Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES968	WT	HH	HZ	NC
chr1	55039978	55039978	C	T	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon1:c.C141T:p.S47S,	Hypercholesterolemia, familial, 3	YES	0	1447	73	2	0	77	0.0259172	.	.	249983	Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia|not_specified|Hypercholesterolemia,_familial,_1|not_provided|Hypobetalipoproteinemia|Cardiovascular_phenotype	MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0068	0.00399361	0.0207	0.0041	0.0429	0	0.0519	0.0263	0.028	0.0153	0.0080206	1240	154602	rs28385701	0.0093	0.0093	0.0091	0.0095	0.0323	0.0091	0.0091	0.0282	0.0266	0.0016	0.0102	0.0212	5.281e-05	0.0120	0.0323	0.0090	0.0104	0.0127	0.0083	0.0083	0.0079	0.0088	0.0134	0.0080	0.0078	0.0108	0.0100	0.0016	0.0022	0.0120	0.0210	0.0004	0.0129	0.0374	0.0102	0.0175	0.0134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.04762	2444.11	90	chr1	55039978	.	C	T	2444.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.98;DP=1145;ExcessHet=0.1072;FS=4.022;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=1.22;SOR=0.513	GT:AD:DP:GQ:PL	0/1:57,66:123:99:1589,0,1346	19	0	2	0
chr1	55052420	55052420	G	A	intronic	PCSK9	.	.	.	Hypercholesterolemia, familial, 3	.	2	1308	202	10	0	222	0.0782241	.	.	249986	Hypercholesterolemia,_autosomal_dominant,_3|not_specified|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|Hypobetalipoproteinemia|Familial_hypercholesterolemia	MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MedGen:CN169374|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0457	0.0391374	0.0424	0.0404	0.0280	0.0311	0.0208	0.0476	0.0474	0.0471	0.0415907	6430	154602	rs11800243	0.0427	0.0427	0.0426	0.0429	0.1242	0.0425	0.0423	0.1167	0.1137	0.0413	0.0294	0.0973	0.0263	0.0236	0.1242	0.0428	0.0472	0.0439	0.0403	0.0404	0.0420	0.0386	0.0449	0.0395	0.0391	0.0411	0.0406	0.0394	0.0439	0.0355	0.0931	0.0298	0.0173	0.1531	0.0424	0.0550	0.0449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13334.03	87	chr1	55052420	.	G	A	13334.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.67;DP=1889;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.941;SOR=0.672	GT:AD:DP:GQ:PL	0/1:82,90:172:99:2288,0,2050	15	0	6	0
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q,	Hypercholesterolemia, familial, 3	.	1	0	1	1520	0	3041	1	.	.	249989	Cardiovascular_phenotype|Familial_hypercholesterolemia|not_provided|Hypobetalipoproteinemia|Hypercholesterolemia,_familial,_1|not_specified|Hypercholesterolemia,_autosomal_dominant,_3	MedGen:CN230736|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	1.0	116023.81	140	chr1	55057360	.	A	G	116023.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.17;DP=3833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=31.18;ReadPosRankSum=0.146;SOR=0.726	GT:AD:DP:GQ:PL	1/1:0,200:200:99:6213,600,0	0	21	0	0
chr1	89054647	89054652	AAAAAC	-	intronic	GBP1	.	.	.	.	.	630	387	266	239	0	744	0.490119	.	.	1310281	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4335	0.384984	0.4653	0.2752	0.3198	0.3797	0.6032	0.5117	0.4919	0.4927	0.0001921	5	26028	rs66614512	0.5009	0.4988	0.4991	0.5027	0.5162	0.4999	0.4995	0.5150	0.5146	0.2892	0.3353	0.4420	0.3415	0.6034	0.4709	0.5162	0.4810	0.5115	0.4382	0.4403	0.4351	0.4415	0.5215	0.4354	0.4343	0.5169	0.5151	0.2908	0.4658	0.3465	0.4346	0.3728	0.6123	0.5069	0.5215	0.4378	0.5102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	10989.78	44	chr1	89054646	.	GAAAAAC	G	10989.78	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.571;DP=815;ExcessHet=4.5793;FS=0.576;InbreedingCoeff=-0.2115;MLEAC=16;MLEAF=0.381;MQ=59.79;MQRankSum=0.00;QD=20.24;ReadPosRankSum=0.349;SOR=0.627	GT:AD:DP:GQ:PL	0/1:22,15:37:99:558,0,879	7	2	12	0
chr1	94008251	94008251	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon42:c.G5882A:p.G1961E,	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	YES	0	1444	76	2	0	80	0.0269542	.	.	22927	Cone-rod_dystrophy_3|Retinitis_pigmentosa_19|Severe_early-childhood-onset_retinal_dystrophy|ABCA4-related_retinopathy|not_provided|ABCA4-related_disorder|Inborn_genetic_diseases|Age_related_macular_degeneration_2|Retinitis_pigmentosa|See_cases|Retinal_dystrophy|Stargardt_disease|Macular_dystrophy|MACULAR_DEGENERATION,_AGE-RELATED,_2,_SUSCEPTIBILITY_TO|not_specified	MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718,Orphanet:791|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MONDO:MONDO:0800406,MedGen:CN322612|MedGen:C3661900|MedGen:CN239167|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|.|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:0019353,MedGen:C0271093,Orphanet:827|Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic/Pathogenic,_low_penetrance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	-0.545	N	-3.22	D	0.718	D	0.700	D	0.983	4.439	23.6	5.35	2.941	5.668	19.614	0.760	.	0.0032	0.00319489	0.0051	0.0009	0.0022	0.0003	0.0008	0.0047	0.0099	0.0150	0.0046054	712	154602	rs1800553	0.0034	0.0035	0.0030	0.0038	0.0205	0.0034	0.0033	0.0175	0.0163	0.0011	0.0018	0.0222	0.0005	0.0012	0.0205	0.0024	0.0055	0.0131	0.0031	0.0031	0.0030	0.0032	0.0127	0.0029	0.0028	0.0101	0.0092	0.0006	0	0.0038	0.0239	0	0.0009	0.0238	0.0032	0.0047	0.0127	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.115	0.04602	N	-3.22	0.93352	D	-6.59	0.91998	D	0.958	0.96758	0.718	0.93404	D	0.700	0.89672	D	10	0.013598174	0.00288	T	.	.	.	0.760	0.91837	.	.	0.95236220007	0.95186	0.9507908195564003	0.95063	0.525691241502	0.50218	0.808941185474	0.83330	D	0.735078	0.96525	D	0.104235	0.64747	D	0.388626	0.91732	D	0.0712524204673148	0.08825	T	0.987126	0.95588	D	0.9324829	0.94486	0.8545386	0.91810	0.84769195	0.87167	0.8462905	0.91256	-11.219	0.80845	D	.	.	0.798	0.79927	P	.;.	.;.	4.838295	0.78968	27.0	0.99769034245070287	0.85750	0.99004	0.89829	D	AEFGBI	0.838463	0.75598	D	0.346386318059294	0.58550	4.028	0.449684121595667	0.64697	4.730842	0.999999999850586	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.35	5.35	0.76297	5.885000	0.69480	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:1.0:0.0:0.0	19.614	0.95621	400	0.82730	ABC transporter-like|ABC transporter-like;ABC transporter-like|ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2958.08	33	chr1	94008251	.	C	T	2958.08	.	AC=2;AF=0.048;AN=42;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.29;SOR=1.081	GT:AD:DP:GQ:PL	1/1:0,101:101:99:2986,302,0	20	1	0	0
chr1	100206310	100206310	-	A	intronic	DBT	.	.	.	Maple syrup urine disease, type II, Autosomal recessive	.	0	104	85	27	10	149	0.400576	.	.	190799	not_provided|Maple_syrup_urine_disease	MedGen:C3661900|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226	0.0424	0.0181	0.0374	0.0145	0.0191	0.0287	0.0255	0.021261	3287	154602	rs566272048	0.0260	0.0567	0.0266	0.0253	0.0502	0.0257	0.0256	0.0479	0.0470	0.0502	0.0193	0.0291	0.0282	0.0179	0.0337	0.0260	0.0280	0.0217	0.0008	0.0011	0.0008	0.0008	0.0007	0.0007	0.0006	0.0005	0.0005	0.0006	0	0.0007	0.0047	0.0002	0.0010	0	0.0007	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	9643.85	33	chr1	100206310	.	T	A,TA	9643.85	.	AC=11,5;AF=0.262,0.119;AN=42;BaseQRankSum=-5.020e-01;DP=1443;ExcessHet=4.5793;FS=1.104;InbreedingCoeff=-0.1912;MLEAC=11,4;MLEAF=0.262,0.095;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-5.090e-01;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,15,2:44:99:.:.:364,0,764,291,517,873	7	1	8	0
chr1	158618068	158618068	G	A	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	YES	3	913	508	98	0	704	0.278261	0.0005	0.264	249428	Elliptocytosis_2|Pyropoikilocytosis,_hereditary|not_specified|not_provided|Hemolytic_anemia|Hereditary_spherocytosis_type_3	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2491	0.227835	0.2564	0.1998	0.1610	0.1912	0.3018	0.2874	0.2617	0.2473	0.255081	39436	154602	rs28525570	0.2712	0.2729	0.2704	0.2720	0.2797	0.2705	0.2702	0.2788	0.2785	0.1970	0.1760	0.3492	0.2025	0.2895	0.2419	0.2797	0.2632	0.2453	0.2538	0.2539	0.2524	0.2553	0.2882	0.2517	0.2508	0.2848	0.2834	0.1983	0.2286	0.2184	0.3417	0.1855	0.3091	0.3265	0.2882	0.2640	0.2447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16533.11	113	chr1	158618068	.	G	A	16533.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.748;DP=1490;ExcessHet=1.3217;FS=0.000;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.52;ReadPosRankSum=0.297;SOR=0.671	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1306,0,1264	10	2	9	0
chr1	158627717	158627717	G	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon40:c.C5572G:p.L1858V,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	YES	5	902	520	95	0	710	0.282418	.	.	249434	Elliptocytosis_2|Pyropoikilocytosis,_hereditary|not_specified|Hemolytic_anemia|Hereditary_spherocytosis_type_3|not_provided	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.601	P	0.395	B	0.296	N	0.032	P	2.3	M	0.82	T	-1.004	T	0.100	T	0.16	2.108	13.00	2.68	0.451	2.457	10.249	0.176	.	0.2495	0.227835	0.2567	0.2000	0.1610	0.1910	0.3021	0.2878	0.2617	0.2475	0.255042	39430	154602	rs3737515	0.2731	0.2734	0.2725	0.2737	0.2819	0.2723	0.2721	0.2810	0.2807	0.1983	0.1760	0.3506	0.2028	0.2894	0.2433	0.2819	0.2648	0.2460	0.2536	0.2539	0.2523	0.2550	0.2882	0.2515	0.2506	0.2848	0.2834	0.1981	0.2286	0.2176	0.3430	0.1851	0.3087	0.3207	0.2882	0.2621	0.2442	0.009	0.57480	D	0.019	0.59159	D	0.601	0.39346	P	0.395	0.44317	B	0.295829	0.14686	N	0.398187	0.0322052	0.38617	P	2.66	0.77858	M	0.82	0.48142	T	-2.39	0.52612	N	0.242	0.27316	-1.0044	0.28636	T	0.100	0.37162	T	9	0.0018082857	0.00024	T	.	.	.	0.176	0.44373	.	.	.	.	0.10204742782828059	0.10134	0.151848470416	0.17138	0.413743078709	0.26975	T	0.398082	0.75628	T	-0.578861	0.00196	T	-0.46045	0.26549	T	0.0265270473936109	0.01477	T	0.989945	0.96848	D	0.47455317	0.65569	0.45098418	0.68054	0.5292539	0.68789	0.3938572	0.64094	-7.424	0.57073	T	0.4696991537525536	0.55038	0.119	0.24430	B	.;.	.;.	2.721452	0.35600	19.94	0.99057226967889789	0.51390	0.97183	0.73178	D	AEFBI	0.628036	0.61027	D	-0.0876209270705267	0.37935	2.214285	-0.10368608914381	0.35242	2.036537	0.00115487049960551	0.08283	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.55	2.68	0.30839	2.724000	0.46956	1.029000	0.23465	-0.106000	0.15538	1.000000	0.71638	0.238000	0.23831	0.191000	0.21631	0.2184:0.0:0.7816:0.0	10.249	0.42538	645	0.63593	.;.	CD1B	Whole_Blood	SPTA1|SPTA1	Testis|Whole_Blood	rs3737515	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.3095	21434.11	139	chr1	158627717	.	G	C	21434.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-1.463e+00;DP=1772;ExcessHet=1.3217;FS=0.539;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=-2.220e-01;SOR=0.753	GT:AD:DP:GQ:PL	0/1:68,62:130:99:1670,0,1820	10	2	9	0
chr1	158668076	158668078	AAA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276726	Pyropoikilocytosis,_hereditary|Elliptocytosis|not_provided|Spherocytosis,_Recessive	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480|MedGen:CN517202|MedGen:CN239472	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261382	0.2751	0.1818	0.3209	0.3391	0.3421	0.2907	0.2962	0.1744	0.0001537	4	26028	rs140998442	0.2835	0.2762	0.2874	0.2795	0.3211	0.2827	0.2824	0.3164	0.3145	0.1824	0.3211	0.3004	0.3201	0.3428	0.3048	0.2886	0.2864	0.1756	0.3122	0.3051	0.3058	0.3190	0.4553	0.3097	0.3087	0.4394	0.4329	0.1942	0.4510	0.3960	0.3610	0.4553	0.4283	0.3444	0.3419	0.3398	0.2111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	15062.3	68	chr1	158668075	.	GAAA	GAA,GAAAA,G,GA	15062.3	.	AC=14,3,7,2;AF=0.333,0.071,0.167,0.048;AN=42;BaseQRankSum=-2.100e-02;DP=1517;ExcessHet=20.9642;FS=1.232;InbreedingCoeff=-0.6153;MLEAC=14,3,7,2;MLEAF=0.333,0.071,0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.409;SOR=0.800	GT:AD:DP:GQ:PL	1/3:1,19,0,22,6:51:99:1397,813,708,1179,708,1213,448,0,579,566,841,447,890,333,786	0	0	10	0
chr1	161209943	161209943	-	CCGG	intronic	NDUFS2	.	.	.	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	0	1521	1	0	0	1	0.000328623	.	.	277975	not_specified|Mitochondrial_complex_I_deficiency|not_provided	MedGen:CN169374|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	.	0.0009	0	0.0003	0	0	0.0010	0.0011	0.0021	0.0007633	118	154602	rs776704187	0.0007	0.0007	0.0006	0.0007	0.0013	0.0006	0.0006	0.0011	0.0011	0.0002	0.0006	0.0031	2.519e-05	7.493e-05	0.0009	0.0006	0.0007	0.0013	0.0008	0.0008	0.0007	0.0009	0.0034	0.0007	0.0006	0.0027	0.0024	4.816e-05	0	0.0034	0.0026	0	9.43e-05	0	0.0007	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1234.94	35	chr1	161209943	.	C	CCCGG	1234.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=828;ExcessHet=0.0000;FS=5.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-1.815e+00;SOR=1.395	GT:AD:DP:GQ:PL	0/1:56,34:90:99:1249,0,2249	20	0	1	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,14,8,0:29:7:.:.:358,0,162,157,7,386,362,207,384,587	3	0	13	0
chr1	168293284	168293284	-	GTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278196	Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_provided	Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,14,8,0:29:7:.:.:358,0,162,157,7,386,362,207,384,587	3	0	13	0
chr1	168293284	168293284	-	GTGTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277080	Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_provided	Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.0069	0.0016	0.0024	0	0.0029	0	0.0130	0.0005763	15	26028	rs746838916	0.0078	0.0121	0.0077	0.0078	0.0172	0.0076	0.0076	0.0141	0.0130	0.0092	0.0144	0.0060	0.0111	0.0017	0.0172	0.0073	0.0088	0.0108	0.0215	0.0223	0.0222	0.0208	0.0336	0.0208	0.0206	0.0318	0.0311	0.0336	0.0423	0.0224	0.0189	0.0191	0.0032	0.0270	0.0178	0.0223	0.0266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:7,14,8,0:29:7:.:.:358,0,162,157,7,386,362,207,384,587	3	0	13	0
chr1	169529737	169529737	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.A5290G:p.M1764V,	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	.	1	683	630	208	0	1046	0.433665	.	.	249501	Congenital_factor_V_deficiency|not_provided|not_specified|Thrombophilia_due_to_activated_protein_C_resistance	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.800	N	1.000	P	-0.345	N	-5.02	D	-0.434	T	0.433	T	0.037	-1.434	0.020	-2.86	-0.913	-2.414	3.252	0.230	.	0.2894	0.308706	0.3351	0.1905	0.5327	0.2606	0.2965	0.3211	0.3469	0.3980	0.331005	51174	154602	rs6030	0.3320	0.3320	0.3303	0.3337	0.5036	0.3312	0.3309	0.4981	0.4958	0.1908	0.5036	0.2433	0.2974	0.2961	0.3432	0.3294	0.3217	0.4015	0.2994	0.2996	0.2954	0.3036	0.4414	0.2971	0.2962	0.4325	0.4289	0.1962	0.1919	0.4414	0.2414	0.2702	0.2903	0.3129	0.3306	0.3275	0.4006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.799742	0.09333	N	0.908379	1	0.08975	P	-1.195	0.00846	N	-5.02	0.98562	D	0.77	0.01949	N	0.006	0.00044	-0.4336	0.70946	T	0.433	0.77400	T	9	0.00013938546	0.00010	T	.	.	.	0.230	0.53062	.	.	.	.	0.5774194888175482	0.57670	0.0874476088007	0.09862	0.202470511198	0.00532	T	0.012008	0.10625	T	-0.558879	0.00258	T	-0.431747	0.29737	T	0.00389668243981471	0.00041	T	0.0319468	0.00204	T	0.10963965	0.25921	0.15528889	0.36408	0.11500659	0.27143	0.10465255	0.25139	-1.936	0.02949	T	0.0630923633968402	0.01915	0.051	0.00195	B	.;.	.;.	-1.215408	0.00515	0.012	0.69920481567361925	0.09127	0.03239	0.08258	N	AEFGBCIJ	0.145810	0.26911	N	-1.46881193792389	0.02073	0.09117123	-1.39284912778787	0.03328	0.1549985	0.999997398089242	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.172119	0.04147	3	0.564101	0.26826	0	.	.	5.32	-2.86	0.05376	-2.274000	0.01245	-8.462000	0.00965	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0923:0.1961:0.2724:0.4392	3.252	0.06416	772	0.48957	.;.	ATP1B1	Testis	.	.	rs6030	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.2857	19684.36	33	chr1	169529737	.	T	C	19684.36	.	AC=12;AF=0.286;AN=42;BaseQRankSum=0.592;DP=1565;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=18.13;ReadPosRankSum=0.437;SOR=0.646	GT:AD:DP:GQ:PL	0/1:71,48:119:99:1111,0,1579	12	3	6	0
chr1	169542517	169542517	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.A2573G:p.K858R,	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	.	0	794	580	148	0	876	0.355519	.	.	249509	Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|not_provided|not_specified	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.0	B	0.635	N	1.000	P	-0.805	N	2.17	T	-0.910	T	0.005	T	0.022	-0.986	0.281	-1.7	-0.097	-0.454	5.162	0.009	.	0.2436	0.266773	0.2768	0.1782	0.4435	0.2189	0.2153	0.2598	0.2797	0.3462	0.26695	41271	154602	rs4524	0.2731	0.2732	0.2716	0.2747	0.4087	0.2724	0.2721	0.4038	0.4017	0.1804	0.4087	0.1760	0.2265	0.2171	0.2765	0.2718	0.2651	0.3467	0.2462	0.2463	0.2443	0.2481	0.3449	0.2441	0.2432	0.3341	0.3309	0.1831	0.1908	0.3418	0.1685	0.2342	0.2115	0.2381	0.2667	0.2614	0.3449	0.855	0.02705	T	0.847	0.03538	T	0.0	0.02946	B	0.0	0.01387	B	0.635169	0.10649	N	0.830320	1	0.08975	P	-1.355	0.00654	N	2.17	0.19020	T	0.21	0.04776	N	0.026	0.00527	-0.9096	0.46904	T	0.005	0.01615	T	9	0.00049877167	0.00011	T	.	.	.	0.009	0.00846	.	.	.	.	0.1337133431932104	0.13295	0.07127904727	0.07981	0.188595145941	0.00201	T	0.013326	0.11547	T	-0.869542	0.00001	T	-0.877993	0.00671	T	0.000714397847103574	0.00006	T	0.386661	0.09517	T	0.022049049	0.00842	0.030590214	0.01535	0.01725972	0.00258	0.02791734	0.00982	-3.171	0.12129	T	0.05318867320884815	0.01062	0.073	0.04477	B	.;.	.;.	-0.558016	0.01690	0.122	0.12338566367754079	0.00211	0.00494	0.02336	N	AEFBI	0.057701	0.10769	N	-1.69916646532579	0.00845	0.03654265	-1.64287359967973	0.01413	0.06388659	1.28884559717462E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.34	-1.7	0.07721	-0.613000	0.05705	-0.884000	0.07053	-1.357000	0.01185	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3402:0.1552:0.5046	5.162	0.14392	773	0.48803	.;.	.	.	.	.	rs4524	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.2143	30189.99	37	chr1	169542517	.	T	C	30189.99	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.620e-01;DP=2639;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=15.56;ReadPosRankSum=0.326;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:127,122:249:99:.:.:3183,0,3361	13	1	7	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	YES	207	250	453	612	0	1677	0.770326	.	.	278205	Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Age_related_macular_degeneration_4|Atypical_hemolytic-uremic_syndrome	MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	P	.	.	-0.03	T	-1.007	T	0.000	T	0.041	-2.252	0.004	-9.09	-4.010	-6.715	2.071	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	1	0	0.6429	62931.18	182	chr1	196690107	.	C	T	62931.18	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.049;DP=3170;ExcessHet=3.1640;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=27;MLEAF=0.643;MQ=59.99;MQRankSum=0.00;QD=20.84;ReadPosRankSum=-4.090e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:69,65:134:99:1707,0,1873	2	8	11	0
chr1	205211450	205211450	C	T	exonic	DSTYK	.	nonsynonymous SNV	DSTYK:NM_015375:exon1:c.G86A:p.R29Q	.	.	278	1240	3	1	0	5	0.00201207	.	.	75261	not_specified|Congenital_anomalies_of_kidney_and_urinary_tract_1|not_provided	MedGen:CN169374|Gene:100034704,MONDO:MONDO:0012561,MedGen:C1835826,OMIM:610805|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.998	D	0.986	D	0.000	D	1.000	D	1.3	L	-1.44	T	0.134	D	0.610	D	0.517	5.313	34	5.24	2.458	4.131	16.596	0.384	0.689281990408	.	0.000798722	0.0010	0	0.0004	0	0	0.0012	0.0077	0.0017	0.0005951	92	154602	rs200780796	0.0007	0.0006	0.0006	0.0007	0.0017	0.0006	0.0006	0.0015	0.0014	0.0001	0.0008	0.0089	0	0	0.0017	0.0004	0.0009	0.0017	0.0007	0.0007	0.0006	0.0008	0.0021	0.0006	0.0006	0.0015	0.0013	9.62e-05	0	0.0021	0.0092	0	0	0	0.0005	0.0005	0.0008	0.45	0.09374	T	0.364	0.17115	T	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	1.355	0.33814	L	-1.69	0.83072	D	-0.75	0.24676	N	0.556	0.81957	0.134	0.84769	D	0.610	0.86166	D	10	0.012831062	0.00274	T	0.689282	0.97439	D	0.384	0.70112	0.406	0.43902	0.82854224837	0.82691	0.5089995500452199	0.50821	0.623705127135	0.56599	0.886880040169	0.94866	D	0.012442	0.10938	T	-0.154096	0.27674	T	-0.00138888	0.70246	D	0.210075944662094	0.20957	T	0.879112	0.59504	D	0.45025098	0.64057	0.4489708	0.67923	0.37857646	0.59214	0.38503048	0.63429	-4.119	0.25848	T	.	.	0.260	0.49451	B	.;.	.;.	4.527918	0.71055	25.6	0.99902379961303411	0.97350	0.63219	0.32021	D	ALL	0.553080	0.56448	D	0.543073019713175	0.69661	5.388825	0.556095473171162	0.71820	5.713849	1.0	0.98316	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.24	5.24	0.72863	4.215000	0.58331	7.249000	0.57924	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	16.596	0.84648	420	0.81451	.;.	.	.	.	.	.	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	0.02381	1279.98	34	chr1	205211450	.	C	T	1279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.780e-01;DP=791;ExcessHet=0.0000;FS=2.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=-3.970e-01;SOR=0.426	GT:AD:DP:GQ:PL	0/1:41,53:94:99:1294,0,943	20	0	1	0
chr1	214642149	214642149	A	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon12:c.A3811G:p.K1271E,	Stromme syndrome, Autosomal recessive	.	432	1077	13	0	0	13	0.00599908	.	.	427696	CENPF-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.49	T	0.976	D	0.541	P	0.123	N	1.000	N	.	.	1.9	T	-1.086	T	0.035	T	0.148	0.280	5.517	3.92	0.763	1.450	7.288	0.079	0.0086182124351	0.0030	0.00119808	0.0027	0.0008	0.0014	0.0002	0.0009	0.0041	0.0033	0.0015	0.0028913	447	154602	rs62000407	0.0030	0.0030	0.0031	0.0030	0.0083	0.0030	0.0029	0.0064	0.0058	0.0004	0.0013	0.0010	5.04e-05	0.0010	0.0083	0.0036	0.0022	0.0014	0.0023	0.0023	0.0025	0.0021	0.0039	0.0021	0.0021	0.0035	0.0034	0.0008	0	0.0016	0.0020	0	0.0005	0.0102	0.0039	0.0038	0.0017	0.036	0.43393	D	0.411	0.14500	T	0.976	0.58310	D	0.541	0.48869	P	0.123087	0.18931	N	0.382752	1	0.08975	N	.	.	.	1.9	0.23486	T	-1.85	0.43334	N	0.202	0.22357	-1.0858	0.06263	T	0.035	0.15204	T	9	0.006287843	0.00142	T	0.008618	0.22779	T	0.079	0.23065	.	.	0.268211541103	0.26431	0.18739254633946212	0.18657	0.0769811076469	0.08643	0.264490783215	0.05437	T	0.022	0.17156	T	-0.547579	0.00302	T	-0.557831	0.16581	T	0.0198965651380359	0.00690	T	0.519248	0.16884	T	0.11722764	0.27639	0.13956138	0.33296	0.11722764	0.27639	0.13956138	0.33295	-5.465	0.41540	T	.	.	0.113	0.22208	B	.	.	1.242076	0.16382	12.50	0.97647392874809535	0.35114	0.25277	0.22650	N	AEFBCI	0.050955	0.08956	N	-0.270274547983208	0.30301	1.688297	-0.37274030841458	0.25812	1.421866	0.950660706911882	0.27909	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	3.92	0.44525	1.378000	0.33935	2.216000	0.31409	0.731000	0.85647	0.052000	0.21487	0.019000	0.20708	0.949000	0.49496	0.7069:0.1499:0.0:0.1432	7.288	0.25524	899	0.25060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1375.98	38	chr1	214642149	.	A	G	1375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.746e+00;DP=1384;ExcessHet=0.0000;FS=1.508;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.078;SOR=0.692	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1390,0,1962	20	0	1	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q,	.	YES	440	2	22	1058	0	2138	0.998133	.	.	1704217	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	0.484	N	1.000	P	-0.345	N	1.98	T	-1.012	T	0.000	T	0.024	1.017	9.155	-4.95	-0.777	-0.899	2.079	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	1.0	76821.81	101	chr1	226735804	.	G	T	76821.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.84;DP=2407;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=33.21;ReadPosRankSum=1.53;SOR=0.318	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3312,288,0	0	21	0	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	Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG|not_provided	MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622|MedGen:CN517202	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	7102.5	88	chr1	236897645	.	CT	C,CTT	7102.5	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=0.279;DP=1850;ExcessHet=6.4157;FS=0.544;InbreedingCoeff=-0.2872;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=-6.480e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:32,7,0:39:49:49,0,662,145,683,828	6	1	13	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|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	5237.92	24	chr1	237833281	.	G	GAA,GA	5237.92	.	AC=6,20;AF=0.150,0.500;AN=40;BaseQRankSum=0.164;DP=578;ExcessHet=1.5101;FS=1.093;InbreedingCoeff=-0.0690;MLEAC=6,21;MLEAF=0.150,0.525;MQ=60.00;MQRankSum=0.00;QD=16.63;ReadPosRankSum=0.147;SOR=0.801	GT:AD:DP:GQ:PL	0/1:6,1,0:7:15:15,0,198,33,201,234	2	0	2	1
chr1	241500603	241500604	GA	-	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	435	459	46	27	555	655	0.0982318	.	.	280521	Hereditary_leiomyomatosis_and_renal_cell_cancer|not_provided|Fumarase_deficiency|Hereditary_cancer-predisposing_syndrome|FH-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:C3661900|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1491361156	0.0408	0.0471	0.0403	0.0412	0.1123	0.0405	0.0404	0.1094	0.1083	0.1101	0.0807	0.0668	0.1123	0.0526	0.0602	0.0329	0.0476	0.0425	0.0220	0.0219	0.0220	0.0219	0.0720	0.0213	0.0210	0.0697	0.0687	0.0720	0.0012	0.0094	0.0024	0.0065	0.0031	0.0074	0.0030	0.0122	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11846.01	26	chr1	241500602	.	TGA	TGAGA,TGAGAGA,T,TGAGAGAGAGA,TGAGAGAGA,TGAGAGAGAGAGAGAGA	11846.01	.	AC=10,12,1,3,6,1;AF=0.250,0.300,0.025,0.075,0.150,0.025;AN=40;BaseQRankSum=0.270;DP=1010;ExcessHet=0.9430;FS=2.185;InbreedingCoeff=-0.1062;MLEAC=10,12,1,3,6,1;MLEAF=0.250,0.300,0.025,0.075,0.150,0.025;MQ=59.96;MQRankSum=0.00;QD=25.59;ReadPosRankSum=0.383;SOR=1.052	GT:AD:DP:GQ:PL	2/4:0,0,8,0,11,2,0:21:99:848,786,819,464,462,431,786,819,462,819,325,366,0,366,376,470,508,250,508,219,450,786,819,462,819,366,508,819	0	0	1	1
chr1	247444671	247444671	C	T	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_183395:exon7:c.C2513T:p.T838M	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	.	0	1502	18	2	0	22	0.00727032	.	.	231492	not_specified|not_provided|NLRP3-related_disorder|Autoinflammatory_syndrome|Cryopyrin_associated_periodic_syndrome|Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|Familial_cold_autoinflammatory_syndrome_1|Familial_amyloid_nephropathy_with_urticaria_AND_deafness	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.994	D	0.004	N	0.769	D	3.31	M	0.37	T	0.140	D	0.415	T	0.657	3.758	19.08	4.71	2.547	4.808	13.896	0.223	0.0559250876732	0.0007	0.00179712	0.0012	0	0.0027	0	0	0.0010	0.0011	0.0030	0.0011837	183	154602	rs139814109	0.0009	0.0009	0.0009	0.0010	0.0038	0.0009	0.0009	0.0035	0.0034	0.0001	0.0019	0.0033	7.557e-05	0.0001	0.0019	0.0007	0.0011	0.0038	0.0007	0.0007	0.0006	0.0008	0.0060	0.0006	0.0006	0.0043	0.0037	9.628e-05	0	0.0003	0.0040	0	0	0	0.0008	0.0014	0.0060	0.003	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.988	0.82059	D	0.004001	0.34245	N	0.135690	0.51581	0.34127	D	.	.	.	0.37	0.57729	T	-4.99	0.84387	D	0.499	0.56919	0.140	0.84880	D	0.415	0.76225	T	10	0.014665842	0.00308	T	0.055925	0.66415	D	0.223	0.52023	.	.	0.953123744604	0.95262	0.8017135601145453	0.80125	1.32499314031	0.83536	0.343625575304	0.16979	T	0.751276	0.93186	D	-0.21955	0.18055	T	-0.0889828	0.64239	T	0.0816429654366961	0.10196	T	0.879912	0.60954	D	0.33443165	0.55831	0.3183049	0.57799	0.3201693	0.54654	0.24169135	0.49571	-8.089	0.64720	D	.	.	0.327	0.57167	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.320669	0.66120	24.9	0.99909413192448038	0.97949	0.95640	0.65534	D	AEFBI	0.591703	0.58770	D	0.782536833620229	0.85002	8.448175	0.686207239297608	0.81330	7.501698	0.999999810104876	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.71	4.71	0.59010	5.410000	0.66123	.	.	0.589000	0.31548	0.999000	0.42656	0.999000	0.35428	0.648000	0.32638	0.0:1.0:0.0:0.0	13.896	0.63276	867	0.32089	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2419.98	36	chr1	247444671	.	C	T	2419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.845;DP=957;ExcessHet=0.0000;FS=1.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-2.570e-01;SOR=0.827	GT:AD:DP:GQ:PL	0/1:100,96:196:99:2434,0,2514	20	0	1	0
chr2	26519040	26519040	C	T	exonic	OTOF	.	synonymous SNV	OTOF:NM_001287489:exon4:c.G297A:p.T99T	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	.	0	1512	9	1	0	11	0.00362438	.	.	57376	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_9	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0040	0.0001	0.0003	0	0	4.325e-05	0.0031	0.0259	0.0027361	423	154602	rs397517941	0.0013	0.0013	0.0007	0.0019	0.0206	0.0013	0.0012	0.0198	0.0195	2.991e-05	9.017e-05	0	2.52e-05	0	0.0009	2.613e-05	0.0017	0.0206	0.0008	0.0008	0.0004	0.0011	0.0234	0.0006	0.0006	0.0199	0.0186	2.404e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	1052.98	34	chr2	26519040	.	C	T	1052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=879;ExcessHet=0.0000;FS=1.472;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.16;ReadPosRankSum=-2.088e+00;SOR=0.874	GT:AD:DP:GQ:PL	0/1:84,45:129:99:1067,0,2039	20	0	1	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I,	Cystinuria, Autosomal recessive, Autosomal dominant	YES	1	171	630	720	0	2070	0.858209	.	.	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.78	T	0.001	B	0.001	B	0.120	N	1.000	P	1.095	L	-4.41	D	-0.903	T	0.000	T	0.046	0.686	7.667	-1.37	0.140	-0.163	2.100	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.8333	74868.88	116	chr2	44320435	.	G	A	74868.88	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-1.187e+00;DP=2972;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=25.99;ReadPosRankSum=0.083;SOR=0.687	GT:AD:DP:GQ:PL	1/1:0,135:135:99:4524,405,0	0	14	7	0
chr2	47806752	47806753	TT	-	intronic	MSH6	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	94983	Breast_and/or_ovarian_cancer|Lynch_syndrome_5|not_specified|not_provided	MedGen:CN221562|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1323	0.1439	0.1002	0.1406	0.1805	0.1444	0.1260	0.0985	0.0002305	6	26028	rs1491083972	0.0558	0.0746	0.0554	0.0562	0.0568	0.0555	0.0553	0.0554	0.0552	0.0568	0.0478	0.0707	0.0549	0.0678	0.0488	0.0558	0.0550	0.0492	0.0039	0.0046	0.0038	0.0039	0.0069	0.0036	0.0035	0.0049	0.0042	0.0027	0	0.0027	0.0024	0.0029	0.0042	0	0.0048	0.0026	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8839.08	81	chr2	47806751	.	CTT	C,CT	8839.08	.	AC=3,20;AF=0.071,0.476;AN=42;BaseQRankSum=-5.280e-01;DP=1860;ExcessHet=36.0830;FS=0.544;InbreedingCoeff=-0.8261;MLEAC=2,20;MLEAF=0.048,0.476;MQ=59.99;MQRankSum=0.00;QD=7.04;ReadPosRankSum=0.160;SOR=0.758	GT:AD:DP:GQ:PL	0/2:24,8,17:49:99:330,170,848,0,332,373	0	0	1	0
chr2	69326244	69326245	AA	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	20	58	78	59	11	207	0.628205	.	.	287070	Congenital_Myasthenic_Syndrome,_Recessive|Congenital_myasthenic_syndrome_12|not_provided	MedGen:CN239337|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0895	0.1623	0.0441	0.2283	0.0324	0.0560	0.0745	0.1540	0.0003842	10	26028	rs201268947	0.0369	0.0687	0.0349	0.0389	0.1957	0.0366	0.0365	0.1919	0.1903	0.1245	0.0257	0.0432	0.1957	0.0199	0.0296	0.0216	0.0478	0.1207	0.0320	0.0320	0.0303	0.0338	0.1935	0.0312	0.0309	0.1832	0.1790	0.0674	0	0.0143	0.0117	0.1935	0.0014	0.0112	0.0030	0.0297	0.1004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	14896.37	76	chr2	69326243	.	GAA	GA,G,GAAA	14896.37	.	AC=23,2,1;AF=0.548,0.048,0.024;AN=42;BaseQRankSum=-8.000e-03;DP=1288;ExcessHet=10.5502;FS=0.000;InbreedingCoeff=-0.3473;MLEAC=22,2,1;MLEAF=0.524,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.00;SOR=0.666	GT:AD:DP:GQ:PL	0/1:3,16,0,0:19:22:370,0,22,379,70,450,379,70,450,450	1	5	12	0
