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	NSWES882-F	WT	HH	HZ	NC
chr1	11965543	11965543	C	T	exonic	PLOD1	.	nonsynonymous SNV	PLOD1:NM_000302:exon14:c.C1534T:p.R512C,PLOD1:NM_001316320:exon15:c.C1675T:p.R559C	Ehlers-Danlos syndrome, type VI, Autosomal recessive	2	1500	18	2	0	22	0.00727995	.	.	YES	249375	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome|not_specified|Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN169374|MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.414	0.16287966263	0.0038	0.00179712	0.0035	0.0011	0.0004	0	0.0020	0.0049	0.0022	0.0037	0.0034411	532	154602	rs138490756	0.0049	0.0049	0.0049	0.0049	0.0104	0.0048	0.0048	0.0083	0.0075	0.0004	0.0008	0.0021	0	0.0028	0.0104	0.0057	0.0042	0.0035	0.0032	0.0032	0.0036	0.0028	0.0057	0.0030	0.0029	0.0052	0.0051	0.0009	0	0.0016	0.0023	0	0.0010	0.0136	0.0057	0.0024	0.0023	0.002	0.72154	D	0.009	0.66756	D	0.941	0.52883	P	0.2	0.36839	B	0.000021	0.62929	D	0.120996	0.904707	0.36258	D	0.345	0.11182	N	-1.94	0.84919	D	-3.03	0.62747	D	0.428	0.46742	-0.2701	0.75809	T	0.262	0.63274	T	10	0.013092965	0.00279	T	0.16288	0.84235	D	0.414	0.72479	.	.	0.855875980841	0.85448	0.6379520951430856	0.63729	0.41680062442	0.42316	0.247563481331	0.03515	T	0.40173	0.75895	T	-0.275741	0.11125	T	-0.165133	0.57887	T	0.0297979050361403	0.01959	T	0.943606	0.78679	D	0.25848582	0.48897	0.16500653	0.38195	0.31826228	0.54493	0.18967345	0.42326	-9.771	0.72528	D	0.12475964414831875	0.12295	0.150	0.33203	B	.	.	4.031260	0.59609	24.1	0.99820706349951294	0.90326	0.92078	0.54896	D	AEFDBI	0.778706	0.71113	D	-0.230338253826705	0.31894	1.793081	-0.167573237743813	0.32738	1.865516	0.999720114543042	0.42220	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	4.64	0.57399	0.357000	0.19935	3.919000	0.40458	0.549000	0.26987	0.990000	0.36992	1.000000	0.68203	0.966000	0.53164	0.1487:0.7081:0.1431:0.0	10.681	0.45009	778	0.48011	.	.	.	.	.	.	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	0.008560	0.010101	0.004076	0.011696	0.000000	0.008621	0.009146	0.015152	0.1	2647.14	33	chr1	11965543	.	C	T	2647.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.959;DP=539;ExcessHet=0.2348;FS=4.902;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=1.36;SOR=0.525	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1341,0,1465	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	0/1:77,83:160:99:.:.:3244,0,2962:.	3	0	7	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	1/1:0,181:181:99:5331,543,0	0	10	0	0
chr1	55063755	55063755	C	T	UTR3	PCSK9	NM_174936:c.*171C>T	.	.	Hypercholesterolemia, familial, 3	303	1201	14	4	0	22	0.00907591	.	.	.	282690	not_provided|Hypercholesterolemia,_autosomal_dominant,_3|Hypobetalipoproteinemia	MedGen:C3661900|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00199681	.	.	.	.	.	.	.	.	0.0011578	179	154602	rs557622245	0.0077	0.0084	0.0079	0.0075	0.0111	0.0075	0.0074	0.0092	0.0091	0.0014	0.0041	0.0085	0	0.0049	0.0111	0.0094	0.0073	0.0024	0.0059	0.0059	0.0062	0.0055	0.0092	0.0056	0.0055	0.0086	0.0084	0.0022	0	0.0065	0.0081	0.0002	0.0028	0.0102	0.0092	0.0052	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	548.43	59	chr1	55063755	.	C	T	548.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.527;DP=640;ExcessHet=0;FS=2.239;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.11;SOR=0.893	GT:AD:DP:GQ:PL	0/1:29,25:54:99:560,0,692	9	0	1	0
chr1	94098927	94098927	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon6:c.G635A:p.R212H	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	1	1436	80	5	0	90	0.0303849	.	.	YES	105343	Retinitis_Pigmentosa,_Recessive|not_specified|ABCA4-related_disorder|Stargardt_Disease,_Recessive|Cone-Rod_Dystrophy,_Recessive|Retinal_dystrophy|Macular_degeneration|not_provided	MedGen:CN239466|MedGen:CN169374|MedGen:CN239167|MedGen:CN239312|MedGen:CN239309|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|Human_Phenotype_Ontology:HP:0000608,Human_Phenotype_Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.716	.	0.0464	0.0533147	0.0407	0.0749	0.0368	0.0641	0.0621	0.0354	0.0404	0.0225	0.0400771	6196	154602	rs6657239	0.0388	0.0388	0.0398	0.0378	0.0710	0.0385	0.0384	0.0686	0.0677	0.0710	0.0406	0.0315	0.0615	0.0607	0.0361	0.0371	0.0434	0.0225	0.0486	0.0487	0.0486	0.0486	0.0683	0.0477	0.0473	0.0662	0.0654	0.0683	0.0340	0.0477	0.0331	0.0582	0.0544	0.0238	0.0379	0.0402	0.0290	0.061	0.37118	T	0.049	0.48336	D	1.0	0.90584	D	0.977	0.73820	D	0.000023	0.55875	D	0.071424	0.00189716	0.44513	P	2.79	0.81396	M	-2.79	0.91019	D	-2.18	0.49187	N	0.422	0.46180	0.736	0.93615	D	0.803	0.93323	D	9	0.017632037	0.00378	T	.	.	.	0.716	0.89922	.	.	.	.	0.8518054500962086	0.85142	0.118424439793	0.13333	0.295024454594	0.09661	T	0.691857	0.91048	D	-0.25192	0.13864	T	-0.0811888	0.64818	T	0.0406083414607408	0.03802	T	0.840716	0.54640	T	0.057674427	0.11508	0.085117854	0.19631	0.07019751	0.15442	0.06586416	0.13410	-4.425	0.29894	T	.	.	0.078	0.07224	B	.;.	.;.	3.276839	0.44877	22.0	0.99916667260404424	0.98449	0.93900	0.59517	D	AEFDBI	0.609576	0.59873	D	0.346446057153887	0.58553	4.028155	0.320310062087546	0.56733	3.837257	0.999992354187703	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.83	3.98	0.45383	3.199000	0.50745	1.120000	0.24235	-0.193000	0.09282	1.000000	0.71638	0.565000	0.25541	0.984000	0.60418	0.0:0.8525:0.0:0.1475	10.866	0.46060	690	0.58899	.;.	.	.	.	.	rs6657239	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.048842	0.075758	0.069293	0.035088	0.150000	0.051724	0.027439	0.030303	0.05	1446.43	39	chr1	94098927	.	C	T	1446.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.334;DP=440;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.321;SOR=0.802	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1458,0,1256	9	0	1	0
chr1	99881109	99881109	A	G	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon15:c.A1933G:p.T645A,AGL:NM_000642:exon15:c.A1933G:p.T645A,AGL:NM_000643:exon15:c.A1933G:p.T645A,AGL:NM_000644:exon15:c.A1933G:p.T645A,AGL:NM_000646:exon15:c.A1885G:p.T629A	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	516123	Glycogen_storage_disease_type_III|not_provided	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.222	0.0158302128751	.	.	4.947e-05	0	8.687e-05	0	0	7.497e-05	0	0	7.12e-05	11	154602	rs576969969	5.063e-05	5.062e-05	4.357e-05	5.776e-05	0.0004	4.126e-05	3.779e-05	0.0002	0.0002	0	0.0004	0.0002	0	0	0.0003	2.968e-05	0.0001	0.0001	5.258e-05	5.254e-05	3.855e-05	6.726e-05	0.0002	2.558e-05	1.83e-05	5.287e-05	2.835e-05	0	0	0.0002	0.0003	0	0	0	4.41e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.000001	0.62929	D	0.098546	0.928607	0.27116	N	-2.735	0.00029	N	-1.69	0.82985	D	3.15	0.00121	N	0.406	0.44952	-0.9495	0.41058	T	0.045	0.19437	T	10	0.06758392	0.09438	T	0.01583	0.36777	T	0.222	0.51872	0.602	0.73346	0.717622369731	0.71514	0.41927865779125334	0.41843	0.0405049159976	0.04339	0.355544745922	0.18736	T	0.085475	0.37509	T	-0.298889	0.08764	T	-0.350954	0.39097	T	0.0457085811075749	0.04731	T	0.80112	0.46793	T	0.05034634	0.09082	0.05491873	0.09536	0.05034634	0.09081	0.05491873	0.09536	2.418	0.00035	T	0.06861885834221801	0.02506	0.056	0.00470	B	.;.;.;.;.	.;.;.;.;.	1.372198	0.17825	13.39	0.13762743206219819	0.00282	0.52448	0.29134	D	AEFBI	0.065726	0.12835	N	-0.838138258941096	0.12343	0.6010989	-0.569308984161782	0.20295	1.092799	4.63100418470655E-4	0.07066	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.9	4.77	0.60425	4.555000	0.60477	4.634000	0.44128	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.220000	0.22462	0.7363:0.0:0.1366:0.1271	5.560	0.16421	856	0.34373	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.025862	0.000000	0.000000	0.05	669.43	47	chr1	99881109	.	A	G	669.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.751;DP=388;ExcessHet=0;FS=1.01;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.37;SOR=0.544	GT:AD:DP:GQ:PL	0/1:26,30:56:99:681,0,533	9	0	1	0
chr1	115034291	115034291	T	C	UTR3	TSHB	NM_000549:c.*64T>C;NM_001277991:c.*64T>C	.	.	Hypothryoidism, congenital, nongoitrous 4, Autosomal recessive	12	1485	21	4	0	29	0.00966989	.	.	.	862011	not_provided|Isolated_thyroid-stimulating_hormone_deficiency	MedGen:C3661900|MONDO:MONDO:0010139,MedGen:C0271789,OMIM:275100,Orphanet:90674	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00439297	.	.	.	.	.	.	.	.	0.0009444	146	154602	rs41312672	0.0055	0.0055	0.0054	0.0056	0.0217	0.0054	0.0053	0.0185	0.0173	0.0009	0.0032	0.0009	2.546e-05	0.0002	0.0217	0.0060	0.0051	0.0081	0.0039	0.0039	0.0042	0.0037	0.0089	0.0037	0.0036	0.0068	0.0061	0.0006	0	0.0059	0.0009	0	9.411e-05	0.0034	0.0064	0.0019	0.0089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	292.43	35	chr1	115034291	.	T	C	292.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.423;DP=306;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.222;SOR=0.999	GT:AD:DP:GQ:PL	0/1:17,12:29:99:304,0,513	9	0	1	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	0/1:8,16:26:99:337,0,105	2	0	8	0
chr1	160042480	160042480	C	T	exonic	KCNJ10	.	nonsynonymous SNV	KCNJ10:NM_002241:exon2:c.G53A:p.R18Q	Enlarged vestibular aqueduct, digenic, Autosomal recessive;SESAME syndrome, Autosomal recessive	0	1458	63	1	0	65	0.0218048	.	.	.	134762	Autism|Intellectual_disability|Seizure|not_specified|EAST_syndrome|not_provided|KCNJ10-related_disorder|Inborn_genetic_diseases	Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850|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|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MedGen:CN169374|MONDO:MONDO:0013005,MedGen:C2748572,OMIM:612780,Orphanet:199343|MedGen:C3661900|MedGen:CN239321|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.280	.	0.0133	0.00439297	0.0127	0.0036	0.0045	0	0.0103	0.0176	0.0176	0.0120	0.0124966	1932	154602	rs115466046	0.0151	0.0151	0.0149	0.0153	0.0241	0.0149	0.0148	0.0208	0.0196	0.0022	0.0065	0.0090	2.519e-05	0.0120	0.0241	0.0170	0.0118	0.0121	0.0108	0.0108	0.0112	0.0104	0.0173	0.0103	0.0102	0.0165	0.0162	0.0030	0	0.0088	0.0098	0	0.0092	0.0170	0.0173	0.0076	0.0106	0.095	0.31235	T	0.043	0.49942	D	0.804	0.45171	P	0.058	0.26451	B	0.231054	0.15920	N	0.588799	0.935841	0.37135	D	0.87	0.21467	L	-2.31	0.87750	D	-0.13	0.08971	N	0.029	0.00666	-0.4695	0.69742	T	0.231	0.59682	T	10	0.006738782	0.00153	T	.	.	.	0.280	0.59740	.	.	.	.	0.7183002974020145	0.71773	0.699032849931	0.61001	0.515913844109	0.41052	T	0.203116	0.56149	T	-0.457865	0.01014	T	-0.412214	0.31968	T	0.0144461831855795	0.00292	T	0.845015	0.52334	T	0.12990467	0.30326	0.11376837	0.27459	0.11837126	0.27890	0.13522652	0.32382	-1.441	0.01647	T	.	.	0.099	0.16886	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.877558	0.38066	20.6	0.99817966562497651	0.90150	0.81084	0.40564	D	AEFDBI	.	.	.	0.0845054951028284	0.45741	2.825577	0.238194253198965	0.51980	3.376168	0.999914035118239	0.45857	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.617000	0.36554	3.339000	0.37691	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.202	0.81907	797	0.45241	.;.;.;.;.;.;.	.	.	.	.	.	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	0.011078	0.000000	0.012228	0.005848	0.000000	0.025862	0.018293	0.007576	0.05	2251.43	35	chr1	160042480	.	C	T	2251.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.31;DP=472;ExcessHet=0;FS=2.835;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-2.124;SOR=0.965	GT:AD:DP:GQ:PL	0/1:72,88:160:99:2263,0,1529	9	0	1	0
chr1	162770331	162770331	G	A	exonic	DDR2	.	nonsynonymous SNV	DDR2:NM_001354982:exon12:c.G1323A:p.M441I,DDR2:NM_001354983:exon12:c.G1323A:p.M441I,DDR2:NM_006182:exon12:c.G1323A:p.M441I,DDR2:NM_001014796:exon13:c.G1323A:p.M441I	Spondylometaepiphyseal dysplasia, short limb-hand type, Autosomal recessive	0	1502	19	1	0	21	0.00694215	.	.	.	799144	Spondyloepimetaphyseal_dysplasia-short_limb-abnormal_calcification_syndrome|Connective_tissue_disorder|not_provided	MONDO:MONDO:0010077,MedGen:C1849011,OMIM:271665,Orphanet:93358|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0158	0.00579073	0.0149	0.0027	0.0060	0.0001	0.0212	0.0215	0.0132	0.0077	0.0150451	2326	154602	rs34722354	0.0185	0.0185	0.0188	0.0183	0.0212	0.0184	0.0183	0.0210	0.0209	0.0030	0.0084	0.0096	0	0.0208	0.0116	0.0212	0.0148	0.0085	0.0135	0.0135	0.0141	0.0128	0.0217	0.0130	0.0128	0.0208	0.0204	0.0031	0.0220	0.0087	0.0115	0.0002	0.0168	0	0.0217	0.0119	0.0096	0.229	0.24564	T	0.404	0.40586	T	0.008	0.14655	B	0.007	0.12992	B	0.000000	0.84330	D	0.047530	0.974628	0.39120	D	1.265	0.31966	L	-0.55	0.71068	T	-0.14	0.14193	N	0.237	0.26717	-1.0268	0.21494	T	0.108	0.39147	T	9	0.0065074265	0.00147	T	.	.	.	0.059	0.16972	0.127	0.03251	.	.	0.4439618461922525	0.44314	0.492487482805	0.47894	0.724141597748	0.70651	T	0.205225	0.56422	T	-0.410505	0.01972	T	-0.342167	0.40098	T	0.00758182329075529	0.00088	T	0.928407	0.76191	D	0.14106493	0.32520	0.1901826	0.42406	0.12814923	0.29968	0.1901826	0.42405	-7.85	0.60043	D	.	.	0.265	0.55964	B	.;.;.;.	.;.;.;.	4.186823	0.63073	24.5	0.98775910816450052	0.46049	0.88577	0.48570	D	AEFBI	0.195881	0.32290	N	-0.0634783243049029	0.39003	2.293148	0.166925838949336	0.48045	3.025905	0.945599255203693	0.27668	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	4.228000	0.58419	11.596000	0.93440	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0791:0.0:0.9209:0.0	11.989	0.52454	819	0.41190	.;.;.;.	.	.	UAP1	Cells_Cultured_fibroblasts	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.009511	0.005848	0.050000	0.000000	0.000000	0.015152	0.1	4713.14	34	chr1	162770331	.	G	A	4713.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.382;DP=716;ExcessHet=0.2348;FS=1.79;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.47;SOR=0.569	GT:AD:DP:GQ:PL	0/1:111,89:200:99:2043,0,2797	8	0	2	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0901	0.0583	0.0571	0.1111	0.0285	0.0764	0.1111	0.1608	0.0101813	265	26028	rs746838916	0.1940	0.2229	0.1966	0.1915	0.3563	0.1933	0.1931	0.3505	0.3481	0.0679	0.2628	0.2257	0.3563	0.2032	0.2132	0.1918	0.2017	0.1427	0.3472	0.3539	0.3502	0.3440	0.6153	0.3444	0.3432	0.5953	0.5872	0.1764	0.4207	0.4130	0.4226	0.6153	0.3414	0.3519	0.3888	0.3596	0.3282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	5220.75	36	chr1	168293284	.	A	AGT	5220.75	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.072;DP=863;ExcessHet=0.3131;FS=49.227;InbreedingCoeff=0.2;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=1.3;SOR=2.166	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,21:47:99:.:.:1525,643,532:.	4	0	6	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	0/1:1,25:47:99:.:.:1525,481,451:.	6	0	4	0
chr1	169529737	169529737	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.A5290G:p.M1764V	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	683	630	208	0	1046	0.433665	.	.	.	249501	Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|not_specified|not_provided	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	.	0.2894	0.308706	0.3351	0.1905	0.5327	0.2606	0.2965	0.3211	0.3469	0.3980	0.331005	51174	154602	rs6030	0.3320	0.3320	0.3303	0.3337	0.5036	0.3312	0.3309	0.4981	0.4958	0.1908	0.5036	0.2433	0.2974	0.2961	0.3432	0.3294	0.3217	0.4015	0.2994	0.2996	0.2954	0.3036	0.4414	0.2971	0.2962	0.4325	0.4289	0.1962	0.1919	0.4414	0.2414	0.2702	0.2903	0.3129	0.3306	0.3275	0.4006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.799742	0.09333	N	0.908379	1	0.08975	P	-1.195	0.00846	N	-5.02	0.98562	D	0.77	0.01949	N	0.006	0.00044	-0.4336	0.70946	T	0.433	0.77400	T	9	0.00013938546	0.00010	T	.	.	.	0.230	0.53062	.	.	.	.	0.5774194888175482	0.57670	0.0874476088007	0.09862	0.202470511198	0.00532	T	0.012008	0.10625	T	-0.558879	0.00258	T	-0.431747	0.29737	T	0.00389668243981471	0.00041	T	0.0319468	0.00204	T	0.10963965	0.25921	0.15528889	0.36408	0.11500659	0.27143	0.10465255	0.25139	-1.936	0.02949	T	0.0630923633968402	0.01915	0.051	0.00195	B	.;.	.;.	-1.215408	0.00515	0.012	0.69920481567361925	0.09127	0.03239	0.08258	N	AEFGBCIJ	0.145810	0.26911	N	-1.46881193792389	0.02073	0.09117123	-1.39284912778787	0.03328	0.1549985	0.999997398089242	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.172119	0.04147	3	0.564101	0.26826	0	.	.	5.32	-2.86	0.05376	-2.274000	0.01245	-8.462000	0.00965	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0923:0.1961:0.2724:0.4392	3.252	0.06416	772	0.48957	.;.	ATP1B1	Testis	.	.	rs6030	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.324270	0.373737	0.269022	0.406433	0.250000	0.370690	0.277439	0.352273	0.45	14363.0	41	chr1	169529737	.	T	C	14363.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.102;DP=868;ExcessHet=0.0657;FS=1.298;InbreedingCoeff=0.3939;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=0.383;SOR=0.602	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2564,270,0	4	3	3	0
chr1	169542517	169542517	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.A2573G:p.K858R	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	794	580	148	0	876	0.355519	.	.	.	249509	Thrombophilia_due_to_activated_protein_C_resistance|not_provided|Congenital_factor_V_deficiency|not_specified	MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:C3661900|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.009	.	0.2436	0.266773	0.2768	0.1782	0.4435	0.2189	0.2153	0.2598	0.2797	0.3462	0.26695	41271	154602	rs4524	0.2731	0.2732	0.2716	0.2747	0.4087	0.2724	0.2721	0.4038	0.4017	0.1804	0.4087	0.1760	0.2265	0.2171	0.2765	0.2718	0.2651	0.3467	0.2462	0.2463	0.2443	0.2481	0.3449	0.2441	0.2432	0.3341	0.3309	0.1831	0.1908	0.3418	0.1685	0.2342	0.2115	0.2381	0.2667	0.2614	0.3449	0.855	0.02705	T	0.847	0.03538	T	0.0	0.02946	B	0.0	0.01387	B	0.635169	0.10649	N	0.830320	1	0.08975	P	-1.355	0.00654	N	2.17	0.19020	T	0.21	0.04776	N	0.026	0.00527	-0.9096	0.46904	T	0.005	0.01615	T	9	0.00049877167	0.00011	T	.	.	.	0.009	0.00846	.	.	.	.	0.1337133431932104	0.13295	0.07127904727	0.07981	0.188595145941	0.00201	T	0.013326	0.11547	T	-0.869542	0.00001	T	-0.877993	0.00671	T	0.000714397847103574	0.00006	T	0.386661	0.09517	T	0.022049049	0.00842	0.030590214	0.01535	0.01725972	0.00258	0.02791734	0.00982	-3.171	0.12129	T	0.05318867320884815	0.01062	0.073	0.04477	B	.;.	.;.	-0.558016	0.01690	0.122	0.12338566367754079	0.00211	0.00494	0.02336	N	AEFBI	0.057701	0.10769	N	-1.69916646532579	0.00845	0.03654265	-1.64287359967973	0.01413	0.06388659	1.28884559717462E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.34	-1.7	0.07721	-0.613000	0.05705	-0.884000	0.07053	-1.357000	0.01185	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3402:0.1552:0.5046	5.162	0.14392	773	0.48803	.;.	.	.	.	.	rs4524	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.262336	0.303030	0.211957	0.318713	0.150000	0.275862	0.225610	0.295455	0.35	18683.9	45	chr1	169542517	.	T	C	18683.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=1.65;DP=1509;ExcessHet=1.4371;FS=1.107;InbreedingCoeff=-0.0989;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-0.333;SOR=0.801	GT:AD:DP:GQ:PL	0/1:104,99:203:99:2446,0,2491	4	1	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	1/1:0,110:110:99:3331,330,0	1	3	6	0
chr1	196743447	196743447	T	C	intronic	CFH	.	.	.	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	2	810	709	1	0	711	0.305019	0	0.028	.	865078	Age_related_macular_degeneration_4|Basal_laminar_drusen|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_specified|Atypical_hemolytic-uremic_syndrome|not_provided	MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN169374|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2585	0.2335	0.3236	0.3530	0.2551	0.2478	0.2636	0.2241	0.0001035	16	154602	rs513699	0.0899	0.2501	0.0919	0.0878	0.1935	0.0893	0.0891	0.1884	0.1864	0.0730	0.1344	0.0955	0.1935	0.1086	0.0549	0.0875	0.0860	0.0598	0.0293	0.1436	0.0285	0.0300	0.0485	0.0284	0.0280	0.0448	0.0434	0.0296	0.0038	0.0485	0.0263	0.0478	0.0280	0.0084	0.0251	0.0321	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	13845.0	226	chr1	196743447	.	T	C	13845.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=1.47;DP=1790;ExcessHet=7.0302;FS=6.558;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=56.89;MQRankSum=-14.7;QD=8.24;ReadPosRankSum=-2.07;SOR=1.322	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,92:226:99:0|1:196743447_T_C:3437,0,5233:196743447	3	0	7	0
chr1	216084721	216084721	T	C	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon25:c.A5144G:p.E1715G	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2418919	Usher_syndrome	MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0.118	0.0839974928411	.	.	.	.	.	.	.	.	.	.	.	.	.	rs528113865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.35726	T	0.051	0.47828	T	0.682	0.41464	P	0.255	0.39216	B	0.009349	0.30401	N	0.146543	0.55936	0.31270	N	2.095	0.58118	M	2.53	0.14038	T	-2.5	0.54382	D	0.307	0.34659	-1.0687	0.09701	T	0.034	0.14813	T	10	0.35739312	0.52456	T	0.083997	0.74234	D	0.118	0.32913	0.365	0.37199	0.859549306215	0.85819	0.4590324531778631	0.45821	0.0332591431423	0.03475	0.31427103281	0.12553	T	0.132794	0.46310	T	-0.218161	0.18244	T	-0.454296	0.27222	T	0.873177886009216	0.52304	D	0.618838	0.23746	T	0.12356744	0.29012	0.19337499	0.42904	0.12356744	0.29011	0.19337499	0.42903	-4.134	0.25789	T	0.5192727367931997	0.59181	0.106	0.19559	B	.	.	2.802091	0.36860	20.4	0.99780083179469448	0.86693	0.96253	0.68242	D	AEFI	0.733965	0.68024	D	0.239710966716474	0.53133	3.483528	0.305598990856147	0.55867	3.74965	0.974761762540907	0.29571	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	6.635000	0.74153	4.100000	0.41859	0.665000	0.62972	0.894000	0.31287	0.857000	0.27449	0.986000	0.61781	0.0:0.0:0.0:1.0	14.661	0.68474	748	0.52143	Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3337.43	35	chr1	216084721	.	T	C	3337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.853;DP=582;ExcessHet=0;FS=2.837;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.376;SOR=0.525	GT:AD:DP:GQ:PL	0/1:105,146:251:99:3349,0,2368	9	0	1	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q	.	440	2	22	1058	0	2138	0.998133	.	.	YES	1704217	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	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	1/1:0,125:125:99:3739,375,0	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	1/1:0,40:40:99:1434,120,0	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	1/1:0,23:23:70:1036,70,0	5	2	3	0
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	not_provided|Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG	MedGen:C3661900|MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	985.18	62	chr1	236897645	.	CT	C	985.18	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.619;DP=749;ExcessHet=15.1594;FS=1.327;InbreedingCoeff=-0.7289;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=0.648;SOR=0.797	GT:AD:DP:GQ:PL	0/1:52,7:59:4:4,0,1106	1	0	9	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	0/1:7,7:14:99:143,0,127	1	0	9	0
chr1	241500602	241500602	-	GAGAGAGAGAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	280522	Hereditary_cancer-predisposing_syndrome|Fumarase_deficiency|not_specified|Hereditary_leiomyomatosis_and_renal_cell_cancer|FH-related_disorder|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|MedGen:CN169374|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs144131869	0.0232	0.0291	0.0236	0.0228	0.0258	0.0230	0.0229	0.0256	0.0255	0.0213	0.0098	0.0087	0.0105	0.0193	0.0156	0.0258	0.0219	0.0110	0.0201	0.0218	0.0209	0.0193	0.0309	0.0195	0.0193	0.0268	0.0252	0.0264	0.0035	0.0161	0.0141	0.0309	0.0059	0.0075	0.0192	0.0184	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	4847.39	14	chr1	241500602	.	T	TGAGAGAGAGAGA	4847.39	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.178;DP=402;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=59.93;MQRankSum=0;QD=27.7;ReadPosRankSum=-0.227;SOR=0.678	GT:AD:DP:GQ:PL	0/1:7,2:9:61:61,0,290	7	0	3	0
chr2	21007033	21007033	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.A9835G:p.S3279G	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1455	64	3	0	70	0.0234899	.	.	.	215238	Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_familial,_1|not_specified|Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_type_B|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN169374|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.264	.	0.0086	0.0071885	0.0044	0.0159	0.0067	0	0	0.0039	0.0121	0.0012	0.0044307	685	154602	rs12720854	0.0033	0.0033	0.0032	0.0033	0.0565	0.0032	0.0031	0.0515	0.0495	0.0184	0.0064	0.0102	0	0.0001	0.0565	0.0025	0.0065	0.0013	0.0076	0.0077	0.0076	0.0077	0.0170	0.0073	0.0071	0.0160	0.0156	0.0170	0	0.0103	0.0136	0.0002	0	0.0646	0.0029	0.0137	0.0010	0.015	0.52492	D	0.003	0.76473	D	.	.	.	.	.	.	0.232473	0.15889	N	0.611296	0.64386	0.30592	N	.	.	.	1.1	0.39050	T	-1.98	0.45769	N	0.246	0.27792	-0.6764	0.61538	T	0.159	0.49262	T	10	0.004425019	0.00090	T	.	.	.	0.264	0.57741	.	.	0.68203097115	0.67932	0.4890100810306947	0.48821	0.0491091118445	0.05371	0.247466355562	0.03505	T	.	.	.	-0.577868	0.00199	T	-0.589218	0.13734	T	0.0582436336760406	0.06889	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.	.	1.757170	0.22349	15.58	0.98647528733884859	0.44137	0.94699	0.62026	D	AEFBHCI	0.702324	0.65873	D	0.205179900652132	0.51449	3.326111	-0.00190597407924668	0.39631	2.352652	0.999990155919605	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.6	3.41	0.38145	3.427000	0.52552	0.098000	0.14610	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.120000	0.19168	0.0:0.0:0.1512:0.8488	11.412	0.49171	861	0.33516	.	.	.	.	.	.	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	0.047835	0.080808	0.062500	0.073099	0.050000	0.094828	0.015244	0.000000	0.1	17371.1	43	chr2	21007033	.	T	C	17371.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.787;DP=1956;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.19;SOR=0.719	GT:AD:DP:GQ:PL	0/1:438,426:864:99:9454,0,10518	8	0	2	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	1/1:0,123:123:99:3537,368,0	1	6	3	0
chr2	47806752	47806753	TT	-	intronic	MSH6	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	94983	not_specified|not_provided|Breast_and/or_ovarian_cancer|Lynch_syndrome_5	MedGen:CN169374|MedGen:C3661900|MedGen:CN221562|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1323	0.1439	0.1002	0.1406	0.1805	0.1444	0.1260	0.0985	0.0002305	6	26028	rs1491083972	0.0558	0.0746	0.0554	0.0562	0.0568	0.0555	0.0553	0.0554	0.0552	0.0568	0.0478	0.0707	0.0549	0.0678	0.0488	0.0558	0.0550	0.0492	0.0039	0.0046	0.0038	0.0039	0.0069	0.0036	0.0035	0.0049	0.0042	0.0027	0	0.0027	0.0024	0.0029	0.0042	0	0.0048	0.0026	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2621.35	79	chr2	47806751	.	CTT	C	2621.35	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.901;DP=589;ExcessHet=15.1594;FS=5.305;InbreedingCoeff=-0.8182;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=6.32;ReadPosRankSum=0.78;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,6:24:46:.:.:159,0,326:.	8	0	2	0
chr2	60921756	60921756	C	A	intronic	REL	.	.	.	.	435	1060	25	2	0	29	0.0134946	0.0010	0.064	.	859182	Immunodeficiency_92|not_provided	MONDO:MONDO:0030498,MedGen:C5562039,OMIM:619652|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0037	0.00279553	0.0045	0.0015	0.0027	0	0.0030	0.0066	0.0124	0.0017	0.0042755	661	154602	rs142878172	0.0039	0.0040	0.0038	0.0041	0.0344	0.0039	0.0038	0.0304	0.0289	0.0022	0.0032	0.0258	0	0.0023	0.0344	0.0036	0.0056	0.0020	0.0038	0.0038	0.0036	0.0040	0.0047	0.0035	0.0034	0.0042	0.0041	0.0012	0	0.0042	0.0248	0	0.0034	0.0306	0.0047	0.0057	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	581.43	35	chr2	60921756	.	C	A	581.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.927;DP=353;ExcessHet=0;FS=2.952;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.287;SOR=0.275	GT:AD:DP:GQ:PL	0/1:19,26:45:99:593,0,513	9	0	1	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	0/1:4,17:21:43:372,0,43	2	2	6	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	1/1:0,4:4:12:135,12,0	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	1/1:0,3:3:9:125,9,0	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	1/1:0,2:2:6:83,6,0	0	5	0	5
