0.08555309	0.19849	0.05395216	0.09186	0.0991331	0.23392	0.07375446	0.16063	-3.387	0.14882	T	0.2569421100413521	0.34729	0.068	0.02927	B	.;.	.;.	1.664263	0.21222	15.10	0.93115564684636221	0.22749	0.05113	0.10917	N	AEFBIJ	0.105389	0.21059	N	-0.736100686356782	0.15014	0.7529111	-0.6970689374069	0.17033	0.9038945	0.375294786666874	0.19909	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.55	3.39	0.37919	1.445000	0.34690	2.351000	0.32314	-0.234000	0.07639	0.003000	0.16062	0.006000	0.19429	0.928000	0.46473	0.8272:0.1728:0.0:0.0	14.335	0.66145	833	0.38804	Somatomedin B domain|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain	ENPP1	Pancreas	.	.	rs1044498	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.261833	0.328283	0.322011	0.283626	0.300000	0.181034	0.176829	0.151515	0.05	1170.43	33	chr6	131851228	.	A	C	1170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.247;DP=413;ExcessHet=0;FS=1.653;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=1.34;SOR=0.539	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1182,0,1212	9	0	1	0
chr6	151615542	151615542	G	A	exonic	CCDC170	.	nonsynonymous SNV	CCDC170:NM_025059:exon10:c.G1810A:p.V604I	.	426	448	452	196	0	844	0.485057	.	.	.	165622	not_specified|Estrogen_resistance_syndrome|CCDC170-related_condition	MedGen:CN169374|MONDO:MONDO:0014148,MedGen:C3809250,OMIM:615363,Orphanet:785|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	.	0.3802	0.349441	0.3172	0.5003	0.1910	0.3218	0.1861	0.3212	0.3056	0.3314	0.307053	47471	154602	rs6929137	0.3255	0.3255	0.3250	0.3260	0.4982	0.3247	0.3244	0.4918	0.4892	0.4982	0.2070	0.3629	0.2803	0.1923	0.3932	0.3303	0.3428	0.3334	0.3565	0.3568	0.3642	0.3484	0.4987	0.3540	0.3529	0.4931	0.4907	0.4987	0.2637	0.2723	0.3589	0.3187	0.1773	0.4252	0.3218	0.3667	0.3291	0.356	0.12070	T	0.224	0.25591	T	0.026	0.19406	B	0.015	0.17295	B	0.007735	0.31228	N	0.296403	0.0986944	0.36178	P	1.43	0.35840	L	3.03	0.08898	T	-0.01	0.07155	N	0.018	0.00252	-1.0055	0.28307	T	0.136	0.45241	T	9	0.00022158027	0.00010	T	.	.	.	0.044	0.11924	.	.	.	.	0.072239817166933	0.07160	0.0961944766766	0.10857	0.265175282955	0.05523	T	0.004809	0.04227	T	-0.803418	0.00007	T	-0.78301	0.02364	T	0.00568248394408548	0.00062	T	0.713629	0.32527	T	0.02158561	0.00769	0.03398084	0.02386	0.02158561	0.00769	0.039030753	0.03904	-4.215	0.26968	T	0.6843976527898016	0.76122	0.083	0.09191	B	.	.	1.233171	0.16282	12.44	0.85539978010704987	0.15956	0.53578	0.29406	D	AEFBCI	0.144195	0.26709	N	-0.602800261098824	0.18859	0.9825487	-0.494072335675999	0.22316	1.211517	0.0315713748674104	0.14009	0.516011	0.20929	0	0.573888	0.26702	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	6.16	3.37	0.37692	0.969000	0.28967	5.021000	0.46746	-0.113000	0.14837	0.637000	0.28059	1.000000	0.68203	0.773000	0.36634	0.126:0.1149:0.7591:0.0	9.868	0.40328	938	0.14419	.	CCDC170	Brain_Substantia_nigra	.	.	rs6929137	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.379536	0.357143	0.388587	0.415205	0.500000	0.396552	0.362805	0.337121	0.25	8795.13	167	chr6	151615542	.	G	A	8795.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.674;DP=758;ExcessHet=0.2065;FS=0.533;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=-0.697;SOR=0.747	GT:AD:DP:GQ:PL	0/1:41,52:93:99:1337,0,1086	6	1	3	0
chr6	152310431	152310431	G	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon88:c.C16771T:p.R5591C,SYNE1:NM_182961:exon89:c.C16984T:p.R5662C	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1511	7	0	4	11	0.00231099	.	.	.	268711	not_provided|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Arthrogryposis_multiplex_congenita_3,_myogenic_type|SYNE1-related_disorder|Intellectual_disability|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0032778,MedGen:C5193121,OMIM:618484|.|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.310	0.0747394446894	.	.	0.0007	0.0004	0.0003	0	0	0.0010	0	0.0006	0.0006339	98	154602	rs145899734	0.0006	0.0006	0.0006	0.0006	0.0036	0.0006	0.0006	0.0024	0.0020	0.0003	0.0007	0.0005	0	0.0001	0.0036	0.0007	0.0008	0.0005	0.0006	0.0006	0.0005	0.0007	0.0009	0.0005	0.0004	0.0007	0.0007	0.0001	0	0.0008	0	0	0	0	0.0009	0.0019	0.0004	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.968	0.71741	D	0.000008	0.62929	D	0.000000	1	0.81001	D	2.39	0.68882	M	1.34	0.34841	T	-4.02	0.75297	D	0.248	0.32701	-0.5699	0.66019	T	0.284	0.65596	T	10	0.11012933	0.20572	T	0.074739	0.72116	D	0.310	0.63162	.	.	0.507928266286	0.50432	0.3026325838704886	0.30176	0.632827426536	0.57198	0.371376037598	0.21030	T	0.71194	0.91790	D	-0.0795272	0.39793	T	0.0566404	0.74023	D	0.0476017507632833	0.05072	T	0.990501	0.97142	D	0.21561357	0.43998	0.19910575	0.43777	0.21561357	0.43998	0.19910575	0.43776	-8.753	0.66093	D	.	.	0.084	0.09772	B	.;.;.	.;.;.	4.081962	0.60724	24.3	0.9993263535315039	0.99439	0.97288	0.73812	D	AEFBI	0.738954	0.68367	D	0.692491788489018	0.79140	7.015314	0.639927948192023	0.77861	6.761905	0.999999920426181	0.74766	0.475973	0.10046	0	0.547309	0.14657	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	6.06	6.06	0.98340	4.963000	0.63403	8.572000	0.77610	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	20.621	0.99492	886	0.28090	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1537.43	36	chr6	152310431	.	G	A	1537.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=465;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.27;SOR=0.606	GT:AD:DP:GQ:PL	0/1:80,67:147:99:1549,0,1732	9	0	1	0
chr6	152387199	152387199	G	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon54:c.C8381T:p.T2794M,SYNE1:NM_182961:exon54:c.C8360T:p.T2787M	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	4	1517	1	0	0	1	0.000329489	.	.	.	266532	not_specified|SYNE1-related_disorder|not_provided|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.054	0.0196976552992	0.0006	0.000599042	0.0006	9.612e-05	0	0	0	0.0003	0	0.0030	0.0005304	82	154602	rs142676206	0.0005	0.0005	0.0004	0.0006	0.0026	0.0005	0.0005	0.0023	0.0022	0.0002	8.944e-05	0	0	7.488e-05	0.0007	0.0004	0.0005	0.0026	0.0003	0.0003	0.0003	0.0003	0.0029	0.0002	0.0002	0.0018	0.0014	0.0001	0	0	0	0	0	0	0.0004	0	0.0029	0.004	0.68238	D	0.006	0.70582	D	0.861	0.47410	P	0.186	0.36104	B	0.673302	0.10322	N	0.844168	1	0.08975	N	1.39	0.34934	L	1.33	0.35031	T	-3.07	0.65171	D	0.154	0.18920	-1.0949	0.04766	T	0.038	0.16505	T	10	0.004671514	0.00098	T	0.019698	0.42129	T	0.054	0.15330	.	.	0.396044805602	0.39223	0.058306367123164525	0.05771	0.218494503368	0.24388	0.274333715439	0.06714	T	0.526751	0.83549	D	-0.554033	0.00276	T	-0.573533	0.15127	T	0.0736786626600094	0.09159	T	0.89551	0.65583	D	0.050842647	0.09248	0.10352412	0.24841	0.06368297	0.13434	0.104431875	0.25081	-6.652	0.51448	T	.	.	0.097	0.15921	B	.;.;.	.;.;.	0.973545	0.13505	10.03	0.48836804643797771	0.04108	0.51148	0.28828	D	AEFI	0.319170	0.42265	N	-0.256684570780881	0.30837	1.723282	-0.327549145300613	0.27212	1.508418	0.736961653415461	0.23147	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	3.42	0.38259	3.237000	0.51043	0.953000	0.22937	0.676000	0.76740	0.334000	0.25623	0.000000	0.08366	0.063000	0.16184	0.0752:0.1244:0.8004:0.0	12.107	0.53117	854	0.34840	.;.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1255.43	44	chr6	152387199	.	G	A	1255.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=495;ExcessHet=0;FS=2.255;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=0.14;SOR=0.947	GT:AD:DP:GQ:PL	0/1:87,55:142:99:1267,0,2074	9	0	1	0
chr6	152391580	152391580	-	AAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299476	Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0692	0.0572	0.0446	0.1472	0.0524	0.0572	0.0842	0.1106	0.0001921	5	26028	rs768125041	0.1080	0.1249	0.1087	0.1074	0.2456	0.1075	0.1073	0.2409	0.2389	0.0980	0.0497	0.0906	0.2456	0.0967	0.0955	0.1050	0.1115	0.1270	0.1623	0.1700	0.1628	0.1618	0.3566	0.1604	0.1596	0.3411	0.3349	0.1644	0.1811	0.1235	0.1686	0.3566	0.1421	0.1619	0.1554	0.1614	0.1968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4134.5	65	chr6	152391580	.	G	GAAAAAA	4134.5	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.283;DP=367;ExcessHet=0.0405;FS=2.339;InbreedingCoeff=0.3543;MLEAC=8;MLEAF=0.4;MQ=59.98;MQRankSum=0;QD=23.49;ReadPosRankSum=0.571;SOR=0.876	GT:AD:DP:GQ:PL	0/1:0,3:6:73:332,99,76	3	1	6	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	0.55	14892.7	98	chr6	170561964	.	G	A	14892.7	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.521;DP=1587;ExcessHet=1.5895;FS=1.983;InbreedingCoeff=-0.25;MLEAC=11;MLEAF=0.55;MQ=59.98;MQRankSum=0;QD=17.24;ReadPosRankSum=3.16;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,44:50:77:1|0:170561949_GCAA_G:3363,327,77:170561949	1	2	7	0
chr7	16278234	16278234	-	A	intronic	CRPPA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	195281	not_provided|Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7|not_specified	MedGen:C3661900|MedGen:CN239202|MONDO:MONDO:0014474,MedGen:C5190987,OMIM:616052,Orphanet:352479|MONDO:MONDO:0013835,MedGen:C3553330,OMIM:614643,Orphanet:899|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0748	.	0.0735	0.1873	0.0511	0.0304	0.0238	0.0680	0.0732	0.0573	0.0047641	124	26028	rs3839757	0.0412	0.0543	0.0405	0.0420	0.1580	0.0409	0.0408	0.1537	0.1520	0.1580	0.0402	0.1747	0.0316	0.0254	0.0891	0.0345	0.0578	0.0441	0.0699	0.0694	0.0714	0.0683	0.1606	0.0688	0.0683	0.1573	0.1560	0.1606	0.0322	0.0442	0.1694	0.0192	0.0192	0.0552	0.0290	0.0733	0.0390	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	613.13	46	chr7	16278234	.	T	TA	613.13	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.832;DP=376;ExcessHet=0.2348;FS=6.631;InbreedingCoeff=-0.1236;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=1.23;SOR=0.282	GT:AD:DP:GQ:PL	0/1:14,13:27:99:303,0,309	8	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	31574.0	113	chr7	21867834	.	G	GT	31574.0	.	AC=15;AF=0.75;AN=20;BaseQRankSum=-0.42;DP=933;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2;MLEAC=15;MLEAF=0.75;MQ=60;MQRankSum=0;QD=32.21;ReadPosRankSum=-0.799;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,105:105:99:1|1:21867834_G_GT:4650,316,0:21867834	1	6	3	0
chr7	21894771	21894771	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon78:c.G12899A:p.R4300H	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	229589	Primary_ciliary_dyskinesia_7|Primary_ciliary_dyskinesia|not_provided|not_specified	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.130	0.00540154496653	0.0002	0.000399361	0.0005	0.0002	0.0006	0	0	0.0003	0	0.0022	0.0004657	72	154602	rs377388499	0.0003	0.0003	0.0002	0.0003	0.0022	0.0003	0.0002	0.0020	0.0019	6.004e-05	0.0002	0	2.521e-05	1.874e-05	0.0021	0.0001	0.0003	0.0022	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0.0001	0	0.0003	0	0	0	0	0.0004	0	0.0021	0.002	0.72154	D	.	.	.	.	.	.	.	.	.	0.000007	0.62929	N	0.104170	0.992916	0.41780	D	.	.	.	2.89	0.10196	T	-3.92	0.73151	D	0.229	0.28965	-1.0863	0.06173	T	0.027	0.11485	T	9	0.010042906	0.00225	T	0.005402	0.13862	T	0.130	0.35528	.	.	0.247322355667	0.24350	0.3876008304815128	0.38675	.	.	0.246520906687	0.03410	T	0.209726	0.57002	T	-0.430524	0.01472	T	-0.397361	0.33691	T	0.0487815743853669	0.05284	T	0.822518	0.48242	T	0.1951857	0.41297	0.21421741	0.45963	0.19428328	0.41172	0.23337096	0.48523	-5.884	0.45299	T	0.4281443655002869	0.51574	0.089	0.12228	B	.;.;.	.;.;.	2.390271	0.30693	18.52	0.99597207696157319	0.73983	0.29028	0.23713	N	AEFBHI	0.241632	0.36322	N	-0.378700305676832	0.26229	1.429921	-0.476162998931966	0.22812	1.240914	0.0714775686266725	0.15568	0.651	0.46895	0	0.588066	0.40923	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.6	2.83	0.32150	0.400000	0.20657	1.242000	0.25113	0.676000	0.76740	0.000000	0.06391	0.376000	0.24592	0.299000	0.24476	0.2869:0.0:0.7131:0.0	9.740	0.39580	841	0.37094	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain 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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	2924.43	34	chr7	21894771	.	G	A	2924.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.991;DP=527;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.886;SOR=0.678	GT:AD:DP:GQ:PL	0/1:97,115:212:99:2936,0,2265	9	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	3364.4	36	chr7	30633896	.	TA	T	3364.4	.	AC=12;AF=0.667;AN=18;BaseQRankSum=1.31;DP=304;ExcessHet=0.8432;FS=0;InbreedingCoeff=-0.0036;MLEAC=11;MLEAF=0.611;MQ=60;MQRankSum=0;QD=18.69;ReadPosRankSum=-0.306;SOR=0.802	GT:AD:DP:GQ:PL	1/1:0,9:9:27:234,27,0	1	4	4	1
chr7	80673392	80673392	-	TTCT	exonic	CD36	.	frameshift insertion	CD36:NM_001289908:exon9:c.1120_1121insTTCT:p.W376Sfs*4,CD36:NM_001371080:exon10:c.772_773insTTCT:p.W260Sfs*4,CD36:NM_001127444:exon11:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001289909:exon11:c.1057_1058insTTCT:p.W355Sfs*4,CD36:NM_001289911:exon11:c.1009_1010insTTCT:p.W339Sfs*4,CD36:NM_001127443:exon12:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_000072:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001001547:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001001548:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371074:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371075:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371077:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371078:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371079:exon13:c.1135_1136insTTCT:p.W381Sfs*4,CD36:NM_001371081:exon13:c.772_773insTTCT:p.W260Sfs*4	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1020402	Platelet-type_bleeding_disorder_10	MONDO:MONDO:0012031,MedGen:C1842090,OMIM:608404	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	8.703e-05	0	0	0	0	0.0019	0.0002135	33	154602	rs757142781	0.0002	0.0002	6.199e-05	0.0003	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0005	0	0.0002	0.0025	0.0001	0.0001	2.577e-05	0.0002	0.0035	8.683e-05	7.271e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0.0014	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	789.39	37	chr7	80673392	.	A	ATTCT	789.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.833;DP=306;ExcessHet=0;FS=5.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.92;ReadPosRankSum=-0.793;SOR=0.223	GT:AD:DP:GQ:PL	0/1:13,20:33:99:801,0,481	9	0	1	0
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	8843.54	65	chr7	92499847	.	CA	C	8843.54	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.302;DP=600;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=-0.041;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,46:52:45:.:.:1252,100,0:.	0	3	7	0
chr7	103989356	103989356	-	GCCGCC	UTR5	RELN	NM_173054:c.-1_0insGGCGGC;NM_005045:c.-1_0insGGCGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	74	331	411	457	249	1574	0.666834	.	.	.	135555	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Lissencephaly,_Recessive|not_provided|not_specified	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN239458|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.604233	0.0752	0.0333	0.0078	0.0295	0.0487	0.0216	0.1337	0.2712	0.0001153	3	26028	rs587780434	0.4279	0.4210	0.4270	0.4288	0.6345	0.4270	0.4266	0.6265	0.6232	0.4306	0.2776	0.3620	0.6345	0.3927	0.4386	0.4227	0.4408	0.5133	0.5219	0.5255	0.5206	0.5232	0.7433	0.5188	0.5175	0.7227	0.7143	0.5155	0.4234	0.5423	0.4904	0.7433	0.5017	0.5647	0.5012	0.5010	0.6741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	20378.1	48	chr7	103989356	.	T	TGCCGCC	20378.1	.	AC=18;AF=0.9;AN=20;BaseQRankSum=-1.13;DP=765;ExcessHet=0;FS=3.324;InbreedingCoeff=-0.0526;MLEAC=18;MLEAF=0.9;MQ=60;MQRankSum=0;QD=29.37;ReadPosRankSum=-1.003;SOR=1.289	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1701,112,0	1	9	0	0
chr7	114663436	114663436	-	T	intronic	FOXP2	.	.	.	Speech-language disorder-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177727	Inborn_genetic_diseases|Childhood_apraxia_of_speech|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3236	0.209465	0.3636	0.1063	0.2943	0.1724	0.4590	0.4369	0.3610	0.3263	0.0001153	3	26028	rs1478553257	0.3837	0.3970	0.3848	0.3826	0.4175	0.3828	0.3824	0.4164	0.4159	0.0938	0.2799	0.2759	0.1190	0.4085	0.1994	0.4175	0.3570	0.3056	0.3203	0.3199	0.3227	0.3178	0.4529	0.3179	0.3169	0.4486	0.4469	0.1010	0.3819	0.3039	0.2802	0.1440	0.4542	0.1910	0.4529	0.2949	0.3137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4975.96	73	chr7	114663436	.	A	AT	4975.96	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.666;DP=513;ExcessHet=5.1594;FS=1.747;InbreedingCoeff=-0.4141;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.848;SOR=0.849	GT:AD:DP:GQ:PL	0/1:21,26:49:99:603,0,469	2	1	7	0