chr2	71535087	71535087	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130455:exon14:c.A1354G:p.M452V	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	0	1508	14	0	0	14	0.00462046	0.0161	0.168	266446	Qualitative_or_quantitative_defects_of_dysferlin|Limb-girdle_muscular_dystrophy,_recessive|not_specified|not_provided|Miyoshi_myopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Miyoshi_muscular_dystrophy_1	MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN239352|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.42	B	0.205	B	0.000	N	0.656	D	0.995	L	-0.22	T	-0.735	T	0.135	T	0.243	2.282	13.59	3.64	0.919	4.521	9.494	0.097	0.0353071200105	0.0012	0.00139776	0.0013	0.0004	0.0011	0	0	0.0016	0.0022	0.0021	0.0012678	196	154602	rs141818764	0.0016	0.0016	0.0016	0.0016	0.0018	0.0015	0.0015	0.0017	0.0017	0.0002	0.0012	0.0020	0	0	0.0012	0.0018	0.0016	0.0016	0.0010	0.0010	0.0011	0.0009	0.0023	0.0009	0.0009	0.0013	0.0012	0.0003	0	0.0013	0.0023	0	0	0.0034	0.0015	0.0009	0.0023	0.037	0.43393	D	0.018	0.59732	D	0.001	0.35330	B	0.006	0.37080	B	0.000093	0.51296	N	0.204193	0.534562	0.33008	D	2.125	0.59049	M	-0.22	0.66474	T	-1.99	0.47175	N	0.302	0.44474	-0.7346	0.58730	T	0.135	0.44991	T	10	0.01796338	0.00387	T	0.035307	0.56258	D	0.097	0.27909	.	.	0.590700200879	0.58746	0.50391622055171	0.50313	0.152725938462	0.17232	0.393586605787	0.24173	T	0.376003	0.73949	T	-0.372563	0.03466	T	-0.321167	0.42448	T	0.028368233790925	0.01742	T	0.817418	0.51794	T	0.51351404	0.67884	0.5371858	0.73255	0.585124	0.71888	0.5802731	0.75674	-7.506	0.62033	D	0.187273842424892	0.24411	0.082	0.25882	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.221859	0.43898	21.8	0.97456062147104838	0.34058	0.92784	0.56537	D	AEFBI	0.753686	0.69379	D	-0.187677957809644	0.33646	1.911275	-0.0341875693923052	0.38181	2.245904	0.999990054801985	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.84	3.64	0.40864	4.888000	0.62855	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.9117:0.0:0.0883:0.0	9.494	0.38143	530	0.73653	.;.;.;.;C2 domain|C2 domain|C2 domain|Ferlin, third C2 domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2180.98	34	chr2	71535087	.	A	G	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.370e-01;DP=911;ExcessHet=0.0000;FS=1.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.732;SOR=0.743	GT:AD:DP:GQ:PL	0/1:129,90:219:99:2195,0,3498	20	0	1	0
chr2	71611531	71611531	G	A	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon37:c.G4030A:p.V1344M	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	274011	Qualitative_or_quantitative_defects_of_dysferlin|not_provided	MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.944	D	0.001	D	0.596	N	1.7	L	-1.64	D	0.116	D	0.584	D	0.5	3.054	16.19	4.65	2.623	0.451	8.921	0.337	0.0453792384051	.	.	3.306e-05	0.0003	0	0	0	0	0	6.064e-05	2.59e-05	4	154602	rs760627822	9.577e-06	9.577e-06	5.445e-06	1.375e-05	0.0002	5.56e-06	4.35e-06	7.712e-05	5.305e-05	0.0002	0	0	0	0	0	2.698e-06	3.311e-05	3.478e-05	9.857e-05	9.85e-05	0.0001	9.417e-05	0.0003	6.007e-05	4.88e-05	0.0002	0.0002	0.0003	0	6.543e-05	0	0	0	0	0	0	0	0.03	0.47745	D	0.121	0.35970	T	0.773	0.73220	P	0.684	0.68059	P	0.000687	0.42383	D	0.213647	0.596244	0.30978	N	1.735	0.44892	L	-1.64	0.82533	D	-1.16	0.31170	N	0.343	0.38438	0.116	0.84467	D	0.584	0.85065	D	10	0.10851392	0.20203	T	0.045379	0.61950	D	0.337	0.65913	0.355	0.35571	0.708104668759	0.70556	0.26632240090384257	0.26545	0.317531606401	0.33995	0.375653922558	0.21639	T	0.328518	0.69892	T	-0.172646	0.24836	T	-0.169614	0.57478	T	0.0708741498580236	0.08773	T	0.949805	0.86758	D	0.04992539	0.08942	0.06979601	0.14751	0.04992539	0.08941	0.06979601	0.14750	-7.092	0.54760	T	0.15796580943923333	0.19110	0.121	0.27403	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.786829	0.36622	20.3	0.99870659767479808	0.94815	0.28211	0.23491	N	AEFDBI	0.222288	0.34681	N	0.0899631071307268	0.45997	2.84692	0.0508283679642014	0.42112	2.541525	0.999675964918767	0.41644	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.54	4.65	0.57626	0.475000	0.21874	.	.	0.676000	0.76740	0.058000	0.21700	0.917000	0.28245	0.742000	0.35507	0.1689:0.0:0.8311:0.0	8.921	0.34772	428	0.80967	.;.;.;.;C2 domain|C2 domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2483.98	35	chr2	71611531	.	G	A	2483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e-01;DP=998;ExcessHet=0.0000;FS=0.517;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=1.08;SOR=0.623	GT:AD:DP:GQ:PL	0/1:103,101:204:99:2498,0,2584	20	0	1	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	YES	425	1072	24	1	0	26	0.0119816	1.0000	0.938	516567	not_provided|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|Immunodeficiency_95|IFIH1-related_disorder	MedGen:C3661900|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.460	23.8	4.74	2.331	7.182	18.077	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2711.11	33	chr2	162268086	.	C	T	2711.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.375;DP=809;ExcessHet=0.1072;FS=2.223;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.43;ReadPosRankSum=-1.350e-01;SOR=0.498	GT:AD:DP:GQ:PL	0/1:30,59:89:99:1613,0,765	19	0	2	0
chr2	165917310	165917310	G	A	exonic	TTC21B	.	nonsynonymous SNV	TTC21B:NM_024753:exon14:c.C1846T:p.R616C,	Nephronophthisis 12, Autosomal recessive, Autosomal dominant;Short-rib thoracic dysplasia 4 with or without polydactyly, Autosomal recessive	.	8	1446	61	7	0	75	0.0252781	.	.	136097	Connective_tissue_disorder|Asphyxiating_thoracic_dystrophy_4|not_specified|not_provided|Nephronophthisis_12|Nephronophthisis|Jeune_thoracic_dystrophy	MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0013441,MedGen:C3151185,OMIM:613819,Orphanet:474|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013442,MedGen:C3151186,OMIM:613820,Orphanet:655|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.203	B	0.027	B	0.000	D	1.000	D	1.72	L	-0.97	T	-0.637	T	0.221	T	0.267	1.045	9.269	4.87	1.446	4.840	9.829	0.302	.	0.0017	0.00339457	0.0043	0.0002	0.0035	0	0.0008	0.0033	0.0077	0.0149	0.0038292	592	154602	rs139441507	0.0030	0.0030	0.0025	0.0035	0.0184	0.0029	0.0029	0.0155	0.0145	0.0004	0.0039	0.0095	0	0.0005	0.0184	0.0020	0.0043	0.0142	0.0028	0.0028	0.0027	0.0028	0.0147	0.0026	0.0025	0.0120	0.0110	0.0004	0	0.0049	0.0101	0	0.0005	0.0204	0.0030	0.0047	0.0147	0.064	0.36509	T	0.05	0.48080	T	0.203	0.29776	B	0.027	0.21085	B	0.000000	0.84330	D	0.049682	1	0.81001	D	2.175	0.60977	M	-0.97	0.75670	T	-5.28	0.84246	D	0.349	0.39052	-0.6367	0.63286	T	0.221	0.58421	T	10	0.00830844	0.00188	T	.	.	.	0.302	0.62290	.	.	0.551303448039	0.54786	0.38577714615857134	0.38492	0.0426891439191	0.04603	0.430218935013	0.29238	T	0.48909	0.81446	T	-0.35845	0.04218	T	-0.275341	0.47279	T	0.0938033293110174	0.11661	T	0.822518	0.48242	T	0.30039772	0.52941	0.2362269	0.48888	0.30039772	0.52941	0.2362269	0.48887	-10.082	0.74401	D	0.22474748770393416	0.30356	0.120	0.24867	B	.	.	3.004601	0.40157	21.1	0.96445822544063409	0.29844	0.92989	0.57045	D	AEFBI	0.403792	0.47734	N	-0.211373374546572	0.32666	1.844739	-0.109284935156841	0.35015	2.020792	0.903024380874154	0.26142	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	4.87	0.62877	4.878000	0.62786	9.834000	0.81880	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.121000	0.19209	0.0699:0.0:0.7919:0.1382	9.829	0.40098	490	0.76723	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	750.98	34	chr2	165917310	.	G	A	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=0.277;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,31:68:99:765,0,873	20	0	1	0
chr2	169289151	169289151	C	T	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	0	1386	130	6	0	142	0.0487303	0	0.008	134991	not_specified|Donnai-Barrow_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.0117812	0.0116	0.0015	0.0086	0.0001	0.0021	0.0088	0.0166	0.0410	0.0107955	1669	154602	rs144147038	0.0097	0.0097	0.0085	0.0109	0.0572	0.0096	0.0095	0.0521	0.0502	0.0016	0.0078	0.0287	2.52e-05	0.0022	0.0572	0.0076	0.0120	0.0401	0.0073	0.0073	0.0066	0.0080	0.0360	0.0069	0.0068	0.0316	0.0299	0.0015	0	0.0076	0.0311	0.0002	0.0030	0.0544	0.0085	0.0099	0.0360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	4938.44	84	chr2	169289151	.	C	T	4938.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=1.21;DP=989;ExcessHet=1.1607;FS=0.539;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=0.273;SOR=0.625	GT:AD:DP:GQ:PL	0/1:33,25:58:99:632,0,819	16	0	5	0
chr2	178072267	178072267	A	-	exonic	PDE11A	.	frameshift deletion	PDE11A:NM_016953:exon1:c.171delT:p.T58Pfs*41,	Pigmented nodular adrenocortical disease, primary, 2, Autosomal dominant	.	0	1435	82	5	0	92	0.0310601	.	.	205134	Pigmented_nodular_adrenocortical_disease,_primary,_2|not_specified|PDE11A-related_disorder|Bardet-Biedl_syndrome_16|not_provided	MONDO:MONDO:0012505,MedGen:C1864851,OMIM:610475,Orphanet:189439|MedGen:CN169374|.|MONDO:MONDO:0014444,MedGen:C3889474,OMIM:615993,Orphanet:110|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00938498	0.0065	0.0003	0.0005	0.0002	0.0002	0.0014	0.0070	0.0396	0.0004226	11	26028	rs529789124	0.0031	0.0031	0.0019	0.0044	0.0394	0.0031	0.0030	0.0383	0.0378	0.0002	0.0004	0.0093	5.039e-05	1.873e-05	0.0196	0.0005	0.0041	0.0394	0.0018	0.0018	0.0012	0.0025	0.0410	0.0017	0.0016	0.0363	0.0345	0.0001	0	0.0009	0.0069	0.0002	0	0.0034	0.0005	0.0024	0.0410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3666.07	35	chr2	178072266	.	TA	T	3666.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.58;DP=991;ExcessHet=0.1072;FS=3.898;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.46;ReadPosRankSum=0.744;SOR=0.482	GT:AD:DP:GQ:PL	0/1:64,65:129:99:2172,0,2193	19	0	2	0
chr2	178533468	178533468	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G75952C:p.E25318Q	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	1509	13	0	0	13	0.00428901	.	.	136136	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|not_provided|Cardiovascular_phenotype|Tip-toe_gait	MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MedGen:CN230736|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.979	D	.	.	1.000	D	1.07	L	-0.31	T	-0.325	T	0.312	T	0.342	4.072	20.9	5.74	2.712	7.794	19.503	0.312	.	0.0006	0.00219649	0.0033	0	0.0004	0	0.0251	0.0015	0.0122	0.0074	0.0028784	445	154602	rs148525155	0.0024	0.0024	0.0023	0.0024	0.0072	0.0023	0.0023	0.0068	0.0066	0.0002	0.0001	0	0	0.0266	0.0024	0.0011	0.0016	0.0072	0.0027	0.0027	0.0018	0.0037	0.0058	0.0025	0.0024	0.0041	0.0036	9.621e-05	0	0.0001	0	0	0.0268	0	0.0014	0.0014	0.0058	0.04	0.42199	D	.	.	.	0.999	0.77913	D	0.979	0.74454	D	.	.	.	.	0.999998	0.58761	D	1.685	0.43254	L	-0.31	0.68030	T	-2.02	0.48184	N	0.345	0.68429	-0.3252	0.74275	T	0.312	0.68192	T	9	0.00589779	0.00132	T	.	.	.	0.312	0.63375	.	.	0.384086055536	0.38021	.	.	0.442136844735	0.44188	0.601511120796	0.53117	T	.	.	.	-0.326447	0.06384	T	-0.23769	0.51023	T	0.0364751789503253	0.03063	T	0.945505	0.81406	D	.	.	.	.	.	.	.	.	-5.449	0.41388	T	.	.	0.757	0.75352	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.830134	0.37305	20.5	0.95094131028470685	0.26161	0.97403	0.74527	D	AEFBCI	.	.	.	0.734428824412604	0.81890	7.629033	0.770561855878795	0.87685	9.307701	1.0	0.98316	0.554377	0.28877	0	0.636889	0.57051	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.74	5.74	0.90070	7.882000	0.85748	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.503	0.95094	369	0.84396	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2945.98	114	chr2	178533468	.	C	G	2945.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.056;DP=2141;ExcessHet=0.0000;FS=0.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.84;ReadPosRankSum=0.296;SOR=0.727	GT:AD:DP:GQ:PL	0/1:79,107:186:99:2960,0,1983	20	0	1	0
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|not_specified|Hypertrophic_cardiomyopathy	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1402.97	160	chr2	178535858	.	GA	G	1402.97	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.350e-01;DP=3018;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.4826;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=0.92;ReadPosRankSum=0.092;SOR=0.674	GT:AD:DP:GQ:PL	0/1:71,12:96:49:49,0,1636	7	0	14	0
chr2	178546425	178546425	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon170:c.G67711A:p.D22571N	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	513249	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.993	D	0.911	D	.	.	1.000	D	1.135	L	-0.18	T	-0.396	T	0.340	T	0.12	4.889	28.1	5.81	2.738	7.818	20.080	0.363	0.0257388030203	.	.	0.0002	0	0	0	0	0	0	0.0015	0.0001552	24	154602	rs776793953	8.074e-05	8.072e-05	4.085e-05	0.0001	0.0013	6.869e-05	6.422e-05	0.0011	0.0010	0	0	0	0	0	0.0002	8.995e-07	8.283e-05	0.0013	1.97e-05	1.969e-05	1.285e-05	2.687e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.057	0.37966	T	.	.	.	0.993	0.65571	D	0.911	0.64720	D	.	.	.	.	1	0.81001	D	1.08	0.27187	L	-0.18	0.65747	T	-3.32	0.69593	D	0.289	0.53181	-0.3963	0.72144	T	0.340	0.70624	T	9	0.07559073	0.11701	T	0.025739	0.48694	D	0.363	0.68319	0.476	0.55342	0.371344866733	0.36741	.	.	0.397505575449	0.40843	0.765936374664	0.76815	T	.	.	.	-0.403193	0.02206	T	-0.392469	0.34263	T	0.190041470599687	0.19847	T	0.914509	0.69499	D	.	.	.	.	.	.	.	.	-4.888	0.35600	T	.	.	0.273	0.50690	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.350464	0.46210	22.3	0.98117374264781754	0.38407	0.98696	0.85696	D	AEFBI	0.919675	0.89054	D	0.741570041224039	0.82354	7.742073	0.783419805281473	0.88617	9.650064	0.999999999999978	0.74766	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	5.81	5.81	0.92413	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.080	0.97771	483	0.77230	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2424.98	35	chr2	178546425	.	C	T	2424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.59;DP=1027;ExcessHet=0.0000;FS=0.544;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=3.28;SOR=0.761	GT:AD:DP:GQ:PL	0/1:97,87:184:99:2439,0,2632	20	0	1	0
chr2	178647041	178647044	TATA	-	intronic	TTN	.	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	13	40	104	7	62	180	0.59596	.	.	189623	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0482	0.1273	0.1042	0.0096	0.0474	0.0241	0	0.0491	0.0016235	251	154602	rs1459735441	0.0244	0.0273	0.0245	0.0244	0.0813	0.0241	0.0239	0.0771	0.0754	0.0813	0.0606	0.0341	0.0286	0.0250	0.0346	0.0212	0.0322	0.0376	0.0001	0.0008	0.0001	0.0002	0.0005	9.801e-05	8.172e-05	9.488e-05	5.662e-05	7.556e-05	0	0.0003	0	0	0.0009	0	3.086e-05	0.0010	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5500.35	31	chr2	178647040	.	GTATA	GTA,G,GTATATA	5500.35	.	AC=17,2,4;AF=0.405,0.048,0.095;AN=42;BaseQRankSum=0.672;DP=552;ExcessHet=21.3848;FS=6.022;InbreedingCoeff=-0.6389;MLEAC=17,2,4;MLEAF=0.405,0.048,0.095;MQ=59.99;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-3.040e-01;SOR=1.127	GT:AD:DP:GQ:PL	0/1:1,5,0,0:6:17:144,0,17,147,32,180,147,32,180,180	1	0	14	0
chr2	178713271	178713271	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon90:c.A23131G:p.I7711V	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	.	.	136110	Cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided|Tip-toe_gait	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.677	P	0.322	B	.	.	1.000	D	0.32	N	-0.22	T	-0.677	T	0.189	T	0.313	1.669	11.54	5.96	2.285	2.089	16.448	0.094	.	0.0005	0.00219649	0.0043	0	0.0007	0	0.0309	0.0018	0.0173	0.0089	0.0027813	430	154602	rs72648994	0.0022	0.0022	0.0021	0.0023	0.0072	0.0021	0.0021	0.0067	0.0065	0.0002	0.0001	0	0	0.0267	0.0026	0.0010	0.0014	0.0072	0.0027	0.0027	0.0018	0.0037	0.0056	0.0025	0.0024	0.0040	0.0034	9.624e-05	0	0.0002	0	0	0.0270	0	0.0014	0.0005	0.0056	0.368	0.11623	T	.	.	.	0.677	0.41330	P	0.322	0.41795	B	.	.	.	.	1	0.81001	D	.	.	.	-0.22	0.66474	T	-0.56	0.17003	N	0.331	0.38438	-0.6768	0.61520	T	0.189	0.54034	T	9	0.005237788	0.00114	T	.	.	.	0.094	0.27141	.	.	0.367042808489	0.36316	.	.	0.152078820039	0.17161	0.431877821684	0.29465	T	.	.	.	-0.401615	0.02260	T	-0.345524	0.39717	T	0.0411331792504099	0.03896	T	0.756924	0.45238	T	.	.	.	.	.	.	.	.	-7.437	0.59140	T	.	.	0.115	0.23113	B	.;.;.;.	.;.;.;.	2.860394	0.37796	20.6	0.95139486522403538	0.26260	0.92404	0.55634	D	AEFBHI	0.610370	0.59923	D	0.171333571085859	0.49825	3.178797	0.314749979411708	0.56405	3.803849	0.909681063613697	0.26318	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.687789	0.68303	1	.	.	5.96	5.96	0.96695	2.053000	0.40951	.	.	0.665000	0.62972	0.982000	0.35529	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.448	0.83801	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2912.98	44	chr2	178713271	.	T	C	2912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=1111;ExcessHet=0.0000;FS=8.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=0.589;SOR=1.211	GT:AD:DP:GQ:PL	0/1:146,113:259:99:2927,0,3814	20	0	1	0
chr2	208124183	208124183	C	A	exonic	CRYGD	.	nonsynonymous SNV	CRYGD:NM_006891:exon2:c.G181T:p.G61C,	Cataract 4, multiple types, Autosomal dominant	.	1	1513	7	1	0	9	0.0029654	.	.	612375	High_myopia|Aculeiform_cataract|not_specified	Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183|Human_Phenotype_Ontology:HP:0010926,MedGen:C1861832|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	U	1.000	D	4.255	H	-3.34	D	1.083	D	0.934	D	0.959	3.238	16.85	4.35	2.245	3.732	14.400	0.890	0.480295520724	.	0.000399361	0.0004	0.0022	0.0007	0.0001	0.0002	9.508e-05	0.0012	0.0007	0.0003687	57	154602	rs150857132	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0003	0.0015	0.0014	0.0019	0.0009	3.828e-05	0.0006	3.786e-05	0.0009	0.0002	0.0005	0.0008	0.0009	0.0009	0.0009	0.0009	0.0020	0.0008	0.0007	0.0017	0.0015	0.0020	0	0.0017	0	0.0017	0	0	0.0001	0.0005	0.0012	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.335	0.98404	H	-3.34	0.93975	D	-8.62	0.97496	D	0.894	0.89353	1.083	0.98974	D	0.934	0.97839	D	10	0.8649771	0.85736	D	0.480296	0.94830	D	0.890	0.96836	.	.	0.971415806667	0.97110	0.8639262326446062	0.86356	0.91937406981	0.71397	0.489978194237	0.37435	T	0.874574	0.97319	D	0.188978	0.72870	D	0.493129	0.94469	D	0.223583431498506	0.21641	T	.	.	.	0.9839782	0.99398	0.9222859	0.96558	0.9839782	0.99398	0.9222859	0.96559	-12.919	0.89026	D	.	.	0.847	0.79595	P	.	.	3.498325	0.48928	22.7	0.99745039141813074	0.83778	0.98347	0.81862	D	AEFDBI	0.789676	0.71880	D	0.698254764658041	0.79516	7.094465	0.508805880472586	0.68580	5.239877	0.999999999714344	0.74766	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.35	4.35	0.51454	3.938000	0.56295	1.790000	0.28791	0.469000	0.21855	0.986000	0.36153	0.968000	0.29604	0.037000	0.13953	0.0:1.0:0.0:0.0	14.400	0.66603	870	0.31527	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1776.11	34	chr2	208124183	.	C	A	1776.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.93;DP=837;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.24;MQRankSum=-3.761e+00;QD=10.45;ReadPosRankSum=0.139;SOR=0.731	GT:AD:DP:GQ:PL	0/1:57,40:97:99:1182,0,1507	19	0	2	0
chr2	227104056	227104056	A	-	intronic	COL4A4	.	.	.	Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, familial benign (3)	.	5	1455	55	0	7	62	0.0185497	.	.	920171	not_provided|Benign_familial_hematuria|Alport_syndrome|COL4A4-related_disorder	MedGen:C3661900|MONDO:MONDO:0957317,MedGen:C0241908,OMIM:PS141200|MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0276	0.0198	0.0330	0.0220	0.0066	0.0292	0.0288	0.0353	0.0247409	3825	154602	rs750699545	0.0048	0.0423	0.0049	0.0047	0.0068	0.0047	0.0046	0.0063	0.0061	0.0051	0.0060	0.0031	0.0017	0.0051	0.0037	0.0047	0.0047	0.0068	0.0002	0.0008	0.0002	0.0002	0.0002	0.0001	0.0001	8.154e-05	6.155e-05	0.0002	0	0.0001	0	0.0002	0.0006	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	67.8	37	chr2	227104055	.	TA	T	67.8	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.20;DP=628;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0765;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=1.66;SOR=0.595	GT:AD:DP:GQ:PL	0/1:30,4:34:13:13,0,749	18	0	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	not_specified|Fanconi_anemia|Fanconi_anemia_complementation_group_A|Hereditary_breast_ovarian_cancer_syndrome|not_provided|Fanconi_anemia_complementation_group_D2	MedGen:CN169374|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|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	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	310.62	93	chr3	10064724	.	C	T	310.62	.	AC=5;AF=0.125;AN=40;BaseQRankSum=3.12;DP=1039;ExcessHet=1.1607;FS=12.705;InbreedingCoeff=-0.1383;MLEAC=4;MLEAF=0.100;MQ=57.57;MQRankSum=-7.904e+00;QD=0.88;ReadPosRankSum=-7.760e-01;SOR=1.641	GT:AD:DP:GQ:PL	0/1:45,7:52:63:63,0,1235	15	0	5	1
chr3	11358545	11358545	T	C	exonic	ATG7	.	nonsynonymous SNV	ATG7:NM_001144912:exon12:c.T1295C:p.V432A	.	YES	427	967	124	4	0	132	0.0638916	.	.	1668940	NAFLD1|Spinocerebellar_ataxia,_autosomal_recessive_31	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MONDO:MONDO:0030323,MedGen:C5543627,OMIM:619422	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.794	P	0.549	P	0.018	N	0.994	N	2.625	M	0.52	T	-0.848	T	0.065	T	0.277	4.639	25.4	5.79	2.208	7.527	16.122	0.227	.	0.0424	0.0299521	0.0326	0.0476	0.0223	0.0002	0.0301	0.0341	0.0275	0.0428	0.0325804	5037	154602	rs36117895	0.0350	0.0350	0.0343	0.0356	0.0680	0.0347	0.0346	0.0624	0.0602	0.0534	0.0251	0.0302	5.038e-05	0.0249	0.0680	0.0359	0.0360	0.0418	0.0383	0.0384	0.0389	0.0377	0.0509	0.0375	0.0372	0.0491	0.0484	0.0509	0.1140	0.0354	0.0282	0.0002	0.0234	0.0374	0.0359	0.0507	0.0344	0.017	0.51248	D	0.02	0.76473	D	0.386	0.44757	B	0.184	0.49194	B	0.017610	0.27680	N	0.411116	0.994457	0.23514	N	3.11	0.87757	M	0.52	0.55266	T	-3.8	0.71762	D	0.367	0.41261	-0.8480	0.52106	T	0.065	0.26807	T	10	0.0064888	0.00147	T	.	.	.	0.227	0.52620	.	.	.	.	0.8308755158250807	0.83046	0.776489147222	0.65059	0.280699789524	0.07590	T	0.526577	0.83540	D	-0.397403	0.02408	T	-0.305633	0.44127	T	0.0560138831240717	0.06526	T	0.505249	0.16214	T	0.572433	0.71194	0.52844167	0.72754	0.572433	0.71195	0.52844167	0.72755	-11.564	0.84047	D	.	.	0.499	0.67492	A	.;.;.	.;.;.	3.980175	0.58499	24.0	0.99846678686946244	0.92663	0.99383	0.95317	D	AEFDBI	0.797792	0.72452	D	0.505377523528007	0.67409	5.077558	0.526737595570002	0.69796	5.411632	0.999999999999851	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	7.510000	0.80594	4.201000	0.42469	0.665000	0.62972	0.989000	0.36753	0.998000	0.33993	0.899000	0.43558	0.0:0.0:0.0:1.0	16.122	0.81179	660	0.61921	.;.;THIF-type NAD/FAD binding fold	ATG7|ATG7|ATG7|ATG7	Cells_Cultured_fibroblasts|Esophagus_Mucosa|Muscle_Skeletal|Thyroid	.	.	rs36117895	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	0.02381	956.98	35	chr3	11358545	.	T	C	956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.680e-01;DP=772;ExcessHet=0.0000;FS=2.756;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=0.192;SOR=0.604	GT:AD:DP:GQ:PL	0/1:50,42:92:99:971,0,1287	20	0	1	0
chr3	15645186	15645186	G	C	exonic	BTD	.	nonsynonymous SNV	BTD:NM_001281723:exon4:c.G1270C:p.D424H	Biotinidase deficiency, Autosomal recessive	YES	2	1418	95	7	0	109	0.0370119	.	.	16939	Biotinidase_deficiency|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260,Orphanet:79241|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.987	D	0.012	N	0.992	A	2.99	M	-3.72	D	0.464	D	0.757	D	0.817	3.005	16.02	3.8	0.743	3.159	12.205	0.769	.	0.0301	0.0185703	0.0317	0.0064	0.0152	0.0001	0.0540	0.0394	0.0352	0.0353	0.0314679	4865	154602	rs13078881	0.0390	0.0390	0.0391	0.0389	0.0420	0.0387	0.0386	0.0417	0.0415	0.0055	0.0189	0.0329	0.0002	0.0525	0.0205	0.0420	0.0385	0.0371	0.0294	0.0294	0.0284	0.0305	0.0403	0.0287	0.0284	0.0391	0.0386	0.0081	0	0.0287	0.0297	0.0002	0.0553	0.0408	0.0403	0.0350	0.0377	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.011652	0.29451	N	0.392353	0.991903	0.41504	A	3.055	0.86842	M	-3.72	0.95422	D	-5.48	0.85692	D	0.149	0.15187	0.464	0.90040	D	0.757	0.91710	D	9	0.01670149	0.00353	T	.	.	.	0.769	0.92212	.	.	.	.	0.8205354657431334	0.82010	0.109977912517	0.12399	0.437338232994	0.30213	T	0.892705	0.97833	D	0.00674126	0.52581	T	0.269042	0.86523	D	0.0872976775988275	0.10895	T	0.910909	0.68443	D	0.3162185	0.54318	0.4804979	0.69913	0.32418567	0.54991	0.41853052	0.65874	-8.47	0.64230	D	.	.	0.294	0.52508	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.641328	0.51634	23.1	0.99037496549655568	0.50939	0.93213	0.57620	D	AEFBI	0.527041	0.54914	D	0.306778470298634	0.56495	3.81437	0.17854025293852	0.48673	3.080047	0.999993304002011	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.678554	0.66404	0	.	.	5.58	3.8	0.42887	3.238000	0.51051	4.432000	0.43354	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.425000	0.27339	0.1379:0.0:0.8621:0.0	12.205	0.53657	498	0.76166	.;.;.;.;.;.;.	EAF1-AS1	Testis	.	.	rs13078881	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5646.68	39	chr3	15645186	.	G	C	5646.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-7.290e-01;DP=1061;ExcessHet=0.3300;FS=0.363;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=1.25;SOR=0.663	GT:AD:DP:GQ:PL	0/1:80,73:153:99:2170,0,2205	18	0	3	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	.	335	305	451	409	22	1291	0.675359	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	7075.96	9	chr3	27721936	.	G	GCGGCGC,GCGC	7075.96	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-5.120e-01;DP=481;ExcessHet=3.4384;FS=3.062;InbreedingCoeff=-0.1455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=22.18;ReadPosRankSum=-4.110e-01;SOR=0.540	GT:AD:DP:GQ:PL	1/1:0,19,0:19:57:813,57,0,814,57,814	5	3	12	0
chr3	38597917	38597917	G	T	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon14:c.C2074A:p.Q692K	Atrial fibrillation, familial, 10, Autosomal dominant;Brugada syndrome 1, Autosomal dominant;Cardiomyopathy, dilated, 1E, Autosomal dominant;Heart block, nonprogressive, Autosomal dominant;Heart block, progressive, type IA, Autosomal dominant;Long QT syndrome-3, Autosomal dominant;Sick sinus syndrome 1, Autosomal recessive;Ventricular fibrillation, familial, 1	.	1	1511	10	0	0	10	0.00329815	.	.	78607	Cardiovascular_phenotype|Brugada_syndrome_1|not_provided|Long_QT_syndrome_3|Dilated_cardiomyopathy_1E|Ventricular_fibrillation,_paroxysmal_familial,_type_1|Cardiac_arrhythmia|Brugada_syndrome|Progressive_familial_heart_block,_type_1A|Sick_sinus_syndrome_1|Long_QT_syndrome|not_specified|Cardiomyopathy	MedGen:CN230736|MONDO:MONDO:0011001,MedGen:C4551804,OMIM:601144,Orphanet:130|MedGen:C3661900|MONDO:MONDO:0011377,MedGen:C1859062,OMIM:603830,Orphanet:101016,Orphanet:768|MONDO:MONDO:0011003,MedGen:C1832680,OMIM:601154,Orphanet:154|MONDO:MONDO:0011376,MedGen:C2751898,OMIM:603829,Orphanet:228140|EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MONDO:MONDO:0007240,MedGen:C1879286,OMIM:113900,Orphanet:871|MONDO:MONDO:0024562,MedGen:C1837845,OMIM:608567,Orphanet:166282|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.002	B	0.372	N	0.958	N	1.245	L	-3.68	D	0.062	D	0.746	D	0.711	1.417	10.67	1.95	0.211	-0.035	11.668	0.538	0.312933388748	0.0002	0.000199681	0.0003	0	0.0003	0	0	0.0005	0	0	0.000304	47	154602	rs45553235	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0	0.0006	0.0026	0	1.873e-05	0.0014	0.0002	0.0005	6.956e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0	0	0.0003	0.0020	0	0	0.0102	0.0002	0.0009	0.0002	0.065	0.36310	T	0.677	0.06166	T	0.0	0.02946	B	0.0	0.06944	B	0.371739	0.13517	N	0.715661	0.957677	0.26253	N	0.71	0.18616	N	-3.68	0.95595	D	-1.11	0.33401	N	0.208	0.32481	0.062	0.83463	D	0.746	0.91316	D	10	0.042114347	0.02930	T	0.312933	0.91241	D	0.538	0.80664	.	.	0.976690773532	0.97644	0.8978174920946688	0.89752	0.444491301545	0.44356	0.403675973415	0.25581	T	0.429258	0.77812	T	-0.0222164	0.48538	T	0.0774827	0.75409	D	0.00775337267787807	0.00091	T	0.775922	0.40781	T	0.081142776	0.18629	0.10284355	0.24660	0.08313185	0.19182	0.11785347	0.28448	-6.135	0.47395	T	0.12970477601987612	0.13575	0.096	0.15251	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.643069	0.20970	14.99	0.93879375496908657	0.23895	0.68074	0.33666	D	AEFBI	0.316019	0.42043	N	-0.432132237670402	0.24351	1.314171	-0.33166829328936	0.27082	1.500316	0.145371832945725	0.17348	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.9	1.95	0.25130	-0.073000	0.11428	0.011000	0.13441	0.618000	0.50648	0.853000	0.30494	0.040000	0.21562	0.878000	0.41950	0.0:0.3911:0.4871:0.1217	11.668	0.50649	604	0.67577	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	2382.98	34	chr3	38597917	.	G	T	2382.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.449;DP=900;ExcessHet=0.0000;FS=1.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=-2.330e-01;SOR=0.587	GT:AD:DP:GQ:PL	0/1:104,95:199:99:2397,0,2632	20	0	1	0
chr3	46860813	46860813	G	T	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon3:c.C170A:p.A57D,	Cardiomyopathy, hypertrophic, 8	YES	0	1519	2	0	1	3	0.000657895	.	.	52291	not_provided|Primary_familial_hypertrophic_cardiomyopathy|Long_QT_syndrome|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy|Cardiomyopathy|Hypertrophic_cardiomyopathy_8	MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|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|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.855	H	-2.07	D	1.017	D	0.874	D	0.817	4.806	27.2	4.36	2.415	7.826	14.794	0.887	0.334127719381	.	0.000199681	0.0001	0	8.64e-05	0.0003	0	7.498e-05	0	0.0003	0.0001035	16	154602	rs139794067	0.0001	0.0001	9.392e-05	0.0001	0.0016	0.0001	9.633e-05	0.0008	0.0006	2.987e-05	2.236e-05	0.0002	0.0002	1.873e-05	0.0016	6.475e-05	0.0003	0.0006	0.0001	0.0001	0.0002	0.0001	0.0005	8.665e-05	7.257e-05	0.0003	0.0002	2.408e-05	0	0.0005	0	0.0004	0	0	8.824e-05	0.0005	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.62929	D	0.000000	1	0.81001	D	4.675	0.99424	H	-2.07	0.85943	D	-5.24	0.83967	D	0.948	0.95608	1.017	0.97484	D	0.874	0.95800	D	10	0.8601358	0.85229	D	0.334128	0.91834	D	0.887	0.96725	0.609	0.74182	0.911396127066	0.91050	0.9180211833213052	0.91778	1.37316763178	0.84586	0.740424573421	0.73036	T	0.832211	0.96005	D	0.089004	0.63078	D	0.239503	0.85124	D	0.836173832416534	0.49018	D	0.775222	0.40690	T	0.94658726	0.95918	0.8868588	0.94045	0.94786704	0.96049	0.9072095	0.95490	-14.337	0.94100	D	0.5562322403670272	0.62435	0.990	0.93538	P	.;.	.;.	5.252082	0.88183	29.5	0.99698610453873182	0.80453	0.98008	0.78831	D	AEFDBCI	0.978123	0.99754	D	1.0578397734241	0.97271	15.85376	0.901658909791623	0.95643	13.82304	0.999999999999284	0.74766	0.525926	0.21836	0	0.573078	0.20572	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.36	4.36	0.51643	8.154000	0.89585	11.836000	0.97677	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	14.794	0.69488	138	0.94518	EF-hand domain;EF-hand domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2797.98	34	chr3	46860813	.	G	T	2797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.516e+00;DP=968;ExcessHet=0.0000;FS=1.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.821;SOR=0.778	GT:AD:DP:GQ:PL	0/1:109,114:223:99:2812,0,2907	20	0	1	0