chr2	113133033	113133033	C	T	UTR3	IL1RN	NM_000577:c.*162C>T;NM_001318914:c.*162C>T;NM_173843:c.*162C>T;NM_173841:c.*162C>T;NM_001379360:c.*162C>T;NM_173842:c.*162C>T	.	.	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	103	1312	92	15	0	122	0.0444283	.	.	.	283664	Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis|Autoinflammatory_syndrome|not_provided	MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.01877	.	.	.	.	.	.	.	.	0.0056209	869	154602	rs4252041	0.0351	0.0448	0.0341	0.0359	0.0658	0.0346	0.0345	0.0575	0.0543	0.0081	0.0224	0.0245	0	0.0193	0.0658	0.0430	0.0364	0.0361	0.0269	0.0269	0.0284	0.0252	0.0413	0.0262	0.0259	0.0400	0.0395	0.0076	0.0011	0.0337	0.0253	0.0006	0.0115	0.0850	0.0413	0.0303	0.0304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	290.55	10	chr2	113133033	.	C	T	290.55	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.068;DP=67;ExcessHet=0;FS=0;InbreedingCoeff=0.5285;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=24.21;ReadPosRankSum=-1.242;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,4:4:12:129,12,0	8	1	1	0
chr2	135804884	135804884	A	G	exonic	LCT	.	synonymous SNV	LCT:NM_002299:exon10:c.T4347C:p.F1449F	Lactase deficiency, congenital, Autosomal recessive	0	1459	61	2	0	65	0.0217901	.	.	.	281860	Lactose_intolerance|not_provided|LCT-related_disorder|Congenital_lactase_deficiency	Human_Phenotype_Ontology:HP:0004789,MONDO:MONDO:0100345,MedGen:C0022951|MedGen:C3661900|.|MONDO:MONDO:0009115,MedGen:C0268179,OMIM:223000,Orphanet:53690	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0070	0.00519169	0.0087	0.0011	0.0064	0	0.0188	0.0107	0.0099	0.0076	0.0083958	1298	154602	rs17699796	0.0079	0.0079	0.0075	0.0082	0.0165	0.0077	0.0077	0.0138	0.0128	0.0012	0.0057	0.0121	2.519e-05	0.0180	0.0165	0.0078	0.0079	0.0078	0.0078	0.0078	0.0070	0.0086	0.0101	0.0074	0.0073	0.0094	0.0092	0.0013	0	0.0067	0.0127	0	0.0225	0.0272	0.0101	0.0104	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.011581	0.005051	0.014946	0.011696	0.100000	0.025862	0.018293	0.003788	0.15	7303.45	35	chr2	135804884	.	A	G	7303.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.47;DP=915;ExcessHet=0.7463;FS=0.527;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.075;SOR=0.635	GT:AD:DP:GQ:PL	0/1:103,103:206:99:2451,0,2473	7	0	3	0
chr2	151546001	151546001	-	A	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282777	not_specified|Nemaline_myopathy_2|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2521	0.1709	0.2716	0.2475	0.2950	0.2447	0.2589	0.2849	0.0001921	5	26028	rs762865768	0.2760	0.2628	0.2762	0.2759	0.3185	0.2751	0.2747	0.3132	0.3111	0.2337	0.3066	0.2747	0.3185	0.2903	0.2933	0.2740	0.2796	0.2642	0.2606	0.2606	0.2567	0.2647	0.3671	0.2583	0.2574	0.3587	0.3552	0.1876	0.2989	0.3671	0.2638	0.3220	0.2881	0.2862	0.2731	0.2600	0.2294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	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	1/1:3,22:31:1:428,1,0	0	1	9	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	411.49	152	chr2	151680729	.	C	T	411.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.4;DP=854;ExcessHet=0.7463;FS=121.756;InbreedingCoeff=-0.178;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=0.502;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,15:106:78:0|1:151680729_C_T:78,0,2989:151680729	7	0	3	0
chr2	169294718	169294720	AAA	-	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	283582	not_provided|not_specified|Donnai-Barrow_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0909	0.0720	0.0505	0.0735	0.1765	0.0822	0.1111	0.1048	0.0002305	6	26028	rs759076090	0.1851	0.1738	0.1848	0.1854	0.2132	0.1842	0.1839	0.2089	0.2071	0.1690	0.1813	0.1909	0.2132	0.1973	0.1874	0.1829	0.1955	0.1769	0.0022	0.0046	0.0019	0.0024	0.0064	0.0019	0.0018	0.0042	0.0035	0.0012	0	0.0010	0.0060	0.0022	0.0020	0.0046	0.0024	0.0029	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	7058.4	58	chr2	169294717	.	TAAA	T	7058.4	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.51;DP=718;ExcessHet=0;FS=3.225;InbreedingCoeff=nan;MLEAC=6;MLEAF=0.3;MQ=59.98;MQRankSum=0;QD=28.58;ReadPosRankSum=1.4;SOR=1.362	GT:AD:DP:GQ:PL	0/1:1,3:10:25:246,45,55	4	0	6	0
chr2	171448665	171448665	-	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	295	1061	129	35	2	201	0.0857389	.	.	.	1153880	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1900	0.1440	0.2965	0.1542	0.1838	0.1738	0.1942	0.2313	0.0121408	316	26028	rs139655160	0.1523	0.1653	0.1512	0.1534	0.2241	0.1517	0.1515	0.2196	0.2178	0.1225	0.2241	0.1819	0.1751	0.1501	0.1619	0.1464	0.1560	0.1975	0.1961	0.1983	0.1956	0.1968	0.2795	0.1943	0.1935	0.2670	0.2620	0.1627	0.1681	0.2502	0.2551	0.1836	0.2003	0.2363	0.1955	0.2145	0.2795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2843.94	36	chr2	171448665	.	C	CT	2843.94	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.027;DP=350;ExcessHet=4.5998;FS=0.562;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.437;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,8:25:99:0|1:171448665_C_CT:255,0,655:171448665	4	0	6	0
chr2	171448667	171448667	C	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	305	1005	21	3	188	215	0.0132548	.	.	.	189063	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.207069	0.2822	0.2104	0.4319	0.2364	0.2448	0.2580	0.2773	0.3437	0.0139778	2161	154602	rs192861143	0.2297	0.1974	0.2282	0.2312	0.3467	0.2289	0.2286	0.3409	0.3385	0.1856	0.3467	0.2716	0.2622	0.2223	0.2208	0.2204	0.2344	0.2999	0.2054	0.2045	0.2034	0.2075	0.2886	0.2034	0.2026	0.2757	0.2706	0.1695	0.1726	0.2733	0.2593	0.1987	0.2244	0.2396	0.2008	0.2248	0.2886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2843.98	36	chr2	171448667	.	C	T	2843.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.487;DP=357;ExcessHet=4.5998;FS=0.553;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.583;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,8:25:99:0|1:171448665_C_CT:255,0,655:171448665	4	0	6	0
chr2	171458135	171458135	T	-	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	50	730	457	105	180	847	0.313587	.	.	.	1258517	not_provided|Woodhouse-Sakati_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.227835	.	.	.	.	.	.	.	.	0.0401491	1045	26028	rs58636477	0.2283	0.2354	0.2253	0.2312	0.3807	0.2275	0.2272	0.3754	0.3733	0.2227	0.3807	0.2915	0.2775	0.2308	0.2404	0.2103	0.2387	0.3067	0.2115	0.2106	0.2096	0.2136	0.2856	0.2096	0.2088	0.2729	0.2678	0.1932	0.1718	0.2748	0.2573	0.1950	0.2276	0.2413	0.1998	0.2246	0.2856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4961.06	63	chr2	171458134	.	AT	A	4961.06	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.079;DP=558;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-0.741;SOR=0.674	GT:AD:DP:GQ:PL	0/1:16,23:39:99:531,0,333	4	0	6	0
chr2	174750181	174750181	A	-	intronic	CHRNA1	.	.	.	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 1A, slow-channel, Autosomal dominant;Myasthenic syndrome, congenital, 1B, fast-channel, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	285836	Congenital_Myasthenic_Syndrome,_Dominant/Recessive|not_provided|Autosomal_recessive_multiple_pterygium_syndrome	MedGen:CN239246|MedGen:C3661900|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1009	0.2306	0.0531	0.0740	0.0576	0.0815	0.1098	0.1662	0.0003842	10	26028	rs67309103	0.1040	0.1178	0.1022	0.1057	0.2650	0.1035	0.1033	0.2601	0.2580	0.2650	0.0637	0.0864	0.1054	0.0524	0.1415	0.0962	0.1146	0.1809	0.1411	0.1427	0.1412	0.1409	0.3022	0.1394	0.1388	0.2976	0.2958	0.3022	0.0573	0.0874	0.0715	0.0814	0.0376	0.1514	0.0761	0.1283	0.2175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	13383.8	45	chr2	174750180	.	CA	C	13383.8	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.942;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=29.87;ReadPosRankSum=1.63;SOR=1.023	GT:AD:DP:GQ:PL	0/1:6,11:41:99:789,399,399	8	0	2	0
chr2	178431939	178431939	T	C	ncRNA_intronic	CHROMR	.	.	.	.	60	1169	290	3	0	296	0.112377	.	.	.	283886	Dystonia_16|not_provided	MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122138	3179	26028	rs3997877	0.2943	0.2403	0.3023	0.2867	0.3147	0.2932	0.2928	0.3134	0.3128	0.1778	0.2978	0.2815	0.3023	0.2193	0.2375	0.3147	0.2731	0.2033	0.2253	0.2283	0.2273	0.2233	0.2781	0.2233	0.2225	0.2660	0.2612	0.1598	0.3223	0.2653	0.2686	0.2781	0.2030	0.2021	0.2530	0.2250	0.2176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	423.75	8	chr2	178431939	.	T	C	423.75	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.332;DP=55;ExcessHet=0.2633;FS=0;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=0.307;SOR=1.609	GT:AD:DP:GQ:PL	0/1:6,5:11:99:167,0,211	7	0	2	1
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	not_provided|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Limb-girdle_muscular_dystrophy,_recessive|Hypertrophic_cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239352|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	320.73	113	chr2	178535858	.	GA	G	320.73	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.967;DP=1100;ExcessHet=4.5998;FS=0.669;InbreedingCoeff=-0.4242;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=0.155;SOR=0.806	GT:AD:DP:GQ:PL	0/1:65,8:75:6:6,0,1437	4	0	6	0
chr2	178663311	178663311	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon173:c.T36655G:p.L12219V	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	73	1266	106	77	0	260	0.0931232	.	.	.	221130	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified	MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0150	0.0175	0.0142	0.0246	0.0064	0.0084	0.0161	0.0471	0.0001153	3	26028	rs12994774	0.1053	0.1441	0.0997	0.1110	0.4941	0.1048	0.1046	0.4879	0.4853	0.1766	0.1914	0.1555	0.4941	0.1269	0.1625	0.0697	0.1437	0.2890	0.1768	0.2604	0.1773	0.1762	0.4475	0.1748	0.1739	0.4281	0.4203	0.2099	0.4255	0.2226	0.1839	0.4475	0.1409	0.2125	0.1303	0.1755	0.3076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	0.1	0.61326	T	.	.	.	0.026	0.00527	-0.9795	0.35117	T	0.032	0.13548	T	6	0.0017544031	0.00022	T	.	.	.	.	.	.	.	.	.	.	.	0.0842442114282	0.09510	.	.	.	.	.	.	-0.363034	0.03962	T	-0.75925	0.03139	T	0.000459135104007003	0.00004	T	0.0683932	0.00498	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.212283	0.00518	0.012	0.6304760633085309	0.07121	0.00290	0.01555	N	AEFBI	0.049581	0.08580	N	-2.27256405002745	0.00053	0.002253834	-2.33442631479677	0.00056	0.002438733	0.00319315519440736	0.09983	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.22	-4.3	0.03454	-4.205000	0.00312	.	.	-2.188000	0.00360	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3266:0.2877:0.0:0.3857	4.794	0.12634	426	0.81110	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	316.66	112	chr2	178663311	.	A	C	316.66	.	AC=4;AF=0.2;AN=20;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=0.9612;MLEAC=3;MLEAF=0.15;MQ=36.76;QD=31.67;SOR=4.804	GT:AD:DP:GQ:PL	1/1:0,7:7:21:268,21,0	8	2	0	0
chr2	178713381	178713381	-	ACAAAACAAAACAAAACAAAACAAA	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	2	139	67	12	6	97	0.246612	.	.	.	102168	TTN-related_disorder|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Hypertrophic_cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|not_provided|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive	.|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MedGen:CN239310|MedGen:CN239352	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0134	0.0009	0.0128	0.1352	0.0419	0.0060	0.0233	0.0013	0.0004528	70	154602	rs71393436	0.0103	0.0098	0.0104	0.0101	0.1457	0.0101	0.0101	0.1423	0.1409	0.0015	0.0113	0.0121	0.1457	0.0359	0.0040	0.0051	0.0121	0.0054	0.0142	0.0144	0.0126	0.0159	0.1615	0.0137	0.0135	0.1523	0.1486	0.0022	0.0066	0.0112	0.0173	0.1615	0.0368	0.0034	0.0081	0.0114	0.0089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1571.46	38	chr2	178713381	.	T	TACAAAACAAAACAAAACAAAACAAA	1571.46	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.524;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=0.7333;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=29.34;ReadPosRankSum=0;SOR=3.664	GT:AD:DP:GQ:PL	1/1:0,18:18:53:787,53,0	9	1	0	0
chr2	178741088	178741088	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.C11056T:p.P3686S,TTN:NM_001256850:exon46:c.C11194T:p.P3732S,TTN:NM_133432:exon46:c.C11431T:p.P3811S,TTN:NM_133437:exon46:c.C11632T:p.P3878S,TTN:NM_001267550:exon48:c.C12145T:p.P4049S	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	1512	10	0	0	10	0.00329598	.	.	.	56981	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided|Cardiovascular_phenotype|TTN-related_disorder|Cardiomyopathy	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.065	0.0149335683668	8.4e-05	.	0.0005	0	0.0002	0	0	0.0007	0.0022	0.0006	0.0004204	65	154602	rs201888760	0.0003	0.0003	0.0003	0.0003	0.0045	0.0003	0.0003	0.0032	0.0027	0.0001	0.0002	0.0012	0	0	0.0045	0.0003	0.0004	0.0005	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.899e-05	0.0001	0	6.537e-05	0.0009	0	0	0.0034	0.0002	0.0005	0.0006	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.23	0.63911	T	-3.11	0.64019	D	0.042	0.01498	-1.0070	0.27850	T	0.103	0.38044	T	9	0.0190306	0.00420	T	0.014934	0.35361	T	0.065	0.18881	.	.	0.0401082797425	0.02173	.	.	0.084161567983	0.09491	0.229907780886	0.01961	T	.	.	.	-0.410272	0.01979	T	-0.486555	0.23753	T	0.0187788790659381	0.00590	T	0.776822	0.43364	T	.	.	.	.	.	.	.	.	-3.086	0.11136	T	.	.	0.078	0.07036	B	.;.;.;.;.;.	.;.;.;.;.;.	0.133103	0.05285	1.780	0.67186882369169798	0.08280	0.06421	0.12426	N	AEFBI	0.143015	0.26561	N	-1.09185619617507	0.06792	0.3136976	-1.10274218165064	0.07648	0.3728313	0.744793434391157	0.23268	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	-0.66	0.10847	0.258000	0.18156	.	.	-0.775000	0.03392	0.002000	0.15269	0.002000	0.18203	0.040000	0.14268	0.0635:0.2077:0.2756:0.4532	5.038	0.13787	341	0.85936	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	3181.12	33	chr2	178741088	.	G	A	3181.12	.	AC=2;AF=0.1;AN=20;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.01;SOR=0.77	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3204,318,0	9	1	0	0
chr2	210656609	210656609	A	G	exonic	CPS1	.	nonsynonymous SNV	CPS1:NM_001875:exon30:c.A3643G:p.I1215V,CPS1:NM_001122633:exon31:c.A3643G:p.I1215V,CPS1:NM_001369256:exon31:c.A3676G:p.I1226V,CPS1:NM_001369257:exon32:c.A3643G:p.I1215V	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	1	1513	8	0	0	8	0.00263678	.	.	.	237339	Congenital_hyperammonemia,_type_I|Pulmonary_hypertension,_neonatal,_susceptibility_to|not_provided|not_specified	MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.696	0.026614360004	0.0010	0.000199681	0.0015	0.0002	0.0027	0	0	0.0021	0.0022	0.0004	0.0014359	222	154602	rs141373204	0.0011	0.0011	0.0011	0.0012	0.0111	0.0011	0.0010	0.0089	0.0081	0.0002	0.0017	0.0147	2.519e-05	0	0.0111	0.0008	0.0029	0.0006	0.0013	0.0012	0.0014	0.0011	0.0024	0.0011	0.0011	0.0017	0.0015	0.0001	0	0.0024	0.0171	0	0	0.0315	0.0009	0.0039	0.0017	0.012	0.54683	D	0.017	0.60972	D	0.619	0.39896	P	0.354	0.42942	B	0.000000	0.84330	N	0.046659	0.999316	0.46639	D	1.295	0.32453	L	-4.28	0.97126	D	-0.81	0.22294	N	0.281	0.31814	0.729	0.93531	D	0.844	0.94781	D	10	0.0088790655	0.00201	T	0.026614	0.49512	D	0.696	0.89007	.	.	0.852499549851	0.85108	0.7071783142122061	0.70659	0.202042824549	0.22620	0.478276997805	0.35819	T	0.671407	0.90251	D	-0.0158437	0.49444	T	0.191235	0.82640	D	0.0179974770087154	0.00524	T	0.779122	0.41282	T	0.57867557	0.71536	0.34298837	0.60017	0.63356006	0.74489	0.35052237	0.60660	-4.053	0.25157	T	0.1860674942653916	0.24202	0.112	0.26325	B	.;.;.	.;.;.	2.068265	0.26303	17.07	0.99799060945873042	0.88372	0.92144	0.55042	D	AEFBCI	0.943246	0.94884	D	0.284734331515722	0.55374	3.701525	0.375728509551874	0.60071	4.19087	0.720234988366096	0.22923	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	6.08	4.94	0.64645	5.815000	0.68892	2.068000	0.30429	0.665000	0.62972	1.000000	0.71638	0.774000	0.26724	0.996000	0.76049	0.9211:0.0:0.0789:0.0	10.605	0.44578	427	0.81056	.;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold;.	.	.	.	.	.	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	0.011078	0.020202	0.013587	0.017544	0.000000	0.017241	0.000000	0.003788	0.1	957.14	34	chr2	210656609	.	A	G	957.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.22;DP=437;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.113;SOR=0.632	GT:AD:DP:GQ:PL	0/1:28,18:46:99:369,0,684	8	0	2	0
chr2	215025664	215025664	A	G	intronic	ABCA12	.	.	.	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	284629	ABCA12-related_disorder|not_provided|Congenital_ichthyosis_of_skin	.|MedGen:C3661900|MedGen:C0020758	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0005	0.0002	0	0	0	0.0007	0.0011	0.0003	0.0004463	69	154602	rs372326315	0.0011	0.0011	0.0012	0.0011	0.0014	0.0011	0.0011	0.0013	0.0013	0.0002	0.0001	0.0002	0	0.0001	0	0.0014	0.0007	0.0006	0.0006	0.0006	0.0007	0.0005	0.0011	0.0005	0.0005	0.0009	0.0008	0.0002	0	7.786e-05	0	0	0.0003	0	0.0011	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	418.43	51	chr2	215025664	.	A	G	418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.017;DP=382;ExcessHet=0;FS=8.346;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.116;SOR=2.247	GT:AD:DP:GQ:PL	0/1:17,18:35:99:430,0,412	9	0	1	0
chr2	222201817	222201817	-	A	UTR3	PAX3	NM_181457:c.*106_*107insT	.	.	Craniofacial-deafness-hand syndrome, Autosomal dominant;Rhabdomyosarcoma 2, alveolar, Autosomal recessive;Waardenburg syndrome, type 1, Autosomal dominant;Waardenburg syndrome, type 3, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	287842	Waardenburg_syndrome|Craniofacial-deafness-hand_syndrome|not_provided	MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440|MONDO:MONDO:0007395,MedGen:C1852510,OMIM:122880,Orphanet:1529|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs552778546	0.2754	0.2853	0.2770	0.2737	0.2818	0.2746	0.2743	0.2809	0.2806	0.2280	0.1885	0.2779	0.2631	0.2428	0.2626	0.2818	0.2750	0.2734	0.2393	0.2287	0.2376	0.2413	0.3120	0.2371	0.2362	0.2977	0.2919	0.2002	0.1987	0.2236	0.2809	0.3104	0.2498	0.3211	0.2518	0.2275	0.3120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	581.85	19	chr2	222201817	.	C	CA	581.85	.	AC=3;AF=0.167;AN=18;BaseQRankSum=0.501;DP=211;ExcessHet=1.4371;FS=0;InbreedingCoeff=-0.1608;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.54;ReadPosRankSum=0.66;SOR=0.706	GT:AD:DP:GQ:PL	1/0:1,6:11:61:223,67,61	6	0	3	1
chr2	222221236	222221236	G	T	exonic	PAX3	.	nonsynonymous SNV	PAX3:NM_001127366:exon6:c.C941A:p.T314K,PAX3:NM_181457:exon6:c.C944A:p.T315K,PAX3:NM_181458:exon6:c.C944A:p.T315K,PAX3:NM_181459:exon6:c.C944A:p.T315K,PAX3:NM_181460:exon6:c.C944A:p.T315K,PAX3:NM_181461:exon6:c.C944A:p.T315K	Craniofacial-deafness-hand syndrome, Autosomal dominant;Rhabdomyosarcoma 2, alveolar, Autosomal recessive;Waardenburg syndrome, type 1, Autosomal dominant;Waardenburg syndrome, type 3, Autosomal recessive, Autosomal dominant	2	1456	62	2	0	66	0.0221625	.	.	.	215772	not_specified|Waardenburg_syndrome_type_1|Craniofacial-deafness-hand_syndrome|Waardenburg_syndrome|not_provided|Congenital_diaphragmatic_hernia	MedGen:CN169374|MONDO:MONDO:0008670,MedGen:C1847800,OMIM:193500,Orphanet:894|MONDO:MONDO:0007395,MedGen:C1852510,OMIM:122880,Orphanet:1529|MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.396	.	0.0278	0.0131789	0.0266	0.0065	0.0143	0	0.0369	0.0362	0.0297	0.0193	0.0257888	3987	154602	rs2234675	0.0367	0.0368	0.0370	0.0365	0.0418	0.0365	0.0364	0.0415	0.0413	0.0055	0.0143	0.0223	2.519e-05	0.0381	0.0161	0.0418	0.0317	0.0205	0.0253	0.0254	0.0260	0.0246	0.0402	0.0246	0.0244	0.0390	0.0385	0.0065	0.0318	0.0133	0.0248	0.0002	0.0371	0.0170	0.0402	0.0199	0.0178	0.008	0.58626	D	0.172	0.38450	T	0.837	0.46346	P	0.559	0.49531	P	0.000003	0.62929	D	0.103312	0.999995	0.58761	D	1.83	0.48079	L	-3.38	0.94260	D	-2.61	0.56144	D	0.274	0.55453	0.072	0.83665	D	0.491	0.80688	T	10	0.005897939	0.00132	T	.	.	.	0.396	0.71084	.	.	.	.	0.48715641716572666	0.48635	0.790193635219	0.65741	0.597164154053	0.52505	T	0.596076	0.86986	D	-0.15255	0.27912	T	0.0424034	0.73084	D	0.031317736279888	0.02196	T	0.951205	0.81406	D	0.2982129	0.52744	0.5293505	0.72806	0.3795597	0.59285	0.5293505	0.72807	-7.793	0.68051	D	0.2321689578727162	0.31422	0.678	0.72054	P	.;.;.;.;.;.	.;.;.;.;.;.	4.958886	0.81980	27.7	0.98888459625850189	0.47966	0.99067	0.90742	D	AEFBI	0.957363	0.97650	D	0.519257826346794	0.68229	5.188516	0.640730610094269	0.77921	6.773582	0.999999999923246	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.06	6.06	0.98340	9.602000	0.97623	11.920000	0.99804	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	20.621	0.99492	826	0.39940	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016616	0.010101	0.013587	0.008772	0.050000	0.008621	0.030488	0.015152	0.05	566.43	34	chr2	222221236	.	G	T	566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=366;ExcessHet=0;FS=4.201;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=1.27;SOR=1.519	GT:AD:DP:GQ:PL	0/1:24,24:48:99:578,0,512	9	0	1	0
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	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	1/1:1,93:94:99:2476,271,0	3	2	5	0
chr2	233760233	233760233	-	AT	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	27314	Crigler-Najjar_syndrome|not_specified|UGT1A1-related_disorder|not_provided|Crigler-Najjar_syndrome,_type_II|BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1|Lucey-Driscoll_syndrome|Gilbert_syndrome|Crigler-Najjar_syndrome_type_1|Irinotecan_response	MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C1866173,OMIM:601816|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MedGen:CN077989	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|drug_response|other	.	.	.	.	.	.	.	.	.	.	.	0.32528	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs34983651	0.3008	0.3073	0.2983	0.3034	0.3582	0.3001	0.2997	0.3546	0.3532	0.3449	0.2826	0.3392	0.1204	0.3429	0.3139	0.2993	0.3013	0.3582	0.3460	0.3472	0.3436	0.3485	0.4077	0.3435	0.3425	0.3928	0.3907	0.3979	0.4218	0.3198	0.3809	0.1263	0.4167	0.3231	0.3199	0.3187	0.4077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	853.1	25	chr2	233760233	.	C	CAT	853.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.967;DP=158;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2011;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=-0.233;SOR=0.571	GT:AD:DP:GQ:PL	0/1:1,3:4:26:100,0,26	6	1	3	0
chr3	10064724	10064724	C	T	intronic	FANCD2	.	.	.	Fanconi anemia, complementation group D2, Autosomal recessive	0	1353	169	0	0	169	0.0587826	0	0.002	.	215265	Fanconi_anemia_complementation_group_A|Hereditary_breast_ovarian_cancer_syndrome|not_provided|Fanconi_anemia_complementation_group_D2|Fanconi_anemia|not_specified	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0063	0.0008	0.0058	0.0009	0.0020	0.0022	0.0013	5.82e-05	9	154602	rs4019784	0.0006	0.0104	0.0006	0.0006	0.0171	0.0006	0.0006	0.0141	0.0130	0.0010	0.0002	0.0004	0.0028	0.0031	0.0171	0.0003	0.0011	0.0006	0.0021	0.0255	0.0020	0.0022	0.0034	0.0019	0.0018	0.0029	0.0027	0.0034	0.0012	0.0025	0.0013	0.0032	0.0020	0	0.0012	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	426.45	38	chr3	10064724	.	C	T	426.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.03;DP=446;ExcessHet=0.7463;FS=6.7;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=56.93;MQRankSum=-7.427;QD=2.33;ReadPosRankSum=-1.686;SOR=1.398	GT:AD:DP:GQ:PL	0/1:53,13:66:99:210,0,1392	7	0	3	0
chr3	10289773	10289773	G	T	exonic	GHRL	.	nonsynonymous SNV	GHRL:NM_001134944:exon2:c.C178A:p.L60M,GHRL:NM_001134945:exon2:c.C175A:p.L59M,GHRL:NM_001302825:exon3:c.C214A:p.L72M,GHRL:NM_001134941:exon4:c.C211A:p.L71M,GHRL:NM_001302822:exon4:c.C214A:p.L72M,GHRL:NM_001302823:exon4:c.C211A:p.L71M,GHRL:NM_001302824:exon4:c.C214A:p.L72M,GHRL:NM_016362:exon4:c.C214A:p.L72M,GHRL:NM_001302821:exon5:c.C214A:p.L72M	.	376	1002	128	16	0	160	0.0739372	.	.	.	20101	not_provided|Inherited_obesity|Metabolic_syndrome,_susceptibility_to|Obesity,_age_at_onset_of|Obesity	MedGen:C3661900|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|MedGen:C2676079|MedGen:C4016925|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	.	0.0588	0.0832668	0.0856	0.0200	0.0399	0.1930	0.1250	0.0847	0.1134	0.0889	0.0837505	12948	154602	rs696217	0.0829	0.0833	0.0823	0.0834	0.1932	0.0825	0.0823	0.1896	0.1881	0.0185	0.0506	0.1274	0.1932	0.1238	0.0611	0.0785	0.0865	0.0892	0.0727	0.0730	0.0696	0.0759	0.1951	0.0716	0.0711	0.1850	0.1810	0.0217	0.0352	0.0728	0.1269	0.1951	0.1366	0.0816	0.0810	0.0705	0.0913	0.112	0.51853	T	0.191	0.59732	T	1.0	0.90584	D	0.999	0.92359	D	0.067916	0.21708	N	0.330746	0.982043	0.58761	P	2.36	0.67893	M	1.38	0.60734	T	-0.42	0.26843	N	0.377	0.43706	-1.0407	0.17101	T	0.001	0.00255	T	9	0.0015681088	0.00018	T	.	.	.	0.124	0.34239	.	.	.	.	0.1238158666168449	0.12307	0.0539738033869	0.05963	0.447462975979	0.31598	T	0.192568	0.54777	T	-0.475863	0.00782	T	-0.3125	0.43390	T	0.024983608988191	0.01270	T	0.712529	0.42343	T	0.102517754	0.24226	0.08301495	0.18992	0.102517754	0.24226	0.08301495	0.18992	-4.801	0.36808	T	0.27672248696563045	0.37134	0.160	0.36012	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.498192	0.48928	22.7	0.99158779589247237	0.54043	0.74171	0.36280	D	AEFDBCI	0.170422	0.29733	N	0.386817246144049	0.60708	4.262665	0.260991158776893	0.53276	3.497412	0.998737675853913	0.37559	0.533608	0.22052	0	0.573116	0.20632	0	0.536957	0.11973	0	0.638833	0.57524	0	.	.	4.34	3.44	0.38486	2.297000	0.43254	5.210000	0.47963	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.486000	0.28701	0.1118:0.0:0.8882:0.0	8.378	0.31614	715	0.56137	Motilin/ghrelin-associated peptide;.;.;.;.;.;Motilin/ghrelin-associated peptide;Motilin/ghrelin-associated peptide	LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Esophagus_Muscularis|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood	IRAK2|IRAK2|GHRL	Adipose_Subcutaneous|Small_Intestine_Terminal_Ileum|Whole_Blood	rs696217	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.076032	0.095960	0.061141	0.064327	0.050000	0.077586	0.094512	0.064394	0.15	3876.45	34	chr3	10289773	.	G	T	3876.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.32;DP=597;ExcessHet=0.7463;FS=3.505;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.616;SOR=0.532	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1099,0,1225	7	0	3	0