chr7	116771936	116771936	C	T	exonic	MET	.	nonsynonymous SNV	MET:NM_001324402:exon13:c.C1685T:p.T562I,MET:NM_000245:exon14:c.C2975T:p.T992I,MET:NM_001127500:exon14:c.C3029T:p.T1010I	Hepatocellular carcinoma, childhood type, somatic;Renal cell carcinoma, papillary, 1, familial and somatic	0	1514	8	0	0	8	0.00263505	.	.	.	50063	not_specified|Papillary_renal_cell_carcinoma_type_1|Congenital_diaphragmatic_hernia|not_provided|Hereditary_cancer-predisposing_syndrome|Renal_cell_carcinoma|Arthrogryposis,_distal,_IIa_11|Hepatocellular_carcinoma|Autosomal_recessive_nonsyndromic_hearing_loss_97|Osteofibrous_dysplasia|Classic_Hodgkin_lymphoma|MET-related_disorder	MedGen:CN169374|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071|MONDO:MONDO:0031045,MedGen:C5774205,OMIM:620019|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|MONDO:MONDO:0014739,MedGen:C4084709,OMIM:616705,Orphanet:90636|MONDO:MONDO:0011806,MedGen:C4085248,OMIM:607278,Orphanet:488265|Human_Phenotype_Ontology:HP:0012189,MONDO:MONDO:0009348,MedGen:C0019829,OMIM:236000,Orphanet:391|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.352	.	0.0089	0.00339457	0.0079	0.0020	0.0013	0	0.0204	0.0113	0.0067	0.0018	0.0079171	1224	154602	rs56391007	0.0110	0.0110	0.0110	0.0109	0.0125	0.0108	0.0108	0.0124	0.0123	0.0015	0.0017	0.0080	5.04e-05	0.0197	0.0009	0.0125	0.0091	0.0018	0.0088	0.0088	0.0088	0.0088	0.0132	0.0084	0.0083	0.0124	0.0122	0.0022	0.0186	0.0034	0.0078	0	0.0216	0	0.0132	0.0090	0.0019	0.004	0.68238	D	0.031	0.54159	D	0.999	0.90584	D	0.997	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.045	0.56016	M	-0.74	0.73205	T	-1.63	0.39119	N	0.625	0.74826	-0.1397	0.79172	T	0.376	0.73393	T	10	0.007516116	0.00171	T	.	.	.	0.352	0.67326	.	.	0.606762796512	0.60361	0.4581895006162951	0.45736	0.765425689661	0.64471	0.752107322216	0.74758	T	0.399898	0.75762	T	-0.24809	0.14334	T	-0.116816	0.62062	T	0.0231625427891682	0.01043	T	0.936406	0.76145	D	0.22386786	0.45017	0.2605364	0.51818	0.19465803	0.41224	0.22539853	0.47482	-4.369	0.29133	T	0.7349994049296336	0.81682	0.662	0.71762	P	.;.	.;.	5.048591	0.84074	28.2	0.99919341375078163	0.98654	0.98143	0.79968	D	AEFDBI	0.945623	0.95413	D	0.697722431664974	0.79484	7.087147	0.743222810337306	0.85650	8.644232	0.999999999999999	0.74766	0.75658	0.98901	0	0.59043	0.45803	0	0.667671	0.60360	0	0.656636	0.63459	0	.	.	5.67	5.67	0.87673	7.361000	0.78756	7.681000	0.65292	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.117	0.97940	602	0.67834	.;.	.	.	.	.	rs56391007	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	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	953.43	38	chr7	116771936	.	C	T	953.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.097;DP=418;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=1.44;SOR=0.78	GT:AD:DP:GQ:PL	0/1:50,46:96:99:965,0,1237	9	0	1	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	2	82	476	962	0	2400	0.936037	.	.	.	135324	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	0.9	34657.8	124	chr7	127611134	.	T	G	34657.8	.	AC=18;AF=0.9;AN=20;BaseQRankSum=1.15;DP=1270;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=18;MLEAF=0.9;MQ=60;MQRankSum=0;QD=28.02;ReadPosRankSum=1.9;SOR=0.726	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3508,333,0	0	8	2	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	.	.	.	.	.	.	.	.	0.4	1481.98	80	chr7	131505863	.	C	T	1481.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.554;DP=868;ExcessHet=10.3881;FS=183.687;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=1.52;SOR=10.796	GT:AD:DP:GQ:PL	0/1:44,35:79:99:451,0,603	2	0	8	0
chr7	142750561	142750561	C	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.C47T:p.A16V	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	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	0.4	13406.0	34	chr7	142750561	.	C	T	13406.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.94;DP=1250;ExcessHet=10.3881;FS=5.367;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=56.35;MQRankSum=-8.85;QD=11.68;ReadPosRankSum=-0.592;SOR=0.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,48:136:99:.:.:1693,0,2372:.	2	0	8	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	0.4	5181.98	34	chr7	142750675	.	A	G	5181.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.31;DP=1220;ExcessHet=10.3881;FS=2.471;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.2;MQRankSum=-8.832;QD=4.55;ReadPosRankSum=-2.684;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,22:164:99:0|1:142750672_T_A:496,0,5876:142750672	2	0	8	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	.	.	.	.	.	.	.	.	0.4	4442.98	34	chr7	142750680	.	C	T	4442.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.531;DP=1173;ExcessHet=10.3881;FS=2.575;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.26;MQRankSum=-9.819;QD=4.09;ReadPosRankSum=-2.975;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,20:157:99:0|1:142750672_T_A:427,0,5672:142750672	2	0	8	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	0.125	1231.72	33	chr7	142751871	.	G	A	1231.72	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.48;DP=1630;ExcessHet=0.2348;FS=5.584;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.125;MQ=58.56;MQRankSum=-13.82;QD=2.3;ReadPosRankSum=-1.326;SOR=1.176	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:227,29:256:99:0|1:142751865_C_A:514,0,9384:142751865	6	0	2	2
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	.	.	.	.	.	.	.	.	0.4	17543.0	33	chr7	142752476	.	G	C	17543.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.613;DP=2065;ExcessHet=10.3881;FS=1.925;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.33;MQRankSum=-9.62;QD=9.02;ReadPosRankSum=0.138;SOR=0.562	GT:AD:DP:GQ:PL	0/1:152,49:201:99:1425,0,4119	2	0	8	0
chr8	10610137	10610137	G	C	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.C3961G:p.Q1321E	Occult macular dystrophy, Autosomal dominant	2	1405	101	7	7	122	0.0393162	.	.	.	303844	Occult_macular_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.061	.	0.0415	.	0.0316	0.0423	0.0170	0.0001	0.0282	0.0371	0.0297	0.0320	0.0014748	228	154602	rs200373757	0.0228	0.0220	0.0219	0.0238	0.0514	0.0226	0.0225	0.0463	0.0443	0.0368	0.0196	0.0457	0.0001	0.0327	0.0514	0.0209	0.0305	0.0334	0.0316	0.0344	0.0326	0.0306	0.0350	0.0308	0.0305	0.0335	0.0328	0.0350	0.0339	0.0232	0.0545	0.0006	0.0264	0.0448	0.0336	0.0355	0.0272	0.018	0.50676	D	1.0	0.01155	T	.	.	.	.	.	.	0.256541	0.03681	N	1.785720	1	0.08975	N	0.345	0.11182	N	3.56	0.04696	T	-0.16	0.09460	N	0.125	0.11769	-0.9264	0.44659	T	0.001	0.00348	T	10	0.0043560565	0.00088	T	.	.	.	0.061	0.17616	.	.	.	.	0.03223197373654408	0.03171	.	.	0.215320184827	0.01057	T	0.034414	0.23310	T	-0.722097	0.00027	T	-0.784256	0.02327	T	0.0638056885105522	0.07753	T	0.451655	0.12799	T	0.068321265	0.14874	0.08419141	0.19349	0.068321265	0.14873	0.08419141	0.19349	-7.827	0.59885	D	0.12060043159949235	0.11357	0.083	0.09288	B	.	.	-0.013425	0.04192	1.017	0.16374435150451447	0.00436	0.00466	0.02241	N	AEFDBI	0.023428	0.01305	N	-1.11141599424465	0.06439	0.296414	-1.15961298298093	0.06597	0.3180707	1.27570028109357E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	2.13	-0.127	0.12851	-0.452000	0.06861	-0.993000	0.06672	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1593:0.191:0.288:0.3617	0.655	0.00779	794	0.45591	.	.	.	.	.	.	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	0.064451	0.040404	0.077446	0.055556	0.200000	0.051724	0.060976	0.045455	0.05	2503.43	465	chr8	10610137	.	G	C	2503.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.729;DP=3333;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.448;SOR=0.662	GT:AD:DP:GQ:PL	0/1:126,105:231:99:2515,0,4660	9	0	1	0
chr8	132886915	132886915	C	G	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon9:c.C1543G:p.Q515E	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1391	123	8	0	139	0.0475864	.	.	.	253045	Iodotyrosyl_coupling_defect|not_specified|not_provided	MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.092	.	0.0138	0.00958466	0.0164	0.0064	0.0123	0	0.0159	0.0223	0.0243	0.0099	0.0161188	2492	154602	rs180222	0.0187	0.0187	0.0185	0.0190	0.0569	0.0186	0.0185	0.0518	0.0498	0.0062	0.0130	0.0306	7.557e-05	0.0129	0.0569	0.0204	0.0202	0.0103	0.0159	0.0159	0.0162	0.0155	0.0225	0.0153	0.0151	0.0215	0.0212	0.0054	0.0703	0.0166	0.0294	0	0.0121	0.0612	0.0225	0.0246	0.0091	0.529	0.07048	T	0.178	0.29639	T	0.0	0.02946	B	0.001	0.04355	B	0.013319	0.01361	N	4.456960	1	0.08975	N	0	0.06538	N	0.02	0.62318	T	-0.27	0.11366	N	0.039	0.01274	-1.0727	0.08830	T	0.038	0.16419	T	10	0.004487753	0.00092	T	.	.	.	0.092	0.26621	.	.	.	.	0.1446695506701495	0.14389	0.0749600561829	0.08408	0.222273439169	0.01445	T	0.019309	0.15408	T	-0.637211	0.00087	T	-0.670501	0.07577	T	0.00230050772965309	0.00024	T	0.305369	0.05850	T	0.032198455	0.03201	0.044108815	0.05641	0.032198455	0.03201	0.044108815	0.05641	-2.623	0.06680	T	0.10965937410994783	0.09179	0.063	0.01470	B	.	.	-0.826542	0.01056	0.045	0.15352636884024728	0.00372	0.09759	0.15442	N	AEFBI	0.164899	0.29134	N	-1.15088584085777	0.05765	0.2636861	-1.17613165090732	0.06310	0.3033476	0.0761118644700982	0.15717	0.553676	0.25195	0	0.59043	0.45803	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.89	-1.81	0.07456	-0.087000	0.11181	-2.101000	0.04211	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.2637:0.1562:0.354:0.2261	0.558	0.00629	850	0.35610	.	.	.	.	.	.	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	0.063948	0.070707	0.057065	0.070175	0.050000	0.086207	0.079268	0.053030	0.1	2537.14	36	chr8	132886915	.	C	G	2537.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.01;DP=497;ExcessHet=0.2348;FS=1.042;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.018;SOR=0.774	GT:AD:DP:GQ:PL	0/1:41,52:93:99:1334,0,927	8	0	2	0
chr8	133029867	133029867	G	T	exonic	TG	.	synonymous SNV	TG:NM_003235:exon41:c.G7083T:p.A2361A	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	428767	not_provided|not_specified|Iodotyrosyl_coupling_defect	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.150	.	0.0035	0.00279553	0.0031	0.0009	0.0018	0	0.0005	0.0041	0.0044	0.0038	0.0030465	471	154602	rs116723711	0.0035	0.0035	0.0034	0.0036	0.0057	0.0034	0.0034	0.0042	0.0037	0.0003	0.0027	0.0100	0	0.0011	0.0057	0.0036	0.0036	0.0040	0.0029	0.0029	0.0030	0.0028	0.0049	0.0027	0.0026	0.0040	0.0037	0.0005	0	0.0049	0.0121	0.0002	0.0011	0.0034	0.0038	0.0043	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.005040	0.000000	0.004076	0.000000	0.050000	0.000000	0.009202	0.011364	0.05	962.43	40	chr8	133029867	.	G	T	962.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.875;DP=373;ExcessHet=0;FS=1.147;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=1;SOR=0.497	GT:AD:DP:GQ:PL	0/1:17,36:53:99:974,0,333	9	0	1	0
chr8	143923465	143923465	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.C6422T:p.A2141V,PLEC:NM_201379:exon31:c.C6398T:p.A2133V,PLEC:NM_201380:exon31:c.C6875T:p.A2292V,PLEC:NM_201381:exon31:c.C6368T:p.A2123V,PLEC:NM_201382:exon31:c.C6464T:p.A2155V,PLEC:NM_201383:exon31:c.C6476T:p.A2159V,PLEC:NM_201384:exon31:c.C6464T:p.A2155V,PLEC:NM_000445:exon32:c.C6545T:p.A2182V	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	425783	Inborn_genetic_diseases|not_provided|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.359	0.212209505945	0.0002	0.000199681	0.0003	0	0.0002	0.0001	0.0002	0.0003	0	0.0008	0.0002329	36	154602	rs201922111	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0007	0.0007	0	0.0001	0	7.568e-05	2.143e-05	0.0003	0.0002	0.0001	0.0009	0.0001	0.0001	0.0001	0.0001	0.0008	6.512e-05	5.323e-05	0.0003	0.0002	0	0	0	0	0.0004	0	0	0.0001	0.0005	0.0008	0.006	0.63226	D	0.212	0.30828	T	0.995	0.67487	D	0.607	0.51000	P	0.008098	0.31024	U	0.191212	0.999902	0.50806	D	2.085	0.57729	M	-1.16	0.78427	T	-1.15	0.29933	N	0.353	0.44474	0.055	0.83340	D	0.489	0.80555	T	10	0.10185927	0.18635	T	0.21221	0.87344	D	0.359	0.67962	.	.	0.807009537531	0.80520	0.3950779651247451	0.39422	.	.	0.61456143856	0.54960	T	0.076119	0.35342	T	-0.202928	0.20384	T	-0.160519	0.58306	T	0.0775820159029137	0.09675	T	0.90121	0.65680	D	0.09994512	0.23592	0.15569592	0.36485	0.09994512	0.23592	0.15569592	0.36484	-5.874	0.46381	T	0.6888987233967939	0.76633	0.122	0.27039	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.843219	0.55623	23.6	0.97553973516273185	0.34582	0.93936	0.59622	D	AEFDBCI	0.596250	0.59049	D	0.495979261390396	0.66854	5.004434	0.484759286236825	0.66979	5.023174	0.999999999918634	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.98	4.98	0.65679	3.895000	0.55971	.	.	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:1.0:0.0	17.835	0.88605	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001517	0.000000	0.001359	0.002924	0.000000	0.000000	0.003106	0.000000	0.05	1986.43	108	chr8	143923465	.	G	A	1986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.023;DP=730;ExcessHet=0;FS=4.772;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=1.82;SOR=0.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,55:113:99:0|1:143923465_G_A:1998,0,1989:143923465	9	0	1	0
chr8	143930305	143930305	C	T	intronic	PLEC	.	.	.	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	1	1514	7	0	0	7	0.00230643	0	0.078	.	270274	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|not_provided	MedGen:CN169374|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0008	0	0	0.0045	0	0.0002	0	0.0020	0.0004334	67	154602	rs372799330	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	5.988e-05	0	0	0.0013	0	0.0005	2.704e-05	0.0002	0.0015	0.0001	0.0001	0.0001	0.0001	0.0017	8.161e-05	6.719e-05	0.0009	0.0007	2.405e-05	0	0	0	0.0017	0	0	4.41e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1246.43	75	chr8	143930305	.	C	T	1246.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.82;DP=652;ExcessHet=0;FS=2.566;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.155;SOR=0.998	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1258,0,1089	9	0	1	0
chr8	144515769	144515769	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon6:c.G1253A:p.R418Q	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	834450	Inborn_genetic_diseases|Rothmund-Thomson_syndrome_type_2|Baller-Gerold_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	0.00371905356605	.	.	4.34e-05	0.0002	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs548957135	2.603e-05	2.599e-05	2.181e-05	3.03e-05	0.0002	1.935e-05	1.694e-05	0.0001	8.66e-05	5.975e-05	2.241e-05	0	2.52e-05	0	0.0002	9.896e-06	0.0001	0.0002	3.943e-05	4.597e-05	6.423e-05	1.345e-05	0.0004	1.716e-05	1.13e-05	7.287e-05	3.028e-05	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0.0004	.	.	.	0.645	0.06859	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.15046	.	.	.	.	.	.	.	0.056910813	0.06453	T	0.003719	0.08620	T	.	.	.	.	0.738890521019	0.73655	0.19984213987774022	0.19901	.	.	0.241066366434	0.02887	T	0.003439	0.10790	T	-0.412577	0.01911	T	-0.55098	0.17232	T	.	.	.	0.256274	0.04684	T	0.025363065	0.01466	0.04909124	0.07429	0.0270675	0.01847	0.03750387	0.03416	-2.012	0.03226	T	0.035299970979044165	0.00189	0.06	0.00934	B	.;.	.;.	0.067868	0.04772	1.389	0.53187184362117246	0.04891	0.01964	0.05955	N	AEFGBCI	0.045077	0.07332	N	.	.	.	.	.	.	0.999997527615445	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.330827	0.05736	0	.	.	5.46	0.281	0.14938	0.258000	0.18156	-0.177000	0.11169	-1.457000	0.01087	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1852:0.3452:0.0:0.4696	3.185	0.06203	900	0.24599	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1992.43	34	chr8	144515769	.	C	T	1992.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.61;DP=903;ExcessHet=0;FS=0.609;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.988;SOR=0.79	GT:AD:DP:GQ:PL	0/1:77,74:151:99:2004,0,1751	9	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	11824.1	40	chr9	2622146	.	ACGGCGGCGG	A	11824.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.01;DP=505;ExcessHet=0.0072;FS=1.649;InbreedingCoeff=0.5833;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=33.31;ReadPosRankSum=0.956;SOR=0.585	GT:AD:DP:GQ:PL	0/1:28,16:44:99:579,0,1127	5	0	5	0
chr9	6645448	6645448	C	A	exonic	GLDC	.	nonsynonymous SNV	GLDC:NM_000170:exon1:c.G52T:p.G18C	Glycine encephalopathy, Autosomal recessive	27	1475	18	2	0	22	0.00740242	.	.	.	313206	not_specified|Glycine_encephalopathy|GLDC-related_disorder|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.476	.	.	0.00319489	0.0123	0	0	0	0	0.0192	0.125	0.0086	0.0007633	118	154602	rs535143891	0.0095	0.0081	0.0096	0.0095	0.0101	0.0094	0.0093	0.0099	0.0099	0.0016	0.0032	0.0009	0	0.0222	0.0093	0.0101	0.0069	0.0036	0.0066	0.0066	0.0062	0.0070	0.0094	0.0062	0.0061	0.0088	0.0085	0.0017	0	0.0055	0.0014	0.0002	0.0156	0.0274	0.0094	0.0057	0.0037	0.141	0.25560	T	0.169	0.30534	T	0.975	0.58077	D	0.671	0.53151	P	0.012100	0.29294	N	0.380726	0.739385	0.33805	D	0	0.06538	N	-5.5	0.99147	D	0.01	0.06868	N	0.378	0.41952	0.903	0.95713	D	0.874	0.95827	D	10	0.0070572793	0.00160	T	.	.	.	0.476	0.76816	.	.	.	.	0.4784810235007385	0.47768	0.312158064667	0.33514	0.840447425842	0.88162	D	0.23734	0.60501	T	-0.187909	0.22567	T	-0.0303704	0.68344	D	0.050982793694094	0.05672	T	0.418458	0.11053	T	0.16432393	0.36632	0.07916797	0.17800	0.103731535	0.24519	0.084022224	0.19298	-5.233	0.39275	T	.	.	0.126	0.26576	B	.	.	2.336724	0.29942	18.28	0.99676450093362889	0.78977	0.30879	0.24195	N	AEFDBCI	0.230020	0.35346	N	-0.16275929776004	0.34693	1.983369	-0.177521095942134	0.32366	1.840615	0.999999949464295	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	4.51	3.62	0.40616	0.822000	0.27007	1.611000	0.27635	0.449000	0.21268	0.057000	0.21666	0.393000	0.24673	0.003000	0.05239	0.237:0.6659:0.0:0.0971	5.89	0.18149	882	0.29131	.	.	.	.	.	.	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	0.005333	0.000000	0.010638	0.010417	0.000000	0.000000	0.000000	0.000000	0.05	336.43	29	chr9	6645448	.	C	A	336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.834;DP=230;ExcessHet=0;FS=5.528;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.79;ReadPosRankSum=-2.114;SOR=2.494	GT:AD:DP:GQ:PL	0/1:6,11:17:99:348,0,131	9	0	1	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	0.4	10009.0	34	chr9	34649445	.	A	G	10009.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.72;DP=878;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.25;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.027;SOR=0.688	GT:AD:DP:GQ:PL	0/1:45,32:77:99:781,0,1146	3	1	6	0