chr3	46989375	46989375	G	A	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon5:c.G446A:p.R149H	Gray platelet syndrome, Autosomal recessive	.	0	1511	10	1	0	12	0.00395517	.	.	734089	not_provided|Gray_platelet_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.001	B	.	.	1.000	D	-0.345	N	0.5	T	-1.099	T	0.052	T	0.096	1.143	9.658	-2.16	-0.163	1.349	3.659	0.036	0.0145040141877	0.0006	0.000998403	0.0023	0.0003	0.0013	0	0	0.0027	0.0033	0.0034	0.0007956	123	154602	rs199797249	0.0007	0.0007	0.0006	0.0009	0.0037	0.0007	0.0007	0.0034	0.0033	6.13e-05	0.0004	0.0141	7.966e-05	0	0.0016	0.0002	0.0014	0.0037	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0005	0.0014	0.0011	0.0001	0	0.0007	0.0144	0	0	0	0.0003	0.0024	0.0025	0.535	0.06913	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	-1.355	0.00654	N	0.5	0.55608	T	0.01	0.06868	N	0.126	0.11912	-1.0993	0.04177	T	0.052	0.22192	T	9	0.0032401085	0.00055	T	0.014504	0.34657	T	0.036	0.09122	.	.	0.102598925029	0.09809	0.11799494674644576	0.11726	0.236531920032	0.26193	0.215354144573	0.01059	T	0.021182	0.16539	T	-0.565021	0.00237	T	-0.586811	0.13943	T	0.0177228832903244	0.00502	T	0.783622	0.42065	T	0.0276266	0.01981	0.03702246	0.03269	0.03915508	0.05352	0.03297379	0.02117	-4.292	0.28065	T	.	.	0.056	0.00436	B	.	.	3.037572	0.40708	21.2	0.78254874175789135	0.12222	0.56748	0.30197	D	AEFBCI	0.072370	0.14440	N	-0.853301204120781	0.11969	0.5806503	-0.717842699980631	0.16516	0.8741012	0.999626527138235	0.41093	0.722319	0.85440	0	0.696144	0.67643	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	3.92	-2.16	0.06684	1.354000	0.33660	2.706000	0.34198	-0.116000	0.14526	0.999000	0.42656	0.955000	0.29136	0.992000	0.67800	0.2782:0.0:0.3325:0.3893	3.659	0.07770	29	0.98227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1077.98	38	chr3	46989375	.	G	A	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.102;DP=812;ExcessHet=0.0000;FS=3.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=1.74;SOR=1.129	GT:AD:DP:GQ:PL	0/1:53,43:96:99:1092,0,1361	20	0	1	0
chr3	47004508	47004508	G	A	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon37:c.G6110A:p.R2037H	Gray platelet syndrome, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	720479	not_provided|NBEAL2-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.988	D	0.953	D	0.000	D	1.000	D	2.58	M	-1.12	T	-0.300	T	0.373	T	0.668	4.328	22.7	3.84	1.223	7.471	11.733	0.741	0.0574986854791	0.0002	0.000798722	0.0007	0.0001	8.666e-05	0	0	3.01e-05	0	0.0047	0.0005563	86	154602	rs200204458	0.0003	0.0003	0.0002	0.0005	0.0045	0.0003	0.0003	0.0041	0.0039	5.974e-05	2.237e-05	0	0	0	0.0005	8.095e-05	0.0003	0.0045	0.0003	0.0003	0.0002	0.0003	0.0064	0.0002	0.0002	0.0046	0.0040	4.815e-05	0	0	0	0	0	0	8.821e-05	0	0.0064	0.0	0.91255	D	.	.	.	0.988	0.62325	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	0.999985	0.58761	D	2.94	0.84723	M	-1.12	0.77593	T	-4.67	0.79571	D	0.514	0.54496	-0.2998	0.74991	T	0.373	0.73213	T	10	0.012597293	0.00270	T	0.057499	0.66989	D	0.741	0.91026	.	.	0.795362046961	0.79346	0.80506708242705	0.80460	0.889378951497	0.70148	0.745577216148	0.73793	T	0.563303	0.85418	D	-0.106266	0.35386	T	0.0740598	0.75182	D	0.22823044318075	0.21867	T	0.974503	0.90930	D	0.759966	0.81451	0.68806493	0.81651	0.759966	0.81453	0.68806493	0.81652	-10.444	0.76525	D	0.23495724238624666	0.31812	0.174	0.38080	B	.	.	4.876017	0.79927	27.2	0.99938683635474179	0.99698	0.98417	0.82562	D	AEFDGBI	0.841857	0.75902	D	0.390300205235279	0.60895	4.283766	0.396694216787195	0.61362	4.335098	0.999999999842478	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.72	3.84	0.43422	7.776000	0.84252	5.882000	0.50656	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0867:0.0:0.9133:0.0	11.733	0.51015	25	0.98345	BEACH domain|BEACH domain|BEACH domain|BEACH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2451.98	39	chr3	47004508	.	G	A	2451.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.91;DP=999;ExcessHet=0.0000;FS=3.813;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.72;ReadPosRankSum=-1.235e+00;SOR=1.012	GT:AD:DP:GQ:PL	0/1:68,88:156:99:2466,0,1651	20	0	1	0
chr3	58109253	58109253	G	C	exonic	FLNB	.	synonymous SNV	FLNB:NM_001164317:exon14:c.G2130C:p.P710P	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	889494	FLNB-related_disorder|FLNB-Related_Spectrum_Disorders|not_provided	.|MedGen:CN239400|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	8.283e-05	0	0	0	0.0002	0.0001	0	0	7.12e-05	11	154602	rs371850879	4.72e-05	4.72e-05	3.811e-05	5.638e-05	0.0012	3.794e-05	3.476e-05	0.0006	0.0004	0	4.472e-05	0	7.557e-05	1.872e-05	0.0012	4.227e-05	0.0001	2.319e-05	3.285e-05	3.283e-05	1.285e-05	5.379e-05	7.348e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	2864.98	36	chr3	58109253	.	G	C	2864.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.350e-01;DP=999;ExcessHet=0.0000;FS=1.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=1.97;SOR=0.790	GT:AD:DP:GQ:PL	0/1:100,127:227:99:2879,0,2176	20	0	1	0
chr3	93900833	93900833	C	T	exonic	PROS1	.	nonsynonymous SNV	PROS1:NM_000313:exon7:c.G698A:p.R233K	Thrombophilia due to protein S deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive, Autosomal recessive	.	79	1375	60	8	0	76	0.0268931	.	.	171093	Thrombophilia_due_to_protein_S_deficiency,_autosomal_recessive|Thrombophilia_due_to_protein_S_deficiency,_autosomal_dominant|Finnish_congenital_nephrotic_syndrome|Protein_S_deficiency_disease|PROS1-related_disorder	MONDO:MONDO:0013791,MedGen:C3281092,OMIM:614514,Orphanet:743|MONDO:MONDO:0012868,MedGen:C3278211,OMIM:612336,Orphanet:26349,Orphanet:743|MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|MONDO:MONDO:0002304,MeSH:D018455,MedGen:C0242666|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.481	N	1.000	N	-0.44	N	-2.22	D	-0.833	T	0.221	T	0.672	-0.520	1.629	-0.333	0.110	-0.158	1.258	0.502	.	0.0020	0.00698882	0.0074	0.0006	0.0032	0	0.0024	0.0037	0.0099	0.0351	0.0066105	1022	154602	rs41267007	0.0055	0.0055	0.0047	0.0064	0.0338	0.0054	0.0054	0.0328	0.0324	0.0004	0.0025	0.0016	5.039e-05	0.0023	0.0184	0.0040	0.0056	0.0338	0.0031	0.0031	0.0026	0.0035	0.0366	0.0028	0.0027	0.0322	0.0305	0.0006	0	0.0014	0.0003	0	0.0022	0	0.0032	0.0014	0.0366	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.480529	0.12171	N	0.758803	0.999972	0.18612	N	0.58	0.15352	N	-2.22	0.87038	D	0.13	0.05503	N	0.094	0.07398	-0.8327	0.53127	T	0.221	0.58434	T	10	0.0106553435	0.00236	T	.	.	.	0.502	0.78475	.	.	0.679094201566	0.67636	0.3702398663570681	0.36937	0.232416631394	0.25783	0.252426564693	0.04027	T	0.512652	0.82801	D	-0.266576	0.12141	T	-0.13132	0.60861	T	0.00268860779094126	0.00028	T	0.672333	0.34027	T	0.22805142	0.45518	0.050635796	0.07989	0.23177832	0.45955	0.044609684	0.05819	-3.187	0.12322	T	0.09818819590687654	0.06992	0.084	0.11172	B	.;.;.;.;.;.	.;.;.;.;.;.	0.873033	0.12461	8.992	0.72373484607788618	0.09951	0.09182	0.14989	N	AEFI	0.180271	0.30757	N	-0.987964775886933	0.08860	0.4170622	-0.855430635375312	0.13157	0.6810129	1.10828034484068E-5	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	4.08	-0.333	0.12042	-0.162000	0.10000	0.805000	0.21696	0.434000	0.20985	0.157000	0.23755	0.999000	0.35428	0.703000	0.34233	0.1717:0.3795:0.2108:0.238	1.258	0.01874	609	0.67094	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1737.98	33	chr3	93900833	.	C	T	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=875;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.27;MQRankSum=0.855;QD=9.93;ReadPosRankSum=-1.521e+00;SOR=0.652	GT:AD:DP:GQ:PL	0/1:101,74:175:99:1752,0,2422	20	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T,	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,12:51:99:0|1:128055734_T_C:129,0,878:128055734	7	0	14	0
chr3	132719007	132719007	A	G	exonic	NPHP3	.	synonymous SNV	NPHP3:NM_153240:exon3:c.T657C:p.C219C,	Meckel syndrome 7, Autosomal recessive;Nephronophthisis 3, Autosomal recessive;Renal-hepatic-pancreatic dysplasia 1, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	493374	Nephronophthisis|not_provided	Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	8.24e-05	0	0.0002	0.0005	0	0	0	0.0002	7.12e-05	11	154602	rs200533815	4.378e-05	4.378e-05	3.131e-05	5.638e-05	0.0004	3.509e-05	3.193e-05	0.0003	0.0002	0	6.708e-05	0	0.0004	0	0	8.094e-06	3.312e-05	0.0004	4.596e-05	4.593e-05	1.285e-05	8.055e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.391e-05	0	0	0.0001	0	0.0006	0	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	701.98	35	chr3	132719007	.	A	G	701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.890e-01;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.49;ReadPosRankSum=1.34;SOR=0.726	GT:AD:DP:GQ:PL	0/1:41,33:74:99:716,0,1023	20	0	1	0
chr3	149141200	149141200	-	TT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	293180	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0874	0.2678	0.0623	0.0136	0.0567	0.0669	0.0866	0.1206	0.0001153	3	26028	rs111598115	0.0494	0.0561	0.0489	0.0500	0.2238	0.0491	0.0490	0.2194	0.2175	0.2238	0.0419	0.0374	0.0039	0.0417	0.0609	0.0441	0.0556	0.0824	0.0888	0.0889	0.0892	0.0882	0.2303	0.0875	0.0869	0.2264	0.2248	0.2303	0.0271	0.0446	0.0315	0	0.0337	0.0292	0.0341	0.0674	0.0505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/4:198,13,0,0,90:325:99:2273,2167,8774,2874,9490,11472,2874,9490,11472,11472,0,7119,8648,8648,8379	5	0	0	0
chr3	149141200	149141200	-	TTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	289084	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1528	0.0855	0.1686	0.1749	0.2173	0.1539	0.1706	0.1422	0.0001153	3	26028	rs111598115	0.1433	0.1582	0.1438	0.1429	0.1571	0.1428	0.1426	0.1536	0.1522	0.0970	0.1463	0.1186	0.1571	0.1933	0.0911	0.1440	0.1425	0.1265	0.1545	0.1568	0.1526	0.1565	0.1932	0.1528	0.1521	0.1873	0.1848	0.1476	0.0835	0.1932	0.1594	0.1759	0.2204	0.1434	0.1430	0.1580	0.1278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/4:198,13,0,0,90:325:99:2273,2167,8774,2874,9490,11472,2874,9490,11472,11472,0,7119,8648,8648,8379	5	0	0	0
chr3	149141200	149141200	-	TTTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	293178	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0744	0.0191	0.0463	0.0847	0.0760	0.0775	0.0748	0.1106	0.0070309	183	26028	rs111598115	0.1260	0.1391	0.1267	0.1253	0.1355	0.1255	0.1253	0.1333	0.1328	0.0161	0.0544	0.0660	0.1337	0.1271	0.0493	0.1336	0.1139	0.1355	0.1620	0.1643	0.1603	0.1639	0.2658	0.1603	0.1596	0.2538	0.2490	0.0392	0.1806	0.1516	0.1322	0.2658	0.2489	0.1204	0.2160	0.1362	0.2525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/4:198,13,0,0,90:325:99:2273,2167,8774,2874,9490,11472,2874,9490,11472,11472,0,7119,8648,8648,8379	5	0	0	0
chr3	150927632	150927635	ACAC	-	UTR3	CLRN1	NM_001195794:c.*304_*301delGTGT;NM_001256819:c.*617_*614delGTGT;NM_174878:c.*304_*301delGTGT	.	.	Retinitis pigmentosa 61;Usher syndrome, type 3A, Autosomal recessive	.	1382	105	6	16	13	51	0.153226	.	.	293404	not_provided|Retinitis_pigmentosa-deafness_syndrome|Retinitis_Pigmentosa,_Dominant	MedGen:C3661900|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004|MedGen:CN239354	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1208	0.1613	0.1932	0.3923	.	0.1219	0.1667	0.1120	0.0015368	40	26028	rs143330998	0.1210	0.1126	0.1259	0.1171	0.2769	0.1199	0.1195	0.2692	0.2661	0.1447	0.1680	0.0889	0.2769	0.1361	0.1092	0.1103	0.1287	0.0912	0.1005	0.1011	0.0968	0.1043	0.2730	0.0991	0.0986	0.2611	0.2563	0.1160	0.0615	0.1289	0.0679	0.2730	0.1213	0.1042	0.0730	0.0968	0.0681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	720.63	2	chr3	150927631	.	TACAC	TAC,T	720.63	.	AC=6,3;AF=0.250,0.125;AN=24;BaseQRankSum=0.861;DP=108;ExcessHet=0.0000;FS=0.962;InbreedingCoeff=0.5124;MLEAC=8,4;MLEAF=0.333,0.167;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=0.033;SOR=1.142	GT:AD:DP:GQ:PL	1/1:0,1,0:1:3:33,3,0,33,3,33	7	3	0	9
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5095.76	52	chr3	160258644	.	G	GA	5095.76	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.170e-01;DP=980;ExcessHet=1.5138;FS=1.222;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-1.520e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:17,21:40:99:455,0,383	12	1	8	0
chr3	165773492	165773492	C	T	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon4:c.G1699A:p.A567T,	Apnea, postanesthetic (3)	YES	44	964	416	98	0	612	0.240945	.	.	28259	Deficiency_of_butyrylcholinesterase|Butyrylcholinesterase_activity|not_specified|not_provided	MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.012	B	0.019	N	0.933	P	1.895	L	-0.18	T	-1.017	T	0.001	T	0.246	2.970	15.90	4.14	1.206	4.872	11.972	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.3095	13452.11	33	chr3	165773492	.	C	T	13452.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-4.230e-01;DP=1260;ExcessHet=1.3217;FS=1.851;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.656;SOR=0.824	GT:AD:DP:GQ:PL	0/1:27,24:51:99:549,0,710	10	2	9	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	Hereditary_attention_deficit-hyperactivity_disorder|not_provided	MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37216.98	130	chr4	9783510	.	T	C	37216.98	.	AC=23;AF=0.548;AN=42;BaseQRankSum=0.351;DP=1956;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=23;MLEAF=0.548;MQ=59.95;MQRankSum=0.00;QD=21.71;ReadPosRankSum=-2.420e-01;SOR=0.721	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3150,287,0	5	7	9	0
chr4	67754019	67754019	T	C	exonic	GNRHR	.	nonsynonymous SNV	GNRHR:NM_000406:exon1:c.A317G:p.Q106R	Hypogonadotropic hypogonadism 7 without anosmia, Autosomal recessive	YES	0	1506	16	0	0	16	0.00528402	.	.	31062	GNRHR-related_disorder|Gonadotropin_deficiency|Hypogonadotropic_hypogonadism|Inborn_genetic_diseases|Infertility_disorder|Hypogonadotropic_hypogonadism_7_with_or_without_anosmia|Isolated_congenital_hypogonadotropic_hypogonadism|not_provided	.|Human_Phenotype_Ontology:HP:0008213,MedGen:C4552011,Orphanet:181387|Human_Phenotype_Ontology:HP:0000044,Human_Phenotype_Ontology:HP:0003335,Human_Phenotype_Ontology:HP:0008224,MONDO:MONDO:0018555,MedGen:C0271623,OMIM:PS147950,Orphanet:432|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359|MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432|MONDO:MONDO:0016553,MedGen:C5679849,Orphanet:238666|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.992	D	0.000	D	1.000	A	1.055	L	-0.54	T	-0.320	T	0.323	T	0.955	2.437	14.11	6.17	2.371	7.775	14.774	0.606	0.0502223929218	0.0025	0.00119808	0.0025	0.0005	0.0009	0	0.0018	0.0040	0.0022	0.0007	0.0028137	435	154602	rs104893836	0.0037	0.0037	0.0037	0.0036	0.0054	0.0036	0.0035	0.0041	0.0041	0.0006	0.0025	0.0060	5.038e-05	0.0019	0.0054	0.0042	0.0029	0.0008	0.0023	0.0023	0.0025	0.0022	0.0035	0.0021	0.0021	0.0032	0.0030	0.0005	0	0.0029	0.0078	0	0.0012	0.0034	0.0035	0.0019	0.0008	0.001	0.78490	D	0.059	0.61642	T	0.997	0.70673	D	0.992	0.80445	D	0.000008	0.62929	D	0.000000	0.999894	0.50595	A	1.28	0.32218	L	-0.54	0.70950	T	-3.66	0.72120	D	0.871	0.86833	-0.3199	0.74424	T	0.323	0.69160	T	9	0.02444002	0.00672	T	0.050222	0.64151	D	0.606	0.84506	.	.	0.865565913474	0.86426	0.6508790891331032	0.65023	0.349769851821	0.36824	0.576106905937	0.49537	T	0.712316	0.91804	D	0.00964354	0.52975	T	0.246203	0.85441	D	0.0515199182516294	0.05765	T	0.772023	0.50934	T	0.78127015	0.82732	0.73259306	0.84197	0.75044835	0.80896	0.7223215	0.83603	-11.423	0.84384	D	0.2930875649712104	0.38984	0.359	0.57129	A	.;.	.;.	4.030639	0.59597	24.1	0.99576257528734025	0.72742	0.97816	0.77344	D	AEFGI	0.923474	0.90001	D	0.453357316500366	0.64394	4.692888	0.423272155502814	0.63018	4.527529	0.999999996378592	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	7.946000	0.87231	7.865000	0.71651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.0:0.0:0.0:1.0	14.774	0.69335	930	0.16408	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2173.98	33	chr4	67754019	.	T	C	2173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.983e+00;DP=901;ExcessHet=0.0000;FS=6.210;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.811;SOR=0.469	GT:AD:DP:GQ:PL	0/1:94,92:186:99:2188,0,2441	20	0	1	0
chr4	103658373	103658373	G	A	exonic	TACR3	.	synonymous SNV	TACR3:NM_001059:exon2:c.C579T:p.P193P,	Hypogonadotropic hypogonadism 11 with or without anosmia, Autosomal recessive	.	2	1512	8	0	0	8	0.00263852	.	.	293277	TACR3-related_disorder|Hypogonadotropic_hypogonadism_11_with_or_without_anosmia|not_provided	.|MONDO:MONDO:0013913,MedGen:C3553844,OMIM:614840,Orphanet:478|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.000399361	0.0020	0.0002	0.0007	0	0.0003	0.0031	0.0011	0.0016	0.002031	314	154602	rs62340657	0.0026	0.0027	0.0027	0.0026	0.0032	0.0026	0.0025	0.0031	0.0030	0.0004	0.0008	7.657e-05	0	0.0005	0.0021	0.0032	0.0023	0.0014	0.0017	0.0017	0.0019	0.0015	0.0029	0.0015	0.0014	0.0026	0.0025	0.0005	0.0055	0.0010	0.0003	0	0.0003	0	0.0029	0.0005	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	994.98	34	chr4	103658373	.	G	A	994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.485e+00;DP=746;ExcessHet=0.0000;FS=3.371;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=1.88;SOR=0.377	GT:AD:DP:GQ:PL	0/1:31,38:69:99:1009,0,891	20	0	1	0
chr4	122743906	122743906	G	A	exonic	BBS12	.	nonsynonymous SNV	BBS12:NM_152618:exon2:c.G2014A:p.A672T	Bardet-Biedl syndrome 12, Autosomal recessive	.	0	1499	22	1	0	24	0.00794176	.	.	683621	Bardet-Biedl_syndrome_12|Bardet-Biedl_syndrome|not_provided	MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989,Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	1.0	D	1.0	D	0.000	D	1.000	D	2.295	M	-0.62	T	-0.020	T	0.554	D	0.82	5.308	34	5.91	2.793	8.766	20.299	0.569	0.0482037783086	7.7e-05	0.000798722	0.0012	0	8.648e-05	0	0	0.0001	0.0022	0.0091	0.0010414	161	154602	rs140895713	0.0006	0.0006	0.0003	0.0009	0.0086	0.0006	0.0005	0.0081	0.0079	0	2.299e-05	0	0	0	0.0024	6.046e-05	0.0007	0.0086	0.0003	0.0003	0.0001	0.0004	0.0066	0.0002	0.0002	0.0048	0.0042	0	0	0.0001	0	0	0	0	0.0001	0.0005	0.0066	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	2.785	0.81254	M	-0.62	0.71895	T	-2.69	0.57435	D	0.811	0.80669	-0.0197	0.81845	T	0.554	0.83714	D	10	0.018981725	0.00419	T	0.048204	0.63269	D	0.569	0.82460	.	.	0.885391180531	0.88426	0.6774444198983406	0.67683	0.457058569676	0.45352	0.500383377075	0.38882	T	0.386616	0.74774	T	-0.0648053	0.42154	T	0.139967	0.79542	D	0.140191160512219	0.16292	T	0.807619	0.45757	T	0.6702086	0.76444	0.6674952	0.80499	0.6690924	0.76385	0.6767098	0.81015	-8.019	0.61199	D	0.9670926834415642	0.98958	0.292	0.52712	B	.;.	.;.	4.704194	0.75506	26.3	0.9994709427655859	0.99913	0.99088	0.91048	D	AEFBI	0.868321	0.78839	D	0.90273562238733	0.91893	11.12072	0.897381362830219	0.95458	13.64052	0.999999999999998	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.91	5.91	0.95240	8.990000	0.93072	9.830000	0.81856	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.299	0.98594	461	0.78683	.;.	.	.	.	.	.	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	0.02381	1461.98	33	chr4	122743906	.	G	A	1461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.259;DP=901;ExcessHet=0.0000;FS=1.384;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=1.81;SOR=0.744	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1476,0,1700	20	0	1	0
chr4	154586438	154586438	T	C	exonic	FGA	.	nonsynonymous SNV	FGA:NM_000508: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	Familial_visceral_amyloidosis,_Ostertag_type|not_provided|Venous_thromboembolism,_susceptibility_to|Congenital_afibrinogenemia|not_specified	MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450|MedGen:C3661900|MedGen:C1858965|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.83	T	0.025	B	0.008	B	0.019	N	1.000	P	-0.46	N	-0.53	T	-1.021	T	0.000	T	0.08	0.222	5.196	-6.65	-0.905	-6.952	1.170	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.2143	26200.99	35	chr4	154586438	.	T	C	26200.99	.	AC=9;AF=0.214;AN=42;BaseQRankSum=2.01;DP=2232;ExcessHet=0.9430;FS=0.521;InbreedingCoeff=0.0101;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=15.29;ReadPosRankSum=0.073;SOR=0.722	GT:AD:DP:GQ:PL	0/1:129,121:250:99:3075,0,3392	13	1	7	0
chr5	236472	236472	G	T	exonic	SDHA	.	synonymous SNV	SDHA:NM_001294332:exon9:c.G1161T:p.L387L	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	YES	0	1450	67	5	0	77	0.025865	.	.	226823	Paragangliomas_5|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Hereditary_pheochromocytoma-paraganglioma|Hereditary_cancer-predisposing_syndrome|not_specified|Leigh_syndrome|not_provided	MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0146	0.0151757	0.0193	0.0025	0.0080	0	0.0364	0.0235	0.0121	0.0242	0.0176582	2730	154602	rs35964044	0.0163	0.0163	0.0157	0.0169	0.0373	0.0162	0.0161	0.0332	0.0317	0.0030	0.0103	0.0466	5.039e-05	0.0369	0.0373	0.0149	0.0201	0.0253	0.0154	0.0154	0.0142	0.0167	0.0251	0.0149	0.0147	0.0214	0.0201	0.0026	0	0.0184	0.0467	0.0002	0.0369	0.0102	0.0182	0.0227	0.0251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.1429	8274.01	37	chr5	236472	.	G	T	8274.01	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.537e+00;DP=1046;ExcessHet=0.1217;FS=0.570;InbreedingCoeff=0.2222;MLEAC=6;MLEAF=0.143;MQ=59.42;MQRankSum=1.00;QD=18.14;ReadPosRankSum=-5.390e-01;SOR=0.786	GT:AD:DP:GQ:PL	0/1:33,49:82:99:1284,0,878	16	1	4	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	not_provided|Leigh_syndrome|Pheochromocytoma|SDHA-related_disorder|Paragangliomas_5|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Hereditary_cancer-predisposing_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|.|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	5151.27	33	chr5	256319	.	ACT	A	5151.27	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-1.497e+00;DP=2519;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=58.10;MQRankSum=-1.235e+01;QD=2.88;ReadPosRankSum=0.434;SOR=0.810	GT:AD:DP:GQ:PL	0/1:126,26:152:99:707,0,5191	10	0	11	0
chr5	111092387	111092387	C	G	UTR5	WDR36	NM_139281:c.-70C>G	.	.	Glaucoma 1, open angle, G	.	0	1500	21	1	0	23	0.00760834	.	.	251608	Primary_open_angle_glaucoma|not_provided|not_specified	MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.000	N	1.000	N	0	N	-0.13	T	-0.979	T	0.082	T	0.642	0.731	7.885	0.372	0.184	-1.830	1.510	0.336	0.00916248303692	0.0051	0.00239617	0.0040	0.0011	0.0020	0	0.0006	0.0060	0.0022	0.0023	0.0038809	600	154602	rs35629723	0.0050	0.0050	0.0051	0.0050	0.0059	0.0049	0.0049	0.0058	0.0057	0.0009	0.0014	0.0010	5.038e-05	0.0013	0.0035	0.0059	0.0050	0.0031	0.0035	0.0035	0.0036	0.0034	0.0061	0.0033	0.0032	0.0056	0.0054	0.0011	0.0088	0.0018	0.0003	0	0.0009	0.0136	0.0061	0.0038	0.0037	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.000012	0.00162	N	7.121930	1	0.19694	N	0	0.06538	N	-0.13	0.64818	T	0.09	0.05917	N	0.66	0.66959	-0.9792	0.35186	T	0.082	0.32411	T	10	0.005258709	0.00115	T	0.009162	0.24083	T	0.336	0.65816	0.638	0.77470	0.932442822561	0.93175	0.05615220551517261	0.05556	0.0276309125489	0.02824	0.462629765272	0.33671	T	0.073029	0.34599	T	-0.365769	0.03814	T	-0.295427	0.45205	T	0.00588394491656603	0.00065	T	0.247975	0.03672	T	0.18418509	0.39721	0.17278887	0.39559	0.26002982	0.49058	0.2107783	0.45478	-2.613	0.06603	T	.	.	0.088	0.11701	B	.;.	.;.	0.169871	0.05591	2.045	0.49491121811974437	0.04219	0.14330	0.18346	N	ALL	0.039784	0.05827	N	-1.05970194748994	0.07398	0.3435778	-1.07181721398698	0.08258	0.4052678	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.78	0.372	0.15405	-1.859000	0.01749	-6.349000	0.01424	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1389:0.2457:0.3645:0.2509	1.510	0.02344	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	2562.98	34	chr5	111092387	.	C	G	2562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.618;DP=863;ExcessHet=0.0000;FS=4.545;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=0.325;SOR=1.027	GT:AD:DP:GQ:PL	0/1:77,95:172:99:2577,0,2006	20	0	1	0
chr5	132867600	132867600	C	T	UTR3	UQCRQ	NM_014402:c.*18C>T	.	.	Mitochondrial complex III deficiency, nuclear type 4, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	300953	not_specified|Mitochondrial_complex_III_deficiency_nuclear_type_4	MedGen:CN169374|MONDO:MONDO:0014065,MedGen:C3554607,OMIM:615159	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0002	0	0	0.0004	0	0	0.000207	32	154602	rs768723651	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	6.015e-05	0.0002	0	2.524e-05	0.0001	0.0002	0.0003	0.0004	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.719e-05	0.0001	8.878e-05	4.826e-05	0	0.0003	0	0	0.0002	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	627.98	36	chr5	132867600	.	C	T	627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=749;ExcessHet=0.0000;FS=2.304;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.02;ReadPosRankSum=0.721;SOR=1.179	GT:AD:DP:GQ:PL	0/1:31,26:57:99:642,0,735	20	0	1	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L,	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	.	451	281	404	386	0	1176	0.67664	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	30478.64	113	chr5	138556481	.	G	A	30478.64	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-6.300e-02;DP=1997;ExcessHet=2.0051;FS=0.541;InbreedingCoeff=-0.0476;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=17.07;ReadPosRankSum=-5.510e-01;SOR=0.766	GT:AD:DP:GQ:PL	1/1:0,100:100:99:2844,300,0	5	5	11	0
chr5	146878727	146878727	-	GCTGCTGCTGCTGCT	UTR5	PPP2R2B	NM_181675:c.-657_-656insAGCAGCAGCAGCAGC;NM_001271948:c.-22193_-22192insAGCAGCAGCAGCAGC	.	.	Spinocerebellar ataxia 12, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	215310	not_specified|PPP2R2B-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077225	201	26028	rs142461655	0.1009	0.1092	0.0980	0.1038	0.1147	0.1004	0.1001	0.1126	0.1118	0.0771	0.0840	0.1328	0.0832	0.1021	0.1107	0.1002	0.1125	0.1147	0.0968	0.0971	0.0995	0.0940	0.1241	0.0955	0.0949	0.1169	0.1160	0.0773	0.0833	0.0789	0.1165	0.0656	0.0518	0.1069	0.1190	0.0968	0.1241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	21129.44	37	chr5	146878727	.	A	AGCTGCTGCTGCTGCTGCTGCT,AGCT,AGCTGCTGCTGCT,AGCTGCTGCTGCTGCT,AGCTGCT,AGCTGCTGCT	21129.44	.	AC=6,1,4,3,1,7;AF=0.143,0.024,0.095,0.071,0.024,0.167;AN=42;BaseQRankSum=-5.940e-01;DP=1307;ExcessHet=0.2144;FS=0.000;InbreedingCoeff=0.2364;MLEAC=6,1,4,3,1,7;MLEAF=0.143,0.024,0.095,0.071,0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=31.92;ReadPosRankSum=0.364;SOR=0.702	GT:AD:DP:GQ:PL	0/3:28,0,0,31,0,0,0:61:99:1206,1313,2567,1313,2567,2567,0,1183,1183,1086,1313,2567,2567,1183,2567,1313,2567,2567,1183,2567,2567,1313,2567,2567,1183,2567,2567,2567	6	2	1	0
chr5	177386232	177386252	GTCCCCAAGCTGCGCCAGGCT	-	exonic	SLC34A1	.	nonframeshift deletion	SLC34A1:NM_001167579:exon4:c.271_291del:p.V91_A97del	Fanconi renotubular syndrome 2, Autosomal recessive;Hypercalcemia, infantile, 2, Autosomal recessive;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Autosomal dominant	.	0	1497	24	1	0	26	0.00860927	.	.	236728	Hypophosphatemic_nephrolithiasis/osteoporosis_1|Hypercalcemia,_infantile,_2|Fanconi_renotubular_syndrome_2|not_provided	MONDO:MONDO:0012850,MedGen:C2676786,OMIM:612286,Orphanet:244305|MONDO:MONDO:0014851,MedGen:C4310473,OMIM:616963,Orphanet:300547|MONDO:MONDO:0013247,MedGen:C3150652,OMIM:613388|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0185	0.00838658	0.0177	0.0044	0.0048	0.0001	0.0287	0.0252	0.0121	0.0099	0.0024589	64	26028	rs1460573878	0.0225	0.0225	0.0227	0.0223	0.0258	0.0223	0.0222	0.0255	0.0254	0.0035	0.0057	0.0088	2.519e-05	0.0285	0.0069	0.0258	0.0189	0.0106	0.0171	0.0171	0.0172	0.0170	0.0266	0.0165	0.0163	0.0256	0.0251	0.0046	0.0307	0.0099	0.0104	0	0.0305	0.0102	0.0266	0.0090	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2379.07	37	chr5	177386231	.	GGTCCCCAAGCTGCGCCAGGCT	G	2379.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.09;DP=882;ExcessHet=0.1072;FS=2.084;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.86;ReadPosRankSum=1.35;SOR=0.896	GT:AD:DP:GQ:PL	0/1:41,22:63:99:797,0,1622	19	0	2	0
chr6	6145649	6145649	G	A	exonic	F13A1	.	synonymous SNV	F13A1:NM_000129:exon15:c.C2169T:p.D723D,	Factor XIIIA deficiency, Autosomal recessive	.	2	1499	19	2	0	23	0.00761337	.	.	710573	not_provided|Factor_XIII,_A_subunit,_deficiency_of	MedGen:C3661900|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.00259585	0.0029	0.0010	0.0036	0	0.0002	0.0040	0.0022	0.0017	0.0029883	462	154602	rs5989	0.0046	0.0046	0.0047	0.0045	0.0128	0.0045	0.0045	0.0105	0.0096	0.0008	0.0042	0.0044	0	0.0002	0.0128	0.0053	0.0056	0.0013	0.0035	0.0036	0.0038	0.0033	0.0071	0.0033	0.0032	0.0060	0.0056	0.0011	0	0.0071	0.0032	0	9.42e-05	0.0034	0.0053	0.0057	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	1131.98	33	chr6	6145649	.	G	A	1131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.510e-01;DP=866;ExcessHet=0.0000;FS=5.216;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.75;ReadPosRankSum=0.128;SOR=0.391	GT:AD:DP:GQ:PL	0/1:93,53:146:99:1146,0,2438	20	0	1	0
chr6	6174633	6174633	G	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon12:c.C1694T:p.P565L,	Factor XIIIA deficiency, Autosomal recessive	.	4	868	532	118	0	768	0.306709	.	.	252448	not_provided|not_specified|Factor_XIII,_A_subunit,_deficiency_of	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.74	T	0.003	B	0.002	B	0.139	N	1.000	P	-0.55	N	-0.06	T	-1.081	T	0.040	T	0.06	-0.906	0.427	5.78	2.726	2.506	12.334	0.077	.	0.1925	0.240415	0.2160	0.1520	0.0939	0.3199	0.2052	0.2048	0.2313	0.3360	0.209965	32461	154602	rs5982	0.2156	0.2156	0.2117	0.2195	0.3279	0.2149	0.2147	0.3247	0.3234	0.1539	0.1013	0.2210	0.3015	0.2031	0.2525	0.2100	0.2248	0.3279	0.1958	0.1960	0.1933	0.1985	0.3479	0.1940	0.1932	0.3340	0.3284	0.1586	0.2029	0.1354	0.2190	0.3065	0.2133	0.2687	0.2087	0.1957	0.3479	0.729	0.03823	T	0.665	0.06406	T	.	.	.	.	.	.	0.138901	0.18362	N	0.568490	1	0.08975	P	.	.	.	-0.06	0.63568	T	0.31	0.04022	N	0.036	0.01068	-1.0809	0.07175	T	0.040	0.17149	T	9	0.0069898665	0.00159	T	.	.	.	0.077	0.22490	.	.	.	.	0.5783212436962746	0.57761	0.227437257193	0.25295	0.354513347149	0.18584	T	.	.	.	-0.666851	0.00057	T	-0.586841	0.13941	T	0.0120128747694183	0.00189	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.	.	2.677165	0.34918	19.76	0.3814487705666012	0.02555	0.45118	0.27468	N	AEFDGBI	0.423562	0.48910	N	-0.656020314291582	0.17286	0.8881491	-0.481416803574241	0.22666	1.232241	0.982481270091029	0.30405	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	2.576000	0.45698	8.492000	0.77332	0.665000	0.62972	0.643000	0.28111	1.000000	0.68203	0.253000	0.23340	0.0763:0.0:0.9237:0.0	12.334	0.54383	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	28918.26	37	chr6	6174633	.	G	A	28918.26	.	AC=11;AF=0.262;AN=42;BaseQRankSum=2.29;DP=2169;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1378;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=17.37;ReadPosRankSum=0.505;SOR=0.737	GT:AD:DP:GQ:PL	0/1:101,98:199:99:2387,0,3749	12	2	7	0
chr6	7585563	7585563	C	G	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.C6504G:p.T2168T	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	.	0	1515	7	0	0	7	0.00230491	.	.	44689	not_specified|Cardiovascular_phenotype|Cardiomyopathy|Lethal_acantholytic_epidermolysis_bullosa|Woolly_hair-skin_fragility_syndrome|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|not_provided	MedGen:CN169374|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000798722	0.0006	0	0.0006	0	0	0.0008	0.0011	0.0003	0.0005433	84	154602	rs145362059	0.0004	0.0004	0.0004	0.0004	0.0042	0.0004	0.0004	0.0029	0.0024	0.0002	0.0010	0.0049	0	0	0.0042	0.0003	0.0012	0.0004	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0003	0.0005	0.0004	4.814e-05	0	0.0008	0.0043	0	0	0.0034	0.0005	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	0.04762	17247.11	33	chr6	7585563	.	C	G	17247.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.369e+00;DP=7970;ExcessHet=0.1072;FS=0.522;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-9.990e-01;SOR=0.632	GT:AD:DP:GQ:PL	0/1:368,337:705:99:8207,0,9459	19	0	2	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	.	5	101	508	907	1	2323	0.919968	.	.	54134	Lethal_acantholytic_epidermolysis_bullosa|Woolly_hair-skin_fragility_syndrome|not_provided|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Keratosis_palmoplantaris_striata_2|DSP-related_disorder|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|Cardiovascular_phenotype|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908|.|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.6429	175804.2	449	chr6	7585734	.	G	C	175804.2	.	AC=27;AF=0.643;AN=42;BaseQRankSum=4.06;DP=8806;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=20.84;ReadPosRankSum=0.224;SOR=0.645	GT:AD:DP:GQ:PL	0/1:203,218:421:99:5813,0,5326	1	7	13	0
