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	NSWES956-M	WT	HH	HZ	NC
chr1	2228982	2228982	C	T	exonic	SKI	.	synonymous SNV	SKI:NM_003036:exon1:c.C216T:p.P72P,	Shprintzen-Goldberg syndrome, Autosomal dominant	.	0	1491	30	1	0	32	0.0106171	.	.	190413	Shprintzen-Goldberg_syndrome|not_specified|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided	MONDO:MONDO:0008426,MedGen:C1321551,OMIM:182212,Orphanet:2462|MedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0	0	0	0	0.0027	0	0.0004	0.0004592	71	154602	rs756778048	0.0014	0.0013	0.0014	0.0013	0.0036	0.0013	0.0013	0.0022	0.0018	0.0003	0.0004	0	0	5.852e-05	0.0036	0.0016	0.0009	0.0003	0.0008	0.0008	0.0008	0.0007	0.0015	0.0007	0.0006	0.0012	0.0012	0.0003	0	0.0003	0	0	0	0	0.0015	0.0005	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	1	1	0.02381	1158.98	33	chr1	2228982	.	C	T	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.359;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.45;ReadPosRankSum=-7.630e-01;SOR=0.618	GT:AD:DP:GQ:PL	0/1:30,45:75:99:1173,0,732	20	0	1	0
chr1	37708312	37708314	TTC	-	intronic	CDCA8	.	.	.	.	.	430	656	353	83	0	519	0.283452	.	.	1310279	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2158	0.364217	0.2783	0.2577	0.4416	0.7111	0.2264	0.1916	0.2695	0.3211	0.0001537	4	26028	rs145033890	0.2126	0.2132	0.2108	0.2144	0.6712	0.2120	0.2117	0.6645	0.6617	0.2510	0.4088	0.2738	0.6712	0.2205	0.2368	0.1761	0.2370	0.3125	0.2412	0.2420	0.2349	0.2479	0.6862	0.2391	0.2383	0.6673	0.6596	0.2534	0.1154	0.3139	0.2784	0.6862	0.2248	0.2021	0.1800	0.2481	0.3272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	34786.27	34	chr1	37708311	.	TTTC	T	34786.27	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-1.170e-01;DP=2206;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=19.29;ReadPosRankSum=0.285;SOR=0.689	GT:AD:DP:GQ:PL	0/1:105,76:181:99:2837,0,4112	10	0	11	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	1/1:0,165:165:99:5017,495,0	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	0/1:30,25:55:99:933,0,1177	7	2	12	0
chr1	97883329	97883329	A	G	exonic	DPYD	.	nonsynonymous SNV	DPYD:NM_000110:exon2:c.T85C:p.C29R	Dihydropyrimidine dehydrogenase deficiency, Autosomal recessive;5-fluorouracil toxicity, Autosomal recessive	.	20	895	480	127	0	734	0.290808	.	.	15474	not_specified|not_provided|fluorouracil_response_-_Toxicity|capecitabine_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency	MedGen:CN169374|MedGen:C3661900|.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:1675	reviewed_by_expert_panel	drug_response	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062677	969	154602	rs1801265	0.2213	0.2213	0.2203	0.2223	0.4125	0.2207	0.2204	0.4068	0.4044	0.4125	0.2142	0.1152	0.0516	0.2878	0.2345	0.2186	0.2229	0.2528	0.2736	0.2738	0.2743	0.2728	0.4040	0.2714	0.2704	0.3989	0.3968	0.4040	0.2204	0.2476	0.1107	0.0719	0.2823	0.2211	0.2254	0.2540	0.2470	.	.	.	0.427	0.13832	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.19325	.	.	.	.	.	.	.	0.0027006269	0.00042	T	.	.	.	.	.	.	.	.	.	0.6104852986908456	0.60980	.	.	.	.	.	0.058699	0.30914	T	.	.	.	.	.	.	.	.	.	0.0231377	0.00135	T	.	.	.	.	.	.	.	.	-5.598	0.42774	T	0.05041581781460596	0.00872	0.043	0.00109	B	.;.	.;.	2.033307	0.25845	16.91	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.647000	0.36876	2.715000	0.34266	-0.103000	0.15852	0.321000	0.25511	0.371000	0.24568	0.770000	0.36519	.	.	.	928	0.17405	.;.	DPYD|DPYD	Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0.2381	8750.78	67	chr1	97883329	.	A	G	8750.78	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.184;DP=1031;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-7.200e-02;SOR=0.687	GT:AD:DP:GQ:PL	0/1:25,37:62:99:816,0,509	13	2	6	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	0/1:20,12,4,0,0:36:99:187,0,424,197,337,701,276,447,675,756,276,447,675,756,756	0	0	10	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	0/1:23,9,0,0:32:99:.:.:142,0,529,211,556,767,211,556,767,767	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	0/1:23,9,0,0:32:99:.:.:142,0,529,211,556,767,211,556,767,767	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	0/1:23,9,0,0:32:99:.:.:142,0,529,211,556,767,211,556,767,767	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	1/1:0,110:110:99:3349,330,0	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	1/1:0,260:260:99:.:.:8341,780,0	13	1	7	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	YES	467	200	364	491	0	1346	0.770905	1.0000	0.918	249563	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified|not_provided	MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	1.765	11.86	5.26	2.598	4.200	14.730	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	32697.54	93	chr1	179889309	.	G	A	32697.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=0.720;DP=1629;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=21.37;ReadPosRankSum=0.266;SOR=0.619	GT:AD:DP:GQ:PL	1/1:1,79:80:99:2315,230,0	2	11	8	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	1/1:0,170:170:99:5310,509,0	2	8	11	0
chr1	196743447	196743447	T	C	intronic	CFH	.	.	.	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	.	2	810	709	1	0	711	0.305019	0	0.028	865078	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_specified|Basal_laminar_drusen|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|not_provided	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:CN169374|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN071292|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2585	0.2335	0.3236	0.3530	0.2551	0.2478	0.2636	0.2241	0.0001035	16	154602	rs513699	0.0899	0.2501	0.0919	0.0878	0.1935	0.0893	0.0891	0.1884	0.1864	0.0730	0.1344	0.0955	0.1935	0.1086	0.0549	0.0875	0.0860	0.0598	0.0293	0.1436	0.0285	0.0300	0.0485	0.0284	0.0280	0.0448	0.0434	0.0296	0.0038	0.0485	0.0263	0.0478	0.0280	0.0084	0.0251	0.0321	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	17455.3	34	chr1	196743447	.	T	C	17455.3	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.46;DP=3012;ExcessHet=7.7275;FS=8.647;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=57.29;MQRankSum=-1.539e+01;QD=6.59;ReadPosRankSum=-2.514e+00;SOR=1.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,38:247:99:0|1:196743447_T_C:946,0,8605:196743447	10	0	11	0
chr1	197084166	197084166	A	G	UTR3	ASPM	NM_001206846:c.*158T>C;NM_018136:c.*158T>C	.	.	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	.	207	1273	35	7	0	49	0.0188825	.	.	206731	Microcephaly_5,_primary,_autosomal_recessive|not_specified|not_provided	MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	.	.	.	.	.	.	.	.	0.0116029	302	26028	rs41265225	0.0113	0.0110	0.0113	0.0114	0.0158	0.0111	0.0110	0.0137	0.0135	0.0018	0.0117	0.0129	3.214e-05	0.0017	0.0158	0.0140	0.0125	0.0101	0.0084	0.0084	0.0089	0.0079	0.0133	0.0080	0.0079	0.0126	0.0123	0.0020	0.0230	0.0096	0.0101	0	0.0010	0.0102	0.0133	0.0137	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	509.13	13	chr1	197084166	.	A	G	509.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.27;DP=290;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0507;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=20.37;ReadPosRankSum=1.34;SOR=1.136	GT:AD:DP:GQ:PL	0/1:6,6:12:99:224,0,195	19	0	2	0