chr9	77344204	77344204	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon50:c.G6961A:p.E2321K,VPS13A:NM_001018038:exon51:c.G7078A:p.E2360K,VPS13A:NM_015186:exon51:c.G7078A:p.E2360K,VPS13A:NM_033305:exon51:c.G7078A:p.E2360K	Choreoacanthocytosis, Autosomal recessive	7	1499	15	1	0	17	0.00563847	.	.	YES	313408	VPS13A-related_disorder|Chorea-acanthocytosis|not_provided	.|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.206	0.0254008848318	7.7e-05	.	0.0006	0	8.639e-05	0	0	0.0002	0.0011	0.0034	0.0004463	69	154602	rs370401336	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0002	0.0034	0.0032	0	0	3.831e-05	5.055e-05	0	0.0016	4.411e-05	0.0003	0.0037	0.0001	0.0001	5.144e-05	0.0002	0.0027	8.175e-05	6.73e-05	0.0016	0.0013	0	0	0	0	0	0	0	7.353e-05	0.0005	0.0027	0.109	0.29288	T	0.15	0.40110	T	0.999	0.90584	D	0.939	0.76457	D	0.000001	0.84330	D	0.055231	1	0.81001	D	2.25	0.63811	M	1.53	0.30401	T	-1.13	0.29114	N	0.809	0.82358	-1.0517	0.13926	T	0.140	0.45847	T	10	0.008782804	0.00199	T	0.025401	0.48370	D	0.206	0.49396	.	.	0.651195803754	0.64829	0.6882308993755194	0.68763	0.629044018117	0.56961	0.561564683914	0.47489	T	0.11496	0.43318	T	-0.228054	0.16906	T	-0.103097	0.63156	T	0.127359509468079	0.15136	T	0.906209	0.66975	D	0.18048228	0.39171	0.22905059	0.47965	0.18048228	0.39170	0.22905059	0.47964	-6.019	0.58192	T	.	.	0.086	0.10594	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.195196	0.87139	29.1	0.92037929451987821	0.21379	0.98675	0.85440	D	AEFBI	0.743335	0.68667	D	0.415732734553668	0.62287	4.442098	0.476276528578892	0.66420	4.949937	0.999999997492236	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.96	5.96	0.96695	7.036000	0.76250	9.879000	0.82185	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.382	0.94532	563	0.71062	.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain;.;.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	663.43	33	chr9	77344204	.	G	A	663.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.744;DP=361;ExcessHet=0;FS=1.036;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=0.101;SOR=0.553	GT:AD:DP:GQ:PL	0/1:25,30:55:99:675,0,542	9	0	1	0
chr9	95101611	95101611	T	C	UTR3	FANCC	NM_000136:c.*96A>G;NM_001243743:c.*96A>G	.	.	Fanconi anemia, complementation group C, Autosomal recessive	87	1424	11	0	0	11	0.0038475	.	.	.	902557	Fanconi_anemia_complementation_group_C|not_provided	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0012031	186	154602	rs55687573	0.0091	0.0091	0.0090	0.0093	0.0105	0.0090	0.0089	0.0099	0.0097	0.0010	0.0022	0.0014	0	0.0277	0.0008	0.0093	0.0086	0.0105	0.0085	0.0085	0.0077	0.0093	0.0120	0.0081	0.0080	0.0113	0.0111	0.0012	0.0132	0.0019	0.0014	0.0004	0.0322	0	0.0120	0.0052	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	457.43	34	chr9	95101611	.	T	C	457.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.054;DP=342;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.193;SOR=0.676	GT:AD:DP:GQ:PL	0/1:21,15:36:99:469,0,712	9	0	1	0
chr9	105636493	105636493	A	G	UTR3	FKTN	NM_006731:c.*1229A>G;NM_001351502:c.*1229A>G;NM_001079802:c.*1229A>G;NM_001351497:c.*1229A>G;NM_001351498:c.*1407A>G;NM_001351501:c.*1229A>G;NM_001351496:c.*1229A>G;NM_001351499:c.*1229A>G;NM_001351500:c.*1229A>G	.	.	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	346	1175	0	1	0	2	0.00085034	.	.	.	900778	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4|Dilated_cardiomyopathy_1X	MONDO:MONDO:0009678,MedGen:C0410174,OMIM:253800,Orphanet:272,Orphanet:588,Orphanet:899|MONDO:MONDO:0012704,MedGen:C1969024,OMIM:611615,Orphanet:154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00599042	.	.	.	.	.	.	.	.	0.0020363	53	26028	rs116549376	0.0005	0.0004	0.0006	0.0005	0.0241	0.0005	0.0005	0.0222	0.0214	0.0241	0.0013	0	0.0002	0	0.0006	3.502e-05	0.0011	4.974e-05	0.0065	0.0065	0.0069	0.0060	0.0221	0.0061	0.0060	0.0209	0.0205	0.0221	0	0.0031	0	0	0	0.0068	5.881e-05	0.0043	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	.	.	.	.	.	.	.	.	0.05	259.45	10	chr9	105636493	.	A	G	259.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.97;DP=117;ExcessHet=0;FS=0;InbreedingCoeff=-0.0546;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.62;ReadPosRankSum=0.163;SOR=1.609	GT:AD:DP:GQ:PL	0/1:4,8:12:93:271,0,93	9	0	1	0
chr9	133568656	133568656	G	A	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon15:c.G2142A:p.S714S,ADAMTSL2:NM_014694:exon15:c.G2142A:p.S714S	Geleophysic dysplasia 1, Autosomal recessive	0	1201	295	26	0	347	0.126228	.	.	.	311645	not_specified|Geleophysic_dysplasia_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00315	487	154602	rs11542920	0.0374	0.0374	0.0346	0.0402	0.1108	0.0371	0.0370	0.1090	0.1082	0.0228	0.0220	0.0601	0.0816	0.0235	0.1050	0.0308	0.0399	0.1108	0.0327	0.0327	0.0321	0.0334	0.1063	0.0320	0.0317	0.0987	0.0957	0.0246	0.0230	0.0275	0.0568	0.0623	0.0207	0.0748	0.0320	0.0322	0.1063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3	10159.0	44	chr9	133568656	.	G	A	10159.0	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.21;DP=861;ExcessHet=0.6204;FS=2.487;InbreedingCoeff=0.0476;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.692;SOR=0.874	GT:AD:DP:GQ:PL	0/1:65,46:111:99:1065,0,1517	5	1	4	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	.	.	.	.	.	.	.	.	0.65	14598.0	100	chr9	133569476	.	A	G	14598.0	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.393;DP=849;ExcessHet=1.4371;FS=0.554;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=1.14;SOR=0.615	GT:AD:DP:GQ:PL	0/1:49,27:76:99:662,0,1284	1	4	5	0
chr9	133569488	133569488	C	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.C2325G:p.S775S,ADAMTSL2:NM_014694:exon16:c.C2325G:p.S775S	Geleophysic dysplasia 1, Autosomal recessive	0	1194	298	30	0	358	0.130371	.	.	.	307339	not_specified|Geleophysic_dysplasia_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028719	444	154602	rs2301606	0.0375	0.0376	0.0348	0.0403	0.1106	0.0373	0.0372	0.1087	0.1079	0.0229	0.0219	0.0599	0.0821	0.0235	0.1056	0.0310	0.0403	0.1106	0.0329	0.0329	0.0322	0.0336	0.1062	0.0321	0.0318	0.0986	0.0956	0.0246	0.0230	0.0276	0.0567	0.0634	0.0207	0.0719	0.0323	0.0321	0.1062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3	4771.96	38	chr9	133569488	.	C	G	4771.96	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.11;DP=602;ExcessHet=0.6204;FS=4.069;InbreedingCoeff=0.0476;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.465;SOR=0.473	GT:AD:DP:GQ:PL	0/1:51,26:77:99:579,0,1311	5	1	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	1522.01	7	chr10	8074278	.	G	GA	1522.01	.	AC=16;AF=0.8;AN=20;BaseQRankSum=0.484;DP=84;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.3208;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=24.95;ReadPosRankSum=0;SOR=0.495	GT:AD:DP:GQ:PL	1/1:0,10:10:30:282,30,0	1	7	2	0
chr10	20850403	20850403	G	T	exonic	NEBL	.	nonsynonymous SNV	NEBL:NM_006393:exon11:c.C1108A:p.Q370K	.	424	1095	3	0	0	3	0.00136799	.	.	.	174910	NEBL-related_disorder|Primary_dilated_cardiomyopathy|not_specified|not_provided	.|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.337	0.0216128339977	7.7e-05	0.00179712	0.0010	0	0.0004	0	0	2.998e-05	0.0011	0.0071	0.0008861	137	154602	rs146198369	0.0004	0.0004	0.0003	0.0006	0.0067	0.0004	0.0004	0.0063	0.0061	3.023e-05	0.0002	0	0	0	0.0003	7.298e-06	0.0004	0.0067	0.0002	0.0002	6.426e-05	0.0004	0.0058	0.0002	0.0001	0.0041	0.0036	4.813e-05	0	0.0001	0	0	0	0	1.47e-05	0.0005	0.0058	0.046	0.40573	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.058798	0.995737	0.81001	D	2.8	0.81625	M	0.55	0.54728	T	-3.65	0.69950	D	0.487	0.52119	-0.4560	0.70201	T	0.363	0.72392	T	10	0.011808008	0.00256	T	0.021613	0.44401	T	0.337	0.65913	.	.	0.766946779454	0.76481	0.557365075604494	0.55663	0.0265551599437	0.02714	0.451260536909	0.32116	T	0.16956	0.51698	T	-0.268728	0.11899	T	-0.1552	0.58781	T	0.138007782088624	0.16102	T	0.823718	0.48487	T	0.64151233	0.74911	0.5388201	0.73348	0.64151233	0.74913	0.5388201	0.73348	-10.611	0.77482	D	.	.	0.214	0.44319	B	.	.	4.500152	0.70371	25.5	0.99611285375241365	0.74813	0.96165	0.67831	D	AEFBI	0.920168	0.89174	D	0.819177012656322	0.87289	9.166998	0.785567970590627	0.88770	9.709588	0.570458699236882	0.21488	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.27	5.27	0.73797	7.621000	0.82276	9.796000	0.81670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	18.029	0.89200	907	0.22727	.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	607.43	34	chr10	20850403	.	G	T	607.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.792;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=-0.965;SOR=0.623	GT:AD:DP:GQ:PL	0/1:43,31:74:99:619,0,1069	9	0	1	0
chr10	23193706	23193706	T	C	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon2:c.T787C:p.S263P	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	277	416	362	467	0	1296	0.609023	.	.	.	135501	not_provided|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome|not_specified|Permanent_neonatal_diabetes_mellitus|Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2	MedGen:C3661900|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288|MedGen:CN169374|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.357	.	0.5108	0.624401	0.5470	0.5697	0.7022	0.8903	0.4327	0.4864	0.5430	0.5350	0.523195	80887	154602	rs7918487	0.4938	0.4962	0.4927	0.4948	0.8378	0.4928	0.4924	0.8302	0.8271	0.5601	0.6724	0.5597	0.8378	0.4417	0.6054	0.4672	0.5268	0.5353	0.5240	0.5241	0.5217	0.5264	0.8799	0.5210	0.5197	0.8585	0.8498	0.5578	0.4215	0.5843	0.5542	0.8799	0.4411	0.6327	0.4725	0.5375	0.5558	0.035	0.43708	D	0.009	0.66756	D	0.022	0.18677	B	0.011	0.15521	B	0.000012	0.62929	N	0.068790	0.00248586	0.43951	P	1.18	0.29980	L	-3.56	0.94869	D	-2.27	0.50666	N	0.06	0.03175	-0.9246	0.44915	T	0.000	0.00011	T	9	7.2453116e-07	0.00003	T	.	.	.	0.357	0.67782	.	.	.	.	0.8029689689293238	0.80250	.	.	0.808061718941	0.83195	D	0.245918	0.61529	T	-0.418964	0.01736	T	-0.230769	0.51698	T	0.0349258213578647	0.02795	T	0.630137	0.24490	T	0.42178693	0.62210	0.62976736	0.78405	0.41815445	0.61969	0.6288712	0.78357	-5.729	0.43950	T	0.22715938275925626	0.30707	0.161	0.35643	B	.	.	3.140397	0.42469	21.5	0.98917447264891534	0.48491	0.98167	0.80181	D	AEFDBCI	0.815195	0.73723	D	-0.175553205708038	0.34153	1.946079	-0.064842511773185	0.36855	2.150201	0.999832780372402	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.34	3.02	0.33970	4.083000	0.57365	2.832000	0.35027	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.500000	0.29017	0.0:0.1441:0.0:0.8559	9.307	0.37045	833	0.38804	.	C10orf67|C10orf67|ARMC3|MSRB2|C10orf67|C10orf67|C10orf67|C10orf67	Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	C10orf67	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0.638469	0.611111	0.634511	0.652047	0.450000	0.637931	0.667683	0.609848	0.65	5543.95	37	chr10	23193706	.	T	C	5543.95	.	AC=13;AF=0.65;AN=20;BaseQRankSum=1.47;DP=301;ExcessHet=1.4371;FS=2.628;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=21.24;ReadPosRankSum=0.397;SOR=0.526	GT:AD:DP:GQ:PL	0/1:17,11:28:99:364,0,462	1	4	5	0
chr10	43114671	43114671	G	A	exonic	RET	.	nonsynonymous SNV	RET:NM_001355216:exon8:c.G1309A:p.G437S,RET:NM_020630:exon11:c.G2071A:p.G691S,RET:NM_020975:exon11:c.G2071A:p.G691S	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant	5	773	611	133	0	877	0.361948	.	.	.	36275	Multiple_endocrine_neoplasia_type_2B|not_specified|Renal_hypodysplasia/aplasia_1|Multiple_endocrine_neoplasia,_type_2|Multiple_endocrine_neoplasia_type_2A|Hirschsprung_disease,_susceptibility_to,_1|Multiple_endocrine_neoplasia|Hereditary_cancer-predisposing_syndrome|not_provided|Pheochromocytoma	MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:247709,Orphanet:653|MedGen:CN169374|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709|MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:247698,Orphanet:653|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.207	.	0.1570	0.169129	0.2033	0.1026	0.3688	0.1094	0.2214	0.1887	0.2272	0.2500	0.196938	30447	154602	rs1799939	0.1852	0.1852	0.1834	0.1871	0.3384	0.1846	0.1844	0.3339	0.3320	0.0963	0.3384	0.1988	0.0943	0.2118	0.2536	0.1778	0.1804	0.2569	0.1695	0.1698	0.1662	0.1731	0.2485	0.1678	0.1671	0.2419	0.2392	0.1010	0.1579	0.2485	0.2015	0.1055	0.2299	0.2397	0.1818	0.1795	0.2432	0.178	0.22138	T	0.123	0.35582	T	0.062	0.25884	B	0.007	0.17743	B	0.003826	0.34438	N	0.349618	1	0.08975	P	0.55	0.14455	N	-1.05	0.78082	T	-0.95	0.25332	N	0.045	0.02088	-1.0975	0.04407	T	0.000	0.00039	T	9	0.005253911	0.00115	T	.	.	.	0.207	0.49555	.	.	.	.	0.5028086851049985	0.50202	0.204518158434	0.22873	0.348253011703	0.17664	T	0.423	0.77390	T	-0.557986	0.00261	T	-0.430465	0.29884	T	0.0152077337298967	0.00333	T	0.842016	0.51794	T	0.039440107	0.05446	0.038123365	0.03613	0.03964718	0.05514	0.041703895	0.04799	-0.799	0.00802	T	0.11972520613525756	0.11186	0.073	0.04477	B	.;.	.;.	1.310757	0.17138	12.98	0.85950769653778381	0.16217	0.38801	0.26070	N	AEFDGBCI	0.075412	0.15142	N	-0.84095240757271	0.12273	0.5972382	-0.786731628796562	0.14821	0.77639	0.604377329902492	0.21753	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.75	-1.08	0.09428	4.413000	0.59549	1.794000	0.28824	0.676000	0.76740	1.000000	0.71638	0.910000	0.28117	0.003000	0.05239	0.7374:0.0:0.2626:0.0	9.258	0.36757	856	0.34373	.;.	RASGEF1A|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|RASGEF1A|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid	CSGALNACT2|CSGALNACT2	Artery_Tibial|Nerve_Tibial	rs1799939	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.246224	0.232323	0.247956	0.263158	0.300000	0.250000	0.234756	0.272727	0.3	9641.98	105	chr10	43114671	.	G	A	9641.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=2.37;DP=868;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.166;SOR=0.746	GT:AD:DP:GQ:PL	0/1:53,63:116:99:1521,0,1119	4	0	6	0
chr10	52771475	52771475	C	T	exonic	MBL2	.	nonsynonymous SNV	MBL2:NM_000242:exon1:c.G161A:p.G54D,MBL2:NM_001378373:exon2:c.G161A:p.G54D,MBL2:NM_001378374:exon2:c.G161A:p.G54D	.	417	840	239	26	0	291	0.147641	.	.	.	29389	not_specified|not_provided|Mannose-binding_lectin_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013714,MedGen:C3280586,OMIM:614372	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.728	.	0.1026	0.122005	0.1389	0.0297	0.1677	0.1731	0.1385	0.1459	0.1487	0.1406	0.136693	21133	154602	rs1800450	0.1410	0.1410	0.1409	0.1411	0.1881	0.1405	0.1403	0.1846	0.1831	0.0277	0.1741	0.1373	0.1881	0.1334	0.1189	0.1421	0.1382	0.1408	0.1164	0.1166	0.1139	0.1191	0.1726	0.1150	0.1144	0.1671	0.1649	0.0339	0.1956	0.1726	0.1503	0.1676	0.1467	0.1361	0.1412	0.1237	0.1363	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.001384	0.39175	N	0.117435	0.000104405	0.50595	P	4.29	0.98219	H	-5.77	0.99345	D	-6.1	0.89985	D	0.18	0.19459	-1.2495	0.00008	T	0.185	0.53376	T	9	0.0017509758	0.00022	T	.	.	.	0.728	0.90457	.	.	.	.	0.8229376436818094	0.82250	0.497859118466	0.48274	0.621536254883	0.55947	T	0.723671	0.92210	D	-0.0856461	0.38793	T	0.248019	0.85524	D	0.0679099384046752	0.08356	T	0.973953	0.90669	D	0.8690599	0.88787	0.84412843	0.91112	0.8690599	0.88789	0.81878877	0.89461	-13.651	0.91867	D	0.8926840177459547	0.94682	0.830	0.78746	P	.	.	4.151795	0.62284	24.4	0.99855563460931351	0.93458	0.69099	0.34055	D	AEFBCI	0.348004	0.44228	N	0.885495860096478	0.91031	10.68206	0.721114162042881	0.83984	8.166846	0.999999443880767	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	3.99	0.45527	2.556000	0.45524	4.049000	0.41491	0.599000	0.40250	0.294000	0.25270	0.998000	0.33993	0.937000	0.47636	0.0:1.0:0.0:0.0	11.885	0.51878	901	0.24189	.	MBL2|MBL2	Nerve_Tibial|Testis	.	.	rs1800450	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	0	0	0	0	0.126531	0.118280	0.099455	0.150000	0.222222	0.129310	0.164596	0.131783	0.2	4951.57	108	chr10	52771475	.	C	T	4951.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.662;DP=721;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.863;SOR=0.678	GT:AD:DP:GQ:PL	0/1:69,55:124:99:1189,0,1628	6	0	4	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	.	323868	Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant	Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|.|MedGen:CN239310	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	13217.6	14	chr10	90918983	.	AATAAATAAATATATATAT	A	13217.6	.	AC=11;AF=0.55;AN=20;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=0.8848;MLEAC=12;MLEAF=0.6;MQ=60;QD=30.5;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,45:45:99:1|1:90918983_AATAAATAAATATATATAT_A:2007,136,0:90918983	4	5	1	0
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	6817.14	39	chr10	123053169	.	AT	A	6817.14	.	AC=18;AF=0.9;AN=20;BaseQRankSum=0.912;DP=401;ExcessHet=0.2348;FS=3.841;InbreedingCoeff=-0.1112;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=24.17;ReadPosRankSum=1.51;SOR=1.151	GT:AD:DP:GQ:PL	1/1:2,26:28:31:669,31,0	0	8	2	0
chr11	795060	795060	-	GGTGGA	UTR5	SLC25A22	NM_001191061:c.-55_-54insTCCACC;NM_001191060:c.-55_-54insTCCACC;NM_024698:c.-55_-54insTCCACC	.	.	Epileptic encephalopathy, early infantile, 3, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	322157	not_provided|Early_Infantile_Epileptic_Encephalopathy,_Autosomal_Recessive	MedGen:CN517202|MedGen:CN239237	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0084	0.0103834	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs145401722	0.0009	0.0009	0.0010	0.0009	0.0254	0.0009	0.0008	0.0239	0.0233	0.0254	0.0013	0	0	0.0001	0.0015	0.0002	0.0017	0.0015	0.0073	0.0075	0.0076	0.0069	0.0248	0.0069	0.0068	0.0235	0.0230	0.0248	0	0.0018	0	0	9.409e-05	0.0034	0.0004	0.0052	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	515.39	33	chr11	795060	.	G	GGGTGGA	515.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.654;DP=362;ExcessHet=0;FS=7.038;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-1.647;SOR=2.457	GT:AD:DP:GQ:PL	0/1:20,14:34:99:527,0,799	9	0	1	0