chr3	11348028	11348028	C	T	exonic	ATG7	.	nonsynonymous SNV	ATG7:NM_001144912:exon11:c.C1160T:p.P387L,ATG7:NM_001349236:exon11:c.C1160T:p.P387L,ATG7:NM_001349238:exon11:c.C344T:p.P115L,ATG7:NM_001136031:exon12:c.C1277T:p.P426L,ATG7:NM_006395:exon12:c.C1277T:p.P426L,ATG7:NM_001349233:exon13:c.C1277T:p.P426L,ATG7:NM_001349234:exon13:c.C1277T:p.P426L,ATG7:NM_001349235:exon13:c.C1277T:p.P426L,ATG7:NM_001349232:exon14:c.C1277T:p.P426L	.	427	1080	15	0	0	15	0.00689655	.	.	.	1668941	NAFLD1|Spinocerebellar_ataxia,_autosomal_recessive_31|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MONDO:MONDO:0030323,MedGen:C5543627,OMIM:619422|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.548	0.170082352553	0.0007	0.000399361	0.0011	0.0005	0.0003	0	0.0002	0.0014	0	0.0019	0.0010867	168	154602	rs143545741	0.0014	0.0014	0.0014	0.0015	0.0047	0.0014	0.0013	0.0033	0.0029	0.0001	0.0008	3.833e-05	0	0.0002	0.0047	0.0016	0.0011	0.0023	0.0009	0.0009	0.0010	0.0009	0.0021	0.0008	0.0008	0.0012	0.0011	0.0002	0.0121	0.0005	0	0	0.0003	0.0102	0.0014	0.0014	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.165	0.97651	H	0.73	0.50721	T	-10.0	0.98823	D	0.965	0.97535	0.400	0.89097	D	0.530	0.82554	D	10	0.18800867	0.34336	T	0.170082	0.84773	D	0.548	0.81252	.	.	0.956588408944	0.95612	0.8616706473677921	0.86131	0.951127366345	0.72634	0.6772762537	0.63878	T	0.738446	0.92736	D	0.00510262	0.52356	T	0.228386	0.84589	D	0.782874047756195	0.45231	D	0.956004	0.89015	D	0.97037166	0.98295	0.93351585	0.97335	0.97037166	0.98295	0.93351585	0.97336	-10.787	0.78856	D	.	.	0.722	0.74650	P	.;.;.	.;.;.	4.950481	0.81771	27.6	0.99894003545533616	0.96742	0.98369	0.82077	D	AEFBI	0.844561	0.76151	D	1.1214979573127	0.98513	18.49366	1.02809730580699	0.99099	20.672	0.999999999999863	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	7.455000	0.79783	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	20.478	0.99191	660	0.61921	.;.;THIF-type NAD/FAD binding fold	.	.	.	.	.	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	0.004044	0.000000	0.005435	0.002924	0.000000	0.000000	0.006173	0.003788	0.05	892.43	33	chr3	11348028	.	C	T	892.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.587;DP=378;ExcessHet=0;FS=3.618;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.063;SOR=0.331	GT:AD:DP:GQ:PL	0/1:30,37:67:99:904,0,819	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	0/1:0,2:4:78:.:.:177,86,78:.	2	2	6	0
chr3	149141200	149141200	-	TTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	0	74	22	0	130	152	0.129412	.	.	.	289084	Hermansky-Pudlak_syndrome|not_provided	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1528	0.0855	0.1686	0.1749	0.2173	0.1539	0.1706	0.1422	0.0001153	3	26028	rs111598115	0.1433	0.1582	0.1438	0.1429	0.1571	0.1428	0.1426	0.1536	0.1522	0.0970	0.1463	0.1186	0.1571	0.1933	0.0911	0.1440	0.1425	0.1265	0.1545	0.1568	0.1526	0.1565	0.1932	0.1528	0.1521	0.1873	0.1848	0.1476	0.0835	0.1932	0.1594	0.1759	0.2204	0.1434	0.1430	0.1580	0.1278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	48359.7	414	chr3	149141200	.	C	CTTTT	48359.7	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.377;DP=2716;ExcessHet=0.3131;FS=1.937;InbreedingCoeff=0.2;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=24.31;ReadPosRankSum=0.508;SOR=0.901	GT:AD:DP:GQ:PL	0/1:145,44:265:99:2235,0,6208	7	0	3	0
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	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	0/1:7,11:18:99:257,0,144	4	1	5	0
chr3	165773492	165773492	C	T	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon4:c.G1699A:p.A567T	Apnea, postanesthetic (3)	44	964	416	98	0	612	0.240945	.	.	YES	28259	Deficiency_of_butyrylcholinesterase|not_specified|not_provided|Butyrylcholinesterase_activity	MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.136	.	0.1977	0.158546	0.1891	0.1966	0.1155	0.1183	0.1714	0.2109	0.1991	0.1939	0.179157	27698	154602	rs1803274	0.1952	0.1965	0.1955	0.1949	0.2300	0.1946	0.1944	0.2197	0.2156	0.1919	0.1175	0.1779	0.1388	0.1691	0.2300	0.2027	0.1945	0.1868	0.1828	0.1828	0.1846	0.1809	0.1978	0.1810	0.1802	0.1950	0.1939	0.1886	0.2121	0.1383	0.1763	0.1173	0.1653	0.2007	0.1978	0.1835	0.1677	0.093	0.31532	T	0.15	0.37872	T	0.001	0.07471	B	0.012	0.16012	B	0.019382	0.27268	N	0.339910	0.933173	0.27002	P	2.455	0.71248	M	-0.18	0.77336	T	-0.52	0.38151	N	0.036	0.01068	-1.0170	0.24690	T	0.001	0.00222	T	9	0.0018072128	0.00024	T	.	.	.	0.136	0.36778	.	.	.	.	0.26196509411827273	0.26109	0.0146452542494	0.01391	0.319616317749	0.13362	T	0.358518	0.74836	T	-0.467858	0.00877	T	-0.301002	0.44619	T	0.0211996116972123	0.00822	T	0.774123	0.42528	T	0.22133149	0.44708	0.23066719	0.48175	0.23999383	0.46897	0.20989761	0.45352	-5.147	0.38398	T	.	.	0.085	0.16538	B	.;.	.;.	3.292023	0.45157	22.1	0.99632838182915928	0.76142	0.91322	0.53300	D	AEFI	0.801494	0.72719	D	-0.00633166657305249	0.41567	2.488702	0.123040286207381	0.45729	2.831012	0.00173072517578264	0.08818	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.03	4.14	0.47821	4.438000	0.59704	2.697000	0.34132	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9138:0.0:0.0862	11.972	0.52358	900	0.24599	Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain;Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain	BCHE	Heart_Atrial_Appendage	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.201010	0.212121	0.191576	0.211310	0.250000	0.146552	0.240854	0.196970	0.35	6016.93	70	chr3	165773492	.	C	T	6016.93	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.407;DP=560;ExcessHet=1.4371;FS=0.795;InbreedingCoeff=-0.0989;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=1.06;SOR=0.645	GT:AD:DP:GQ:PL	0/1:41,24:65:99:499,0,1004	4	1	5	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	0/1:112,131:243:99:3545,0,3012	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	0/1:91,124:215:99:3125,0,1983	0	5	5	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	432	231	483	376	0	1235	0.727755	.	.	.	1276892	not_provided|Hereditary_attention_deficit-hyperactivity_disorder	MedGen:C3661900|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	13081.0	99	chr4	9783510	.	T	C	13081.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.042;DP=768;ExcessHet=0.0657;FS=2.059;InbreedingCoeff=0.3939;MLEAC=9;MLEAF=0.45;MQ=59.99;MQRankSum=0;QD=21.73;ReadPosRankSum=0.131;SOR=0.906	GT:AD:DP:GQ:PL	1/1:0,101:101:99:3010,303,0	4	3	3	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	1/1:0,208:208:99:6439,623,0	0	9	1	0
chr4	103145116	103145116	T	G	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon31:c.A4716C:p.R1572S,CENPE:NM_001813:exon32:c.A4791C:p.R1597S	.	496	1024	1	1	0	3	0.0014627	.	.	.	428244	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	.	0.0047	0.00319489	0.0042	0.0011	0.0037	0	0.0011	0.0065	0.0011	0.0008	0.0042949	664	154602	rs61751594	0.0054	0.0054	0.0054	0.0054	0.0065	0.0053	0.0052	0.0064	0.0063	0.0008	0.0035	0.0026	5.048e-05	0.0009	0.0019	0.0065	0.0046	0.0008	0.0042	0.0042	0.0045	0.0039	0.0070	0.0040	0.0039	0.0065	0.0063	0.0013	0	0.0050	0.0023	0.0002	0.0008	0.0102	0.0070	0.0085	0	0.411	0.10115	T	0.094	0.39645	T	0.968	0.59353	D	0.655	0.55577	P	.	.	.	.	0.999999	0.08975	N	2.075	0.57047	M	-0.39	0.70133	T	-1.13	0.29114	N	0.129	0.12913	-0.8139	0.54312	T	0.192	0.54463	T	9	0.0038477182	0.00073	T	.	.	.	0.230	0.53062	0.13	0.03494	0.797680560102	0.79579	0.07355365648093938	0.07292	0.0425273998097	0.04582	0.274155676365	0.06690	T	0.050411	0.28586	T	-0.39824	0.02378	T	-0.340675	0.40267	T	0.0200367182582501	0.00704	T	0.60444	0.22695	T	0.052448664	0.09784	0.05287378	0.08797	0.083455764	0.19272	0.06080644	0.11639	-4.334	0.28651	T	0.3300402619742247	0.42807	0.251	0.49275	B	.;.;.	.;.;.	0.458822	0.08286	5.032	0.89292736420364571	0.18673	0.07829	0.13823	N	AEFBHCI	0.074405	0.14912	N	-0.92808812049102	0.10189	0.4857249	-1.12977914093483	0.07136	0.3459941	0.867737134070025	0.25352	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	4.19	-3.12	0.04959	-1.062000	0.03579	-3.637000	0.02640	-0.228000	0.07776	0.000000	0.06391	0.000000	0.08366	0.917000	0.45243	0.0:0.3624:0.0:0.6376	10.083	0.41572	911	0.21964	.;.;.	.	.	.	.	.	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	0.003525	0.005051	0.001359	0.000000	0.000000	0.000000	0.012195	0.003788	0.05	649.43	39	chr4	103145116	.	T	G	649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.579;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.55;SOR=0.892	GT:AD:DP:GQ:PL	0/1:20,29:49:99:661,0,502	9	0	1	0
chr4	153703504	153703504	T	C	exonic	TLR2	.	synonymous SNV	TLR2:NM_001318789:exon3:c.T597C:p.N199N,TLR2:NM_001318790:exon3:c.T597C:p.N199N,TLR2:NM_001318791:exon3:c.T597C:p.N199N,TLR2:NM_001318793:exon3:c.T597C:p.N199N,TLR2:NM_001318795:exon3:c.T597C:p.N199N,TLR2:NM_001318796:exon3:c.T597C:p.N199N,TLR2:NM_003264:exon3:c.T597C:p.N199N,TLR2:NM_001318787:exon4:c.T597C:p.N199N	.	433	374	514	201	0	916	0.550481	.	.	.	3197327	TLR2-related_disorder|COVID-19–associated_multisystem_inflammatory_syndrome_in_adults	.|MONDO:MONDO:0100319,MedGen:CN305503	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4947	0.414736	0.4113	0.6113	0.3166	0.2941	0.3755	0.4353	0.3833	0.3322	0.410745	63502	154602	rs3804099	0.4315	0.4315	0.4342	0.4288	0.6172	0.4306	0.4302	0.6102	0.6073	0.6172	0.3330	0.4315	0.3037	0.3765	0.4539	0.4448	0.4302	0.3318	0.4694	0.4697	0.4773	0.4612	0.6193	0.4665	0.4653	0.6129	0.6103	0.6193	0.3282	0.3800	0.4441	0.2870	0.3791	0.4592	0.4393	0.4748	0.3266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.447130	0.444444	0.479620	0.485380	0.650000	0.500000	0.384146	0.409091	0.45	15882.0	149	chr4	153703504	.	T	C	15882.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.259;DP=1208;ExcessHet=5.1594;FS=0.53;InbreedingCoeff=-0.4141;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0.758;SOR=0.638	GT:AD:DP:GQ:PL	0/1:40,54:94:99:1252,0,962	2	1	7	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	0/1:68,83:151:99:2145,0,1622	4	0	6	0
chr5	256320	256321	CT	-	intronic	SDHA	.	.	.	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	2	837	682	1	0	684	0.290076	.	.	.	297301	SDHA-related_disorder|Mitochondrial_complex_II_deficiency,_nuclear_type_1|not_provided|Leigh_syndrome|Paragangliomas_5|Pheochromocytoma|Hereditary_cancer-predisposing_syndrome|not_specified	.|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	8.255e-06	0	0	0	0	1.499e-05	0	0	0.0031889	83	26028	rs372662724	0.0587	0.1488	0.0629	0.0545	0.0712	0.0583	0.0582	0.0708	0.0706	0.0457	0.0112	0.0178	0.0073	0.0091	0.0398	0.0712	0.0454	0.0146	0.0009	0.0171	0.0008	0.0010	0.0012	0.0007	0.0007	0.0009	0.0008	0.0012	0.0012	0.0010	0.0003	0.0004	0.0010	0.0035	0.0007	0.0016	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1530.53	150	chr5	256319	.	ACT	A	1530.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.087;DP=843;ExcessHet=1.5895;FS=0.795;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.07;MQRankSum=-12.18;QD=2.43;ReadPosRankSum=1.3;SOR=0.613	GT:AD:DP:GQ:PL	0/1:121,13:134:99:182,0,5032	6	0	4	0
chr5	13737270	13737270	G	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon66:c.C11437T:p.R3813W	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1512	9	1	0	11	0.00362438	.	.	.	229247	not_specified|not_provided|Primary_ciliary_dyskinesia_3|Primary_ciliary_dyskinesia|DNAH5-related_disorder	MedGen:CN169374|MedGen:C3661900|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	.	.	.	.	.	.	.	.	0.817	0.0761357794629	0.0017	0.000399361	0.0015	0.0006	0.0002	0	0	0.0024	0.0033	0.0007	0.0013971	216	154602	rs140948493	0.0015	0.0015	0.0015	0.0014	0.0016	0.0014	0.0014	0.0016	0.0016	0.0005	0.0004	0.0034	7.557e-05	0.0004	0.0009	0.0016	0.0018	0.0007	0.0011	0.0011	0.0012	0.0010	0.0017	0.0009	0.0009	0.0014	0.0013	0.0002	0	0.0010	0.0040	0.0002	0	0	0.0017	0.0024	0.0006	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.67	0.99414	H	0.55	0.54728	T	-7.06	0.93879	D	0.971	0.98167	0.611	0.92040	D	0.580	0.84898	D	10	0.31398964	0.48844	T	0.076136	0.72457	D	0.817	0.94123	.	.	0.875734566224	0.87452	0.8775822651991114	0.87725	0.344227870731	0.36350	0.769668221474	0.77375	T	0.780787	0.94211	D	-0.021285	0.48669	T	0.183419	0.82191	D	0.149819801242789	0.17089	T	0.989301	0.96450	D	0.77637196	0.82432	0.66963506	0.80619	0.77637196	0.82433	0.66963506	0.80620	-13.45	0.91131	D	0.6801911131535268	0.75647	0.655	0.71136	P	.	.	4.246224	0.64416	24.7	0.99889381502311902	0.96359	0.96614	0.70026	D	AEFDI	0.795837	0.72314	D	0.929949721782846	0.93148	11.85168	0.778632072357556	0.88271	9.519996	0.944380329058031	0.27613	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.44	4.56	0.55644	4.487000	0.60022	4.419000	0.43309	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8601:0.1399	15.439	0.74892	889	0.27310	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	573.43	33	chr5	13737270	.	G	A	573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.64;SOR=0.709	GT:AD:DP:GQ:PL	0/1:32,23:55:99:585,0,753	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	1/0:0,8:12:3:429,50,14	3	0	7	0
chr5	38528850	38528851	AC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303937	not_provided|Stuve-Wiedemann_syndrome|Stüve-Wiedemann_syndrome_1	MedGen:C3661900|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MONDO:MONDO:0800043,MedGen:C5676888,OMIM:601559,Orphanet:3206	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3454	0.2017	0.3103	0.2720	0.2788	0.3796	0.3684	0.3566	0.0001423	22	154602	rs34759137	0.2992	0.3291	0.2912	0.3066	0.3471	0.2982	0.2977	0.3382	0.3366	0.1605	0.2828	0.4123	0.2437	0.3501	0.3471	0.2931	0.3145	0.3421	0.3263	0.3064	0.3244	0.3283	0.4408	0.3237	0.3227	0.4237	0.4168	0.1328	0.3872	0.3252	0.5692	0.3125	0.3579	0.4286	0.4208	0.3804	0.4408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4157.25	43	chr5	38528849	.	GAC	G	4157.25	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.671;DP=398;ExcessHet=0.3701;FS=0;InbreedingCoeff=0.167;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=19.52;ReadPosRankSum=-0.189;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:11,6:20:86:.:.:176,0,274:.	4	0	6	0
chr5	55227016	55227016	C	T	intronic	MCIDAS	.	.	.	.	412	1067	42	1	0	44	0.020202	0.0700	0.334	YES	239857	not_provided|Primary_ciliary_dyskinesia|Ciliary_dyskinesia,_primary,_42	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0032872,MedGen:C5231464,OMIM:618695	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0067	0	0	0	.	0.0040	0.0189	0.0077	0.0012419	192	154602	rs186341559	0.0046	0.0044	0.0044	0.0048	0.0279	0.0045	0.0045	0.0243	0.0230	0.0018	0.0063	0.0037	0	0.0014	0.0279	0.0045	0.0060	0.0075	0.0035	0.0035	0.0035	0.0034	0.0060	0.0032	0.0031	0.0045	0.0043	0.0010	0.0198	0.0034	0.0035	0	0.0011	0.0616	0.0049	0.0071	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	327.43	36	chr5	55227016	.	C	T	327.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.025;DP=351;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-0.672;SOR=0.602	GT:AD:DP:GQ:PL	0/1:16,15:31:99:339,0,374	9	0	1	0
chr5	90776525	90776525	A	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon61:c.A12476C:p.H4159P	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1510	12	0	0	12	0.00395778	.	.	.	55425	Usher_syndrome_type_2C|ADGRV1-related_disorder|not_provided|not_specified	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	0.0797468953248	.	0.000199681	0.0007	0	0.0003	0	0	0.0002	0.0011	0.0046	0.0006339	98	154602	rs200805176	0.0004	0.0004	0.0003	0.0006	0.0054	0.0004	0.0004	0.0050	0.0048	2.991e-05	0.0004	0	2.52e-05	0	0.0014	0.0001	0.0002	0.0054	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0001	0.0019	0.0016	2.406e-05	0	0.0001	0	0	0	0	0.0002	0	0.0031	0.206	0.19927	T	0.026	0.55759	D	0.75	0.43260	P	0.129	0.32841	B	0.003992	0.34245	N	0.345671	0.999978	0.18612	N	.	.	.	1.7	0.26885	T	-3.14	0.64019	D	0.748	0.74735	-1.0956	0.04667	T	0.051	0.21728	T	10	0.0070364773	0.00160	T	0.079747	0.73305	D	0.154	0.40340	.	.	0.531245695338	0.52774	0.8298226513851884	0.82940	0.268375754583	0.29358	0.393307089806	0.24135	T	0.185223	0.53812	T	-0.422538	0.01648	T	-0.378632	0.35882	T	0.0607050603765	0.07279	T	0.750125	0.37153	T	0.27674827	0.50735	0.30319402	0.56351	0.34527615	0.56697	0.31515864	0.57503	-7.66	0.58729	D	.	.	0.262	0.51738	B	.;.;.	.;.;.	1.798782	0.22867	15.79	0.31134737426357267	0.01739	0.86384	0.45653	D	AEFBI	0.735667	0.68141	D	-0.117023731123837	0.36651	2.121414	-0.136588157486423	0.33928	1.94607	0.155259806287711	0.17506	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.03	5.03	0.67015	4.189000	0.58156	4.412000	0.43285	-0.055000	0.16736	0.925000	0.32113	0.950000	0.28999	0.022000	0.11911	1.0:0.0:0.0:0.0	14.712	0.68856	654	0.62520	.;.;.	.	.	.	.	.	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	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.007576	0.1	4076.14	34	chr5	90776525	.	A	C	4076.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.485;DP=625;ExcessHet=0.2348;FS=4.215;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=2.29;SOR=0.718	GT:AD:DP:GQ:PL	0/1:78,80:158:99:1780,0,1887	8	0	2	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	451	281	404	386	0	1176	0.67664	.	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.546324	0.454545	0.528533	0.593567	0.550000	0.560345	0.573171	0.606061	0.5	13600.0	131	chr5	138556481	.	G	A	13600.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.729;DP=1022;ExcessHet=8.8523;FS=1.107;InbreedingCoeff=-0.6;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.205;SOR=0.789	GT:AD:DP:GQ:PL	0/1:52,53:105:99:1327,0,1131	1	1	8	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	1/1:0,286:286:99:9162,859,0	0	6	4	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	0/1:38,24:62:99:.:.:568,0,1035:.	1	2	7	0
chr6	32041146	32041146	C	T	UTR3	CYP21A2	NM_000500:c.*12C>T;NM_001128590:c.*12C>T;NM_001368143:c.*12C>T;NM_001368144:c.*12C>T	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	16	1383	122	1	0	124	0.0429066	.	.	YES	576925	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0063	0.00978435	0.0125	0.0101	0.0103	0.0017	0.0021	0.0118	0.0190	0.0256	0.0092884	1436	154602	rs150697472	0.0099	0.0101	0.0093	0.0104	0.0654	0.0097	0.0097	0.0591	0.0567	0.0077	0.0099	0.0216	0.0010	0.0010	0.0654	0.0090	0.0130	0.0223	0.0090	0.0091	0.0089	0.0092	0.0160	0.0086	0.0085	0.0132	0.0121	0.0084	0	0.0124	0.0219	0.0023	0.0007	0.0782	0.0088	0.0229	0.0160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1417.14	41	chr6	32041146	.	C	T	1417.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.56;DP=425;ExcessHet=0.2348;FS=1.391;InbreedingCoeff=-0.1112;MLEAC=2;MLEAF=0.1;MQ=56.8;MQRankSum=-0.614;QD=10.66;ReadPosRankSum=0.568;SOR=0.539	GT:AD:DP:GQ:PL	0/1:48,24:72:99:542,0,1140	8	0	2	0
chr6	32042010	32042010	A	G	splicing	TNXB	NM_001365276:exon42:c.12469+2T>C;NM_019105:exon42:c.12463+2T>C;NM_032470:exon11:c.1756+2T>C	.	.	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	649	852	18	3	0	24	0.0138889	0.9639	0.64	.	443945	not_provided|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency|TNXB-related_disorder	MedGen:C3661900|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1082	0	0.5	0	.	0.0645	.	0.1404	0.0011142	29	26028	rs545719209	0.0111	0.0085	0.0100	0.0121	0.0515	0.0108	0.0107	0.0437	0.0407	0.0055	0.0098	0.0238	0.0005	0.0011	0.0515	0.0102	0.0132	0.0240	0.0106	0.0069	0.0103	0.0111	0.0192	0.0100	0.0097	0.0143	0.0126	0.0048	0	0.0147	0.0314	0.0027	0.0012	0.0802	0.0123	0.0272	0.0192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.111952	0.34447	T	0.085336	0.75934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.922929	0.57282	23.8	0.99383401819633854	0.61979	0.98625	0.84843	D	AEFGI	.	.	.	0.968673653607969	0.94697	12.96467	0.764717257158417	0.87252	9.158453	0.999974908037553	0.50053	0.164513	0.03853	0	0.195528	0.04277	0	0.083675	0.02720	0	0.062806	0.01542	0	0.857618	0.52466	4.66	4.66	0.57857	4.342000	0.59122	.	.	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.312000	0.24784	1.0:0.0:0.0:0.0	13.272	0.59600	923	0.18507	.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	92.3	6	chr6	32042010	.	A	G	92.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.83;DP=49;ExcessHet=0;FS=0;InbreedingCoeff=-0.1085;MLEAC=1;MLEAF=0.05;MQ=26.1;MQRankSum=-0.431;QD=15.38;ReadPosRankSum=0.842;SOR=0.368	GT:AD:DP:GQ:PL	0/1:2,4:6:45:103,0,45	9	0	1	0
chr6	32085951	32085951	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon7:c.G2947A:p.A983T,TNXB:NM_019105:exon7:c.G2947A:p.A983T	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	1176763	not_provided|not_specified|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.142	0.00679864150355	.	0.00119808	0.0003	0.0012	0.0003	0.0002	0	0.0002	0	6.151e-05	0.0002393	37	154602	rs138850364	0.0001	0.0001	0.0001	0.0001	0.0015	0.0001	0.0001	0.0011	0.0010	0.0015	0.0004	0	0.0001	0	0.0013	5.942e-05	0.0005	0.0001	0.0004	0.0004	0.0003	0.0004	0.0010	0.0003	0.0003	0.0007	0.0006	0.0010	0	0.0005	0	0.0002	0	0	0.0001	0	0.0002	0.095	0.31235	T	0.002	0.79402	D	.	.	.	.	.	.	0.067244	0.21754	N	0.331049	0.997793	0.22503	N	.	.	.	3.53	0.04852	T	-2.05	0.47008	N	0.439	0.47765	-0.9777	0.35526	T	0.013	0.05033	T	10	0.029506356	0.01077	T	0.006799	0.17982	T	0.142	0.37995	.	.	0.326837869879	0.32287	.	.	.	.	0.46544033289	0.34055	T	0.058	0.30584	T	-0.409222	0.02012	T	-0.395974	0.33852	T	0.0279979757428674	0.01689	T	0.831417	0.50212	T	0.076745726	0.17375	0.095823854	0.22741	0.076745726	0.17375	0.095823854	0.22741	-7.706	0.59049	D	0.1295482642614728	0.13542	0.211	0.44397	B	.;.;.;.	.;.;.;.	4.968399	0.82200	27.7	0.99917281398028612	0.98518	0.63096	0.31983	D	AEFDBHCI	0.290187	0.40164	N	0.190692091223209	0.50753	3.262324	0.146154372193557	0.46938	2.931794	0.999999998291978	0.74766	0.653496	0.48692	0	0.480063	0.06835	0	0.596874	0.31795	0	0.542086	0.14980	0	.	.	3.89	2.99	0.33673	0.944000	0.28641	.	.	0.549000	0.26987	0.550000	0.27346	1.000000	0.68203	0.977000	0.56843	0.2336:0.7664:0.0:0.0	8.409	0.31795	911	0.21964	Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002179	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1463.43	33	chr6	32085951	.	C	T	1463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.359;DP=415;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-1.609;SOR=0.674	GT:AD:DP:GQ:PL	0/1:40,58:98:99:1475,0,875	9	0	1	0
chr6	32097234	32097234	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon3:c.G619A:p.G207S,TNXB:NM_019105:exon3:c.G619A:p.G207S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1183818	not_provided|not_specified|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.348	0.0287910162191	0.0002	0.000998403	0.0003	0.0021	0.0006	0	0	0.0002	0	8.255e-05	0.000194	30	154602	rs139154852	0.0001	0.0001	9.989e-05	0.0001	0.0015	0.0001	9.475e-05	0.0012	0.0011	0.0015	0.0004	0	0	0	0.0012	4.964e-05	0.0005	8.245e-05	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0002	0.0007	0.0006	0.0009	0	0.0005	0	0	0	0	7.35e-05	0	0.0002	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	0.000256	0.46924	D	0.000000	0.931363	0.36987	D	.	.	.	1.81	0.25182	T	-3.72	0.83157	D	0.794	0.79022	-0.8296	0.53327	T	0.126	0.43153	T	10	0.04814756	0.04227	T	0.028791	0.51409	D	0.348	0.66956	.	.	0.290620346082	0.28682	.	.	.	.	0.787975132465	0.80134	T	0.608673	0.87565	D	-0.325724	0.06440	T	-0.276034	0.47209	T	0.150018151207238	0.17105	T	0.959904	0.95103	D	0.70878536	0.78541	0.6916491	0.81853	0.70878536	0.78542	0.6916491	0.81854	-9.442	0.70498	D	0.12519815763166522	0.12409	0.251	0.48572	B	.;.;.;.;.	.;.;.;.;.	4.910603	0.80791	27.4	0.99846236074516526	0.92576	0.90955	0.52579	D	AEFDBCI	0.544673	0.55950	D	0.617521472281769	0.74282	6.106342	0.491594154635276	0.67432	5.083223	0.999999382332169	0.74766	0.62174	0.39705	0	0.541168	0.11318	0	0.491614	0.08109	1	0.542086	0.14980	0	.	.	4.22	3.33	0.37245	5.619000	0.67408	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.704000	0.34264	0.173:0.827:0.0:0.0	12.156	0.53384	906	0.23090	EGF-like domain, extracellular|EGF-like domain;.;EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like 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	0.002179	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2315.43	34	chr6	32097234	.	C	T	2315.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=542;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=2.28;SOR=0.793	GT:AD:DP:GQ:PL	0/1:70,90:160:99:2327,0,1573	9	0	1	0
chr6	42963890	42963893	TTTA	-	UTR3	PEX6	NM_001316313:c.*445_*442delTAAA;NM_000287:c.*445_*442delTAAA	.	.	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	639	398	139	346	0	831	0.510756	.	.	.	300174	not_provided|PEX6_POLYMORPHISM|not_specified|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.647364	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs144286892	0.5727	0.5907	0.5681	0.5768	0.9184	0.5710	0.5703	0.9056	0.9003	0.9184	0.5473	0.5051	0.3599	0.5005	0.6168	0.5761	0.5928	0.6450	0.6587	0.6629	0.6658	0.6513	0.9162	0.6553	0.6538	0.9083	0.9051	0.9162	0.6826	0.5830	0.5087	0.3234	0.5061	0.5810	0.5796	0.6463	0.6385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	1861.73	5	chr6	42963889	.	GTTTA	G	1861.73	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.674;DP=69;ExcessHet=0;FS=0;InbreedingCoeff=0.6781;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=31.18;ReadPosRankSum=-1.383;SOR=2.049	GT:AD:DP:GQ:PL	0/1:2,2:4:78:78,0,78	3	6	1	0
chr6	50844303	50844304	AC	-	UTR3	TFAP2B	NM_003221:c.*911_*912delAC	.	.	Char syndrome, Autosomal dominant;Patent ductus arteriosus 2, Autosomal dominant	1436	77	2	7	0	16	0.0941176	.	.	.	308011	Char_syndrome|not_provided	MONDO:MONDO:0008209,MedGen:C1868570,OMIM:169100,Orphanet:46627|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.936701	.	.	.	.	.	.	.	.	0.000461	12	26028	rs1491025948	0.3333	0.0152	0.3824	0.3108	.	0.2475	0.2178	.	.	.	.	.	.	0.3333	.	0	0.5000	.	0.3073	0.3071	0.3064	0.3084	0.4915	0.3050	0.3040	0.4754	0.4688	0.1656	0.4845	0.3065	0.3927	0.4915	0.3189	0.3345	0.3681	0.2984	0.3394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	71.14	.	chr6	50844302	.	AAC	A	71.14	.	AC=2;AF=0.5;AN=4;DP=5;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.75;MQ=60;QD=32.06;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:77,6,0	1	1	0	8
chr6	75749422	75749422	C	G	UTR5	MYO6	NM_001300899:c.-68126C>G;NM_001368137:c.-68126C>G;NM_001368866:c.-68126C>G;NM_001368865:c.-68126C>G;NM_001368136:c.-68126C>G;NM_001368140:c.-68126C>G;NM_001368139:c.-68126C>G;NM_004999:c.-68126C>G;NM_001368138:c.-68126C>G	.	.	Deafness, autosomal dominant 22, Autosomal dominant;Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, Autosomal dominant;Deafness, autosomal recessive 37, Autosomal recessive	1145	375	1	1	0	3	0.00398406	0.0004	0.014	.	308739	not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_22|Autosomal_recessive_nonsyndromic_hearing_loss_37	MedGen:C3661900|MONDO:MONDO:0011660,MedGen:C2931767,OMIM:606346,Orphanet:228012|MONDO:MONDO:0011912,MedGen:C1843028,OMIM:607821,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00898562	.	.	.	.	.	.	.	.	0.0215921	562	26028	rs149130280	0.0133	0.0012	0.0231	0.0110	0.0156	0.0069	0.0052	0.0082	0.0061	0	0	0	0	0	0	0.0156	0	0	0.0182	0.0182	0.0192	0.0171	0.0287	0.0176	0.0174	0.0276	0.0272	0.0056	0.0319	0.0179	0.0392	0.0002	0.0055	0.0646	0.0287	0.0189	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	68.64	8	chr6	75749422	.	C	G	68.64	.	AC=2;AF=0.2;AN=10;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=22.88;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:81,9,0	4	1	0	5
chr6	131847856	131847856	-	GT	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	.	.	.	.	.	.	.	.	.	306046	Arterial_calcification,_generalized,_of_infancy,_1|not_provided|Hypophosphatemic_Rickets,_Recessive|not_specified	MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MedGen:C3661900|MedGen:CN239452|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0099124	258	26028	rs879243445	0.1164	0.1420	0.1109	0.1218	0.2260	0.1159	0.1156	0.2219	0.2202	0.0541	0.1701	0.1677	0.2260	0.1618	0.1174	0.1025	0.1337	0.1540	0.2005	0.2032	0.1967	0.2045	0.3235	0.1985	0.1977	0.3101	0.3047	0.0963	0.1496	0.2623	0.2420	0.3235	0.2116	0.2176	0.2296	0.2147	0.2345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1937.08	19	chr6	131847856	.	G	GGT	1937.08	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.067;DP=332;ExcessHet=15.1594;FS=4.66;InbreedingCoeff=-0.7711;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.176;SOR=1.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,5:18:7:.:.:62,0,263:.	6	1	3	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	1/1:0,124:124:99:3695,372,0	6	1	3	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	1/1:0,7:7:21:281,21,0	3	1	6	0