chr6	16327685	16327687	TGC	-	exonic	ATXN1	.	nonframeshift deletion	ATXN1:NM_001128164:exon7:c.624_626del:p.Q208del	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	207394	ATXN1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001423	22	154602	rs797045409	0.0424	0.0556	0.0408	0.0441	0.3444	0.0422	0.0420	0.3389	0.3366	0.0367	0.1010	0.0204	0.3444	0.0672	0.0337	0.0262	0.0548	0.1071	0.0694	0.0705	0.0647	0.0744	0.3715	0.0682	0.0677	0.3558	0.3495	0.0558	0.1998	0.1241	0.0327	0.3715	0.0848	0.0426	0.0397	0.0626	0.1442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/2:22,0,22,0,0,0:44:99:1464,1327,2819,0,1267,1346,1327,2819,1267,2819,1327,2819,1267,2819,2819,1327,2819,1267,2819,2819,2819	9	0	3	0
chr6	32043548	32043548	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G826A:p.G276S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	46	1439	32	5	0	42	0.0143836	.	.	1683144	not_provided|See_cases	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.58	T	0.969	D	0.572	P	0.001	D	1.000	D	1.495	L	0.5	T	-1.072	T	0.091	T	0.191	2.825	15.41	4.51	2.551	2.091	11.335	0.137	.	0.0018	0.00339457	0.0068	0.0016	0.0103	0.0017	0.0003	0.0063	0.0075	0.0139	0.0007684	20	26028	rs199688928	0.0039	0.0035	0.0034	0.0043	0.0194	0.0038	0.0037	0.0155	0.0140	0.0004	0.0055	0.0097	0.0003	0.0002	0.0194	0.0032	0.0058	0.0100	0.0032	0.0034	0.0027	0.0037	0.0095	0.0029	0.0028	0.0069	0.0061	0.0005	0	0.0078	0.0082	0.0014	0	0.0106	0.0035	0.0052	0.0095	0.298	0.18000	T	0.0	0.92824	D	.	.	.	.	.	.	0.000500	0.43931	D	0.101185	1	0.81001	D	.	.	.	0.5	0.55608	T	-4.0	0.81269	D	0.428	0.46742	-1.0719	0.09001	T	0.091	0.34847	T	10	0.009701818	0.00218	T	.	.	.	0.137	0.36984	.	.	0.316918214084	0.31302	0.4136048951951291	0.41276	1.07586337657	0.76961	0.59685254097	0.52460	T	0.064485	0.32447	T	-0.471116	0.00837	T	-0.442537	0.28526	T	0.0281921996046609	0.01716	T	0.668433	0.72366	T	0.20872347	0.43117	0.20812012	0.45100	0.20204142	0.42235	0.19100328	0.42534	-6.141	0.47444	T	0.12400312571121505	0.12101	0.297	0.52728	B	.;.;.;.;.	.;.;.;.;.	4.120674	0.61586	24.4	0.9950172087484398	0.68089	0.75628	0.37039	D	AEFGBI	0.269367	0.38566	N	0.186475487493959	0.50551	3.243918	0.191575787999785	0.49384	3.142268	0.170872636974423	0.17733	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.44	4.51	0.54589	2.440000	0.44513	.	.	0.599000	0.40250	0.294000	0.25270	1.000000	0.68203	0.696000	0.34018	0.0:0.8166:0.1834:0.0	11.335	0.48734	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	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	0.119	988.81	8	chr6	32043548	.	C	T	988.81	.	AC=5;AF=0.119;AN=42;BaseQRankSum=1.97;DP=252;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.2965;MLEAC=5;MLEAF=0.119;MQ=39.42;MQRankSum=0.057;QD=17.05;ReadPosRankSum=-3.950e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:15,8:23:99:272,0,551	17	1	3	0
chr6	33178983	33178983	C	G	intronic	COL11A2	.	.	.	Deafness, autosomal dominant 13, Autosomal dominant;Deafness, autosomal recessive 53, Autosomal recessive;Fibrochondrogenesis 2, Autosomal recessive, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Stickler syndrome, type III, Autosomal dominant;Weissenbacher-Zweymuller syndrome, Autosomal dominant	.	0	1516	6	0	0	6	0.00197498	0.0009	0.002	229466	Stickler_Syndrome,_Dominant|not_provided|Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant|Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive|Connective_tissue_disorder|Fibrochondrogenesis_2|not_specified	MedGen:CN239460|MedGen:C3661900|MONDO:MONDO:0008490,MedGen:C1848488,OMIM:184840,Orphanet:166100,Orphanet:3450|MONDO:MONDO:0044206,MedGen:C5551484,OMIM:215150,Orphanet:1427|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0013795,MedGen:C3281128,OMIM:614524,Orphanet:2021|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.00179712	0.0012	0.0001	8.696e-05	0	0.0044	0.0012	0	0.0020	0.0011707	181	154602	rs182657680	0.0012	0.0012	0.0012	0.0013	0.0019	0.0012	0.0011	0.0014	0.0013	5.974e-05	0.0003	7.653e-05	0	0.0027	0.0019	0.0013	0.0007	0.0016	0.0012	0.0012	0.0009	0.0014	0.0025	0.0010	0.0010	0.0014	0.0011	9.631e-05	0.0132	0.0003	0	0.0004	0.0043	0	0.0014	0.0014	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1731.98	34	chr6	33178983	.	C	G	1731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.100;SOR=0.673	GT:AD:DP:GQ:PL	0/1:83,67:150:99:1746,0,2129	20	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	Peroxisome_biogenesis_disorder|Peroxisome_biogenesis_disorder_1A_(Zellweger)|PEX6_POLYMORPHISM|not_specified|not_provided	MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.647364	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs144286892	0.5727	0.5907	0.5681	0.5768	0.9184	0.5710	0.5703	0.9056	0.9003	0.9184	0.5473	0.5051	0.3599	0.5005	0.6168	0.5761	0.5928	0.6450	0.6587	0.6629	0.6658	0.6513	0.9162	0.6553	0.6538	0.9083	0.9051	0.9162	0.6826	0.5830	0.5087	0.3234	0.5061	0.5810	0.5796	0.6463	0.6385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	4501.24	9	chr6	42963889	.	GTTTA	G	4501.24	.	AC=23;AF=0.548;AN=42;BaseQRankSum=-6.160e-01;DP=196;ExcessHet=0.0777;FS=3.019;InbreedingCoeff=0.2387;MLEAC=24;MLEAF=0.571;MQ=59.96;MQRankSum=0.00;QD=31.92;ReadPosRankSum=-1.440e+00;SOR=1.090	GT:AD:DP:GQ:PL	1/1:0,9:9:27:405,27,0	6	8	7	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	not_provided|Char_syndrome	MedGen:C3661900|MONDO:MONDO:0008209,MedGen:C1868570,OMIM:169100,Orphanet:46627	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	569.22	91	chr6	50844302	.	AAC	A,ACAC	569.22	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=0.550;DP=91;ExcessHet=0.0000;FS=2.002;MLEAC=6,3;MLEAF=0.429,0.214;MQ=60.00;MQRankSum=0.00;QD=8.62;ReadPosRankSum=-1.078e+00;SOR=0.740	GT:AD:DP:GQ:PL	1/1:0,2,0:2:6:26,6,0,26,6,26	4	2	0	14
chr6	50844302	50844302	-	C	UTR3	TFAP2B	NM_003221:c.*910_*911insC	.	.	Char syndrome, Autosomal dominant;Patent ductus arteriosus 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	303428	not_provided|Char_syndrome	MedGen:CN517202|MONDO:MONDO:0008209,MedGen:C1868570,OMIM:169100,Orphanet:46627	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs35649205	0.1111	0.0019	0.0294	0.1486	.	0.0641	0.0503	.	.	.	.	.	.	0.1078	.	0	0.2500	.	0.1386	0.1392	0.1382	0.1390	0.2247	0.1370	0.1363	0.2208	0.2192	0.2247	0.0830	0.0994	0.0939	0.0720	0.1523	0.1197	0.1040	0.1303	0.1144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	569.22	91	chr6	50844302	.	AAC	A,ACAC	569.22	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=0.550;DP=91;ExcessHet=0.0000;FS=2.002;MLEAC=6,3;MLEAF=0.429,0.214;MQ=60.00;MQRankSum=0.00;QD=8.62;ReadPosRankSum=-1.078e+00;SOR=0.740	GT:AD:DP:GQ:PL	1/1:0,2,0:2:6:26,6,0,26,6,26	4	2	0	14
chr6	51632734	51632734	G	A	intronic	PKHD1	.	.	.	Polycystic kidney and hepatic disease, Autosomal recessive	.	4	1517	1	0	0	1	0.000329489	0	0	487145	Autosomal_recessive_polycystic_kidney_disease|not_provided|not_specified	MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0008	9.63e-05	8.772e-05	0	0.0005	0.0014	0.0011	0	9.06e-05	14	154602	rs201478327	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0001	0.0001	0.0024	0	0.0001	0	0.0008	0.0006	0	0.0005	0.0005	0.0007	0.0003	0.0007	0.0004	0.0004	0.0006	0.0005	9.644e-05	0	0.0005	0.0017	0	0.0006	0.0103	0.0007	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	289.98	24	chr6	51632734	.	G	A	289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.720;DP=610;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=0.124;SOR=0.657	GT:AD:DP:GQ:PL	0/1:8,11:19:99:304,0,197	20	0	1	0
chr6	64912512	64912512	G	A	exonic	EYS	.	synonymous SNV	EYS:NM_001142800:exon16:c.C2613T:p.D871D	Retinitis pigmentosa 25	.	4	1517	1	0	0	1	0.000329489	.	.	300912	Retinitis_pigmentosa_25|Retinitis_pigmentosa|not_provided	MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.000199681	0.0025	0.0005	0	0.0016	0.0006	0.0050	0.0041	0.0009	0.0008603	133	154602	rs192059823	0.0037	0.0036	0.0038	0.0036	0.0044	0.0036	0.0036	0.0043	0.0042	0.0006	0.0007	0.0049	0.0001	0.0013	0.0005	0.0044	0.0032	0.0009	0.0027	0.0027	0.0032	0.0022	0.0049	0.0025	0.0024	0.0045	0.0043	0.0007	0	0.0009	0.0043	0.0002	0.0015	0	0.0049	0.0033	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.02381	1458.98	43	chr6	64912512	.	G	A	1458.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.360e-01;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-4.430e-01;SOR=0.695	GT:AD:DP:GQ:PL	0/1:43,62:105:99:1473,0,940	20	0	1	0
chr6	80007992	80007992	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G323C:p.S108T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.986	D	0.852	P	0.000	D	0.593	D	1.955	M	-2.63	D	0.046	D	0.635	D	0.39	3.677	18.69	3.86	0.842	5.340	8.738	0.403	0.0853925880234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1707	0.2059	0.1863	0.1558	0.2162	0.1701	0.1698	0.2154	0.2150	0.1392	0.0055	0.0504	0.0230	0.0017	0.0737	0.2162	0.1283	0.0500	0	3.307e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.144	0.59732	T	0.966	0.56202	D	0.631	0.51788	P	0.000000	0.84330	D	0.071194	0.593197	0.32474	D	2.595	0.75868	M	-2.63	0.90083	D	-1.03	0.49187	N	0.442	0.48042	0.046	0.83166	D	0.635	0.87219	D	10	0.3497452	0.51861	T	0.085393	0.74523	D	0.403	0.71636	0.228	0.15406	0.781371246216	0.77935	0.3376395449906995	0.33676	0.281122348813	0.30588	0.551896691322	0.46125	T	0.092565	0.57262	T	0.136052	0.67947	D	-0.0423466	0.67543	D	0.917783379554749	0.57577	D	0.631037	0.24617	T	0.7190072	0.79106	0.41570723	0.65677	0.7190072	0.79108	0.41570723	0.65677	-6.628	0.51765	T	.	.	0.218	0.44758	B	.;.;.;.;.;.	.;.;.;.;.;.	4.204753	0.63475	24.6	0.99575890361854102	0.72682	0.97332	0.74083	D	AEFBI	0.519272	0.54462	D	0.42824476472478	0.62980	4.523298	0.423839017229321	0.63052	4.531729	0.99999023762309	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	3.86	0.43689	5.209000	0.65041	8.593000	0.77695	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1406:0.1265:0.7329:0.0	8.738	0.33699	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:28,0,5:33:58:0|1:80007992_G_C:58,142,1078,0,936,921:80007992	2	0	13	4
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.818	P	0.000	D	0.844	D	1.61	L	1.42	T	0.418	D	0.623	D	0.661	4.331	22.8	5.66	2.285	5.664	9.438	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:28,0,0,5:33:58:0|1:80007992_G_C:58,142,1078,142,1078,1078,0,936,936,921:80007992	1	0	7	8
chr6	107901524	107901524	A	-	intronic	SEC63	.	.	.	Polycystic liver disease 2, Autosomal dominant	.	301	1175	27	3	16	49	0.0138481	.	.	298622	not_provided|Polycystic_liver_disease_1	MedGen:C3661900|MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0643	.	0.1032	0.1328	0.0968	0.0728	0.0193	0.0957	0.0773	0.1565	0.0002689	7	26028	rs370485907	0.0510	0.1097	0.0512	0.0509	0.0988	0.0506	0.0505	0.0952	0.0937	0.0988	0.0633	0.0519	0.0426	0.0491	0.0361	0.0492	0.0585	0.0520	0.0158	0.0163	0.0159	0.0158	0.0488	0.0153	0.0150	0.0469	0.0462	0.0488	0	0.0102	0.0010	0.0002	0.0026	0.0038	0.0025	0.0105	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	393.85	29	chr6	107901523	.	TA	T	393.85	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-9.500e-02;DP=533;ExcessHet=1.1607;FS=0.667;InbreedingCoeff=-0.1295;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=3.52;ReadPosRankSum=0.250;SOR=0.813	GT:AD:DP:GQ:PL	0/1:11,2:13:17:17,0,256	16	0	5	0
chr6	131847857	131847860	GTGT	-	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	64	102	8	11	41	71	0.128205	.	.	306033	Hypophosphatemic_Rickets,_Recessive|not_specified|not_provided|Arterial_calcification,_generalized,_of_infancy,_1	MedGen:CN239452|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs373838049	0.0474	0.0578	0.0472	0.0476	0.1058	0.0471	0.0469	0.1024	0.1009	0.1058	0.0777	0.0304	0.0231	0.0959	0.0366	0.0445	0.0483	0.0343	0.0671	0.0670	0.0676	0.0665	0.1205	0.0659	0.0654	0.1175	0.1162	0.1205	0.0594	0.0647	0.0210	0.0188	0.0760	0.0654	0.0467	0.0560	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	4955.76	13	chr6	131847856	.	GGTGT	GGT,GGTGTGT,GGTGTGTGT,G,GTTGTGTGT,*	4955.76	.	AC=7,5,1,4,1,1;AF=0.167,0.119,0.024,0.095,0.024,0.024;AN=42;BaseQRankSum=0.318;DP=762;ExcessHet=2.1081;FS=0.398;InbreedingCoeff=-0.0365;MLEAC=7,5,1,4,1,1;MLEAF=0.167,0.119,0.024,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.97;ReadPosRankSum=0.189;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,10,0,0,0,0,0:13:30:0|1:131847856_GGT_G:258,0,30,267,60,327,267,60,327,327,267,60,327,327,327,267,60,327,327,327,327,267,60,327,327,327,327,327:131847856	6	0	4	0
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	136006	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0538	0.0989	0.0432	0.0847	0.0282	0.0395	0.0472	0.0948	0.0001537	4	26028	rs112083427	0.2067	0.2951	0.1908	0.2228	0.4566	0.2057	0.2053	0.4473	0.4435	0.2151	0.4566	0.3745	0.4431	0.4300	0.2950	0.1554	0.2683	0.3748	0.2313	0.2572	0.2287	0.2342	0.3402	0.2291	0.2282	0.3316	0.3280	0.1263	0.1041	0.3402	0.2648	0.2368	0.3166	0.3025	0.2555	0.2464	0.2883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:62,0,36:98:99:.:.:1034,1242,4683,0,2624,2363	1	1	3	2
chr7	21599891	21599891	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon15:c.G2772A:p.M924I,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	1	1517	4	0	0	4	0.00131666	.	.	522867	not_provided|Primary_ciliary_dyskinesia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.013	B	0.006	B	0.140	N	0.993	N	.	.	2.01	T	-1.052	T	0.038	T	0.269	1.795	11.96	5.58	2.797	2.360	19.539	0.111	0.00459500448605	.	.	0.0002	0	0	0	0	0.0001	0.0023	0.0006	0.0001164	18	154602	rs766050153	9.927e-05	9.919e-05	8.582e-05	0.0001	0.0012	8.585e-05	8.054e-05	0.0006	0.0004	2.989e-05	2.241e-05	0	2.522e-05	0	0.0012	7.199e-05	0.0002	0.0005	5.92e-05	5.913e-05	6.43e-05	5.386e-05	0.0004	3.08e-05	2.212e-05	7.31e-05	3.036e-05	0	0	0	0	0.0002	9.448e-05	0	4.412e-05	0.0010	0.0004	0.254	0.16903	T	.	.	.	0.013	0.16609	B	0.006	0.12133	B	0.139766	0.18332	N	0.586420	0.993284	0.23740	N	2	0.54354	M	2.01	0.21291	T	-1.52	0.36980	N	0.365	0.40665	-1.0516	0.13954	T	0.038	0.16246	T	9	0.06870806	0.09755	T	0.004595	0.11346	T	0.111	0.31313	0.432	0.48171	0.119812018005	0.11559	0.26186817357771996	0.26099	.	.	0.393619418144	0.24178	T	0.049374	0.28290	T	-0.440894	0.01278	T	-0.513606	0.20944	T	0.0391772867404332	0.03541	T	0.272073	0.04599	T	0.33415732	0.55809	0.48612612	0.70258	0.33415732	0.55809	0.48612612	0.70259	-3.597	0.17813	T	0.3010667175922627	0.39842	0.365	0.57542	A	.;.;.	.;.;.	2.391690	0.30716	18.52	0.97681644710942994	0.35317	0.60875	0.31321	D	AEFBI	0.293356	0.40400	N	-0.223372224453016	0.32175	1.811835	-0.0716540244837278	0.36568	2.129732	0.00290110653193939	0.09788	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.58	5.58	0.84361	2.550000	0.45472	8.614000	0.77782	0.676000	0.76740	0.289000	0.25224	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.539	0.95259	690	0.58899	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1508.98	40	chr7	21599891	.	G	A	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.600e-01;DP=793;ExcessHet=0.0000;FS=0.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-2.299e+00;SOR=0.591	GT:AD:DP:GQ:PL	0/1:46,62:108:99:1523,0,1052	20	0	1	0
chr7	21617725	21617725	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon23:c.A4202G:p.Q1401R,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	0	1473	48	1	0	50	0.0166889	.	.	252688	not_provided|Primary_ciliary_dyskinesia|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.949	P	0.697	P	0.000	D	1.000	D	.	.	0.27	T	-0.893	T	0.192	T	0.406	3.639	18.51	4.45	0.966	4.901	10.531	0.237	.	0.0010	0.00259585	0.0026	0	0.0006	0	0	0.0017	0.0034	0.0114	0.0023092	357	154602	rs199629774	0.0016	0.0016	0.0013	0.0019	0.0112	0.0015	0.0015	0.0107	0.0104	0.0003	0.0003	0.0049	2.519e-05	0.0001	0.0101	0.0009	0.0018	0.0112	0.0010	0.0010	0.0008	0.0012	0.0083	0.0009	0.0008	0.0063	0.0055	0.0001	0	0.0006	0.0058	0.0002	0	0.0034	0.0011	0.0005	0.0083	0.083	0.33091	T	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999979	0.53665	D	.	.	.	0.27	0.59176	T	-3.39	0.66896	D	0.586	0.62950	-0.8927	0.48696	T	0.192	0.54477	T	9	0.010043949	0.00225	T	.	.	.	0.237	0.54074	.	.	0.511503663882	0.50791	0.20893293679731403	0.20809	.	.	0.381819546223	0.22515	T	0.41079	0.76543	T	-0.368029	0.03695	T	-0.291036	0.45666	T	0.0379698708326417	0.03327	T	0.854315	0.54093	D	0.41109198	0.61492	0.391699	0.63934	0.44120803	0.63481	0.39904547	0.64478	-6.735	0.52073	T	0.5885128790951722	0.65531	0.098	0.16099	B	.;.;.	.;.;.	2.859971	0.37787	20.6	0.99761483852063804	0.85091	0.74822	0.36612	D	AEFBCI	0.597612	0.59133	D	0.25268694175051	0.53772	3.544679	0.276227376072199	0.54154	3.581354	0.999999802838549	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.648885	0.59868	0	.	.	5.6	4.45	0.53365	5.182000	0.64897	4.171000	0.42274	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.923:0.0:0.077:0.0	10.531	0.44164	669	0.61081	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1288.98	33	chr7	21617725	.	A	G	1288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=829;ExcessHet=0.0000;FS=1.370;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=0.611;SOR=0.836	GT:AD:DP:GQ:PL	0/1:76,58:134:99:1303,0,1741	20	0	1	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	5	243	697	577	0	1851	0.792041	.	.	195811	Primary_ciliary_dyskinesia_7|not_provided|DNAH11-related_disorder	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	81624.22	113	chr7	21867834	.	G	GT	81624.22	.	AC=33;AF=0.786;AN=42;BaseQRankSum=0.110;DP=2420;ExcessHet=4.7172;FS=0.684;InbreedingCoeff=-0.2727;MLEAC=33;MLEAF=0.786;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=0.921;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,50:99:99:0|1:21867834_G_GT:1917,0,1903:21867834	0	12	9	0
chr7	30633897	30633898	AA	-	UTR3	GARS1	NM_001316772:c.*37_*38delAA;NM_002047:c.*37_*38delAA	.	.	.	.	338	128	20	2	1034	1058	0.0857143	.	.	311092	Distal_spinal_muscular_atrophy|Peripheral_axonal_neuropathy|not_provided|Charcot-Marie-Tooth_disease_type_2	MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1458	0.1444	0.1211	0.1934	0.0825	0.1342	0.1377	0.1975	0.001921	50	26028	rs1264036389	0.1231	0.1309	0.1212	0.1251	0.1942	0.1226	0.1224	0.1901	0.1884	0.1278	0.0990	0.1304	0.1942	0.0985	0.1716	0.1165	0.1342	0.1800	0.1053	0.1040	0.1039	0.1069	0.2053	0.1039	0.1033	0.1943	0.1899	0.1248	0.0146	0.0971	0.0960	0.1870	0.0699	0.1181	0.0886	0.1355	0.2053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	10366.48	21	chr7	30633896	.	TAA	T,TA	10366.48	.	AC=12,18;AF=0.300,0.450;AN=40;BaseQRankSum=-5.890e-01;DP=815;ExcessHet=3.2961;FS=0.722;InbreedingCoeff=-0.2573;MLEAC=12,18;MLEAF=0.300,0.450;MQ=60.00;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.194;SOR=0.739	GT:AD:DP:GQ:PL	0/2:10,0,7:17:99:116,145,336,0,191,170	0	1	3	1
chr7	92499848	92499849	AA	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	6	11	58	125	26	334	0.933333	.	.	191766	Zellweger_spectrum_disorders|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1286	0.0604	0.1169	0.0878	0.0643	0.1272	0.1007	0.2324	0.0003458	9	26028	rs769875811	0.0771	0.1651	0.0762	0.0779	0.1028	0.0766	0.0764	0.1005	0.0995	0.0376	0.0805	0.0777	0.0503	0.0821	0.0547	0.0775	0.0760	0.1028	0.0033	0.0055	0.0035	0.0031	0.0048	0.0031	0.0030	0.0043	0.0042	0.0012	0	0.0035	0.0006	0.0002	0.0065	0	0.0048	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	22564.18	63	chr7	92499847	.	CAA	C,CA	22564.18	.	AC=1,34;AF=0.024,0.810;AN=42;BaseQRankSum=-6.040e-01;DP=1349;ExcessHet=0.2785;FS=0.000;InbreedingCoeff=0.1429;MLEAC=1,34;MLEAF=0.024,0.810;MQ=60.00;MQRankSum=0.00;QD=22.30;ReadPosRankSum=-1.160e-01;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:1,3,41:45:53:.:.:1149,1055,1107,107,53,0	1	0	0	0
chr7	103989357	103989359	GCC	-	UTR5	RELN	NM_173054:c.-1_-3delGGC;NM_005045:c.-1_-3delGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	301371	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs886061864	0.0017	0.0062	0.0017	0.0017	0.0071	0.0016	0.0016	0.0062	0.0058	0.0047	0.0071	0.0034	0.0030	0.0013	0.0015	0.0013	0.0026	0.0027	0.0016	0.0016	0.0015	0.0017	0.0040	0.0014	0.0014	0.0026	0.0025	0.0031	0	0.0022	0	0.0040	0.0003	0.0036	0.0006	0.0034	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	39463.68	54	chr7	103989356	.	TGCC	TGCCGCCGCC,T,TGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCC	39463.68	.	AC=26,1,4,1,2;AF=0.619,0.024,0.095,0.024,0.048;AN=42;BaseQRankSum=-4.950e-01;DP=1873;ExcessHet=3.5521;FS=0.662;InbreedingCoeff=-0.2353;MLEAC=25,1,4,1,2;MLEAF=0.595,0.024,0.095,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=33.19;ReadPosRankSum=-4.170e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/3:35,0,0,32,0,0:67:99:1174,1285,2723,1285,2723,2723,0,1438,1438,1342,1285,2723,2723,1438,2723,1285,2723,2723,1438,2723,2723	0	9	5	0
chr7	107905465	107905465	A	T	exonic	DLD	.	synonymous SNV	DLD:NM_001289750:exon5:c.A246T:p.I82I	Dihydrolipoamide dehydrogenase deficiency, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	140798	Leigh_syndrome|not_provided|not_specified|Pyruvate_dehydrogenase_complex_deficiency|Pyruvate_dehydrogenase_E3_deficiency	MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019169,MedGen:C0034345,OMIM:PS312170,Orphanet:765,Orphanet:79243|MONDO:MONDO:0009529,MedGen:C5574660,OMIM:246900,Orphanet:2394,Orphanet:765	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048	0.00179712	0.0033	0.0014	0.0036	0	0.0003	0.0051	0.0066	0	0.0035122	543	154602	rs61749952	0.0050	0.0050	0.0051	0.0050	0.0060	0.0049	0.0049	0.0059	0.0058	0.0011	0.0051	0.0039	0	0.0005	0.0007	0.0060	0.0046	2.319e-05	0.0045	0.0045	0.0048	0.0042	0.0098	0.0042	0.0041	0.0085	0.0080	0.0016	0	0.0098	0.0037	0	0.0003	0.0102	0.0063	0.0076	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	1	1	0.02381	1134.98	43	chr7	107905465	.	A	T	1134.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.015;DP=871;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=0.230;SOR=0.853	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1149,0,1019	20	0	1	0
chr7	114663436	114663436	-	T	intronic	FOXP2	.	.	.	Speech-language disorder-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177727	Inborn_genetic_diseases|not_specified|Childhood_apraxia_of_speech	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3236	0.209465	0.3636	0.1063	0.2943	0.1724	0.4590	0.4369	0.3610	0.3263	0.0001153	3	26028	rs1478553257	0.3837	0.3970	0.3848	0.3826	0.4175	0.3828	0.3824	0.4164	0.4159	0.0938	0.2799	0.2759	0.1190	0.4085	0.1994	0.4175	0.3570	0.3056	0.3203	0.3199	0.3227	0.3178	0.4529	0.3179	0.3169	0.4486	0.4469	0.1010	0.3819	0.3039	0.2802	0.1440	0.4542	0.1910	0.4529	0.2949	0.3137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	7359.72	33	chr7	114663436	.	A	AT	7359.72	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.700e-02;DP=979;ExcessHet=0.0097;FS=0.561;InbreedingCoeff=0.4750;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=-3.520e-01;SOR=0.771	GT:AD:DP:GQ:PL	1/1:2,54:58:99:1482,117,0	14	3	4	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P,	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	.	2	82	476	962	0	2400	0.936037	.	.	135324	not_specified|Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.0	B	.	.	1.000	P	1.15	L	-3.2	D	-0.966	T	0.000	T	0.052	-0.251	2.795	-3.35	-1.287	-1.288	2.721	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.7619	57575.44	141	chr7	127611134	.	T	G	57575.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=0.218;DP=2509;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=23.77;ReadPosRankSum=0.240;SOR=0.702	GT:AD:DP:GQ:PL	1/1:0,121:121:99:4057,363,0	1	12	8	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	2137883	Inborn_genetic_diseases|not_provided|PODXL-related_disorder	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2593.39	62	chr7	131505863	.	C	T	2593.39	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.173e+00;DP=1634;ExcessHet=17.4423;FS=182.300;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.09;ReadPosRankSum=0.956;SOR=11.937	GT:AD:DP:GQ:PL	0/1:38,31:69:99:407,0,675	6	0	15	0
chr8	10610127	10610127	T	C	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.A3971G:p.E1324G,	Occult macular dystrophy, Autosomal dominant	.	2	62	35	14	113	176	0.336898	.	.	312269	not_specified|Occult_macular_dystrophy|Retinitis_pigmentosa_88|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	.	.	1.000	P	0	N	2.94	T	-0.960	T	0.013	T	0.028	0.469	6.544	-1.85	-0.966	1.133	7.767	0.034	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs4240659	0.1222	0.1328	0.1202	0.1242	0.3291	0.1216	0.1214	0.3238	0.3216	0.1195	0.1370	0.1586	0.3291	0.0992	0.1560	0.1126	0.1374	0.1283	0.1626	0.1710	0.1669	0.1580	0.3056	0.1607	0.1599	0.2926	0.2873	0.1751	0.1340	0.1808	0.1843	0.3056	0.0901	0.2045	0.1541	0.1677	0.1281	0.127	0.27080	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	0.55	0.14455	N	2.94	0.09728	T	-1.26	0.31778	N	0.059	0.03069	-0.9596	0.39255	T	0.013	0.05081	T	8	0.0013740659	0.00015	T	.	.	.	0.034	0.08419	.	.	0.0551355673512	0.04727	0.09043956122950329	0.08976	.	.	0.193922996521	0.00302	T	0.036747	0.24220	T	-0.429672	0.01489	T	-0.85497	0.00899	T	0.0430045104408474	0.04238	T	0.292471	0.05369	T	0.03615358	0.04393	0.05939324	0.11139	0.03615358	0.04393	0.05939324	0.11139	-7.353	0.56572	T	.	.	0.069	0.03093	B	.	.	-0.075415	0.03791	0.799	0.55067947662932093	0.05266	0.02637	0.07234	N	AEFDBI	0.022755	0.01177	N	-1.76511400421318	0.00636	0.02744097	-1.81737224775769	0.00705	0.03140268	1.68491044415924E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.91	-1.85	0.07363	-0.294000	0.08346	-1.859000	0.04598	-2.048000	0.00420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1404:0.0:0.8596	7.767	0.28151	794	0.45591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	157707.19	230	chr8	10610127	.	T	C,TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	157707.19	.	AC=9,14;AF=0.214,0.333;AN=42;BaseQRankSum=-1.191e+00;DP=7662;ExcessHet=5.5923;FS=0.530;InbreedingCoeff=-0.2494;MLEAC=9,14;MLEAF=0.214,0.333;MQ=59.74;MQRankSum=-2.640e-01;QD=29.56;ReadPosRankSum=-2.810e-01;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,474:474:99:.:.:20901,20938,20980,1384,1426,0	3	1	5	0
chr8	10610127	10610127	-	CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.E1324_G2392delinsGTKVIEGLQEERVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*,	Occult macular dystrophy, Autosomal dominant	.	2	62	35	14	113	176	0.336898	.	.	490785	Occult_macular_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019748	514	26028	rs369606728	0.3003	0.2931	0.3009	0.2996	0.3367	0.2994	0.2990	0.3356	0.3352	0.0668	0.1268	0.2984	0.0016	0.2804	0.2689	0.3367	0.2875	0.1937	0.2690	0.2723	0.2800	0.2574	0.3823	0.2665	0.2655	0.3781	0.3764	0.1017	0.3651	0.1960	0.3263	0.0039	0.2681	0.3259	0.3823	0.2752	0.1849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	157707.19	230	chr8	10610127	.	T	C,TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	157707.19	.	AC=9,14;AF=0.214,0.333;AN=42;BaseQRankSum=-1.191e+00;DP=7662;ExcessHet=5.5923;FS=0.530;InbreedingCoeff=-0.2494;MLEAC=9,14;MLEAF=0.214,0.333;MQ=59.74;MQRankSum=-2.640e-01;QD=29.56;ReadPosRankSum=-2.810e-01;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,474:474:99:.:.:20901,20938,20980,1384,1426,0	3	1	5	0
chr8	27803549	27803549	-	ACAC	UTR3	ESCO2	NM_001017420:c.*111_*112insACAC	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	314100	Roberts-SC_phocomelia_syndrome|not_provided	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs144484866	0.2917	0.2737	0.2932	0.2903	0.3319	0.2909	0.2906	0.3158	0.3093	0.1909	0.2424	0.3492	0.0874	0.2780	0.3319	0.3039	0.2895	0.2493	0.3026	0.3027	0.3028	0.3024	0.3550	0.3003	0.2993	0.3512	0.3497	0.2176	0.2777	0.3136	0.4715	0.0718	0.3370	0.3690	0.3550	0.3395	0.2897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	1747.58	4	chr8	27803549	.	T	TACAC,TAC	1747.58	.	AC=6,8;AF=0.214,0.286;AN=28;BaseQRankSum=0.431;DP=246;ExcessHet=0.0134;FS=6.540;InbreedingCoeff=0.2199;MLEAC=7,10;MLEAF=0.250,0.357;MQ=59.93;MQRankSum=0.00;QD=10.85;ReadPosRankSum=1.07;SOR=1.084	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:1,0,2:3:27:.:.:63,66,99,0,33,27	5	2	1	7
chr8	27803549	27803549	-	AC	UTR3	ESCO2	NM_001017420:c.*111_*112insAC	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	313989	Roberts-SC_phocomelia_syndrome|not_provided	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs144484866	0.4041	0.4118	0.4055	0.4027	0.4982	0.4031	0.4027	0.4913	0.4885	0.3718	0.4614	0.3295	0.4982	0.3682	0.3292	0.4060	0.3981	0.3697	0.4399	0.4405	0.4415	0.4382	0.6505	0.4370	0.4359	0.6320	0.6245	0.4337	0.5066	0.5022	0.2907	0.6505	0.3778	0.3655	0.4312	0.4163	0.4347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	1747.58	4	chr8	27803549	.	T	TACAC,TAC	1747.58	.	AC=6,8;AF=0.214,0.286;AN=28;BaseQRankSum=0.431;DP=246;ExcessHet=0.0134;FS=6.540;InbreedingCoeff=0.2199;MLEAC=7,10;MLEAF=0.250,0.357;MQ=59.93;MQRankSum=0.00;QD=10.85;ReadPosRankSum=1.07;SOR=1.084	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:1,0,2:3:27:.:.:63,66,99,0,33,27	5	2	1	7
chr8	41716938	41716938	G	A	intronic	ANK1	.	.	.	Spherocytosis, type 1, Autosomal dominant	.	0	1488	34	0	0	34	0.0112957	.	.	309154	Hereditary_spherocytosis_type_1|Spherocytosis|not_provided	MONDO:MONDO:0008447,MedGen:C2674218,OMIM:182900,Orphanet:822|Human_Phenotype_Ontology:HP:0004444,Human_Phenotype_Ontology:HP:0004816,MedGen:C0553720|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.00239617	0.0026	0.0002	0.0004	0	0	0.0022	0.0022	0.0096	0.0023027	356	154602	rs201598401	0.0020	0.0020	0.0017	0.0023	0.0089	0.0019	0.0019	0.0083	0.0081	0.0003	0.0008	0.0124	0	0.0001	0.0079	0.0014	0.0030	0.0089	0.0014	0.0014	0.0011	0.0017	0.0106	0.0012	0.0012	0.0083	0.0074	9.62e-05	0	0.0008	0.0150	0	0	0	0.0014	0.0005	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1356.98	33	chr8	41716938	.	G	A	1356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.739;DP=821;ExcessHet=0.0000;FS=2.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-9.810e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1371,0,1311	20	0	1	0
chr8	143727792	143727792	C	A	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon5:c.G1669T:p.G557C,	Amelogenesis imperfecta, type III, Autosomal dominant	.	9	1502	10	1	0	12	0.00397878	.	.	790784	FAM83H-related_disorder|Amelogenesis_imperfecta,_hypocalcification_type|not_provided	.|MONDO:MONDO:0968955,MedGen:C0399376,Orphanet:100032,Orphanet:88661|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.985	D	0.628	P	0.004	U	0.999	N	0.895	L	2.42	T	-1.012	T	0.054	T	0.348	0.901	8.661	2.03	0.781	0.935	8.641	0.073	.	.	0.000199681	0.0057	0	0	0	.	0.0357	0	0.0022	0.0004528	70	154602	rs312262803	0.0027	0.0024	0.0026	0.0027	0.0044	0.0026	0.0026	0.0028	0.0028	0.0005	0.0021	0.0034	0	0.0017	0.0044	0.0029	0.0025	0.0016	0.0018	0.0018	0.0017	0.0018	0.0027	0.0016	0.0015	0.0024	0.0023	0.0005	0	0.0016	0.0026	0	0.0014	0.0068	0.0027	0.0028	0.0010	0.004	0.65419	D	0.033	0.53072	D	0.985	0.61118	D	0.628	0.51677	P	0.003643	0.00976	U	490.647000	0.999478	0.21134	N	2.24	0.63355	M	2.42	0.15376	T	-2.33	0.51646	N	0.385	0.42639	-1.0119	0.26322	T	0.054	0.22808	T	10	0.0055520833	0.00123	T	.	.	.	0.073	0.21317	.	.	0.043077524339	0.03247	0.2261153594599419	0.22526	1.00671276343	0.74603	0.878267168999	0.93726	D	0.097161	0.39971	T	-0.487841	0.00668	T	-0.467976	0.25735	T	0.0575124000905681	0.06771	T	.	.	.	0.17884576	0.38926	0.091350354	0.21473	0.17884576	0.38926	0.091350354	0.21473	-6.66	0.51508	T	.	.	0.175	0.38227	B	.	.	2.426817	0.31214	18.67	0.99383089065726871	0.61979	0.28214	0.23492	N	AEFDBCI	0.158577	0.28425	N	-0.229335003188708	0.31936	1.795754	-0.361278780663449	0.26162	1.443272	0.998224208389481	0.36603	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.32	2.03	0.25714	1.882000	0.39283	.	.	0.489000	0.22316	0.930000	0.32276	0.737000	0.26456	0.007000	0.07825	0.0:0.7073:0.0:0.2927	8.641	0.33140	884	0.28482	.	.	.	.	.	.	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	0.02381	793.98	21	chr8	143727792	.	C	A	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e+00;DP=541;ExcessHet=0.0000;FS=1.057;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-5.460e-01;SOR=0.901	GT:AD:DP:GQ:PL	0/1:22,32:54:99:808,0,600	20	0	1	0