chr11	1247067	1247067	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C10187T:p.T3396M	.	419	1083	19	1	0	21	0.00960219	.	.	.	2839956	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	0.0017518871521	0.0004	.	0.0008	0	0	0	0	0.0009	0.0048	0.0010	0.0002523	39	154602	rs202040871	0.0007	0.0007	0.0007	0.0007	0.0026	0.0007	0.0007	0.0016	0.0013	0.0001	0.0004	0.0050	0.0002	0.0001	0.0026	0.0006	0.0010	0.0010	0.0005	0.0005	0.0005	0.0006	0.0007	0.0004	0.0004	0.0005	0.0004	0.0001	0	0.0007	0.0055	0	0	0	0.0006	0	0.0004	0.045	0.40832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.08	0.20255	T	-0.8	0.22078	N	0.085	0.06190	-1.0148	0.25400	T	0.021	0.08917	T	8	0.0076200366	0.00173	T	0.001752	0.02960	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.31721853306919756	0.31634	.	.	0.190046176314	0.00226	T	0.035152	0.23605	T	-0.666675	0.00057	T	-0.775961	0.02577	T	0.00606447827578364	0.00067	T	0.373163	0.08852	T	0.026398048	0.01691	0.08248823	0.18831	0.026398048	0.01691	0.08248823	0.18831	-8.659	0.65478	D	.	.	0.157	0.34775	B	.	.	0.628555	0.09970	6.725	0.32619299529096396	0.01900	0.01060	0.03938	N	AEFI	0.037577	0.05190	N	-1.42769480789935	0.02398	0.1058429	-1.53570907075174	0.02076	0.09493221	1.14501724228857E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.458	-0.916	0.09956	-0.765000	0.04836	-2.243000	0.04007	-1.341000	0.01203	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	.	.	.	.	.	.	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	0.004122	0.005208	0.006192	0.000000	0.000000	0.000000	0.000000	0.012397	0.05	2628.43	112	chr11	1247067	.	C	T	2628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.476;DP=1247;ExcessHet=0;FS=0.502;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.28;MQRankSum=0.932;QD=12.34;ReadPosRankSum=0.954;SOR=0.708	GT:AD:DP:GQ:PL	0/1:97,116:213:99:2640,0,2201	9	0	1	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	21	72	439	990	0	2419	0.943816	.	.	.	326978	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	.	.	.	.	.	.	.	.	0.8	32857.4	148	chr11	2159830	.	T	G	32857.4	.	AC=16;AF=0.8;AN=20;BaseQRankSum=1.5;DP=1555;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=21.6;ReadPosRankSum=0.615;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,115:115:99:.:.:3330,345,0:.	0	6	4	0
chr11	17386478	17386478	A	G	UTR3	KCNJ11	NM_001166290:c.*441T>C;NM_000525:c.*441T>C;NM_001377297:c.*441T>C;NM_001377296:c.*441T>C	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	1026	376	50	70	0	190	0.201699	.	.	.	326654	Maturity-onset_diabetes_of_the_young_type_13|Type_2_diabetes_mellitus|not_provided|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.46885	.	.	.	.	.	.	.	.	0.0682527	10552	154602	rs2285676	0.3367	0.1870	0.3337	0.3395	0.5065	0.3296	0.3267	0.4534	0.4328	0.5065	0.3326	0.2651	0.4716	0.2585	0.3667	0.3227	0.3371	0.2928	0.4342	0.4345	0.4324	0.4362	0.5705	0.4315	0.4303	0.5645	0.5619	0.5705	0.3062	0.3914	0.3000	0.5583	0.3666	0.4048	0.3763	0.4028	0.3654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	32.88	.	chr11	17386478	.	A	G	32.88	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:34:40,0,34	5	0	1	4
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	9	194	657	662	0	1981	0.836218	.	.	.	319487	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	.	.	.	.	.	.	.	.	0.65	14318.0	59	chr11	17386857	.	C	T	14318.0	.	AC=13;AF=0.65;AN=20;BaseQRankSum=0.772;DP=691;ExcessHet=1.4371;FS=4.229;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=23.09;ReadPosRankSum=-0.153;SOR=1.068	GT:AD:DP:GQ:PL	0/1:26,26:52:99:628,0,530	1	4	5	0
chr11	17387284	17387284	G	C	exonic	KCNJ11	.	nonsynonymous SNV	KCNJ11:NM_000525:exon1:c.C808G:p.L270V,KCNJ11:NM_001166290:exon2:c.C547G:p.L183V,KCNJ11:NM_001377297:exon2:c.C547G:p.L183V,KCNJ11:NM_001377296:exon3:c.C547G:p.L183V	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	0	1417	101	4	0	109	0.037037	.	.	YES	168866	not_specified|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_2|Hyperinsulinemic_hypoglycemia,_familial,_2|not_provided|Monogenic_diabetes|Maturity-onset_diabetes_of_the_young_type_13|Permanent_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_3	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030087,MedGen:C5394296,OMIM:618856|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.344	.	0.0334	0.0151757	0.0374	0.0068	0.0234	0.0002	0.1132	0.0482	0.0617	0.0103	0.036526	5647	154602	rs1800467	0.0405	0.0405	0.0408	0.0402	0.0419	0.0402	0.0401	0.0416	0.0415	0.0066	0.0301	0.0613	2.519e-05	0.1076	0.0411	0.0419	0.0412	0.0109	0.0373	0.0373	0.0350	0.0397	0.0452	0.0365	0.0362	0.0438	0.0433	0.0079	0.0636	0.0413	0.0599	0	0.1143	0.0782	0.0452	0.0521	0.0081	0.088	0.32296	T	0.416	0.15746	T	.	.	.	.	.	.	0.000688	0.42383	D	0.160775	0.991748	0.41463	D	.	.	.	-3.5	0.94658	D	-0.9	0.26422	N	0.044	0.02658	-0.3131	0.74617	T	0.266	0.63706	T	10	0.001799047	0.00024	T	.	.	.	0.344	0.66582	.	.	.	.	0.5417257799796866	0.54097	0.625028188271	0.56690	0.457660079002	0.32989	T	.	.	.	-0.268952	0.11873	T	-0.122601	0.61588	T	0.00236025612768546	0.00024	T	0.905909	0.66829	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08851	B	.;.	.;.	2.176571	0.27743	17.56	0.95030406075164098	0.26025	0.80152	0.39866	D	AEFGBCI	0.509813	0.53912	D	-0.165714840895137	0.34568	1.974698	-0.010721070326483	0.39230	2.322853	0.999999939325509	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.43	5.43	0.79006	1.140000	0.31128	3.047000	0.36105	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.530000	0.29707	0.1558:0.0:0.6647:0.1794	5.508	0.16156	590	0.68897	.;.	KCNJ11|KCNJ11	Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic	.	.	.	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	0.041793	0.080808	0.043478	0.026316	0.100000	0.051724	0.042683	0.007576	0.1	3958.14	125	chr11	17387284	.	G	C	3958.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.28;DP=1112;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.888;SOR=0.673	GT:AD:DP:GQ:PL	0/1:89,65:154:99:1593,0,2163	8	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	10422.0	57	chr11	17395957	.	A	G	10422.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=1.18;DP=508;ExcessHet=0.3701;FS=2.526;InbreedingCoeff=0.1667;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=25.23;ReadPosRankSum=0.033;SOR=1	GT:AD:DP:GQ:PL	0/1:20,15:35:99:411,0,558	2	4	4	0
chr11	17408375	17408375	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	314	660	541	0	1742	0.735021	.	.	.	167542	not_specified|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6088	0.614617	0.6125	0.6167	0.7059	0.7429	0.5248	0.6255	0.6038	0.46	0.601991	93069	154602	rs2106865	0.6116	0.6114	0.6155	0.6077	0.7147	0.6106	0.6101	0.7077	0.7048	0.6184	0.6958	0.6590	0.7147	0.5287	0.6211	0.6176	0.6245	0.4682	0.6174	0.6175	0.6250	0.6094	0.7228	0.6140	0.6127	0.7034	0.6955	0.6148	0.7252	0.6494	0.6653	0.7228	0.5244	0.6918	0.6235	0.6340	0.4757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4435.94	36	chr11	17408375	.	T	C	4435.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.1;DP=433;ExcessHet=0.3701;FS=2.105;InbreedingCoeff=0.1667;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-1.434;SOR=0.853	GT:AD:DP:GQ:PL	1/1:0,33:33:99:1013,99,0	4	2	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	1386.14	9	chr11	17414293	.	A	G	1386.14	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.383;DP=74;ExcessHet=0;FS=0;InbreedingCoeff=0.7347;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=30.8;ReadPosRankSum=1.38;SOR=2.494	GT:AD:DP:GQ:PL	1/1:0,5:5:15:147,15,0	3	6	1	0
chr11	17414389	17414389	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	87	248	463	724	0	1911	0.793934	.	.	.	1166872	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	0.146059	22581	154602	rs4148631	0.7539	0.7531	0.7539	0.7539	0.8624	0.7526	0.7521	0.8546	0.8514	0.5784	0.8469	0.7895	0.8624	0.7273	0.7046	0.7512	0.7604	0.7470	0.7155	0.7155	0.7141	0.7170	0.8819	0.7120	0.7105	0.8605	0.8518	0.5817	0.8136	0.7993	0.7954	0.8819	0.7282	0.7415	0.7540	0.7427	0.7632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	4993.96	24	chr11	17414389	.	G	A	4993.96	.	AC=11;AF=0.55;AN=20;BaseQRankSum=1.21;DP=259;ExcessHet=0.0657;FS=0;InbreedingCoeff=0.3939;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=28.7;ReadPosRankSum=-0.578;SOR=0.793	GT:AD:DP:GQ:PL	1/1:0,18:18:54:701,54,0	3	4	3	0
chr11	17414419	17414419	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	19	213	530	760	0	2050	0.827948	.	.	.	1166873	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	7646.96	40	chr11	17414419	.	G	A	7646.96	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.596;DP=400;ExcessHet=0.0657;FS=3.149;InbreedingCoeff=0.3939;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=26.28;ReadPosRankSum=-0.888;SOR=0.998	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1202,108,0	3	4	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	14104.9	33	chr11	17415389	.	A	G	14104.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.635;DP=637;ExcessHet=0;FS=0;InbreedingCoeff=0.7802;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=27.02;ReadPosRankSum=0.399;SOR=0.611	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1603,170,0	3	6	1	0
chr11	17463424	17463424	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	597	684	234	0	1152	0.491049	.	.	.	167555	Permanent_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Type_2_diabetes_mellitus|not_provided|not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4870	0.467452	0.4604	0.7151	0.4818	0.4464	0.4098	0.4555	0.4456	0.3192	0.372013	57514	154602	rs2301703	0.3874	0.3872	0.3905	0.3843	0.7153	0.3865	0.3862	0.7077	0.7046	0.7153	0.4086	0.4696	0.3885	0.2994	0.4663	0.3843	0.4145	0.2911	0.4703	0.4705	0.4769	0.4636	0.7012	0.4675	0.4663	0.6944	0.6916	0.7012	0.3910	0.4287	0.4772	0.4001	0.2910	0.5340	0.3849	0.4706	0.2955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	11781.2	186	chr11	17463424	.	G	A	11781.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.03;DP=1112;ExcessHet=2.8389;FS=1.796;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.185;SOR=0.828	GT:AD:DP:GQ:PL	0/1:72,83:155:99:2007,0,1611	5	0	5	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	0.55	33224.0	208	chr11	17474969	.	A	G	33224.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-2.05;DP=2297;ExcessHet=5.1594;FS=0;InbreedingCoeff=-0.4141;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.455;SOR=0.703	GT:AD:DP:GQ:PL	0/1:124,118:242:99:2808,0,2954	1	2	7	0
chr11	46871604	46871604	C	T	exonic	LRP4	.	nonsynonymous SNV	LRP4:NM_002334:exon31:c.G4613A:p.R1538Q	Cenani-Lenz syndactyly syndrome, Autosomal recessive;Sclerosteosis 2, Autosomal recessive, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	314218	not_provided|Cenani-Lenz_syndactyly_syndrome|Sclerosteosis_2|Congenital_myasthenic_syndrome_17|Bone_Mineral_Density_Variation|LRP4-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orphanet:3258|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305,Orphanet:3152|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304,Orphanet:590|MedGen:CN239274|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.797	.	0.0002	0.00219649	0.0023	0.0003	0.0004	0	0.0006	0.0002	0	0.0156	0.0017011	263	154602	rs140495790	0.0009	0.0009	0.0005	0.0012	0.0128	0.0008	0.0008	0.0122	0.0120	8.966e-05	0	0	2.522e-05	0.0006	0.0009	3.149e-05	0.0011	0.0128	0.0005	0.0005	0.0003	0.0007	0.0125	0.0004	0.0004	0.0099	0.0090	7.222e-05	0	6.539e-05	0	0	0.0006	0	8.819e-05	0.0005	0.0125	0.007	0.59928	D	0.02	0.58613	D	1.0	0.90584	D	0.992	0.80445	D	0.000006	0.62929	D	0.061561	1	0.81001	D	1.93	0.51437	L	-3.9	0.96015	D	-2.22	0.49846	N	0.727	0.72835	0.990	0.97019	D	0.916	0.97223	D	10	0.019691497	0.00443	T	.	.	.	0.797	0.93346	.	.	0.886708237902	0.88559	0.7586441953864115	0.75812	1.4798634796	0.86686	0.682887196541	0.64684	T	0.665081	0.89995	D	0.14101	0.68421	D	0.441451	0.93360	D	0.129605070929529	0.15345	T	0.984502	0.94671	D	0.40229258	0.60891	0.32973856	0.58850	0.40229258	0.60891	0.32973856	0.58849	-7.871	0.60187	D	.	.	0.448	0.62102	A	.	.	5.473290	0.91297	32	0.99951937154161119	0.99951	0.97788	0.77138	D	AEFBI	0.757551	0.69647	D	0.804207853945373	0.86369	8.863184	0.799868204473316	0.89783	10.11992	0.99999994946712	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.81	5.81	0.92413	5.931000	0.69831	7.608000	0.61804	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.078	0.97757	12	0.98946	.	.	.	.	.	.	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	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	758.43	35	chr11	46871604	.	C	T	758.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.153;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.082;SOR=0.593	GT:AD:DP:GQ:PL	0/1:36,34:70:99:770,0,785	9	0	1	0
chr11	65557854	65557854	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.105_106insCTGCTG:p.L35_G36insLL,LTBP3:NM_021070:exon1:c.105_106insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	390556	not_specified|Geleophysic_dysplasia_3|Brachyolmia-amelogenesis_imperfecta_syndrome	MedGen:CN169374|MONDO:MONDO:0054722,MedGen:C4540511,OMIM:617809|MONDO:MONDO:0011018,MedGen:C1832594,OMIM:601216,Orphanet:2899	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0517173	0.0922	0.0185	0.0385	0	0.0234	0.1274	0.1071	0.0908	0.0029172	451	154602	rs535365850	0.1577	0.1430	0.1586	0.1569	0.1715	0.1571	0.1569	0.1708	0.1705	0.0412	0.1142	0.1239	0.0536	0.0926	0.1486	0.1715	0.1411	0.0804	0.1243	0.1253	0.1302	0.1180	0.1808	0.1228	0.1222	0.1781	0.1770	0.0497	0.2698	0.1236	0.1428	0.0282	0.0948	0.2063	0.1808	0.1207	0.0933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1116.41	36	chr11	65557854	.	C	CCAGCAG	1116.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.652;DP=362;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=0.247;SOR=0.836	GT:AD:DP:GQ:PL	0/1:8,10:18:99:384,0,307	7	0	3	0
chr11	78101029	78101029	C	T	exonic	ALG8	.	nonsynonymous SNV	ALG8:NM_024079:exon13:c.G1516A:p.A506T	Congenital disorder of glycosylation, type Ih	0	1508	14	0	0	14	0.00462046	.	.	.	868843	ALG8_congenital_disorder_of_glycosylation|ALG8-related_disorder	MONDO:MONDO:0011969,MedGen:C2931002,OMIM:608104,Orphanet:79325|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.102	0.0348861890714	0.0003	0.000998403	0.0005	9.625e-05	0.0006	0.0001	0	0.0002	0.0022	0.0019	0.0004398	68	154602	rs149692072	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0017	0.0015	0	0.0005	3.826e-05	2.519e-05	0	0.0028	8.004e-05	0.0003	0.0018	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	2.406e-05	0	0.0001	0	0	0	0.0034	0.0001	0.0005	0.0027	0.671	0.32929	T	0.293	0.20811	T	0.007	0.14184	B	0.033	0.22329	B	0.002315	0.36806	N	0.300661	0.999298	0.81001	D	1.725	0.44537	L	-1.74	0.83413	D	-0.73	0.29323	N	0.215	0.24010	-0.6916	0.60833	T	0.250	0.61912	T	10	0.02481255	0.00696	T	0.034886	0.55978	D	0.482	0.77206	.	.	0.888515215165	0.88741	0.3929556972325702	0.39210	0.161159105999	0.18189	0.417583346367	0.27505	T	0.156684	0.49896	T	-0.227984	0.16915	T	-0.11349	0.62332	T	0.0133918986548091	0.00242	T	0.842016	0.51794	T	0.068263814	0.14856	0.08404729	0.19305	0.087290436	0.20320	0.08441477	0.19418	-7.074	0.54573	T	0.1575883449238142	0.19039	0.106	0.27910	B	.;.	.;.	2.614910	0.33970	19.49	0.93343155844953485	0.23075	0.87664	0.47279	D	AEFDBCI	0.333900	0.43284	N	0.156583891975323	0.49124	3.116352	0.195561650432476	0.49602	3.161542	0.999998618531933	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.95	4.01	0.45821	1.304000	0.33087	3.303000	0.37399	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	1.000000	0.97212	0.3254:0.6746:0.0:0.0	12.583	0.55752	617	0.66297	.;.	.	.	.	.	.	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	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1346.43	36	chr11	78101029	.	C	T	1346.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.085;DP=469;ExcessHet=0;FS=1.463;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.625;SOR=0.562	GT:AD:DP:GQ:PL	0/1:62,57:119:99:1358,0,1546	9	0	1	0
chr11	89178528	89178528	C	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon1:c.C575A:p.S192Y	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	0	682	633	207	0	1047	0.43426	.	.	YES	18817	Oculocutaneous_albinism|not_provided|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1A|Oculocutaneous_albinism_type_1B|not_specified|Albinism_or_congenital_nystagmus	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|MedGen:C3661900|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	0.2748	0.123403	0.2518	0.0620	0.1918	0.0008	0.1818	0.3663	0.2907	0.1085	0.261019	40354	154602	rs1042602	0.3220	0.3220	0.3252	0.3188	0.3670	0.3213	0.3209	0.3661	0.3657	0.0507	0.2157	0.4485	0.0009	0.1815	0.3226	0.3670	0.3000	0.1142	0.2419	0.2419	0.2523	0.2311	0.3651	0.2398	0.2390	0.3613	0.3597	0.0668	0.3425	0.2714	0.4547	0.0023	0.1828	0.4048	0.3651	0.3011	0.0986	0.031	0.45039	D	0.003	0.76473	D	0.997	0.70673	D	0.974	0.73157	D	0.000008	0.62929	D	0.065875	0.999508	0.21084	P	1.845	0.48678	L	-5.1	0.98700	D	-2.79	0.59059	D	0.382	0.42345	-1.7843	0.00000	T	0.000	0.00039	T	8	0.0053822994	0.00118	T	.	.	.	0.355	0.67600	.	.	.	.	0.6892773878264551	0.68867	0.0688238525608	0.07705	0.439628481865	0.30526	T	0.88496	0.97618	D	-0.260349	0.12860	T	-0.00292912	0.70146	D	0.0152115171034676	0.00334	T	0.744526	0.36463	T	0.16305736	0.36423	0.21538205	0.46125	0.19196893	0.40846	0.22641657	0.47618	-9.607	0.71523	D	0.3624652220777897	0.45877	0.135	0.29228	B	.	.	4.082595	0.60747	24.3	0.99333304920791965	0.59856	0.86225	0.45465	D	AEFBI	0.785702	0.71601	D	0.494697286576891	0.66780	4.99452	0.417875167062087	0.62678	4.48737	0.993650488775012	0.33302	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	4.505000	0.60141	5.876000	0.50589	0.599000	0.40250	0.420000	0.26330	1.000000	0.68203	0.864000	0.41028	0.1393:0.8607:0.0:0.0	15.385	0.74410	864	0.32732	Tyrosinase copper-binding domain	CBX3P7|CTSC	Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs1042602	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.325780	0.454545	0.342391	0.146199	0.200000	0.310345	0.426829	0.234848	0.3	21450.0	286	chr11	89178528	.	C	A	21450.0	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.916;DP=1517;ExcessHet=0.6204;FS=0.536;InbreedingCoeff=0.0476;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=1.22;SOR=0.771	GT:AD:DP:GQ:PL	0/1:132,140:272:99:3569,0,3467	5	1	4	0