chr1	211481277	211481277	G	A	exonic	RD3	.	nonsynonymous SNV	RD3:NM_001164688:exon2:c.C139T:p.R47C	Leber congenital amaurosis 12, Autosomal recessive	YES	0	1465	53	4	0	61	0.0203945	.	.	177189	not_specified|Leber_congenital_amaurosis_12|not_provided	MedGen:CN169374|MONDO:MONDO:0012525,MedGen:C1857743,OMIM:610612,Orphanet:65|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.966	D	0.000	D	0.999	D	2.28	M	2.31	T	-1.017	T	0.080	T	0.282	3.775	19.17	3.8	2.395	2.422	13.302	0.134	.	0.0101	0.00419329	0.0096	0.0014	0.0059	0	0.0033	0.0129	0.0088	0.0117	0.0097929	1514	154602	rs34049451	0.0123	0.0123	0.0121	0.0126	0.0272	0.0122	0.0121	0.0237	0.0224	0.0026	0.0075	0.0191	5.038e-05	0.0040	0.0272	0.0136	0.0098	0.0119	0.0087	0.0087	0.0088	0.0085	0.0127	0.0083	0.0081	0.0120	0.0117	0.0023	0.0318	0.0078	0.0233	0.0002	0.0037	0.0646	0.0127	0.0132	0.0095	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	0.966	0.71341	D	0.000023	0.55875	D	0.144576	0.998881	0.45620	D	2.585	0.75554	M	2.31	0.16794	T	-4.57	0.78721	D	0.833	0.82862	-1.0171	0.24657	T	0.080	0.31675	T	10	0.006775528	0.00154	T	.	.	.	0.134	0.36365	.	.	0.225215365344	0.22153	0.5305109387044922	0.52975	1.3308989677	0.83649	0.501416265965	0.39025	T	0.249645	0.61963	T	-0.497036	0.00594	T	-0.475058	0.24973	T	0.026252053313044	0.01440	T	0.955304	0.82980	D	0.32331398	0.54918	0.3081052	0.56830	0.32331398	0.54918	0.3081052	0.56829	-4.829	0.34928	T	0.6686997803134949	0.74333	0.209	0.43626	B	.	.	5.291863	0.88853	29.8	0.99925219383102581	0.99042	0.86889	0.46272	D	AEFDBI	0.578233	0.57952	D	0.59794033676446	0.73047	5.902531	0.535870290780608	0.70422	5.502666	0.0383644840197535	0.14344	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.85	3.8	0.42887	2.503000	0.45067	8.187000	0.76786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:0.7348:0.2652	13.302	0.59768	744	0.52588	.	.	.	.	.	.	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	1	0	0.04762	2167.11	34	chr1	211481277	.	G	A	2167.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.860e-01;DP=825;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=2.03;SOR=0.686	GT:AD:DP:GQ:PL	0/1:38,53:91:99:1395,0,1056	19	0	2	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	1/1:0,98:98:99:3284,294,0	0	21	0	0
chr1	228159235	228159235	G	A	UTR3	GJC2	NM_020435:c.*157G>A	.	.	Leukodystrophy, hypomyelinating, 2, Autosomal recessive;Lymphedema, hereditary, IC, Autosomal dominant;Spastic paraplegia 44, autosomal recessive, Autosomal recessive	.	189	1288	32	13	0	58	0.0220197	.	.	1254937	Hereditary_spastic_paraplegia|not_provided	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0233626	.	.	.	.	.	.	.	.	0.0113259	1751	154602	rs45491398	0.0778	0.0829	0.0798	0.0760	0.0940	0.0773	0.0771	0.0932	0.0929	0.0144	0.0316	0.0658	9.45e-05	0.0784	0.0186	0.0940	0.0622	0.0292	0.0576	0.0576	0.0595	0.0556	0.0906	0.0566	0.0562	0.0887	0.0880	0.0160	0.0625	0.0406	0.0579	0.0008	0.0794	0.0170	0.0906	0.0496	0.0224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	323.43	7	chr1	228159235	.	G	A	323.43	.	AC=2;AF=0.050;AN=40;BaseQRankSum=1.98;DP=159;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0828;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.876;SOR=0.593	GT:AD:DP:GQ:PL	0/1:2,4:6:62:152,0,62	18	0	2	1
chr1	235686945	235686945	C	A	intronic	LYST	.	.	.	Chediak-Higashi syndrome, Autosomal recessive	.	0	1509	13	0	0	13	0.00428901	0.0095	0.082	279900	Autoinflammatory_syndrome|not_specified|Chédiak-Higashi_syndrome|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.00279553	0.0063	0.0014	0.0202	0.0001	0.0015	0.0065	0.0110	0.0039	0.0061189	946	154602	rs41308172	0.0067	0.0067	0.0067	0.0066	0.0167	0.0066	0.0065	0.0157	0.0153	0.0010	0.0167	0.0019	7.563e-05	0.0009	0.0029	0.0073	0.0058	0.0046	0.0045	0.0045	0.0048	0.0041	0.0068	0.0042	0.0041	0.0063	0.0061	0.0015	0	0.0068	0.0020	0	0.0008	0.0034	0.0068	0.0071	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1550.98	33	chr1	235686945	.	C	A	1550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=811;ExcessHet=0.0000;FS=0.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.21;ReadPosRankSum=0.891;SOR=0.593	GT:AD:DP:GQ:PL	0/1:58,69:127:99:1565,0,1236	20	0	1	0
chr1	237833281	237833281	-	A	UTR3	RYR2	NM_001035:c.*634_*635insA	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	1408	66	5	15	28	63	0.209581	.	.	280387	not_provided|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	2/2:0,0,8:8:24:211,212,212,24,24,0	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	0/1:4,18,0,0,0,0,0:22:53:423,0,53,435,107,542,435,107,542,542,435,107,542,542,542,435,107,542,542,542,542,435,107,542,542,542,542,542	0	0	1	1
chr2	21015495	21015495	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon22:c.G3383A:p.R1128H,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	0	1506	15	1	0	17	0.00561241	.	.	265379	Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|not_specified|APOB-related_disorder|Familial_hypercholesterolemia|not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|Primary_familial_dilated_cardiomyopathy	MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN169374|.|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.399	B	0.045	B	0.000	N	1.000	D	2.125	M	5.65	T	-0.767	T	0.003	T	0.717	3.691	18.75	3.52	1.432	0.128	9.926	0.184	0.0257199592383	0.0032	0.00279553	0.0037	0.0008	0.0032	0.0001	0.0018	0.0041	0	0.0070	0.0037063	573	154602	rs12713843	0.0046	0.0046	0.0046	0.0046	0.0068	0.0045	0.0045	0.0056	0.0055	0.0009	0.0037	0.0001	2.519e-05	0.0023	0.0068	0.0050	0.0050	0.0061	0.0038	0.0038	0.0041	0.0034	0.0079	0.0035	0.0034	0.0059	0.0052	0.0007	0	0.0044	0	0.0004	0.0021	0	0.0059	0.0057	0.0079	0.096	0.31088	T	0.002	0.79402	D	.	.	.	.	.	.	0.000295	0.46274	N	0.096408	0.533726	0.31996	D	.	.	.	5.65	0.00784	T	-1.68	0.40082	N	0.372	0.41360	-0.7674	0.57000	T	0.003	0.01026	T	10	0.007625997	0.00173	T	0.02572	0.48675	D	0.184	0.45763	.	.	0.530852358449	0.52733	0.5349439724085757	0.53419	0.0427700385688	0.04614	0.22615134716	0.01696	T	.	.	.	-0.397544	0.02403	T	-0.337282	0.40654	T	0.0214380577430334	0.00847	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04806	B	.	.	2.995653	0.40013	21.1	0.99908515955343014	0.97875	0.75412	0.36921	D	AEFBHCI	0.230590	0.35395	N	-0.0202030940790056	0.40942	2.440185	0.0445583706668865	0.41809	2.518083	0.991941940083341	0.32664	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	3.52	0.39415	0.144000	0.15956	-0.390000	0.09482	0.599000	0.40250	0.797000	0.29682	0.000000	0.08366	0.999000	0.91618	0.136:0.7906:0.0:0.0735	9.926	0.40661	863	0.32847	.	.	.	.	.	.	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	2026.98	34	chr2	21015495	.	C	T	2026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=851;ExcessHet=0.0000;FS=2.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.88;ReadPosRankSum=2.13;SOR=0.528	GT:AD:DP:GQ:PL	0/1:71,75:146:99:2041,0,1787	20	0	1	0
chr2	21022941	21022941	G	A	exonic	APOB	.	synonymous SNV	APOB:NM_000384:exon18:c.C2706T:p.N902N,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	0	1449	71	2	0	75	0.025227	.	.	250531	Cardiovascular_phenotype|Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypercholesterolemia|not_specified|Hypercholesterolemia,_familial,_1	MedGen:CN230736|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0356	0.0161741	0.0344	0.0089	0.0163	0.0001	0.0625	0.0454	0.0485	0.0249	0.0350578	5420	154602	rs1801700	0.0465	0.0465	0.0470	0.0461	0.0527	0.0462	0.0461	0.0523	0.0522	0.0075	0.0193	0.0272	0.0001	0.0593	0.0215	0.0527	0.0364	0.0250	0.0354	0.0354	0.0349	0.0358	0.0525	0.0346	0.0343	0.0511	0.0505	0.0080	0.1132	0.0263	0.0245	0.0002	0.0681	0.0034	0.0525	0.0260	0.0232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3740.11	34	chr2	21022941	.	G	A	3740.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.720e-01;DP=987;ExcessHet=0.1072;FS=2.352;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.23;ReadPosRankSum=-1.690e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:82,79:161:99:1917,0,2041	19	0	2	0