chr8	143923335	143923335	G	A	exonic	PLEC	.	synonymous SNV	PLEC:NM_201378:exon31:c.C6552T:p.T2184T	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	0	1504	18	0	0	18	0.00594845	.	.	193911	not_specified|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|not_provided	MedGen:CN169374|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00159744	0.0013	0	0.0013	0.0001	0	0.0018	0.0040	0.0013	0.0011966	185	154602	rs144242254	0.0013	0.0013	0.0013	0.0013	0.0033	0.0013	0.0012	0.0022	0.0018	0.0005	0.0014	0.0025	0	1.979e-05	0.0033	0.0014	0.0013	0.0012	0.0010	0.0010	0.0010	0.0009	0.0020	0.0008	0.0008	0.0014	0.0012	0.0003	0.0033	0.0020	0.0026	0	0	0.0034	0.0011	0.0038	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.04762	6613.11	68	chr8	143923335	.	G	A	6613.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.33;DP=1809;ExcessHet=0.1072;FS=0.542;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=1.59;SOR=0.621	GT:AD:DP:GQ:PL	0/1:148,124:272:99:3349,0,3781	19	0	2	0
chr8	144511990	144511990	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon19:c.G3314A:p.G1105D,	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	.	0	1463	53	6	0	65	0.0217319	.	.	138890	not_specified|Hereditary_cancer-predisposing_syndrome|not_provided|Baller-Gerold_syndrome	MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00359425	0.0054	0.0009	0.0049	0	0.0009	0.0072	0.0078	0.0057	0.0046636	721	154602	rs36078464	0.0054	0.0054	0.0053	0.0056	0.0120	0.0053	0.0053	0.0097	0.0089	0.0008	0.0044	0.0059	0	0.0008	0.0120	0.0060	0.0056	0.0055	0.0038	0.0038	0.0041	0.0036	0.0059	0.0036	0.0035	0.0055	0.0053	0.0010	0	0.0050	0.0037	0	0.0008	0.0136	0.0059	0.0061	0.0048	.	.	.	0.552	0.18125	T	0.024	0.19075	B	0.028	0.21332	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.316	0.35620	.	.	.	.	.	.	.	0.00393191	0.00075	T	.	.	.	.	.	.	.	0.724635435794	0.72219	0.44854050858578554	0.44772	.	.	0.363676905632	0.19920	T	0.00702	0.17042	T	-0.294703	0.09170	T	-0.192929	0.55314	T	.	.	.	0.70353	0.31362	T	0.16268104	0.36360	0.17259818	0.39527	0.15574713	0.35184	0.1975136	0.43536	-5.937	0.45749	T	0.30497957848529705	0.40258	0.135	0.30791	B	.;.;.	.;.;.	1.028931	0.14089	10.66	0.75393395622667547	0.11058	0.35856	0.25399	N	AEFDGBHCI	0.092741	0.18772	N	.	.	.	.	.	.	0.999999938888088	0.74766	0.283894	0.04978	0	0.278934	0.05175	0	0.299256	0.05649	0	0.221052	0.04502	0	.	.	5.32	3.47	0.38831	0.183000	0.16729	0.890000	0.22465	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.7099:0.1938:0.0962	8.553	0.32628	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.04762	2759.11	82	chr8	144511990	.	C	T	2759.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.472e+00;DP=1654;ExcessHet=0.1072;FS=0.548;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=1.42;SOR=0.620	GT:AD:DP:GQ:PL	0/1:44,54:98:99:1390,0,1311	19	0	2	0
chr9	2622147	2622155	CGGCGGCGG	-	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	134	297	245	137	709	1228	0.466307	.	.	274730	not_specified|not_provided|Congenital_cerebellar_hypoplasia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3265	0.30631	0.1908	0.1477	0.2045	0.25	0.125	0.2247	0.2105	0.1797	0.0002717	42	154602	rs369552432	0.3801	0.3475	0.3852	0.3748	0.4136	0.3792	0.3788	0.4075	0.4050	0.1944	0.3970	0.2985	0.4136	0.3827	0.2810	0.3964	0.3561	0.2349	0.3293	0.3297	0.3288	0.3298	0.4202	0.3269	0.3259	0.4055	0.4020	0.1981	0.1914	0.4141	0.2980	0.4202	0.3595	0.3483	0.3884	0.3335	0.2385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	30379.9	49	chr9	2622146	.	ACGGCGGCGG	ACGGCGGCGGCGG,A	30379.9	.	AC=17,12;AF=0.405,0.286;AN=42;BaseQRankSum=0.034;DP=1277;ExcessHet=1.3217;FS=0.563;InbreedingCoeff=-0.0027;MLEAC=17,12;MLEAF=0.405,0.286;MQ=60.00;MQRankSum=0.00;QD=28.77;ReadPosRankSum=0.770;SOR=0.643	GT:AD:DP:GQ:PL	0/2:32,0,26:58:99:996,1092,2436,0,1344,1265	2	5	5	0
chr9	72836156	72836156	A	G	UTR3	TMC1	NM_138691:c.*183A>G	.	.	Deafness, autosomal dominant 36, Autosomal dominant;Deafness, autosomal recessive 7, Autosomal recessive	.	39	1431	48	4	0	56	0.0191912	.	.	313269	Autosomal_recessive_nonsyndromic_hearing_loss_7|Autosomal_dominant_nonsyndromic_hearing_loss_36	MONDO:MONDO:0010967,MedGen:C1832978,OMIM:600974,Orphanet:90636|MONDO:MONDO:0011708,MedGen:C1847626,OMIM:606705,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0139776	.	.	.	.	.	.	.	.	0.0053169	822	154602	rs71507808	0.0278	0.0331	0.0287	0.0271	0.0352	0.0274	0.0273	0.0347	0.0345	0.0069	0.0268	0.0441	0	0.0192	0.0194	0.0352	0.0312	0.0075	0.0248	0.0249	0.0261	0.0235	0.0384	0.0242	0.0239	0.0358	0.0348	0.0066	0.0230	0.0384	0.0499	0	0.0150	0.0241	0.0361	0.0347	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2012.98	73	chr9	72836156	.	A	G	2012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.333e+00;DP=1391;ExcessHet=0.0000;FS=4.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=2.36;SOR=0.349	GT:AD:DP:GQ:PL	0/1:75,70:145:99:2027,0,2336	20	0	1	0
chr9	95469137	95469137	C	G	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_001354918:exon13:c.G1708C:p.V570L	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	566045	Gorlin_syndrome|See_cases|PTCH1-related_disorder|not_provided|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|.|.|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.601	P	0.334	B	0.000	D	1.000	D	2.425	M	-2.69	D	0.428	D	0.738	D	0.55	3.600	18.33	5.51	2.586	7.394	19.420	0.508	0.113178971592	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765258547	1.779e-05	1.779e-05	1.225e-05	2.338e-05	0.0001	1.237e-05	1.051e-05	7.997e-05	6.236e-05	0	0	0	0	0	0	1.169e-05	1.656e-05	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.035	0.44358	D	0.119	0.36101	T	0.277	0.39346	B	0.158	0.42203	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.045	0.56016	M	-2.71	0.90622	D	-1.55	0.41809	N	0.666	0.69387	0.428	0.89510	D	0.738	0.91029	D	10	0.3622725	0.52826	T	0.113179	0.79159	D	0.508	0.78848	0.431	0.48007	0.55347300972	0.55005	0.6577285813386012	0.65709	0.597372302995	0.54935	0.773280441761	0.77916	T	0.449426	0.79093	T	-0.013744	0.49739	T	-0.0208503	0.68972	D	0.25146296623296	0.22938	T	0.907909	0.71446	D	0.31692427	0.54379	0.27072743	0.52966	0.31692427	0.54379	0.27072743	0.52965	-11.078	0.80496	D	0.3990898662555778	0.49118	0.749	0.75012	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.122737	0.61634	24.4	0.9957970483519929	0.72921	0.99807	0.99597	D	AEFDBI	0.902253	0.84993	D	0.349131819777149	0.58694	4.043214	0.440012433563282	0.64079	4.654927	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.51	5.51	0.81769	7.475000	0.80038	7.513000	0.59647	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.420	0.94711	358	0.85037	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1646.98	34	chr9	95469137	.	C	G	1646.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.162e+00;DP=835;ExcessHet=0.0000;FS=2.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-4.740e-01;SOR=1.000	GT:AD:DP:GQ:PL	0/1:57,62:119:99:1661,0,1489	20	0	1	0
chr9	117713024	117713024	A	G	exonic	TLR4	.	nonsynonymous SNV	TLR4:NM_138557:exon2:c.A296G:p.D99G	.	.	424	964	125	9	0	143	0.0690488	.	.	21699	Pericementitis|COPD,_severe_early_onset|Susceptibility_to_severe_coronavirus_disease_(COVID-19)|TLR4_POLYMORPHISM	MeSH:D010518,MedGen:C0031051|MONDO:MONDO:0011751,MedGen:C1847014|.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	0.05	D	0.026	B	0.021	B	0.173	N	0.000	A	0.955	L	2.03	T	-1.094	T	0.004	T	0.261	1.511	11.00	4.64	1.023	2.147	11.730	0.079	.	0.0639	0.0599042	0.0599	0.0719	0.0238	0.0003	0.1082	0.0541	0.0765	0.1119	0.0578194	8939	154602	rs4986790	0.0621	0.0621	0.0610	0.0632	0.1097	0.0618	0.0616	0.1079	0.1071	0.0793	0.0310	0.0658	0.0004	0.1007	0.0466	0.0592	0.0672	0.1097	0.0660	0.0661	0.0637	0.0684	0.1203	0.0649	0.0645	0.1122	0.1090	0.0771	0.0011	0.0460	0.0697	0.0008	0.0948	0.0340	0.0614	0.0579	0.1203	0.093	0.31532	T	0.085	0.42086	T	0.026	0.19406	B	0.021	0.19346	B	0.173107	0.17317	N	0.597876	7.57848e-10	0.08975	A	2.415	0.69758	M	2.03	0.20959	T	-2.11	0.48020	N	0.07	0.04307	-1.0936	0.04959	T	0.004	0.01261	T	9	0.0037297606	0.00069	T	.	.	.	0.079	0.23065	.	.	.	.	0.48743419270188604	0.48663	0.113826588391	0.12838	0.292542397976	0.09293	T	0.318119	0.68952	T	-0.572122	0.00215	T	-0.507737	0.21548	T	0.0228995737007571	0.01012	T	0.564843	0.19943	T	0.1947077	0.41231	0.08066178	0.18266	0.1947077	0.41231	0.08066178	0.18265	-4.364	0.29064	T	.	.	0.072	0.13174	B	.;.;.	.;.;.	1.137265	0.15243	11.70	0.94360592567929846	0.24717	0.20395	0.21025	N	AEFGBI	0.133002	0.25251	N	-0.822007630816861	0.12749	0.6234277	-0.78870277529561	0.14772	0.7736058	0.99999848033811	0.74766	0.67177	0.52595	0	0.588015	0.36545	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.78	4.64	0.57399	2.660000	0.46414	2.805000	0.34874	-0.054000	0.16847	0.013000	0.18845	0.004000	0.18990	0.023000	0.12082	0.9311:0.0:0.0689:0.0	11.730	0.50997	906	0.23090	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.07143	7306.68	34	chr9	117713024	.	A	G	7306.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.650e+00;DP=1215;ExcessHet=0.3300;FS=0.519;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=0.158;SOR=0.642	GT:AD:DP:GQ:PL	0/1:81,79:160:99:1969,0,1996	18	0	3	0
chr9	117713324	117713324	C	T	exonic	TLR4	.	nonsynonymous SNV	TLR4:NM_138557:exon2:c.C596T:p.T199I	.	.	428	969	121	4	0	129	0.0624093	.	.	21700	TLR4_POLYMORPHISM|COPD,_severe_early_onset|not_provided	.|MONDO:MONDO:0011751,MedGen:C1847014|MedGen:C3661900	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.177	B	0.066	B	0.269	N	0.000	A	1.185	L	5.4	T	-0.956	T	0.001	T	0.244	0.479	6.602	0.434	-0.179	-0.130	5.616	0.016	.	0.0470	0.0407348	0.0552	0.0138	0.0214	0.0003	0.1094	0.0556	0.0744	0.1088	0.0535504	8279	154602	rs4986791	0.0625	0.0625	0.0614	0.0636	0.1051	0.0622	0.0621	0.1033	0.1025	0.0149	0.0282	0.0519	0.0004	0.1018	0.0473	0.0626	0.0648	0.1051	0.0493	0.0494	0.0463	0.0525	0.1128	0.0484	0.0480	0.1049	0.1018	0.0154	0.0362	0.0407	0.0513	0.0010	0.0963	0.0340	0.0642	0.0446	0.1128	0.024	0.47745	D	0.09	0.40586	T	0.177	0.28923	B	0.066	0.27432	B	0.268996	0.15165	N	0.654650	9.78394e-12	0.08975	A	1.305	0.32671	L	5.4	0.01016	T	-2.16	0.48850	N	0.063	0.03502	-0.9557	0.39970	T	0.001	0.00188	T	9	0.0031039119	0.00052	T	.	.	.	0.016	0.02506	.	.	.	.	0.395643390028774	0.39479	0.116543839344	0.13151	0.373779565096	0.21373	T	0.247	0.61680	T	-0.636684	0.00087	T	-0.600476	0.12772	T	0.00789992968245795	0.00093	T	0.511749	0.16382	T	0.2078731	0.43007	0.12742466	0.30673	0.2078731	0.43007	0.12742466	0.30673	-5.091	0.38170	T	.	.	0.176	0.38534	B	.;.;.	.;.;.	0.172693	0.05614	2.067	0.9748116570717037	0.34188	0.13878	0.18101	N	AEFGBI	0.118465	0.23163	N	-0.973601536453406	0.09170	0.4329101	-1.01640252802193	0.09424	0.4688099	0.999927919885702	0.46280	0.722319	0.85440	0	0.573888	0.26702	0	0.573888	0.23631	0	0.735409	0.98432	0	.	.	5.7	0.434	0.15752	-0.201000	0.09466	-1.182000	0.06094	-0.927000	0.02165	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.2407:0.4755:0.2213:0.0626	5.616	0.16712	906	0.23090	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.07143	5398.68	34	chr9	117713324	.	C	T	5398.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.04;DP=1060;ExcessHet=0.3300;FS=0.528;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=0.189;SOR=0.742	GT:AD:DP:GQ:PL	0/1:80,67:147:99:1760,0,2027	18	0	3	0
chr9	131045555	131045555	C	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon8:c.C1414A:p.H472N,	Cortical malformations, occipital, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	264315	Inborn_genetic_diseases|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.48	T	0.012	B	0.038	B	0.327	N	1.000	N	0.08	N	0.6	T	-1.028	T	0.069	T	0.188	-0.113	3.446	2.76	0.563	0.505	4.683	0.073	0.0288603285702	7.7e-05	.	5.776e-05	0	8.648e-05	0	0	6.006e-05	0	0.0001	4.53e-05	7	154602	rs145387373	6.704e-05	6.704e-05	6.671e-05	6.739e-05	0.0036	5.629e-05	5.172e-05	0.0024	0.0020	0	0.0001	0	0	3.755e-05	0.0036	4.406e-05	0.0001	0.0002	2.626e-05	2.624e-05	3.854e-05	1.342e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0.0005	0	0.445	0.09128	T	0.5	0.11190	T	0.012	0.16265	B	0.038	0.23361	B	0.327304	0.14172	N	0.712512	1	0.08975	N	0.295	0.10161	N	0.6	0.53731	T	-1.63	0.39119	N	0.276	0.31253	-1.0276	0.21233	T	0.069	0.28379	T	10	0.09288862	0.16395	T	0.02886	0.51467	D	0.073	0.21317	.	.	0.492336895404	0.48868	0.29340415923248847	0.29253	0.497249836479	0.48222	0.48203265667	0.36336	T	0.01972	0.15658	T	-0.381775	0.03036	T	-0.531124	0.19173	T	0.0154701301234127	0.00349	T	0.247375	0.03654	T	0.09379812	0.22037	0.07566095	0.16681	0.09379812	0.22037	0.07566095	0.16681	-8.287	0.63008	D	.	.	0.077	0.06571	B	.	.	2.005022	0.25474	16.78	0.72252446194154385	0.09908	0.13644	0.17972	N	AEFDBCI	0.184432	0.31176	N	-0.837410610723695	0.12362	0.6021044	-0.753006534780126	0.15649	0.8240599	0.999979196755915	0.50053	0.695654	0.57023	0	0.573078	0.20572	0	0.723109	0.80598	0	0.421638	0.06922	2	.	.	4.6	2.76	0.31527	0.096000	0.14986	1.035000	0.23510	0.599000	0.40250	0.000000	0.06391	0.353000	0.24482	0.119000	0.19126	0.0:0.6238:0.1801:0.1961	4.683	0.12129	421	0.81399	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1445.98	35	chr9	131045555	.	C	A	1445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.480e-01;DP=821;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-2.000e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/1:59,63:122:99:1460,0,1385	20	0	1	0
chr9	131069664	131069664	C	T	intronic	LAMC3	.	.	.	Cortical malformations, occipital, Autosomal recessive	.	5	1503	13	1	0	15	0.00496524	0	0	191916	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.00219649	0.0003	0	0	0	0	0.0006	0	9.775e-05	0.0008667	134	154602	rs199535979	0.0047	0.0047	0.0046	0.0049	0.0058	0.0046	0.0046	0.0052	0.0051	0.0007	0.0019	0.0031	0	0.0008	0.0058	0.0053	0.0052	0.0048	0.0035	0.0035	0.0035	0.0034	0.0066	0.0032	0.0031	0.0050	0.0048	0.0011	0.0011	0.0037	0.0017	0	0.0002	0.0034	0.0055	0.0057	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1956.98	45	chr9	131069664	.	C	T	1956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.228;DP=904;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.869;SOR=0.729	GT:AD:DP:GQ:PL	0/1:72,76:148:99:1971,0,1953	20	0	1	0
chr9	131072668	131072668	G	C	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.G3250C:p.E1084Q,	Cortical malformations, occipital, Autosomal recessive	.	7	1498	15	2	0	19	0.00630182	.	.	192120	not_specified|not_provided|Occipital_pachygyria_and_polymicrogyria|LAMC3-related_disorder|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.411	B	0.241	B	0.169	N	1.000	N	1.79	L	1.61	T	-1.046	T	0.072	T	0.061	0.436	6.366	1.1	0.014	1.838	8.466	0.050	0.0206708405732	0.0032	0.00219649	0.0035	0.0005	0.0022	0	0.0004	0.0044	0.0037	0.0052	0.0033376	516	154602	rs146221263	0.0053	0.0053	0.0051	0.0054	0.0060	0.0052	0.0051	0.0058	0.0058	0.0007	0.0022	0.0034	0	0.0008	0.0060	0.0059	0.0057	0.0053	0.0035	0.0035	0.0035	0.0034	0.0068	0.0032	0.0031	0.0050	0.0048	0.0011	0.0011	0.0038	0.0017	0	0.0002	0.0034	0.0054	0.0062	0.0068	0.307	0.14159	T	0.45	0.12957	T	0.411	0.35101	B	0.241	0.38645	B	0.168944	0.17432	N	0.589854	1	0.08975	N	1.75	0.45442	L	1.61	0.28391	T	-0.63	0.18459	N	0.3	0.33904	-1.0465	0.15389	T	0.072	0.29195	T	10	0.005625963	0.00125	T	0.020671	0.43310	T	0.050	0.13987	.	.	0.41921206133	0.41539	0.3882043185247983	0.38735	0.475146259266	0.46692	0.320394456387	0.13481	T	0.020356	0.16045	T	-0.638564	0.00085	T	-0.687695	0.06524	T	0.00534322147274845	0.00058	T	0.642236	0.25428	T	0.043006912	0.06626	0.028478721	0.01088	0.043006912	0.06626	0.028478721	0.01088	-5.953	0.45884	T	.	.	0.097	0.15698	B	.	.	0.386080	0.07578	4.234	0.9241350103392354	0.21828	0.42071	0.26797	N	AEFDGBI	0.174243	0.30136	N	-0.692388602980773	0.16238	0.8254968	-0.772611837061427	0.15167	0.7963558	0.999988875375155	0.51787	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.07	1.1	0.19578	1.493000	0.35214	0.074000	0.14299	-0.105000	0.15698	0.070000	0.22072	0.000000	0.08366	0.005000	0.06747	0.4048:0.0:0.5952:0.0	8.466	0.32119	385	0.83500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.02381	1139.98	40	chr9	131072668	.	G	C	1139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.526;DP=865;ExcessHet=0.0000;FS=1.827;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-5.030e-01;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,45:82:99:0|1:131072662_A_G:1154,0,873:131072662	20	0	1	0
chr9	131072797	131072797	G	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon19:c.G3379A:p.E1127K,	Cortical malformations, occipital, Autosomal recessive	.	0	1503	18	1	0	20	0.00660939	.	.	192121	Inborn_genetic_diseases|not_specified|Occipital_pachygyria_and_polymicrogyria|not_provided|LAMC3-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0013583,MedGen:C3279875,OMIM:614115,Orphanet:280640|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.049	B	0.016	B	0.127	N	0.981	N	1.95	M	1.73	T	-1.087	T	0.044	T	0.326	3.107	16.38	4.0	2.476	1.907	10.794	0.025	0.00843649947168	0.0035	0.00219649	0.0039	0.0006	0.0029	0	0.0007	0.0050	0.0055	0.0057	0.0035316	546	154602	rs140955110	0.0053	0.0053	0.0051	0.0054	0.0059	0.0052	0.0051	0.0058	0.0058	0.0007	0.0023	0.0034	0	0.0008	0.0050	0.0059	0.0057	0.0053	0.0035	0.0035	0.0035	0.0034	0.0070	0.0032	0.0031	0.0052	0.0048	0.0011	0.0011	0.0038	0.0017	0	0.0002	0.0034	0.0054	0.0062	0.0070	0.117	0.28271	T	0.463	0.12491	T	0.049	0.22227	B	0.016	0.17743	B	0.126841	0.18790	N	0.578659	0.980992	0.25072	N	2.085	0.57729	M	1.73	0.26445	T	-1.18	0.30140	N	0.388	0.42931	-1.0866	0.06120	T	0.044	0.18742	T	10	0.0077517927	0.00176	T	0.008436	0.22332	T	0.025	0.05312	.	.	0.477065420593	0.47334	0.22094178837759396	0.22009	0.171318100332	0.19297	0.352000117302	0.18216	T	0.037436	0.24475	T	-0.480332	0.00736	T	-0.460406	0.26554	T	0.0072671593781635	0.00083	T	0.824718	0.48674	T	0.082769334	0.19083	0.10614104	0.25529	0.082769334	0.19082	0.10614104	0.25529	-3.825	0.21178	T	.	.	0.076	0.06069	B	.	.	2.719658	0.35566	19.93	0.99822019021662456	0.90502	0.67135	0.33323	D	AEFDGBCI	0.206231	0.33251	N	-0.0884116095711559	0.37901	2.21174	0.0421517654310749	0.41695	2.509211	0.999999768437312	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.97	4.0	0.45673	1.472000	0.34984	8.128000	0.76646	0.676000	0.76740	0.952000	0.33172	1.000000	0.68203	0.293000	0.24333	0.0:0.2903:0.7097:0.0	10.794	0.45648	385	0.83500	.	.	.	.	.	.	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	0.02381	506.98	40	chr9	131072797	.	G	A	506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.94;ReadPosRankSum=-1.000e-02;SOR=0.578	GT:AD:DP:GQ:PL	0/1:31,20:51:99:521,0,838	20	0	1	0
chr9	131085585	131085585	C	T	exonic	LAMC3	.	synonymous SNV	LAMC3:NM_006059:exon25:c.C4092T:p.S1364S,	Cortical malformations, occipital, Autosomal recessive	.	1	1501	20	0	0	20	0.00661813	.	.	193045	not_provided|not_specified|LAMC3-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038	0.00219649	0.0035	0.0005	0.0024	0	0.0008	0.0045	0.0033	0.0049	0.0035899	555	154602	rs141724499	0.0056	0.0056	0.0055	0.0057	0.0064	0.0055	0.0055	0.0062	0.0062	0.0007	0.0023	0.0034	2.519e-05	0.0007	0.0047	0.0064	0.0063	0.0053	0.0037	0.0037	0.0038	0.0036	0.0070	0.0034	0.0033	0.0054	0.0052	0.0012	0.0011	0.0038	0.0017	0	0.0002	0.0034	0.0059	0.0057	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	1163.98	34	chr9	131085585	.	C	T	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.620e-01;DP=785;ExcessHet=0.0000;FS=1.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=0.904;SOR=0.491	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1178,0,1259	20	0	1	0
chr9	132328623	132328623	T	C	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon10:c.A2975G:p.K992R	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	.	0	1485	35	2	0	39	0.0129611	.	.	253363	not_specified|not_provided|Hereditary_spastic_paraplegia|Spastic_paraplegia|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|Amyotrophic_lateral_sclerosis_type_4	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.102	B	0.027	B	0.000	N	1.000	N	0.695	N	-2.18	D	-0.622	T	0.326	T	0.03	0.709	7.780	0.239	-0.118	1.381	5.907	0.244	.	0.0117	0.00658946	0.0151	0.0027	0.0064	0	0.0493	0.0187	0.0198	0.0083	0.0145341	2247	154602	rs61742937	0.0145	0.0145	0.0143	0.0148	0.0150	0.0144	0.0143	0.0148	0.0147	0.0023	0.0082	0.0073	2.52e-05	0.0468	0.0130	0.0150	0.0133	0.0070	0.0141	0.0141	0.0135	0.0148	0.0175	0.0136	0.0134	0.0167	0.0163	0.0026	0.0186	0.0142	0.0043	0	0.0505	0.0204	0.0175	0.0170	0.0060	0.039	0.42487	D	0.081	0.41742	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.00162	N	7739.210000	1	0.08975	N	1.4	0.35362	L	-2.47	0.88997	D	-1.13	0.29114	N	0.03	0.00717	-0.6223	0.63893	T	0.326	0.69436	T	10	0.0022610426	0.00033	T	.	.	.	0.244	0.55061	.	.	.	.	0.23882982507508727	0.23796	0.0718533108424	0.08051	0.353411912918	0.18423	T	0.306023	0.67825	T	-0.470488	0.00844	T	-0.432343	0.29670	T	0.000944401584356875	0.00009	T	0.622038	0.23930	T	0.09425707	0.22157	0.09587687	0.22758	0.09425707	0.22157	0.09587687	0.22757	-4.521	0.31162	T	0.6388593543702014	0.70927	0.081	0.08272	B	.	.	1.533747	0.19678	14.38	0.97958509388067672	0.37158	0.55602	0.29905	D	AEFGBCI	0.076852	0.15470	N	-0.775182274156688	0.13959	0.6915422	-0.767738281659161	0.15287	0.8032317	0.999907973070562	0.45458	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	0.239	0.14746	1.084000	0.30439	0.167000	0.15474	0.665000	0.62972	0.685000	0.28485	0.010000	0.20010	0.179000	0.21265	0.0:0.1392:0.2616:0.5993	5.907	0.18248	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.07143	6687.68	45	chr9	132328623	.	T	C	6687.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.750;DP=1349;ExcessHet=0.3300;FS=0.521;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.709;SOR=0.601	GT:AD:DP:GQ:PL	0/1:90,78:168:99:2147,0,2328	18	0	3	0
chr9	133555922	133555922	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon11:c.C1641T:p.H547H	Geleophysic dysplasia 1, Autosomal recessive	.	4	1025	431	62	0	555	0.213052	.	.	317128	Geleophysic_dysplasia_1|not_specified|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0156143	2414	154602	rs7868941	0.1558	0.1558	0.1578	0.1537	0.2226	0.1552	0.1550	0.2120	0.2078	0.1409	0.1034	0.1845	0.0005	0.2171	0.2226	0.1673	0.1555	0.0618	0.1564	0.1566	0.1576	0.1552	0.1741	0.1547	0.1540	0.1715	0.1704	0.1426	0.2357	0.1371	0.1958	0.0010	0.2236	0.2041	0.1741	0.1776	0.0504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.1429	9182.03	128	chr9	133555922	.	C	T	9182.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.290e-01;DP=1318;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=0.961;SOR=0.668	GT:AD:DP:GQ:PL	0/1:73,32:105:99:753,0,2023	15	0	6	0
chr9	133568420	133568420	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon14:c.C2022T:p.P674P	Geleophysic dysplasia 1, Autosomal recessive	.	0	1140	340	42	0	424	0.156805	.	.	508835	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0092302	1427	154602	rs534165083	0.1392	0.1391	0.1410	0.1374	0.1524	0.1387	0.1385	0.1518	0.1516	0.0847	0.0821	0.1171	0.0115	0.2030	0.1510	0.1524	0.1308	0.0510	0.1254	0.1256	0.1256	0.1253	0.1561	0.1240	0.1233	0.1537	0.1526	0.0864	0.0439	0.1089	0.1227	0.0039	0.2088	0.1293	0.1561	0.1380	0.0410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.07143	7775.68	33	chr9	133568420	.	C	T	7775.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.77;DP=1314;ExcessHet=0.3300;FS=0.522;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.052;SOR=0.753	GT:AD:DP:GQ:PL	0/1:91,96:187:99:2330,0,1999	18	0	3	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	.	1	295	703	523	0	1749	0.747755	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.5476	33750.98	102	chr9	133569476	.	A	G	33750.98	.	AC=23;AF=0.548;AN=42;BaseQRankSum=1.00;DP=1946;ExcessHet=0.5442;FS=0.563;InbreedingCoeff=0.1350;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=19.53;ReadPosRankSum=0.324;SOR=0.714	GT:AD:DP:GQ:PL	0/1:73,54:127:99:1319,0,1754	5	7	9	0
chr9	133573863	133573863	G	A	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon18:c.G2613A:p.V871V	Geleophysic dysplasia 1, Autosomal recessive	.	1	1145	334	42	0	418	0.154357	.	.	317138	not_provided|not_specified|Geleophysic_dysplasia_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0134345	2077	154602	rs62637566	0.1354	0.1354	0.1370	0.1338	0.1550	0.1349	0.1347	0.1471	0.1469	0.0882	0.0810	0.1175	0.0116	0.1984	0.1550	0.1477	0.1287	0.0500	0.1243	0.1245	0.1244	0.1242	0.1520	0.1228	0.1222	0.1496	0.1486	0.0910	0.0570	0.1072	0.1238	0.0039	0.2030	0.1327	0.1520	0.1329	0.0400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.07143	4333.68	35	chr9	133573863	.	G	A	4333.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.601e+00;DP=1016;ExcessHet=0.3300;FS=1.231;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.197;SOR=0.778	GT:AD:DP:GQ:PL	0/1:57,80:137:99:1847,0,1290	18	0	3	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	.	1265	97	26	134	0	294	0.602459	.	.	322826	not_provided|Hypoparathyroidism,_deafness,_renal_disease_syndrome	MedGen:CN517202|MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	4713.46	6	chr10	8074278	.	G	GA	4713.46	.	AC=33;AF=0.786;AN=42;BaseQRankSum=-3.280e-01;DP=254;ExcessHet=0.0874;FS=7.524;InbreedingCoeff=0.1699;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=24.05;ReadPosRankSum=-3.170e-01;SOR=0.181	GT:AD:DP:GQ:PL	1/1:0,11:11:33:309,33,0	2	14	5	0
chr10	87863959	87863959	G	A	exonic	PTEN	.	nonsynonymous SNV	PTEN:NM_001304717:exon1:c.G10A:p.G4R,	Bannayan-Riley-Ruvalcaba syndrome, Autosomal dominant;Cowden syndrome 1, Autosomal dominant;Endometrial carcinoma, somatic;Lhermitte-Duclos syndrome, Autosomal dominant;Macrocephaly/autism syndrome, Autosomal dominant;Malignant melanoma, somatic;PTEN hamartoma tumor syndrome (3);Squamous cell carcinoma, head and neck, somatic;VATER association with macrocephaly and ventriculomegaly, Autosomal recessive	.	327	1088	90	17	0	124	0.053913	.	.	799618	Myeloproliferative_neoplasm,_unclassifiable|PTEN-related_disorder|not_specified|not_provided|PTEN_hamartoma_tumor_syndrome	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0017623,MeSH:D006223,MedGen:C1959582,Orphanet:306498	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160343	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs12573787	0.1537	0.0877	0.1559	0.1517	0.3493	0.1524	0.1518	0.3428	0.3401	0.0618	0.2127	0.1122	0.3493	0.1133	0.0794	0.1350	0.1541	0.1302	0.1262	0.1263	0.1257	0.1267	0.3487	0.1247	0.1241	0.3351	0.3296	0.0615	0.0592	0.1934	0.1206	0.3487	0.1086	0.1268	0.1375	0.1377	0.1243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.1667	3146.53	16	chr10	87863959	.	G	A	3146.53	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.01;DP=549;ExcessHet=0.2785;FS=2.303;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=59.88;MQRankSum=0.00;QD=14.17;ReadPosRankSum=0.597;SOR=0.791	GT:AD:DP:GQ:PL	0/1:16,19:35:99:483,0,359	15	1	5	0
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	17071.38	42	chr10	123053169	.	AT	A	17071.38	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-3.790e-01;DP=1002;ExcessHet=0.2785;FS=0.910;InbreedingCoeff=0.1451;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=23.74;ReadPosRankSum=0.164;SOR=0.579	GT:AD:DP:GQ:PL	1/1:0,24:24:72:668,72,0	1	15	5	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	.	21	72	439	990	0	2419	0.943816	.	.	326978	Type_1_diabetes_mellitus_2|Maturity-onset_diabetes_of_the_young_type_10|Diabetes_mellitus,_permanent_neonatal_4|Autosomal_recessive_DOPA_responsive_dystonia|Transient_Neonatal_Diabetes,_Dominant/Recessive|Hyperproinsulinemia|Diabetes_mellitus_type_1|Maturity_onset_diabetes_mellitus_in_young|not_provided	MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MedGen:CN239353|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	P	.	.	-4.58	D	-0.893	T	0.000	T	0.193	-0.854	0.541	-3.76	-2.608	0.411	2.503	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	78587.44	179	chr11	2159830	.	T	G	78587.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=0.199;DP=3573;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=22.65;ReadPosRankSum=0.179;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,203:203:99:.:.:6066,607,0	1	12	8	0
chr11	7987585	7987585	C	T	exonic	EIF3F	.	nonsynonymous SNV	EIF3F:NM_003754:exon1:c.C233T:p.P78L,	.	.	383	1136	3	0	0	3	0.00131868	.	.	2743652	EIF3F-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.002	B	0.007	B	0.874	N	1.000	D	0.625	N	1.54	T	-1.030	T	0.083	T	0.202	3.270	16.98	2.97	1.994	0.812	12.230	0.083	0.0208829789782	0.0009	0.000199681	0.0014	0	0.0009	0	0	0.0021	0.0015	0.0013	0.0001876	29	154602	rs200229110	0.0013	0.0013	0.0012	0.0013	0.0040	0.0012	0.0012	0.0026	0.0021	0.0003	0.0007	0.0081	0	0.0002	0.0040	0.0013	0.0019	0.0009	0.0011	0.0011	0.0011	0.0011	0.0017	0.0009	0.0009	0.0012	0.0011	0.0002	0	0.0017	0.0086	0	0	0	0.0014	0.0014	0.0002	0.005	0.63226	D	0.034	0.52727	D	0.002	0.09854	B	0.007	0.12992	B	0.874246	0.08802	N	0.943443	0.999998	0.58761	D	0.895	0.22405	L	0.98	0.42122	T	-0.62	0.18248	N	0.142	0.19995	-1.0299	0.20487	T	0.083	0.32700	T	10	0.0059174597	0.00133	T	0.020883	0.43558	T	0.083	0.24192	.	.	0.128874641272	0.12493	0.19762602238569787	0.19679	0.284819605958	0.30900	0.742073535919	0.73278	T	0.008647	0.07927	T	-0.51202	0.00489	T	-0.532885	0.19000	T	0.056818025186601	0.06659	T	.	.	.	0.08013977	0.18347	0.05640729	0.10074	0.08013977	0.18346	0.05640729	0.10073	-4.915	0.35903	T	.	.	0.111	0.34339	B	.;.;.	.;.;.	2.258865	0.28859	17.94	0.99321029265576699	0.59393	0.04962	0.10727	N	AEFGBCI	0.108788	0.21631	N	-0.703135107759395	0.15932	0.8074151	-0.703501639434969	0.16874	0.8946542	0.999999991954739	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	2.97	2.97	0.33479	0.320000	0.19288	2.430000	0.32726	0.599000	0.40250	0.000000	0.06391	0.928000	0.28476	0.094000	0.17991	0.0:1.0:0.0:0.0	12.230	0.53793	819	0.41190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1193.98	36	chr11	7987585	.	C	T	1193.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=900;ExcessHet=0.0000;FS=3.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.05;MQRankSum=-8.420e-01;QD=10.85;ReadPosRankSum=1.29;SOR=1.069	GT:AD:DP:GQ:PL	0/1:66,44:110:99:1208,0,1857	20	0	1	0
chr11	17276578	17276578	C	G	upstream	NUCB2	dist=136	.	.	.	.	1177	165	27	153	0	333	0.502262	.	.	132617	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8182	5904.27	3	chr11	17276578	.	C	G	5904.27	.	AC=18;AF=0.818;AN=22;DP=148;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4976;MLEAC=26;MLEAF=1.00;MQ=60.00;QD=34.08;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:17276557_A_C:134,9,0:17276557	2	9	0	10