chr11	108304660	108304660	G	C	intronic	ATM	.	.	.	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	26	1486	10	0	0	10	0.00335345	.	.	.	140149	Hereditary_breast_ovarian_cancer_syndrome|not_provided|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Ataxia-telangiectasia_syndrome|Breast_and/or_ovarian_cancer|Malignant_tumor_of_breast|not_specified	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN221562|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0030	0.00219649	0.0041	0.0007	0.0012	0.0001	0.0099	0.0043	0.0160	0.0063	0.0039262	607	154602	rs3092828	0.0052	0.0052	0.0051	0.0053	0.0067	0.0051	0.0051	0.0062	0.0061	0.0008	0.0017	0.0039	2.522e-05	0.0114	0.0024	0.0053	0.0042	0.0067	0.0038	0.0038	0.0038	0.0038	0.0062	0.0035	0.0034	0.0050	0.0048	0.0007	0	0.0014	0.0038	0.0002	0.0101	0	0.0054	0.0014	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	904.43	40	chr11	108304660	.	G	C	904.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.175;DP=370;ExcessHet=0;FS=1.27;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=-2.567;SOR=0.441	GT:AD:DP:GQ:PL	0/1:17,35:52:99:916,0,428	9	0	1	0
chr11	124879559	124879559	G	A	exonic	ROBO3	.	synonymous SNV	ROBO3:NM_001370361:exon7:c.G927A:p.R309R,ROBO3:NM_001370366:exon7:c.G732A:p.R244R,ROBO3:NM_001370358:exon8:c.G927A:p.R309R,ROBO3:NM_001370359:exon8:c.G927A:p.R309R,ROBO3:NM_001370364:exon8:c.G732A:p.R244R,ROBO3:NM_001370356:exon9:c.G927A:p.R309R,ROBO3:NM_001370357:exon9:c.G927A:p.R309R,ROBO3:NM_022370:exon25:c.G3780A:p.R1260R	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	319118	not_provided|Gaze_palsy,_familial_horizontal,_with_progressive_scoliosis_1	MedGen:C3661900|MONDO:MONDO:0020790,MedGen:C4551964,OMIM:607313,Orphanet:2744	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0003	0.0001	0.0003	0	0	0.0005	0.0012	0.0001	0.0002264	35	154602	rs369974414	0.0005	0.0005	0.0005	0.0005	0.0024	0.0005	0.0005	0.0015	0.0012	0.0001	0.0003	3.828e-05	0	0	0.0024	0.0006	0.0004	0.0003	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	0.0003	0	0.0008	0	0	0	0	0.0005	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.003021	0.000000	0.000000	0.011696	0.000000	0.008621	0.000000	0.003788	0.05	1209.43	33	chr11	124879559	.	G	A	1209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.14;DP=430;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.134;SOR=0.711	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1221,0,1346	9	0	1	0
chr12	6936729	6936749	CAGCAGCAGCAGCAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1462_1482del:p.Q496_Q502del,ATN1:NM_001940:exon5:c.1462_1482del:p.Q496_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	129	452	137	68	736	1009	0.231946	.	.	.	905935	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs1183228329	0.1140	0.1129	0.1133	0.1147	0.2024	0.1135	0.1133	0.1928	0.1889	0.0599	0.0711	0.1307	0.0196	0.0770	0.2024	0.1208	0.1141	0.1206	0.0965	0.0952	0.0980	0.0949	0.1252	0.0952	0.0946	0.1187	0.1178	0.0594	0.1881	0.0938	0.1362	0.0278	0.0722	0.2083	0.1209	0.1186	0.1252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	9342.27	64	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	A	9342.27	.	AC=3;AF=0.167;AN=18;BaseQRankSum=0.394;DP=728;ExcessHet=0.0125;FS=0;InbreedingCoeff=0.5286;MLEAC=3;MLEAF=0.167;MQ=59.97;MQRankSum=0;QD=31.56;ReadPosRankSum=-0.501;SOR=0.667	GT:AD:DP:GQ:PL	0/1:36,23:59:99:848,0,1437	6	0	3	1
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374648:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374649:exon1:c.136_147del:p.E48_S51del,PEX5:NM_000319:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131023:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001131024:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131025:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001300789:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351124:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351126:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351128:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351130:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351131:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351132:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351134:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351135:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351136:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351137:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351138:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351139:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374645:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374646:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131026:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351127:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351133:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351140:exon3:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	0	177	7	42	0	91	0.204494	.	.	.	778118	Peroxisome_biogenesis_disorder_2B|Rhizomelic_chondrodysplasia_punctata_type_5|not_specified|Peroxisome_biogenesis_disorder_2A_(Zellweger)|not_provided	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MedGen:CN169374|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.268e-05	0.0004	0	0	0	1.945e-05	0	0	3.84e-05	1	26028	rs757612863	0.2520	0.2523	0.2418	0.2624	0.7201	0.2513	0.2511	0.7131	0.7102	0.2717	0.3801	0.4508	0.7201	0.5171	0.2871	0.1987	0.3556	0.3579	0.5401	0.6749	0.5600	0.5186	0.6619	0.5362	0.5345	0.6379	0.6282	0.4367	0.4674	0.5855	0.6481	0.6619	0.4898	0.5586	0.6009	0.5226	0.2956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	4980.87	23	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	4980.87	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.354;DP=562;ExcessHet=0;FS=1.059;InbreedingCoeff=0.7802;MLEAC=13;MLEAF=0.65;MQ=59.55;MQRankSum=-2.282;QD=32.67;ReadPosRankSum=-1.401;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,15:15:57:659,57,0	3	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5417.14	65	chr12	21174718	.	T	TA	5417.14	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.14;DP=575;ExcessHet=1.0516;FS=1.524;InbreedingCoeff=0.0588;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.046;SOR=0.605	GT:AD:DP:GQ:PL	1/0:0,26:34:94:803,192,94	3	1	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	2892.97	14	chr12	47845054	.	C	A	2892.97	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.247;DP=167;ExcessHet=2.8549;FS=0.74;InbreedingCoeff=-0.2499;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=19.95;ReadPosRankSum=-0.556;SOR=0.831	GT:AD:DP:GQ:PL	1/1:0,15:15:45:517,45,0	1	3	6	0
chr12	47879112	47879112	A	G	exonic	VDR	.	startloss	VDR:NM_001374662:exon2:c.T2C:p.M1?,VDR:NM_000376:exon3:c.T2C:p.M1?,VDR:NM_001017536:exon3:c.T152C:p.M51T,VDR:NM_001374661:exon3:c.T2C:p.M1?,VDR:NM_001017535:exon4:c.T2C:p.M1?	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	6	103	520	893	0	2306	0.917994	.	.	YES	331088	Periodontitis|not_provided|not_specified|Vitamin_D-dependent_rickets_type_II_with_alopecia	Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.503	.	0.6732	0.671526	0.6376	0.7880	0.5203	0.5448	0.6403	0.6138	0.6512	0.7671	0.62549	96702	154602	rs2228570	0.6253	0.6253	0.6210	0.6296	0.7904	0.6242	0.6238	0.7824	0.7791	0.7904	0.5345	0.5612	0.5913	0.6341	0.7321	0.6142	0.6362	0.7660	0.6621	0.6625	0.6611	0.6633	0.7801	0.6587	0.6573	0.7730	0.7701	0.7801	0.7368	0.5776	0.5716	0.5697	0.6440	0.6939	0.6163	0.6895	0.7391	0.0	0.91255	D	0.013	0.63109	D	0.289	0.32288	B	0.275	0.40079	B	0.000031	0.55875	D	0.149012	0.989818	0.81001	P	.	.	.	-3.24	0.93882	D	0.36	0.09460	N	0.34	0.38129	-0.9252	0.44829	T	0.000	0.00011	T	8	8.306137e-06	0.00003	T	.	.	.	0.503	0.78538	.	.	.	.	0.3450707945471	0.34421	0.570787460381	0.53228	0.625708281994	0.56536	T	0.324761	0.69555	T	-0.283926	0.10255	T	-0.036796	0.67917	D	0.0963817504551405	0.11954	T	0.9	0.65058	D	0.68792903	0.77399	0.63474244	0.78679	0.6637955	0.76103	0.5718023	0.75203	-7.866	0.60153	D	.	.	0.232	0.46516	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.762546	0.36239	20.2	0.99030006853180141	0.50786	0.91887	0.54478	D	AEFDBI	0.433632	0.49501	N	0.245728946061445	0.53428	3.511683	0.278389843584115	0.54280	3.593452	0.999289017433705	0.39007	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.58	2.89	0.32713	4.354000	0.59193	6.099000	0.53531	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.8342:0.0:0.1658:0.0	9.950	0.40804	884	0.28482	.;.;.;.;.;.;.	RP1-228P16.1	Spleen	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.734642	0.696970	0.716033	0.745614	0.450000	0.810345	0.768293	0.768939	0.8	15331.4	80	chr12	47879112	.	A	G	15331.4	.	AC=16;AF=0.8;AN=20;BaseQRankSum=0.034;DP=717;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=22.45;ReadPosRankSum=-0.417;SOR=0.747	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1738,186,0	0	6	4	0
chr12	66539151	66539151	G	A	exonic	GRIP1	.	synonymous SNV	GRIP1:NM_001178074:exon4:c.C345T:p.D115D,GRIP1:NM_001366722:exon4:c.C345T:p.D115D,GRIP1:NM_001366723:exon4:c.C423T:p.D141D,GRIP1:NM_001366724:exon4:c.C423T:p.D141D,GRIP1:NM_001379345:exon4:c.C423T:p.D141D,GRIP1:NM_001379346:exon4:c.C345T:p.D115D,GRIP1:NM_001379347:exon4:c.C423T:p.D141D,GRIP1:NM_001379348:exon4:c.C423T:p.D141D,GRIP1:NM_001379349:exon4:c.C348T:p.D116D,GRIP1:NM_001379351:exon4:c.C348T:p.D116D,GRIP1:NM_021150:exon4:c.C345T:p.D115D	Fraser syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	326472	Fraser_syndrome_3|not_provided	MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	0.0003	0	0	0.0001	0	0.0002	0.0001164	18	154602	rs760613522	8.141e-05	8.209e-05	9.529e-05	6.738e-05	0.0005	6.935e-05	6.486e-05	0.0004	0.0003	2.987e-05	0.0005	0	0	0	0.0005	6.565e-05	0.0002	0.0001	9.863e-05	9.851e-05	0.0001	9.424e-05	0.0003	6.011e-05	4.883e-05	8.887e-05	5.393e-05	7.25e-05	0	0.0003	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	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1411.43	35	chr12	66539151	.	G	A	1411.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.165;DP=451;ExcessHet=0;FS=1.488;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.262;SOR=0.909	GT:AD:DP:GQ:PL	0/1:57,59:116:99:1423,0,1320	9	0	1	0
chr12	114684071	114684071	-	GAGA	UTR5	TBX3	NM_016569:c.-872_-871insTCTC;NM_005996:c.-872_-871insTCTC	.	.	Ulnar-mammary syndrome, Autosomal dominant	183	10	1	20	12	53	0.672131	.	.	.	329647	Ulnar-mammary_syndrome|not_provided|TBX3-related_disorder	MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.531749	.	.	.	.	.	.	.	.	0.000461	12	26028	rs112192237	0.3711	0.0814	0.3707	0.3715	0.4265	0.3674	0.3658	0.4036	0.3945	0.1648	0.4265	0.4241	0.3475	0.3793	0.4067	0.3834	0.3747	0.3964	0.4430	0.4427	0.4419	0.4441	0.6223	0.4401	0.4390	0.6117	0.6074	0.1855	0.3440	0.6223	0.6177	0.4456	0.4555	0.6092	0.5353	0.5029	0.5668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	297.24	2	chr12	114684071	.	G	GGAGA	297.24	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.967;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=29.72;ReadPosRankSum=0.967;SOR=0.525	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	4	1	0	5
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	0.55	13177.0	100	chr12	120978819	.	C	G	13177.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=1.19;DP=976;ExcessHet=5.1594;FS=1.096;InbreedingCoeff=-0.4141;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.057;SOR=0.636	GT:AD:DP:GQ:PL	0/1:52,35:87:99:856,0,1281	1	2	7	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	363	726	432	0	1590	0.686528	0	0.002	.	134677	Maturity_onset_diabetes_mellitus_in_young|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Type_2_diabetes_mellitus|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	17939.0	33	chr12	120997672	.	G	A	17939.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.13;DP=1215;ExcessHet=2.8549;FS=0.538;InbreedingCoeff=-0.25;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=16.58;ReadPosRankSum=-0.506;SOR=0.775	GT:AD:DP:GQ:PL	0/1:53,77:130:99:1946,0,1265	3	1	6	0
chr13	51947999	51947999	C	T	intronic	ATP7B	.	.	.	Wilson disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2743705	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs915988161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.942e-05	3.94e-05	6.421e-05	1.345e-05	0.0003	1.715e-05	1.129e-05	8.877e-05	5.386e-05	0	0	0.0003	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	352.43	34	chr13	51947999	.	C	T	352.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=272;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.78;ReadPosRankSum=-0.782;SOR=1.061	GT:AD:DP:GQ:PL	0/1:9,12:21:99:364,0,232	9	0	1	0
chr13	113118845	113118845	G	A	exonic	F7	.	nonsynonymous SNV	F7:NM_001267554:exon6:c.G986A:p.R329Q,F7:NM_019616:exon8:c.G1172A:p.R391Q,F7:NM_000131:exon9:c.G1238A:p.R413Q	Factor VII deficiency, Autosomal recessive	0	910	520	92	0	704	0.278922	.	.	YES	27119	not_provided|not_specified|Factor_VII_deficiency|Myocardial_infarction,_decreased_susceptibility_to|Factor_X_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0002244,MeSH:D005168,MedGen:C0015503|.|MONDO:MONDO:0002247,MeSH:D005171,MedGen:C0015519	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	.	0.11	0.138379	0.1341	0.1259	0.1018	0.0533	0.0751	0.1210	0.1437	0.2757	0.125995	19479	154602	rs6046	0.1165	0.1164	0.1107	0.1223	0.2761	0.1160	0.1158	0.2732	0.2720	0.1225	0.1074	0.1911	0.0599	0.0736	0.2135	0.1056	0.1239	0.2761	0.1163	0.1164	0.1162	0.1165	0.2740	0.1149	0.1143	0.2618	0.2568	0.1210	0.1725	0.1158	0.2056	0.0477	0.0697	0.1803	0.1088	0.1317	0.2740	0.228	0.26519	T	0.165	0.30926	T	0.254	0.32525	B	0.005	0.13708	B	0.521729	0.11734	N	0.744753	1	0.08975	P	0.615	0.15706	N	-1.51	0.81399	D	-1.16	0.29727	N	0.085	0.06190	-1.1082	0.03229	T	0.005	0.01688	T	9	0.003981173	0.00077	T	.	.	.	0.188	0.46444	.	.	.	.	0.4174972918572176	0.41665	0.218615771125	0.24401	0.259455680847	0.04827	T	0.414242	0.76786	T	-0.531236	0.00378	T	-0.39204	0.34312	T	0.0032045131440866	0.00034	T	0.60024	0.22396	T	0.28302434	0.51337	0.20696844	0.44935	0.22008178	0.44555	0.15338038	0.36043	-4.203	0.26795	T	0.14956450594880755	0.17500	0.070	0.05060	B	.;.;.	.;.;.	0.864100	0.12365	8.904	0.9372641218980059	0.23653	0.01261	0.04425	N	AEFDBI	0.454247	0.50704	N	-1.30176004106169	0.03655	0.1636765	-1.42064976557785	0.03046	0.1413473	0.992292572482251	0.32788	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.11	-4.6	0.03148	-0.090000	0.11129	-0.358000	0.09695	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.5017:0.0:0.3766:0.1217	5.957	0.18512	988	0.01987	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	F7|F7|F10|F10|F10|F7|F7|F7|F7|F7|F7|F7|F10|F7|F10|F7|F7|F10|F7|F10|F7|F7|F10|F7|F7|F10|F10|F7|F10|F7|F7|F10|F7|F7|F7|F7|F7|F7|F10	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Thyroid	MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L	Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	rs6046	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.189325	0.080808	0.174387	0.211765	0.100000	0.215517	0.189024	0.238636	0.25	17974.1	36	chr13	113118845	.	G	A	17974.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3;DP=1244;ExcessHet=0.2065;FS=3.464;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=-0.01;SOR=0.981	GT:AD:DP:GQ:PL	0/1:106,106:212:99:2654,0,2292	6	1	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6694.11	78	chr14	23419114	.	T	TG	6694.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.044;DP=598;ExcessHet=2.8389;FS=1.144;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=1.09;SOR=0.814	GT:AD:DP:GQ:PL	0/1:44,28:72:99:912,0,1556	5	0	5	0
chr14	45159081	45159082	TA	-	intronic	FANCM	.	.	.	.	112	1082	255	73	0	401	0.156335	.	.	.	254944	not_specified|not_provided|Premature_ovarian_failure_15|Spermatogenic_failure_28|Fanconi_anemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1649	0.118211	0.2866	0.1333	0.3837	0.3597	0.2824	0.2839	0.3018	0.2884	0.0001153	3	26028	rs112326758	0.1122	0.1201	0.1094	0.1149	0.1935	0.1117	0.1115	0.1908	0.1897	0.0401	0.1465	0.1445	0.1311	0.1270	0.1417	0.1046	0.1161	0.1935	0.0911	0.0910	0.0895	0.0928	0.1830	0.0898	0.0893	0.1730	0.1690	0.0383	0.1634	0.1126	0.1321	0.1180	0.1093	0.1103	0.1032	0.1164	0.1830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	951.52	33	chr14	45159080	.	TTA	T	951.52	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0;DP=227;ExcessHet=0.7463;FS=0.821;InbreedingCoeff=-0.1799;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=19.03;ReadPosRankSum=1.59;SOR=0.583	GT:AD:DP:GQ:PL	0/1:6,17:23:99:588,0,161	7	0	3	0
chr14	53949883	53949883	-	A	UTR3	BMP4	NM_001202:c.*148_*149insT;NM_001347917:c.*148_*149insT;NM_001347916:c.*148_*149insT;NM_001347915:c.*148_*149insT;NM_001347914:c.*148_*149insT;NM_001347913:c.*148_*149insT;NM_001347912:c.*148_*149insT;NM_130851:c.*148_*149insT;NM_130850:c.*148_*149insT	.	.	Microphthalmia, syndromic 6, Autosomal dominant;Orofacial cleft 11	1179	237	2	4	100	110	0.0206612	.	.	.	320697	not_provided|Syndromic_Microphthalmia,_Dominant|BMP4-Related_Syndromic_Microphthalmia|Cleft_Lip_+/-_Cleft_Palate,_Autosomal_Dominant|Orofacial_cleft	MedGen:C3661900|MedGen:CN239443|MedGen:CN239242|MedGen:CN239161|Human_Phenotype_Ontology:HP:0000202,MONDO:MONDO:0000358,MedGen:C3266076,OMIM:PS119530	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs1491520594	0.1155	0.1173	0.1166	0.1144	0.1279	0.1147	0.1144	0.1269	0.1265	0.0529	0.0697	0.0985	0.0316	0.1596	0.0756	0.1279	0.1092	0.0748	0.0155	0.0167	0.0151	0.0160	0.0320	0.0150	0.0148	0.0304	0.0297	0.0320	0.0152	0.0116	0.0037	0.0024	0.0204	0.0123	0.0096	0.0105	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	106.73	2	chr14	53949883	.	C	CA	106.73	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.674;DP=17;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=21.35;ReadPosRankSum=0;SOR=1.609	GT:AD:DP:GQ:PL	0/1:1,2:3:25:47,0,25	4	1	1	4