chr6	152444592	152444592	A	-	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	10	181	22	1	12	36	0.0621762	.	.	.	299490	Emery-Dreifuss_muscular_dystrophy|not_provided|Cerebellar_ataxia|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1541	.	0.2126	0.1732	0.2234	0.1883	0.1712	0.2367	0.2051	0.1702	0.0038036	99	26028	rs111322292	0.0628	0.0977	0.0627	0.0629	0.0670	0.0624	0.0622	0.0665	0.0663	0.0432	0.0570	0.0605	0.0220	0.0519	0.0324	0.0670	0.0577	0.0443	0.0325	0.0325	0.0346	0.0304	0.0449	0.0318	0.0315	0.0436	0.0430	0.0220	0.0067	0.0268	0.0310	0.0026	0.0209	0.0071	0.0449	0.0350	0.0261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	553.11	44	chr6	152444591	.	GA	G	553.11	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.348;DP=372;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1114;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.307;SOR=0.737	GT:AD:DP:GQ:PL	0/1:17,3:20:25:25,0,415	8	0	2	0
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A,SOD2:NM_001322814:exon2:c.T47C:p.V16A,SOD2:NM_001322815:exon2:c.T47C:p.V16A,SOD2:NM_001322816:exon2:c.T47C:p.V16A	.	426	313	516	267	0	1050	0.626492	.	.	.	29790	SOD2_POLYMORPHISM|Microvascular_complications_of_diabetes,_susceptibility_to,_6	.|MONDO:MONDO:0012970,MedGen:C2675128,OMIM:612634	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.048	.	0.4731	0.410743	0.5024	0.4521	0.6492	0.1596	0.5033	0.5162	0.4902	0.5375	0.0001153	3	26028	rs4880	0.4921	0.4920	0.4930	0.4912	0.6131	0.4912	0.4908	0.6070	0.6045	0.4286	0.6131	0.5060	0.1309	0.4807	0.4419	0.5013	0.4763	0.5191	0.4704	0.4704	0.4750	0.4656	0.5368	0.4675	0.4663	0.5271	0.5231	0.4245	0.4901	0.5368	0.5193	0.1435	0.4668	0.4658	0.5033	0.4693	0.5118	0.926	0.09806	T	0.979	0.20680	T	0.024	0.19075	B	0.014	0.16862	B	0.003125	0.35389	N	0.321860	1	0.28987	P	.	.	.	2.8	0.17923	T	0.35	0.06138	N	0.034	0.02964	-0.9308	0.44021	T	0.008	0.02679	T	8	3.9671322e-05	0.00008	T	.	.	.	0.048	0.13305	.	.	.	.	0.24148455001478597	0.24062	0.559626915364	0.52497	0.639073014259	0.58432	T	0.006216	0.10632	T	-0.680986	0.00047	T	-0.607145	0.12218	T	0.00926767202390716	0.00118	T	0.00962761	0.00101	T	0.019719824	0.00509	0.04335931	0.05377	0.019719824	0.00508	0.04335931	0.05376	-2.567	0.10127	T	.	.	0.065	0.07412	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.792224	0.11628	8.214	0.81617120455707348	0.13775	0.13403	0.17836	N	ALL	0.032084	0.03557	N	-0.854084909372284	0.11949	0.5796162	-0.812104859326894	0.14202	0.7408959	0.999999999993235	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.08	0.34576	2.202000	0.42377	4.081000	0.41738	-0.176000	0.10722	0.649000	0.28163	0.999000	0.35428	0.111000	0.18785	0.1374:0.121:0.7416:0.0	9.062	0.35603	725	0.54935	.;.;.;.;.;.;.;.	RP3-393E18.2|MRPL18|RP3-393E18.2|WTAP|MRPL18|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|MRPL18|PNLDC1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2|ACAT2|MRPL18|MRPL18|RP3-393E18.2|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|MRPL18|SOD2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|ACAT2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|RP3-393E18.2|HNRNPH1P1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Brain_Hippocampus|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood	SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|MRPL18	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis	rs4880	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.440524	0.429293	0.388587	0.514620	0.650000	0.439655	0.429448	0.477273	0.6	11125.0	60	chr6	159692840	.	A	G	11125.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=2.36;DP=635;ExcessHet=2.8549;FS=0.649;InbreedingCoeff=-0.25;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=0.536;SOR=0.811	GT:AD:DP:GQ:PL	1/1:0,65:65:99:2294,195,0	1	3	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	1|1:2,95:97:99:1|1:170561949_GCAA_G:3423,260,0:170561949	1	2	7	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|1:0,80:80:99:1|1:21867834_G_GT:3559,241,0:21867834	1	6	3	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	1/1:2,17:19:7:392,7,0	1	4	4	1
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	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	0/1:27,7:34:77:.:.:77,0,593:.	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	1/1:0,44:47:99:1991,134,0	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	0/1:28,24:52:99:518,0,624	2	1	7	0
chr7	117602811	117602811	C	G	intronic	CFTR	.	.	.	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	1	1478	43	0	0	43	0.0143381	.	.	.	44508	not_specified|not_provided|CFTR-related_disorder|Cystic_fibrosis|Hereditary_pancreatitis	MedGen:CN169374|MedGen:C3661900|MedGen:C5924204|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0023	0.00139776	0.0026	0.0002	0.0020	0	0	0.0038	0.0077	0.0015	0.0022833	353	154602	rs139379077	0.0019	0.0019	0.0017	0.0021	0.0331	0.0018	0.0018	0.0293	0.0278	0.0009	0.0030	0.0217	2.52e-05	0	0.0331	0.0013	0.0044	0.0016	0.0022	0.0022	0.0020	0.0024	0.0048	0.0020	0.0019	0.0040	0.0036	0.0002	0	0.0048	0.0248	0	0	0.0238	0.0020	0.0071	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1504.43	34	chr7	117602811	.	C	G	1504.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.533;DP=418;ExcessHet=0;FS=2.488;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.042;SOR=0.473	GT:AD:DP:GQ:PL	0/1:48,63:111:99:1516,0,1051	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	0/1:76,58:134:99:1390,0,1855	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	0/1:63,27:90:99:205,0,1093	2	0	8	0
chr7	140017700	140017700	G	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon11:c.G1211A:p.R404Q,TBXAS1:NM_001061:exon12:c.G1394A:p.R465Q,TBXAS1:NM_001314028:exon12:c.G1337A:p.R446Q,TBXAS1:NM_001166253:exon13:c.G1532A:p.R511Q,TBXAS1:NM_001166254:exon14:c.G1193A:p.R398Q,TBXAS1:NM_001130966:exon16:c.G1394A:p.R465Q	Ghosal hematodiaphyseal syndrome, Autosomal recessive	0	1489	32	1	0	34	0.0112882	.	.	.	587929	not_provided|not_specified|TBXAS1-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	0.00779722285529	0.0011	0.00139776	0.0020	0.0001	0.0020	0	0.0018	0.0025	0.0045	0.0021	0.001824	282	154602	rs41311778	0.0014	0.0014	0.0013	0.0014	0.0090	0.0013	0.0013	0.0070	0.0063	0.0002	0.0019	0.0050	7.558e-05	0.0021	0.0090	0.0012	0.0023	0.0019	0.0013	0.0014	0.0013	0.0014	0.0022	0.0012	0.0011	0.0016	0.0014	7.216e-05	0	0.0022	0.0061	0	0.0014	0.0102	0.0017	0.0024	0.0021	0.21	0.19639	T	0.637	0.07419	T	0.031	0.20130	B	0.015	0.17295	B	0.065881	0.21850	N	0.483473	1	0.08975	N	.	.	.	-0.24	0.66834	T	0.25	0.04456	N	0.128	0.17691	-0.9798	0.35048	T	0.077	0.30676	T	10	0.007707268	0.00175	T	0.007797	0.20694	T	0.040	0.10527	.	.	0.273503213844	0.26977	0.6146852025524998	0.61400	0.137519854837	0.15505	0.248660236597	0.03628	T	0.006446	0.05881	T	-0.467726	0.00878	T	-0.457862	0.26832	T	0.0109043994219762	0.00156	T	0.689031	0.29821	T	.	.	.	.	.	.	.	.	-4.345	0.28802	T	.	.	0.078	0.06803	B	.;.;.;.;.	.;.;.;.;.	0.838685	0.12104	8.655	0.96610486747485569	0.30441	0.02841	0.07592	N	AEFDBCI	0.125115	0.24148	N	-1.4376983823085	0.02315	0.1020869	-1.48100394523166	0.02500	0.1150909	0.999999994997579	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.69	-5.64	0.02269	0.670000	0.24838	-0.528000	0.08651	-0.113000	0.14837	0.006000	0.17386	0.000000	0.08366	0.253000	0.23340	0.6056:0.1043:0.1751:0.115	4.773	0.12537	934	0.15400	.;.;.;.;.	.	.	.	.	.	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	0.004536	0.005051	0.002717	0.008772	0.050000	0.008621	0.003049	0.000000	0.15	3098.43	40	chr7	140017700	.	G	A	3098.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.04;DP=436;ExcessHet=0;FS=0.719;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=20.79;ReadPosRankSum=0.653;SOR=0.835	GT:AD:DP:GQ:PL	1/1:1,68:69:99:2011,197,0	8	1	1	0
chr7	142749524	142749524	C	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon1:c.C40G:p.L14V	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1184	338	0	0	338	0.124908	0	0.172	.	933718	Hereditary_pancreatitis|not_provided	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.221	.	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs747228052	0.0163	0.0916	0.0159	0.0166	0.0302	0.0161	0.0160	0.0284	0.0277	0.0302	0.0266	0.0367	0.0149	0.0869	0.0146	0.0136	0.0244	0.0024	0.3494	0.3861	0.3542	0.3444	0.4130	0.3464	0.3452	0.4068	0.4042	0.4130	0.3354	0.3561	0.3511	0.1063	0.3526	0.2554	0.3440	0.3432	0.1690	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.089679	0.20415	N	0.498441	0.999154	0.21565	N	-0.055	0.04927	N	-3.18	0.93111	D	1.4	0.00835	N	0.1	0.09631	-0.6563	0.62439	T	0.520	0.82091	D	10	0.09526378	0.17002	T	0.081841	0.73770	D	0.221	0.51721	.	.	0.74833783201	0.74606	0.6303402522407332	0.62968	0.16419798022	0.18528	0.351473480463	0.18139	T	0.18894	0.54300	T	-0.0866624	0.38626	T	-0.362261	0.37790	T	0.0625269785523415	0.07561	T	.	.	.	0.03509291	0.04065	0.09660669	0.22962	0.03509291	0.04065	0.09660669	0.22961	-3.639	0.18422	T	.	.	0.061	0.01042	B	.;.;.	.;.;.	0.943023	0.13190	9.689	0.10035292204727132	0.00117	0.01979	0.05984	N	AEFDBI	0.044097	0.07052	N	-0.973998565507978	0.09162	0.4324695	-0.844955323986839	0.13408	0.6954354	0.00552028722970171	0.10963	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.32	2.43	0.28797	2.003000	0.40464	.	.	-0.319000	0.05888	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.1794:0.8206:0.0	11.878	0.51835	776	0.48302	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	610.14	34	chr7	142749524	.	C	G	610.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=5.96;DP=1168;ExcessHet=0.2348;FS=16.89;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.39;MQRankSum=-15.65;QD=1.13;ReadPosRankSum=-0.894;SOR=2.557	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,19:273:33:0|1:142749506_A_G:33,0,10574:142749506	8	0	2	0
chr7	142750561	142750561	C	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.C47T:p.A16V	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	788	734	0	0	734	0.317749	.	.	YES	46925	not_provided|Recurrent_pancreatitis|Hereditary_pancreatitis	MedGen:C3661900|Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.524	.	.	.	0.0160	0.0479	0.0047	0.0021	0.0128	0.0164	0.0210	0.0113	0.0135833	2100	154602	rs202003805	0.2021	0.3260	0.1994	0.2049	0.3871	0.2013	0.2010	0.3798	0.3768	0.3871	0.3293	0.2961	0.1035	0.3682	0.1866	0.1904	0.2197	0.1188	0.3862	0.4088	0.3910	0.3812	0.4582	0.3832	0.3820	0.4521	0.4495	0.4582	0.3653	0.3885	0.3815	0.1497	0.3882	0.3266	0.3733	0.3802	0.2128	0.566	0.06502	T	0.351	0.19721	T	0.0	0.02946	B	0.002	0.06944	B	0.018559	0.27457	N	0.446479	0.985655	0.24690	N	0.625	0.15840	N	-3.17	0.93054	D	-0.01	0.07155	N	0.072	0.08366	-0.5774	0.65720	T	0.542	0.83122	D	10	0.0054525733	0.00120	T	.	.	.	0.524	0.79825	.	.	.	.	0.5690087331218414	0.56828	0.162344706958	0.18315	0.232086211443	0.02126	T	0.208591	0.56856	T	0.119743	0.66346	D	-0.0657736	0.65926	T	0.0260900631546974	0.01419	T	.	.	.	0.016501123	0.00202	0.035258744	0.02744	0.015689086	0.00152	0.033967946	0.02380	-4.735	0.33824	T	.	.	0.128	0.27373	B	.;.;.	.;.;.	0.257558	0.06365	2.827	0.30547631428140182	0.01676	0.01640	0.05278	N	AEFDBI	0.139100	0.26059	N	-1.28146295350348	0.03898	0.1749983	-1.30565312385982	0.04356	0.2053128	0.136983366606344	0.17200	0.549168	0.22868	0	0.627178	0.54094	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	3.49	0.989	0.18920	0.485000	0.22033	.	.	-1.601000	0.00893	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2125:0.0:0.7875	7.043	0.24210	776	0.48302	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	0.009060	0.025974	0.000000	0.004274	0.062500	0.000000	0.031915	0.008000	0.4	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|1:112,66:178:99:0|1:142750561_C_T:2386,0,4299:142750561	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|1:107,31:138:99:0|1:142750660_G_T:980,0,4400:142750660	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|1:104,26:130:99:0|1:142750660_G_T:779,0,4289:142750660	2	0	8	0
chr7	142750715	142750715	G	A	splicing	PRSS1	NM_002769:exon2:c.200+1G>A	.	.	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1452	70	0	0	70	0.0235373	1.0000	0.848	.	389795	Hereditary_pancreatitis|not_specified	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0168	0.0324	0.0042	0.0020	0.0238	0.0143	0.0236	0.0308	4.53e-05	7	154602	rs143909348	0.0011	0.0454	0.0008	0.0014	0.0019	0.0010	0.0010	0.0015	0.0014	0.0019	0.0005	0.0008	0.0006	0.0019	0.0014	0.0011	0.0015	2.527e-05	0.0248	0.1744	0.0235	0.0261	0.0474	0.0239	0.0236	0.0450	0.0440	0.0474	0.0224	0.0233	0.0141	0.0027	0.0353	0.0055	0.0170	0.0232	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203112	0.74183	D	0.05398	0.73846	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.670096	0.92930	33	0.99152217748706628	0.53848	0.96810	0.71061	D	AEFDBI	.	.	.	0.873327191576921	0.90394	10.38377	0.628514251622925	0.77020	6.599509	0.999995312873056	0.74766	0.087844	0.02253	0	0.085267	0.02369	0	0.106748	0.03127	0	0.075334	0.01956	0	0.824128	0.49265	3.49	3.49	0.39065	9.545000	0.97193	.	.	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	14.397	0.66584	776	0.48302	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	405.14	34	chr7	142750715	.	G	A	405.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.35;DP=582;ExcessHet=0.2348;FS=2.83;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.48;MQRankSum=-9.082;QD=2.55;ReadPosRankSum=-3.322;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,8:84:99:0|1:142750660_G_T:107,0,3127:142750660	8	0	2	0
chr7	142752476	142752476	G	C	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon4:c.G500C:p.S167T	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	495	1027	0	0	1027	0.509172	.	.	.	1044764	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0561978714716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232891794	0.2545	0.3268	0.2490	0.2598	0.3691	0.2536	0.2533	0.3636	0.3614	0.2301	0.3691	0.3339	0.1146	0.3574	0.2639	0.2514	0.2503	0.2264	0.4061	0.4174	0.4095	0.4025	0.4695	0.4032	0.4020	0.4636	0.4612	0.4695	0.3848	0.4099	0.4028	0.1747	0.4131	0.3359	0.3953	0.3970	0.2476	0.157	0.23997	T	0.098	0.39040	T	0.0	0.07471	B	0.01	0.14941	B	0.083030	0.20775	N	0.574518	1	0.08975	N	1.445	0.36358	L	-3.32	0.93882	D	-2.14	0.48523	N	0.225	0.25622	-0.1577	0.78727	T	0.698	0.89598	D	10	0.23140222	0.40113	T	0.056198	0.66515	D	0.289	0.60808	0.642	0.77903	0.527610103971	0.52408	0.7123115361635766	0.71173	0.155586269279	0.17559	0.440457701683	0.30639	T	0.578285	0.86150	D	-0.00289087	0.51255	T	-0.241929	0.50610	T	0.0861879674086316	0.10760	T	.	.	.	0.1717769	0.37831	0.16736849	0.38616	0.1717769	0.37831	0.16736849	0.38615	-3.967	0.23308	T	.	.	0.124	0.29172	B	.;.;.;.	.;.;.;.	-0.119171	0.03530	0.672	0.49745973133581234	0.04263	0.00742	0.03097	N	AEFBI	0.279347	0.39342	N	-1.33556641628984	0.03277	0.1461073	-1.43646429030785	0.02895	0.1340265	4.17954976400154E-4	0.06899	0.446893	0.09132	0	0.457222	0.06608	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	-1.85	0.07363	0.606000	0.23891	.	.	-1.515000	0.01011	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6816:0.3184:0.0	15.926	0.79405	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	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	0/1:150,96:246:99:3288,0,3869	2	0	8	0
chr8	10610127	10610127	-	CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.E1324_G2392delinsGTKVIEGLQEERVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	2	62	35	14	113	176	0.336898	.	.	.	490785	not_specified|Occult_macular_dystrophy|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019748	514	26028	rs369606728	0.3003	0.2931	0.3009	0.2996	0.3367	0.2994	0.2990	0.3356	0.3352	0.0668	0.1268	0.2984	0.0016	0.2804	0.2689	0.3367	0.2875	0.1937	0.2690	0.2723	0.2800	0.2574	0.3823	0.2665	0.2655	0.3781	0.3764	0.1017	0.3651	0.1960	0.3263	0.0039	0.2681	0.3259	0.3823	0.2752	0.1849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	87613.7	417	chr8	10610127	.	T	TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	87613.7	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.026;DP=3602;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=8;MLEAF=0.4;MQ=59.68;MQRankSum=-0.183;QD=29.11;ReadPosRankSum=-3.299;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,288:290:99:.:.:15348,1019,0:.	4	2	4	0
chr8	11757066	11757066	A	G	exonic	GATA4	.	nonsynonymous SNV	GATA4:NM_001374273:exon5:c.A511G:p.S171G,GATA4:NM_001374274:exon5:c.A385G:p.S129G,GATA4:NM_001308093:exon6:c.A1132G:p.S378G,GATA4:NM_001308094:exon6:c.A511G:p.S171G,GATA4:NM_002052:exon6:c.A1129G:p.S377G	Atrial septal defect 2, Autosomal dominant;Atrioventricular septal defect 4, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Ventricular septal defect 1, Autosomal dominant	0	1197	296	29	0	354	0.128821	.	.	.	53501	not_specified|Atrioventricular_septal_defect_4|Cardiovascular_phenotype|Neonatal_insulin-dependent_diabetes_mellitus|not_provided	MedGen:CN169374|MONDO:MONDO:0013747,MedGen:C3280781,OMIM:614430|MedGen:CN230736|Human_Phenotype_Ontology:HP:0000857,MedGen:C3278636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.291	.	0.1006	0.0429313	0.0962	0.0204	0.0407	0.0006	0.1405	0.1354	0.1247	0.0556	0.0944554	14603	154602	rs3729856	0.1117	0.1118	0.1118	0.1117	0.1376	0.1113	0.1111	0.1296	0.1265	0.0198	0.0459	0.1768	0.0002	0.1454	0.1376	0.1224	0.1075	0.0564	0.0885	0.0886	0.0902	0.0868	0.1342	0.0873	0.0868	0.1319	0.1310	0.0210	0.0956	0.0528	0.1842	0.0013	0.1405	0.1054	0.1342	0.0874	0.0487	0.417	0.09927	T	0.466	0.13912	T	0.0	0.02946	B	0.0	0.01387	B	0.051149	0.23008	N	0.470389	0.40175	0.32515	P	-0.205	0.04094	N	-5.31	0.98979	D	-0.39	0.13611	N	0.081	0.10198	-0.3951	0.72181	T	0.047	0.20037	T	9	0.0017141104	0.00021	T	.	.	.	0.291	0.61040	.	.	.	.	0.3989938689426625	0.39814	0.159432105992	0.17994	0.260318040848	0.04929	T	0.240558	0.71923	T	-0.414397	0.01859	T	-0.225751	0.52182	T	0.00155459552687909	0.00016	T	.	.	.	0.044084683	0.06984	0.037932515	0.03553	0.048713792	0.08535	0.042145498	0.04952	-3.894	0.22212	T	.	.	0.064	0.02765	B	.;.;.;.;.	.;.;.;.;.	0.088956	0.04932	1.505	0.97243726085723836	0.33010	0.52098	0.29051	D	AEFDBCI	0.397443	0.47351	N	-0.696719188306403	0.16115	0.8181989	-0.578649529712743	0.20049	1.078522	0.999947408581666	0.47345	0.517182	0.21443	0	0.563428	0.19063	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.83	0.906	0.18444	0.363000	0.20037	.	.	-1.227000	0.01331	0.799000	0.29708	0.007000	0.19602	0.104000	0.18471	0.4155:0.1484:0.3085:0.1276	1.707	0.02711	940	0.13648	.;.;.;.;.	NEIL2|FDFT1|NEIL2|FDFT1|NEIL2|NEIL2|NEIL2|BLK|RP11-148O21.6|RP11-148O21.3|RP11-148O21.4|RP11-148O21.2|NEIL2|NEIL2|NEIL2|FDFT1|FDFT1|NEIL2|FDFT1|CTSB|NEIL2|NEIL2|NEIL2|SUB1P1|NEIL2|NEIL2|TDH|FAM167A	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Whole_Blood	FDFT1|FDFT1|NEIL2	Heart_Atrial_Appendage|Lung|Skin_Sun_Exposed_Lower_leg	rs3729856	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.133199	0.126263	0.138965	0.184211	0.100000	0.172414	0.134146	0.075758	0.1	1217.14	33	chr8	11757066	.	A	G	1217.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.074;DP=428;ExcessHet=0.2348;FS=2.154;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=1.36;SOR=0.497	GT:AD:DP:GQ:PL	0/1:36,34:70:99:725,0,975	8	0	2	0
chr8	132480670	132480670	-	CC	UTR5	KCNQ3	NM_004519:c.-139_-138insGG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	75	142	3	2	4	11	0.024055	.	.	.	307908	Benign_Neonatal_Epilepsy|Benign_neonatal_seizures|not_provided	MedGen:C0270851|MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008068	21	26028	rs879019805	0.1321	0.1013	0.1313	0.1330	0.1680	0.1314	0.1311	0.1626	0.1604	0.1407	0.1001	0.1405	0.0618	0.1292	0.1494	0.1314	0.1335	0.1680	0.1700	0.1748	0.1676	0.1725	0.2214	0.1680	0.1672	0.2089	0.2038	0.1562	0.0893	0.1840	0.2043	0.0990	0.1830	0.2250	0.1740	0.1618	0.2214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	1193.31	12	chr8	132480670	.	A	ACC	1193.31	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-0.548;DP=121;ExcessHet=0.5456;FS=3.209;InbreedingCoeff=0.0838;MLEAC=4;MLEAF=0.222;MQ=60;MQRankSum=0;QD=22.1;ReadPosRankSum=0.515;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,2:2:6:.:.:77,6,0:.	5	1	3	1
chr9	14842660	14842660	C	G	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon9:c.G1394C:p.G465A,FREM1:NM_144966:exon10:c.G1394C:p.G465A	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	5	1397	115	5	0	125	0.0428229	0.7675	0.582	.	215773	not_provided|Congenital_diaphragmatic_hernia|Oculotrichoanal_syndrome|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.337	.	0.0099	0.0199681	0.0186	0.0108	0.0443	0.0175	0.0009	0.0091	0.0196	0.0529	0.0169726	2624	154602	rs41298151	0.0128	0.0128	0.0118	0.0137	0.0475	0.0126	0.0126	0.0462	0.0457	0.0119	0.0401	0.0021	0.0165	0.0010	0.0290	0.0095	0.0150	0.0475	0.0120	0.0120	0.0113	0.0127	0.0435	0.0116	0.0114	0.0387	0.0368	0.0109	0.0505	0.0192	0.0026	0.0187	0.0007	0.0238	0.0095	0.0265	0.0435	0.017	0.51248	D	0.012	0.63918	D	0.998	0.73220	D	0.899	0.63802	P	0.000068	0.52346	N	0.202129	0.999671	0.48205	D	2.93	0.84523	M	0.33	0.58323	T	-4.11	0.74980	D	0.574	0.61511	-0.4955	0.68812	T	0.221	0.58396	T	10	0.007178992	0.00163	T	0.050605	0.64312	D	0.337	0.65913	.	.	.	.	0.7100395082716132	0.70945	.	.	0.507683515549	0.39899	T	0.410525	0.76524	T	-0.460076	0.00982	T	-0.397873	0.33631	T	0.0337219308297482	0.02591	T	0.888211	0.61727	D	0.35948035	0.57796	0.38014293	0.63053	0.4236663	0.62336	0.38014293	0.63053	-6.652	0.51448	T	.	.	0.147	0.33319	B	.;.	.;.	3.188836	0.43316	21.7	0.9953131129274787	0.69901	0.98761	0.86513	D	AEFBI	0.881154	0.80831	D	0.428934538463769	0.63020	4.52784	0.371036417734757	0.59785	4.159426	0.922265389065426	0.26702	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.63	3.76	0.42368	4.692000	0.61431	0.270000	0.16646	-0.214000	0.08267	1.000000	0.71638	0.012000	0.20211	0.974000	0.55675	0.0:0.7991:0.1302:0.0707	11.003	0.46831	835	0.38313	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027383	0.015152	0.025815	0.012195	0.000000	0.025862	0.030488	0.049242	0.1	1953.14	34	chr9	14842660	.	C	G	1953.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.033;DP=403;ExcessHet=0.2348;FS=0.838;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-0.144;SOR=0.579	GT:AD:DP:GQ:PL	0/1:34,33:67:99:1021,0,1022	8	0	2	0
chr9	34649445	34649445	A	G	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon8:c.A613G:p.N205D,GALT:NM_000155:exon10:c.A940G:p.N314D	Galactosemia, Autosomal recessive	0	1107	372	43	0	458	0.171407	.	.	YES	18652	GALT_POLYMORPHISM_(DUARTE,_D2)|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|Galactosemia|not_provided|GALT-related_disorder	.|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|Human_Phenotype_Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.382	.	0.0715	0.0728834	0.0920	0.0237	0.0572	0.0076	0.1131	0.0945	0.1289	0.1832	0.0897013	13868	154602	rs2070074	0.0956	0.0956	0.0927	0.0986	0.1801	0.0952	0.0950	0.1777	0.1767	0.0230	0.0656	0.1134	0.0067	0.1077	0.1130	0.0945	0.0966	0.1801	0.0748	0.0749	0.0737	0.0760	0.1732	0.0737	0.0732	0.1634	0.1595	0.0239	0.2264	0.0709	0.1086	0.0108	0.1101	0.0850	0.0952	0.0794	0.1732	1.0	0.00964	T	0.7	0.05727	T	0.0	0.02946	B	0.0	0.01387	B	0.023682	0.26395	N	0.363282	1	0.08975	N	-1.335	0.00675	N	-5.41	0.99076	D	0.69	0.02558	N	0.104	0.08786	-0.3448	0.73705	T	0.089	0.34216	T	10	0.0015891492	0.00018	T	.	.	.	0.382	0.69946	.	.	.	.	0.6107519334601241	0.61007	0.0529846633455	0.05838	0.494998365641	0.38132	T	0.531105	0.83775	D	-0.320467	0.06859	T	-0.0892856	0.64216	T	0.0011724377910854	0.00011	T	0.607439	0.22904	T	0.115712315	0.27301	0.081687234	0.18585	0.12176597	0.28627	0.085849494	0.19850	-2.233	0.04204	T	0.05973314454148825	0.01594	0.066	0.02313	B	.;.	.;.	2.301558	0.29454	18.13	0.77100449014328254	0.11737	0.33342	0.24805	N	AEFBI	0.235241	0.35787	N	-0.807690574731224	0.13113	0.6437672	-0.543084349204827	0.20989	1.133386	0.999962452380944	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	4.4	0.52402	1.735000	0.37800	6.631000	0.56152	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.3139:0.0:0.6861:0.0	7.829	0.28496	327	0.86637	.;Galactose-1-phosphate uridyl transferase, C-terminal	GALT|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|GALT|IL11RA|IL11RA|CNTFR-AS1|IL11RA|GALT|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|RP11-195F19.9|RPP25L|GALT|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|TRBV26OR9-2|RP11-384P7.7|RPP25L|IL11RA|RP11-195F19.9|GALT|IL11RA|GALT|IL11RA|IL11RA|RPP25L|IL11RA|RP11-195F19.9|CNTFR-AS1|GALT|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RPP25L|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	GALT|GALT|GALT|GALT|GALT|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|GALT|GALT|GALT|GALT|GALT|CCL27|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Uterus|Vagina|Whole_Blood	rs2070074	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.120342	0.055556	0.092391	0.134503	0.100000	0.129310	0.131098	0.200758	0.4	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	0/1:54,55:109:99:1280,0,1226	3	1	6	0
chr9	95249215	95249215	G	A	exonic	FANCC	.	nonsynonymous SNV	FANCC:NM_000136:exon2:c.C77T:p.S26F,FANCC:NM_001243743:exon2:c.C77T:p.S26F,FANCC:NM_001243744:exon2:c.C77T:p.S26F	Fanconi anemia, complementation group C, Autosomal recessive	0	1494	27	1	0	29	0.0096122	.	.	YES	138040	Fanconi_anemia_complementation_group_C|Fanconi_anemia_complementation_group_A|Fanconi_anemia|Hereditary_cancer-predisposing_syndrome|not_provided|Malignant_tumor_of_breast|FANCC-related_disorder|not_specified	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	0.0275263375515	0.0050	0.00259585	0.0047	0.0013	0.0031	0	0.0051	0.0068	0.0022	0.0017	0.0045924	710	154602	rs1800361	0.0059	0.0059	0.0060	0.0058	0.0231	0.0058	0.0057	0.0199	0.0187	0.0017	0.0037	0.0090	0	0.0051	0.0231	0.0065	0.0059	0.0019	0.0050	0.0050	0.0050	0.0051	0.0076	0.0047	0.0046	0.0066	0.0064	0.0010	0	0.0076	0.0072	0	0.0060	0.0204	0.0071	0.0100	0.0015	0.004	0.65419	D	0.01	0.92824	D	0.998	0.77913	D	0.948	0.72692	D	0.134198	0.18525	N	0.590317	0.845679	0.35138	D	1.95	0.52479	M	0.35	0.58029	T	-3.47	0.74742	D	0.261	0.35301	-0.4889	0.69047	T	0.207	0.56526	T	10	0.010334253	0.00230	T	0.027526	0.50329	D	0.230	0.53062	.	.	0.869904421163	0.86864	0.23227214108986666	0.23142	0.361563956541	0.37815	0.37709197402	0.21843	T	0.255847	0.62669	T	-0.332421	0.05929	T	-0.244444	0.50364	T	0.0112835168787181	0.00167	T	0.882912	0.66351	D	0.19768904	0.41643	0.20177399	0.44173	0.1658343	0.36879	0.23526555	0.48765	-3.604	0.17915	T	0.6895207082579828	0.76703	0.217	0.51600	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.274750	0.65067	24.8	0.99773894073725566	0.86174	0.88065	0.47833	D	AEFBI	0.278631	0.39287	N	0.561067129567012	0.70757	5.548846	0.526296077947164	0.69767	5.407329	0.819349698334001	0.24496	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.13	4.22	0.49153	3.985000	0.56640	6.910000	0.56896	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0741:0.1439:0.782:0.0	9.548	0.38458	184	0.92813	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.020141	0.020202	0.024457	0.035088	0.000000	0.025862	0.003049	0.007576	0.1	1512.14	33	chr9	95249215	.	G	A	1512.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.928;DP=432;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.91;SOR=0.666	GT:AD:DP:GQ:PL	0/1:45,27:72:99:598,0,1050	8	0	2	0