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	.	9	194	657	662	0	1981	0.836218	.	.	319487	Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735823	.	.	.	.	.	.	.	.	0.02213	576	26028	rs5213	0.6509	0.6490	0.6528	0.6489	0.9329	0.6497	0.6492	0.9237	0.9199	0.9329	0.6277	0.6666	0.6333	0.5278	0.7238	0.6500	0.6663	0.6293	0.7178	0.7178	0.7241	0.7113	0.9199	0.7143	0.7128	0.9122	0.9090	0.9199	0.5746	0.6767	0.6737	0.6457	0.5344	0.7041	0.6490	0.6958	0.6272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	25022.16	47	chr11	17386857	.	C	T	25022.16	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.185;DP=1241;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=23.00;ReadPosRankSum=-2.670e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:41,29:70:99:686,0,1062	3	9	9	0
chr11	17393168	17393168	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	158	484	576	304	0	1184	0.550186	.	.	167552	Transitory_neonatal_diabetes_mellitus|not_specified|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3721	0.35623	0.3439	0.4529	0.4653	0.1359	0.2002	0.3362	0.3884	0.3834	0.0001153	3	26028	rs1109591	0.3344	0.3348	0.3329	0.3359	0.5002	0.3336	0.3332	0.4849	0.4787	0.4563	0.4588	0.3945	0.1494	0.2029	0.5002	0.3319	0.3431	0.3829	0.3623	0.3624	0.3693	0.3550	0.4494	0.3597	0.3587	0.4405	0.4382	0.4458	0.2301	0.4494	0.3942	0.1308	0.1965	0.4521	0.3337	0.3912	0.3652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	26070.0	74	chr11	17393168	.	T	C	26070.0	.	AC=23;AF=0.548;AN=42;BaseQRankSum=3.30;DP=1375;ExcessHet=2.1081;FS=1.364;InbreedingCoeff=-0.0572;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=21.63;ReadPosRankSum=-4.590e-01;SOR=0.834	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1270,0,1144	4	6	11	0
chr11	17395957	17395957	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	6	445	728	343	0	1414	0.613715	.	.	167548	Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|not_specified|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4704	0.421526	0.4583	0.7635	0.5950	0.1792	0.4136	0.4287	0.4590	0.3842	0.0121792	317	26028	rs739689	0.3432	0.3401	0.3432	0.3431	0.7497	0.3424	0.3420	0.7418	0.7385	0.7497	0.4335	0.4145	0.1096	0.2056	0.4979	0.3368	0.3619	0.3678	0.4400	0.4401	0.4495	0.4300	0.7292	0.4372	0.4361	0.7223	0.7195	0.7292	0.2325	0.4480	0.4173	0.0892	0.1976	0.4286	0.3364	0.4347	0.3522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	16421.3	35	chr11	17395957	.	A	G	16421.3	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.977;DP=1002;ExcessHet=0.2144;FS=1.432;InbreedingCoeff=0.2364;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=22.53;ReadPosRankSum=-2.190e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:24,34:58:99:897,0,724	7	6	8	0
chr11	17396823	17396823	C	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	16	869	514	123	0	760	0.304243	.	.	1166870	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215855	.	.	.	.	.	.	.	.	0.0387317	5988	154602	rs4148644	0.1966	0.1974	0.1962	0.1971	0.2811	0.1960	0.1958	0.2762	0.2742	0.2811	0.1956	0.2030	0.0815	0.1224	0.2608	0.1993	0.1943	0.2164	0.2111	0.2113	0.2172	0.2047	0.2771	0.2092	0.2084	0.2729	0.2711	0.2771	0.1327	0.2051	0.1967	0.0754	0.1226	0.2177	0.1980	0.2055	0.2143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3380.8	25	chr11	17396823	.	C	A	3380.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-1.127e+00;DP=444;ExcessHet=1.5138;FS=4.621;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=19.77;ReadPosRankSum=0.331;SOR=0.351	GT:AD:DP:GQ:PL	0/1:8,11:19:99:367,0,283	12	1	8	0
chr11	17408375	17408375	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	7	314	660	541	0	1742	0.735021	.	.	167542	Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|not_specified|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6088	0.614617	0.6125	0.6167	0.7059	0.7429	0.5248	0.6255	0.6038	0.46	0.601991	93069	154602	rs2106865	0.6116	0.6114	0.6155	0.6077	0.7147	0.6106	0.6101	0.7077	0.7048	0.6184	0.6958	0.6590	0.7147	0.5287	0.6211	0.6176	0.6245	0.4682	0.6174	0.6175	0.6250	0.6094	0.7228	0.6140	0.6127	0.7034	0.6955	0.6148	0.7252	0.6494	0.6653	0.7228	0.5244	0.6918	0.6235	0.6340	0.4757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	19895.14	44	chr11	17408375	.	T	C	19895.14	.	AC=27;AF=0.643;AN=42;BaseQRankSum=-3.920e-01;DP=1066;ExcessHet=0.1361;FS=0.000;InbreedingCoeff=0.2741;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=22.01;ReadPosRankSum=-7.820e-01;SOR=0.725	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1649,150,0	4	10	7	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	not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2	MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	4454.89	6	chr11	17414293	.	A	G	4454.89	.	AC=32;AF=0.800;AN=40;BaseQRankSum=-1.256e+00;DP=166;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=34;MLEAF=0.850;MQ=60.00;MQRankSum=0.00;QD=28.93;ReadPosRankSum=1.38;SOR=1.025	GT:AD:DP:GQ:PL	1/1:0,7:7:21:242,21,0	2	14	4	1
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	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	15879.44	27	chr11	17414389	.	G	A	15879.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=2.19;DP=577;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=30.13;ReadPosRankSum=0.291;SOR=0.668	GT:AD:DP:GQ:PL	1/1:0,17:17:51:710,51,0	1	12	8	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	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746605	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	23788.44	42	chr11	17414419	.	G	A	23788.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=-1.339e+00;DP=959;ExcessHet=1.5138;FS=1.823;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=26.88;ReadPosRankSum=0.480;SOR=0.916	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1062,93,0	1	12	8	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	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|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	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	33694.02	59	chr11	17415389	.	A	G	33694.02	.	AC=34;AF=0.810;AN=42;BaseQRankSum=1.83;DP=1416;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=34;MLEAF=0.810;MQ=60.00;MQRankSum=0.00;QD=25.03;ReadPosRankSum=0.208;SOR=0.696	GT:AD:DP:GQ:PL	1/1:0,71:71:99:2152,213,0	1	14	6	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	YES	1	302	754	465	0	1684	0.736014	.	.	167535	Hyperinsulinemia|Diabetes_mellitus,_transient_neonatal,_2|Permanent_neonatal_diabetes_mellitus|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4768	0.439297	0.4740	0.4001	0.5634	0.3640	0.3196	0.5018	0.4502	0.4658	0.471094	72832	154602	rs1048099	0.4869	0.4869	0.4871	0.4867	0.6040	0.4859	0.4855	0.5873	0.5805	0.4017	0.5620	0.5426	0.3763	0.3261	0.6040	0.4976	0.4869	0.4688	0.4594	0.4596	0.4669	0.4516	0.5197	0.4566	0.4554	0.5101	0.5062	0.4018	0.5452	0.5197	0.5528	0.3808	0.3171	0.6497	0.5006	0.5081	0.4643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.7143	102418.54	245	chr11	17474969	.	A	G	102418.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=-1.654e+00;DP=4835;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.209;SOR=0.733	GT:AD:DP:GQ:PL	0/1:137,126:263:99:3129,0,3513	2	11	8	0
chr11	22279865	22279866	TT	-	UTR3	ANO5	NM_001142649:c.*100_*101delTT;NM_213599:c.*100_*101delTT	.	.	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	.	198	4	1	16	7	40	0.804878	.	.	313674	not_provided|Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_myopathy	MedGen:C3661900|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1491460943	0.4847	0.4800	0.4864	0.4832	0.5022	0.4832	0.4826	0.5004	0.4996	0.3369	0.4373	0.4965	0.3131	0.5284	0.4919	0.5022	0.4672	0.4755	0.5470	0.5408	0.5446	0.5494	0.6377	0.5437	0.5424	0.6326	0.6305	0.3600	0.7205	0.5649	0.6499	0.3285	0.7108	0.5906	0.6377	0.5639	0.5818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8214	2851.92	6	chr11	22279864	.	CTT	C,CT	2851.92	.	AC=15,9;AF=0.536,0.321;AN=28;DP=164;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6148;MLEAC=22,10;MLEAF=0.786,0.357;MQ=60.00;QD=33.95;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2,0:2:6:71,6,0,71,6,71	2	7	0	7
chr11	46729509	46729509	G	A	exonic	F2	.	synonymous SNV	F2:NM_000506:exon12:c.G1602A:p.P534P,	Dysprothrombinemia, Autosomal recessive;Hypoprothrombinemia, Autosomal recessive;Thrombophilia due to thrombin defect, Autosomal dominant	.	0	1502	19	1	0	21	0.00694215	.	.	254184	Thrombophilia_due_to_thrombin_defect|Congenital_prothrombin_deficiency|not_specified	MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050|MONDO:MONDO:0013361,MedGen:C0272317,OMIM:613679,Orphanet:325|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0174	0.00738818	0.0161	0.0044	0.0053	0	0.0192	0.0250	0.0110	0.0027	0.0167139	2584	154602	rs5900	0.0207	0.0207	0.0211	0.0204	0.0244	0.0205	0.0205	0.0241	0.0240	0.0037	0.0076	0.0091	0	0.0210	0.0085	0.0244	0.0178	0.0029	0.0153	0.0153	0.0159	0.0148	0.0252	0.0148	0.0146	0.0242	0.0238	0.0043	0.0186	0.0090	0.0121	0	0.0194	0.0034	0.0252	0.0133	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	1457.98	33	chr11	46729509	.	G	A	1457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.288;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-1.174e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/1:53,60:113:99:1472,0,1221	20	0	1	0
chr11	78101029	78101029	C	T	exonic	ALG8	.	nonsynonymous SNV	ALG8:NM_024079:exon13:c.G1516A:p.A506T,	Congenital disorder of glycosylation, type Ih	.	0	1508	14	0	0	14	0.00462046	.	.	868843	ALG8_congenital_disorder_of_glycosylation|ALG8-related_disorder	MONDO:MONDO:0011969,MedGen:C2931002,OMIM:608104,Orphanet:79325|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.008	B	0.033	B	0.002	N	1.000	D	1.79	L	-1.74	D	-0.692	T	0.250	T	0.611	1.550	11.14	4.01	1.370	1.295	12.583	0.102	0.0348861890714	0.0003	0.000998403	0.0005	9.625e-05	0.0006	0.0001	0	0.0002	0.0022	0.0019	0.0004398	68	154602	rs149692072	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0017	0.0015	0	0.0005	3.826e-05	2.519e-05	0	0.0028	8.004e-05	0.0003	0.0018	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	2.406e-05	0	0.0001	0	0	0	0.0034	0.0001	0.0005	0.0027	0.671	0.32929	T	0.293	0.20811	T	0.007	0.14184	B	0.033	0.22329	B	0.002315	0.36806	N	0.300661	0.999298	0.81001	D	1.725	0.44537	L	-1.74	0.83413	D	-0.73	0.29323	N	0.215	0.24010	-0.6916	0.60833	T	0.250	0.61912	T	10	0.02481255	0.00696	T	0.034886	0.55978	D	0.482	0.77206	.	.	0.888515215165	0.88741	0.3929556972325702	0.39210	0.161159105999	0.18189	0.417583346367	0.27505	T	0.156684	0.49896	T	-0.227984	0.16915	T	-0.11349	0.62332	T	0.0133918986548091	0.00242	T	0.842016	0.51794	T	0.068263814	0.14856	0.08404729	0.19305	0.087290436	0.20320	0.08441477	0.19418	-7.074	0.54573	T	0.1575883449238142	0.19039	0.106	0.27910	B	.;.	.;.	2.614910	0.33970	19.49	0.93343155844953485	0.23075	0.87664	0.47279	D	AEFDBCI	0.333900	0.43284	N	0.156583891975323	0.49124	3.116352	0.195561650432476	0.49602	3.161542	0.999998618531933	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.95	4.01	0.45821	1.304000	0.33087	3.303000	0.37399	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	1.000000	0.97212	0.3254:0.6746:0.0:0.0	12.583	0.55752	617	0.66297	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	937.98	37	chr11	78101029	.	C	T	937.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.288;DP=909;ExcessHet=0.0000;FS=2.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=2.20;SOR=0.972	GT:AD:DP:GQ:PL	0/1:69,39:108:99:952,0,1800	20	0	1	0
chr11	89178528	89178528	C	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon1:c.C575A:p.S192Y,	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	YES	0	682	633	207	0	1047	0.43426	.	.	18817	Oculocutaneous_albinism|Albinism_or_congenital_nystagmus|not_provided|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1B|Tyrosinase-negative_oculocutaneous_albinism|not_specified	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|.|MedGen:C3661900|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.997	D	0.974	D	0.000	D	1.000	P	2.135	M	-5.1	D	-1.784	T	0.000	T	0.455	3.276	17.00	6.07	2.885	4.436	15.385	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.3333	50700.41	228	chr11	89178528	.	C	A	50700.41	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.625e+00;DP=3243;ExcessHet=0.4640;FS=0.000;InbreedingCoeff=0.1429;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=17.97;ReadPosRankSum=0.136;SOR=0.667	GT:AD:DP:GQ:PL	0/1:152,143:295:99:3585,0,4112	10	3	8	0
chr11	108251973	108251973	T	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon11:c.T1744C:p.F582L	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	YES	1	1484	37	0	0	37	0.0123128	.	.	132799	not_specified|Familial_cancer_of_breast|not_provided|Breast_and/or_ovarian_cancer|Ataxia-telangiectasia_syndrome|Hereditary_cancer-predisposing_syndrome|Malignant_tumor_of_breast	MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MedGen:CN221562|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.001	B	0.013	N	1.000	N	1.175	L	0.55	T	-1.027	T	0.068	T	0.69	-0.024	3.890	1.13	-0.045	0.130	9.764	0.272	0.00632949868566	0.0006	0.00259585	0.0010	0.0003	0.0014	0	0	0.0010	0.0033	0.0018	0.0010673	165	154602	rs2235006	0.0008	0.0008	0.0007	0.0009	0.0229	0.0008	0.0008	0.0197	0.0185	0.0008	0.0016	0.0007	0	0	0.0229	0.0006	0.0017	0.0019	0.0008	0.0008	0.0007	0.0009	0.0018	0.0007	0.0006	0.0013	0.0011	0.0002	0	0.0018	0.0003	0	0	0.0102	0.0010	0.0038	0.0014	1.0	0.00964	T	0.221	0.25827	T	0.0	0.02946	B	0.001	0.04355	B	0.013257	0.28902	N	0.409630	0.999837	0.20152	N	0.69	0.16971	N	0.55	0.54728	T	-0.37	0.16393	N	0.079	0.21580	-1.0270	0.21429	T	0.068	0.27777	T	10	0.0050537884	0.00109	T	0.006329	0.16639	T	0.272	0.58758	0.737	0.86978	0.819883778855	0.81818	0.15030838992287476	0.14952	0.144979564381	0.16386	0.368464320898	0.20611	T	0.073865	0.34800	T	-0.352246	0.04587	T	-0.291983	0.45566	T	0.000667495086760846	0.00006	T	0.610839	0.23175	T	0.08629755	0.20053	0.10082258	0.24117	0.07361293	0.16461	0.0899903	0.21076	-2.303	0.04571	T	0.21292882189483592	0.28582	0.451	0.62236	A	.;.;.	.;.;.	0.752413	0.11221	7.853	0.55554340149940129	0.05366	0.26494	0.23009	N	AEFBI	0.038653	0.05500	N	-0.730072476973633	0.15181	0.7627831	-0.627980968104417	0.18775	1.004481	0.717382268493451	0.22891	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.03	1.13	0.19758	0.131000	0.15696	-0.914000	0.06944	-0.123000	0.13640	0.351000	0.25767	0.000000	0.08366	0.858000	0.40661	0.0:0.2561:0.0:0.7439	9.764	0.39715	126	0.94940	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	997.98	41	chr11	108251973	.	T	C	997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.784;DP=772;ExcessHet=0.0000;FS=1.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=-6.740e-01;SOR=0.920	GT:AD:DP:GQ:PL	0/1:47,41:88:99:1012,0,1128	20	0	1	0
chr12	908664	908664	G	A	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon26:c.G6277A:p.G2093S	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	.	0	225	1	0	0	1	0.00221729	.	.	318634	not_provided|Inborn_genetic_diseases|Pseudohypoaldosteronism_type_2C|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.18	B	0.046	B	0.002	N	1.000	N	0.585	N	1.09	T	-0.858	T	0.182	T	0.279	2.176	13.23	4.27	2.730	3.284	13.287	0.053	0.0205494850597	0.0007	0.000199681	0.0004	0	0.0006	0	0	0.0006	0.0011	0.0002	0.0004722	73	154602	rs146042595	0.0008	0.0008	0.0007	0.0008	0.0009	0.0007	0.0007	0.0009	0.0008	0.0001	0.0007	0	0	0	0.0005	0.0009	0.0004	0.0002	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0009	0	0	0	0	0.0010	0	0	0.285	0.18956	T	1.0	0.12421	T	0.17	0.29046	B	0.046	0.24676	B	0.001864	0.37789	N	0.120660	0.831661	0.28977	N	1.7	0.43825	L	-0.48	0.70249	T	-1.45	0.49684	N	0.243	0.27435	-0.8579	0.51413	T	0.182	0.53026	T	10	0.025352627	0.00732	T	0.020549	0.43168	T	0.053	0.14996	.	.	0.282416095408	0.27849	0.4889766587300523	0.48817	0.161159105999	0.18189	0.417471408844	0.27489	T	0.062903	0.55673	T	-0.365744	0.03815	T	-0.32277	0.42270	T	0.020604898229857	0.00760	T	0.914409	0.71352	D	0.08034131	0.18403	0.12267641	0.29588	0.08807615	0.20533	0.12882221	0.30986	-3.202	0.12505	T	.	.	0.065	0.02960	B	.;.;.;.;.	.;.;.;.;.	2.918103	0.38732	20.8	0.95998577639250826	0.28408	0.88554	0.48536	D	AEFDGBCI	0.345950	0.44093	N	-0.0881248703568793	0.37913	2.212654	0.0953532710927191	0.44313	2.715592	0.999995737175839	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.24	4.27	0.50009	3.384000	0.52216	4.962000	0.46347	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1281:0.0:0.8719:0.0	13.287	0.59683	508	0.75398	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	2955.98	35	chr12	908664	.	G	A	2955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=899;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.93;ReadPosRankSum=0.472;SOR=0.734	GT:AD:DP:GQ:PL	0/1:90,108:198:99:2970,0,2334	20	0	1	0
chr12	6018369	6018369	T	G	exonic	VWF	.	synonymous SNV	VWF:NM_000552:exon28:c.A5049C:p.A1683A,	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	0	780	740	2	0	744	0.322917	.	.	266166	not_specified|Hereditary_von_Willebrand_disease|not_provided	MedGen:CN169374|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022509	348	154602	rs79275181	0.0541	0.1753	0.0514	0.0568	0.1039	0.0537	0.0535	0.0948	0.0912	0.0354	0.0602	0.0362	0.0427	0.0518	0.1039	0.0556	0.0445	0.0580	0.0156	0.0580	0.0139	0.0174	0.0276	0.0150	0.0148	0.0233	0.0217	0.0133	0.0179	0.0169	0.0164	0.0276	0.0176	0	0.0152	0.0178	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.3571	3980.38	45	chr12	6018369	.	T	G	3980.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-7.750e-01;DP=996;ExcessHet=17.4423;FS=8.327;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=54.45;MQRankSum=-6.671e+00;QD=5.08;ReadPosRankSum=1.55;SOR=0.332	GT:AD:DP:GQ:PL	0/1:48,18:66:99:237,0,1270	6	0	15	0
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	.	15	41	80	27	63	197	0.62037	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	10774.66	67	chr12	21174718	.	T	TA,TAA	10774.66	.	AC=17,5;AF=0.405,0.119;AN=42;BaseQRankSum=0.119;DP=1378;ExcessHet=1.0911;FS=0.590;InbreedingCoeff=0.0503;MLEAC=17,5;MLEAF=0.405,0.119;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=0.054;SOR=0.635	GT:AD:DP:GQ:PL	0/2:13,0,7:20:99:181,220,631,0,411,390	5	2	9	0
chr12	21910318	21910319	AA	-	intronic	ABCC9	.	.	.	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	33	79	73	18	23	132	0.40824	.	.	330174	Dilated_Cardiomyopathy,_Dominant|not_specified|Hypertrichotic_osteochondrodysplasia_Cantu_type|Familial_atrial_fibrillation|not_provided	MedGen:CN239310|MedGen:CN169374|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0344	0.0213	0.0444	0.0182	0.0207	0.0378	0.0459	0.0332	0.0003458	9	26028	rs778815116	0.0264	0.0488	0.0268	0.0261	0.0448	0.0262	0.0261	0.0428	0.0420	0.0156	0.0448	0.0171	0.0118	0.0348	0.0075	0.0268	0.0248	0.0261	0.0006	0.0012	0.0006	0.0007	0.0010	0.0005	0.0005	0.0004	0.0003	0.0006	0	0.0006	0	0.0010	0.0026	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2716.27	42	chr12	21910317	.	CAA	CA,C	2716.27	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=0.301;DP=958;ExcessHet=21.3848;FS=0.000;InbreedingCoeff=-0.5954;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=4.38;ReadPosRankSum=0.401;SOR=0.677	GT:AD:DP:GQ:PL	0/1:23,3,0:26:1:1,0,524,70,533,603	3	0	16	0
chr12	64094951	64094951	C	T	exonic	SRGAP1	.	nonsynonymous SNV	SRGAP1:NM_001346201:exon13:c.C1490T:p.P497L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.004	U	1.000	D	4.66	H	-1.67	D	1.041	D	0.862	D	0.965	4.754	26.6	5.05	2.506	7.731	18.778	0.871	0.477149508009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321506999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.569e-06	0	1.346e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.003518	0.34847	U	0.000000	1	0.81001	D	5.245	0.99966	H	-1.67	0.82806	D	-8.91	0.97942	D	0.994	0.99899	1.041	0.97931	D	0.862	0.95394	D	9	0.9766516	0.97462	D	0.47715	0.94780	D	0.871	0.96133	0.818	0.93195	0.917048781376	0.91621	0.9220230046232393	0.92179	0.853553387311	0.68658	0.808189690113	0.83214	D	0.658826	0.89736	D	0.445754	0.92290	D	0.402518	0.92194	D	0.999464809894562	0.97510	D	0.983302	0.94339	D	0.581759	0.71704	0.55074006	0.74023	0.581759	0.71705	0.55074006	0.74024	-10.144	0.74769	D	.	.	0.971	0.89526	P	.;.;.	.;.;.	5.271034	0.88506	29.6	0.99810721164317762	0.89442	0.99127	0.91622	D	AEFBI	0.884659	0.81453	D	0.985702751092392	0.95289	13.47936	0.859280216376727	0.93545	12.11502	1.0	0.98316	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	7.842000	0.85116	7.707000	0.66598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.778	0.91883	917	0.20147	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	122.14	41	chr12	64094951	.	C	T	122.14	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.450e+00;DP=926;ExcessHet=1.7912;FS=99.434;InbreedingCoeff=-0.1390;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=-6.800e-02;SOR=9.736	GT:AD:DP:GQ:PL	0/1:29,9:38:6:6,0,594	15	0	6	0
chr12	102912794	102912794	A	C	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon2:c.T165G:p.F55L	Phenylketonuria, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	98641	Phenylketonuria|Hyperphenylalaninemia|not_provided|See_cases	MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716|Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.13	T	0.989	D	0.91	D	0.000	D	1.000	D	1.985	M	-5.64	D	1.054	D	0.962	D	0.831	3.263	16.95	4.33	0.911	3.047	8.93	0.853	0.612631081136	.	.	9.063e-05	0	0.0003	0	0	0.0001	0	0	8.41e-05	13	154602	rs199475598	8.535e-05	8.688e-05	8.911e-05	8.156e-05	0.0008	7.253e-05	6.838e-05	0.0006	0.0005	9.01e-05	0.0008	3.837e-05	0	0	0.0002	6.976e-05	9.981e-05	2.323e-05	0.0002	0.0002	6.422e-05	0.0003	0.0016	0.0001	0.0001	0.0011	0.0010	4.824e-05	0	0.0016	0	0	0	0	4.409e-05	0	0	0.096	0.91255	T	0.12	0.92824	T	0.89	0.48942	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.05	0.56469	M	-5.64	0.99249	D	-4.98	0.89029	D	0.863	0.89800	1.054	0.98198	D	0.962	0.98793	D	10	0.8023075	0.79616	D	0.612631	0.96623	D	0.853	0.95470	0.86	0.95774	0.984945034095	0.98478	0.8590593700418251	0.85868	0.224652461298	0.24998	0.615614533424	0.55109	T	0.965695	0.99588	D	0.134391	0.67786	D	0.356888	0.90583	D	0.675697565078735	0.39593	D	0.962254	0.85785	D	0.8440735	0.86901	0.66627944	0.80431	0.8436373	0.86871	0.66973543	0.80625	-8.241	0.62700	D	0.17104940695263118	0.21539	0.917	0.89526	P	.;.;.;.	.;.;.;.	3.647873	0.51758	23.1	0.99440077188276055	0.64720	0.90169	0.51136	D	AEFBI	0.777258	0.71012	D	0.383867446518945	0.60548	4.244872	0.367309881784486	0.59556	4.134594	0.999991428284611	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.46	4.33	0.51083	3.369000	0.52092	4.466000	0.43477	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.9144:0.0:0.0856:0.0	8.93	0.34824	768	0.49510	ACT domain|ACT domain;ACT domain|ACT domain;ACT domain|ACT domain;ACT domain|ACT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1290.98	34	chr12	102912794	.	A	C	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.237e+00;DP=850;ExcessHet=0.0000;FS=4.347;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=0.213;SOR=1.101	GT:AD:DP:GQ:PL	0/1:67,57:124:99:1305,0,1709	20	0	1	0
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	YES	2	270	714	536	0	1786	0.767842	.	.	134680	Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|not_specified|not_provided|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4175	0.428514	0.4722	0.3467	0.4430	0.3969	0.4887	0.4772	0.5226	0.5739	0.0001537	4	26028	rs1169289	0.4566	0.4566	0.4516	0.4616	0.6297	0.4557	0.4553	0.6126	0.6057	0.3411	0.4475	0.5840	0.4311	0.4803	0.6297	0.4472	0.4625	0.5707	0.4301	0.4302	0.4244	0.4360	0.5691	0.4273	0.4262	0.5513	0.5441	0.3324	0.4382	0.4585	0.5786	0.3892	0.4991	0.6293	0.4561	0.4691	0.5691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.619	42933.13	95	chr12	120978819	.	C	G	42933.13	.	AC=26;AF=0.619;AN=42;BaseQRankSum=1.45;DP=2181;ExcessHet=0.3152;FS=1.264;InbreedingCoeff=0.1923;MLEAC=26;MLEAF=0.619;MQ=60.00;MQRankSum=0.00;QD=21.72;ReadPosRankSum=0.778;SOR=0.582	GT:AD:DP:GQ:PL	0/1:74,56:130:99:1304,0,1791	4	9	8	0
chr12	120978847	120978847	A	C	exonic	HNF1A	.	nonsynonymous SNV	HNF1A:NM_000545:exon1:c.A79C:p.I27L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	YES	0	433	725	364	0	1453	0.626563	.	.	29976	Maturity_onset_diabetes_mellitus_in_young|Insulin_resistance,_susceptibility_to|not_specified|SERUM_HDL_CHOLESTEROL_LEVEL,_MODIFIER_OF|not_provided|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|Type_2_diabetes_mellitus	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C1852091|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.025	B	0.047	B	0.001	D	0.000	P	1.445	L	-4.99	D	-1.199	T	0.000	T	0.491	2.485	14.27	4.45	1.637	3.135	12.900	0.471	.	0.2625	0.298522	0.3533	0.1240	0.3657	0.4181	0.4013	0.3526	0.4043	0.4245	0.337234	52137	154602	rs1169288	0.3335	0.3336	0.3293	0.3377	0.4891	0.3327	0.3324	0.4740	0.4679	0.1157	0.3665	0.4685	0.4637	0.3871	0.4891	0.3203	0.3413	0.4211	0.2886	0.2888	0.2795	0.2980	0.4159	0.2863	0.2854	0.4007	0.3946	0.1246	0.3998	0.3441	0.4579	0.4113	0.4038	0.5136	0.3279	0.3172	0.4159	0.082	0.33254	T	0.088	0.41074	T	0.02	0.18235	B	0.013	0.16460	B	0.000599	0.43095	D	0.102545	0.00427281	0.58761	P	.	.	.	-4.99	0.98507	D	-0.92	0.26422	N	0.244	0.59478	-1.1988	0.00159	T	0.000	0.00011	T	9	0.0011825562	0.00013	T	.	.	.	0.471	0.76487	.	.	.	.	0.639855555068673	0.63920	0.661091555139	0.58901	0.671702623367	0.63080	T	0.616759	0.87931	D	-0.242214	0.15067	T	0.0231193	0.71833	D	0.0200591795459442	0.00707	T	0.545645	0.21248	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.29724	B	.;.;.;.;.;.	.;.;.;.;.;.	2.848995	0.37605	20.5	0.97610260144253136	0.34904	0.91018	0.52700	D	AEFDBHCI	0.874006	0.79666	D	-0.165784519999115	0.34565	1.974477	-0.019193184638099	0.38849	2.294743	0.999999999782079	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	3.208000	0.50816	6.975000	0.57104	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	12.900	0.57511	371	0.84287	Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal	SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|UNC119B|SPPL3|SPPL3|SPPL3|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43|ACADS|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood	.	.	rs1169288	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.5238	33561.51	89	chr12	120978847	.	A	C	33561.51	.	AC=22;AF=0.524;AN=42;BaseQRankSum=1.54;DP=1997;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=19.34;ReadPosRankSum=-1.670e-01;SOR=0.717	GT:AD:DP:GQ:PL	0/1:73,49:122:99:1190,0,1968	5	6	10	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	.	1	363	726	432	0	1590	0.686528	0	0.002	134677	not_provided|Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	P	.	.	.	.	-1.027	T	0.000	T	.	-0.974	0.301	-8.98	-3.672	-0.240	13.207	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	52313.0	129	chr12	120997672	.	G	A	52313.0	.	AC=23;AF=0.548;AN=42;BaseQRankSum=1.17;DP=2905;ExcessHet=2.1081;FS=0.567;InbreedingCoeff=-0.0572;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=19.48;ReadPosRankSum=0.674;SOR=0.641	GT:AD:DP:GQ:PL	0/1:63,90:153:99:2354,0,1430	4	6	11	0
chr12	132730335	132730397	CCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	-	intronic	ANKLE2	.	.	.	.	.	439	456	411	216	0	843	0.480342	.	.	791214	Microcephaly_16,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0014730,MedGen:C4225249,OMIM:616681,Orphanet:2512|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	0.3599	0.3308	0.3572	0.3627	0.3949	0.3590	0.3586	0.3800	0.3740	0.2624	0.3523	0.4405	0.1661	0.4326	0.3949	0.3654	0.3676	0.3689	0.4049	0.4061	0.4063	0.4035	0.4607	0.4022	0.4011	0.4564	0.4546	0.3189	0.5621	0.3897	0.4957	0.1763	0.4643	0.4558	0.4607	0.4041	0.4202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	15991.24	33	chr12	132730334	.	CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	C	15991.24	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.33;DP=861;ExcessHet=0.0204;FS=5.516;InbreedingCoeff=0.4273;MLEAC=20;MLEAF=0.476;MQ=59.96;MQRankSum=0.00;QD=32.77;ReadPosRankSum=0.809;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,39:39:99:.:.:1705,120,0	8	7	6	0
chr13	23320614	23320615	TG	-	intronic	SGCG	.	.	.	Muscular dystrophy, limb-girdle, type 2C, Autosomal recessive	.	188	423	406	438	67	1349	0.602444	.	.	408805	not_specified|not_provided	MedGen:CN169374|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	.	0.1291	0.0400	0.1078	0.0906	0.0515	0.1427	0.1633	0.1427	0.0002305	6	26028	rs1064794531	0.0330	0.0494	0.0331	0.0329	0.0489	0.0327	0.0326	0.0468	0.0460	0.0087	0.0363	0.0553	0.0489	0.0201	0.0322	0.0331	0.0334	0.0349	0.0006	0.0009	0.0006	0.0007	0.0010	0.0005	0.0005	0.0006	0.0005	0.0001	0	0.0010	0	0.0006	0.0014	0	0.0008	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	14729.47	28	chr13	23320613	.	TTG	GTG,*,T	14729.47	.	AC=16,3,7;AF=0.381,0.071,0.167;AN=42;BaseQRankSum=0.146;DP=715;ExcessHet=4.5793;FS=0.638;InbreedingCoeff=-0.2554;MLEAC=16,2,8;MLEAF=0.381,0.048,0.190;MQ=60.00;MQRankSum=0.00;QD=25.66;ReadPosRankSum=-7.800e-02;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/3:3,0,2,9:14:17:.:.:231,234,302,177,255,258,0,61,17,25	2	3	7	0
chr13	24892884	24892885	AC	-	intronic	CENPJ	.	.	.	Microcephaly 6, primary, autosomal recessive, Autosomal recessive	.	141	1131	185	50	15	300	0.111896	.	.	334164	Seckel_syndrome|not_provided|Primary_Microcephaly,_Recessive	MONDO:MONDO:0019342,MedGen:C0265202,OMIM:PS210600,Orphanet:808|MedGen:C3661900|MedGen:CN239428	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1854	.	0.0168	0.0165	0.0150	0.0025	0.0166	0.0220	0.0247	0.0112	0.0004226	11	26028	rs1491571085	0.0158	0.0295	0.0161	0.0155	0.0177	0.0156	0.0155	0.0174	0.0173	0.0173	0.0081	0.0224	0.0004	0.0122	0.0118	0.0177	0.0141	0.0102	0.0114	0.0124	0.0112	0.0116	0.0230	0.0108	0.0106	0.0216	0.0211	0.0230	0	0.0089	0.0215	0.0004	0.0015	0.0049	0.0036	0.0119	0.0107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	244.0	30	chr13	24892883	.	AAC	*,A	244.0	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=1.37;DP=693;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3549;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=-8.970e-01;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,12,0:31:99:1|0:24892872_CA_C:400,0,718,456,754,1211:24892872	10	0	10	0
chr13	72965328	72965328	A	G	exonic	PIBF1	.	nonsynonymous SNV	PIBF1:NM_006346:exon15:c.A1888G:p.I630V	.	.	433	954	120	15	0	150	0.0728863	.	.	1625324	Joubert_syndrome_33|not_provided	MONDO:MONDO:0033311,MedGen:C4540389,OMIM:617767|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.876	P	0.927	D	0.000	D	1.000	D	1.15	L	2.22	T	-1.168	T	0.029	T	0.121	2.836	15.44	5.12	2.144	3.581	14.731	0.072	.	0.0211	0.0227636	0.0294	0.0043	0.0154	0.0001	0.0150	0.0297	0.0410	0.0741	0.0284214	4394	154602	rs11544631	0.0299	0.0293	0.0279	0.0320	0.0801	0.0297	0.0296	0.0785	0.0778	0.0052	0.0181	0.0534	0.0002	0.0138	0.0725	0.0281	0.0323	0.0801	0.0217	0.0218	0.0217	0.0218	0.0670	0.0211	0.0209	0.0610	0.0586	0.0056	0.1121	0.0216	0.0473	0.0006	0.0153	0.0782	0.0282	0.0241	0.0670	0.17	0.22833	T	0.298	0.42976	T	0.876	0.48154	P	0.927	0.66185	D	0.000019	0.62929	D	0.118519	0.99992	0.51308	D	1.52	0.38360	L	2.22	0.18248	T	-0.52	0.16187	N	0.098	0.18239	-1.1678	0.00583	T	0.029	0.12278	T	10	0.002918452	0.00047	T	.	.	.	0.072	0.21020	.	.	.	.	0.13770529066343418	0.13694	0.0423253043462	0.04561	0.45378190279	0.32461	T	0.015357	0.12895	T	-0.610455	0.00126	T	-0.590473	0.13625	T	0.0385543579617264	0.03430	T	0.626037	0.24205	T	0.06711497	0.14505	0.07295199	0.15797	0.07176528	0.15913	0.07295199	0.15796	-4.3	0.28177	T	0.1953686098761516	0.25771	0.094	0.15070	B	.;.;.	.;.;.	2.022457	0.25704	16.86	0.99822133550549286	0.90502	0.92735	0.56418	D	AEFI	0.406743	0.47911	N	0.42687146605143	0.62904	4.514306	0.455079957116064	0.65044	4.774146	0.99992945366436	0.46280	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.12	5.12	0.69459	3.575000	0.53614	2.945000	0.35685	0.691000	0.84096	1.000000	0.71638	0.974000	0.29927	0.999000	0.91618	1.0:0.0:0.0:0.0	14.731	0.68999	975	0.05339	.;.;.	.	.	.	.	rs11544631	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	0.09524	4824.9	33	chr13	72965328	.	A	G	4824.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.160e-01;DP=942;ExcessHet=0.0082;FS=0.884;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=-1.760e-01;SOR=0.676	GT:AD:DP:GQ:PL	0/1:72,39:111:99:770,0,1747	18	1	2	0