chr14	67783430	67783430	C	T	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon21:c.G3722A:p.R1241Q	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1455	64	3	0	70	0.0234899	.	.	.	272829	not_specified|Spastic_paraplegia|Hereditary_spastic_paraplegia_15|not_provided|Hereditary_spastic_paraplegia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.111	0.00398806377251	0.0025	0.00139776	0.0028	0.0004	0.0018	0	0.0023	0.0040	0.0055	0.0021	0.0028266	437	154602	rs140756827	0.0033	0.0033	0.0032	0.0035	0.0258	0.0032	0.0032	0.0225	0.0212	0.0006	0.0031	0.0103	2.519e-05	0.0014	0.0258	0.0032	0.0050	0.0034	0.0026	0.0026	0.0027	0.0026	0.0044	0.0024	0.0023	0.0036	0.0033	0.0004	0	0.0044	0.0089	0	0.0011	0.0136	0.0035	0.0066	0.0033	0.126	0.28026	T	0.096	0.39799	T	0.992	0.64738	D	0.579	0.50152	P	0.888350	0.08705	N	0.940006	0.999901	0.19694	N	.	.	.	1.73	0.29085	T	-0.9	0.24244	N	0.054	0.02559	-1.0229	0.22769	T	0.053	0.22346	T	10	0.004694402	0.00099	T	0.003988	0.09462	T	0.111	0.31313	.	.	0.0401082797425	0.02173	0.10019050022814473	0.09950	0.189727535353	0.21295	0.199811726809	0.00451	T	0.011711	0.10405	T	-0.628677	0.00097	T	-0.674874	0.07299	T	0.0175978062271406	0.00492	T	0.664534	0.27348	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05668	B	.;.	.;.	0.215849	0.05988	2.429	0.98064975150461631	0.37975	0.03751	0.09056	N	AEFDGBI	0.085768	0.17389	N	-1.19752000019068	0.05038	0.2287309	-1.51220344515791	0.02250	0.1031851	0.999992551724546	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	-10.9	0.00151	-0.433000	0.07017	-2.135000	0.04161	-0.852000	0.02700	0.010000	0.18352	0.000000	0.08366	0.017000	0.10941	0.3101:0.2991:0.0:0.3909	5.626	0.16761	183	0.92871	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.023690	0.005051	0.027174	0.035088	0.000000	0.025862	0.030675	0.007576	0.05	693.43	34	chr14	67783430	.	C	T	693.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=409;ExcessHet=0;FS=6.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.061;SOR=0.26	GT:AD:DP:GQ:PL	0/1:40,29:69:99:705,0,951	9	0	1	0
chr15	32168354	32168354	C	T	exonic	CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon10:c.C1405T:p.R469C,CHRNA7:NM_001190455:exon10:c.C1492T:p.R498C	Schizophrenia, neurophysiologic defect in	196	1315	11	0	0	11	0.00416509	.	.	.	1291872	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.909	0.553253761345	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170628768	0.0005	0.0004	0.0003	0.0008	0.0059	0.0005	0.0005	0.0054	0.0052	5.157e-05	0.0001	0	0.0002	0	0.0007	0.0001	0.0007	0.0059	0.0002	0.0002	0.0002	0.0002	0.0034	0.0001	0.0001	0.0017	0.0012	8.438e-05	0	9.531e-05	0	0.0006	0	0.0039	0.0001	0	0.0034	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000034	0.55875	D	0.156522	1	0.81001	D	4.465	0.98868	H	-2.5	0.89219	D	-6.76	0.92980	D	0.804	0.82257	0.957	0.96498	D	0.868	0.95597	D	10	0.9478278	0.94111	D	0.553254	0.95891	D	0.909	0.97549	0.887	0.97178	0.90926303857	0.90835	0.8656135148711886	0.86526	.	.	0.892295122147	0.95543	D	0.945412	0.99174	D	0.458168	0.92843	D	0.42035	0.92755	D	0.204311055630479	0.20652	T	0.999706	0.99908	D	0.73728424	0.80137	0.6016395	0.76854	0.73728424	0.80139	0.6016395	0.76855	-14.885	0.95577	D	.	.	0.985	0.92184	P	.;.;.;.;.	.;.;.;.;.	5.941134	0.94130	33	0.99915473679406486	0.98379	0.92927	0.56890	D	AEFGI	0.702531	0.65887	D	0.743938986608554	0.82508	7.780338	0.601407334097103	0.75040	6.241057	0.0419777051083595	0.14506	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	3.66	3.66	0.41111	4.543000	0.60395	7.613000	0.61989	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.669	0.61890	964	0.07719	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	47.45	19	chr15	32168354	.	C	T	47.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.84;DP=145;ExcessHet=0;FS=0;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=26.55;MQRankSum=0.319;QD=3.95;ReadPosRankSum=-1.543;SOR=0.148	GT:AD:DP:GQ:PL	0/1:9,3:12:59:59,0,244	9	0	1	0
chr15	34791307	34791307	-	CA	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322315	Left_ventricular_noncompaction_cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_restrictive_cardiomyopathy|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided|Atrial_septal_defect	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210,Orphanet:217635|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:CN239310|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020747	54	26028	rs767357797	0.0537	0.0905	0.0502	0.0571	0.0877	0.0533	0.0532	0.0859	0.0852	0.0708	0.0676	0.0639	0.0823	0.0800	0.0619	0.0460	0.0657	0.0877	0.1194	0.1243	0.1202	0.1185	0.1444	0.1179	0.1173	0.1412	0.1399	0.1444	0.0293	0.0882	0.0608	0.1144	0.1094	0.0899	0.1172	0.1079	0.1395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	22028.3	59	chr15	34791307	.	T	TCA	22028.3	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.545;DP=1400;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=33.13;ReadPosRankSum=-0.415;SOR=0.688	GT:AD:DP:GQ:PL	1/0:6,25:55:99:617,122,425	6	0	4	0
chr15	34791308	34791311	CACA	-	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322319	Cardiovascular_phenotype|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.244808	.	.	.	.	.	.	.	.	0.0038036	99	26028	rs572654192	0.0856	0.1084	0.0840	0.0873	0.0998	0.0852	0.0850	0.0966	0.0953	0.0998	0.0810	0.1028	0.0190	0.1503	0.0970	0.0833	0.0926	0.0968	0.1173	0.1181	0.1162	0.1185	0.1258	0.1158	0.1151	0.1191	0.1182	0.1072	0.0878	0.1032	0.1344	0.0167	0.1954	0.1007	0.1214	0.1224	0.1258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	22028.3	59	chr15	34791307	.	TCACA	T	22028.3	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.545;DP=1400;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=33.13;ReadPosRankSum=-0.415;SOR=0.688	GT:AD:DP:GQ:PL	0/1:6,7:55:99:617,424,1148	6	1	3	0
chr15	42390110	42390110	C	T	intronic	CAPN3	.	.	.	Muscular dystrophy, limb-girdle, type 2A, Autosomal recessive	3	1512	7	0	0	7	0.00230947	.	.	.	373432	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A|not_specified	MONDO:MONDO:0009675,MedGen:C1869123,OMIM:253600,Orphanet:267|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0001	0	0.0002	0	0.0008	0.0001617	25	154602	rs763112832	0.0001	0.0001	8.849e-05	0.0002	0.0026	0.0001	0.0001	0.0016	0.0013	5.974e-05	8.944e-05	0.0002	7.557e-05	0	0.0026	6.295e-05	0.0002	0.0008	7.887e-05	7.88e-05	3.855e-05	0.0001	0.0010	4.498e-05	3.513e-05	0.0004	0.0003	2.413e-05	0	0.0001	0	0.0002	0	0	4.41e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1229.43	33	chr15	42390110	.	C	T	1229.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.49;DP=391;ExcessHet=0;FS=2.114;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=0.049;SOR=0.43	GT:AD:DP:GQ:PL	0/1:34,46:80:99:1241,0,753	9	0	1	0
chr15	45097326	45097326	C	T	exonic	DUOX2	.	synonymous SNV	DUOX2:NM_001363711:exon29:c.G3759A:p.P1253P,DUOX2:NM_014080:exon29:c.G3759A:p.P1253P	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1402	105	15	0	135	0.045934	.	.	.	339040	Thyroid_dyshormonogenesis_6|DUOX2-related_disorder|not_provided	MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0039	0.00239617	0.0056	0.0005	0.0021	0.0001	0	0.0061	0.0143	0.0143	0.0049999	773	154602	rs140663764	0.0041	0.0041	0.0035	0.0046	0.0290	0.0040	0.0040	0.0254	0.0240	0.0005	0.0024	0.0354	0	0.0002	0.0290	0.0026	0.0073	0.0160	0.0035	0.0035	0.0031	0.0039	0.0133	0.0032	0.0031	0.0107	0.0097	0.0005	0	0.0056	0.0340	0	0.0002	0.0068	0.0033	0.0071	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.020161	0.000000	0.010870	0.020468	0.000000	0.051724	0.042945	0.011364	0.15	4286.45	120	chr15	45097326	.	C	T	4286.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.863;DP=608;ExcessHet=0.7463;FS=6.06;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.811;SOR=0.593	GT:AD:DP:GQ:PL	0/1:62,48:110:99:1189,0,1559	7	0	3	0
chr15	59163157	59163157	G	C	exonic	MYO1E	.	nonsynonymous SNV	MYO1E:NM_004998:exon23:c.C2627G:p.T876R	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	2	1515	4	0	1	5	0.00131839	0.0002	0.102	YES	860175	Focal_segmental_glomerulosclerosis_6|MYO1E-related_disorder|not_provided	MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	0.0126745939625	0.0025	0.000199681	0.0015	0.0011	8.881e-05	0	0.0002	0.0021	0.0023	0.0017	0.0015653	242	154602	rs147596471	0.0027	0.0027	0.0027	0.0027	0.0033	0.0026	0.0026	0.0032	0.0031	0.0003	0.0006	3.828e-05	5.039e-05	0.0003	0.0003	0.0033	0.0028	0.0013	0.0015	0.0015	0.0017	0.0013	0.0028	0.0014	0.0013	0.0025	0.0024	0.0003	0	0.0010	0	0	0.0002	0	0.0028	0.0014	0.0012	0.444	0.09155	T	0.636	0.07059	T	0.001	0.07471	B	0.006	0.12133	B	0.000053	0.53742	D	0.163829	0.999999	0.58761	D	0.55	0.14455	N	1.21	0.37230	T	-0.66	0.19085	N	0.461	0.49783	-1.0848	0.06444	T	0.052	0.22192	T	9	0.016517103	0.00348	T	0.012675	0.31446	T	0.178	0.44724	.	.	0.520586239559	0.51704	0.6389046100548437	0.63824	0.301061417325	0.32454	0.733673036098	0.72043	T	0.096844	0.39906	T	-0.299329	0.08724	T	-0.201788	0.54476	T	0.0115339636240952	0.00174	T	0.919908	0.71037	D	0.090014316	0.21048	0.10514897	0.25270	0.10629278	0.25133	0.08917522	0.20836	-11.6	0.82848	D	.	.	0.324	0.54775	B	.	.	3.157853	0.42778	21.6	0.6009698225517609	0.06381	0.96367	0.68792	D	AEFGBI	0.686268	0.64800	D	-0.252186376787559	0.31016	1.735047	-0.133058076294497	0.34067	1.955516	0.999999999563368	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.09	4.09	0.47038	4.062000	0.57206	5.654000	0.49193	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0891:0.0:0.9109:0.0	10.524	0.44126	360	0.84920	Class I myosin tail homology domain|Class I myosin tail homology 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	328.43	34	chr15	59163157	.	G	C	328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.53;DP=359;ExcessHet=0;FS=4.544;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=0.623;SOR=1.445	GT:AD:DP:GQ:PL	0/1:33,15:48:99:340,0,736	9	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	40902.2	147	chr15	59256276	.	C	T	40902.2	.	AC=20;AF=1;AN=20;BaseQRankSum=2.57;DP=1498;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=20;MLEAF=1;MQ=60;MQRankSum=0;QD=27.82;ReadPosRankSum=0.755;SOR=0.158	GT:AD:DP:GQ:PL	1/1:1,123:124:99:3339,361,0	0	10	0	0
chr15	84863589	84863589	A	G	exonic	ALPK3	.	nonsynonymous SNV	ALPK3:NM_020778:exon11:c.A4448G:p.K1483R	.	429	1088	5	0	0	5	0.00229253	.	.	.	409363	Cardiomyopathy,_familial_hypertrophic_27|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0054838,MedGen:C4748014,OMIM:618052|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.258	0.0134123272869	7.7e-05	.	8.368e-05	0	0	0	0	6.063e-05	0	0.0004	7.12e-05	11	154602	rs367667489	7.525e-05	7.593e-05	7.487e-05	7.563e-05	0.0009	6.382e-05	5.938e-05	0.0003	0.0002	5.974e-05	0	0	0	0	0.0009	5.935e-05	8.279e-05	0.0004	5.911e-05	5.905e-05	6.425e-05	5.372e-05	0.0001	3.076e-05	2.209e-05	4.766e-05	3.34e-05	0	0	6.533e-05	0	0	0	0	0.0001	0.0005	0	0.001	0.78490	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.994685	0.42376	D	2.215	0.62545	M	3.15	0.07820	T	-2.9	0.60827	D	0.41	0.45047	-1.1684	0.00571	T	0.058	0.24242	T	10	0.27417237	0.44969	T	0.013412	0.32792	T	0.258	0.56959	.	.	0.363944505237	0.36005	0.4509781744802736	0.45015	0.19089632529	0.21403	0.607100605965	0.53907	T	0.118142	0.43873	T	-0.363026	0.03962	T	-0.437272	0.29114	T	0.20904499521783	0.20903	T	0.812719	0.46458	T	0.58016276	0.71617	0.5809324	0.75709	0.58016276	0.71619	0.5809324	0.75710	-8.277	0.62942	D	.	.	0.085	0.10304	B	.	.	3.800956	0.54768	23.5	0.99887090333759709	0.96204	0.99134	0.91726	D	AEFDBI	0.805588	0.73013	D	0.494316788353411	0.66757	4.991595	0.476053508040557	0.66406	4.948028	0.999999995002839	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	4.68	0.58319	7.031000	0.76223	5.286000	0.48194	-0.054000	0.16847	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.9206:0.0:0.0794:0.0	10.020	0.41207	641	0.64016	MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.003788	0.05	1430.43	37	chr15	84863589	.	A	G	1430.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.181;DP=420;ExcessHet=0;FS=3.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.695;SOR=0.536	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1442,0,1083	9	0	1	0
chr15	89285146	89285146	T	C	exonic	FANCI	.	synonymous SNV	FANCI:NM_001113378:exon18:c.T1749C:p.F583F,FANCI:NM_001376910:exon18:c.T1470C:p.F490F,FANCI:NM_001376911:exon18:c.T1749C:p.F583F,FANCI:NM_018193:exon18:c.T1749C:p.F583F	Fanconi anemia, complementation group I	0	1517	5	0	0	5	0.00164528	.	.	YES	684560	Fanconi_anemia|Fanconi_anemia_complementation_group_I|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053,Orphanet:84|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	0.0002	9.61e-05	0.0004	0	0	0.0002	0	6.056e-05	0.0001552	24	154602	rs201037656	0.0002	0.0002	0.0002	0.0002	0.0076	0.0002	0.0002	0.0058	0.0052	0.0005	0.0007	3.827e-05	0	0	0.0076	0.0002	0.0005	6.956e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0003	0.0002	0.0003	0	0.0006	0	0	0	0	0.0001	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	0.005539	0.015152	0.002717	0.011696	0.000000	0.008621	0.000000	0.000000	0.05	1188.43	35	chr15	89285146	.	T	C	1188.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.904;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-1.479;SOR=0.698	GT:AD:DP:GQ:PL	0/1:74,57:131:99:1200,0,1870	9	0	1	0
chr15	99973383	99973388	TGGGCT	-	UTR3	ADAMTS17	NM_139057:c.*1019_*1014delAGCCCA	.	.	Weill-Marchesani-like syndrome, Autosomal recessive	1266	160	13	83	0	179	0.358717	.	.	.	340315	not_provided|Weill-Marchesani_4_syndrome,_recessive	MedGen:C3661900|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195,Orphanet:363992	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.58726	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs11277519	0.5667	0.0244	0.3750	0.6364	1.0000	0.3611	0.2965	0.2935	0.2192	1.0000	.	0.5000	.	0.5000	.	0.5625	0.5000	.	0.6338	0.6351	0.6333	0.6342	0.6580	0.6304	0.6290	0.6529	0.6507	0.6083	0.6834	0.5772	0.6358	0.5174	0.7472	0.5310	0.6580	0.5885	0.5808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	140.31	4	chr15	99973382	.	CTGGGCT	C	140.31	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0;DP=19;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=28.06;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:36:81,0,36	4	1	1	4
chr16	176809	176813	GAGGT	-	exonic	HBA1	.	nonframeshift deletion	HBA1:NM_000558:exon1:c.93_95del:p.R32del	Erythremias, alpha- (3);Heinz body anemias, alpha-, Autosomal dominant;Hemoglobin H disease, nondeletional;Methemoglobinemias, alpha- (3);Thalassemias, alpha-	6	1502	14	0	0	14	0.00463883	.	.	.	1038385	Erythrocytosis,_familial,_7|not_provided|alpha_Thalassemia	MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181505507	3.39e-05	8.965e-05	2.577e-05	4.215e-05	0.0035	2.612e-05	2.341e-05	0.0021	0.0017	0	0.0001	0	0	0	0.0035	1.599e-05	0.0001	3.722e-05	2.757e-05	3.959e-05	2.682e-05	2.837e-05	6.764e-05	8.44e-06	5.34e-06	1.211e-05	6.36e-06	0	0	6.764e-05	0	0	0	0	4.563e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	654.39	43	chr16	176808	.	AGAGGT	A	654.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.652;DP=345;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=30.62;MQRankSum=0.341;QD=13.63;ReadPosRankSum=0.219;SOR=0.813	GT:AD:DP:GQ:PL	0/1:30,18:48:99:666,0,1164	9	0	1	0
chr16	2048758	2048758	G	A	intronic	TSC2	.	.	.	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	.	.	.	.	.	.	.	1.0000	0.95	YES	59354	not_provided|Tuberous_sclerosis_syndrome|Lymphangiomyomatosis|Isolated_focal_cortical_dysplasia_type_II|Tuberous_sclerosis_2	MedGen:C3661900|MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orphanet:538|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	Neoplasm	Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs45481400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	69.83	30	chr16	2048758	.	G	A	69.83	.	AC=2;AF=0.25;AN=8;BaseQRankSum=0.044;DP=266;ExcessHet=0.2996;FS=62.643;InbreedingCoeff=-0.3092;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=0.904;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,13:34:73:.:.:73,0,275:.	2	0	2	6
chr16	5071868	5071868	G	A	exonic	ALG1	.	nonsynonymous SNV	ALG1:NM_019109:exon1:c.G19A:p.V7I	Congenital disorder of glycosylation, type Ik, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	.	190586	ALG1-congenital_disorder_of_glycosylation|not_provided	MONDO:MONDO:0012052,MedGen:C2931005,OMIM:608540,Orphanet:79327|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.105	0.0297585964628	0.0002	0.000599042	0.0008	0	0	0	0	0	0.0033	0.0050	0.0004981	77	154602	rs199891552	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0034	0.0033	0	4.513e-05	0	0	0	0	1.171e-05	0.0002	0.0037	9.845e-05	9.842e-05	5.138e-05	0.0001	0.0031	6e-05	4.874e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.536	0.06891	T	0.599	0.13912	T	0.039	0.21116	B	0.037	0.23121	B	0.318569	0.14310	N	0.690501	1	0.25535	N	0.695	0.17993	N	-1.02	0.76300	T	-0.07	0.08033	N	0.134	0.13055	-0.9316	0.43903	T	0.233	0.59928	T	10	0.0046248436	0.00096	T	0.029759	0.52206	D	0.105	0.29889	.	.	0.564579235405	0.56121	0.4385728961308984	0.43774	0.0537900202015	0.05943	0.519137382507	0.41504	T	0.051579	0.38083	T	-0.533448	0.00367	T	-0.539182	0.18376	T	0.0220379647184601	0.00914	T	0.49905	0.15565	T	0.043572053	0.06815	0.05113512	0.08168	0.049974255	0.08955	0.048931487	0.07371	-5.791	0.44496	T	.	.	0.101	0.25000	B	.;.	.;.	0.856501	0.12288	8.829	0.9660720671041777	0.30430	0.20730	0.21148	N	ALL	0.056261	0.10386	N	-0.926603107676463	0.10223	0.4875051	-0.89870022907482	0.12125	0.6218702	0.999999999996993	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	4.81	3.83	0.43287	0.425000	0.21065	0.952000	0.22930	0.676000	0.76740	0.047000	0.21291	0.002000	0.18203	0.001000	0.02609	0.0:0.1893:0.8107:0.0	10.980	0.46702	873	0.30802	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	708.43	33	chr16	5071868	.	G	A	708.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=374;ExcessHet=0;FS=2.561;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.008;SOR=1.244	GT:AD:DP:GQ:PL	0/1:30,26:56:99:720,0,710	9	0	1	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	1634.92	36	chr16	23445969	.	TA	T	1634.92	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.342;DP=418;ExcessHet=22.563;FS=3.646;InbreedingCoeff=-0.9779;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=0.556;SOR=0.498	GT:AD:DP:GQ:PL	0/1:8,7:20:99:144,0,127	0	0	10	0