chr9	131049014	131049014	G	A	intronic	LAMC3	.	.	.	Cortical malformations, occipital, Autosomal recessive	1	1512	9	0	0	9	0.00296736	0.0001	0.002	.	273968	not_provided|not_specified|LAMC3-related_disorder|Intellectual_disability	MedGen:C3661900|MedGen:CN169374|.|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0011	0.000798722	0.0009	0.0004	0.0049	0	0	0.0012	0.0105	0.0003	0.0005563	86	154602	rs192031352	0.0016	0.0016	0.0016	0.0016	0.0073	0.0015	0.0015	0.0055	0.0048	0.0002	0.0017	0.0029	2.801e-05	0.0051	0.0073	0.0015	0.0017	0.0010	0.0017	0.0017	0.0016	0.0017	0.0024	0.0015	0.0014	0.0017	0.0015	9.626e-05	0.0362	0.0024	0.0026	0	0.0053	0	0.0016	0.0028	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	433.43	36	chr9	131049014	.	G	A	433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.23;DP=302;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=1.49;SOR=0.551	GT:AD:DP:GQ:PL	0/1:8,19:27:99:445,0,200	9	0	1	0
chr9	133568405	133568405	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon14:c.C2007T:p.A669A,ADAMTSL2:NM_014694:exon14:c.C2007T:p.A669A	Geleophysic dysplasia 1, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	901419	not_provided|Geleophysic_dysplasia_1	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003234	50	154602	rs372073271	0.0036	0.0036	0.0036	0.0036	0.0110	0.0035	0.0035	0.0088	0.0080	0.0007	0.0028	0.0068	2.538e-05	0.0017	0.0110	0.0040	0.0031	0.0016	0.0029	0.0030	0.0028	0.0031	0.0044	0.0027	0.0026	0.0036	0.0035	0.0012	0	0.0044	0.0063	0.0002	0.0018	0.0136	0.0040	0.0024	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.1	3649.14	34	chr9	133568405	.	C	T	3649.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.27;DP=659;ExcessHet=0.2348;FS=0.783;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.943;SOR=0.682	GT:AD:DP:GQ:PL	0/1:128,83:211:99:1826,0,2805	8	0	2	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	1/1:0,76:76:99:2286,228,0	1	4	5	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	1/1:0,3:3:9:84,9,0	1	7	2	0
chr10	23192692	23192692	C	T	exonic	PTF1A	.	synonymous SNV	PTF1A:NM_178161:exon1:c.C162T:p.S54S	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	315074	not_provided|Neonatal_insulin-dependent_diabetes_mellitus|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000857,MedGen:C3278636|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.014377	0.0085	0.0004	0.0004	0.0419	0	1.881e-05	0.0014	0.0365	0.0062224	962	154602	rs117678424	0.0029	0.0030	0.0021	0.0037	0.0326	0.0029	0.0028	0.0316	0.0311	0.0002	0.0002	0	0.0313	0	0.0019	2.812e-05	0.0046	0.0326	0.0025	0.0025	0.0018	0.0033	0.0365	0.0023	0.0022	0.0322	0.0306	0.0004	0	0.0005	0	0.0365	0	0	5.885e-05	0.0024	0.0342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.022727	0.05	1887.43	35	chr10	23192692	.	C	T	1887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.841;DP=526;ExcessHet=0;FS=4.431;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=2.88;SOR=0.436	GT:AD:DP:GQ:PL	0/1:94,83:177:99:1899,0,2347	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	1/1:0,29:29:87:924,87,0	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	0/1:51,57:108:99:1481,0,1264	4	0	6	0
chr10	71675134	71675134	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon14:c.C1472T:p.T491I,CDH23:NM_001171931:exon14:c.C1472T:p.T491I,CDH23:NM_022124:exon14:c.C1472T:p.T491I	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1507	14	1	0	16	0.00528053	.	.	.	55038	Usher_syndrome_type_1D|not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_12	MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.046	0.00780733628355	.	0.000199681	0.0001	0	0	0	0.0002	3.002e-05	0	0.0009	0.0001164	18	154602	rs397517307	7.662e-05	7.661e-05	5.309e-05	0.0001	0.0010	6.491e-05	6.071e-05	0.0008	0.0007	0	0	0	0	7.491e-05	0.0007	1.709e-05	4.969e-05	0.0010	4.595e-05	4.593e-05	3.854e-05	5.37e-05	0.0008	2.107e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0	0	0	4.41e-05	0	0.0008	0.034	0.44029	D	0.051	0.76473	T	0.005	0.12996	B	0.014	0.16862	B	0.000251	0.46924	D	0.136830	0.609467	0.32608	D	0.445	0.12748	N	.	.	.	-2.43	0.53258	N	0.235	0.61426	-1.0722	0.08936	T	0.068	0.27913	T	9	0.06233692	0.07953	T	0.007807	0.20720	T	0.046	0.12618	0.407	0.44066	0.681506247658	0.67879	0.3607564847870143	0.35989	.	.	0.51847165823	0.41411	T	0.028988	0.53038	T	-0.441984	0.01259	T	-0.458097	0.26806	T	0.0661126765743497	0.08095	T	0.80032	0.44603	T	0.08309453	0.19174	0.14932433	0.35262	0.08006618	0.18326	0.25829297	0.51559	-5.845	0.44965	T	.	.	0.072	0.07841	B	.;.;.;.;.;.	.;.;.;.;.;.	2.775661	0.36443	20.2	0.99687927320463887	0.79708	0.88440	0.48369	D	AEFDBI	0.242165	0.36367	N	-0.430966283039247	0.24390	1.316608	-0.227183260809623	0.30566	1.722127	0.996872804950249	0.35080	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.72	2.61	0.30255	1.974000	0.40183	2.789000	0.34784	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.746000	0.35646	0.0:0.6803:0.2532:0.0666	12.092	0.53036	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	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	2560.43	43	chr10	71675134	.	C	T	2560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.006;DP=691;ExcessHet=0;FS=1.238;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=1.21;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,68:161:99:0|1:71675131_G_C:2572,0,3629:71675131	9	0	1	0
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	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	1/1:0,19:19:57:528,57,0	0	8	2	0
chr11	640109	640109	A	C	exonic	DRD4	.	nonsynonymous SNV	DRD4:NM_000797:exon3:c.A860C:p.Q287P	Autonomic nervous system dysfunction (3)	523	971	19	1	8	29	0.0106979	.	.	.	1196077	not_specified|Hereditary_attention_deficit-hyperactivity_disorder|not_provided|DRD4-related_disorder	MedGen:CN169374|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.084	.	.	.	0.0918	0.5	0.1667	.	0	0.1923	0	0	0.0017917	277	154602	rs769762387	0.1063	0.0934	0.1108	0.1015	0.1211	0.1058	0.1055	0.1205	0.1202	0.1157	0.0188	0.0512	0.0011	0.0122	0.0407	0.1211	0.0778	0.0169	0.1111	0.1203	0.1161	0.1058	0.1524	0.1091	0.1083	0.1475	0.1455	0.1524	0.0723	0.1095	0.0983	0.0047	0.0967	0.0968	0.1107	0.0947	0.0321	0.187	0.21385	T	0.28	0.21678	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.32	0.68181	T	-0.5	0.15782	N	0.097	0.07811	-0.9799	0.35025	T	0.171	0.51229	T	6	0.0014480054	0.00016	T	.	.	.	0.084	0.24469	.	.	0.107399877778	0.10242	0.36882967111492193	0.36796	0.343915624163	0.36316	0.533386111259	0.43513	T	.	.	.	-0.574786	0.00207	T	-0.480285	0.24416	T	0.00964762916747873	0.00125	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00031	B	.	.	-0.293531	0.02646	0.336	0.15502331784184875	0.00382	0.01048	0.03908	N	AEFBI	0.131186	0.25003	N	-1.49389585525914	0.01893	0.08305123	-1.74504118575407	0.00952	0.04262861	0.999784558211461	0.43007	0.582742	0.33608	0	0.514364	0.08380	0	0.606884	0.38211	0	0.620976	0.48614	0	.	.	0.852	-1.7	0.07721	-3.055000	0.00688	-1.955000	0.04439	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2421:0.0:0.5759:0.182	4.802	0.12668	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.027634	0.046875	0.020231	0.009009	0.062500	0.017241	0.064356	0.026667	0.15	297.44	35	chr11	640109	.	A	C	297.44	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.395;DP=225;ExcessHet=0.7463;FS=12.068;InbreedingCoeff=-0.1762;MLEAC=3;MLEAF=0.15;MQ=59.72;MQRankSum=0;QD=5.04;ReadPosRankSum=-0.891;SOR=2.114	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,4:10:99:0|1:640099_A_G:139,0,223:640099	7	0	3	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	21	72	439	990	0	2419	0.943816	.	.	.	326978	Maturity-onset_diabetes_of_the_young_type_10|Type_1_diabetes_mellitus_2|Autosomal_recessive_DOPA_responsive_dystonia|Diabetes_mellitus,_permanent_neonatal_4|Transient_Neonatal_Diabetes,_Dominant/Recessive|Diabetes_mellitus_type_1|not_provided|Hyperproinsulinemia|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MedGen:CN239353|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|MedGen:C3661900|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.8	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	0|1:115,74:189:99:0|1:2159830_T_G:1667,0,4415:2159830	0	6	4	0
chr11	6616509	6616509	T	-	intronic	TPP1	.	.	.	Ceroid lipofuscinosis, neuronal, 2, Autosomal recessive;Spinocerebellar ataxia, autosomal recessive 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	321432	Neuronal_Ceroid-Lipofuscinosis,_Recessive|Neuronal_ceroid_lipofuscinosis_2|not_specified|not_provided	MedGen:CN239323|MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1142	0.0799	0.0493	0.0916	0.0410	0.1069	0.1220	0.1456	0.0005379	14	26028	rs35039601	0.3989	0.3867	0.4023	0.3954	0.4118	0.3980	0.3976	0.4108	0.4104	0.3181	0.3268	0.3599	0.3573	0.3454	0.3614	0.4118	0.3926	0.3499	0.5430	0.5451	0.5416	0.5444	0.6143	0.5396	0.5382	0.5937	0.5854	0.4376	0.6847	0.5590	0.5754	0.5442	0.5465	0.5397	0.5915	0.5301	0.6143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4254.15	29	chr11	6616508	.	AT	A	4254.15	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.037;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=19.79;ReadPosRankSum=-0.896;SOR=0.787	GT:AD:DP:GQ:PL	0/1:1,9:14:46:251,66,46	2	0	8	0
chr11	17276578	17276578	C	G	upstream	NUCB2	dist=136	.	.	.	1177	165	27	153	0	333	0.502262	.	.	.	132617	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.665136	.	.	.	.	.	.	.	.	0.611226	15909	26028	rs214088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6236	0.6237	0.6233	0.6239	0.8166	0.6202	0.6189	0.7960	0.7876	0.6476	0.6747	0.6715	0.6983	0.8166	0.5278	0.6156	0.5913	0.6627	0.6438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	347.9	2	chr11	17276578	.	C	G	347.9	.	AC=6;AF=0.5;AN=12;DP=16;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;QD=32.66;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:17276557_A_C:180,12,0:17276557	3	3	0	4
chr11	17386071	17386071	T	C	UTR3	KCNJ11	NM_001166290:c.*848A>G;NM_000525:c.*848A>G;NM_001377297:c.*848A>G;NM_001377296:c.*848A>G	.	.	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	.	.	.	.	.	.	.	.	.	.	867605	Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2|Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00359425	.	.	.	.	.	.	.	.	0.0002135	33	154602	rs5206	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	.	0	0	0	0	0.0027	0.0027	0.0028	0.0026	0.0072	0.0025	0.0024	0.0065	0.0063	0.0072	0	0.0017	0.0132	0	9.423e-05	0.0034	0.0004	0.0066	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	.	.	.	.	.	.	.	.	0.05556	67.58	5	chr11	17386071	.	T	C	67.58	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.524;DP=25;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.524;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,3:5:75:1|0:17386069_A_T:77,0,75:17386069	8	0	1	1
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	0/1:26,50:76:99:1237,0,513	1	4	5	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	0/1:21,15:36:99:399,0,527	4	2	4	0
chr11	17410600	17410600	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon22:c.C2610T:p.A870A,ABCC8:NM_001287174:exon22:c.C2613T:p.A871A,ABCC8:NM_001351295:exon22:c.C2676T:p.A892A,ABCC8:NM_001351296:exon22:c.C2610T:p.A870A,ABCC8:NM_001351297:exon22:c.C2607T:p.A869A	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	192808	Permanent_neonatal_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_transient_neonatal,_2|not_provided|Hereditary_hyperinsulinism|Inborn_genetic_diseases|Transitory_neonatal_diabetes_mellitus	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0013	0.000798722	0.0008	0.0035	0.0034	0	0	0.0002	0.0022	0.0001	0.0006856	106	154602	rs111967655	0.0003	0.0003	0.0003	0.0002	0.0037	0.0002	0.0002	0.0031	0.0029	0.0037	0.0017	0.0026	0	0	0.0010	6.295e-05	0.0009	3.478e-05	0.0011	0.0011	0.0010	0.0011	0.0031	0.0009	0.0009	0.0027	0.0025	0.0031	0	0.0008	0.0026	0	0	0.0034	0.0001	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.002014	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1100.43	33	chr11	17410600	.	G	A	1100.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=422;ExcessHet=0;FS=1.589;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.668;SOR=0.919	GT:AD:DP:GQ:PL	0/1:61,45:106:99:1112,0,1438	9	0	1	0
chr11	17414293	17414293	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	703	213	106	500	0	1106	0.721932	.	.	.	1166871	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.904153	.	.	.	.	.	.	.	.	0.865875	22537	26028	rs4148632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8922	0.8921	0.8924	0.8919	0.9655	0.8882	0.8865	0.9576	0.9543	0.9655	0.9134	0.8980	0.8767	0.9122	0.8735	0.8163	0.8525	0.8925	0.8324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	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	1/1:0,5:5:15:158,15,0	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	1/1:0,22:22:66:726,66,0	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	1/1:0,43:43:99:1352,129,0	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	1/1:0,106:106:99:2976,317,0	3	6	1	0
chr11	17428382	17428382	C	T	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon14:c.G1947A:p.K649K,ABCC8:NM_001287174:exon14:c.G1947A:p.K649K,ABCC8:NM_001351295:exon14:c.G2013A:p.K671K,ABCC8:NM_001351296:exon14:c.G1944A:p.K648K,ABCC8:NM_001351297:exon14:c.G1944A:p.K648K	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	1	1120	365	36	0	437	0.163242	.	.	YES	167534	Permanent_neonatal_diabetes_mellitus|Type_2_diabetes_mellitus|not_specified|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:CN169374|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1567	0.202077	0.1785	0.1816	0.1202	0.1671	0.1980	0.1587	0.1689	0.2962	0.173064	26756	154602	rs1799858	0.1599	0.1599	0.1565	0.1632	0.2802	0.1593	0.1591	0.2773	0.2760	0.1811	0.1311	0.1863	0.1992	0.1981	0.1185	0.1471	0.1660	0.2802	0.1659	0.1663	0.1609	0.1712	0.2891	0.1642	0.1635	0.2764	0.2713	0.1777	0.1187	0.1581	0.1907	0.1991	0.1888	0.0918	0.1457	0.1552	0.2891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.123867	0.075758	0.101902	0.160819	0.050000	0.129310	0.094512	0.174242	0.15	3647.45	34	chr11	17428382	.	C	T	3647.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.843;DP=570;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.158;SOR=0.694	GT:AD:DP:GQ:PL	0/1:48,39:87:99:824,0,1136	7	0	3	0
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H,ABCC8:NM_001287174:exon12:c.C1686T:p.H562H,ABCC8:NM_001351295:exon12:c.C1686T:p.H562H,ABCC8:NM_001351296:exon12:c.C1683T:p.H561H,ABCC8:NM_001351297:exon12:c.C1683T:p.H561H	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	8	536	705	273	0	1251	0.538528	.	.	.	167532	Permanent_neonatal_diabetes_mellitus|not_provided|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Cerebral_edema|not_specified|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4587	0.429912	0.4311	0.4812	0.3021	0.2844	0.4180	0.4470	0.4546	0.5041	0.426075	65872	154602	rs1799857	0.4459	0.4459	0.4447	0.4471	0.4959	0.4450	0.4446	0.4920	0.4904	0.4747	0.3195	0.4445	0.3087	0.4107	0.4108	0.4535	0.4380	0.4959	0.4417	0.4417	0.4437	0.4395	0.4867	0.4389	0.4377	0.4745	0.4722	0.4801	0.3516	0.3803	0.4438	0.3002	0.4127	0.3537	0.4459	0.4296	0.4867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.414560	0.333333	0.405995	0.438596	0.500000	0.500000	0.393293	0.431298	0.35	14414.9	36	chr11	17430945	.	G	A	14414.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.142;DP=922;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=19.48;ReadPosRankSum=0.348;SOR=0.669	GT:AD:DP:GQ:PL	0/1:81,69:150:99:1583,0,1917	5	2	3	0
chr11	22218262	22218262	A	G	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon4:c.A152G:p.N51S,ANO5:NM_213599:exon4:c.A155G:p.N52S	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	2	1504	16	0	0	16	0.00529101	.	.	YES	194564	Gnathodiaphyseal_dysplasia|not_provided|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L|ANO5-Related_Muscle_Diseases	MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549|MedGen:CN180644	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.167	0.0771798226101	0.0025	0.00119808	0.0019	0.0007	0.0023	0	0.0012	0.0024	0.0055	0.0016	0.0020181	312	154602	rs143777403	0.0028	0.0028	0.0027	0.0028	0.0045	0.0027	0.0027	0.0032	0.0030	0.0006	0.0021	3.83e-05	0	0.0013	0.0045	0.0031	0.0028	0.0023	0.0024	0.0024	0.0026	0.0022	0.0048	0.0022	0.0021	0.0039	0.0036	0.0008	0	0.0048	0.0003	0	0.0009	0	0.0034	0.0033	0.0021	0.155	0.24183	T	0.354	0.17268	T	0.982	0.60036	D	0.473	0.46845	P	0.000094	0.51296	D	0.136478	0.867587	0.35502	D	1.28	0.32218	L	-0.55	0.71068	T	-1.51	0.36787	N	0.828	0.82358	-0.5162	0.68058	T	0.288	0.65968	T	10	0.037495136	0.02108	T	0.07718	0.72709	D	0.167	0.42761	.	.	0.855486035999	0.85409	0.31611475711489445	0.31524	0.41921375861	0.42481	0.45931917429	0.33217	T	0.059543	0.31144	T	-0.472193	0.00824	T	-0.451569	0.27523	T	0.0119192627461977	0.00186	T	0.735226	0.35154	T	0.11971893	0.28185	0.14512795	0.34431	0.11971893	0.28184	0.14512795	0.34430	-3.364	0.14576	T	.	.	0.116	0.23360	B	.	.	3.078039	0.41394	21.3	0.99346575813317328	0.60412	0.97183	0.73178	D	AEFI	0.677588	0.64224	D	0.406070488179022	0.61755	4.381049	0.483276382154926	0.66882	5.010275	0.973475985227051	0.29459	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.87	5.87	0.94266	6.137000	0.71462	11.125000	0.86648	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.281	0.82514	795	0.45444	.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	3586.43	39	chr11	22218262	.	A	G	3586.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=652;ExcessHet=0;FS=0.42;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.267;SOR=0.65	GT:AD:DP:GQ:PL	0/1:144,155:299:99:3598,0,3141	9	0	1	0
chr11	31793814	31793814	G	A	intronic	PAX6	.	.	.	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	1	1280	221	20	0	261	0.0925204	0	0	.	254136	not_provided|Aniridia_1|11p_partial_monosomy_syndrome|Anophthalmia-microphthalmia_syndrome|Abnormality_of_refraction|Irido-corneo-trabecular_dysgenesis|carboxymethyl-dextran-A2-gadolinium-DOTA|Autosomal_dominant_keratitis|Foveal_hypoplasia_1|not_specified|Aniridia,_Cerebellar_Ataxia,_And_Intellectual_Disability	MedGen:C3661900|MONDO:MONDO:0024507,MedGen:C0344542,OMIM:106210,Orphanet:250923|MONDO:MONDO:0008681,MedGen:C0206115,OMIM:194072,Orphanet:893|MedGen:C5680330,Orphanet:98555|Human_Phenotype_Ontology:HP:0000539,MedGen:C4025843|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|.|MONDO:MONDO:0007848,MedGen:C1835698,OMIM:148190,Orphanet:2334|MONDO:MONDO:0007628,MedGen:C3805604,OMIM:136520,Orphanet:2253|MedGen:CN169374|MedGen:CN239197	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0459	0.0904553	0.0779	0.0398	0.2073	0.1936	0.0554	0.0518	0.0642	0.0660	0.0753354	11647	154602	rs667773	0.0579	0.0580	0.0582	0.0576	0.1929	0.0576	0.0575	0.1895	0.1881	0.0436	0.1929	0.0745	0.1485	0.0520	0.1245	0.0476	0.0709	0.0697	0.0616	0.0617	0.0594	0.0639	0.1929	0.0605	0.0601	0.1829	0.1789	0.0418	0.0055	0.1300	0.0718	0.1929	0.0499	0.1497	0.0492	0.0710	0.0681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4164.43	42	chr11	31793814	.	G	A	4164.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.091;DP=729;ExcessHet=0;FS=2.952;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.044;SOR=0.544	GT:AD:DP:GQ:PL	0/1:203,173:376:99:4176,0,5147	9	0	1	0
chr11	61958159	61958159	C	T	exonic	BEST1	.	nonsynonymous SNV	BEST1:NM_001363591:exon5:c.C410T:p.A137V,BEST1:NM_001139443:exon6:c.C548T:p.A183V,BEST1:NM_001300786:exon6:c.C548T:p.A183V,BEST1:NM_001300787:exon6:c.C548T:p.A183V,BEST1:NM_001363592:exon7:c.C728T:p.A243V,BEST1:NM_004183:exon7:c.C728T:p.A243V	Bestrophinopathy, autosomal recessive;Macular dystrophy, vitelliform, 2, Autosomal dominant;Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Autosomal dominant;Retinitis pigmentosa, concentric;Retinitis pigmentosa-50;Vitreoretinochoroidopathy, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	17776	Retinal_dystrophy|Vitelliform_macular_dystrophy_2|not_provided|Vitelliform_macular_dystrophy_1|Autosomal_dominant_vitreoretinochoroidopathy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243|MedGen:C3661900|MONDO:MONDO:0007933,MedGen:C4551953,OMIM:153840,Orphanet:99000|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220,Orphanet:263347,Orphanet:3086	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.939	0.601338176067	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs28940570	6.18e-06	6.163e-06	4.101e-06	8.279e-06	0.0002	2.91e-06	2.11e-06	1.95e-06	1.28e-06	3e-05	0	0	0	0	0.0002	5.418e-06	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	A	2.98	0.85499	M	-5.2	0.98852	D	-3.92	0.73151	D	0.927	0.93135	1.080	0.98878	D	0.976	0.99251	D	9	0.9887816	0.99312	D	0.601338	0.96491	D	0.939	0.98672	0.963	0.99627	0.99396440531	0.99389	0.8087822321045613	0.80833	0.96835728464	0.73271	0.740800857544	0.73090	T	0.934516	0.98920	D	0.528246	0.95140	D	0.521012	0.95068	D	0.9835604429245	0.75184	D	0.988501	0.96026	D	0.68697536	0.77347	0.5292981	0.72803	0.6219698	0.73870	0.56277543	0.74699	-11.112	0.80269	D	0.38101511345385736	0.47545	0.801	0.77310	P	.;.;.	.;.;.	4.471988	0.69692	25.4	0.9987836238871135	0.95491	0.98492	0.83351	D	AEFDBI	0.948661	0.96052	D	0.754451501140545	0.83194	7.954005	0.675786760129567	0.80546	7.322536	0.999999999999997	0.74766	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	4.96	4.96	0.65153	7.707000	0.83595	3.745000	0.39664	0.544000	0.25403	1.000000	0.71638	0.999000	0.35428	0.960000	0.51673	0.0:1.0:0.0:0.0	17.821	0.88561	754	0.51307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1595.12	42	chr11	61958159	.	C	T	1595.12	.	AC=2;AF=0.1;AN=20;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.9;SOR=1.519	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1618,150,0	9	1	0	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	1/1:0,248:248:99:7436,743,0	5	1	4	0
chr11	103358271	103358271	G	A	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001377:exon83:c.G12068A:p.R4023K,DYNC2H1:NM_001080463:exon84:c.G12089A:p.R4030K	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	.	.	.	.	.	.	.	.	.	799634	not_specified|Inborn_genetic_diseases|Jeune_thoracic_dystrophy	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	0.0272656831164	.	.	0.0002	0.0011	0.0011	0	0	5.258e-05	0	0	8.41e-05	13	154602	rs771264933	4.807e-05	5.678e-05	4.835e-05	4.778e-05	0.0004	3.863e-05	3.54e-05	0.0002	0.0002	0.0004	0.0004	0.0009	0	0	0.0003	1.002e-05	8.416e-05	0	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0003	0.0006	0	0	0	0	0	0	0.395	0.29029	T	0.606	0.92824	T	0.0	0.02946	B	0.005	0.11217	B	0.000002	0.62929	D	0.000000	1	0.81001	D	2.135	0.59519	M	3.16	0.48769	T	-1.38	0.50666	N	0.25	0.28264	-0.8870	0.49189	T	0.139	0.45678	T	10	0.09110901	0.15931	T	0.027266	0.50098	D	0.178	0.44724	.	.	0.639407458861	0.63643	0.4883942403694956	0.48759	0.0628276050667	0.06995	0.564874649048	0.47954	T	0.048919	0.28156	T	-0.235924	0.15873	T	-0.194697	0.55149	T	0.0810355440661545	0.10119	T	0.713829	0.32570	T	0.3473256	0.56858	0.32049865	0.58004	0.3473256	0.56859	0.32049865	0.58003	-2.876	0.08906	T	0.6347491924356496	0.70461	0.119	0.25527	B	.;.;.;.;.	.;.;.;.;.	3.574991	0.50375	22.9	0.94119386401252869	0.24296	0.97503	0.75172	D	AEFI	0.856308	0.77353	D	0.00157685030086278	0.41927	2.516725	0.182073601179569	0.48866	3.096823	0.999999927590384	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.44	5.44	0.79348	7.695000	0.83490	.	.	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.448000	0.27851	0.0:0.0:1.0:0.0	18.029	0.89202	698	0.58074	Dynein heavy chain domain;Dynein heavy chain 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	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	587.43	35	chr11	103358271	.	G	A	587.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.56;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-1.015;SOR=0.688	GT:AD:DP:GQ:PL	0/1:30,25:55:99:599,0,768	9	0	1	0
chr11	128917591	128917595	TGTTT	-	UTR3	KCNJ5	NM_000890:c.*860_*864delTGTTT;NM_001354169:c.*860_*864delTGTTT	.	.	Hyperaldosteronism, familial, type III, Autosomal dominant;Long QT syndrome 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	319434	not_provided|Familial_hyperaldosteronism|Congenital_long_QT_syndrome	MedGen:C3661900|MONDO:MONDO:0016525,MedGen:C3713420,OMIM:PS103900,Orphanet:235936,Orphanet:371861|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037268	97	26028	rs1179038179	0.0583	0.0077	0.0625	0.0568	1.0000	0.0274	0.0194	0.1777	0.0743	0	.	.	1.0000	0	.	0.0490	0	.	0.1355	0.1372	0.1297	0.1416	0.4263	0.1339	0.1333	0.4113	0.4051	0.2295	0.0379	0.2031	0.0751	0.4263	0.0385	0.0764	0.0492	0.1234	0.3262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	376.35	1	chr11	128917590	.	GTGTTT	G	376.35	.	AC=1;AF=0.083;AN=12;DP=20;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.8;SOR=0.892	GT:AD:DP:GQ:PL	0/1:0,2:4:78:168,84,78	5	0	1	4
chr12	5045880	5045880	G	A	exonic	KCNA5	.	nonsynonymous SNV	KCNA5:NM_002234:exon1:c.G1733A:p.R578K	Atrial fibrillation, familial, 7, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	189357	not_provided|not_specified|Atrial_fibrillation,_familial,_7|Brugada_syndrome_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012828,MedGen:C2677106,OMIM:612240|MONDO:MONDO:0011001,MedGen:C4551804,OMIM:601144,Orphanet:130	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.232	.	0.0073	0.00319489	0.0054	0.0032	0.0044	0	0.0012	0.0083	0.0022	0.0006	0.0059184	915	154602	rs12720445	0.0091	0.0091	0.0094	0.0088	0.0112	0.0090	0.0089	0.0110	0.0110	0.0016	0.0046	0.0007	0	0.0008	0.0014	0.0112	0.0072	0.0005	0.0059	0.0059	0.0065	0.0053	0.0097	0.0056	0.0055	0.0091	0.0088	0.0022	0.0537	0.0047	0	0	0.0010	0	0.0097	0.0076	0.0002	0.034	0.44029	D	0.467	0.12351	T	0.001	0.07471	B	0.002	0.06944	B	0.028022	0.25665	U	0.285392	0.998303	0.22236	N	2.14	0.59869	M	-4.37	0.97343	D	0.16	0.05217	N	0.188	0.20528	-0.1728	0.78360	T	0.720	0.90382	D	10	0.007783413	0.00177	T	.	.	.	0.232	0.53354	.	.	0.999741823116	0.99973	0.16057698210699195	0.15978	0.642789163195	0.57839	0.417012035847	0.27426	T	0.206817	0.56627	T	-0.260844	0.12801	T	-0.136429	0.60426	T	0.00380054392776235	0.00040	T	0.558744	0.19484	T	0.20395814	0.42489	0.15977775	0.37247	0.20395814	0.42489	0.15977775	0.37246	-4.196	0.26694	T	.	.	0.088	0.11461	B	.	.	2.438513	0.31384	18.72	0.96580960013629913	0.30333	0.60035	0.31081	D	AEFDGBI	0.228213	0.35192	N	-0.348400938143617	0.27330	1.498663	-0.223004349494425	0.30714	1.731695	0.199068840110619	0.18099	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.542086	0.14980	0	.	.	4.76	4.76	0.60189	1.772000	0.38182	7.265000	0.57972	0.590000	0.31872	0.908000	0.31627	1.000000	0.68203	0.344000	0.25523	0.1699:0.0:0.8301:0.0	8.84	0.34294	683	0.59664	.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	2557.43	36	chr12	5045880	.	G	A	2557.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.018;DP=557;ExcessHet=0;FS=1.736;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.032;SOR=0.839	GT:AD:DP:GQ:PL	0/1:100,101:201:99:2569,0,2460	9	0	1	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374648:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374649:exon1:c.136_147del:p.E48_S51del,PEX5:NM_000319:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131023:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001131024:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131025:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001300789:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351124:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351126:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351128:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351130:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351131:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351132:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351134:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351135:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351136:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351137:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351138:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351139:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374645:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374646:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131026:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351127:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351133:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351140:exon3:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	0	177	7	42	0	91	0.204494	.	.	.	778118	Peroxisome_biogenesis_disorder_2B|Rhizomelic_chondrodysplasia_punctata_type_5|not_specified|Peroxisome_biogenesis_disorder_2A_(Zellweger)|not_provided	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MedGen:CN169374|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.268e-05	0.0004	0	0	0	1.945e-05	0	0	3.84e-05	1	26028	rs757612863	0.2520	0.2523	0.2418	0.2624	0.7201	0.2513	0.2511	0.7131	0.7102	0.2717	0.3801	0.4508	0.7201	0.5171	0.2871	0.1987	0.3556	0.3579	0.5401	0.6749	0.5600	0.5186	0.6619	0.5362	0.5345	0.6379	0.6282	0.4367	0.4674	0.5855	0.6481	0.6619	0.4898	0.5586	0.6009	0.5226	0.2956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	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	1/1:0,15:15:55:629,55,0	3	6	1	0