chr2	21044060	21044060	G	C	UTR5	APOB	NM_000384:c.-115C>G	.	.	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	348	1160	9	5	0	19	0.00812313	.	.	260652	Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_type_B|Hypercholesterolemia,_familial,_1	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171725	.	.	.	.	.	.	.	.	0.0020698	320	154602	rs1800480	0.0099	0.0088	0.0105	0.0093	0.0392	0.0096	0.0094	0.0351	0.0335	0.0392	0.0065	0.0004	0.0002	0.0046	0.0109	0.0105	0.0129	0.0091	0.0177	0.0177	0.0190	0.0164	0.0364	0.0172	0.0169	0.0348	0.0342	0.0364	0	0.0141	0	0.0004	0.0027	0.0034	0.0125	0.0165	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	871.11	24	chr2	21044060	.	G	C	871.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.26;DP=621;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=2.20;SOR=0.596	GT:AD:DP:GQ:PL	0/1:8,15:23:99:391,0,161	19	0	2	0
chr2	27377947	27377947	G	A	exonic	ZNF513	.	synonymous SNV	ZNF513:NM_001201459:exon3:c.C1038T:p.R346R	.	.	0	1473	49	0	0	49	0.0163606	.	.	884599	Retinitis_pigmentosa|not_provided	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0129	0.00459265	0.0111	0.0025	0.0077	0	0.0050	0.0167	0.0121	0.0042	0.0110089	1702	154602	rs61995753	0.0134	0.0134	0.0133	0.0135	0.0366	0.0132	0.0132	0.0325	0.0310	0.0029	0.0092	0.0277	2.519e-05	0.0049	0.0366	0.0149	0.0147	0.0046	0.0104	0.0104	0.0114	0.0094	0.0154	0.0100	0.0098	0.0146	0.0143	0.0026	0	0.0136	0.0283	0	0.0052	0.0578	0.0154	0.0180	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.02381	4779.98	35	chr2	27377947	.	G	A	4779.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.046e+00;DP=1069;ExcessHet=0.0000;FS=0.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=2.17;SOR=0.733	GT:AD:DP:GQ:PL	0/1:168,190:358:99:4794,0,4222	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	1/1:0,102:102:99:3348,306,0	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	0/2:20,4,20:48:99:375,234,810,0,299,308	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	0/1:17,18,2,2:39:99:382,0,354,371,407,969,438,345,805,966	1	5	12	0
chr2	98396286	98396286	C	T	exonic	CNGA3	.	synonymous SNV	CNGA3:NM_001079878:exon7:c.C1062T:p.P354P	Achromatopsia 2, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	733648	Achromatopsia_2|not_provided|CNGA3-related_disorder	MONDO:MONDO:0009003,MedGen:C1857618,OMIM:216900,Orphanet:49382|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	0.0002	9.808e-05	0.0003	0	0	0.0003	0	6.111e-05	0.000207	32	154602	rs201649850	0.0003	0.0003	0.0003	0.0003	0.0036	0.0003	0.0002	0.0024	0.0021	0.0002	0.0008	0.0002	0	1.874e-05	0.0036	0.0003	0.0004	3.481e-05	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0008	0.0006	0.0001	0	0.0012	0.0003	0	0	0	0.0003	0.0005	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	1601.98	35	chr2	98396286	.	C	T	1601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.93;DP=848;ExcessHet=0.0000;FS=0.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-8.600e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:78,61:139:99:1616,0,1786	20	0	1	0
chr2	113062899	113062899	T	C	UTR3	IL36RN	NM_173170:c.*222T>C;NM_012275:c.*222T>C	.	.	Psoriasis 14, pustular, Autosomal recessive	.	910	207	66	339	0	744	0.642487	.	.	283604	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.108433	16764	154602	rs2515401	0.6460	0.6350	0.6359	0.6549	0.7967	0.6440	0.6431	0.7899	0.7872	0.7121	0.6981	0.6741	0.7292	0.6065	0.7411	0.6034	0.6506	0.7967	0.6525	0.6525	0.6494	0.6557	0.8018	0.6490	0.6476	0.7807	0.7721	0.7072	0.7566	0.6635	0.6876	0.7070	0.6292	0.7381	0.6008	0.6886	0.8018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1934.59	4	chr2	113062899	.	T	C	1934.59	.	AC=26;AF=0.722;AN=36;BaseQRankSum=-6.740e-01;DP=101;ExcessHet=0.0192;FS=2.320;InbreedingCoeff=0.2694;MLEAC=28;MLEAF=0.778;MQ=60.00;MQRankSum=0.00;QD=33.36;ReadPosRankSum=0.00;SOR=0.205	GT:AD:DP:GQ:PL	1/1:0,3:3:9:121,9,0	3	11	4	3
chr2	113062953	113062953	A	G	UTR3	IL36RN	NM_173170:c.*276A>G;NM_012275:c.*276A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	.	1089	122	46	265	0	576	0.702439	.	.	283793	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.64154	16698	26028	rs1800930	0.6402	0.5794	0.6263	0.6522	0.7949	0.6378	0.6368	0.7880	0.7851	0.7003	0.6800	0.6607	0.7105	0.5871	0.7339	0.5921	0.6385	0.7949	0.6528	0.6527	0.6496	0.6560	0.8014	0.6494	0.6480	0.7803	0.7717	0.7079	0.7577	0.6634	0.6885	0.7078	0.6301	0.7381	0.6008	0.6883	0.8014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7727	904.29	3	chr2	113062953	.	A	G	904.29	.	AC=17;AF=0.773;AN=22;BaseQRankSum=-9.670e-01;DP=70;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3944;MLEAC=24;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=26.02;ReadPosRankSum=0.00;SOR=0.495	GT:AD:DP:GQ:PL	1/1:0,2:2:6:83,6,0	2	8	1	10
chr2	113133033	113133033	C	T	UTR3	IL1RN	NM_000577:c.*162C>T;NM_001318914:c.*162C>T;NM_173843:c.*162C>T;NM_173841:c.*162C>T;NM_001379360:c.*162C>T;NM_173842:c.*162C>T	.	.	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	.	103	1312	92	15	0	122	0.0444283	.	.	283664	Autoinflammatory_syndrome|Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01877	.	.	.	.	.	.	.	.	0.0056209	869	154602	rs4252041	0.0351	0.0448	0.0341	0.0359	0.0658	0.0346	0.0345	0.0575	0.0543	0.0081	0.0224	0.0245	0	0.0193	0.0658	0.0430	0.0364	0.0361	0.0269	0.0269	0.0284	0.0252	0.0413	0.0262	0.0259	0.0400	0.0395	0.0076	0.0011	0.0337	0.0253	0.0006	0.0115	0.0850	0.0413	0.0303	0.0304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	321.72	6	chr2	113133033	.	C	T	321.72	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.28;DP=198;ExcessHet=0.0082;FS=0.000;InbreedingCoeff=0.3699;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=26.81;ReadPosRankSum=0.842;SOR=1.329	GT:AD:DP:GQ:PL	0/1:1,2:3:31:74,0,31	18	1	2	0
chr2	135132926	135132926	C	G	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon14:c.C1268G:p.P423R	Warburg micro syndrome 1, Autosomal recessive	.	24	1490	8	0	0	8	0.00267738	.	.	365536	Warburg_micro_syndrome_1|not_provided	MONDO:MONDO:0010822,MedGen:C1838625,OMIM:600118,Orphanet:2510|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.58	T	0.468	P	0.1	B	0.228	N	1.000	N	1.245	L	0.92	T	-1.056	T	0.068	T	0.249	1.067	9.358	3.29	0.547	2.054	8.432	0.029	0.0127237545272	.	0.000399361	0.0006	9.773e-05	0.0003	0	0	0.0002	0	0.0036	0.0005757	89	154602	rs143010678	0.0003	0.0003	0.0002	0.0005	0.0032	0.0003	0.0003	0.0028	0.0027	3.057e-05	2.239e-05	0	2.539e-05	1.878e-05	0.0032	0.0002	0.0003	0.0031	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0014	0.0011	2.409e-05	0	0.0003	0	0	0	0	0.0002	0	0.0025	0.012	0.54683	D	0.042	0.50226	D	0.468	0.36503	P	0.1	0.30674	B	0.227915	0.15987	N	0.664924	1	0.08975	N	1.735	0.44892	L	0.92	0.44856	T	-1.47	0.37178	N	0.28	0.31702	-1.0559	0.12803	T	0.068	0.27811	T	10	0.0061053634	0.00137	T	0.012724	0.31538	T	0.029	0.06676	.	.	0.367229591828	0.36328	0.2104353704282954	0.20959	0.259043582992	0.28458	0.308571577072	0.11691	T	0.130254	0.45904	T	-0.473822	0.00805	T	-0.456754	0.26952	T	0.00674449374715561	0.00076	T	0.79692	0.44048	T	0.060936794	0.12560	0.06708236	0.13829	0.05159249	0.09495	0.073271774	0.15904	-3.547	0.17338	T	0.2089085635546057	0.27954	0.097	0.16800	B	.;.;.	.;.;.	1.356155	0.17643	13.29	0.98034752028762584	0.37743	0.34280	0.25030	N	AEFBI	0.076307	0.15347	N	-0.622205003327226	0.18278	0.9476791	-0.6040986123179	0.19388	1.039947	0.340299420414568	0.19576	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.08	3.29	0.36801	2.123000	0.41620	-0.355000	0.09716	0.549000	0.26987	0.195000	0.24249	0.000000	0.08366	0.974000	0.55675	0.0:0.6999:0.0:0.3001	8.432	0.31927	842	0.36989	.;.;.	.	.	.	.	.	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	1049.98	37	chr2	135132926	.	C	G	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.720e-01;DP=776;ExcessHet=0.0000;FS=0.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=0.191;SOR=0.578	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1064,0,1015	20	0	1	0