chr16	56511263	56511263	T	C	exonic	BBS2	.	nonsynonymous SNV	BBS2:NM_001377456:exon3:c.A367G:p.I123V,BBS2:NM_031885:exon3:c.A367G:p.I123V	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive	7	1085	379	51	0	481	0.181441	.	.	YES	255825	Bardet-Biedl_syndrome|not_specified|Retinitis_pigmentosa_74|Bardet-Biedl_syndrome_1|not_provided|Bardet-Biedl_syndrome_2|Retinal_dystrophy	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MONDO:MONDO:0014692,MedGen:C4225281,OMIM:616562,Orphanet:791|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:C3661900|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.169	.	0.1954	0.263578	0.2092	0.2292	0.3062	0.4101	0.1777	0.1703	0.2080	0.1939	0.205702	31802	154602	rs11373	0.1869	0.1869	0.1878	0.1860	0.4109	0.1863	0.1861	0.4056	0.4034	0.2297	0.2862	0.2119	0.4109	0.1735	0.1505	0.1732	0.1982	0.1882	0.2072	0.2074	0.2067	0.2076	0.4000	0.2052	0.2045	0.3857	0.3798	0.2319	0.1020	0.2418	0.2044	0.4000	0.1837	0.1361	0.1761	0.2111	0.1922	0.562	0.06341	T	0.544	0.11829	T	.	.	.	.	.	.	0.006774	0.31811	N	0.376395	0.726341	0.29873	P	.	.	.	-1.58	0.81987	D	-0.24	0.11008	N	0.056	0.06454	-1.0141	0.25625	T	0.000	0.00011	T	9	0.0039009154	0.00074	T	.	.	.	0.169	0.43123	.	.	.	.	0.40657062324920235	0.40573	0.20816477634	0.23283	0.361940145493	0.19669	T	0.222663	0.58657	T	-0.576094	0.00204	T	-0.456476	0.26983	T	0.00215051843252122	0.00022	T	0.759724	0.38410	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00647	B	.;.	.;.	0.874631	0.12478	9.008	0.60179440470861367	0.06401	0.81298	0.40731	D	AEFBI	0.120463	0.23466	N	-0.808476354663507	0.13093	0.6426372	-0.64647875390651	0.18306	0.9772973	0.744928693620984	0.23270	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.9	0.542	0.16365	0.398000	0.20624	-0.822000	0.07291	0.654000	0.53741	0.997000	0.40164	0.001000	0.17328	0.854000	0.40426	0.0:0.3239:0.1315:0.5446	5.865	0.18019	453	0.79178	Ciliary BBSome complex subunit 2, N-terminal;.	OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT1E|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT4|OGFOD1|AMFR|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|OGFOD1	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	BBS2|NUDT21|BBS2|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2	Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Transverse|Heart_Left_Ventricle|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs11373	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.187311	0.237374	0.202446	0.140351	0.250000	0.172414	0.149390	0.200758	0.25	7045.15	35	chr16	56511263	.	T	C	7045.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.697;DP=736;ExcessHet=2.8389;FS=0.528;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.4;SOR=0.659	GT:AD:DP:GQ:PL	0/1:62,67:129:99:1617,0,1505	5	0	5	0
chr16	88807362	88807362	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon9:c.C1357T:p.R453W	Meier-Gorlin syndrome 4, Autosomal recessive	0	1503	17	2	0	21	0.00693756	.	.	.	429864	not_provided|not_specified|Meier-Gorlin_syndrome_4	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013431,MedGen:C3151120,OMIM:613804,Orphanet:2554	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.591	0.196229013514	0.0002	0.00119808	0.0015	0.0002	0.0004	0	0	0.0002	0.0024	0.0097	0.0012613	195	154602	rs200672589	0.0007	0.0007	0.0004	0.0010	0.0100	0.0007	0.0007	0.0095	0.0093	5.975e-05	0.0001	0	0	1.924e-05	0.0017	8.994e-05	0.0009	0.0100	0.0004	0.0004	0.0003	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	2.405e-05	0	6.532e-05	0	0	0	0	0.0002	0.0005	0.0087	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000011	0.62929	D	0.064498	0.994457	0.42288	D	3.04	0.86592	M	-1.89	0.84557	D	-6.96	0.93509	D	0.944	0.95139	0.236	0.86517	D	0.703	0.89779	D	10	0.044795364	0.03478	T	0.196229	0.86468	D	0.591	0.83691	.	.	0.966768201255	0.96641	0.692137122156209	0.69153	0.0957176713652	0.10811	0.487810194492	0.37135	T	0.678472	0.90533	D	0.0893022	0.63112	D	0.362749	0.90804	D	0.261758791827368	0.23392	T	0.907609	0.67324	D	0.8409009	0.86673	0.7466684	0.85026	0.8409009	0.86674	0.7466684	0.85027	-9.535	0.71076	D	0.8500032524423916	0.91640	0.141	0.30971	B	.	.	4.595256	0.72728	25.9	0.99750430590642192	0.84228	0.97147	0.72965	D	AEFDBHCI	0.482043	0.52308	N	0.00257246074425099	0.41972	2.520293	-0.209665185033156	0.31187	1.762707	0.999993722833189	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.48	0.746	0.17514	3.144000	0.50312	3.284000	0.37253	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.2042:0.5621:0.0992:0.1345	4.433	0.10959	824	0.40336	DNA replication factor Cdt1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.005102	0.001359	0.002941	0.000000	0.000000	0.003049	0.015152	0.1	1481.14	33	chr16	88807362	.	C	T	1481.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.31;DP=400;ExcessHet=0.2348;FS=2.296;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.332;SOR=0.882	GT:AD:DP:GQ:PL	0/1:20,13:33:99:367,0,536	8	0	2	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	.	.	.	.	.	.	.	.	0.45	782.83	142	chr17	3648932	.	G	C	782.83	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.825;DP=1043;ExcessHet=15.1594;FS=349.684;InbreedingCoeff=-0.844;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.02;SOR=12.061	GT:AD:DP:GQ:PL	0/1:39,28:76:99:134,0,482	1	0	9	0
chr17	8114484	8114484	G	A	exonic	ALOXE3	.	nonsynonymous SNV	ALOXE3:NM_001369446:exon5:c.C677T:p.A226V,ALOXE3:NM_001165960:exon6:c.C1076T:p.A359V,ALOXE3:NM_021628:exon6:c.C680T:p.A227V	Ichthyosis, congenital, autosomal recessive 3, Autosomal recessive	2	1516	4	0	0	4	0.00131752	0.0343	0.316	YES	797624	Autosomal_recessive_congenital_ichthyosis_3|not_provided	MONDO:MONDO:0011680,MedGen:C3539888,OMIM:606545|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.443	0.0929278099463	.	.	0.0002	0	8.64e-05	0	0	0.0001	0.0011	0.0008	0.0001682	26	154602	rs199981318	0.0002	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0009	0	6.708e-05	0	0	0	0.0010	0.0002	0.0002	0.0011	5.264e-05	5.253e-05	5.145e-05	5.388e-05	0.0002	2.56e-05	1.832e-05	1.973e-05	1.125e-05	4.835e-05	0	0	0	0	0	0	5.885e-05	0.0005	0.0002	0.078	0.46129	T	0.084	0.41239	T	0.111	0.26235	B	0.029	0.21540	B	0.291429	0.14762	N	0.664999	0.763107	0.34062	D	1.485	0.37223	L	-2.67	0.90332	D	-1.9	0.44284	N	0.273	0.30914	0.151	0.85080	D	0.621	0.86638	D	9	0.12192729	0.23122	T	0.092928	0.75981	D	0.443	0.74588	.	.	0.940565244598	0.93994	0.2756544525761791	0.27478	0.248281453922	0.27391	0.451162785292	0.32103	T	0.118623	0.43958	T	-0.240948	0.15227	T	-0.179479	0.56571	T	0.0447214661413578	0.04551	T	0.626337	0.24237	T	0.0734038	0.16401	0.11934262	0.28806	0.0734038	0.16400	0.11934262	0.28805	-4.347	0.28982	T	.	.	0.146	0.40618	B	.;.;.	.;.;.	3.701581	0.52801	23.3	0.99719837205035955	0.81984	0.87722	0.47358	D	AEFBI	0.278409	0.39270	N	-0.000730473740849141	0.41823	2.508524	0.0670413260584502	0.42903	2.60332	0.0774252180848599	0.15758	0.625279	0.40028	0	0.60822	0.50512	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.46	3.49	0.39065	2.862000	0.48087	3.038000	0.36069	0.676000	0.76740	0.998000	0.41325	0.999000	0.35428	0.919000	0.45453	0.1:0.0:0.7065:0.1934	5.670	0.16989	344	0.85734	Lipoxygenase, C-terminal;Lipoxygenase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1632.43	36	chr17	8114484	.	G	A	1632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.051;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.881;SOR=0.65	GT:AD:DP:GQ:PL	0/1:81,72:153:99:1644,0,1832	9	0	1	0
chr17	18119715	18119715	C	T	exonic	MYO15A	.	synonymous SNV	MYO15A:NM_016239:exon2:c.C915T:p.Y305Y	Deafness, autosomal recessive 3, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	230682	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_3|not_provided	MedGen:CN169374|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.00119808	0.0013	0.0002	0.0003	0	0.0003	0.0009	0.0035	0.0049	0.0010867	168	154602	rs200695102	0.0008	0.0008	0.0007	0.0009	0.0054	0.0008	0.0007	0.0050	0.0048	2.987e-05	0.0002	0.0049	0	0.0002	0.0009	0.0004	0.0009	0.0054	0.0006	0.0006	0.0006	0.0006	0.0033	0.0005	0.0004	0.0021	0.0017	4.816e-05	0.0066	0.0002	0.0049	0	0.0002	0	0.0006	0.0005	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.05	4765.43	41	chr17	18119715	.	C	T	4765.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.62;DP=783;ExcessHet=0;FS=0.523;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-2.008;SOR=0.714	GT:AD:DP:GQ:PL	0/1:236,195:431:99:4777,0,5634	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4811.16	26	chr17	18130817	.	A	AGT	4811.16	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.661;DP=1077;ExcessHet=0.7463;FS=2.778;InbreedingCoeff=-0.1765;MLEAC=8;MLEAF=0.4;MQ=59.99;MQRankSum=0;QD=17.89;ReadPosRankSum=0.434;SOR=1.055	GT:AD:DP:GQ:PL	0/1:13,17:33:99:289,0,297	2	0	8	0
chr17	19909228	19909228	T	C	exonic	AKAP10	.	nonsynonymous SNV	AKAP10:NM_001330152:exon13:c.A1762G:p.I588V,AKAP10:NM_007202:exon14:c.A1936G:p.I646V	.	429	489	464	140	0	744	0.432056	.	.	.	20443	Reclassified_-_variant_of_unknown_significance|AKAP10-related_disorder	.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.120	.	0.4504	0.39397	0.3737	0.5879	0.4229	0.1824	0.3464	0.3790	0.3377	0.2956	0.373016	57669	154602	rs203462	0.3854	0.3855	0.3891	0.3817	0.5952	0.3846	0.3842	0.5883	0.5855	0.5952	0.4193	0.3679	0.2016	0.3461	0.4069	0.3927	0.3889	0.3035	0.4277	0.4279	0.4312	0.4241	0.5838	0.4250	0.4238	0.5777	0.5751	0.5838	0.3626	0.4303	0.3698	0.1901	0.3480	0.4150	0.3766	0.4152	0.2874	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.000000	0.999797	0.20333	P	-2.015	0.00187	N	2.01	0.21291	T	0.31	0.04022	N	0.118	0.10769	-0.9687	0.37468	T	0.000	0.00011	T	9	5.4074975e-05	0.00009	T	.	.	.	0.120	0.33359	.	.	.	.	0.1933210593021231	0.19250	0.178928352935	0.20133	0.692670106888	0.66089	T	0.062406	0.31909	T	-0.636176	0.00088	T	-0.542779	0.18025	T	0.00597241672880667	0.00066	T	0.305869	0.05863	T	0.049374104	0.08756	0.061363425	0.11835	0.049374104	0.08756	0.061363425	0.11835	-1.044	0.01049	T	.	.	0.048	0.00179	B	.;.	.;.	1.819896	0.23127	15.90	0.48678567446506221	0.04082	0.07005	0.13031	N	AEFGBI	0.025493	0.01754	N	-0.652311836236643	0.17393	0.8946286	-0.344221069595134	0.26688	1.475766	0.998595863275224	0.37268	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.88	5.88	0.94564	3.391000	0.52271	5.998000	0.52441	-0.192000	0.09343	0.976000	0.34826	1.000000	0.68203	0.953000	0.50222	0.0:0.9244:0.0:0.0756	12.685	0.56308	587	0.69154	A-kinase anchor protein 10, PKA-binding (AKB) domain;A-kinase anchor protein 10, PKA-binding (AKB) domain	RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|AKAP10|RP11-209D14.2|RP11-78O7.2|AKAP10|RP11-209D14.2|CCDC144CP|RP11-78O7.2|RP11-78O7.2|RP11-78O7.2|CCDC144CP|RP11-78O7.2|USP32P3|RP11-78O7.2|RP11-78O7.2|CCDC144CP|USP32P3|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|RP11-78O7.2|RP11-78O7.2|AKAP10|LGALS9B|KRT16P3|RP11-78O7.2|AKAP10|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|AKAP10|RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|CCDC144CP|AKAP10|LGALS9B|RP11-78O7.2|AKAP10|RP11-78O7.2|LGALS9B|RP11-209D14.2|CCDC144CP|USP32P3|SRP68P3|NOS2P3|AC008088.4|RP11-78O7.2|AKAP10|CCDC144CP|USP32P3|RP11-209D14.4|AKAP10|LGALS9B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	AKAP10|CCDC144CP|CCDC144CP|CCDC144CP|CCDC144CP|KRT16P3|CCDC144CP|KRT17P7	Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Esophagus_Mucosa|Testis|Testis	rs203462	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.427923	0.474747	0.483696	0.461988	0.350000	0.431034	0.300613	0.378788	0.55	15351.0	154	chr17	19909228	.	T	C	15351.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.693;DP=1085;ExcessHet=5.1594;FS=2.512;InbreedingCoeff=-0.4141;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.63;SOR=0.794	GT:AD:DP:GQ:PL	0/1:40,42:82:99:998,0,851	1	2	7	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	43672.0	220	chr17	21300880	.	C	T	43672.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.13;DP=2653;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=-0.715;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,108:218:99:0|1:21300875_G_T:4177,0,4167:21300875	0	0	10	0
chr17	50184491	50184491	A	G	UTR3	COL1A1	NM_000088:c.*1011T>C	.	.	Caffey disease, Autosomal dominant;Ehlers-Danlos syndrome, classic, Autosomal dominant;Ehlers-Danlos syndrome, type VIIA, Autosomal dominant;Osteogenesis imperfecta, type I, Autosomal dominant;Osteogenesis imperfecta, type II, Autosomal dominant;Osteogenesis imperfecta, type III, Autosomal dominant;Osteogenesis imperfecta, type IV, Autosomal dominant	1348	166	2	6	0	14	0.0404624	.	.	.	877920	Osteogenesis_imperfecta|Ehlers-Danlos_syndrome,_arthrochalasia_type|not_provided|Infantile_cortical_hyperostosis	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060,Orphanet:1899,Orphanet:99875,Orphanet:99876|MedGen:C3661900|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000,Orphanet:1310	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1061970	0.1386	0.0224	0.1390	0.1382	0.3314	0.1364	0.1355	0.3222	0.3185	0.0919	0.0956	0.1092	0.3314	0.1242	0.1190	0.1075	0.1113	0.2056	0.1328	0.1348	0.1290	0.1368	0.4840	0.1312	0.1306	0.4681	0.4616	0.1009	0.0373	0.1020	0.1153	0.4840	0.1265	0.1370	0.1273	0.1404	0.2483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	125.49	.	chr17	50184491	.	A	G	125.49	.	AC=3;AF=0.5;AN=6;BaseQRankSum=1.04;DP=10;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=60;MQRankSum=0;QD=17.93;ReadPosRankSum=0.524;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,3:5:61:0|1:50184475_CA_C:79,0,61:50184475	1	1	1	7
chr17	59064408	59064408	A	-	intronic	TRIM37	.	.	.	Mulibrey nanism, Autosomal recessive	3	160	18	1	44	64	0.0588235	.	.	.	329188	Mulibrey_nanism_syndrome|not_specified|not_provided	MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2284	.	0.3120	0.2552	0.3418	0.3266	0.2628	0.3084	0.3263	0.3404	0.0001921	5	26028	rs367700401	0.0985	0.1854	0.0961	0.1009	0.1579	0.0979	0.0977	0.1538	0.1521	0.0942	0.1579	0.1212	0.1240	0.1151	0.0828	0.0923	0.1014	0.1258	0.0021	0.0042	0.0020	0.0023	0.0026	0.0019	0.0018	0.0022	0.0021	0.0008	0	0.0013	0.0006	0.0006	0.0087	0.0035	0.0026	0.0021	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1564.22	147	chr17	59064407	.	TA	T	1564.22	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.113;DP=960;ExcessHet=4.5998;FS=0.67;InbreedingCoeff=-0.4288;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=0.126;SOR=0.586	GT:AD:DP:GQ:PL	0/1:60,12:74:99:119,0,1462	5	0	5	0
chr17	75843245	75843245	C	T	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon3:c.G175A:p.A59T	Hemophagocytic lymphohistiocytosis, familial, 3	1	1336	170	15	0	200	0.0696379	.	.	YES	256450	not_specified|Autoinflammatory_syndrome|Familial_hemophagocytic_lymphohistiocytosis_3	MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	.	0.0161	0.0155751	0.0159	0.0137	0.0179	0.0005	0.0019	0.0182	0.0284	0.0196	0.0154073	2382	154602	rs9904366	0.0141	0.0141	0.0133	0.0148	0.1318	0.0139	0.0139	0.1240	0.1209	0.0168	0.0152	0.0625	5.038e-05	0.0015	0.1318	0.0124	0.0204	0.0206	0.0145	0.0145	0.0150	0.0140	0.0224	0.0140	0.0138	0.0190	0.0177	0.0129	0.0230	0.0164	0.0735	0.0006	0.0008	0.1122	0.0136	0.0294	0.0224	0.041	0.41915	D	0.349	0.18732	T	0.005	0.12996	B	0.002	0.06944	B	0.032492	0.25022	N	0.382752	0.648271	0.30556	N	1.7	0.43825	L	-0.53	0.79072	T	-1.57	0.40468	N	0.079	0.05414	-0.8373	0.52826	T	0.095	0.35924	T	10	0.0044733584	0.00092	T	.	.	.	0.075	0.21907	.	.	.	.	0.27349341922199	0.27262	0.0954696783564	0.10785	0.415600240231	0.27230	T	0.274639	0.64714	T	-0.518305	0.00450	T	-0.50103	0.22241	T	0.00818269309861062	0.00098	T	0.726827	0.37500	T	0.055480037	0.10788	0.1159988	0.28004	0.071086764	0.15709	0.11007209	0.26536	-7.332	0.56422	T	0.4515954250924326	0.53531	0.130	0.34819	B	.;.;.;.;.	.;.;.;.;.	2.890299	0.38275	20.7	0.99666906948177392	0.78330	0.73832	0.36113	D	AEFDBHCIJ	0.230731	0.35406	N	-0.355012734322899	0.27089	1.483451	-0.240752692367709	0.30090	1.691322	0.999999997976585	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.478664	0.07449	1	0.655142	0.61905	0	.	.	4.86	3.89	0.44098	1.873000	0.39195	3.220000	0.36848	-0.190000	0.09434	1.000000	0.71638	0.998000	0.33993	0.561000	0.30436	0.0:0.9145:0.0:0.0855	11.340	0.48768	929	0.16858	.;.;.;.;.	ACOX1|CDK3|WBP2	Adrenal_Gland|Cells_Cultured_fibroblasts|Esophagus_Mucosa	.	.	rs9904366	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	0.120829	0.136364	0.139946	0.233918	0.100000	0.129310	0.068323	0.022727	0.1	2524.14	127	chr17	75843245	.	C	T	2524.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.512;DP=928;ExcessHet=0.2348;FS=2.062;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0.221;SOR=0.672	GT:AD:DP:GQ:PL	0/1:84,51:135:99:952,0,1904	8	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	27525.3	101	chr17	80184264	.	G	A	27525.3	.	AC=16;AF=0.8;AN=20;BaseQRankSum=0.762;DP=1051;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.375;MLEAC=16;MLEAF=0.8;MQ=60;MQRankSum=0;QD=28.26;ReadPosRankSum=-0.011;SOR=0.682	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1122,0,1107	1	7	2	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	.	.	.	.	.	.	.	.	0.4	9232.96	119	chr17	80202434	.	T	A	9232.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.089;DP=796;ExcessHet=2.8549;FS=0.551;InbreedingCoeff=-0.25;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.768;SOR=0.625	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2139,210,0	3	1	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	0.4	16742.0	178	chr17	80205094	.	C	T	16742.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.655;DP=1279;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.25;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.58;SOR=0.675	GT:AD:DP:GQ:PL	1/1:0,123:123:99:3779,369,0	3	1	6	0