chr12	40308618	40308618	A	G	exonic	LRRK2	.	nonsynonymous SNV	LRRK2:NM_198578:exon29:c.A4111G:p.I1371V	.	0	1517	4	1	0	6	0.00197368	.	.	.	47782	Autosomal_dominant_Parkinson_disease_8|not_provided	MONDO:MONDO:0011764,MedGen:C1846862,OMIM:607060,Orphanet:411602|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.453	0.0335221870814	0.0006	0.00119808	0.0010	0.0007	0.0003	0.0005	0.0002	0.0005	0.0022	0.0044	0.0009314	144	154602	rs17466213	0.0008	0.0008	0.0008	0.0009	0.0041	0.0008	0.0008	0.0038	0.0036	0.0002	0.0005	0.0002	0.0001	3.745e-05	0.0016	0.0007	0.0009	0.0041	0.0007	0.0007	0.0007	0.0006	0.0044	0.0006	0.0005	0.0029	0.0025	0.0005	0	0.0002	0	0.0002	0	0.0102	0.0007	0.0009	0.0044	0.438	0.09319	T	0.155	0.31936	T	0.293	0.32367	B	0.155	0.34417	B	0.000000	0.84330	D	0.050107	0.999984	0.54805	D	0.425	0.12573	N	-1.34	0.79944	T	-0.31	0.12099	N	0.76	0.75834	-0.6205	0.63968	T	0.304	0.67529	T	10	0.017168522	0.00365	T	0.033522	0.55037	D	0.453	0.75279	.	.	.	.	0.5195773157240728	0.51880	0.432461727185	0.43422	0.54245108366	0.44791	T	0.135389	0.46717	T	-0.120951	0.32968	T	0.0526471	0.73759	D	0.0174098161126799	0.00479	T	0.841716	0.51747	T	0.3371646	0.56053	0.32380006	0.58309	0.29727426	0.52658	0.31154397	0.57160	-6.042	0.46629	T	0.2257884130344001	0.30509	0.139	0.30423	B	.	.	2.571027	0.33319	19.30	0.99016912086365916	0.50484	0.92902	0.56828	D	AEFI	0.716227	0.66813	D	-0.113500431814409	0.36805	2.132383	0.0773266853195519	0.43410	2.643377	0.648756897176261	0.22138	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	5.254000	0.65274	11.007000	0.84821	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	1.0:0.0:0.0:0.0	15.410	0.74631	788	0.46569	Roc domain|Small GTP-binding protein 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	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2217.43	34	chr12	40308618	.	A	G	2217.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.502;DP=526;ExcessHet=0;FS=3.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.957;SOR=0.687	GT:AD:DP:GQ:PL	0/1:94,103:197:99:2229,0,2113	9	0	1	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	1/1:0,17:17:51:555,51,0	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	0/1:31,31:62:99:732,0,654	0	6	4	0
chr12	76346369	76346369	G	A	exonic	BBS10	.	nonsynonymous SNV	BBS10:NM_024685:exon2:c.C1616T:p.P539L	Bardet-Biedl syndrome 10, Autosomal recessive	4	1146	322	50	0	422	0.15549	.	.	.	177141	Bardet-Biedl_syndrome|not_specified|not_provided|Bardet-Biedl_syndrome_10	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	.	0.0551	0.0335463	0.0647	0.0125	0.0371	0.0001	0.0635	0.0792	0.0762	0.0918	0.0598699	9256	154602	rs35676114	0.0746	0.0746	0.0731	0.0761	0.1413	0.0742	0.0741	0.1333	0.1300	0.0125	0.0384	0.0794	0.0005	0.0596	0.1413	0.0791	0.0763	0.0957	0.0555	0.0556	0.0554	0.0557	0.0914	0.0545	0.0541	0.0844	0.0816	0.0144	0.0757	0.0501	0.0801	0.0004	0.0662	0.1156	0.0799	0.0602	0.0914	0.453	0.08917	T	0.369	0.16522	T	0.001	0.07471	B	0.0	0.01387	B	0.787526	0.09423	N	0.883658	1	0.08975	N	0.03	0.08032	N	-1.87	0.84415	D	-1.63	0.39119	N	0.033	0.00882	-0.9391	0.42759	T	0.062	0.25923	T	10	0.0018639565	0.00025	T	.	.	.	0.124	0.34239	.	.	.	.	0.2679530290946429	0.26708	0.0586897436536	0.06515	0.213595598936	0.00973	T	0.322653	0.69364	T	-0.575935	0.00204	T	-0.528887	0.19398	T	0.00279913554226781	0.00029	T	0.450755	0.12737	T	0.025135	0.01417	0.038665097	0.03786	0.0298414	0.02545	0.040621962	0.04432	-3.808	0.20924	T	0.09762239229038064	0.06889	0.08	0.07793	B	.;.	.;.	-0.019470	0.04151	0.994	0.61837539723277835	0.06809	0.05604	0.11509	N	AEFDBCIJ	0.043003	0.06745	N	-0.895660138183266	0.10945	0.5256198	-0.942612549275817	0.11094	0.5631424	0.999917383432791	0.45857	0.706298	0.61202	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.95	0.792	0.17769	0.305000	0.19006	1.034000	0.23503	0.676000	0.76740	0.000000	0.06391	0.338000	0.24408	0.027000	0.12703	0.4803:0.0:0.5197:0.0	8.240	0.30816	953	0.10115	.;.	BBS10|BBS10|BBS10|OSBPL8	Cells_Cultured_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs35676114	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.123867	0.070707	0.126359	0.160819	0.050000	0.137931	0.131098	0.128788	0.15	5326.45	134	chr12	76346369	.	G	A	5326.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.126;DP=688;ExcessHet=0.7463;FS=1.102;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.303;SOR=0.72	GT:AD:DP:GQ:PL	0/1:67,55:122:99:1300,0,1692	7	0	3	0
chr12	120739317	120739317	A	G	exonic	ACADS	.	nonsynonymous SNV	ACADS:NM_000017:exon10:c.A1108G:p.M370V,ACADS:NM_001302554:exon10:c.A1096G:p.M366V	Acyl-CoA dehydrogenase, short-chain, deficiency of, Autosomal recessive	0	1494	28	0	0	28	0.00928382	.	.	.	200245	Deficiency_of_butyryl-CoA_dehydrogenase|Type_2_diabetes_mellitus|not_provided	MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792|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	.	.	.	.	.	.	.	.	0.923	.	.	0.00319489	0.0022	0	0.0002	0	0.0002	0.0002	0.0070	0.0143	0.0018564	287	154602	rs566325901	0.0009	0.0009	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	5.975e-05	0.0001	0.0001	0	9.547e-05	0.0031	0.0002	0.0008	0.0128	0.0005	0.0005	0.0003	0.0008	0.0145	0.0004	0.0004	0.0118	0.0108	0	0	0.0001	0	0	0	0	0.0001	0	0.0145	0.051	0.53172	T	0.028	0.54934	D	0.818	0.45651	P	0.291	0.40706	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.595	0.15482	N	-3.85	0.95859	D	-3.83	0.72120	D	0.948	0.95608	0.656	0.92626	D	0.764	0.91953	D	10	0.028777868	0.01008	T	.	.	.	0.923	0.98079	.	.	0.970739665433	0.97042	0.9502718581226505	0.95010	0.770922189815	0.64756	0.717661619186	0.69705	T	0.875532	0.97347	D	0.157138	0.69935	D	0.463972	0.93882	D	0.0599859771721227	0.07166	T	0.983668	0.94607	D	0.7723314	0.82188	0.6916848	0.81856	0.82393956	0.85488	0.72276574	0.83629	-7.831	0.59913	D	0.5274915690359021	0.59883	0.162	0.35705	B	.;.	.;.	4.633774	0.73696	26.0	0.99358178166899647	0.60904	0.98346	0.81852	D	AEFDBI	0.964973	0.98721	D	0.374761369312287	0.60058	4.190697	0.432990466616109	0.63633	4.60088	0.999996781295101	0.74766	0.700653	0.57754	0	0.643519	0.57511	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.74	4.74	0.59717	8.964000	0.92969	11.132000	0.86827	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	14.260	0.65626	503	0.75780	Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site;Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site	.	.	.	.	.	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	0.004532	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.026515	0.1	2457.14	34	chr12	120739317	.	A	G	2457.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.057;DP=537;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.386;SOR=0.691	GT:AD:DP:GQ:PL	0/1:63,66:129:99:1387,0,1561	8	0	2	0
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L,HNF1A:NM_001306179:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	2	270	714	536	0	1786	0.767842	.	.	YES	134680	not_provided|Maturity-onset_diabetes_of_the_young_type_3|not_specified|Type_2_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4175	0.428514	0.4722	0.3467	0.4430	0.3969	0.4887	0.4772	0.5226	0.5739	0.0001537	4	26028	rs1169289	0.4566	0.4566	0.4516	0.4616	0.6297	0.4557	0.4553	0.6126	0.6057	0.3411	0.4475	0.5840	0.4311	0.4803	0.6297	0.4472	0.4625	0.5707	0.4301	0.4302	0.4244	0.4360	0.5691	0.4273	0.4262	0.5513	0.5441	0.3324	0.4382	0.4585	0.5786	0.3892	0.4991	0.6293	0.4561	0.4691	0.5691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.600505	0.586735	0.589674	0.664706	0.400000	0.646552	0.592025	0.595420	0.55	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	1/1:0,77:77:99:2333,231,0	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	1/1:0,159:159:99:4980,476,0	3	1	6	0
chr12	132730335	132730397	CCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	-	intronic	ANKLE2	.	.	.	.	439	456	411	216	0	843	0.480342	.	.	.	791214	Microcephaly_16,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0014730,MedGen:C4225249,OMIM:616681,Orphanet:2512|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	0.3599	0.3308	0.3572	0.3627	0.3949	0.3590	0.3586	0.3800	0.3740	0.2624	0.3523	0.4405	0.1661	0.4326	0.3949	0.3654	0.3676	0.3689	0.4049	0.4061	0.4063	0.4035	0.4607	0.4022	0.4011	0.4564	0.4546	0.3189	0.5621	0.3897	0.4957	0.1763	0.4643	0.4558	0.4607	0.4041	0.4202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	8133.91	31	chr12	132730334	.	CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	C	8133.91	.	AC=11;AF=0.55;AN=20;BaseQRankSum=1.61;DP=371;ExcessHet=0;FS=4.073;InbreedingCoeff=0.798;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=32.57;ReadPosRankSum=0.328;SOR=1.345	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,40:40:99:.:.:1814,128,0:.	4	5	1	0
chr13	23375106	23375106	G	A	intronic	SACS	.	.	.	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	3	1504	15	0	0	15	0.00496196	.	.	.	254841	not_specified|Spastic_paraplegia|not_provided|Charlevoix-Saguenay_spastic_ataxia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0104	0.0141773	0.0068	0.0271	0	0	0	0.0203	0.0268	0.0010	0.0015265	236	154602	rs374672041	0.0022	0.0022	0.0023	0.0021	0.0461	0.0021	0.0021	0.0440	0.0431	0.0461	0.0031	0.0235	0	0	0.0096	0.0006	0.0058	0.0005	0.0131	0.0130	0.0134	0.0127	0.0420	0.0126	0.0124	0.0404	0.0397	0.0420	0	0.0053	0.0253	0	0	0.0274	0.0006	0.0090	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	993.43	38	chr13	23375106	.	G	A	993.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.97;DP=403;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=1.79;SOR=0.752	GT:AD:DP:GQ:PL	0/1:48,42:90:99:1005,0,1002	9	0	1	0
chr13	100368479	100368479	G	T	exonic	PCCA	.	nonsynonymous SNV	PCCA:NM_001352608:exon17:c.G1429T:p.V477F,PCCA:NM_001352612:exon17:c.G562T:p.V188F,PCCA:NM_001127692:exon18:c.G1573T:p.V525F,PCCA:NM_001352606:exon18:c.G1507T:p.V503F,PCCA:NM_001352607:exon18:c.G1573T:p.V525F,PCCA:NM_001352610:exon18:c.G706T:p.V236F,PCCA:NM_001352611:exon18:c.G706T:p.V236F,PCCA:NM_000282:exon19:c.G1651T:p.V551F,PCCA:NM_001178004:exon19:c.G1651T:p.V551F,PCCA:NM_001352605:exon19:c.G1651T:p.V551F,PCCA:NM_001352609:exon19:c.G1651T:p.V551F	Propionicacidemia, Autosomal recessive	35	1422	60	5	0	70	0.024022	.	.	.	47470	Propionic_acidemia|not_provided|not_specified	Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0061	0.00279553	0.0077	0.0020	0.0058	0.0001	0.0020	0.0106	0.0099	0.0070	0.007846	1213	154602	rs61749895	0.0088	0.0091	0.0087	0.0090	0.0362	0.0087	0.0086	0.0322	0.0306	0.0020	0.0081	0.0100	0	0.0027	0.0362	0.0096	0.0098	0.0068	0.0070	0.0070	0.0066	0.0074	0.0128	0.0066	0.0065	0.0113	0.0107	0.0019	0	0.0128	0.0110	0	0.0023	0.0411	0.0096	0.0157	0.0054	0.51	0.50676	T	0.706	0.54541	T	0.072	0.23997	B	0.059	0.26602	B	0.000666	0.42516	D	0.092028	0.999897	0.19781	N	1.245	0.31408	L	-1.19	0.78427	T	-1.24	0.41428	N	0.253	0.29313	-0.9538	0.40310	T	0.166	0.50486	T	10	0.0050973594	0.00110	T	.	.	.	0.495	0.78036	.	.	0.237489013734	0.23353	0.5414792096076211	0.54072	0.18749610879	0.21068	0.274469137192	0.06733	T	0.405477	0.76164	T	-0.220797	0.17884	T	-0.0795484	0.64938	T	0.002613999720297	0.00027	T	0.686231	0.31753	T	0.10194706	0.24085	0.08496319	0.19583	0.09695565	0.22845	0.07956249	0.17920	-3.107	0.13455	T	0.09290950936720156	0.06056	0.096	0.15385	B	.;.;.;.	.;.;.;.	0.493760	0.08630	5.399	0.58896346874019345	0.06098	0.25735	0.22787	N	AEFGBI	0.246318	0.36709	N	-1.39697904296976	0.02667	0.1180743	-1.37944493398146	0.03472	0.1620144	0.93334498371539	0.27125	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	-1.81	0.07456	-0.163000	0.09986	-0.136000	0.11567	-0.678000	0.04252	0.706000	0.28683	0.000000	0.08366	0.310000	0.24737	0.2295:0.0:0.7705:0.0	13.543	0.61143	892	0.26670	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023162	0.015152	0.031250	0.035088	0.050000	0.008621	0.015244	0.007576	0.1	933.14	39	chr13	100368479	.	G	T	933.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.882;DP=382;ExcessHet=0.2348;FS=1.717;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.061;SOR=0.501	GT:AD:DP:GQ:PL	0/1:28,27:55:99:584,0,660	8	0	2	0
chr14	23389063	23389063	G	-	intronic	MYH6	.	.	.	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	.	.	.	.	.	.	.	.	.	.	45290	Hypertrophic_cardiomyopathy_2|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy_14|Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|MedGen:CN239310|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4104	0.6267	0.3795	0.4432	0.3604	0.3688	0.3815	0.4476	0.0001537	4	26028	rs1064795889	0.3084	0.3121	0.3093	0.3074	0.6162	0.3074	0.3071	0.6088	0.6057	0.6162	0.2497	0.2666	0.2601	0.2543	0.3139	0.2981	0.3229	0.3503	0.3533	0.3351	0.3610	0.3452	0.6120	0.3504	0.3492	0.6055	0.6028	0.6120	0.3180	0.2356	0.2344	0.1573	0.1787	0.2645	0.2170	0.3369	0.3167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6678.09	46	chr14	23389062	.	AG	A	6678.09	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.58;DP=541;ExcessHet=5.1594;FS=1.829;InbreedingCoeff=-0.4141;MLEAC=5;MLEAF=0.25;MQ=59.99;MQRankSum=0;QD=16.17;ReadPosRankSum=0.843;SOR=0.573	GT:AD:DP:GQ:PL	0/1:23,44:67:99:1060,0,450	5	0	5	0
chr14	45189246	45189246	A	G	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon19:c.A5146G:p.I1716V,FANCM:NM_020937:exon20:c.A5224G:p.I1742V	.	0	1478	43	1	0	45	0.014995	.	.	.	241842	not_provided|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|Spermatogenic_failure_28|not_specified	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	.	0.0107	0.00379393	0.0084	0.0025	0.0046	0	0.0068	0.0124	0.0154	0.0033	0.0085445	1321	154602	rs143662421	0.0110	0.0110	0.0110	0.0109	0.0156	0.0108	0.0108	0.0130	0.0122	0.0021	0.0066	0.0221	0	0.0062	0.0156	0.0124	0.0102	0.0030	0.0081	0.0081	0.0081	0.0082	0.0123	0.0078	0.0076	0.0116	0.0114	0.0021	0.0011	0.0075	0.0196	0	0.0083	0	0.0123	0.0128	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.003992	0.00997	N	2.866430	1	0.08975	N	-1.445	0.00556	N	-1.04	0.76561	T	-0.02	0.07299	N	0.015	0.02759	-1.0016	0.29459	T	0.012	0.04747	T	10	0.002847463	0.00045	T	.	.	.	0.104	0.29647	.	.	0.387689773709	0.38380	0.16266016780335998	0.16186	0.0709891166368	0.07957	0.213881358504	0.00987	T	0.042364	0.26159	T	-0.579935	0.00193	T	-0.593489	0.13365	T	0.000540782962682599	0.00005	T	0.535446	0.18256	T	0.017791519	0.00303	0.019717433	0.00101	0.015336468	0.00134	0.019717433	0.00101	-3.057	0.10809	T	.	.	0.061	0.03588	B	.;.;.	.;.;.	-0.965696	0.00821	0.028	0.21707546184443752	0.00840	0.00289	0.01551	N	AEFBI	0.017613	0.00474	N	-1.1622995366987	0.05580	0.2547613	-1.22811695106787	0.05462	0.2603458	0.227148894049014	0.18423	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.26	-2.26	0.06478	-0.432000	0.07026	-2.425000	0.03770	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.802000	0.37819	0.2872:0.1195:0.4341:0.1592	1.410	0.02152	840	0.37365	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.035354	0.016304	0.005848	0.050000	0.000000	0.018293	0.000000	0.05	918.43	43	chr14	45189246	.	A	G	918.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=397;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.224;SOR=0.55	GT:AD:DP:GQ:PL	0/1:36,35:71:99:930,0,894	9	0	1	0
chr14	65102446	65102449	CACT	-	UTR5	MAX	NM_001271069:c.-107_-110delAGTG;NM_197957:c.-107_-110delAGTG;NM_001320415:c.-24513_-24516delAGTG;NM_002382:c.-107_-110delAGTG;NM_145112:c.-107_-110delAGTG;NM_145113:c.-107_-110delAGTG;NM_001271068:c.-107_-110delAGTG;NM_145114:c.-107_-110delAGTG	.	.	.	518	992	9	3	0	15	0.00750375	.	.	.	321008	Pheochromocytoma|not_provided	Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00399361	.	.	.	.	.	.	.	.	0.001191	31	26028	rs556734672	0.0113	0.0114	0.0115	0.0111	0.0126	0.0111	0.0111	0.0124	0.0123	0.0042	0.0083	0.0102	0.0017	0.0118	0.0090	0.0126	0.0097	0.0034	0.0090	0.0090	0.0098	0.0081	0.0127	0.0086	0.0084	0.0120	0.0117	0.0034	0	0.0103	0.0107	0.0025	0.0115	0.0034	0.0127	0.0104	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	140.39	17	chr14	65102445	.	ACACT	A	140.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.566;DP=208;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.06;ReadPosRankSum=0;SOR=0.941	GT:AD:DP:GQ:PL	0/1:3,4:7:99:152,0,114	9	0	1	0
chr14	91339271	91339271	G	A	intronic	CCDC88C	.	.	.	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	1	1514	6	1	0	8	0.00263505	0.0002	0.066	.	744834	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0004	0	0.0004	0	0	4.773e-05	0.0025	0.0024	0.0003363	52	154602	rs575390201	0.0002	0.0002	0.0001	0.0003	0.0022	0.0002	0.0002	0.0020	0.0019	2.992e-05	0.0003	0.0005	0	0	0.0020	5.037e-05	0.0003	0.0022	0.0001	0.0001	5.138e-05	0.0002	0.0023	6.504e-05	5.317e-05	0.0013	0.0010	0	0	0.0002	0	0	0	0	2.939e-05	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3382.43	33	chr14	91339271	.	G	A	3382.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.175;DP=688;ExcessHet=0;FS=0.794;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=0.146;SOR=0.643	GT:AD:DP:GQ:PL	0/1:206,158:364:99:3394,0,4874	9	0	1	0
chr14	92071009	92071009	-	G	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.68_69insC:p.P25Tfs*24,ATXN3:NM_001164774:exon3:c.233_234insC:p.P80Tfs*24,ATXN3:NM_001164777:exon3:c.113_114insC:p.P40Tfs*24,ATXN3:NM_001164776:exon4:c.278_279insC:p.P95Tfs*24,ATXN3:NM_001164778:exon6:c.431_432insC:p.P146Tfs*24,ATXN3:NM_001164779:exon6:c.553_554insC:p.G185Afs*12,ATXN3:NM_001164780:exon7:c.379_380insC:p.G127Afs*12,ATXN3:NM_001127697:exon8:c.763_764insC:p.G255Afs*12,ATXN3:NM_001164781:exon8:c.706_707insC:p.G236Afs*12,ATXN3:NM_001127696:exon9:c.871_872insC:p.G291Afs*12,ATXN3:NM_030660:exon9:c.751_752insC:p.G251Afs*12,ATXN3:NM_004993:exon10:c.916_917insC:p.G306Afs*12	Machado-Joseph disease, Autosomal dominant	98	926	380	118	0	616	0.249595	.	.	.	390136	ATXN3-related_disorder|Azorean_disease|not_specified|not_provided	.|MONDO:MONDO:0007182,MedGen:C0024408,OMIM:109150,Orphanet:98757|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3624	0.1685	0.3080	0.2350	0.3289	0.3820	0.3723	0.5076	0.0120639	314	26028	rs763461489	0.3602	0.2726	0.3598	0.3606	0.4269	0.3591	0.3586	0.4211	0.4187	0.2335	0.2356	0.4259	0.4269	0.3289	0.3968	0.3614	0.3556	0.3795	0.4786	0.4687	0.4802	0.4770	0.5397	0.4742	0.4724	0.5165	0.5072	0.4754	0.5068	0.4371	0.5341	0.4620	0.4534	0.4936	0.4840	0.4802	0.5397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	11893.0	62	chr14	92071009	.	C	CG	11893.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.81;DP=780;ExcessHet=5.1594;FS=0.555;InbreedingCoeff=-0.4155;MLEAC=9;MLEAF=0.45;MQ=59.49;MQRankSum=-1.283;QD=19.46;ReadPosRankSum=-0.33;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,82:84:99:.:.:3156,254,0:.	2	1	7	0
chr14	95115562	95115562	G	A	intronic	DICER1	.	.	.	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	23	1096	320	83	0	486	0.181479	.	.	.	505595	not_provided|DICER1-related_tumor_predisposition|not_specified	MedGen:C3661900|MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.165735	.	.	.	.	.	.	.	.	0.0356852	5517	154602	rs2275182	0.1908	0.1888	0.1943	0.1875	0.3161	0.1901	0.1899	0.3105	0.3082	0.3161	0.1109	0.2679	0.0414	0.1976	0.2523	0.2055	0.1914	0.0828	0.2199	0.2200	0.2255	0.2140	0.3112	0.2179	0.2171	0.3067	0.3049	0.3112	0.2314	0.1592	0.2689	0.0394	0.1958	0.2891	0.2018	0.2343	0.0806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1569.96	11	chr14	95115562	.	G	A	1569.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.084;DP=129;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.2501;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=-0.652;SOR=0.565	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,4:7:99:.:.:112,0,105:.	3	1	6	0
chr14	104689739	104689739	G	A	UTR5	INF2	NM_032714:c.-11627G>A;NM_001031714:c.-11627G>A;NM_022489:c.-11627G>A	.	.	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	1130	359	21	12	0	45	0.0589777	0.7393	0.666	.	328746	not_specified|Charcot-Marie-Tooth_disease_dominant_intermediate_E|Focal_segmental_glomerulosclerosis_5	MedGen:CN169374|MONDO:MONDO:0013758,MedGen:C4302667,OMIM:614455,Orphanet:93114|MONDO:MONDO:0013191,MedGen:C2750475,OMIM:613237,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0467252	.	.	.	.	.	.	.	.	0.0651606	1696	26028	rs115602636	0.0773	0.0456	0.0764	0.0782	0.0964	0.0768	0.0766	0.0841	0.0820	0.0139	0.0467	0.1050	0.0129	0.0647	0.0964	0.0784	0.0783	0.0873	0.0587	0.0588	0.0601	0.0572	0.0844	0.0577	0.0573	0.0818	0.0811	0.0179	0.0702	0.0597	0.1066	0.0134	0.0468	0.1069	0.0837	0.0706	0.0844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	35.16	5	chr14	104689739	.	G	A	35.16	.	AC=2;AF=0.143;AN=14;DP=27;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=17.58;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	3
chr14	104707526	104707531	CCCCAC	-	exonic	INF2	.	nonframeshift deletion	INF2:NM_001031714:exon8:c.1259_1264del:p.P427_P428del,INF2:NM_022489:exon8:c.1259_1264del:p.P427_P428del	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	.	.	.	.	.	.	.	.	.	335402	Focal_segmental_glomerulosclerosis|not_provided|not_specified	Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0210	.	0.0865	0.0332	0.0538	0.0084	0	0.0878	0.1077	0.0921	0.0013063	34	26028	rs775646511	0.0829	0.0766	0.0815	0.0844	0.1200	0.0825	0.0823	0.1107	0.1070	0.0659	0.0562	0.1174	0.0148	0.0608	0.1200	0.0856	0.0913	0.0790	0.0600	0.0698	0.0625	0.0573	0.0723	0.0589	0.0584	0.0705	0.0697	0.0477	0.0566	0.0530	0.1011	0.0083	0.0377	0.0756	0.0723	0.0676	0.0603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5184.34	60	chr14	104707525	.	ACCCCAC	A	5184.34	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.089;DP=570;ExcessHet=0.6204;FS=3.221;InbreedingCoeff=0.0476;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=33.15;ReadPosRankSum=2.72;SOR=0.269	GT:AD:DP:GQ:PL	1/1:0,9:9:30:403,30,0	9	1	0	0
chr15	40622532	40622532	A	G	exonic	KNL1	.	synonymous SNV	KNL1:NM_144508:exon10:c.A2268G:p.S756S,KNL1:NM_170589:exon11:c.A2346G:p.S782S	Microcephaly 4, primary, autosomal recessive, Autosomal recessive	0	1489	32	1	0	34	0.0112882	.	.	.	208181	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	0.00319489	0.0038	0.0004	0.0017	0	0.0002	0.0013	0.0045	0.0210	0.0032729	506	154602	rs202012571	0.0022	0.0022	0.0015	0.0029	0.0210	0.0021	0.0021	0.0202	0.0199	0.0002	0.0017	0.0036	0	5.618e-05	0.0069	0.0009	0.0027	0.0210	0.0014	0.0014	0.0012	0.0017	0.0215	0.0013	0.0012	0.0182	0.0169	0.0002	0	0.0012	0.0052	0	9.413e-05	0.0102	0.0009	0.0005	0.0215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.002717	0.008824	0.000000	0.000000	0.003049	0.018939	0.1	3631.14	100	chr15	40622532	.	A	G	3631.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.782;DP=1059;ExcessHet=0.2348;FS=1.362;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.32;SOR=0.783	GT:AD:DP:GQ:PL	0/1:65,77:142:99:1879,0,1635	8	0	2	0
chr15	43600609	43600609	G	A	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon26:c.C4918T:p.L1640F	Deafness, autosomal recessive 16, Autosomal recessive	2	1497	23	0	0	23	0.00762347	.	.	YES	404821	Autosomal_recessive_nonsyndromic_hearing_loss_16|STRC-related_disorder|not_provided	MONDO:MONDO:0011364,MedGen:C1863561,OMIM:603720,Orphanet:90636|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.300	0.808498870046	.	0.000798722	0.0011	0.0003	0.0014	0	0	0.0017	0	0.0001	0.0009638	149	154602	rs2920791	0.0018	0.0040	0.0019	0.0018	0.0022	0.0018	0.0018	0.0021	0.0021	0.0003	0.0021	0	5.039e-05	0.0001	0.0003	0.0022	0.0017	0.0007	0.0017	0.0032	0.0020	0.0015	0.0034	0.0016	0.0015	0.0024	0.0023	0.0006	0.0033	0.0019	0	0.0002	9.457e-05	0	0.0027	0.0024	0.0034	0.079	0.33753	T	0.0	0.92824	D	0.946	0.53363	P	0.838	0.60045	P	0.004362	0.33816	N	0.117372	1	0.81001	D	.	.	.	-1.26	0.79176	T	-1.11	0.28703	N	0.299	0.38746	-0.0907	0.80312	T	0.479	0.80068	T	9	0.08820775	0.15166	T	0.808499	0.98506	D	0.300	0.62068	.	.	0.76847438456	0.76635	0.49283764366253	0.49204	.	.	0.574232280254	0.49274	T	0.187283	0.54084	T	-0.330416	0.06081	T	-0.25418	0.49404	T	0.0681458239434558	0.08389	T	0.610839	0.23175	T	0.06872743	0.14997	0.10154782	0.24314	0.0781299	0.17774	0.11947969	0.28838	-10.218	0.75206	D	0.7662668044665778	0.84763	0.625	0.69922	P	.;.	.;.	4.458066	0.69356	25.4	0.99831891262176153	0.91370	0.60594	0.31240	D	AEFBI	0.303605	0.41153	N	0.349410031656867	0.58709	4.044819	0.361867551766475	0.59225	4.098651	0.00106907004878462	0.08183	0.553676	0.25195	0	0.588015	0.36545	0	0.670488	0.60580	0	0.530356	0.10902	0	.	.	4.75	4.75	0.59954	2.790000	0.47512	11.787000	0.96267	-0.830000	0.02882	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.0:0.0:1.0:0.0	13.428	0.60486	10	0.99061	.;.	.	.	.	.	.	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	0.003049	0.000000	0.05	365.43	33	chr15	43600609	.	G	A	365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.21;DP=658;ExcessHet=0;FS=9.674;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.3;MQRankSum=-8.943;QD=3.21;ReadPosRankSum=-3.024;SOR=1.911	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,16:114:99:0|1:43600609_G_A:377,0,4067:43600609	9	0	1	0