chr2	135787999	135787999	C	G	UTR3	LCT	NM_002299:c.*325G>C	.	.	Lactase deficiency, congenital, Autosomal recessive	.	863	649	7	3	0	13	0.00991609	.	.	282503	Lactose_intolerance|Congenital_lactase_deficiency	Human_Phenotype_Ontology:HP:0004789,MONDO:MONDO:0100345,MedGen:C0022951|MONDO:MONDO:0009115,MedGen:C0268179,OMIM:223000,Orphanet:53690	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0167732	.	.	.	.	.	.	.	.	0.0028137	435	154602	rs62170085	0.0172	0.0121	0.0154	0.0188	0.0344	0.0168	0.0166	0.0312	0.0299	0.0032	0.0344	0.0389	0.0031	0.0197	0.0339	0.0131	0.0177	0.0305	0.0135	0.0135	0.0123	0.0147	0.0312	0.0130	0.0128	0.0271	0.0255	0.0033	0	0.0282	0.0392	0.0021	0.0213	0.0170	0.0136	0.0142	0.0312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	412.97	12	chr2	135787999	.	C	G	412.97	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-9.770e-01;DP=249;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1063;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=-4.050e-01;SOR=1.030	GT:AD:DP:GQ:PL	0/1:4,5:9:99:117,0,135	17	0	4	0
chr2	171448665	171448665	-	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	.	295	1061	129	35	2	201	0.0857389	.	.	1153880	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1900	0.1440	0.2965	0.1542	0.1838	0.1738	0.1942	0.2313	0.0121408	316	26028	rs139655160	0.1523	0.1653	0.1512	0.1534	0.2241	0.1517	0.1515	0.2196	0.2178	0.1225	0.2241	0.1819	0.1751	0.1501	0.1619	0.1464	0.1560	0.1975	0.1961	0.1983	0.1956	0.1968	0.2795	0.1943	0.1935	0.2670	0.2620	0.1627	0.1681	0.2502	0.2551	0.1836	0.2003	0.2363	0.1955	0.2145	0.2795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8128.42	49	chr2	171448665	.	C	CT	8128.42	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.490;DP=809;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2857;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=-2.670e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,16:45:99:.:.:601,0,1039	8	1	12	0
chr2	171448667	171448667	C	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	.	305	1005	21	3	188	215	0.0132548	.	.	189063	not_provided|Woodhouse-Sakati_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207069	0.2822	0.2104	0.4319	0.2364	0.2448	0.2580	0.2773	0.3437	0.0139778	2161	154602	rs192861143	0.2297	0.1974	0.2282	0.2312	0.3467	0.2289	0.2286	0.3409	0.3385	0.1856	0.3467	0.2716	0.2622	0.2223	0.2208	0.2204	0.2344	0.2999	0.2054	0.2045	0.2034	0.2075	0.2886	0.2034	0.2026	0.2757	0.2706	0.1695	0.1726	0.2733	0.2593	0.1987	0.2244	0.2396	0.2008	0.2248	0.2886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	9299.46	49	chr2	171448667	.	C	T	9299.46	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.544;DP=842;ExcessHet=6.1794;FS=1.204;InbreedingCoeff=-0.2857;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=18.31;ReadPosRankSum=0.040;SOR=0.580	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,18:45:99:.:.:651,0,1039	8	1	12	0
chr2	171458135	171458135	T	-	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	.	50	730	457	105	180	847	0.313587	.	.	1258517	not_provided|not_specified|Woodhouse-Sakati_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227835	.	.	.	.	.	.	.	.	0.0401491	1045	26028	rs58636477	0.2283	0.2354	0.2253	0.2312	0.3807	0.2275	0.2272	0.3754	0.3733	0.2227	0.3807	0.2915	0.2775	0.2308	0.2404	0.2103	0.2387	0.3067	0.2115	0.2106	0.2096	0.2136	0.2856	0.2096	0.2088	0.2729	0.2678	0.1932	0.1718	0.2748	0.2573	0.1950	0.2276	0.2413	0.1998	0.2246	0.2856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	10184.04	71	chr2	171458134	.	AT	ATT,A	10184.04	.	AC=4,14;AF=0.095,0.333;AN=42;BaseQRankSum=0.154;DP=1314;ExcessHet=8.7631;FS=0.633;InbreedingCoeff=-0.3611;MLEAC=4,14;MLEAF=0.095,0.333;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.111;SOR=0.809	GT:AD:DP:GQ:PL	0/2:29,0,27:56:99:595,682,1402,0,720,638	5	0	3	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	0/1:73,20:104:99:244,0,1611	7	0	14	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	0/1:14,6,0,0:20:99:138,0,435,180,453,632,180,453,632,632	1	0	14	0
chr2	178732511	178732511	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon53:c.C12818T:p.S4273L	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	1521	0	1	0	2	0.00065703	.	.	392316	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.998	D	0.874	P	.	.	1.000	D	2.875	M	-0.39	T	0.095	D	0.533	D	0.369	1.723	11.72	6.17	2.941	9.869	20.879	0.430	0.0330585741683	.	.	6.655e-05	0.0001	0.0003	0.0002	0	0	0	6.069e-05	5.17e-05	8	154602	rs769165258	1.642e-05	1.642e-05	1.77e-05	1.513e-05	0.0002	1.111e-05	9.34e-06	0.0001	7.819e-05	2.988e-05	0.0002	0	0.0002	0	0	3.598e-06	0	3.479e-05	4.602e-05	4.597e-05	2.57e-05	6.731e-05	0.0002	2.11e-05	1.527e-05	4.739e-05	3.053e-05	0.0001	0	6.55e-05	0	0.0002	0	0	0	0	0	0.159	0.23813	T	.	.	.	0.998	0.73220	D	0.874	0.62049	P	.	.	.	.	0.976277	0.81001	D	.	.	.	-0.39	0.69158	T	-3.22	0.64939	D	0.359	0.40565	0.095	0.84090	D	0.533	0.82689	D	9	0.3810508	0.54196	T	0.033059	0.54712	D	0.430	0.73662	0.51	0.60693	0.776151870229	0.77409	.	.	0.376731259237	0.39108	0.502177119255	0.39132	T	.	.	.	-0.182633	0.23345	T	-0.215402	0.53178	T	0.128156312359073	0.15210	T	0.854814	0.66442	D	.	.	.	.	.	.	.	.	-7.468	0.59581	T	.	.	0.164	0.36234	B	.;.;.;.	.;.;.;.	4.441298	0.68956	25.3	0.96016307211924579	0.28459	0.99411	0.95685	D	AEFBI	0.941890	0.94575	D	0.965836579863478	0.94593	12.88057	0.938724775922663	0.97050	15.51586	0.999999997105737	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	6.17	6.17	0.99707	10.003000	0.99689	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	20.879	0.99870	341	0.85936	.;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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5528.08	82	chr2	178732511	.	G	A	5528.08	.	AC=2;AF=0.048;AN=42;DP=1138;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.71;SOR=0.715	GT:AD:DP:GQ:PL	1/1:0,180:180:99:5556,540,0	20	1	0	0