chr17	80208119	80208119	C	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	2	1229	268	23	0	314	0.113276	.	.	.	1158191	not_provided|Psoriasis_2|Pityriasis_rubra_pilaris|not_specified	MedGen:C3661900|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0888	0.0720847	0.1526	0.0280	0.1084	0.0075	0.2308	0.1873	0.1186	0.1770	0.0424962	6570	154602	rs111745899	0.1426	0.1377	0.1425	0.1428	0.1531	0.1421	0.1419	0.1525	0.1522	0.0236	0.0832	0.1421	0.0128	0.1780	0.1180	0.1531	0.1319	0.1183	0.1098	0.1098	0.1093	0.1102	0.1530	0.1084	0.1078	0.1505	0.1495	0.0271	0.1371	0.1085	0.1509	0.0098	0.1816	0.1463	0.1530	0.1191	0.1250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3820.55	36	chr17	80208119	.	C	A	3820.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2;DP=436;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.375;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=20.54;ReadPosRankSum=0.774;SOR=0.692	GT:AD:DP:GQ:PL	1/1:0,66:66:99:1932,198,0	7	1	2	0
chr19	5719808	5719808	T	C	exonic	LONP1	.	nonsynonymous SNV	LONP1:NM_004793:exon1:c.A325G:p.I109V,LONP1:NM_001276479:exon2:c.A133G:p.I45V	CODAS syndrome, Autosomal recessive	423	1098	1	0	0	1	0.000455166	.	.	.	1323969	Inborn_genetic_diseases|CODAS_syndrome|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010879,MedGen:C1838180,OMIM:600373,Orphanet:1458|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	0.00674745930397	0.0002	.	6.923e-05	0.0008	0	0	0	0	0	0	5.17e-05	8	154602	rs141593936	3.151e-05	3.147e-05	4.226e-05	2.066e-05	0.0008	2.415e-05	2.16e-05	0.0006	0.0005	0.0008	2.237e-05	0	0	0	0.0002	1.799e-06	0.0002	2.32e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.167e-05	6.723e-05	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0	0	0	0	1.0	0.00964	T	0.658	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.000202	0.47681	N	0.209720	1	0.81001	D	0.205	0.09354	N	2.32	0.41058	T	0.06	0.06253	N	0.186	0.30461	-1.0084	0.27416	T	0.018	0.07659	T	10	0.035190195	0.01757	T	0.006747	0.17840	T	0.035	0.08770	.	.	0.110392049598	0.10638	0.15961095781042536	0.15882	0.276049919379	0.30084	0.632070183754	0.57438	T	0.108395	0.42140	T	-0.501411	0.00561	T	-0.583375	0.14244	T	0.00494339379154037	0.00053	T	0.717928	0.34274	T	0.020991785	0.00680	0.024274334	0.00444	0.020991785	0.00680	0.024274334	0.00444	-2.212	0.04098	T	.	.	0.093	0.39949	B	.;.;.	.;.;.	2.062254	0.26218	17.04	0.80160262214641909	0.13072	0.70233	0.34506	D	AEFDBHCI	0.307894	0.41464	N	-0.44271295239507	0.23987	1.292089	-0.259387456146259	0.29449	1.649996	0.999999972463417	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.57	3.55	0.39770	3.150000	0.50359	0.559000	0.19493	0.651000	0.53179	1.000000	0.71638	0.790000	0.26855	0.501000	0.29039	0.0:0.2215:0.0:0.7785	5.489	0.16057	867	0.32089	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1160.43	34	chr19	5719808	.	T	C	1160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.752;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.59;SOR=0.65	GT:AD:DP:GQ:PL	0/1:32,52:84:99:1172,0,729	9	0	1	0
chr19	45548790	45548790	-	TTAT	UTR3	OPA3	NM_025136:c.*4723_*4724insATAA	.	.	3-methylglutaconic aciduria, type III, Autosomal recessive;Optic atrophy 3 with cataract, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	349127	3-Methylglutaconic_aciduria_type_3|Optic_Atrophy,_Dominant	MONDO:MONDO:0009787,MedGen:C0574084,OMIM:258501,Orphanet:67047|MedGen:CN239213	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.530152	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs139897733	0.2113	0.1500	0.2095	0.2133	0.3717	0.2101	0.2096	0.3451	0.3345	0.1666	0.2500	0.2248	0.3717	0.2069	0.1901	0.2102	0.2118	0.2638	0.2814	0.2835	0.2769	0.2862	0.4466	0.2791	0.2782	0.4311	0.4249	0.2126	0.2180	0.3331	0.3108	0.4466	0.3035	0.3138	0.2878	0.2780	0.3834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	172.15	.	chr19	45548790	.	C	CTTAT	172.15	.	AC=4;AF=0.5;AN=8;DP=8;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.625;MQ=60;QD=28.29;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	2	2	0	6
chr19	57231146	57231146	-	C	UTR5	AURKC	NM_001015878:c.-103_-102insC	.	.	Spermatogenic failure 5, Autosomal recessive	65	466	590	401	0	1392	0.598967	.	.	.	334414	not_provided|Spermatogenic_Failure	MedGen:C3661900|MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4072	0.3027	0.4348	0.1299	0.4643	0.4440	0.3444	0.4291	0.0002135	33	154602	rs1222518063	0.5018	0.4825	0.5004	0.5033	0.5193	0.5008	0.5004	0.5182	0.5177	0.3396	0.4275	0.5439	0.1515	0.5479	0.4851	0.5193	0.4757	0.5051	0.4596	0.4598	0.4598	0.4594	0.5284	0.4567	0.4556	0.5239	0.5220	0.3529	0.6520	0.4464	0.5419	0.1650	0.5417	0.4795	0.5284	0.4558	0.4827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	7829.44	48	chr19	57231146	.	G	GC	7829.44	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.875;DP=511;ExcessHet=0.3701;FS=0.426;InbreedingCoeff=0.1667;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=21.16;ReadPosRankSum=0.347;SOR=0.734	GT:AD:DP:GQ:PL	0/1:29,16:45:99:385,0,809	2	4	4	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	0.35	18342.9	238	chr20	3234173	.	T	G	18342.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.381;DP=1528;ExcessHet=1.4371;FS=0;InbreedingCoeff=-0.0989;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.428;SOR=0.646	GT:AD:DP:GQ:PL	0/1:100,88:188:99:1941,0,2400	4	1	5	0
chr20	18525868	18525868	C	T	exonic	SEC23B	.	nonsynonymous SNV	SEC23B:NM_001172745:exon7:c.C770T:p.T257I,SEC23B:NM_001172746:exon7:c.C716T:p.T239I,SEC23B:NM_006363:exon7:c.C770T:p.T257I,SEC23B:NM_032985:exon7:c.C770T:p.T257I,SEC23B:NM_032986:exon7:c.C770T:p.T257I	Cowden syndrome 7, Autosomal dominant;Dyserythropoietic anemia, congenital, type II, Autosomal recessive	0	1454	65	3	0	71	0.0238335	.	.	.	800168	Congenital_dyserythropoietic_anemia,_type_II|Cowden_syndrome_7|not_provided	MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100,Orphanet:98873|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Orphanet:201|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.238	.	0.0115	0.00559105	0.0136	0.0022	0.0041	0.0003	0.0168	0.0179	0.0077	0.0160	0.013234	2046	154602	rs146917730	0.0141	0.0141	0.0141	0.0141	0.0155	0.0139	0.0139	0.0153	0.0152	0.0019	0.0042	0.0067	0.0002	0.0152	0.0120	0.0155	0.0131	0.0147	0.0100	0.0100	0.0100	0.0101	0.0161	0.0096	0.0094	0.0153	0.0150	0.0027	0.0099	0.0041	0.0040	0.0006	0.0134	0.0136	0.0161	0.0090	0.0129	0.024	0.47745	D	0.038	0.62352	D	0.046	0.21875	B	0.079	0.28749	B	0.000005	0.62929	D	0.144353	0.989857	0.41036	D	1.1	0.28011	L	-1.23	0.78860	T	-1.96	0.48354	N	0.101	0.16586	-0.7214	0.59394	T	0.156	0.48755	T	10	0.008010477	0.00182	T	.	.	.	0.238	0.54217	.	.	.	.	0.39688680427253503	0.39603	0.198364346356	0.22213	0.658021271229	0.61127	T	0.056895	0.30415	T	-0.377377	0.03236	T	-0.301227	0.44596	T	0.0318897628097559	0.02289	T	0.90421	0.66396	D	0.2039514	0.42489	0.2111504	0.45532	0.2191304	0.44437	0.21625613	0.46246	-6.764	0.52291	T	0.12273419385766678	0.11798	0.162	0.35746	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.501773	0.48999	22.7	0.99790781052984157	0.87661	0.99359	0.94992	D	AEFBI	0.778320	0.71086	D	-0.096115791111194	0.37562	2.187143	0.0898647102615493	0.44038	2.693302	0.994555085112786	0.33691	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	4.18	0.48473	6.101000	0.71131	4.133000	0.42042	0.587000	0.30956	0.966000	0.33990	1.000000	0.68203	0.997000	0.79791	0.1505:0.8495:0.0:0.0	14.185	0.65143	528	0.73785	Sec23/Sec24, trunk domain;Sec23/Sec24, trunk domain;Sec23/Sec24, trunk domain;Sec23/Sec24, trunk domain;Sec23/Sec24, trunk domain;Sec23/Sec24, trunk domain;Sec23/Sec24, trunk 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	0.013595	0.000000	0.009511	0.017544	0.050000	0.008621	0.024390	0.015152	0.05	1027.43	34	chr20	18525868	.	C	T	1027.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=386;ExcessHet=0;FS=1.843;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.736;SOR=1.022	GT:AD:DP:GQ:PL	0/1:40,40:80:99:1039,0,942	9	0	1	0
chr21	45456047	45456047	G	A	exonic	COL18A1	.	nonsynonymous SNV	COL18A1:NM_030582:exon1:c.G517A:p.G173S,COL18A1:NM_130444:exon1:c.G517A:p.G173S	Knobloch syndrome, type 1, Autosomal recessive	1	1504	16	0	1	17	0.00529101	.	.	.	215594	not_specified|Inborn_genetic_diseases|COL18A1-related_disorder|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.0281467067284	0.0027	0.00159744	0.0031	0.0006	0.0016	0	0.0055	0.0042	0.0047	0.0018	0.0029172	451	154602	rs62000960	0.0028	0.0028	0.0027	0.0028	0.0096	0.0027	0.0027	0.0075	0.0068	0.0006	0.0020	0.0016	0	0.0052	0.0096	0.0029	0.0031	0.0021	0.0027	0.0027	0.0027	0.0027	0.0045	0.0025	0.0024	0.0037	0.0033	0.0007	0.0252	0.0045	0.0009	0	0.0039	0.0068	0.0033	0.0024	0.0025	0.193	0.23631	T	0.42	0.14116	T	0.058	0.32486	B	0.04	0.30579	B	0.047472	0.01973	N	2.749370	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.3	0.33197	N	0.135	0.13198	-1.0511	0.14092	T	0.061	0.25383	T	10	0.004279703	0.00086	T	0.028147	0.50866	D	0.019	0.03383	.	.	0.218112801441	0.21410	0.13889922558036855	0.13812	0.0671947334163	0.07511	0.274283051491	0.06707	T	0.061278	0.31612	T	-0.628062	0.00098	T	-0.672609	0.07442	T	0.00253587578120646	0.00026	T	0.534647	0.17878	T	0.04192067	0.06264	0.045697678	0.06207	0.032893058	0.03400	0.048987772	0.07392	-3.779	0.23503	T	.	.	0.091	0.13268	B	.;.	.;.	-0.193884	0.03122	0.499	0.41347441968602916	0.02977	0.03009	0.07878	N	AEFBI	0.243423	0.36471	N	-1.16273116292522	0.05573	0.2544294	-1.28119554121472	0.04685	0.221552	0.999810720525362	0.43459	0.562547	0.31514	0	0.573888	0.26702	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.05	-2.65	0.05739	-1.607000	0.02173	-0.523000	0.08678	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4399:0.1388:0.4213:0.0	5.359	0.15379	680	0.59965	.;Domain of unknown function DUF959, collagen XVIII, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.007049	0.005051	0.008152	0.014620	0.000000	0.008621	0.009146	0.007576	0.05	1643.43	110	chr21	45456047	.	G	A	1643.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.542;DP=881;ExcessHet=0;FS=8.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=-1.056;SOR=1.171	GT:AD:DP:GQ:PL	0/1:42,55:97:99:1655,0,1151	9	0	1	0
chr21	46356980	46356980	C	G	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon13:c.C1589G:p.P530R,PCNT:NM_006031:exon13:c.C1943G:p.P648R	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	21	1498	3	0	0	3	0.00100033	.	.	.	208736	not_specified|Inborn_genetic_diseases|not_provided|PCNT-related_disorder	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.028	0.0264367409791	.	.	0.0001	0	0.0003	0	0	0.0001	0	6.057e-05	9.7e-05	15	154602	rs752992538	8.21e-05	8.277e-05	6.263e-05	0.0001	0.0043	7.003e-05	6.553e-05	0.0030	0.0025	8.963e-05	0.0001	0.0004	0	0	0.0043	5.576e-05	0.0001	6.957e-05	5.252e-05	5.249e-05	6.423e-05	4.028e-05	7.35e-05	2.555e-05	1.829e-05	2.846e-05	1.858e-05	2.404e-05	0	6.536e-05	0	0	0	0.0034	7.35e-05	0	0	0.376	0.11334	T	0.092	0.39954	T	0.175	0.28858	B	0.043	0.24256	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	4.93	0.01395	T	-0.02	0.07299	N	0.161	0.16864	-0.8980	0.48195	T	0.004	0.01365	T	9	0.046045095	0.03747	T	0.026437	0.49346	D	0.028	0.06331	0.307	0.27806	0.382761230579	0.37889	0.021293751230614066	0.02082	0.435177631789	0.43630	0.288303017616	0.08676	T	0.042316	0.26143	T	-0.479757	0.00742	T	-0.657615	0.08427	T	0.0291036537466376	0.01853	T	0.390461	0.09684	T	0.036052596	0.04362	0.055938385	0.09903	0.036052596	0.04362	0.055938385	0.09903	-3.739	0.19895	T	.	.	0.114	0.22717	B	.	.	1.118517	0.15040	11.54	0.86202391918116539	0.16380	0.28482	0.23566	N	AEFDGBCI	0.052614	0.09407	N	-0.941832067931214	0.09877	0.4694408	-0.989674133327664	0.10016	0.5018495	0.999646047427301	0.41316	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.83	0.721	0.17373	0.945000	0.28654	0.068000	0.14222	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2996:0.53:0.0:0.1703	4.575	0.11621	976	0.04745	.	.	.	.	.	.	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	0.003525	0.000000	0.000000	0.020468	0.000000	0.000000	0.000000	0.000000	0.05	1204.43	50	chr21	46356980	.	C	G	1204.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.101;DP=486;ExcessHet=0;FS=1.458;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.27;SOR=0.619	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1216,0,1521	9	0	1	0
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E	.	425	173	454	470	0	1394	0.801149	.	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.568983	0.565657	0.542120	0.570175	0.550000	0.517241	0.573171	0.662879	0.65	24424.0	126	chr22	43946236	.	A	G	24424.0	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.861;DP=1517;ExcessHet=7.0302;FS=0.54;InbreedingCoeff=-0.5385;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=0.218;SOR=0.757	GT:AD:DP:GQ:PL	0/1:64,68:132:99:1519,0,1586	0	3	7	0
chr22	46352338	46352338	G	A	intronic	TRMU	.	.	.	Liver failure, transient infantile, Autosomal recessive	.	.	.	.	.	.	.	0	0	.	270589	not_provided|TRMU-related_disorder|Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins|not_specified	MedGen:C3661900|.|MONDO:MONDO:0013111,MedGen:C3278664,OMIM:613070,Orphanet:217371|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.000199681	9.908e-05	0.0012	0	0	0	0	0	0	8.41e-05	13	154602	rs201372242	4.173e-05	4.173e-05	4.629e-05	3.713e-05	0.0011	3.311e-05	3.001e-05	0.0008	0.0007	0.0011	4.472e-05	0	0	0	0.0003	0	0.0003	1.159e-05	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0003	0	0	0	0	0	0.0005	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	.	.	.	.	.	.	.	.	0.05	863.43	35	chr22	46352338	.	G	A	863.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.568;DP=384;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.943;SOR=0.709	GT:AD:DP:GQ:PL	0/1:36,31:67:99:875,0,1132	9	0	1	0
chrX	71132767	71132767	-	CTCTT	intronic	MED12	.	.	.	Lujan-Fryns syndrome, X-linked recessive;Ohdo syndrome, X-linked, X-linked recessive;Opitz-Kaveggia syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	101149	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs1219529434	0.0956	0.0966	0.0997	0.0853	0.2167	0.0949	0.0946	0.2117	0.2096	0.0541	0.1017	0.0779	0.2167	0.1543	0.0965	0.0813	0.1061	0.1351	0.1337	0.1587	0.1476	0.0804	0.2432	0.1317	0.1309	0.2274	0.2211	0.0805	0.2113	0.1239	0.1098	0.2432	0.1334	0.1111	0.1574	0.1283	0.1640	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	14925.4	66	chrX	71132767	.	C	CCTCTT	14925.4	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.091;DP=474;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=28.09;ReadPosRankSum=-1.193;SOR=0.774	GT:AD:DP:GQ:PL	1/1:0,18:18:54:731,54,0	6	3	1	0
chrX	80691991	80691991	-	A	intronic	BRWD3	.	.	.	Mental retardation, X-linked 93, X-linked recessive	.	.	.	.	.	.	.	.	.	.	339610	Non-syndromic_X-linked_intellectual_disability|not_provided	MONDO:MONDO:0019181,MedGen:C3501611,OMIM:PS309530,Orphanet:777|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0705	.	0.0362	0.0431	0.0555	0.0222	0.0048	0.0301	0.0142	0.0506	0.0001153	3	26028	rs765175433	0.0360	0.1139	0.0517	0.0002	0.0470	0.0356	0.0355	0.0440	0.0429	0.0470	0.0264	0.0294	0.0261	0.0192	0.0260	0.0384	0.0372	0.0200	0.0035	0.0043	0.0038	0.0026	0.0081	0.0032	0.0031	0.0072	0.0069	0.0081	0	0.0020	0.0004	0.0015	0.0032	0	0.0015	0.0037	0.0053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	603.48	42	chrX	80691991	.	T	TA	603.48	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.179;DP=214;ExcessHet=0;FS=1.163;InbreedingCoeff=0.9433;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.14;ReadPosRankSum=0.935;SOR=0.921	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,3:3:9:.:.:78,9,0:.	9	1	0	0
chrX	154532990	154532990	C	T	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon9:c.G1093A:p.A365T,G6PD:NM_001042351:exon9:c.G1003A:p.A335T,G6PD:NM_001360016:exon9:c.G1003A:p.A335T	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	0	1498	15	9	0	33	0.0108947	.	.	YES	25402	Inborn_genetic_diseases|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Malaria,_susceptibility_to|G6PD_CHATHAM|G6PD-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|.|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.609	0.640463473904	9.5e-05	.	0.0002	0	0.0001	0.0002	0	0.0001	0.0016	0.0007	0.0001811	28	154602	rs5030869	0.0001	0.0001	9.529e-05	0.0002	0.0022	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0022	3.563e-05	0.0004	0.0017	7.98e-05	7.825e-05	7.708e-05	8.587e-05	0.0018	4.146e-05	3.011e-05	0.0007	0.0005	0	0	0	0	0	0	0	7.524e-05	0	0.0018	0.003	0.68238	D	0.009	0.70582	D	0.961	0.55431	D	0.632	0.51815	P	0.000000	0.84330	D	0.000000	0.999204	0.46326	D	1.83	0.48079	L	-4.86	0.98263	D	-0.84	0.22944	N	0.512	0.54322	1.016	0.97462	D	0.924	0.97493	D	10	0.2626309	0.43733	T	0.640463	0.96934	D	0.609	0.84666	.	.	0.992300379967	0.99221	0.8653505156550084	0.86500	1.81731878846	0.91879	0.608502745628	0.54105	T	0.753592	0.93267	D	0.170001	0.71124	D	0.430885	0.93071	D	0.076977080891245	0.09596	T	0.884712	0.60854	D	0.8069284	0.84352	0.7171555	0.83304	0.8257544	0.85611	0.75738084	0.85663	-7.3	0.56622	T	0.3153788254411631	0.41341	0.298	0.63352	B	.;.;.;.;.	.;.;.;.;.	2.540493	0.32863	19.17	0.99848937268831928	0.92838	0.45951	0.27652	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999456961947	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.77	5.77	0.91077	0.969000	0.28967	3.211000	0.36801	0.581000	0.30040	0.460000	0.26644	0.997000	0.33255	0.179000	0.21265	0.0:0.83:0.17:0.0	11.968	0.52337	80	0.96670	Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;.;Glucose-6-phosphate dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002069	0.000000	0.000000	0.007905	0.000000	0.000000	0.000000	0.005263	0.1	4019.12	37	chrX	154532990	.	C	T	4019.12	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.94;DP=489;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=29.99;ReadPosRankSum=-1.073;SOR=0.365	GT:AD:DP:GQ:PL	1/1:1,133:134:99:4042,392,0	9	1	0	0