chr15	43600624	43600624	C	A	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon26:c.G4903T:p.V1635F	Deafness, autosomal recessive 16, Autosomal recessive	2	1494	26	0	0	26	0.00862641	.	.	.	230563	not_specified|STRC-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.310	0.68426316111	0.0002	.	0.0011	0.0004	0.0003	0	0.0005	0.0009	0	0.0041	0.0011061	171	154602	rs2915791	0.0003	0.0035	0.0002	0.0003	0.0011	0.0002	0.0002	0.0010	0.0009	0.0003	4.478e-05	0.0001	0	0	0.0004	0.0002	0.0003	0.0011	0.0008	0.0022	0.0009	0.0007	0.0051	0.0007	0.0006	0.0035	0.0030	0.0006	0.0022	0.0002	0	0	0	0	0.0010	0.0009	0.0051	0.11	0.29158	T	0.023	0.57104	D	0.573	0.60036	P	0.165	0.57283	B	0.721024	0.09934	N	0.836584	1	0.81001	D	.	.	.	-1.05	0.76690	T	-0.58	0.17624	N	0.519	0.54932	-0.2102	0.77409	T	0.478	0.80002	T	9	0.11853805	0.22412	T	0.684263	0.97389	D	0.310	0.63162	.	.	0.753645140278	0.75141	0.6565447405899285	0.65590	.	.	0.43855664134	0.30380	T	0.064201	0.32372	T	0.0143853	0.53622	T	-0.217113	0.53014	T	0.281153917312622	0.24220	T	0.590441	0.21717	T	0.11808676	0.27828	0.096214235	0.22852	0.12998167	0.30342	0.11341362	0.27371	-8.815	0.66499	D	0.3956736979913532	0.48823	0.160	0.35288	B	.;.	.;.	3.234298	0.44118	21.9	0.98070163054786075	0.38023	0.85159	0.44268	D	AEFBI	0.398309	0.47404	N	0.105459158857106	0.46716	2.90786	0.133687704735429	0.46282	2.876808	0.00735261414150442	0.11446	0.553676	0.25195	0	0.588015	0.36545	0	0.54472	0.12158	0	0.530356	0.10902	0	.	.	4.75	3.83	0.43287	1.209000	0.31963	2.767000	0.34644	0.547000	0.25779	0.998000	0.41325	0.990000	0.31317	0.984000	0.60418	0.0:0.8996:0.0:0.1004	9.045	0.35505	10	0.99061	.;.	.	.	.	.	.	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	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	337.43	33	chr15	43600624	.	C	A	337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=663;ExcessHet=0;FS=2.288;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.61;MQRankSum=-8.524;QD=2.93;ReadPosRankSum=-0.482;SOR=1.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,16:115:99:0|1:43600609_G_A:349,0,4094:43600609	9	0	1	0
chr15	45095821	45095821	C	T	intronic	DUOX2	.	.	.	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1513	9	0	0	9	0.0029654	0.0001	0	.	778245	Thyroid_dyshormonogenesis_6|not_provided	MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0068	0.00798722	0.0024	0.0230	0.0014	0.0002	0	0.0004	0.0023	0	0.0021863	338	154602	rs115310278	0.0009	0.0009	0.0010	0.0008	0.0232	0.0009	0.0008	0.0219	0.0213	0.0232	0.0017	0	0.0001	1.88e-05	0.0035	0.0003	0.0020	0.0001	0.0070	0.0070	0.0066	0.0074	0.0225	0.0066	0.0065	0.0213	0.0208	0.0225	0	0.0057	0.0003	0	9.414e-05	0.0102	0.0004	0.0061	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	2438.14	49	chr15	45095821	.	C	T	2438.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.374;DP=477;ExcessHet=0.2348;FS=2.373;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=1.33;SOR=0.504	GT:AD:DP:GQ:PL	0/1:28,46:74:99:1344,0,771	8	0	2	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	1/1:1,138:139:99:3713,405,0	0	10	0	0
chr15	68207979	68207979	-	AC	UTR3	CLN6	NM_017882:c.*160_*161insGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	323238	not_provided|Neuronal_Ceroid-Lipofuscinosis,_Recessive	MedGen:C3661900|MedGen:CN239323	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.334465	.	.	.	.	.	.	.	.	0.0030352	79	26028	rs138882836	0.3617	0.3201	0.3572	0.3657	0.5137	0.3603	0.3597	0.5067	0.5038	0.1449	0.3834	0.3623	0.5137	0.3802	0.3685	0.3407	0.3479	0.4469	0.3749	0.3760	0.3645	0.3859	0.7752	0.3723	0.3712	0.7549	0.7466	0.1625	0.5408	0.4370	0.4553	0.7752	0.4773	0.4041	0.4204	0.3920	0.6213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1399.84	5	chr15	68207979	.	G	GAC	1399.84	.	AC=7;AF=0.5;AN=14;DP=56;ExcessHet=0;FS=0;InbreedingCoeff=0.6493;MLEAC=9;MLEAF=0.643;MQ=60;QD=28.43;SOR=1.552	GT:AD:DP:GQ:PL	1/0:0,2:5:70:188,123,117	2	2	3	3
chr15	68207980	68207983	ACAC	-	UTR3	CLN6	NM_017882:c.*160_*157delGTGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	205	10	0	6	5	17	0.375	.	.	.	341232	Neuronal_Ceroid-Lipofuscinosis,_Recessive|not_provided	MedGen:CN239323|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs141886537	0.4732	0.4569	0.4793	0.4678	0.5300	0.4716	0.4709	0.5278	0.5268	0.3809	0.4432	0.4817	0.1587	0.4999	0.4595	0.5300	0.4818	0.3368	0.4804	0.4792	0.4870	0.4734	0.5565	0.4774	0.4762	0.5518	0.5498	0.3924	0.4592	0.4948	0.4910	0.1749	0.5171	0.5274	0.5565	0.4919	0.3444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1399.84	5	chr15	68207979	.	GACAC	G	1399.84	.	AC=3;AF=0.214;AN=14;DP=56;ExcessHet=0;FS=0;InbreedingCoeff=0.6493;MLEAC=4;MLEAF=0.286;MQ=60;QD=28.43;SOR=1.552	GT:AD:DP:GQ:PL	0/1:0,3:5:70:188,70,117	4	0	3	3
chr15	74890083	74890083	C	T	exonic	MPI	.	nonsynonymous SNV	MPI:NM_001289155:exon1:c.C10T:p.P4S,MPI:NM_001289157:exon1:c.C10T:p.P4S,MPI:NM_002435:exon1:c.C10T:p.P4S	Congenital disorder of glycosylation, type Ib, Autosomal recessive	2	1473	44	3	0	50	0.0166889	.	.	.	267163	not_specified|MPI-congenital_disorder_of_glycosylation|not_provided|MPI-related_disorder	MedGen:CN169374|MONDO:MONDO:0011257,MedGen:C1865145,OMIM:602579,Orphanet:79319|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.395	0.101364905895	0.0013	0.000798722	0.0017	0.0003	0.0034	0	0	0.0020	0.0071	0.0013	0.0015459	239	154602	rs143982014	0.0014	0.0014	0.0013	0.0015	0.0235	0.0014	0.0013	0.0202	0.0190	0.0007	0.0033	0.0112	2.519e-05	0	0.0235	0.0011	0.0030	0.0012	0.0014	0.0014	0.0015	0.0013	0.0031	0.0012	0.0012	0.0024	0.0022	0.0004	0	0.0031	0.0130	0	0	0.0238	0.0012	0.0066	0.0006	0.337	0.31987	T	0.692	0.34241	T	0.002	0.11197	B	0.002	0.11217	B	0.728648	0.06356	N	1.128990	1	0.20412	N	0.995	0.25082	L	-4.08	0.96594	D	0.21	0.08033	N	0.165	0.29889	0.098	0.84141	D	0.791	0.92899	D	10	0.00872612	0.00198	T	0.101365	0.77421	D	0.395	0.71004	.	.	0.746948417672	0.74466	0.24313440256969707	0.24227	0.189476331791	0.21270	0.363826721907	0.19941	T	0.325986	0.69665	T	-0.180452	0.23669	T	-0.0340886	0.68097	D	0.00599573156288727	0.00066	T	0.859214	0.63097	D	0.029457944	0.02445	0.050822712	0.08053	0.026288811	0.01666	0.054601777	0.09421	-3.593	0.18379	T	.	.	0.115	0.23077	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.625673	0.20758	14.90	0.71600662564173023	0.09684	0.14769	0.18576	N	ALL	0.118988	0.23244	N	-0.784616274754612	0.13710	0.6773794	-0.837605732487111	0.13586	0.7055841	0.99999999999726	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.08	1.99	0.25423	1.175000	0.31553	1.167000	0.24596	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.2111:0.5844:0.2045:0.0	6.414	0.20910	285	0.88719	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.020202	0.025510	0.023098	0.035294	0.000000	0.025862	0.009202	0.000000	0.05	2214.43	36	chr15	74890083	.	C	T	2214.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=504;ExcessHet=0;FS=2.563;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=1.39;SOR=0.903	GT:AD:DP:GQ:PL	0/1:96,90:186:99:2226,0,2220	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	1/1:0,2:2:6:70,6,0	4	1	1	4
chr16	2099895	2099895	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon29:c.G9889A:p.V3297M,PKD1:NM_001009944:exon29:c.G9889A:p.V3297M	Polycystic kidney disease, adult type I, Autosomal dominant	57	1457	6	2	0	10	0.00341997	.	.	YES	793585	PKD1-related_disorder|not_provided|not_specified|Polycystic_kidney_disease,_adult_type	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.722	0.724504472928	.	.	0.0002	0	0	0	0	0.0001	0	0.0004	6.47e-05	10	154602	rs775497330	0.0001	0.0001	0.0001	0.0001	0.0020	0.0001	0.0001	0.0010	0.0007	3.088e-05	0.0002	0	0	2.036e-05	0.0020	6.521e-05	0.0006	0.0007	9.197e-05	9.193e-05	2.569e-05	0.0002	0.0002	5.527e-05	4.364e-05	2.846e-05	1.858e-05	7.236e-05	0	0.0001	0.0003	0	0	0	7.35e-05	0.0010	0.0002	0.011	0.55530	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.97372	D	0.000312	0.45977	D	0.143609	0.996838	0.43448	D	0.835	0.21042	L	1.93	0.22881	T	0.24	0.04776	N	0.729	0.73015	-1.0504	0.14285	T	0.086	0.33298	T	10	0.74334395	0.75113	D	0.724504	0.97776	D	0.722	0.90191	0.467	0.53891	0.629626237659	0.62660	0.3905479971090743	0.38969	.	.	0.465557068586	0.34072	T	0.146281	0.48380	T	-0.32309	0.06648	T	-0.343292	0.39971	T	0.0597434812006019	0.07128	T	0.820318	0.47908	T	0.05384064	0.10247	0.06562255	0.13325	0.057556137	0.11469	0.062111028	0.12100	-4.072	0.24876	T	0.12194889120446728	0.11630	0.130	0.28027	B	.;.	.;.	2.925661	0.38855	20.8	0.99374468446223174	0.61585	0.87419	0.46953	D	AEFBI	0.321792	0.42448	N	0.148902148646418	0.48761	3.084368	0.131516588069759	0.46169	2.867399	0.0423775091082877	0.14524	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	1.838000	0.38851	0.503000	0.19012	-0.183000	0.09960	0.929000	0.32243	0.059000	0.21998	0.005000	0.06747	0.0:1.0:0.0:0.0	17.809	0.88520	740	0.53092	.;.	.	.	.	.	.	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	0.004566	0.000000	0.004132	0.000000	0.000000	0.000000	0.003546	0.016260	0.05	1262.43	33	chr16	2099895	.	C	T	1262.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.699;DP=428;ExcessHet=0;FS=1.506;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.49;MQRankSum=-0.801;QD=11.07;ReadPosRankSum=2.59;SOR=0.523	GT:AD:DP:GQ:PL	0/1:60,54:114:99:1274,0,1568	9	0	1	0
chr16	3254626	3254626	C	G	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon2:c.G442C:p.E148Q	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	2	1242	263	15	0	293	0.10551	.	.	YES	17581	Inborn_genetic_diseases|Familial_Mediterranean_fever,_autosomal_dominant|See_cases|Familial_Mediterranean_fever|not_specified|MEFV-related_disorder|not_provided|Acute_febrile_neutrophilic_dermatosis|Systemic_lupus_erythematosus|Autoinflammatory_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|.|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	.	0.0112	0.126398	0.0900	0.0184	0.0217	0.3150	0.0013	0.0197	0.0716	0.3018	0.0641648	9920	154602	rs3743930	0.0377	0.0376	0.0305	0.0450	0.2802	0.0374	0.0373	0.2772	0.2760	0.0171	0.0133	0.0539	0.2546	0.0019	0.0650	0.0131	0.0511	0.2802	0.0329	0.0330	0.0280	0.0380	0.2988	0.0321	0.0318	0.2860	0.2808	0.0159	0	0.0191	0.0582	0.2795	0.0018	0.0714	0.0127	0.0317	0.2988	0.007	0.59928	D	0.011	0.64786	D	0.995	0.67487	D	0.851	0.60700	P	0.003372	0.35041	N	0.131490	1	0.27475	P	1.83	0.48079	L	-1.07	0.76948	T	-1.3	0.32590	N	0.125	0.11769	-1.1028	0.03768	T	0.000	0.00039	T	9	0.0055573583	0.00123	T	.	.	.	0.274	0.59007	.	.	.	.	0.514001947169189	0.51322	0.534422499708	0.50847	0.454673349857	0.32582	T	0.400125	0.75778	T	-0.397484	0.02405	T	-0.199914	0.54654	T	0.0123424584187742	0.00201	T	0.79572	0.43862	T	0.1393041	0.32184	0.087836124	0.20442	0.12762725	0.29860	0.088540226	0.20650	-4.015	0.24027	T	.	.	0.132	0.28607	B	.	.	2.968483	0.39555	21.0	0.99364470562835017	0.61155	0.13031	0.17624	N	AEFDBI	0.123919	0.23974	N	-0.142306821722336	0.35564	2.044299	-0.309833529502108	0.27781	1.543952	0.999995932073785	0.74766	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.39	3.44	0.38486	0.734000	0.25769	.	.	0.599000	0.40250	0.027000	0.20232	0.930000	0.28522	0.049000	0.15107	0.0:0.898:0.0:0.102	8.711	0.33543	779	0.47767	.	.	.	.	.	.	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	0.081149	0.051546	0.061141	0.073099	0.050000	0.068966	0.060976	0.178030	0.15	1817.45	50	chr16	3254626	.	C	G	1817.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.168;DP=363;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.059;SOR=0.639	GT:AD:DP:GQ:PL	0/1:13,20:33:99:502,0,272	7	0	3	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	0/1:9,4:13:60:60,0,159	0	0	10	0
chr16	27403181	27403181	G	A	exonic	IL21R	.	nonsynonymous SNV	IL21R:NM_181079:exon2:c.G11A:p.R4H	Immunodeficiency, primary, autosomal recessive, IL21R-related, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	614421	not_provided|IgE_responsiveness,_atopic|Cryptosporidiosis-chronic_cholangitis-liver_disease_syndrome	MedGen:C3661900|MONDO:MONDO:0007817,MedGen:C1840253,OMIM:147050|MONDO:MONDO:0014082,MedGen:C3554687,OMIM:615207,Orphanet:357329	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0041	0.0035	0	0	0	0.0080	0.0231	0.0021	0.0021474	332	154602	rs117535117	0.0108	0.0090	0.0112	0.0105	0.0124	0.0107	0.0106	0.0122	0.0121	0.0054	0.0079	0.0047	9.163e-05	0.0037	0.0048	0.0124	0.0093	0.0018	0.0086	0.0086	0.0089	0.0083	0.0150	0.0082	0.0081	0.0134	0.0128	0.0057	0.0274	0.0150	0.0046	0	0.0024	0.0102	0.0111	0.0057	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.002353	0.000000	0.000000	0.000000	0.000000	0.000000	0.005747	0.010204	0.05	1208.43	38	chr16	27403181	.	G	A	1208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.429;DP=479;ExcessHet=0;FS=2.396;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.507;SOR=0.928	GT:AD:DP:GQ:PL	0/1:61,54:115:99:1220,0,1375	9	0	1	0
chr16	50699481	50699481	T	A	UTR5	NOD2	NM_001293557:c.-15T>A	.	.	Blau syndrome, Autosomal dominant	1	1497	23	1	0	25	0.00828089	0.0030	0.186	.	103772	Blau_syndrome|Regional_enteritis|Autoinflammatory_syndrome|not_specified|not_provided|Inflammatory_bowel_disease_1	MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0013	0.000599042	0.0018	0.0003	0.0021	0	0.0002	0.0026	0.0022	0.0004	0.0015977	247	154602	rs104895421	0.0014	0.0015	0.0014	0.0015	0.0177	0.0014	0.0014	0.0146	0.0135	0.0014	0.0029	0.0274	2.519e-05	5.624e-05	0.0177	0.0008	0.0034	0.0003	0.0014	0.0014	0.0015	0.0014	0.0025	0.0013	0.0012	0.0019	0.0016	0.0002	0	0.0025	0.0248	0	0	0.0068	0.0011	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	1362.43	73	chr16	50699481	.	T	A	1362.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.299;DP=623;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=0.548;SOR=0.706	GT:AD:DP:GQ:PL	0/1:102,65:167:99:1374,0,2453	9	0	1	0
chr16	56511263	56511263	T	C	exonic	BBS2	.	nonsynonymous SNV	BBS2:NM_001377456:exon3:c.A367G:p.I123V,BBS2:NM_031885:exon3:c.A367G:p.I123V	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive	7	1085	379	51	0	481	0.181441	.	.	YES	255825	Bardet-Biedl_syndrome|not_specified|Retinitis_pigmentosa_74|Bardet-Biedl_syndrome_1|not_provided|Bardet-Biedl_syndrome_2|Retinal_dystrophy	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MONDO:MONDO:0014692,MedGen:C4225281,OMIM:616562,Orphanet:791|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:C3661900|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.169	.	0.1954	0.263578	0.2092	0.2292	0.3062	0.4101	0.1777	0.1703	0.2080	0.1939	0.205702	31802	154602	rs11373	0.1869	0.1869	0.1878	0.1860	0.4109	0.1863	0.1861	0.4056	0.4034	0.2297	0.2862	0.2119	0.4109	0.1735	0.1505	0.1732	0.1982	0.1882	0.2072	0.2074	0.2067	0.2076	0.4000	0.2052	0.2045	0.3857	0.3798	0.2319	0.1020	0.2418	0.2044	0.4000	0.1837	0.1361	0.1761	0.2111	0.1922	0.562	0.06341	T	0.544	0.11829	T	.	.	.	.	.	.	0.006774	0.31811	N	0.376395	0.726341	0.29873	P	.	.	.	-1.58	0.81987	D	-0.24	0.11008	N	0.056	0.06454	-1.0141	0.25625	T	0.000	0.00011	T	9	0.0039009154	0.00074	T	.	.	.	0.169	0.43123	.	.	.	.	0.40657062324920235	0.40573	0.20816477634	0.23283	0.361940145493	0.19669	T	0.222663	0.58657	T	-0.576094	0.00204	T	-0.456476	0.26983	T	0.00215051843252122	0.00022	T	0.759724	0.38410	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00647	B	.;.	.;.	0.874631	0.12478	9.008	0.60179440470861367	0.06401	0.81298	0.40731	D	AEFBI	0.120463	0.23466	N	-0.808476354663507	0.13093	0.6426372	-0.64647875390651	0.18306	0.9772973	0.744928693620984	0.23270	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.9	0.542	0.16365	0.398000	0.20624	-0.822000	0.07291	0.654000	0.53741	0.997000	0.40164	0.001000	0.17328	0.854000	0.40426	0.0:0.3239:0.1315:0.5446	5.865	0.18019	453	0.79178	Ciliary BBSome complex subunit 2, N-terminal;.	OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT1E|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT4|OGFOD1|AMFR|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|OGFOD1	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	BBS2|NUDT21|BBS2|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2	Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Transverse|Heart_Left_Ventricle|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs11373	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.187311	0.237374	0.202446	0.140351	0.250000	0.172414	0.149390	0.200758	0.25	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	0/1:48,53:101:99:1316,0,1145	5	0	5	0
chr16	70860121	70860121	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon71:c.G12076A:p.A4026T	Ciliary dyskinesia, primary, 5, Autosomal recessive	1	1068	453	0	0	453	0.174971	.	.	.	2839229	not_specified|Primary_ciliary_dyskinesia_5	MedGen:CN169374|MONDO:MONDO:0012088,MedGen:C1837615,OMIM:608647,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.0225746868454	.	.	.	.	.	.	.	.	.	.	0.0634317	1651	26028	rs11075798	0.0394	0.1019	0.0403	0.0385	0.0885	0.0391	0.0390	0.0854	0.0841	0.0885	0.0553	0.0317	0.0242	0.0367	0.0556	0.0402	0.0356	0.0177	0.0073	0.0345	0.0069	0.0078	0.0166	0.0070	0.0068	0.0154	0.0150	0.0166	0.0027	0.0062	0.0050	0.0056	0.0049	0	0.0037	0.0078	0.0023	0.897	0.02442	T	.	.	.	.	.	.	.	.	.	0.005716	0.32572	U	0.000000	0.804833	0.29071	N	1.76	0.45711	L	5.45	0.00969	T	-1.07	0.27876	N	0.132	0.12770	-0.6743	0.61634	T	0.003	0.01059	T	10	0.1010932	0.18449	T	0.022575	0.45482	T	0.037	0.09474	0.117	0.02508	0.0401082797425	0.02173	0.19250575897775737	0.19168	.	.	0.353295892477	0.18406	T	0.054064	0.29619	T	-0.236823	0.15757	T	-0.577957	0.14727	T	0.767720818519592	0.44303	D	.	.	.	0.0855957	0.19863	0.091075234	0.21393	0.0855957	0.19862	0.091075234	0.21393	-4.298	0.28149	T	.	.	0.096	0.15251	B	.	.	2.662526	0.34688	19.70	0.89959342871089099	0.19254	0.59907	0.31045	D	AEFBI	0.107291	0.21381	N	-0.24189496805192	0.31428	1.762157	-0.118700817344249	0.34636	1.99462	0.999895138418875	0.45129	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	2.34	0.28071	1.133000	0.31043	0.913000	0.22643	0.599000	0.40250	0.843000	0.30332	0.824000	0.27153	0.971000	0.54645	0.1289:0.727:0.0:0.1441	8.319	0.31276	550	0.72197	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	319.46	137	chr16	70860121	.	C	T	319.46	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-1.571;DP=749;ExcessHet=1.5895;FS=3.97;InbreedingCoeff=-0.23;MLEAC=3;MLEAF=0.15;MQ=48.57;MQRankSum=-4.713;QD=0.72;ReadPosRankSum=2.62;SOR=1.15	GT:AD:DP:GQ:PL	0/1:78,13:91:63:63,0,2089	6	0	4	0
chr16	88432319	88432319	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C4849T:p.P1617S	Brittle cornea syndrome 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	344340	not_provided|Cardiovascular_phenotype|Brittle_cornea_syndrome_1|ZNF469-related_disorder	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.007	0.413174753535	.	0.000399361	0.0006	0	0	0	0	0	0	0.0012	7.76e-05	12	154602	rs557351664	0.0001	0.0001	5.657e-05	0.0002	0.0014	9.41e-05	8.869e-05	0.0012	0.0011	0	0	0	2.798e-05	0	0.0011	2.595e-05	0.0001	0.0014	8.534e-05	8.53e-05	6.424e-05	0.0001	0.0014	4.953e-05	3.959e-05	0.0007	0.0005	2.405e-05	0	0	0	0	0	0	5.879e-05	0.0005	0.0014	0.171	0.22746	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.37	0.05847	T	-1.43	0.35194	N	0.072	0.04547	-0.9214	0.45362	T	0.010	0.03492	T	9	0.019594729	0.00440	T	0.413175	0.93641	D	0.007	0.00512	0.257	0.19845	0.16115917748	0.15686	0.13371102965942055	0.13295	.	.	0.227654546499	0.01799	T	0.011068	0.09921	T	-0.60726	0.00132	T	-0.685597	0.06647	T	0.0281935885798024	0.01716	T	0.526147	0.17328	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.23744	B	.;.	.;.	-0.631801	0.01487	0.093	0.89308696089830986	0.18686	0.09272	0.15061	N	AEFDBI	0.073729	0.14755	N	-1.22770479027339	0.04602	0.2080409	-1.27271209748788	0.04803	0.2274343	0.129737375171041	0.17066	0.646311	0.45356	0	0.588066	0.40923	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.17	0.884	0.18317	-1.425000	0.02552	-2.451000	0.03738	-0.316000	0.05924	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1803:0.541:0.1752:0.1035	3.021	0.05707	.	.	.;.	.	.	.	.	.	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	2230.43	85	chr16	88432319	.	C	T	2230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.276;DP=913;ExcessHet=0;FS=2.592;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.257;SOR=0.905	GT:AD:DP:GQ:PL	0/1:88,91:179:99:2242,0,2265	9	0	1	0
chr16	88723301	88723301	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon32:c.G4363A:p.A1455T	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	382	1133	7	0	0	7	0.00307963	.	.	.	703890	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	.	.	0.00119808	0.0024	0	0	0	0.0122	0.0036	0.0062	0.0018	0.0004657	72	154602	rs191656121	0.0015	0.0014	0.0014	0.0016	0.0053	0.0014	0.0014	0.0038	0.0033	0.0001	0.0006	0.0002	0.0006	0.0016	0.0053	0.0016	0.0012	0.0014	0.0016	0.0016	0.0017	0.0015	0.0028	0.0014	0.0014	0.0025	0.0023	0.0001	0	0.0007	0	0.0012	0.0010	0.0068	0.0028	0.0024	0.0025	0.485	0.08115	T	0.038	0.51421	D	0.343	0.33512	B	0.035	0.22741	B	0.000890	0.41231	D	0.200054	0.930638	0.36964	D	1.785	0.46417	L	-0.71	0.72889	T	-1.15	0.29525	N	0.223	0.25006	-0.8457	0.52263	T	0.206	0.56431	T	10	0.004822403	0.00102	T	.	.	.	0.081	0.23632	.	.	0.134007934775	0.12933	0.1714602444143789	0.17066	.	.	0.516444385052	0.41126	T	0.072419	0.34450	T	-0.423406	0.01628	T	-0.383075	0.35361	T	0.0125514325208221	0.00208	T	0.825517	0.48813	T	0.084059775	0.19440	0.09396206	0.22219	0.084059775	0.19439	0.09396206	0.22219	-5.355	0.40484	T	0.10148391091314822	0.07607	0.089	0.12323	B	.	.	3.390508	0.46937	22.4	0.99882234198270403	0.95813	0.76538	0.37545	D	AEFDBCI	0.268612	0.38506	N	0.10048653159397	0.46485	2.88814	0.130408842044348	0.46112	2.862587	0.988704923019811	0.31601	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.1	4.09	0.47038	0.636000	0.24333	3.957000	0.40718	0.599000	0.40250	0.138000	0.23473	0.999000	0.35428	0.977000	0.56843	0.0:0.7677:0.1478:0.0845	9.444	0.37852	873	0.30802	Piezo domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005917	0.000000	0.012195	0.007143	0.000000	0.000000	0.000000	0.011628	0.05	771.43	42	chr16	88723301	.	C	T	771.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.835;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.402;SOR=0.591	GT:AD:DP:GQ:PL	0/1:30,35:65:99:783,0,658	9	0	1	0
chr16	88736210	88736210	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon12:c.G1495A:p.V499I	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	426	1085	9	2	0	13	0.00595511	.	.	.	1196174	not_provided|Inborn_genetic_diseases|PIEZO1-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.177545364407	.	0.000399361	0.0005	0	0.0029	0	0	0.0007	0	0.0004	0.000207	32	154602	rs530486445	0.0009	0.0009	0.0010	0.0009	0.0079	0.0009	0.0009	0.0060	0.0054	0.0004	0.0007	0.0014	5.597e-05	0.0001	0.0079	0.0010	0.0008	0.0005	0.0007	0.0007	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0008	0.0001	0	0.0012	0.0014	0	0	0.0068	0.0010	0	0.0006	0.799	0.03125	T	0.351	0.17425	T	0.014	0.16867	B	0.005	0.11217	B	0.000024	0.55875	D	0.065276	0.699722	0.30114	N	0.63	0.15941	N	-1.82	0.84047	D	0.15	0.05310	N	0.109	0.09490	-0.7264	0.59145	T	0.340	0.70608	T	10	0.010295153	0.00230	T	0.177545	0.85296	D	0.285	0.60338	.	.	0.0675242888579	0.06100	0.08238491071398324	0.08173	.	.	0.566157817841	0.48135	T	0.00317	0.02576	T	-0.364518	0.03881	T	-0.356979	0.38403	T	0.0145007613998494	0.00295	T	0.742326	0.36163	T	0.013507873	0.00061	0.026395345	0.00727	0.013507873	0.00061	0.026395345	0.00727	-5.198	0.38921	T	.	.	0.081	0.08272	B	.	.	1.982115	0.25182	16.67	0.99570214088054965	0.72318	0.37958	0.25879	N	AEFBHCI	0.170467	0.29737	N	-0.334845440161081	0.27833	1.530253	-0.168228459271217	0.32714	1.863874	0.99998444847203	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.73	3.52	0.39415	0.534000	0.22807	0.199000	0.15831	-0.256000	0.07045	0.908000	0.31627	0.008000	0.19753	0.963000	0.52385	0.0:0.626:0.0:0.374	3.711	0.07949	862	0.33134	.	.	.	.	.	.	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	0.004310	0.000000	0.000000	0.016807	0.000000	0.000000	0.000000	0.000000	0.05	801.43	41	chr16	88736210	.	C	T	801.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.226;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=1.17;SOR=0.616	GT:AD:DP:GQ:PL	0/1:52,35:87:99:813,0,1372	9	0	1	0
chr17	17147359	17147359	G	A	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon11:c.G1601A:p.R534K,MPRIP:NM_015134:exon11:c.G1247A:p.R416K,MPRIP:NM_201274:exon11:c.G1247A:p.R416K	.	431	1074	17	0	0	17	0.00785219	.	.	.	2716962	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.384	0.0224399987283	0.0003	0.000199681	0.0007	9.614e-05	0.0007	0	0	0.0006	0	0.0023	0.000608	94	154602	rs200990767	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0005	0.0018	0.0018	0.0001	0.0009	0.0008	0	0	0.0028	0.0004	0.0008	0.0021	0.0005	0.0005	0.0004	0.0005	0.0027	0.0004	0.0003	0.0016	0.0013	2.405e-05	0	0.0007	0.0006	0	0	0	0.0006	0	0.0027	0.341	0.12673	T	0.709	0.13993	T	0.939	0.52645	P	0.842	0.60272	P	.	.	.	.	0.999307	0.46608	D	0.89	0.21648	L	-0.92	0.75108	T	-0.28	0.11547	N	0.441	0.48596	-0.5816	0.65554	T	0.328	0.69631	T	9	0.037644327	0.02132	T	0.02244	0.45329	T	0.384	0.70112	.	.	0.890180543243	0.88909	0.8531674880308365	0.85278	0.631570097891	0.57109	.	.	.	0.250749	0.62089	T	-0.164656	0.26045	T	-0.0151516	0.69348	D	0.0525764673948288	0.05946	T	0.885811	0.61165	D	0.23923945	0.46812	0.2482315	0.50369	0.23923945	0.46811	0.2482315	0.50368	-9.435	0.70454	D	.	.	0.246	0.50527	B	.;.;.	.;.;.	3.637068	0.51552	23.1	0.99509447787367855	0.68558	0.96582	0.69863	D	AEFGBCI	0.919119	0.88917	D	0.306371879108372	0.56475	3.812243	0.444331196750598	0.64353	4.688597	0.999999999808468	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.685742	0.62368	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	6.710000	0.74492	11.917000	0.99728	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.542	0.95269	544	0.72685	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|Myosin phosphatase-RhoA interacting protein, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|Myosin phosphatase-RhoA interacting protein, PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.003788	0.05	684.43	40	chr17	17147359	.	G	A	684.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.928;DP=434;ExcessHet=0;FS=1.815;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=1.43;SOR=0.777	GT:AD:DP:GQ:PL	0/1:49,35:84:99:696,0,1142	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	0/1:18,8:33:40:106,0,472	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	0/1:59,54:113:99:1088,0,1328	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|1:156,102:258:99:0|1:21300875_G_T:3807,0,6113:21300875	0	0	10	0
chr17	40086703	40086703	C	T	intronic	THRA	.	.	.	Hypothyroidism, congenital, nongoitrous, 6, Autosomal dominant	0	1511	10	1	0	12	0.00395517	0	0.004	.	429963	not_specified|THRA-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.000798722	0.0008	0	0.0003	0	0.0006	0.0009	0.0011	0.0018	0.0007697	119	154602	rs188965373	0.0009	0.0009	0.0009	0.0010	0.0043	0.0009	0.0009	0.0030	0.0026	0.0002	0.0003	3.829e-05	0	0.0005	0.0043	0.0010	0.0008	0.0013	0.0007	0.0006	0.0007	0.0006	0.0017	0.0005	0.0005	0.0009	0.0009	0.0002	0	6.534e-05	0	0	0.0002	0	0.0011	0.0014	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	.	.	.	.	.	.	.	.	0.1	2688.14	34	chr17	40086703	.	C	T	2688.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.98;DP=552;ExcessHet=0.2348;FS=2.744;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=0.261;SOR=0.864	GT:AD:DP:GQ:PL	0/1:71,57:128:99:1403,0,1626	8	0	2	0
chr17	61483613	61483613	-	GTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	345241	not_provided|Coxopodopatellar_syndrome	MedGen:C3661900|MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003816	59	154602	rs149977669	0.0352	0.0418	0.0350	0.0354	0.0661	0.0348	0.0347	0.0628	0.0614	0.0661	0.0292	0.0748	0.0235	0.0349	0.0442	0.0336	0.0422	0.0325	0.0615	0.0639	0.0624	0.0604	0.0928	0.0604	0.0599	0.0901	0.0890	0.0928	0.0338	0.0454	0.0856	0.0393	0.0354	0.0772	0.0530	0.0633	0.0469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2341.75	5	chr17	61483613	.	A	AGTGTGTGTGT	2341.75	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.366;DP=241;ExcessHet=0.6204;FS=3.708;InbreedingCoeff=0.052;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=32.08;ReadPosRankSum=-0.48;SOR=2.466	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,6:9:96:0|1:61483613_A_AGTGTGTGTGT:242,0,96:61483613	8	0	2	0