chr2	231216656	231216656	G	A	exonic	ARMC9	.	nonsynonymous SNV	ARMC9:NM_001271466:exon5:c.G367A:p.E123K	.	.	429	1092	1	0	0	1	0.000457666	.	.	850630	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.72	T	0.004	B	0.006	B	0.002	N	1.000	N	0.9	L	2.33	T	-1.016	T	0.062	T	0.327	1.895	12.29	3.65	0.644	3.930	7.846	0.058	0.00502367877329	0.0004	.	0.0007	0.0004	0.0003	0	0.0003	0.0011	0.0011	0	0.0006533	101	154602	rs201901213	0.0010	0.0010	0.0010	0.0010	0.0012	0.0010	0.0010	0.0012	0.0011	0.0006	0.0002	0.0021	0	0.0002	0.0002	0.0012	0.0010	0	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0010	0.0009	0.0005	0	0.0003	0.0014	0	9.42e-05	0.0068	0.0012	0.0009	0	0.511	0.07473	T	0.388	0.17064	T	0.004	0.12183	B	0.006	0.12133	B	0.001726	0.38161	N	0.309345	0.999958	0.19072	N	1.39	0.34934	L	2.33	0.42122	T	-1.15	0.29525	N	0.105	0.17828	-1.0159	0.25045	T	0.062	0.25887	T	10	0.009439439	0.00213	T	0.005024	0.12690	T	0.058	0.16647	.	.	0.393316636838	0.38940	0.3083734940306559	0.30750	0.245369413854	0.27068	0.43195939064	0.29476	T	0.087709	0.38001	T	-0.462839	0.00944	T	-0.444877	0.28263	T	0.00849006759933505	0.00103	T	0.853215	0.54193	D	0.034452178	0.03867	0.08344278	0.19121	0.034452178	0.03867	0.08344278	0.19121	-5.988	0.46179	T	.	.	0.061	0.01909	B	.;.;.;.	.;.;.;.	2.535931	0.32792	19.15	0.98513653019398717	0.42374	0.92374	0.55564	D	AEFBI	0.315956	0.42038	N	-0.513095414127223	0.21655	1.15089	-0.391366815540338	0.25253	1.387659	0.804831696283892	0.24251	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.5	3.65	0.40985	4.026000	0.56942	3.090000	0.36275	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.969000	0.54022	0.1452:0.135:0.7198:0.0	7.846	0.28586	946	0.12043	.;.;.;.	.	.	.	.	.	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	1406.98	33	chr2	231216656	.	G	A	1406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.270e-01;DP=822;ExcessHet=0.0000;FS=1.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-2.300e-02;SOR=0.540	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1421,0,1361	20	0	1	0
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29369.66	106	chr2	233681881	.	T	G	29369.66	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.495e+00;DP=2097;ExcessHet=5.3459;FS=0.570;InbreedingCoeff=-0.2381;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=0.162;SOR=0.757	GT:AD:DP:GQ:PL	0/1:41,49:90:99:1174,0,1070	4	4	13	0
chr2	233760233	233760233	-	AT	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	27314	Irinotecan_response|not_provided|not_specified|Lucey-Driscoll_syndrome|Crigler-Najjar_syndrome_type_1|Gilbert_syndrome|Crigler-Najjar_syndrome,_type_II|Bilirubin,_serum_level_of,_quantitative_trait_locus_1	MedGen:CN077989|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C1866173,OMIM:601816	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|drug_response|other	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32528	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs34983651	0.3008	0.3073	0.2983	0.3034	0.3582	0.3001	0.2997	0.3546	0.3532	0.3449	0.2826	0.3392	0.1204	0.3429	0.3139	0.2993	0.3013	0.3582	0.3460	0.3472	0.3436	0.3485	0.4077	0.3435	0.3425	0.3928	0.3907	0.3979	0.4218	0.3198	0.3809	0.1263	0.4167	0.3231	0.3199	0.3187	0.4077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	5490.5	20	chr2	233760233	.	C	CAT	5490.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-8.570e-01;DP=432;ExcessHet=1.5101;FS=24.371;InbreedingCoeff=-0.0101;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=21.45;ReadPosRankSum=0.00;SOR=0.091	GT:AD:DP:GQ:PL	0/1:4,2:6:57:57,0,133	8	3	10	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	0/1:52,61:113:99:1715,0,1451	18	0	3	0
chr3	49123880	49123880	C	T	exonic	LAMB2	.	synonymous SNV	LAMB2:NM_002292:exon24:c.G3645A:p.A1215A,	Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	519411	Pierson_syndrome|Focal_segmental_glomerulosclerosis|LAMB2-related_infantile-onset_nephrotic_syndrome|not_provided	MONDO:MONDO:0012184,MedGen:C1836876,OMIM:609049,Orphanet:2670|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Orphanet:306507|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.000399361	0.0015	0.0009	0.0009	0	0.0029	0.0019	0	0.0008	0.0015071	233	154602	rs13082063	0.0020	0.0020	0.0020	0.0020	0.0022	0.0019	0.0019	0.0021	0.0021	0.0004	0.0019	0.0032	0	0.0027	0.0009	0.0022	0.0018	0.0008	0.0014	0.0014	0.0015	0.0012	0.0021	0.0012	0.0011	0.0018	0.0017	0.0004	0	0.0010	0.0026	0	0.0015	0	0.0021	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1793.98	35	chr3	49123880	.	C	T	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=935;ExcessHet=0.0000;FS=0.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-9.800e-01;SOR=0.751	GT:AD:DP:GQ:PL	0/1:89,69:158:99:1808,0,2304	20	0	1	0
chr3	49510792	49510792	G	C	exonic	DAG1	.	nonsynonymous SNV	DAG1:NM_001177639:exon2:c.G258C:p.L86F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, Autosomal recessive	.	0	1497	25	0	0	25	0.00828089	.	.	192381	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A9|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2P|not_specified|not_provided|DAG1-related_disorder	MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538,Orphanet:370997,Orphanet:899|MONDO:MONDO:0013440,MedGen:C4511963,OMIM:613818,Orphanet:280333|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.001	B	0.001	B	0.010	N	0.792	D	0.41	N	0.46	T	0.320	D	0.728	D	0.297	2.067	12.87	4.3	0.897	1.228	5.342	0.225	0.0345599240663	0.0034	0.00119808	0.0029	0.0008	0.0011	0	0.0014	0.0045	0.0022	0.0012	0.0030853	477	154602	rs145403829	0.0047	0.0047	0.0048	0.0047	0.0080	0.0046	0.0046	0.0061	0.0055	0.0011	0.0021	0.0004	2.519e-05	0.0019	0.0080	0.0056	0.0048	0.0017	0.0031	0.0031	0.0033	0.0029	0.0051	0.0029	0.0028	0.0046	0.0045	0.0010	0.0011	0.0035	0.0003	0	0.0014	0.0068	0.0051	0.0038	0.0008	0.236	0.20381	T	0.148	0.92824	T	0.001	0.07471	B	0.001	0.04355	B	0.009542	0.30309	N	0.282211	0.79151	0.34393	D	1.01	0.25309	L	-4.99	0.98507	D	-0.56	0.37759	N	0.148	0.15187	0.320	0.87869	D	0.728	0.90705	D	10	0.0061346292	0.00226	T	0.03456	0.55756	D	0.225	0.52323	0.718	0.85319	0.598950722394	0.59575	0.5055072432473939	0.50472	0.297566637379	0.32142	0.339848846197	0.16416	T	0.355552	0.72254	T	-0.249766	0.14126	T	-0.127822	0.61155	T	0.00495819392435207	0.00053	T	0.732227	0.47282	T	0.037615046	0.04856	0.042526096	0.05086	0.037615046	0.04856	0.042526096	0.05086	-5.321	0.40150	T	0.12676215551597242	0.12860	0.127	0.29283	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.319415	0.17233	13.04	0.97940415029161143	0.37028	0.75762	0.37112	D	AEFBI	0.262267	0.38004	N	-0.531824808102353	0.21057	1.114735	-0.322680728659568	0.27368	1.518104	0.00105108255013359	0.08159	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	4.3	0.50540	1.018000	0.29604	2.259000	0.31747	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.7593:0.0:0.0858:0.1549	5.342	0.15295	1	0.99630	Dystroglycan-type cadherin-like;.;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;.;.;.;.	.	.	.	.	.	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	488.98	42	chr3	49510792	.	G	C	488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.866;DP=997;ExcessHet=0.0000;FS=5.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.89;ReadPosRankSum=0.677;SOR=1.599	GT:AD:DP:GQ:PL	0/1:41,21:62:99:503,0,1107	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	0/1:47,17:64:38:.:.:38,0,867	7	0	14	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	2/3:0,23,109,135,16:283:99:11141,7615,6898,3336,2730,2474,2830,1840,0,2038,7410,5568,2536,2533,6935	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	2/3:0,23,109,135,16:283:99:11141,7615,6898,3336,2730,2474,2830,1840,0,2038,7410,5568,2536,2533,6935	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	2/3:0,23,109,135,16:283:99:11141,7615,6898,3336,2730,2474,2830,1840,0,2038,7410,5568,2536,2533,6935	5	0	0	0