chr14	64767708	64767708	C	T	exonic	SPTB	.	synonymous SNV	SPTB:NM_001024858:exon29:c.G6174A:p.T2058T	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2, Autosomal dominant	YES	2	1486	32	2	0	36	0.0119681	.	.	336538	Elliptocytosis|not_provided|Spherocytosis,_Dominant	Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480|MedGen:C3661900|MedGen:CN239455	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00139776	0.0009	9.614e-05	0.0022	0	0	0.0010	0.0044	0.0007	0.0008797	136	154602	rs146561732	0.0006	0.0006	0.0006	0.0007	0.0215	0.0006	0.0006	0.0184	0.0173	0.0008	0.0025	0.0006	0	0	0.0215	0.0004	0.0017	0.0010	0.0009	0.0009	0.0010	0.0009	0.0039	0.0008	0.0008	0.0031	0.0028	0.0004	0	0.0039	0.0009	0	0	0.0238	0.0008	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	845.98	35	chr14	64767708	.	C	T	845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e-02;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.383;SOR=0.729	GT:AD:DP:GQ:PL	0/1:32,35:67:99:860,0,794	20	0	1	0
chr14	74505149	74505149	C	T	exonic	LTBP2	.	synonymous SNV	LTBP2:NM_000428:exon29:c.G4203A:p.T1401T,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	0	1483	38	1	0	40	0.0133067	.	.	339072	Weill-Marchesani_syndrome|LTBP2-related_disorder|not_provided|Glaucoma_3,_primary_congenital,_D	MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|.|MedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00139776	0.0038	0.0008	0.0013	0	0.0056	0.0054	0.0091	0.0019	0.0035899	555	154602	rs150977380	0.0037	0.0037	0.0037	0.0036	0.0140	0.0036	0.0035	0.0116	0.0107	0.0013	0.0013	0.0235	0	0.0062	0.0140	0.0034	0.0049	0.0021	0.0030	0.0030	0.0030	0.0030	0.0040	0.0028	0.0027	0.0036	0.0034	0.0005	0	0.0010	0.0216	0	0.0054	0.0136	0.0040	0.0043	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5193.68	35	chr14	74505149	.	C	T	5193.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.70;DP=1044;ExcessHet=0.3300;FS=2.631;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-2.800e-02;SOR=0.570	GT:AD:DP:GQ:PL	0/1:78,59:137:99:1464,0,1836	18	0	3	0
chr14	74552291	74552291	G	A	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon6:c.C1295T:p.P432L,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	0	1502	19	1	0	21	0.00694215	.	.	132462	Weill-Marchesani_syndrome_3|Glaucoma_3,_primary_congenital,_D|Microspherophakia_and/or_megalocornea,_with_ectopia_lentis_and_with_or_without_secondary_glaucoma|Pseudoexfoliation_glaucoma|not_provided|Weill-Marchesani_syndrome	MONDO:MONDO:0013899,MedGen:C3553785,OMIM:614819,Orphanet:3449|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976|MONDO:MONDO:0009633,MedGen:C3538951,OMIM:251750,Orphanet:238763|MONDO:MONDO:0008327,MedGen:C0206368,OMIM:177650|MedGen:C3661900|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.52	T	0.111	B	0.011	B	0.141	N	1.000	N	1.085	L	0.82	T	-1.049	T	0.082	T	0.349	1.802	11.98	2.68	1.041	4.813	9.475	0.086	.	0.0005	0.00219649	0.0019	0.0004	8.705e-05	0.0001	0	0.0011	0.0023	0.0085	0.0015782	244	154602	rs137854861	0.0010	0.0010	0.0008	0.0012	0.0077	0.0010	0.0009	0.0072	0.0070	0.0003	0.0006	3.826e-05	0	3.804e-05	0.0071	0.0006	0.0015	0.0077	0.0009	0.0009	0.0008	0.0010	0.0087	0.0008	0.0007	0.0066	0.0059	0.0002	0	0.0019	0.0003	0.0002	0	0.0068	0.0008	0.0005	0.0087	0.786	0.03235	T	0.175	0.30045	T	0.111	0.26235	B	0.011	0.15521	B	0.140672	0.18302	N	0.397320	0.999997	0.08975	N	1.275	0.32135	L	0.82	0.48142	T	-2.96	0.61722	D	0.66	0.79792	-1.0492	0.14621	T	0.082	0.32295	T	10	0.004658282	0.00098	T	.	.	.	0.086	0.25016	.	.	0.448696893172	0.44491	0.5296310797705625	0.52887	0.158631535098	0.17909	0.457526087761	0.32971	T	0.552772	0.84886	D	-0.447621	0.01166	T	-0.410485	0.32170	T	0.029442969772891	0.01904	T	0.79622	0.43953	T	0.049320247	0.08740	0.061357796	0.11835	0.053248297	0.10048	0.061040673	0.11723	-5.75	0.44136	T	.	.	0.081	0.12418	B	.;.	.;.	3.292165	0.45157	22.1	0.91778519781276557	0.21081	0.67916	0.33607	D	AEFDBHCI	0.362874	0.45197	N	-0.567106761961793	0.19950	1.048139	-0.466526081254271	0.23081	1.256938	0.999982259942032	0.51787	0.722319	0.85440	0	0.59043	0.45803	0	0.535252	0.11790	0	0.735409	0.98432	0	.	.	4.9	2.68	0.30839	4.905000	0.62982	7.197000	0.57788	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.415000	0.27117	0.2558:0.0:0.7442:0.0	9.475	0.38029	257	0.89904	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1148.98	38	chr14	74552291	.	G	A	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.913e+00;DP=928;ExcessHet=0.0000;FS=0.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.162;SOR=0.796	GT:AD:DP:GQ:PL	0/1:43,50:93:99:1163,0,1050	20	0	1	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	DICER1-related_tumor_predisposition|not_specified|not_provided	MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343|MedGen:CN169374|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2716.06	13	chr14	95115562	.	G	A	2716.06	.	AC=9;AF=0.214;AN=42;BaseQRankSum=0.489;DP=319;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0090;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=21.90;ReadPosRankSum=-6.350e-01;SOR=0.960	GT:AD:DP:GQ:PL	0/1:5,3:8:99:104,0,191	13	1	7	0
chr14	105146471	105146471	G	A	exonic	JAG2	.	nonsynonymous SNV	JAG2:NM_145159:exon21:c.C2509T:p.R837W	.	.	415	1105	2	0	0	2	0.000904159	.	.	3212332	JAG2-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.997	D	0.707	P	0.378	N	1.000	N	1.1	L	-2.14	D	-0.244	T	0.586	D	0.194	2.419	14.05	4.43	2.002	1.361	10.271	0.262	0.339326556561	.	.	0.0002	9.923e-05	8.672e-05	0	0	1.54e-05	0	0.0012	0.0001488	23	154602	rs764784118	0.0001	0.0001	6.404e-05	0.0002	0.0018	0.0001	9.909e-05	0.0016	0.0015	5.975e-05	2.236e-05	0	0	0	0.0002	8.994e-06	9.939e-05	0.0018	3.942e-05	3.94e-05	1.284e-05	6.726e-05	0.0004	1.715e-05	1.129e-05	7.279e-05	3.025e-05	2.412e-05	0	0	0	0	0	0	4.41e-05	0	0.0004	0.015	0.52492	D	0.017	0.60337	D	0.994	0.70673	D	0.513	0.54387	P	0.378069	0.13429	N	0.711686	0.999993	0.08975	N	1.78	0.46185	L	-2.14	0.86415	D	-3.81	0.71882	D	0.345	0.38643	-0.2443	0.76513	T	0.586	0.85127	D	10	0.09262708	0.16326	T	0.339327	0.91971	D	0.262	0.57482	.	.	0.560968441767	0.55758	0.49239059457074763	0.49160	0.582582740408	0.54013	0.235891759396	0.02432	T	0.726423	0.92308	D	-0.330435	0.06080	T	-0.272051	0.47611	T	0.154300095333118	0.17441	T	0.611639	0.34191	T	0.11047998	0.26113	0.10720317	0.25803	0.11047998	0.26113	0.10720317	0.25803	-10.261	0.77037	D	.	.	0.084	0.14706	B	.;.	.;.	4.014515	0.59245	24.1	0.99894729204144783	0.96819	0.18195	0.20159	N	AEFDGBI	0.409618	0.48082	N	-0.0247450052588098	0.40737	2.424403	-0.10692569971223	0.35109	2.02742	0.999386504411615	0.39415	0.67177	0.52595	0	0.588066	0.40923	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	4.43	4.43	0.52967	1.485000	0.35127	2.473000	0.32905	0.614000	0.49286	0.007000	0.17678	0.187000	0.23467	0.340000	0.25432	0.0:0.0:0.6767:0.3233	10.271	0.42662	982	0.03397	VWFC domain|VWFC domain|VWFC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2849.98	35	chr14	105146471	.	G	A	2849.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=920;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=0.171;SOR=0.727	GT:AD:DP:GQ:PL	0/1:93,107:200:99:2864,0,2240	20	0	1	0
chr15	44564675	44564675	G	A	exonic	SPG11	.	synonymous SNV	SPG11:NM_001160227:exon37:c.C6684T:p.Y2228Y	Amyotrophic lateral sclerosis 5, juvenile, Autosomal recessive;Charcot-Marie-Tooth disease, axonal, type 2X, Autosomal recessive;Spastic paraplegia 11, autosomal recessive, Autosomal recessive	YES	1	1381	130	10	0	150	0.051511	.	.	49781	not_specified|Hereditary_spastic_paraplegia|Hereditary_spastic_paraplegia_11	MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0011445,MedGen:C1858479,OMIM:604360,Orphanet:2822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0219	0.0117812	0.0201	0.0044	0.0163	0.0002	0.0029	0.0285	0.0277	0.0159	0.0208794	3228	154602	rs80338869	0.0265	0.0265	0.0265	0.0265	0.0466	0.0263	0.0262	0.0421	0.0403	0.0045	0.0202	0.0316	7.559e-05	0.0055	0.0466	0.0298	0.0277	0.0176	0.0189	0.0189	0.0202	0.0176	0.0286	0.0183	0.0181	0.0275	0.0271	0.0052	0.0164	0.0265	0.0294	0.0002	0.0039	0.0306	0.0286	0.0222	0.0203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	955.98	33	chr15	44564675	.	G	A	955.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e+00;DP=748;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.20;ReadPosRankSum=0.049;SOR=0.796	GT:AD:DP:GQ:PL	0/1:19,40:59:99:970,0,420	20	0	1	0
chr15	50586433	50586433	G	A	exonic	TRPM7	.	nonsynonymous SNV	TRPM7:NM_001301212:exon28:c.C4445T:p.T1482I	.	.	433	876	190	23	0	236	0.118712	.	.	19846	not_provided|TRPM7-related_disorder|Amyotrophic_lateral_sclerosis-parkinsonism/dementia_complex_1,_susceptibility_to|Juvenile_amyotrophic_lateral_sclerosis	MedGen:C3661900|.|.|MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.186	B	0.098	B	0.953	N	0.717	P	0.55	N	0.53	T	-1.053	T	0.002	T	0.054	1.637	11.43	2.19	0.380	1.970	2.709	0.037	.	0.0797	0.0758786	0.0870	0.0202	0.0527	0.0765	0.0530	0.0998	0.0926	0.1180	0.0873598	13506	154602	rs8042919	0.1013	0.1018	0.1007	0.1018	0.1383	0.1008	0.1007	0.1352	0.1340	0.0163	0.0587	0.0692	0.1383	0.0548	0.0875	0.1069	0.0999	0.1075	0.0751	0.0751	0.0765	0.0737	0.1220	0.0740	0.0735	0.1139	0.1107	0.0215	0.0768	0.0644	0.0793	0.0980	0.0531	0.0952	0.1082	0.0804	0.1220	0.247	0.39575	T	0.121	0.42436	T	0.186	0.29254	B	0.098	0.30479	B	0.953328	0.08272	N	0.978397	0.717259	0.29956	P	0.895	0.22405	L	0.53	0.55266	T	-1.36	0.37375	N	0.014	0.00445	-1.0529	0.13601	T	0.002	0.00738	T	9	0.0014967024	0.00017	T	.	.	.	0.037	0.09474	.	.	.	.	0.3374016641413803	0.33653	0.130681104142	0.14746	0.357630670071	0.19040	T	0.195563	0.55168	T	-0.662195	0.00061	T	-0.580153	0.14532	T	0.00958415804392686	0.00124	T	0.585341	0.21547	T	0.020128323	0.00561	0.032518517	0.02001	0.020128323	0.00560	0.032518517	0.02001	-4.246	0.27412	T	.	.	0.126	0.34711	B	.;.;.	.;.;.	2.320220	0.29709	18.21	0.98708867514803611	0.45025	0.74352	0.36372	D	AEFBI	0.079394	0.16036	N	-0.34388404852293	0.27498	1.509134	-0.227690699432226	0.30549	1.720951	0.0124718101751214	0.12332	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.25	2.19	0.26890	1.985000	0.40289	2.360000	0.32366	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.1071:0.1809:0.5253:0.1866	2.709	0.04851	544	0.72685	.;.;.	SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|TRPM7|SPPL2A|RP11-562A8.4|SPPL2A|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|SPPL2A|TNFAIP8L3|SPPL2A|SPPL2A|SPPL2A|GLDN|TRPM7|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|AP4E1|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|RP11-562A8.5|USP50|SPPL2A|SPPL2A|AP4E1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Whole_Blood	SPPL2A|RP11-562A8.5|RP11-562A8.4|USP50	Cells_Cultured_fibroblasts|Testis|Testis|Testis	rs8042919	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	0.07143	4020.68	35	chr15	50586433	.	G	A	4020.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.950e-01;DP=1048;ExcessHet=0.3300;FS=0.799;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.083;SOR=0.753	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1135,0,1124	18	0	3	0
chr15	59256276	59256276	C	T	intronic	MYO1E	.	.	.	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	.	26	0	7	1489	0	2985	1	0	0	971023	not_specified|not_provided|Focal_segmental_glomerulosclerosis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9775	0.97504	0.9939	0.9331	0.9973	1	1	0.9998	0.9967	0.9999	0.950408	146935	154602	rs4508371	0.9981	0.9980	0.9978	0.9983	1.0000	0.9967	0.9961	0.9983	0.9976	0.9313	0.9973	1.0000	1.0000	1.0000	0.9970	0.9999	0.9960	0.9999	0.9812	0.9812	0.9812	0.9813	1.0000	0.9771	0.9753	0.9934	0.9908	0.9344	1.0000	0.9945	1.0000	1.0000	1.0000	0.9864	0.9997	0.9887	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	79118.81	83	chr15	59256276	.	C	T	79118.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=2.30;DP=2826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=28.56;ReadPosRankSum=1.38;SOR=0.954	GT:AD:DP:GQ:PL	1/1:0,113:113:99:3178,339,0	0	21	0	0
chr15	68207980	68207983	ACAC	-	UTR3	CLN6	NM_017882:c.*160_*157delGTGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	205	10	0	6	5	17	0.375	.	.	341232	Neuronal_Ceroid-Lipofuscinosis,_Recessive|not_provided	MedGen:CN239323|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs141886537	0.4732	0.4569	0.4793	0.4678	0.5300	0.4716	0.4709	0.5278	0.5268	0.3809	0.4432	0.4817	0.1587	0.4999	0.4595	0.5300	0.4818	0.3368	0.4804	0.4792	0.4870	0.4734	0.5565	0.4774	0.4762	0.5518	0.5498	0.3924	0.4592	0.4948	0.4910	0.1749	0.5171	0.5274	0.5565	0.4919	0.3444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7778	4747.06	3	chr15	68207979	.	GACAC	G,GACACAC	4747.06	.	AC=14,18;AF=0.389,0.500;AN=36;BaseQRankSum=-4.310e-01;DP=175;ExcessHet=0.8031;FS=1.245;InbreedingCoeff=0.1441;MLEAC=15,20;MLEAF=0.417,0.556;MQ=60.00;MQRankSum=0.00;QD=33.91;ReadPosRankSum=-5.450e-01;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,2:2:6:.:.:71,71,71,6,6,0	0	4	2	3
chr15	71811618	71811618	G	A	intronic	NR2E3	.	.	.	Enhanced S-cone syndrome, Autosomal recessive;Retinitis pigmentosa 37, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	332946	not_provided|Retinitis_Pigmentosa,_Recessive|Retinitis_pigmentosa|Goldmann-Favre_syndrome|Enhanced_S-cone_syndrome	MedGen:C3661900|MedGen:CN239466|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0100289,MedGen:C0339541,Orphanet:53540|MONDO:MONDO:0100288,MedGen:C1849394,OMIM:268100,Orphanet:53540	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0002	0	0	8.72e-05	0	0.0003	5.82e-05	9	154602	rs538864090	6.207e-05	6.43e-05	5.48e-05	6.945e-05	0.0004	5.136e-05	4.754e-05	0.0003	0.0002	9.005e-05	0.0002	0	0.0004	0	0	3.433e-05	5.005e-05	0.0002	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.542e-05	0	0.0002	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1884.98	35	chr15	71811618	.	G	A	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=928;ExcessHet=0.0000;FS=0.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-2.522e+00;SOR=0.637	GT:AD:DP:GQ:PL	0/1:99,78:177:99:1899,0,2418	20	0	1	0
chr15	82538982	82538982	A	G	exonic	RPS17	.	synonymous SNV	RPS17:NM_001021:exon3:c.T159C:p.Y53Y,	Diamond-Blackfan anemia 4, Autosomal dominant	YES	21	707	596	198	0	992	0.412303	.	.	409353	Diamond-Blackfan_anemia|not_specified	Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs6991	0.3098	0.3099	0.3048	0.3149	0.4205	0.3091	0.3088	0.4169	0.4154	0.1579	0.1629	0.3116	0.2790	0.3769	0.3362	0.3093	0.3116	0.4205	0.2641	0.2643	0.2614	0.2669	0.4165	0.2619	0.2610	0.4013	0.3951	0.1651	0.3936	0.2043	0.2966	0.2364	0.3693	0.3605	0.3087	0.2768	0.4165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	1	0.2619	14224.26	122	chr15	82538982	.	A	G	14224.26	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-7.740e-01;DP=1552;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1378;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-2.400e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/1:76,51:127:99:1041,0,1740	12	2	7	0
chr16	15725135	15725135	A	-	UTR3	NDE1	NM_001143979:c.*884delA;NM_017668:c.*884delA	.	.	Lissencephaly 4 (with microcephaly), Autosomal recessive	.	500	719	142	6	155	309	0.0967337	.	.	333972	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1305880573	0.1861	0.1425	0.1870	0.1852	0.2867	0.1849	0.1844	0.2782	0.2747	0.2867	0.2002	0.1976	0.2168	0.2046	0.2114	0.1792	0.1980	0.1522	0.0833	0.0835	0.0830	0.0835	0.2302	0.0820	0.0814	0.2261	0.2244	0.2302	0	0.0405	0.0239	0.0395	0.0450	0.0187	0.0183	0.0628	0.0215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4750.45	99	chr16	15725134	.	TA	T,TAA	4750.45	.	AC=5,9;AF=0.119,0.214;AN=42;BaseQRankSum=-1.360e-01;DP=2854;ExcessHet=14.4320;FS=1.194;InbreedingCoeff=-0.5163;MLEAC=5,9;MLEAF=0.119,0.214;MQ=60.00;MQRankSum=0.00;QD=3.13;ReadPosRankSum=0.858;SOR=0.574	GT:AD:DP:GQ:PL	0/1:88,18,16:122:81:113,0,2032,81,1543,2061	7	0	5	0
chr16	21736312	21736312	A	C	exonic	OTOA	.	nonsynonymous SNV	OTOA:NM_170664:exon12:c.A1381C:p.T461P	Deafness, autosomal recessive 22, Autosomal recessive	.	1	1455	66	0	0	66	0.0221774	.	.	215510	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_22|OTOA-related_disorder	MedGen:CN169374|MONDO:MONDO:0011762,MedGen:C1846896,OMIM:607039,Orphanet:90636|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.88	T	0.0	B	0.0	B	0.008	N	1.000	N	-1.935	N	2.52	T	-1.000	T	0.047	T	0.192	-2.267	0.004	4.18	0.970	1.088	9.298	0.069	.	.	.	0.0017	0.0004	0.0057	0.0127	0.0006	0.0002	0.0044	0.0005	0.0001164	18	154602	rs464696	0.0027	0.0155	0.0028	0.0027	0.1093	0.0026	0.0026	0.1058	0.1044	0.0002	0.0153	0.0005	0.1093	0.0052	0.0004	0.0002	0.0026	0.0002	0.0093	0.0252	0.0078	0.0108	0.1123	0.0089	0.0087	0.1033	0.0997	0.0016	0	0.0358	0.0018	0.1123	0.0247	0	0.0014	0.0130	0.0105	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.008262	0.30928	N	0.263615	1	0.08975	N	-2.625	0.00040	N	2.52	0.62318	T	2.17	0.00446	N	0.111	0.12627	-0.9997	0.30002	T	0.047	0.19958	T	10	0.0033976436	0.00059	T	.	.	.	0.069	0.20116	.	.	0.223146558224	0.21909	0.30179339080132905	0.30092	0.215439360874	0.24075	0.405836969614	0.25881	T	0.01218	0.10748	T	-0.202969	0.20376	T	-0.529328	0.19354	T	0.0111524314979181	0.00163	T	0.20078	0.02277	T	0.107776865	0.25484	0.15349354	0.36067	0.107776865	0.25484	0.15349354	0.36066	-2.206	0.04638	T	.	.	0.038	0.00015	B	.;.;.;.;.	.;.;.;.;.	1.383796	0.17959	13.47	0.095317068874266858	0.00099	0.00036	0.00313	N	AEFDI	0.015862	0.00323	N	-1.45616380541738	0.02168	0.09546992	-1.3117935872963	0.04277	0.2013871	0.00715302757995105	0.11398	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	4.18	0.48473	1.165000	0.31432	3.981000	0.40905	-0.453000	0.05137	0.018000	0.19461	0.999000	0.35428	0.067000	0.16453	0.215:0.785:0.0:0.0	9.298	0.36990	616	0.66398	.;.;.;.;.	.	.	.	.	.	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	0.02381	1049.98	53	chr16	21736312	.	A	C	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.994;DP=894;ExcessHet=0.0000;FS=5.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.99;MQRankSum=-7.580e+00;QD=11.05;ReadPosRankSum=-1.490e+00;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,30:95:99:0|1:21736312_A_C:1064,0,2639:21736312	20	0	1	0
chr16	21736318	21736318	G	T	exonic	OTOA	.	stopgain	OTOA:NM_170664:exon12:c.G1387T:p.E463X	Deafness, autosomal recessive 22, Autosomal recessive	YES	1	1455	66	0	0	66	0.0221774	.	.	215511	Autosomal_recessive_nonsyndromic_hearing_loss_22|not_specified|Rare_genetic_deafness	MONDO:MONDO:0011762,MedGen:C1846896,OMIM:607039,Orphanet:90636|MedGen:CN169374|MedGen:C5680250,Orphanet:96210	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.32	T	.	.	.	.	0.001	N	1.000	A	.	.	.	.	.	.	.	.	.	5.286	33	4.18	2.143	4.877	11.841	.	.	.	.	0.0012	0.0002	0.0027	0.0109	0.0005	0.0001	0.0033	0.0005	0.0006916	18	26028	rs200988634	0.0028	0.0161	0.0029	0.0027	0.1161	0.0027	0.0027	0.1125	0.1111	0.0002	0.0146	0.0005	0.1161	0.0057	0.0004	0.0002	0.0027	0.0003	0.0104	0.0256	0.0090	0.0118	0.1263	0.0100	0.0098	0.1168	0.1130	0.0019	0	0.0392	0.0018	0.1263	0.0277	0	0.0015	0.0155	0.0118	.	.	.	.	.	.	.	.	.	.	.	.	0.001261	0.39594	N	0.206543	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.261	0.31027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618043	0.98066	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.	.;High;.;.;.	9.249701	0.98674	40	0.99684581723761778	0.79507	0.86612	0.45929	D	AEFDI	0.050671	0.08878	N	0.716862464402532	0.80737	7.361173	0.480573662879012	0.66703	4.986821	0.150217142613918	0.17427	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	4.18	0.48473	5.039000	0.63980	9.820000	0.81798	0.458000	0.21545	1.000000	0.71638	1.000000	0.68203	0.265000	0.23644	0.0:0.0:1.0:0.0	11.841	0.51630	616	0.66398	.;.;.;.;.	.	.	.	.	.	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	0.02381	1085.98	53	chr16	21736318	.	G	T	1085.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.110e-01;DP=897;ExcessHet=0.0000;FS=5.506;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.15;MQRankSum=-7.509e+00;QD=11.08;ReadPosRankSum=-1.068e+00;SOR=1.274	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,31:98:99:0|1:21736312_A_C:1100,0,2700:21736312	20	0	1	0
chr16	23393263	23393263	C	T	exonic	COG7	.	nonsynonymous SNV	COG7:NM_153603:exon15:c.G1972A:p.A658T,	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	703566	COG7_congenital_disorder_of_glycosylation|COG7-related_disorder	MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.6	T	0.279	B	0.066	B	0.000	D	1.000	D	0.975	L	0.94	T	-1.104	T	0.051	T	0.229	1.061	9.333	4.03	1.094	4.720	12.375	0.073	0.0166757735238	7.7e-05	0.000998403	0.0004	0.0002	0.0011	0.0034	0	1.511e-05	0.0023	6.231e-05	0.0003363	52	154602	rs115073082	0.0003	0.0003	0.0003	0.0003	0.0082	0.0003	0.0003	0.0075	0.0072	2.987e-05	0.0010	0	0.0082	1.872e-05	0	2.698e-05	0.0001	2.32e-05	0.0002	0.0002	0.0001	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	4.812e-05	0	0.0003	0	0.0037	0	0	5.881e-05	0	0	0.295	0.14743	T	0.342	0.17910	T	0.279	0.32056	B	0.066	0.27432	B	0.000000	0.84330	D	0.049599	0.999848	0.49770	D	1.9	0.50570	L	0.94	0.43672	T	-1.17	0.29933	N	0.443	0.48134	-1.1042	0.03620	T	0.051	0.21844	T	10	0.011495858	0.00251	T	0.016676	0.38050	T	0.073	0.21317	.	.	0.284539287134	0.28064	0.4792434155106962	0.47844	0.28602195282	0.31010	0.864694714546	0.91801	D	0.041579	0.25903	T	-0.489876	0.00651	T	-0.476457	0.24824	T	0.0135091314516237	0.00248	T	0.913409	0.69158	D	0.10181508	0.24053	0.09264649	0.21845	0.10181508	0.24053	0.09264649	0.21844	-3.74	0.19910	T	0.18223007271542266	0.23536	0.086	0.10691	B	.	.	2.842233	0.37502	20.5	0.87022526823624036	0.16934	0.84683	0.43769	D	ALL	0.321683	0.42441	N	-0.602202662218605	0.18877	0.9836445	-0.548693040299673	0.20841	1.124697	0.999999999960819	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.548927	0.17530	0	.	.	4.98	4.03	0.46115	4.812000	0.62303	5.898000	0.50850	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.753000	0.35893	0.0:0.9182:0.0:0.0818	12.375	0.54602	671	0.60868	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3718.98	37	chr16	23393263	.	C	T	3718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=1109;ExcessHet=0.0000;FS=3.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=-5.870e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/1:156,147:303:99:3733,0,3766	20	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_provided|Inflammatory_bowel_disease_1|not_specified	MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MedGen:CN169374	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1498.98	34	chr16	50699481	.	T	A	1498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.580e-01;DP=1069;ExcessHet=0.0000;FS=5.132;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=0.087;SOR=1.131	GT:AD:DP:GQ:PL	0/1:79,62:141:99:1513,0,2013	20	0	1	0
chr16	56511263	56511263	T	C	exonic	BBS2	.	nonsynonymous SNV	BBS2:NM_001377456:exon3:c.A367G:p.I123V	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive	YES	7	1085	379	51	0	481	0.181441	.	.	255825	Bardet-Biedl_syndrome_1|Bardet-Biedl_syndrome|not_provided|Retinitis_pigmentosa_74|Retinal_dystrophy|not_specified|Bardet-Biedl_syndrome_2	MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:C3661900|MONDO:MONDO:0014692,MedGen:C4225281,OMIM:616562,Orphanet:791|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|MedGen:CN169374|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.003	B	0.007	N	0.726	P	0.4	N	-1.58	D	-1.014	T	0.000	T	0.05	0.277	5.499	0.542	-0.180	0.402	5.865	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.07143	4243.68	34	chr16	56511263	.	T	C	4243.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.367;DP=1078;ExcessHet=0.3300;FS=4.788;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=0.301;SOR=0.490	GT:AD:DP:GQ:PL	0/1:62,44:106:99:1180,0,1725	18	0	3	0
chr16	75478836	75478836	C	A	exonic	CHST6	.	nonsynonymous SNV	CHST6:NM_021615:exon3:c.G993T:p.Q331H,	Macular corneal dystrophy, Autosomal recessive	.	0	1495	27	0	0	27	0.00894929	.	.	193668	not_specified|Macular_corneal_dystrophy	MedGen:CN169374|MONDO:MONDO:0009020,MedGen:C1636149,OMIM:217800,Orphanet:98969	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	1.0	D	0.996	D	0.001	D	1.000	D	2.005	M	-6.62	D	1.090	D	0.984	D	0.436	3.976	20.4	4.9	2.278	4.743	15.563	0.620	.	0.0012	0.00319489	0.0042	0.0003	0.0006	0	0.0002	0.0014	0.0067	0.0239	0.0034993	541	154602	rs140699573	0.0024	0.0024	0.0016	0.0032	0.0261	0.0023	0.0023	0.0252	0.0249	0.0004	0.0006	0.0103	0	7.586e-05	0.0057	0.0007	0.0025	0.0261	0.0016	0.0016	0.0013	0.0020	0.0213	0.0015	0.0014	0.0180	0.0167	0.0002	0	0.0031	0.0078	0.0002	0	0.0034	0.0008	0.0028	0.0213	0.002	0.72154	D	0.087	0.40747	T	1.0	0.90584	D	0.996	0.84481	D	0.000531	0.43581	D	0.203184	0.999671	0.48205	D	2.25	0.63811	M	-6.62	0.99745	D	-3.09	0.63438	D	0.511	0.70527	1.090	0.99251	D	0.984	0.99498	D	10	0.011656791	0.00254	T	.	.	.	0.620	0.85249	0.48	0.55983	0.998818162847	0.99880	0.6734239388447089	0.67280	0.881255799373	0.69779	0.641511797905	0.58779	T	0.76605	0.93701	D	-0.116344	0.33724	T	0.0790272	0.75513	D	0.0266110235997233	0.01490	T	0.960204	0.84976	D	0.6321353	0.74412	0.6138076	0.77525	0.7305861	0.79758	0.631946	0.78527	-8.366	0.63538	D	0.44799476497747936	0.53232	0.444	0.61887	A	.;.;.	.;.;.	3.976525	0.58430	24.0	0.99673370606959577	0.78717	0.97880	0.77824	D	AEFGBI	0.741657	0.68552	D	0.620941588707204	0.74502	6.143385	0.594727862667393	0.74561	6.157997	0.99999996070518	0.74766	0.718356	0.82227	0	0.633656	0.55848	0	0.570548	0.19454	0	0.586402	0.36253	0	.	.	4.9	4.9	0.63643	4.818000	0.62347	1.802000	0.28890	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	15.563	0.76007	657	0.62240	Sulfotransferase domain;Sulfotransferase domain;Sulfotransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2506.98	36	chr16	75478836	.	C	A	2506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.664e+00;DP=915;ExcessHet=0.0000;FS=4.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=-5.440e-01;SOR=0.752	GT:AD:DP:GQ:PL	0/1:63,96:159:99:2521,0,1550	20	0	1	0
chr16	81365421	81365421	C	T	exonic	GAN	.	nonsynonymous SNV	GAN:NM_001377486:exon8:c.C806T:p.A269V	Giant axonal neuropathy-1, Autosomal recessive	YES	0	1509	13	0	0	13	0.00428901	.	.	260130	Giant_axonal_neuropathy_1|Inborn_genetic_diseases|not_provided|GAN-related_disorder	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850,Orphanet:643|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.0	B	0.003	U	0.999	N	0	N	-0.9	T	-0.928	T	0.122	T	0.032	1.074	9.386	1.92	1.080	1.829	0.394	0.169	0.00698229992254	0.0018	0.000798722	0.0016	0.0003	0.0005	0	0.0006	0.0025	0.0033	0.0009	0.0016106	249	154602	rs146576740	0.0024	0.0024	0.0023	0.0024	0.0066	0.0023	0.0023	0.0049	0.0044	0.0003	0.0008	0.0063	0	0.0006	0.0066	0.0026	0.0025	0.0010	0.0016	0.0016	0.0017	0.0015	0.0029	0.0015	0.0014	0.0025	0.0024	0.0004	0	0.0004	0.0049	0	0.0005	0.0137	0.0029	0.0029	0.0004	.	.	.	0.594	0.08106	T	0.0	0.02946	B	0.0	0.01387	B	0.003040	0.00935	U	6.382080	0.998759	0.21933	N	0	0.06538	N	.	.	.	.	.	.	0.189	0.20660	-0.9280	0.44429	T	0.122	0.42441	T	10	0.005330026	0.00117	T	0.006982	0.18485	T	.	.	.	.	0.578358932345	0.57506	0.1521723545216214	0.15139	0.117023510789	0.13191	0.303755044937	0.10963	T	0.203817	0.56240	T	-0.655028	0.00067	T	-0.719537	0.04818	T	0.00949088217655487	0.00122	T	0.531447	0.17660	T	0.02507069	0.01405	0.05703459	0.10296	0.02507069	0.01404	0.05703459	0.10296	-3.859	0.21689	T	.	.	0.059	0.00847	B	.;.	.;.	2.314733	0.29634	18.18	0.91099192627316949	0.20352	0.61644	0.31545	D	AEFGBI	0.068096	0.13418	N	-0.712853772984774	0.15660	0.7911482	-0.526383153771703	0.21437	1.159715	0.948983700656583	0.27825	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.69	1.92	0.24912	0.796000	0.26646	3.573000	0.39130	-0.167000	0.11441	0.997000	0.40164	1.000000	0.68203	0.860000	0.40782	0.2989:0.1644:0.137:0.3997	0.394	0.00386	850	0.35610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1883.98	44	chr16	81365421	.	C	T	1883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.346e+00;DP=1000;ExcessHet=0.0000;FS=5.835;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-3.710e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:74,81:155:99:1898,0,1787	20	0	1	0
chr16	86513394	86513394	-	T	UTR3	FOXF1	NM_001451:c.*309_*310insT	.	.	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	.	1165	284	20	53	0	126	0.181556	.	.	336349	Alveolar_capillary_dysplasia_with_pulmonary_venous_misalignment|not_provided	MONDO:MONDO:0009934,MedGen:C2960310,OMIM:265380,Orphanet:210122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18799	4893	26028	rs11392376	0.3517	0.2949	0.3418	0.3609	0.7850	0.3497	0.3489	0.7685	0.7618	0.7850	0.3611	0.3453	0.1825	0.3261	0.4485	0.3177	0.3568	0.4954	0.4602	0.4615	0.4635	0.4567	0.7838	0.4573	0.4561	0.7766	0.7737	0.7838	0.2923	0.3829	0.3420	0.1934	0.3376	0.5272	0.3267	0.4238	0.4940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3044.08	1	chr16	86513394	.	C	CT	3044.08	.	AC=10;AF=0.417;AN=24;BaseQRankSum=0.00;DP=89;ExcessHet=0.0018;FS=4.581;InbreedingCoeff=0.2944;MLEAC=15;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.38;SOR=0.247	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:86513394_C_CT:90,6,0:86513394	6	4	2	9
chr16	89816740	89816740	-	GGCCTTGCGTCGT	upstream	FANCA	dist=93	.	.	Fanconi anemia, complementation group A, Autosomal recessive	.	50	1018	318	136	0	590	0.224676	.	.	208324	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522963	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs11275235	0.2739	0.2644	0.2665	0.2809	0.9576	0.2728	0.2723	0.9471	0.9428	0.4104	0.4624	0.1766	0.9576	0.3603	0.2057	0.2121	0.3030	0.4074	0.3957	0.3973	0.3848	0.4071	0.9688	0.3931	0.3920	0.9463	0.9370	0.4731	0.2539	0.4650	0.1948	0.9688	0.3791	0.1747	0.3009	0.3658	0.4746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8497.7	6	chr16	89816740	.	A	AGGCCTTGCGTCGT	8497.7	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.389;DP=389;ExcessHet=0.0321;FS=22.573;InbreedingCoeff=0.3750;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=30.65;ReadPosRankSum=0.524;SOR=0.064	GT:AD:DP:GQ:PL	0/1:3,5:8:99:201,0,111	10	5	6	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.938	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.095	12.96	5.06	2.751	6.097	18.302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2024.09	102	chr17	3648932	.	G	C	2024.09	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.410e+00;DP=2311;ExcessHet=20.9642;FS=326.408;InbreedingCoeff=-0.6490;MLEAC=17;MLEAF=0.425;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.04;SOR=11.378	GT:AD:DP:GQ:PL	0/1:65,43:121:99:145,0,968	4	0	16	1