chr17	75522195	75522195	G	A	exonic	TSEN54	.	nonsynonymous SNV	TSEN54:NM_207346:exon8:c.G1114A:p.V372M	Pontocerebellar hypoplasia type 2A, Autosomal recessive;Pontocerebellar hypoplasia type 4, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	169410	Olivopontocerebellar_hypoplasia|Inborn_genetic_diseases|Pontocerebellar_hypoplasia_type_4|Pontocerebellar_hypoplasia_type_2A|Pontocerebellar_hypoplasia_type_5|Pontoneocerebellar_hypoplasia|not_provided	Human_Phenotype_Ontology:HP:0006955,Human_Phenotype_Ontology:HP:0007168,MedGen:C1859341|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009166,MedGen:C1856974,OMIM:225753,Orphanet:166063|MONDO:MONDO:0010190,MedGen:C1848526,OMIM:277470,Orphanet:2524|MONDO:MONDO:0012438,MedGen:C1857762,OMIM:610204,Orphanet:166068|MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	0.118195196703	0.0005	.	0.0008	0.0004	0	0	0	0.0010	0	0.0008	0.0003299	51	154602	rs200434678	0.0006	0.0006	0.0005	0.0006	0.0014	0.0005	0.0005	0.0007	0.0005	0.0003	0.0003	0.0002	5.582e-05	0.0004	0.0014	0.0006	0.0007	0.0006	0.0005	0.0005	0.0005	0.0004	0.0007	0.0004	0.0003	0.0006	0.0005	4.811e-05	0	0.0002	0.0006	0.0002	0.0003	0	0.0007	0.0019	0.0006	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	-0.07	0.63738	T	-1.59	0.38345	N	0.752	0.75101	-0.0503	0.81200	T	0.458	0.78935	T	10	0.46890467	0.59741	T	0.118195	0.79817	D	0.274	0.59007	.	.	0.759759855957	0.75757	0.5178459661872079	0.51707	0.916772197932	0.71267	0.510220706463	0.40253	T	0.095302	0.39593	T	-0.13534	0.30636	T	-0.0502145	0.67008	D	0.0725286365497002	0.09002	T	0.90031	0.65351	D	0.37145868	0.58692	0.37359306	0.62543	0.37145868	0.58693	0.37359306	0.62542	-5.083	0.37727	T	0.5609203514789229	0.62870	0.703	0.73074	P	.	.	4.254328	0.64600	24.7	0.96142493142276453	0.28841	0.92706	0.56347	D	AEFBCI	0.747140	0.68929	D	0.756492624111109	0.83330	7.988636	0.705659080762641	0.82810	7.859844	0.999999999995956	0.74766	0.718356	0.82227	0	0.643519	0.57511	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.35	5.35	0.76297	7.089000	0.76571	11.800000	0.96626	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.722000	0.34836	0.0:0.0:1.0:0.0	19.072	0.93128	976	0.04745	.	.	.	.	.	.	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	0.005160	0.010526	0.004190	0.005882	0.000000	0.000000	0.009740	0.000000	0.15	4394.43	87	chr17	75522195	.	G	A	4394.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.014;DP=854;ExcessHet=0;FS=2.325;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=27.29;ReadPosRankSum=1.57;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,47:88:99:.:.:1216,0,998:.	8	1	1	0
chr17	75844239	75844239	C	T	exonic	UNC13D	.	synonymous SNV	UNC13D:NM_199242:exon1:c.G99A:p.P33P	Hemophagocytic lymphohistiocytosis, familial, 3	0	1500	19	3	0	25	0.00826446	.	.	.	256453	Autoinflammatory_syndrome|not_provided|UNC13D-related_disorder|Familial_hemophagocytic_lymphohistiocytosis_3	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|.|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.000599042	0.0013	0.0002	0.002	0	0	0.0016	0.0068	0.0013	0.0001682	26	154602	rs147886860	0.0010	0.0010	0.0009	0.0011	0.0264	0.0010	0.0009	0.0230	0.0217	0.0009	0.0020	0.0113	0.0001	0	0.0264	0.0006	0.0022	0.0016	0.0009	0.0009	0.0010	0.0008	0.0017	0.0008	0.0007	0.0012	0.0010	0.0003	0	0.0017	0.0124	0	9.416e-05	0.0238	0.0007	0.0010	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	.	.	.	.	.	.	.	.	0.1	1164.14	39	chr17	75844239	.	C	T	1164.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.357;DP=397;ExcessHet=0.2348;FS=0.705;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=1.41;SOR=0.611	GT:AD:DP:GQ:PL	0/1:31,21:52:99:441,0,714	8	0	2	0
chr17	75844314	75844314	C	T	exonic	UNC13D	.	synonymous SNV	UNC13D:NM_199242:exon1:c.G24A:p.P8P	Hemophagocytic lymphohistiocytosis, familial, 3	0	1500	19	3	0	25	0.00826446	.	.	.	256454	Autoinflammatory_syndrome|UNC13D-related_disorder|Familial_hemophagocytic_lymphohistiocytosis_3|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|.|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.000599042	0.0016	0.0002	0.0021	0	0.0002	0.0019	0.0081	0.0014	0.001229	190	154602	rs143320460	0.0010	0.0010	0.0009	0.0011	0.0266	0.0010	0.0009	0.0231	0.0218	0.0009	0.0020	0.0113	2.521e-05	7.697e-05	0.0266	0.0006	0.0022	0.0016	0.0010	0.0010	0.0010	0.0009	0.0017	0.0008	0.0008	0.0012	0.0010	0.0003	0.0011	0.0017	0.0124	0	0.0002	0.0238	0.0007	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.018163	0.010204	0.023161	0.049708	0.000000	0.008621	0.006135	0.007576	0.1	1317.14	39	chr17	75844314	.	C	T	1317.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.441;DP=395;ExcessHet=0.2348;FS=0.704;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-1.231;SOR=0.787	GT:AD:DP:GQ:PL	0/1:23,23:46:99:523,0,494	8	0	2	0
chr17	80047356	80047356	C	T	exonic	CCDC40	.	synonymous SNV	CCDC40:NM_001243342:exon4:c.C630T:p.S210S,CCDC40:NM_001330508:exon4:c.C630T:p.S210S,CCDC40:NM_017950:exon4:c.C630T:p.S210S	Ciliary dyskinesia, primary, 15	1	1500	21	0	0	21	0.00695134	.	.	.	194478	not_specified|Primary_ciliary_dyskinesia_15|not_provided|Primary_ciliary_dyskinesia	MedGen:CN169374|MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0036	0.00379393	0.0058	0.0011	0.0024	0.0001	0.0228	0.0065	0.0072	0.0045	0.0053751	831	154602	rs117419007	0.0060	0.0060	0.0060	0.0060	0.0059	0.0059	0.0059	0.0058	0.0057	0.0009	0.0030	0.0060	0	0.0224	0.0038	0.0059	0.0053	0.0052	0.0048	0.0048	0.0046	0.0049	0.0057	0.0045	0.0044	0.0052	0.0050	0.0011	0	0.0035	0.0063	0	0.0179	0.0136	0.0057	0.0033	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.001013	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1106.43	35	chr17	80047356	.	C	T	1106.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.967;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.56;SOR=0.659	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1118,0,1042	9	0	1	0
chr17	80184196	80184196	G	A	exonic	CARD14	.	synonymous SNV	CARD14:NM_001257970:exon4:c.G633A:p.E211E,CARD14:NM_024110:exon4:c.G633A:p.E211E,CARD14:NM_001366385:exon7:c.G633A:p.E211E	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	0	505	725	292	0	1309	0.564467	.	.	.	390302	not_provided|Pityriasis_rubra_pilaris|Psoriasis_2|not_specified	MedGen:C3661900|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3867	0.347045	0.4547	0.4591	0.4132	0.3050	0.5434	0.4586	0.4259	0.4751	0.27294	42197	154602	rs4889990	0.3755	0.3729	0.3740	0.3771	0.4346	0.3747	0.3743	0.4308	0.4292	0.4143	0.2620	0.3677	0.2342	0.3867	0.4186	0.3783	0.3740	0.4346	0.3784	0.3786	0.3796	0.3771	0.4262	0.3758	0.3747	0.4112	0.4091	0.4164	0.3315	0.3063	0.3686	0.2088	0.3755	0.4150	0.3826	0.3685	0.4262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.432990	0.461957	0.414127	0.444118	0.550000	0.500000	0.412500	0.418605	0.55	28735.0	180	chr17	80184196	.	G	A	28735.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=0.462;DP=1576;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=-0.366;SOR=0.673	GT:AD:DP:GQ:PL	1/1:0,194:194:99:5837,581,0	2	3	5	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	1/1:0,103:103:99:3260,309,0	1	7	2	0
chr18	46485102	46485102	G	A	exonic	LOXHD1	.	synonymous SNV	LOXHD1:NM_001145473:exon7:c.C816T:p.N272N,LOXHD1:NM_001173129:exon7:c.C816T:p.N272N,LOXHD1:NM_001308013:exon19:c.C2478T:p.N826N,LOXHD1:NM_001145472:exon21:c.C2766T:p.N922N,LOXHD1:NM_144612:exon38:c.C5913T:p.N1971N,LOXHD1:NM_001384474:exon39:c.C6099T:p.N2033N	Deafness, autosomal recessive 77, Autosomal recessive	2	1492	27	1	0	29	0.00962496	.	.	.	176689	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_77|not_specified	MedGen:C3661900|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0009	0.00159744	0.0056	0.0004	0	0.0145	0	0.0017	0.0041	0.0124	0.0010802	167	154602	rs146200756	0.0019	0.0019	0.0016	0.0023	0.0113	0.0019	0.0018	0.0107	0.0105	0.0003	0.0008	0.0006	0.0052	0.0001	0.0093	0.0013	0.0025	0.0113	0.0014	0.0015	0.0013	0.0016	0.0128	0.0013	0.0012	0.0102	0.0092	0.0002	0	0.0007	0.0003	0.0080	0.0003	0	0.0014	0.0014	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.006231	0.000000	0.005348	0.010870	0.000000	0.019231	0.000000	0.006667	0.05	604.43	34	chr18	46485102	.	G	A	604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.091;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.28;ReadPosRankSum=-1.22;SOR=0.756	GT:AD:DP:GQ:PL	0/1:52,31:83:99:616,0,1178	9	0	1	0
chr19	19196988	19196988	C	T	exonic	RFXANK	.	synonymous SNV	RFXANK:NM_001278728:exon3:c.C210T:p.T70T,RFXANK:NM_001370233:exon3:c.C213T:p.T71T,RFXANK:NM_001370234:exon3:c.C213T:p.T71T,RFXANK:NM_001370236:exon3:c.C210T:p.T70T,RFXANK:NM_001370237:exon3:c.C210T:p.T70T,RFXANK:NM_001370238:exon3:c.C213T:p.T71T,RFXANK:NM_001278727:exon4:c.C213T:p.T71T,RFXANK:NM_001370235:exon4:c.C210T:p.T70T,RFXANK:NM_003721:exon4:c.C213T:p.T71T,RFXANK:NM_134440:exon4:c.C210T:p.T70T	MHC class II deficiency, complementation group B, Autosomal recessive	0	1301	207	14	0	235	0.082834	.	.	.	332953	MHC_class_II_deficiency|not_specified	MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0456	0.028754	0.0523	0.0107	0.0270	0.0002	0.0562	0.0697	0.0583	0.0508	0.0514612	7956	154602	rs72997200	0.0628	0.0628	0.0621	0.0635	0.0723	0.0625	0.0623	0.0677	0.0675	0.0099	0.0334	0.0877	0.0001	0.0583	0.0723	0.0681	0.0634	0.0532	0.0460	0.0460	0.0470	0.0449	0.0674	0.0451	0.0447	0.0658	0.0652	0.0112	0.0088	0.0462	0.0871	0.0006	0.0525	0.1054	0.0674	0.0540	0.0466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.049089	0.051020	0.036685	0.029240	0.150000	0.068966	0.088957	0.037879	0.1	1728.14	36	chr19	19196988	.	C	T	1728.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.28;DP=407;ExcessHet=0.2348;FS=8.319;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.42;SOR=1.367	GT:AD:DP:GQ:PL	0/1:33,26:59:99:686,0,783	8	0	2	0
chr19	55154042	55154042	C	T	exonic	TNNI3	.	unknown	UNKNOWN	Cardiomyopathy, dilated, 1FF;Cardiomyopathy, familial restrictive, 1, Autosomal dominant;Cardiomyopathy, hypertrophic, 7, Autosomal dominant	14	1118	329	61	0	451	0.167845	.	.	YES	52561	Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Dilated_cardiomyopathy_2A|Cardiomyopathy|Cardiomyopathy,_familial_restrictive,_1|Hypertrophic_cardiomyopathy_7|Primary_ciliary_dyskinesia	MedGen:CN230736|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN239247|MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249|MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0485	0.0477236	0.0660	0.0124	0.0333	0.0448	0.0631	0.0718	0.0944	0.1065	0.0637314	9853	154602	rs3729841	0.0678	0.0679	0.0658	0.0699	0.1603	0.0675	0.0673	0.1510	0.1473	0.0123	0.0360	0.0934	0.0259	0.0627	0.1603	0.0680	0.0744	0.1089	0.0510	0.0512	0.0507	0.0512	0.1023	0.0500	0.0496	0.0949	0.0919	0.0122	0.1086	0.0409	0.0968	0.0417	0.0598	0.1463	0.0686	0.0696	0.1023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.131923	0.080808	0.118207	0.178363	0.100000	0.086207	0.143293	0.128788	0.15	5216.45	43	chr19	55154042	.	C	T	5216.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.777;DP=690;ExcessHet=0.7463;FS=2.431;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.03;SOR=0.532	GT:AD:DP:GQ:PL	0/1:66,70:136:99:1755,0,1646	7	0	3	0
chr19	55156279	55156279	C	A	exonic	TNNI3	.	unknown	UNKNOWN	Cardiomyopathy, dilated, 1FF;Cardiomyopathy, familial restrictive, 1, Autosomal dominant;Cardiomyopathy, hypertrophic, 7, Autosomal dominant	0	1410	107	5	0	117	0.0398366	.	.	YES	52536	Hypertrophic_cardiomyopathy|Cardiomyopathy|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Dilated_cardiomyopathy_2A|Cardiomyopathy,_familial_restrictive,_1|not_provided|Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy_7|Primary_ciliary_dyskinesia	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:CN239247|MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154|MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0368	0.0227636	0.0461	0.0086	0.0151	0	0.0951	0.0649	0.0406	0.0236	0.0365713	5654	154602	rs3729711	0.0501	0.0501	0.0504	0.0497	0.0559	0.0498	0.0496	0.0555	0.0553	0.0078	0.0183	0.0422	0.0002	0.0792	0.0328	0.0559	0.0440	0.0215	0.0392	0.0392	0.0389	0.0395	0.0567	0.0384	0.0380	0.0552	0.0546	0.0089	0.1217	0.0314	0.0380	0.0002	0.0809	0.0408	0.0567	0.0313	0.0176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021397173	0.00031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.366501	0.03775	T	-0.257494	0.49073	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.50880	B	.	.	1.057261	0.14390	10.96	0.93413201715812977	0.23177	0.65600	0.32792	D	AEFDBHCI	0.472690	0.51769	N	.	.	.	.	.	.	0.999994663260938	0.74766	0.72623	0.87236	0	0.578056	0.33634	0	0.594344	0.31042	0	0.620976	0.48614	0	.	.	4.42	2.15	0.26590	0.100000	0.15067	-0.636000	0.08101	0.599000	0.40250	0.072000	0.22128	0.018000	0.20648	0.993000	0.69303	0.354:0.4448:0.0:0.2012	3.418	0.06954	988	0.01987	.	PPP6R1|TMEM86B	Esophagus_Mucosa|Thyroid	.	.	rs3729711	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	0.034240	0.040404	0.019074	0.029240	0.050000	0.034483	0.057927	0.034091	0.05	1209.43	37	chr19	55156279	.	C	A	1209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.022;DP=426;ExcessHet=0;FS=5.258;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.082;SOR=1.286	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1221,0,1192	9	0	1	0
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	1/1:0,52:54:99:1729,162,0	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	0/1:113,138:251:99:2969,0,2612	4	1	5	0
chr20	17975704	17975704	C	T	exonic	MGME1	.	nonsynonymous SNV	MGME1:NM_001363738:exon3:c.C292T:p.R98W,MGME1:NM_052865:exon3:c.C532T:p.R178W,MGME1:NM_001310338:exon4:c.C577T:p.R193W	Mitochondrial DNA depletion syndrome 11, Autosomal recessive	438	1079	5	0	0	5	0.0023116	.	.	.	438876	not_provided|Mitochondrial_DNA_depletion_syndrome_11	MedGen:C3661900|MONDO:MONDO:0014039,MedGen:C3554462,OMIM:615084,Orphanet:352447	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.671	.	0.0032	0.00219649	0.0042	0.0010	0.0011	0	0.0165	0.0054	0.0055	0.0007	0.0043208	668	154602	rs143417446	0.0057	0.0057	0.0059	0.0056	0.0063	0.0056	0.0056	0.0062	0.0061	0.0009	0.0015	0.0023	0	0.0151	0.0014	0.0063	0.0049	0.0007	0.0043	0.0043	0.0042	0.0044	0.0058	0.0040	0.0039	0.0053	0.0051	0.0012	0.0011	0.0027	0.0017	0	0.0144	0	0.0058	0.0033	0.0004	0.077	0.53172	T	0.113	0.36901	T	0.996	0.68779	D	0.663	0.52893	P	0.535039	0.11597	N	0.798993	1	0.81001	D	2.08	0.57402	M	0.9	0.46028	T	-2.08	0.47514	N	0.687	0.76296	-1.0329	0.19522	T	0.092	0.35228	T	10	0.008896202	0.00201	T	.	.	.	0.671	0.87820	.	.	0.564094393547	0.56072	0.52699069047774	0.52623	0.109337524117	0.12337	0.196669816971	0.00366	T	0.015923	0.21190	T	-0.464948	0.00915	T	-0.436916	0.29154	T	0.030974595485354	0.02142	T	0.594241	0.25103	T	0.21189569	0.43527	0.088061295	0.20510	0.22310755	0.44925	0.09451987	0.22375	-8.07	0.61546	D	0.2913666882063881	0.38796	0.107	0.22428	B	.;.	.;.	4.180714	0.62939	24.5	0.99920452701939011	0.98721	0.97725	0.76683	D	AEFBI	0.571564	0.57550	D	0.3142665459232	0.56879	3.853546	0.302518660635743	0.55685	3.731617	0.99999985021651	0.74766	0.732398	0.92422	0	0.71359	0.82159	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.49	4.55	0.55429	5.691000	0.67911	1.807000	0.28930	0.599000	0.40250	0.897000	0.31356	0.229000	0.23770	0.935000	0.47363	0.0:0.8552:0.0:0.1448	11.489	0.49619	782	0.47442	.;.	.	.	.	.	.	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	0.001008	0.005051	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	509.43	36	chr20	17975704	.	C	T	509.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.848;DP=324;ExcessHet=0;FS=3.058;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.063;SOR=0.269	GT:AD:DP:GQ:PL	0/1:19,23:42:99:521,0,490	9	0	1	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	212	501	433	376	0	1185	0.541838	.	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	775.62	9	chr20	44429378	.	T	C	775.62	.	AC=10;AF=0.556;AN=18;DP=50;ExcessHet=0;FS=0;InbreedingCoeff=0.7646;MLEAC=10;MLEAF=0.556;MQ=60;QD=33.72;SOR=2.4	GT:AD:DP:GQ:PL	1/1:0,4:4:12:132,12,0	4	5	0	1
chr21	34449517	34449604	CGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG	-	exonic	KCNE1	.	frameshift deletion	KCNE1:NM_001127670:exon2:c.31_118del:p.P11Afs*24,KCNE1:NM_001270404:exon2:c.31_118del:p.P11Afs*24,KCNE1:NM_001127668:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001127669:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270402:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270403:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270405:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_000219:exon4:c.31_118del:p.P11Afs*24	Jervell and Lange-Nielsen syndrome 2, Autosomal recessive;Long QT syndrome 5, Autosomal dominant	200	1278	43	1	0	45	0.017301	.	.	.	1192622	Long_QT_syndrome_5|not_provided	MONDO:MONDO:0013372,MedGen:C1867904,OMIM:613695,Orphanet:101016,Orphanet:768|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	0.0059	0.0042	0.0048	0.0232	0.0044	0.0043	0.0215	0.0208	0.0079	0.0037	0.0084	0.0232	0.0086	0.0043	0.0035	0.0070	0.0035	0.0025	0.0089	0.0026	0.0023	0.0035	0.0022	0.0021	0.0028	0.0026	0.0035	0	0.0008	0.0023	0.0031	0.0013	0	0.0026	0.0009	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	32.33	34	chr21	34449516	.	CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG	C	32.33	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.376;DP=411;ExcessHet=0.7463;FS=9.758;InbreedingCoeff=-0.2229;MLEAC=3;MLEAF=0.15;MQ=37.95;MQRankSum=3.73;QD=0.21;ReadPosRankSum=-3.041;SOR=0.246	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,32:42:10:0|1:34449516_CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG_C:10,0,310:34449516	7	0	3	0
chr21	45999190	45999190	A	C	exonic	COL6A1	.	nonsynonymous SNV	COL6A1:NM_001848:exon26:c.A1712C:p.K571T	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	273707	not_specified|Bethlem_myopathy_1A|not_provided	MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.878	0.470239152179	.	.	0.0002	0	0	0	0	0.0004	0	9.97e-05	9.06e-05	14	154602	rs751040647	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.995e-05	4.619e-05	3.861e-05	0	1.921e-05	0	0.0004	0.0002	1.188e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.238e-05	0.0002	0.0002	2.411e-05	0	0	0	0	0	0	0.0003	0	0	0.051	0.39334	T	0.067	0.44302	T	1.0	0.90584	D	0.946	0.68276	D	0.000169	0.48594	D	0.134020	0.999999	0.58761	D	2.91	0.84121	M	-3.39	0.94210	D	-3.75	0.71157	D	0.76	0.86618	0.622	0.92187	D	0.829	0.94252	D	10	0.8363202	0.82788	D	0.470239	0.94667	D	0.878	0.96391	.	.	0.92042458895	0.91962	0.6979567475493687	0.69736	0.90736318531	0.70896	0.81877219677	0.84840	D	0.689071	0.90942	D	0.206829	0.74532	D	0.425762	0.92924	D	0.89400726556778	0.54532	D	0.90181	0.65830	D	0.2429011	0.47223	0.19661216	0.43399	0.22787972	0.45497	0.20426981	0.44541	-6.982	0.53902	T	0.7037737111120517	0.78308	0.839	0.79163	P	.;.	.;.	3.927283	0.57374	23.8	0.99732631479577305	0.82904	0.99164	0.92173	D	AEFDBI	0.911126	0.86997	D	0.45961291348972	0.64750	4.736756	0.424129925302867	0.63073	4.533902	0.999999999997227	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.5	4.5	0.54382	7.486000	0.80232	8.966000	0.78465	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.781000	0.36947	1.0:0.0:0.0:0.0	14.099	0.64569	976	0.04745	.;.	.	.	.	.	.	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	658.43	39	chr21	45999190	.	A	C	658.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.207;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=0.461;SOR=0.719	GT:AD:DP:GQ:PL	0/1:36,32:68:99:670,0,822	9	0	1	0
chr22	18918451	18918451	C	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon11:c.G968A:p.R323H,LOC102724788:NM_001368249:exon11:c.G1292A:p.R431H,LOC102724788:NM_001368250:exon11:c.G968A:p.R323H,PRODH:NM_016335:exon11:c.G1292A:p.R431H	.	1	1322	185	14	0	213	0.0745537	.	.	YES	19050	not_specified|Proline_dehydrogenase_deficiency|Schizophrenia_4	MedGen:CN169374|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.145	.	0.0816	0.0429313	0.0794	0.0387	0.0503	0.0009	0.0537	0.1113	0.0870	0.0471	0.0744363	11508	154602	rs2904552	0.1027	0.1011	0.1062	0.0995	0.1480	0.1014	0.1009	0.1458	0.1449	0.0328	0.0685	0.1381	0.0006	0.0682	0.1018	0.1480	0.1109	0.0519	0.0509	0.0963	0.0519	0.0496	0.0957	0.0460	0.0441	0.0841	0.0797	0.0216	0.5000	0.0466	0.0789	0	0.0414	0.0370	0.0957	0.0625	0.0271	0.004	0.65419	D	0.032	0.53426	D	0.945	0.53279	P	0.408	0.44733	B	0.000345	0.45440	N	0.229694	0.999478	0.47197	A	.	.	.	1.31	0.35405	T	-3.25	0.66206	D	0.158	0.20129	-1.1817	0.00345	T	0.006	0.01981	T	10	0.0036971867	0.00068	T	.	.	.	0.145	0.38592	.	.	.	.	0.6217227933177322	0.62105	0.435677157202	0.43665	0.409796655178	0.26428	T	0.083212	0.37003	T	-0.547933	0.00300	T	-0.463128	0.26258	T	0.0329422262464058	0.02462	T	0.885311	0.61048	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.06525	B	.;.;.;.	.;.;.;.	2.691791	0.35142	19.82	0.99849403335407028	0.92925	0.80218	0.39914	D	AEFDGBI	0.380323	0.46301	N	0.0207175707020348	0.42797	2.585497	-0.030060004355919	0.38363	2.259183	0.940988181924042	0.27456	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.49	1.16	0.19936	1.447000	0.34712	0.795000	0.21604	-0.775000	0.03392	1.000000	0.71638	0.999000	0.35428	0.015000	0.10482	0.0:0.7169:0.0:0.2831	8.739	0.33706	923	0.18507	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain	.	.	.	.	rs2904552	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.100000	0.096939	0.119891	0.088235	0.111111	0.129310	0.088608	0.080769	0.15	4827.45	38	chr22	18918451	.	C	T	4827.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.29;DP=634;ExcessHet=0.7463;FS=3.934;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.3;MQRankSum=-3.767;QD=12.64;ReadPosRankSum=0.556;SOR=0.901	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1369,0,1040	7	0	3	0
chr22	23803435	23803435	C	T	intronic	SMARCB1	.	.	.	Coffin-Siris syndrome 3, Autosomal dominant;Rhabdoid tumors, somatic	0	1510	11	1	0	13	0.00428619	.	.	.	351200	Rhabdoid_tumor_predisposition_syndrome_1|Intellectual_disability,_autosomal_dominant_15|Coffin-Siris_syndrome|not_provided|not_specified|SMARCB1-related_schwannomatosis|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0012252,MedGen:C1836327,OMIM:609322,Orphanet:231108,Orphanet:69077|MONDO:MONDO:0013820,MedGen:C3553248,OMIM:614608,Orphanet:1465|MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024517,MedGen:C4048809,OMIM:162091,Orphanet:93921|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0028	0.000599042	0.0023	0.0009	0.0005	0.0001	0.0011	0.0038	0.0022	0.0001	0.0022315	345	154602	rs184021903	0.0031	0.0031	0.0031	0.0031	0.0045	0.0030	0.0030	0.0036	0.0036	0.0005	0.0014	0.0026	2.519e-05	0.0007	0.0045	0.0037	0.0029	0.0001	0.0023	0.0023	0.0025	0.0021	0.0037	0.0021	0.0020	0.0033	0.0032	0.0007	0	0.0035	0.0012	0	0.0004	0.0034	0.0037	0.0033	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1070.43	42	chr22	23803435	.	C	T	1070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.506;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-0.947;SOR=0.664	GT:AD:DP:GQ:PL	0/1:65,48:113:99:1082,0,1480	9	0	1	0
chr22	26027319	26027319	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.C7348T:p.R2450W,MYO18B:NM_032608:exon43:c.C7345T:p.R2449W	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	426	1089	7	0	0	7	0.00320366	.	.	.	578584	not_provided|Klippel-Feil_anomaly-myopathy-facial_dysmorphism_syndrome	MedGen:C3661900|MONDO:MONDO:0014689,MedGen:C4225285,OMIM:616549,Orphanet:447974	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.632	0.293313125239	0.0042	0.00219649	0.0049	0.0014	0.0041	0.0001	0.0029	0.0067	0.0022	0.0033	0.0048835	755	154602	rs149103381	0.0057	0.0057	0.0057	0.0057	0.0065	0.0056	0.0056	0.0064	0.0064	0.0006	0.0044	0.0022	7.557e-05	0.0034	0.0029	0.0065	0.0052	0.0035	0.0045	0.0044	0.0049	0.0040	0.0069	0.0042	0.0041	0.0064	0.0062	0.0015	0	0.0047	0.0020	0.0002	0.0034	0	0.0069	0.0066	0.0033	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000114	0.50451	D	0.000000	0.877567	0.35685	D	1.935	0.51832	L	-3.13	0.92938	D	-4.62	0.79143	D	0.704	0.70790	0.799	0.94404	D	0.805	0.93400	D	10	0.023308277	0.00606	T	0.293313	0.90637	D	0.632	0.85872	.	.	0.93149503283	0.93079	0.5363631325941575	0.53561	0.403975214382	0.41314	0.521508395672	0.41839	T	0.480227	0.80931	T	-0.0663114	0.41914	T	0.135977	0.79282	D	0.0359432094479308	0.02971	T	0.889211	0.62120	D	0.4668643	0.65098	0.41178858	0.65400	0.46537626	0.65006	0.44655162	0.67766	-6.469	0.50046	T	.	.	0.207	0.46960	B	.;.;.	.;.;.	4.662254	0.74425	26.2	0.9991325294484098	0.98238	0.86569	0.45877	D	AEFDBI	0.621542	0.60619	D	0.343025289852147	0.58371	4.009039	0.245234731715821	0.52377	3.413073	0.799939675151461	0.24168	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.17	2.9	0.32809	0.880000	0.27798	2.803000	0.34863	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.716000	0.34643	0.4518:0.5482:0.0:0.0	11.895	0.51932	905	0.23532	.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.1	13591.1	391	chr22	26027319	.	C	T	13591.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.33;DP=2835;ExcessHet=0.2348;FS=0.52;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.269;SOR=0.773	GT:AD:DP:GQ:PL	0/1:322,284:606:99:6579,0,7326	8	0	2	0
chr22	43928847	43928847	C	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon3:c.C444G:p.I148M	.	418	622	397	85	0	567	0.313087	.	.	.	352627	NAFLD1|Hepatic_steatosis|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.339	.	0.1953	0.262181	0.2632	0.1376	0.5723	0.3785	0.2262	0.2293	0.2687	0.2174	0.255825	39551	154602	rs738409	0.2325	0.2339	0.2333	0.2317	0.5358	0.2319	0.2316	0.5301	0.5278	0.1320	0.5358	0.2180	0.4180	0.2272	0.2696	0.2179	0.2294	0.2237	0.2281	0.2285	0.2230	0.2335	0.4235	0.2261	0.2253	0.4148	0.4113	0.1395	0.2720	0.4235	0.2111	0.3866	0.2201	0.2483	0.2262	0.2624	0.2372	0.054	0.38633	T	0.003	0.76473	D	0.994	0.66517	D	0.944	0.68059	D	0.016391	0.27990	N	0.316000	0.000289165	0.48481	P	3.045	0.86684	M	-1.41	0.80560	T	-2.57	0.55501	D	0.173	0.18512	-1.0285	0.20940	T	0.000	0.00011	T	9	0.0025928915	0.00039	T	.	.	.	0.339	0.66106	.	.	.	.	0.6869485544173306	0.68634	0.503164557005	0.48655	0.487125337124	0.37040	T	0.29702	0.66963	T	-0.485539	0.00687	T	-0.326399	0.41867	T	0.0306719473680774	0.02094	T	0.692831	0.33234	T	0.40859076	0.61323	0.35764056	0.61255	0.40859076	0.61324	0.35764056	0.61254	-9.124	0.68491	D	.	.	0.329	0.55166	B	.;.	.;.	1.374372	0.17849	13.40	0.99302197316743868	0.58686	0.52933	0.29250	D	AEFBCI	0.108930	0.21653	N	-0.255780834863084	0.30874	1.725634	-0.533311740709871	0.21251	1.14871	0.99975902258671	0.42595	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.7	-1.97	0.07091	-1.142000	0.03314	-1.110000	0.06300	-0.176000	0.10722	0.009000	0.18154	0.001000	0.17328	0.035000	0.13729	0.0:0.4064:0.2195:0.3741	6.383	0.20749	855	0.34697	Patatin-like phospholipase domain|Patatin-like phospholipase domain;.	SAMM50|SAMM50|SAMM50|PNPLA3|PNPLA3	Adipose_Subcutaneous|Breast_Mammary_Tissue|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	SAMM50|SAMM50|SAMM50|PNPLA3|SAMM50	Artery_Tibial|Colon_Sigmoid|Prostate|Skin_Sun_Exposed_Lower_leg|Testis	rs738409	Benign	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.264854	0.257576	0.247283	0.321637	0.300000	0.258621	0.259146	0.257576	0.25	9352.15	120	chr22	43928847	.	C	G	9352.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.731;DP=798;ExcessHet=2.8389;FS=3.252;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=0.265;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,48:120:99:0|1:43928847_C_G:1788,0,2868:43928847	5	0	5	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	0/1:63,65:128:99:1457,0,1633	0	3	7	0