chr3	165023746	165023746	A	G	exonic	SI	.	nonsynonymous SNV	SI:NM_001041:exon26:c.T2923C:p.Y975H,	Sucrase-isomaltase deficiency, congenital, Autosomal recessive	.	1	1489	31	1	0	33	0.0109598	.	.	293673	Sucrase-isomaltase_deficiency|SI-related_disorder|not_provided	MONDO:MONDO:0009114,MedGen:C1283620,OMIM:222900,Orphanet:35122|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	0.999	D	2.63	M	-0.08	T	-0.076	T	0.381	T	0.498	3.511	17.94	5.23	2.324	4.266	15.247	0.506	.	0.0040	0.00319489	0.0040	0.0010	0.0039	0	0.0011	0.0058	0.0077	0.0020	0.0041267	638	154602	rs146785675	0.0050	0.0050	0.0049	0.0051	0.0153	0.0049	0.0048	0.0127	0.0118	0.0013	0.0062	0.0055	0	0.0011	0.0153	0.0056	0.0054	0.0018	0.0048	0.0048	0.0052	0.0044	0.0118	0.0045	0.0044	0.0104	0.0098	0.0014	0.0099	0.0118	0.0058	0	0.0013	0.0204	0.0063	0.0081	0.0012	0.014	0.53172	D	0.015	0.61642	D	1.0	0.90584	D	0.998	0.88582	D	0.000007	0.62929	D	0.066286	0.998642	0.45212	D	3.7	0.94612	H	-0.08	0.63911	T	-4.46	0.77798	D	0.644	0.65587	-0.0764	0.80633	T	0.381	0.73759	T	10	0.025785983	0.00762	T	.	.	.	0.506	0.78724	.	.	0.945111871398	0.94453	0.7485530980654919	0.74801	0.237281895606	0.26271	0.464577972889	0.33937	T	0.535424	0.83998	D	-0.295817	0.09060	T	-0.190306	0.55562	T	0.0514766366932002	0.05757	T	0.680832	0.28956	T	0.42258286	0.62263	0.36152923	0.61575	0.42258286	0.62264	0.36152923	0.61574	-8.426	0.63938	D	0.2563194530862008	0.34651	0.238	0.47206	B	.	.	4.046501	0.59952	24.2	0.9985915946282129	0.93820	0.98485	0.83276	D	AEFDI	0.614813	0.60199	D	0.660584470686298	0.77054	6.601703	0.581449699235702	0.73612	5.998803	0.384761113783112	0.19992	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	3.702000	0.54532	8.876000	0.78337	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	1.0:0.0:0.0:0.0	15.247	0.73205	852	0.35056	P-type trefoil domain|P-type trefoil domain|P-type trefoil domain|P-type trefoil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	647.98	34	chr3	165023746	.	A	G	647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.776e+00;DP=742;ExcessHet=0.0000;FS=4.250;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=0.486;SOR=0.284	GT:AD:DP:GQ:PL	0/1:25,27:52:99:662,0,739	20	0	1	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	0/1:31,30:61:99:835,0,738	10	2	9	0
chr3	170998041	170998041	G	A	exonic	SLC2A2	.	synonymous SNV	SLC2A2:NM_001278658:exon10:c.C1080T:p.F360F	Fanconi-Bickel syndrome, Autosomal recessive	.	2	712	648	160	0	968	0.404682	.	.	135795	not_specified|not_provided|Type_2_diabetes_mellitus|Fanconi-Bickel_syndrome	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3964	0.372604	0.3159	0.5942	0.2813	0.2418	0.2678	0.3020	0.3113	0.2840	0.310611	48021	154602	rs5398	0.2950	0.2951	0.2967	0.2933	0.6047	0.2943	0.2940	0.5978	0.5949	0.6047	0.2907	0.3167	0.2228	0.2633	0.3290	0.2893	0.3178	0.2786	0.3751	0.3754	0.3789	0.3713	0.5947	0.3726	0.3715	0.5885	0.5859	0.5947	0.2429	0.3398	0.3292	0.2307	0.2443	0.3151	0.2923	0.3645	0.2732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.3333	22157.43	130	chr3	170998041	.	G	A	22157.43	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.376e+00;DP=1743;ExcessHet=2.0984;FS=1.125;InbreedingCoeff=-0.0714;MLEAC=14;MLEAF=0.333;MQ=59.99;MQRankSum=0.00;QD=16.04;ReadPosRankSum=0.364;SOR=0.576	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3249,309,0	9	2	10	0
chr3	189995368	189995368	C	A	exonic	P3H2	.	nonsynonymous SNV	P3H2:NM_001134418:exon2:c.G12T:p.Q4H	Myopia, high, with cataract and vitreoretinal degeneration, Autosomal recessive	YES	1	1507	14	0	0	14	0.00462351	.	.	538358	not_provided|Myopia,_high,_with_cataract_and_vitreoretinal_degeneration	MedGen:C3661900|MONDO:MONDO:0013670,MedGen:C3280346,OMIM:614292	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.994	D	0.885	P	0.000	D	0.917	D	1.24	L	1.58	T	-0.856	T	0.102	T	0.343	3.531	18.02	2.39	0.843	-0.018	8.420	0.145	.	0.0002	0.00359425	0.0012	9.61e-05	0.0006	0	0	0.0006	0.0022	0.0061	0.0011902	184	154602	rs117688924	0.0009	0.0009	0.0007	0.0010	0.0062	0.0008	0.0008	0.0058	0.0056	0.0003	0.0006	0.0029	2.519e-05	0	0.0059	0.0004	0.0015	0.0062	0.0008	0.0008	0.0007	0.0009	0.0093	0.0007	0.0006	0.0072	0.0064	7.224e-05	0	0.0009	0.0020	0.0002	0	0.0068	0.0007	0.0019	0.0093	0.011	0.63226	D	0.029	0.58089	D	0.994	0.66517	D	0.885	0.62825	P	0.000254	0.46924	D	0.197028	0.916514	0.36554	D	1.775	0.45938	L	1.58	0.40218	T	-1.58	0.42001	N	0.415	0.45520	-0.8560	0.51548	T	0.102	0.37618	T	9	0.00795579	0.00181	T	.	.	.	0.145	0.38592	0.358	0.36060	0.324161360171	0.32030	0.532962182838961	0.53221	0.283057473856	0.30755	0.451816797256	0.32192	T	0.111784	0.42754	T	-0.464984	0.00914	T	-0.43822	0.29007	T	0.0554225582295242	0.06428	T	0.929107	0.73907	D	0.083130576	0.19182	0.10408253	0.24988	0.083130576	0.19182	0.10408253	0.24988	-8.052	0.61424	D	0.27357052326696946	0.36761	0.308	0.59274	B	.;.;.;.	.;.;.;.	3.415466	0.47403	22.5	0.99700674420012203	0.80591	0.66466	0.33088	D	ALL	0.169292	0.29612	N	0.213103086037382	0.51834	3.361646	0.18438217101127	0.48991	3.107842	0.999999996362235	0.74766	0.75658	0.98901	0	0.693117	0.66813	0	0.858454	0.99976	0	0.613276	0.41899	0	.	.	5.34	2.39	0.28492	-0.085000	0.11215	0.840000	0.22034	0.599000	0.40250	0.711000	0.28732	0.999000	0.35428	0.998000	0.85391	0.1356:0.7138:0.0:0.1505	8.420	0.31856	810	0.42761	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1293.98	33	chr3	189995368	.	C	A	1293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.211e+00;DP=824;ExcessHet=0.0000;FS=0.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-1.117e+00;SOR=0.734	GT:AD:DP:GQ:PL	0/1:57,56:113:99:1308,0,1396	20	0	1	0
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	.	0	306	693	523	0	1739	0.739685	.	.	54598	Wolfram_syndrome_1|WFS1-Related_Spectrum_Disorders|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_specified|not_provided	MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MedGen:CN239410|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5531	0.641573	0.6245	0.4646	0.7443	0.9358	0.5720	0.5907	0.6355	0.6352	0.616195	95265	154602	rs1801206	0.6051	0.6051	0.6041	0.6061	0.9578	0.6040	0.6036	0.9497	0.9464	0.4555	0.7260	0.6765	0.9578	0.5715	0.5902	0.5890	0.6193	0.6353	0.5756	0.5759	0.5734	0.5779	0.9332	0.5724	0.5711	0.9111	0.9021	0.4596	0.3890	0.6659	0.6603	0.9332	0.5667	0.6156	0.5925	0.6087	0.6444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.5952	97164.78	225	chr4	6300980	.	C	T	97164.78	.	AC=25;AF=0.595;AN=42;BaseQRankSum=-2.344e+00;DP=4951;ExcessHet=0.6491;FS=0.000;InbreedingCoeff=0.1106;MLEAC=25;MLEAF=0.595;MQ=60.00;MQRankSum=0.00;QD=22.36;ReadPosRankSum=0.497;SOR=0.715	GT:AD:DP:GQ:PL	1/1:0,290:290:99:9322,870,0	4	8	9	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	YES	10	265	679	568	0	1815	0.773987	.	.	54604	not_specified|Type_2_diabetes_mellitus|WFS1-Related_Spectrum_Disorders|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:CN239410|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6323	0.729433	0.6595	0.6736	0.7600	0.9441	0.5735	0.6010	0.6641	0.7013	0.648394	100243	154602	rs1801214	0.6232	0.6230	0.6215	0.6249	0.9621	0.6221	0.6216	0.9540	0.9506	0.6757	0.7449	0.6960	0.9621	0.5729	0.6281	0.5982	0.6483	0.6951	0.6443	0.6444	0.6428	0.6459	0.9402	0.6409	0.6395	0.9181	0.9091	0.6704	0.3904	0.7014	0.6817	0.9402	0.5669	0.6531	0.6019	0.6596	0.7030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.5952	70076.78	204	chr4	6301295	.	C	T	70076.78	.	AC=25;AF=0.595;AN=42;BaseQRankSum=2.07;DP=3793;ExcessHet=0.6491;FS=0.000;InbreedingCoeff=0.1106;MLEAC=25;MLEAF=0.595;MQ=60.00;MQRankSum=0.00;QD=21.54;ReadPosRankSum=0.392;SOR=0.690	GT:AD:DP:GQ:PL	1/1:1,201:202:99:6464,596,0	4	8	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	1/1:0,103:103:99:3272,309,0	5	7	9	0