chr17	11854426	11854426	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon50:c.G9931A:p.A3311T,	.	.	421	1093	8	0	0	8	0.00364631	0	0.036	2231942	not_provided|Inborn_genetic_diseases|DNAH9-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.47	T	0.017	B	0.022	B	0.341	N	1.000	N	1.99	M	-1.35	T	-0.825	T	0.321	T	0.116	1.625	11.39	-6.77	-1.149	0.289	10.787	0.199	0.0165919456704	0.0002	0.00119808	0.0009	9.897e-05	0.0010	0	0	0.0002	0.0012	0.0057	0.0007438	115	154602	rs139176958	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0004	0.0049	0.0047	2.996e-05	0.0007	3.873e-05	0	1.876e-05	0.0038	0.0002	0.0005	0.0053	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	2.408e-05	0	0.0002	0	0.0002	9.457e-05	0.0034	0.0003	0.0009	0.0054	0.426	0.12109	T	0.437	0.13441	T	0.017	0.17573	B	0.022	0.19653	B	0.340874	0.13965	N	0.710500	1	0.08975	N	1.38	0.34346	L	-1.35	0.80035	T	-1.94	0.45042	N	0.144	0.14622	-0.8245	0.53651	T	0.321	0.68969	T	10	0.0053035915	0.00116	T	0.016592	0.37919	T	0.199	0.48268	.	.	0.311691414656	0.30774	0.06991057062677458	0.06929	0.0872234964637	0.09831	0.215966016054	0.01090	T	0.196887	0.67158	T	-0.487925	0.00667	T	-0.472142	0.25286	T	0.0122225140822567	0.00197	T	0.80032	0.44603	T	0.042935245	0.06603	0.07626091	0.16872	0.043369338	0.06745	0.08129773	0.18463	-6.04	0.46613	T	.	.	0.068	0.02639	B	.;.;.	.;.;.	0.320326	0.06949	3.496	0.91704226793336741	0.20998	0.09032	0.14867	N	AEFBI	0.121297	0.23589	N	-1.18035635800702	0.05297	0.2411523	-1.26361198420955	0.04932	0.2338548	2.73436185864375E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	-6.77	0.01565	0.422000	0.21016	-4.487000	0.02131	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.936000	0.47498	0.1887:0.0:0.7208:0.0904	10.787	0.45612	692	0.58729	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	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	0.02381	1016.98	41	chr17	11854426	.	G	A	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.67;ReadPosRankSum=0.305;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,27:61:99:0|1:11854426_G_A:1031,0,1326:11854426	20	0	1	0
chr17	11854427	11854427	C	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon50:c.C9932A:p.A3311D,	.	YES	419	1095	8	0	0	8	0.00363967	0.0156	0.184	2222908	Inborn_genetic_diseases|DNAH9-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.54	T	0.421	B	0.493	P	0.341	N	0.537	D	2.115	M	-1.4	T	-0.054	T	0.523	D	0.273	2.425	14.07	4.48	1.529	2.152	14.183	0.280	0.0526994242547	0.0002	0.000998403	0.0009	9.929e-05	0.0009	0	0	0.0002	0.0012	0.0057	0.0007309	113	154602	rs149935831	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0004	0.0049	0.0047	2.995e-05	0.0005	3.878e-05	0	1.877e-05	0.0038	0.0002	0.0005	0.0053	0.0004	0.0004	0.0003	0.0004	0.0054	0.0003	0.0003	0.0038	0.0032	2.406e-05	0	0.0001	0	0.0002	9.422e-05	0.0034	0.0003	0.0009	0.0054	0.33	0.16903	T	0.084	0.41239	T	0.421	0.35387	B	0.493	0.47443	P	0.340874	0.13965	N	0.710500	1	0.08975	N	1.605	0.40863	L	-1.4	0.80474	T	-3.43	0.67359	D	0.418	0.45898	-0.0538	0.81126	T	0.523	0.82235	D	10	0.007364273	0.00167	T	0.052699	0.65173	D	0.280	0.59740	.	.	0.827812717529	0.82617	0.33970851897950133	0.33883	0.312824787372	0.33584	0.24742603302	0.03501	T	0.32141	0.82969	T	-0.375914	0.03305	T	-0.311384	0.43509	T	0.0949806294149308	0.11796	T	0.905909	0.66829	D	0.413711	0.61670	0.4236696	0.66230	0.43074062	0.62801	0.4441394	0.67606	-6.907	0.53351	T	.	.	0.149	0.36174	B	.;.;.	.;.;.	2.772828	0.36401	20.2	0.99334938761527458	0.59934	0.20219	0.20959	N	AEFBI	0.211628	0.33740	N	-0.204445868062762	0.32951	1.864017	-0.242335257653652	0.30036	1.687775	5.37750915066184E-4	0.07248	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	4.48	0.53973	2.357000	0.43779	3.898000	0.40333	0.599000	0.40250	0.007000	0.17678	0.219000	0.23700	0.943000	0.48514	0.0:0.9286:0.0:0.0713	14.183	0.65125	692	0.58729	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	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	0.02381	1016.98	41	chr17	11854427	.	C	A	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.630e-01;DP=808;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.67;ReadPosRankSum=0.164;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,27:61:99:0|1:11854426_G_A:1031,0,1326:11854426	20	0	1	0
chr17	41819452	41819452	G	T	intronic	FKBP10	.	.	.	Bruck syndrome 1, Autosomal recessive;Osteogenesis imperfecta, type XI, Autosomal recessive	YES	1	1394	119	8	0	135	0.0461854	.	.	188883	not_provided|Osteogenesis_imperfecta_type_11|FKBP10-related_disorder	MedGen:C3661900|MONDO:MONDO:0012592,MedGen:C3151218,OMIM:610968,Orphanet:666|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	.	.	.	.	.	.	.	.	0.0023027	356	154602	rs141387386	0.0125	0.0125	0.0121	0.0129	0.0361	0.0124	0.0123	0.0320	0.0305	0.0015	0.0047	0.0373	0	0.0097	0.0361	0.0127	0.0146	0.0158	0.0096	0.0096	0.0100	0.0092	0.0148	0.0092	0.0090	0.0140	0.0137	0.0018	0	0.0041	0.0375	0.0004	0.0079	0.0306	0.0148	0.0119	0.0131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2800.11	34	chr17	41819452	.	G	T	2800.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.463e+00;DP=903;ExcessHet=0.1072;FS=1.008;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=0.372;SOR=0.597	GT:AD:DP:GQ:PL	0/1:78,62:140:99:1558,0,2116	19	0	2	0
chr17	50192029	50192029	G	T	intronic	COL1A1	.	.	.	Caffey disease, Autosomal dominant;Ehlers-Danlos syndrome, classic, Autosomal dominant;Ehlers-Danlos syndrome, type VIIA, Autosomal dominant;Osteogenesis imperfecta, type I, Autosomal dominant;Osteogenesis imperfecta, type II, Autosomal dominant;Osteogenesis imperfecta, type III, Autosomal dominant;Osteogenesis imperfecta, type IV, Autosomal dominant	.	0	1510	12	0	0	12	0.00395778	0.0022	0.234	193768	Osteogenesis_imperfecta|Osteogenesis_imperfecta_type_I|not_specified|Ehlers-Danlos_syndrome,_arthrochalasia_type|Connective_tissue_disorder|Ehlers-Danlos/osteogenesis_imperfecta_syndrome|Cardiovascular_phenotype|Infantile_cortical_hyperostosis|not_provided|Ehlers-Danlos_syndrome|COL1A1-related_disorder	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,Orphanet:216796,Orphanet:666|MedGen:CN169374|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060,Orphanet:1899,Orphanet:99875,Orphanet:99876|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0016470,MedGen:C4518787,OMIM:PS619115,Orphanet:230857|MedGen:CN230736|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000,Orphanet:1310|MedGen:C3661900|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.00219649	0.0033	0.0011	0.0021	0.0003	0.0033	0.0049	0.0054	0.0008	0.0030918	478	154602	rs66592376	0.0040	0.0040	0.0041	0.0040	0.0048	0.0039	0.0039	0.0047	0.0046	0.0009	0.0024	7.669e-05	5.041e-05	0.0022	0.0035	0.0048	0.0038	0.0005	0.0029	0.0029	0.0031	0.0026	0.0050	0.0026	0.0025	0.0045	0.0044	0.0009	0	0.0022	0	0	0.0014	0.0034	0.0050	0.0028	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1307.98	51	chr17	50192029	.	G	T	1307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.848;DP=1191;ExcessHet=0.0000;FS=4.493;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.03;ReadPosRankSum=0.926;SOR=1.237	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1322,0,1146	20	0	1	0
chr17	59064408	59064408	A	-	intronic	TRIM37	.	.	.	Mulibrey nanism, Autosomal recessive	.	3	160	18	1	44	64	0.0588235	.	.	329188	not_specified|not_provided|Mulibrey_nanism_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2284	.	0.3120	0.2552	0.3418	0.3266	0.2628	0.3084	0.3263	0.3404	0.0001921	5	26028	rs367700401	0.0985	0.1854	0.0961	0.1009	0.1579	0.0979	0.0977	0.1538	0.1521	0.0942	0.1579	0.1212	0.1240	0.1151	0.0828	0.0923	0.1014	0.1258	0.0021	0.0042	0.0020	0.0023	0.0026	0.0019	0.0018	0.0022	0.0021	0.0008	0	0.0013	0.0006	0.0006	0.0087	0.0035	0.0026	0.0021	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3870.64	34	chr17	59064407	.	TA	T,TAA	3870.64	.	AC=6,4;AF=0.143,0.095;AN=42;BaseQRankSum=-1.690e-01;DP=1885;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3262;MLEAC=6,4;MLEAF=0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=3.66;ReadPosRankSum=-1.250e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/1:89,13,0:102:61:61,0,2196,328,2236,2564	11	0	6	0
chr17	61483613	61483613	-	GTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	345241	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,6,0,0,0,0,0:12:99:.:.:215,0,230,234,248,482,234,248,482,482,234,248,482,482,482,234,248,482,482,482,482,234,248,482,482,482,482,482	2	1	3	0
chr17	61483613	61483613	-	GTGTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	346649	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004204	65	154602	rs149977669	0.0376	0.0398	0.0379	0.0373	0.0493	0.0372	0.0370	0.0464	0.0453	0.0493	0.0324	0.0746	0.0068	0.0466	0.0411	0.0397	0.0465	0.0165	0.0777	0.0806	0.0796	0.0757	0.0931	0.0765	0.0760	0.0911	0.0903	0.0654	0.1030	0.0654	0.1510	0.0092	0.0656	0.0846	0.0931	0.0777	0.0204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,6,0,0,0,0,0:12:99:.:.:215,0,230,234,248,482,234,248,482,482,234,248,482,482,482,234,248,482,482,482,482,234,248,482,482,482,482,482	2	1	3	0
chr17	61483613	61483613	-	GTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	339436	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014243	2202	154602	rs149977669	0.0596	0.0681	0.0566	0.0623	0.0909	0.0591	0.0589	0.0887	0.0879	0.0854	0.0509	0.0943	0.0511	0.0502	0.0660	0.0547	0.0693	0.0909	0.1012	0.1026	0.1036	0.0984	0.1398	0.0997	0.0992	0.1302	0.1264	0.1162	0.0689	0.0887	0.1141	0.0554	0.0666	0.0846	0.1010	0.1055	0.1398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,6,0,0,0,0,0:12:99:.:.:215,0,230,234,248,482,234,248,482,482,234,248,482,482,482,234,248,482,482,482,482,234,248,482,482,482,482,482	2	1	3	0
chr17	75516562	75516562	-	GGAGCC	exonic	TSEN54	.	nonframeshift insertion	TSEN54:NM_207346:exon1:c.2_3insGGAGCC:p.P7_A8insEP,	Pontocerebellar hypoplasia type 2A, Autosomal recessive;Pontocerebellar hypoplasia type 4, Autosomal recessive	.	263	1137	84	38	0	160	0.0657354	.	.	102567	not_specified|not_provided|Pontoneocerebellar_hypoplasia|Pontocerebellar_hypoplasia_type_4	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523|MONDO:MONDO:0009166,MedGen:C1856974,OMIM:225753,Orphanet:166063	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0591054	0	.	.	.	.	.	.	.	0.0006531	17	26028	rs1329838192	0.0647	0.0463	0.0650	0.0644	0.0998	0.0643	0.0641	0.0895	0.0855	0.0861	0.0613	0.0536	0.0005	0.0648	0.0998	0.0651	0.0667	0.0784	0.0695	0.0693	0.0700	0.0690	0.0835	0.0684	0.0679	0.0801	0.0792	0.0824	0.0749	0.0635	0.0645	0.0008	0.0660	0.0753	0.0679	0.0689	0.0835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	520.05	5	chr17	75516562	.	T	TGGAGCC	520.05	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-2.012e+00;DP=210;ExcessHet=0.3476;FS=0.000;InbreedingCoeff=0.0018;MLEAC=3;MLEAF=0.075;MQ=60.00;MQRankSum=0.00;QD=17.33;ReadPosRankSum=-5.240e-01;SOR=0.960	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,8:13:99:0|1:75516562_T_TGGAGCC:314,0,186:75516562	17	0	3	1
chr17	80184196	80184196	G	A	exonic	CARD14	.	synonymous SNV	CARD14:NM_001257970:exon4:c.G633A:p.E211E	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	0	505	725	292	0	1309	0.564467	.	.	390302	not_provided|Psoriasis_2|Pityriasis_rubra_pilaris|not_specified	MedGen:C3661900|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3867	0.347045	0.4547	0.4591	0.4132	0.3050	0.5434	0.4586	0.4259	0.4751	0.27294	42197	154602	rs4889990	0.3755	0.3729	0.3740	0.3771	0.4346	0.3747	0.3743	0.4308	0.4292	0.4143	0.2620	0.3677	0.2342	0.3867	0.4186	0.3783	0.3740	0.4346	0.3784	0.3786	0.3796	0.3771	0.4262	0.3758	0.3747	0.4112	0.4091	0.4164	0.3315	0.3063	0.3686	0.2088	0.3755	0.4150	0.3826	0.3685	0.4262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.3095	31734.13	152	chr17	80184196	.	G	A	31734.13	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.398;DP=2527;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2255;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=-3.840e-01;SOR=0.729	GT:AD:DP:GQ:PL	0/1:97,96:193:99:2666,0,2597	9	1	11	0
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	6	48	368	1100	0	2568	0.963964	.	.	1182690	not_provided|not_specified|Psoriasis_2|Pityriasis_rubra_pilaris	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	58196.26	104	chr17	80184264	.	G	A	58196.26	.	AC=33;AF=0.786;AN=42;BaseQRankSum=0.515;DP=2582;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=33;MLEAF=0.786;MQ=60.00;MQRankSum=0.00;QD=23.56;ReadPosRankSum=0.827;SOR=0.756	GT:AD:DP:GQ:PL	0/1:55,65:120:99:1864,0,1367	0	12	9	0
chr18	46610932	46610932	C	T	intronic	LOXHD1	.	.	.	Deafness, autosomal recessive 77, Autosomal recessive	.	.	.	.	.	.	.	.	0.0020	0.136	347088	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_77	MedGen:C3661900|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.621e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs748870133	2.646e-05	2.531e-05	1.693e-05	3.625e-05	0.0004	1.952e-05	1.705e-05	6.173e-05	2.551e-05	0	0	7.962e-05	0	0	0.0004	2.689e-05	5.173e-05	1.266e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	984.98	34	chr18	46610932	.	C	T	984.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.798e+00;DP=764;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-4.100e-02;SOR=0.892	GT:AD:DP:GQ:PL	0/1:33,37:70:99:999,0,907	20	0	1	0
chr18	57706561	57706561	C	T	exonic	ATP8B1	.	nonsynonymous SNV	ATP8B1:NM_001374385:exon3:c.G208A:p.D70N	Cholestasis, benign recurrent intrahepatic, Autosomal recessive;Cholestasis, intrahepatic, of pregnancy, 1, Autosomal dominant;Cholestasis, progressive familial intrahepatic 1, Autosomal recessive	.	41	1460	19	2	0	23	0.00781515	.	.	22310	not_specified|Benign_recurrent_intrahepatic_cholestasis_type_1|Cholestasis,_intrahepatic,_of_pregnancy,_1|not_provided|Progressive_familial_intrahepatic_cholestasis_type_2|Progressive_familial_intrahepatic_cholestasis_type_1	MedGen:CN169374|MONDO:MONDO:0009469,MedGen:C4551899,OMIM:243300,Orphanet:65682,Orphanet:99960|MONDO:MONDO:0007829,MedGen:C3549845,OMIM:147480,Orphanet:69665|MedGen:C3661900|MONDO:MONDO:0011156,MedGen:C3489789,OMIM:601847,Orphanet:79304|MONDO:MONDO:0008892,MedGen:C4551898,OMIM:211600,Orphanet:79306	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	1.0	D	0.926	D	0.000	N	0.999	D	0.845	L	0.05	T	-0.749	T	0.205	T	0.14	2.866	15.55	5.07	1.534	5.036	14.789	0.225	0.0767283979416	0.0024	0.00179712	0.0032	0.0010	0.0013	0.0001	0	0.0048	0.0057	0.0024	0.003247	502	154602	rs34719006	0.0036	0.0036	0.0035	0.0036	0.0222	0.0035	0.0035	0.0191	0.0179	0.0014	0.0020	0.0095	5.039e-05	0.0004	0.0222	0.0038	0.0044	0.0022	0.0030	0.0030	0.0029	0.0031	0.0043	0.0028	0.0027	0.0039	0.0037	0.0013	0	0.0039	0.0058	0	9.438e-05	0.0306	0.0043	0.0090	0.0017	0.255	0.16848	T	0.285	0.21343	T	1.0	0.90584	D	0.926	0.66095	D	0.000018	0.62929	N	0.150519	0.999207	0.46326	A	0.935	0.23595	L	0.05	0.61923	T	-2.38	0.52451	N	0.393	0.43417	-0.7488	0.57998	T	0.205	0.56293	T	10	0.009497732	0.00214	T	0.076728	0.72601	D	0.225	0.52323	.	.	0.79086341652	0.78891	0.597476656237495	0.59678	.	.	0.542955636978	0.44864	T	0.181016	0.53254	T	-0.449202	0.01142	T	-0.417208	0.31395	T	0.0355616597197093	0.02904	T	0.89721	0.64041	D	0.093981616	0.22086	0.08575032	0.19820	0.088583745	0.20668	0.10292975	0.24683	-5.33	0.40239	T	.	.	0.105	0.19114	B	.;.	.;.	4.425896	0.68596	25.3	0.99671671621269042	0.78652	0.91551	0.53766	D	AEFGBCI	0.670385	0.63749	D	0.158388486482392	0.49210	3.123942	0.175577965598586	0.48512	3.066187	0.999998103517215	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.94	5.07	0.68106	5.179000	0.64881	4.859000	0.45451	-0.204000	0.08590	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.9304:0.0:0.0696	14.789	0.69449	982	0.03397	P-type ATPase, N-terminal;P-type ATPase, N-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2144.11	34	chr18	57706561	.	C	T	2144.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.81;DP=829;ExcessHet=0.1072;FS=5.938;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-1.973e+00;SOR=1.174	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1194,0,828	19	0	2	0
chr18	70006461	70006461	C	T	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon46:c.G3709A:p.A1237T	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	.	9	1497	15	1	0	17	0.00564596	.	.	135641	not_provided|not_specified|RTTN-related_disorder|Microcephalic_primordial_dwarfism_due_to_RTTN_deficiency	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0018764,MedGen:C3553831,OMIM:614833,Orphanet:468631	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.67	T	0.001	B	0.003	B	0.096	N	1.000	D	0.895	L	0.8	T	-1.086	T	0.047	T	0.246	0.793	8.179	1.11	0.231	-0.538	4.895	0.059	0.00659585078721	0.0058	0.00299521	0.0057	0.0004	0.0028	0	0.0083	0.0086	0.0078	0.0014	0.0057244	885	154602	rs34989098	0.0062	0.0062	0.0061	0.0063	0.0070	0.0061	0.0061	0.0069	0.0068	0.0007	0.0047	0.0044	2.521e-05	0.0097	0.0043	0.0070	0.0053	0.0011	0.0061	0.0061	0.0063	0.0059	0.0092	0.0058	0.0056	0.0085	0.0082	0.0009	0	0.0092	0.0052	0.0002	0.0084	0	0.0091	0.0080	0.0015	0.641	0.04987	T	0.886	0.03170	T	0.001	0.07471	B	0.003	0.08700	B	0.095964	0.20098	N	0.491376	1	0.81001	D	1.725	0.44537	L	0.8	0.48769	T	0.05	0.06369	N	0.095	0.07535	-1.0860	0.06227	T	0.047	0.20275	T	10	0.00667727	0.00151	T	0.006596	0.17386	T	0.059	0.16972	.	.	0.0954503805726	0.09146	0.0430729865101976	0.04252	0.0678493212606	0.07595	0.267887085676	0.05867	T	0.021934	0.17000	T	-0.516657	0.00460	T	-0.505523	0.21776	T	0.00433808880377373	0.00046	T	0.692631	0.31245	T	0.033694975	0.03639	0.048189342	0.07105	0.035504002	0.04190	0.048189342	0.07105	-3.471	0.17915	T	0.11479793417717615	0.10198	0.077	0.06433	B	.;.;.	.;.;.	0.961669	0.13381	9.888	0.8686741465769553	0.16827	0.03624	0.08865	N	AEFGBI	0.038494	0.05455	N	-0.879440298585642	0.11333	0.5463388	-0.829270200645972	0.13787	0.717094	0.898267252993684	0.26022	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.1	1.11	0.19640	-0.376000	0.07522	-0.669000	0.07943	0.549000	0.26987	0.225000	0.24590	0.000000	0.08366	0.782000	0.36987	0.2547:0.4962:0.0:0.2492	4.895	0.13103	977	0.04225	.;.;.	.	.	.	.	.	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	1	0	0.02381	677.98	34	chr18	70006461	.	C	T	677.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.510e-01;DP=763;ExcessHet=0.0000;FS=6.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.80;ReadPosRankSum=-3.080e-01;SOR=1.472	GT:AD:DP:GQ:PL	0/1:47,30:77:99:692,0,1236	20	0	1	0
chr19	1615797	1615797	G	A	exonic	TCF3	.	nonsynonymous SNV	TCF3:NM_001136139:exon17:c.C1475T:p.A492V	Agammaglobulinemia 8, autosomal dominant, Autosomal dominant	YES	424	1017	76	5	0	86	0.040566	.	.	1158419	not_provided|Myeloproliferative_neoplasm,_unclassifiable	MedGen:C3661900|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.012	B	0.004	B	0.282	N	1.000	P	0.205	N	2.57	T	-0.910	T	0.000	T	0.555	1.318	10.32	1.92	0.320	0.804	5.487	0.173	.	0.0135	0.113618	0.0527	0.0252	0.0739	0.4020	0.0054	0.0082	0.04	0.0749	0.0483176	7470	154602	rs2074888	0.0230	0.0230	0.0221	0.0239	0.3966	0.0227	0.0227	0.3913	0.3892	0.0235	0.0760	0.0511	0.3966	0.0043	0.0279	0.0039	0.0361	0.0648	0.0345	0.0348	0.0303	0.0389	0.3894	0.0337	0.0334	0.3752	0.3694	0.0238	0	0.0810	0.0533	0.3894	0.0049	0.0272	0.0051	0.0369	0.0765	0.44	0.10659	T	0.276	0.39190	T	0.001	0.07471	B	0.001	0.06944	B	0.281944	0.14929	N	0.591667	1	0.08975	P	-2.085	0.00160	N	2.56	0.40749	T	-1.2	0.30555	N	0.083	0.06190	-0.9096	0.46904	T	0.000	0.00011	T	9	0.0016615391	0.00020	T	.	.	.	0.173	0.43840	.	.	.	.	0.3109613881401042	0.31009	0.035526471803	0.03747	0.54049038887	0.44515	T	0.277887	0.65052	T	-0.558536	0.00259	T	-0.431255	0.29793	T	0.00765290591918217	0.00089	T	0.641436	0.65058	T	0.0162262	0.00184	0.024486009	0.00470	0.019261442	0.00454	0.024486009	0.00469	-5.05	0.38367	T	0.14157535223328033	0.15939	0.081	0.10883	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.446592	0.18669	13.86	0.97106520507920091	0.32392	0.09364	0.15135	N	AEFBI	0.076060	0.15291	N	-1.06210975500062	0.07351	0.3412343	-1.06223047391086	0.08454	0.4157341	0.00354975633031919	0.10169	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.1	1.92	0.24912	1.131000	0.31019	4.413000	0.43288	0.491000	0.22372	0.002000	0.15269	0.962000	0.29361	0.006000	0.07323	0.1771:0.1634:0.6595:0.0	5.487	0.16049	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.02381	1632.98	35	chr19	1615797	.	G	A	1632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.400e-02;DP=795;ExcessHet=0.0000;FS=1.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=0.212;SOR=0.924	GT:AD:DP:GQ:PL	0/1:47,65:112:99:1647,0,1113	20	0	1	0
chr19	33301849	33301851	GGC	-	exonic	CEBPA	.	nonframeshift deletion	CEBPA:NM_001285829:exon1:c.207_209del:p.P70del	Leukemia, acute myeloid, somatic	.	26	1477	19	0	0	19	0.00639085	.	.	647908	CEBPA-related_disorder|Hereditary_cancer-predisposing_syndrome|Acute_myeloid_leukemia|Inborn_genetic_diseases|not_provided	.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0460	.	0.0275	0.0526	0.125	0	.	0.0311	0	0.0260	0.0001153	3	26028	rs781757114	0.0020	0.0126	0.0018	0.0023	0.0085	0.0020	0.0019	0.0078	0.0075	0.0015	0.0085	0.0042	0.0020	0.0052	0.0036	0.0015	0.0028	0.0085	2.702e-05	0.0001	1.316e-05	4.161e-05	4.879e-05	8.31e-06	5.26e-06	8.09e-06	3.03e-06	4.879e-05	0	0	0.0003	0	0	0	1.506e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	57.94	33	chr19	33301848	.	GGGC	G	57.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.448e+00;DP=586;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.61;ReadPosRankSum=-3.780e-01;SOR=0.399	GT:AD:DP:GQ:PL	0/1:32,4:36:72:72,0,1331	20	0	1	0
chr19	49705090	49705090	C	T	exonic	CPT1C	.	synonymous SNV	CPT1C:NM_001378484:exon8:c.C855T:p.R285R	.	.	426	1091	5	0	0	5	0.00228624	.	.	438120	not_provided|Hereditary_spastic_paraplegia_73	MedGen:C3661900|MONDO:MONDO:0014568,MedGen:C5568981,OMIM:616282,Orphanet:444099	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0	0.0003	0	0	0.0004	0.0011	0	0.0002005	31	154602	rs140099471	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0002	0.0001	0	0.0002	0.0053	0	3.745e-05	0.0007	4.946e-05	0.0005	8.115e-05	0.0002	0.0002	0.0003	0.0001	8.822e-05	0.0001	0.0001	3.763e-05	2.575e-05	0	0	0	0.0060	0	0	0	8.822e-05	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	1501.98	34	chr19	49705090	.	C	T	1501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.963e+00;DP=838;ExcessHet=0.0000;FS=0.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-3.430e-01;SOR=0.833	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1516,0,1702	20	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	Spermatogenic_Failure|not_provided	MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	15157.31	51	chr19	57231146	.	G	GC	15157.31	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.507;DP=1282;ExcessHet=3.4384;FS=0.000;InbreedingCoeff=-0.1455;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=15.29;ReadPosRankSum=0.460;SOR=0.668	GT:AD:DP:GQ:PL	0/1:25,25:50:99:663,0,666	5	4	12	0
chr20	3234173	3234173	T	G	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	YES	0	589	691	242	0	1175	0.499363	.	.	257346	Corneal_dystrophy|Corneal_dystrophy-perceptive_deafness_syndrome|Congenital_hereditary_endothelial_dystrophy_of_cornea|not_specified|not_provided	Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603|MedGen:CN169374|MedGen:C3661900	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	1	1	0.3333	35431.43	188	chr20	3234173	.	T	G	35431.43	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.203e+00;DP=2845;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-5.900e-02;SOR=0.710	GT:AD:DP:GQ:PL	1/1:0,243:243:99:7058,728,0	9	2	10	0
chr20	62318945	62318945	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon52:c.C6940T:p.R2314W,	.	.	412	1100	10	0	0	10	0.00452489	.	.	2128698	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.06	B	0.013	B	0.061	N	1.000	N	1.1	L	2.78	T	-1.005	T	0.013	T	0.182	0.602	7.243	0.458	-0.183	2.070	4.828	0.036	0.0371110188731	0.0003	0.000599042	0.0005	0	0.0007	0	0.0005	0.0007	0	0.0004	0.0003169	49	154602	rs201303962	0.0004	0.0004	0.0003	0.0004	0.0056	0.0003	0.0003	0.0041	0.0035	0.0001	0.0004	0	0	4.16e-05	0.0056	0.0004	0.0006	0.0003	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	2.407e-05	0	0.0001	0	0	0.0002	0.0034	0.0005	0.0005	0.0006	0.173	0.22573	T	0.052	0.47581	T	0.06	0.23119	B	0.013	0.16460	B	0.061045	0.22202	N	0.452057	0.999999	0.08975	N	1.08	0.27187	L	2.78	0.11298	T	-3.64	0.69835	D	0.29	0.32812	-1.0054	0.28337	T	0.013	0.05081	T	10	0.030061334	0.01132	T	0.037111	0.57411	D	0.036	0.09122	.	.	0.206203607746	0.20212	0.324488234620309	0.32361	.	.	0.470058590174	0.34688	T	0.113339	0.43031	T	-0.522781	0.00424	T	-0.606747	0.12250	T	0.0632181531677816	0.07666	T	0.682432	0.29103	T	0.10287255	0.24311	0.07624333	0.16869	0.10287255	0.24310	0.07624333	0.16868	-6.894	0.53255	T	.	.	0.102	0.17827	B	.	.	3.188377	0.43307	21.7	0.92787345666927878	0.22306	0.26152	0.22910	N	AEFDGBCI	0.208027	0.33415	N	-0.997228787310727	0.08663	0.407031	-1.04039814860417	0.08908	0.4403721	0.670159914126991	0.22366	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.25	0.458	0.15882	2.739000	0.47083	0.897000	0.22519	0.653000	0.53440	0.937000	0.32526	0.000000	0.08366	0.002000	0.04165	0.2242:0.0:0.6165:0.1593	4.828	0.12789	774	0.48577	Laminin alpha, domain I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3205.66	33	chr20	62318945	.	G	A	3205.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.99;DP=815;ExcessHet=0.0000;FS=0.732;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=22.90;ReadPosRankSum=-3.580e-01;SOR=0.562	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1979,177,0	19	1	1	0
chr22	18918451	18918451	C	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon11:c.G968A:p.R323H	.	YES	1	1322	185	14	0	213	0.0745537	.	.	19050	Schizophrenia_4|Proline_dehydrogenase_deficiency	MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.996	D	0.87	P	0.000	N	0.999	D	2.34	M	1.31	T	-1.182	T	0.006	T	0.184	3.914	19.91	1.16	0.474	1.178	8.739	0.145	.	0.0816	0.0429313	0.0794	0.0387	0.0503	0.0009	0.0537	0.1113	0.0870	0.0471	0.0744363	11508	154602	rs2904552	0.1027	0.1011	0.1062	0.0995	0.1480	0.1014	0.1009	0.1458	0.1449	0.0328	0.0685	0.1381	0.0006	0.0682	0.1018	0.1480	0.1109	0.0519	0.0509	0.0963	0.0519	0.0496	0.0957	0.0460	0.0441	0.0841	0.0797	0.0216	0.5000	0.0466	0.0789	0	0.0414	0.0370	0.0957	0.0625	0.0271	0.004	0.65419	D	0.032	0.53426	D	0.945	0.53279	P	0.408	0.44733	B	0.000345	0.45440	N	0.229694	0.999478	0.47197	A	.	.	.	1.31	0.35405	T	-3.25	0.66206	D	0.158	0.20129	-1.1817	0.00345	T	0.006	0.01981	T	10	0.0036971867	0.00068	T	.	.	.	0.145	0.38592	.	.	.	.	0.6217227933177322	0.62105	0.435677157202	0.43665	0.409796655178	0.26428	T	0.083212	0.37003	T	-0.547933	0.00300	T	-0.463128	0.26258	T	0.0329422262464058	0.02462	T	0.885311	0.61048	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.06525	B	.;.;.;.	.;.;.;.	2.691791	0.35142	19.82	0.99849403335407028	0.92925	0.80218	0.39914	D	AEFDGBI	0.380323	0.46301	N	0.0207175707020348	0.42797	2.585497	-0.030060004355919	0.38363	2.259183	0.940988181924042	0.27456	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.49	1.16	0.19936	1.447000	0.34712	0.795000	0.21604	-0.775000	0.03392	1.000000	0.71638	0.999000	0.35428	0.015000	0.10482	0.0:0.7169:0.0:0.2831	8.739	0.33706	923	0.18507	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain	.	.	.	.	rs2904552	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	1	1	0	0	0	0	0	0	1	0	0	0	0.1429	8091.03	33	chr22	18918451	.	C	T	8091.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.180;DP=1233;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=57.11;MQRankSum=-4.149e+00;QD=13.11;ReadPosRankSum=0.895;SOR=0.691	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1172,0,1409	15	0	6	0
chr22	43928847	43928847	C	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon3:c.C444G:p.I148M,	.	.	418	622	397	85	0	567	0.313087	.	.	352627	NAFLD1|Hepatic_steatosis|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.03	D	0.994	D	0.944	D	0.016	N	0.000	P	3.265	M	-1.41	T	-1.028	T	0.000	T	0.209	1.841	12.12	-1.97	-0.125	-0.914	6.383	0.339	.	0.1953	0.262181	0.2632	0.1376	0.5723	0.3785	0.2262	0.2293	0.2687	0.2174	0.255825	39551	154602	rs738409	0.2325	0.2339	0.2333	0.2317	0.5358	0.2319	0.2316	0.5301	0.5278	0.1320	0.5358	0.2180	0.4180	0.2272	0.2696	0.2179	0.2294	0.2237	0.2281	0.2285	0.2230	0.2335	0.4235	0.2261	0.2253	0.4148	0.4113	0.1395	0.2720	0.4235	0.2111	0.3866	0.2201	0.2483	0.2262	0.2624	0.2372	0.054	0.38633	T	0.003	0.76473	D	0.994	0.66517	D	0.944	0.68059	D	0.016391	0.27990	N	0.316000	0.000289165	0.48481	P	3.045	0.86684	M	-1.41	0.80560	T	-2.57	0.55501	D	0.173	0.18512	-1.0285	0.20940	T	0.000	0.00011	T	9	0.0025928915	0.00039	T	.	.	.	0.339	0.66106	.	.	.	.	0.6869485544173306	0.68634	0.503164557005	0.48655	0.487125337124	0.37040	T	0.29702	0.66963	T	-0.485539	0.00687	T	-0.326399	0.41867	T	0.0306719473680774	0.02094	T	0.692831	0.33234	T	0.40859076	0.61323	0.35764056	0.61255	0.40859076	0.61324	0.35764056	0.61254	-9.124	0.68491	D	.	.	0.329	0.55166	B	.;.	.;.	1.374372	0.17849	13.40	0.99302197316743868	0.58686	0.52933	0.29250	D	AEFBCI	0.108930	0.21653	N	-0.255780834863084	0.30874	1.725634	-0.533311740709871	0.21251	1.14871	0.99975902258671	0.42595	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.7	-1.97	0.07091	-1.142000	0.03314	-1.110000	0.06300	-0.176000	0.10722	0.009000	0.18154	0.001000	0.17328	0.035000	0.13729	0.0:0.4064:0.2195:0.3741	6.383	0.20749	855	0.34697	Patatin-like phospholipase domain|Patatin-like phospholipase domain;.	SAMM50|SAMM50|SAMM50|PNPLA3|PNPLA3	Adipose_Subcutaneous|Breast_Mammary_Tissue|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	SAMM50|SAMM50|SAMM50|PNPLA3|SAMM50	Artery_Tibial|Colon_Sigmoid|Prostate|Skin_Sun_Exposed_Lower_leg|Testis	rs738409	Uncertain significance	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.3571	34134.34	43	chr22	43928847	.	C	G	34134.34	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.62;DP=2033;ExcessHet=3.1640;FS=0.521;InbreedingCoeff=-0.1407;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=20.50;ReadPosRankSum=0.110;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,67:137:99:0|1:43928847_C_G:2588,0,2717:43928847	8	2	11	0
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E,	.	.	425	173	454	470	0	1394	0.801149	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	0.000	N	1.000	P	0	N	1.36	T	-0.993	T	0.000	T	0.017	-1.344	0.030	-5.47	-1.617	-2.202	1.474	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.6905	60939.29	38	chr22	43946236	.	A	G	60939.29	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.056e+00;DP=2777;ExcessHet=0.0158;FS=0.717;InbreedingCoeff=0.4430;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=24.07;ReadPosRankSum=0.942;SOR=0.789	GT:AD:DP:GQ:PL	1/1:0,142:142:99:4431,425,0	4	12	5	0
chrX	49256855	49256855	G	A	exonic	FOXP3	.	synonymous SNV	FOXP3:NM_001114377:exon5:c.C438T:p.S146S	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive	YES	0	1411	80	31	0	142	0.0479082	0.0363	0.636	134557	not_specified|not_provided|Insulin-dependent_diabetes_mellitus_secretory_diarrhea_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010580,MedGen:C0342288,OMIM:304790,Orphanet:37042	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0297	0.0148344	0.0313	0.0056	0.0093	0.0002	0.0431	0.0460	0.0462	0.0184	0.0298379	4613	154602	rs2232367	0.0346	0.0346	0.0347	0.0343	0.0486	0.0343	0.0342	0.0431	0.0410	0.0041	0.0151	0.0751	6.622e-05	0.0522	0.0486	0.0370	0.0331	0.0165	0.0294	0.0297	0.0296	0.0290	0.0408	0.0286	0.0282	0.0393	0.0388	0.0056	0.0176	0.0300	0.0826	0.0003	0.0540	0.0505	0.0408	0.0313	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8131.49	119	chrX	49256855	.	G	A	8131.49	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-6.120e-01;DP=937;ExcessHet=0.0000;FS=3.326;InbreedingCoeff=0.8286;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=24.20;ReadPosRankSum=1.57;SOR=0.541	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2473,246,0	17	3	1	0