chr4	54281602	54281602	C	T	exonic	PDGFRA	.	nonsynonymous SNV	PDGFRA:NM_001347827:exon17:c.C2345T:p.T782M,	Gastrointestinal stromal tumor, somatic;Hypereosinophilic syndrome, idiopathic, resistant to imatinib, Isolated cases, Somatic mutation	.	437	932	146	7	0	160	0.0790514	.	.	137113	Myeloproliferative_neoplasm,_unclassifiable|PDGFRA-related_disorder|Hereditary_cancer|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|.|MedGen:C1333600|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0658946	0.0581	0.1223	0.0372	0.0404	0	0.0991	0.0455	0.0350	0.0189195	2925	154602	rs2291591	0.0862	0.0737	0.0880	0.0844	0.1100	0.0858	0.0856	0.1023	0.0992	0.0850	0.0557	0.1131	0.0726	0.0761	0.1100	0.0913	0.0847	0.0329	0.0839	0.0840	0.0853	0.0824	0.0921	0.0827	0.0822	0.0902	0.0895	0.0830	0.0757	0.0721	0.1161	0.0599	0.0730	0.1497	0.0921	0.1022	0.0284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2808.68	33	chr4	54281602	.	C	T	2808.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.109;DP=926;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=9.62;ReadPosRankSum=-3.210e-01;SOR=0.697	GT:AD:DP:GQ:PL	0/1:52,36:88:99:726,0,1158	18	0	3	0
chr4	78374165	78374165	A	C	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon25:c.A3065C:p.K1022T	Fraser syndrome, Autosomal recessive	.	1	1511	9	1	0	11	0.00362677	.	.	691609	FRAS1-related_disorder|Inborn_genetic_diseases|Fraser_syndrome_1|not_provided	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.005	B	0.016	B	0.000	D	1.000	D	0.18	N	-1.04	T	-0.730	T	0.261	T	0.29	2.009	12.68	5.94	2.275	6.413	16.069	0.302	0.0174386683802	0.0002	0.000998403	0.0009	0	0.0008	0	0	0.0005	0.0022	0.0038	0.0007827	121	154602	rs201252328	0.0005	0.0005	0.0004	0.0007	0.0042	0.0005	0.0005	0.0038	0.0037	5.986e-05	0.0005	0.0008	0	1.882e-05	0.0028	0.0003	0.0005	0.0042	0.0004	0.0004	0.0004	0.0004	0.0035	0.0003	0.0003	0.0022	0.0018	2.406e-05	0	0.0005	0.0020	0	0	0.0068	0.0004	0	0.0035	0.183	0.21718	T	0.02	0.58613	D	.	.	.	.	.	.	0.000009	0.62929	D	0.112241	0.995851	0.23183	N	0.545	0.13751	N	-1.04	0.76561	T	-1.5	0.36586	N	0.211	0.23506	-0.7302	0.58953	T	0.261	0.63219	T	10	0.006578952	0.00149	T	0.017439	0.39139	T	0.302	0.62290	.	.	0.648203075438	0.64528	0.3444606550941687	0.34360	.	.	0.391649365425	0.23902	T	.	.	.	-0.350747	0.04680	T	-0.279336	0.46872	T	0.040619998903745	0.03803	T	0.324568	0.07588	T	.	.	.	.	.	.	.	.	-3.732	0.19791	T	.	.	0.124	0.26700	B	.;.	.;.	3.120494	0.42125	21.5	0.98598656484140901	0.43480	0.98705	0.85807	D	AEFBI	0.659654	0.63049	D	-0.185918385445342	0.33719	1.916303	0.010065567058872	0.40182	2.393944	0.99999999714086	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.94	5.94	0.96165	6.582000	0.73941	8.080000	0.76477	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.144000	0.20092	1.0:0.0:0.0:0.0	16.069	0.80716	906	0.23090	.;.	.	.	.	.	.	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	1329.98	33	chr4	78374165	.	A	C	1329.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.055e+00;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=-6.700e-02;SOR=0.645	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1344,0,1612	20	0	1	0
chr4	78452213	78452213	C	T	exonic	FRAS1	.	synonymous SNV	FRAS1:NM_025074:exon47:c.C6622T:p.L2208L,	Fraser syndrome, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	299510	Fraser_syndrome_1|not_provided	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.766	T	0.240	T	.	0.789	8.160	4.1	0.777	1.605	11.140	0.320	.	8.3e-05	.	0.0001	0	8.675e-05	0	0	0.0002	0	0	9.7e-05	15	154602	rs373744776	6.432e-05	6.43e-05	5.31e-05	7.565e-05	0.0009	5.362e-05	4.977e-05	0.0003	0.0002	2.988e-05	0.0001	0.0004	0	0	0.0009	5.847e-05	0.0001	0	7.878e-05	7.874e-05	8.995e-05	6.712e-05	0.0001	4.493e-05	3.509e-05	4.765e-05	3.339e-05	0	0	0	0.0012	0	0	0.0034	0.0001	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	852.98	36	chr4	78452213	.	C	T	852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.974e+00;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=0.393;SOR=0.675	GT:AD:DP:GQ:PL	0/1:46,36:82:99:867,0,1343	20	0	1	0
chr4	78499901	78499901	G	A	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon61:c.G9296A:p.R3099Q,	Fraser syndrome, Autosomal recessive	YES	0	1490	30	2	0	34	0.0112807	.	.	691618	FRAS1-related_disorder|Fraser_syndrome_1|Inborn_genetic_diseases|not_provided|not_specified	.|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.997	D	0.000	D	1.000	D	0.765	N	1.72	T	-1.058	T	0.117	T	0.882	4.200	21.8	5.91	2.802	9.727	20.298	0.303	0.0257026602405	0.0006	0.00119808	0.0014	0	0.0012	0.0001	0.0002	0.0013	0.0011	0.0042	0.0012484	193	154602	rs149692526	0.0008	0.0008	0.0007	0.0009	0.0123	0.0008	0.0007	0.0100	0.0091	9.146e-05	0.0010	0.0061	2.572e-05	3.809e-05	0.0123	0.0004	0.0015	0.0036	0.0009	0.0009	0.0008	0.0009	0.0046	0.0008	0.0007	0.0031	0.0026	7.216e-05	0	0.0011	0.0098	0	0	0.0238	0.0007	0.0024	0.0046	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.811	0.80669	-1.0577	0.12337	T	0.117	0.41253	T	10	0.020795912	0.00485	T	0.025703	0.48656	D	.	.	.	.	0.760667659914	0.75848	0.39087212594723714	0.39002	.	.	0.711399674416	0.68796	T	.	.	.	0.0934964	0.63581	D	0.35816	0.90632	D	0.0831080965044587	0.10380	T	0.914509	0.69499	D	.	.	.	.	.	.	.	.	-7.028	0.54238	T	.	.	0.087	0.11076	B	.	.	5.329954	0.89445	30	0.99936628813346795	0.99621	0.99074	0.90844	D	AEFBI	0.879822	0.80603	D	0.476479058648868	0.65720	4.858043	0.561012832698401	0.72167	5.767316	0.999999999143538	0.74766	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	9.860000	0.98420	9.886000	0.82236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.682000	0.33600	0.0:0.0:1.0:0.0	20.298	0.98571	911	0.21964	.	.	.	.	.	.	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	574.98	36	chr4	78499901	.	G	A	574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=773;ExcessHet=0.0000;FS=2.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.74;ReadPosRankSum=0.268;SOR=1.201	GT:AD:DP:GQ:PL	0/1:18,21:39:99:589,0,422	20	0	1	0
chr4	78507550	78507550	C	T	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon62:c.C9446T:p.T3149M,	Fraser syndrome, Autosomal recessive	.	0	1490	30	2	0	34	0.0112807	.	.	691619	not_specified|not_provided|Fraser_syndrome_1|FRAS1-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.965	D	0.000	D	1.000	D	1.1	L	-1.26	T	-0.025	T	0.486	T	0.88	3.142	16.51	5.11	2.552	3.096	13.238	0.557	0.0343286975373	0.0006	0.00119808	0.0014	0.0003	0.0012	0	0.0002	0.0013	0.0011	0.0038	0.0012872	199	154602	rs150680111	0.0008	0.0008	0.0007	0.0009	0.0122	0.0008	0.0008	0.0099	0.0090	0.0005	0.0009	0.0062	0	1.874e-05	0.0122	0.0005	0.0015	0.0037	0.0009	0.0009	0.0009	0.0010	0.0044	0.0008	0.0008	0.0029	0.0024	0.0003	0	0.0011	0.0098	0	0	0.0172	0.0007	0.0028	0.0044	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	0.000047	0.53742	D	0.123342	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.624	0.63883	-0.0249	0.81738	T	0.486	0.80431	T	10	0.014242351	0.00300	T	0.034329	0.55601	D	.	.	.	.	0.492475246742	0.48882	0.44849865841205155	0.44767	.	.	0.508672654629	0.40037	T	.	.	.	0.0373262	0.56693	T	0.277162	0.86970	D	0.0955655127763748	0.11862	T	0.940906	0.77861	D	.	.	.	.	.	.	.	.	-6.48	0.50132	T	.	.	0.083	0.09045	B	.	.	4.239587	0.64268	24.7	0.99857658900140112	0.93639	0.90348	0.51452	D	AEFBI	0.428277	0.49187	N	0.396309557505898	0.61221	4.320375	0.381480110657096	0.60424	4.229774	0.999997224973728	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.11	5.11	0.69188	3.140000	0.50281	4.019000	0.41233	0.549000	0.26987	0.989000	0.36753	0.989000	0.31174	0.385000	0.26447	0.0:0.9231:0.0:0.0769	13.238	0.59410	906	0.23090	.	.	.	.	.	.	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	1350.98	40	chr4	78507550	.	C	T	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=841;ExcessHet=0.0000;FS=2.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=-3.500e-01;SOR=0.941	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1365,0,1487	20	0	1	0
chr4	87662593	87662593	G	A	exonic	DMP1	.	nonsynonymous SNV	DMP1:NM_001079911:exon5:c.G767A:p.R256H	Hypophosphatemic rickets, AR, Autosomal recessive	.	0	1507	14	1	0	16	0.00528053	.	.	299765	Hypophosphatemic_rickets,_autosomal_recessive,_1|DMP1-related_disorder|not_provided	MONDO:MONDO:0009430,MedGen:C4551495,OMIM:241520,Orphanet:289176|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.104	B	0.126	B	0.076	N	1.000	N	0.75	N	0.74	T	-1.035	T	0.057	T	0.147	-0.308	2.534	1.02	0.226	-0.144	6.963	0.025	0.014905615757	0.0022	0.00119808	0.0018	0.0004	0.0031	0.0001	0.0002	0.0026	0.0022	0.0002	0.0019146	296	154602	rs145237146	0.0019	0.0019	0.0019	0.0019	0.0069	0.0019	0.0018	0.0052	0.0046	0.0004	0.0045	0.0014	2.519e-05	0.0001	0.0069	0.0021	0.0023	0.0004	0.0020	0.0020	0.0019	0.0021	0.0078	0.0018	0.0017	0.0066	0.0062	0.0006	0	0.0078	0.0017	0	0	0.0034	0.0021	0.0019	0.0002	0.158	0.23905	T	0.309	0.20680	T	0.104	0.25941	B	0.126	0.32692	B	0.076101	0.21182	N	0.441060	1	0.08975	N	1.865	0.49290	L	0.74	0.50459	T	-3.44	0.67477	D	0.047	0.05037	-1.0346	0.18983	T	0.057	0.23866	T	10	0.005351305	0.00117	T	0.014906	0.35329	T	0.025	0.05312	.	.	0.454145904683	0.45038	0.07994858060983814	0.07929	0.0685784815088	0.07678	0.183100283146	0.00126	T	0.078318	0.35863	T	-0.579956	0.00193	T	-0.600152	0.12799	T	0.00803769021244275	0.00095	T	0.765223	0.39255	T	0.05139111	0.09430	0.052140538	0.08532	0.04348404	0.06785	0.05318207	0.08907	-4.42	0.29827	T	0.21188146941761274	0.28418	0.078	0.07224	B	.;.	.;.	0.406359	0.07776	4.461	0.85806136556211543	0.16124	0.02404	0.06808	N	AEFBI	0.048499	0.08283	N	-1.18915488753358	0.05163	0.2347304	-1.19036473884939	0.06070	0.2910689	1.31514151134682E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.3	1.02	0.19102	0.065000	0.14336	-1.625000	0.05036	-2.236000	0.00342	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3191:0.1216:0.5593:0.0	6.963	0.23789	419	0.81524	.;.	.	.	.	.	.	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	1806.98	33	chr4	87662593	.	G	A	1806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.094;DP=894;ExcessHet=0.0000;FS=6.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=0.751;SOR=0.317	GT:AD:DP:GQ:PL	0/1:56,70:126:99:1821,0,1388	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	1/1:0,206:206:99:7044,619,0	13	1	7	0
chr5	38528850	38528853	ACAC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	18	95	41	30	42	143	0.347079	.	.	304338	not_specified|Stuve-Wiedemann_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0911	0.0372	0.0443	0.0489	0.0192	0.1161	0.0842	0.0855	0.0001617	25	154602	rs762238623	0.0461	0.0603	0.0450	0.0472	0.0799	0.0457	0.0456	0.0721	0.0691	0.0315	0.0263	0.1433	0.0287	0.0396	0.0799	0.0450	0.0515	0.0496	0.0145	0.0146	0.0151	0.0140	0.0281	0.0140	0.0138	0.0267	0.0262	0.0281	0	0.0095	0.0479	0.0074	0.0073	0.0263	0.0077	0.0180	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	6823.62	31	chr5	38528849	.	GACAC	G,GAC,GACACAC,GACACACAC	6823.62	.	AC=2,15,2,1;AF=0.048,0.357,0.048,0.024;AN=42;BaseQRankSum=-5.370e-01;DP=895;ExcessHet=8.0185;FS=2.856;InbreedingCoeff=-0.3364;MLEAC=2,15,2,1;MLEAF=0.048,0.357,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-5.950e-01;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:22,0,4,0,0:26:41:.:.:41,108,962,0,854,842,108,962,854,962,108,962,854,962,962	4	0	0	0
chr5	132642304	132642304	C	T	exonic	RAD50	.	synonymous SNV	RAD50:NM_005732:exon25:c.C3879T:p.I1293I,	Nijmegen breakage syndrome-like disorder	.	0	1521	1	0	0	1	0.000328623	.	.	45938	Hereditary_cancer-predisposing_syndrome|not_specified|Nijmegen_breakage_syndrome-like_disorder|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.00119808	0.0022	0.0007	0.0035	0.0002	0.0011	0.0031	0.0022	0	0.0025355	392	154602	rs28903094	0.0042	0.0043	0.0044	0.0041	0.0052	0.0042	0.0041	0.0051	0.0050	0.0010	0.0037	0.0001	7.557e-05	0.0005	0	0.0052	0.0034	1.159e-05	0.0028	0.0028	0.0028	0.0027	0.0045	0.0025	0.0024	0.0041	0.0039	0.0012	0	0.0037	0	0	0.0004	0	0.0045	0.0009	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	1	1	0.02381	1569.98	33	chr5	132642304	.	C	T	1569.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.620;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-8.460e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/1:42,65:107:99:1584,0,851	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	0/1:63,61:124:99:1359,0,1305	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	0/4:28,0,0,0,16,0,0:44:99:585,672,1830,672,1830,1830,672,1830,1830,1830,0,1158,1158,1158,1110,672,1830,1830,1830,1158,1830,672,1830,1830,1830,1158,1830,1830	6	2	1	0
chr5	147831724	147831724	T	C	UTR5	SPINK1	NM_003122:c.-147A>G;NM_001354966:c.-147A>G	.	.	Pancreatitis, hereditary, Autosomal dominant;Tropical calcific pancreatitis, Autosomal recessive, Autosomal dominant	.	86	1433	2	1	0	4	0.00139373	.	.	239773	Tropical_pancreatitis|Hereditary_pancreatitis|SPINK1-related_disorder|not_provided	MONDO:MONDO:0011986,MedGen:C1842402,OMIM:608189,Orphanet:103918|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001294	20	154602	rs779832256	0.0006	0.0006	0.0006	0.0007	0.0077	0.0006	0.0006	0.0055	0.0048	0.0002	0.0005	0.0214	0	0	0.0077	0.0002	0.0016	0.0002	0.0007	0.0007	0.0008	0.0006	0.0003	0.0006	0.0006	0.0002	0.0002	0.0002	0	0.0002	0.0216	0.0002	0	0.0034	0.0003	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	55.03	11	chr5	147831724	.	T	C	55.03	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.530e-01;DP=249;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0280;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=1.65;SOR=0.446	GT:AD:DP:GQ:PL	0/1:3,2:5:69:69,0,112	20	0	1	0
chr5	149884543	149884543	G	A	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon16:c.C1963T:p.H655Y,	Retinitis pigmentosa 43	.	2	1514	5	1	0	7	0.00230643	.	.	98917	Retinitis_pigmentosa|Retinitis_pigmentosa_43|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.004	B	0.02	B	0.000	D	0.822	D	-1.295	N	-0.83	T	-0.909	T	0.040	T	0.114	0.045	4.251	5.72	2.705	1.834	10.752	0.181	.	0.0209	0.00539137	0.0160	0.0047	0.0067	0	0.0138	0.0249	0.0165	0.0032	0.0174707	2701	154602	rs78775072	0.0256	0.0257	0.0262	0.0250	0.0308	0.0254	0.0253	0.0306	0.0305	0.0040	0.0079	0.0124	0	0.0151	0.0017	0.0308	0.0203	0.0030	0.0159	0.0160	0.0175	0.0143	0.0267	0.0154	0.0152	0.0257	0.0252	0.0048	0	0.0087	0.0112	0	0.0180	0	0.0267	0.0147	0.0035	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.02	0.19048	B	0.000147	0.49130	D	0.174584	0.822246	0.34793	D	-0.45	0.02807	N	-0.83	0.74159	T	1.01	0.01387	N	0.138	0.23125	-0.9086	0.47025	T	0.040	0.17319	T	10	0.0057945848	0.00129	T	.	.	.	0.181	0.45247	.	.	.	.	0.3581812875713412	0.35732	0.114255575049	0.12884	0.73395293951	0.72084	T	0.232538	0.59912	T	-0.516527	0.00461	T	-0.482597	0.24170	T	0.0111574215824756	0.00163	T	0.823718	0.48487	T	0.080224656	0.18372	0.103844255	0.24925	0.10147187	0.23968	0.12773111	0.30741	-4.147	0.25980	T	0.05174139455407952	0.00961	0.104	0.19032	B	.;.;.	.;.;.	3.198077	0.43478	21.7	0.87993739363772538	0.17636	0.76138	0.37320	D	AEFDI	0.164957	0.29140	N	-0.488436046547254	0.22460	1.199394	-0.169593248776211	0.32661	1.860451	0.999994112523807	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.72	5.72	0.89380	1.823000	0.38700	11.847000	0.97966	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.959000	0.51448	0.086:0.0:0.914:0.0	10.752	0.45415	781	0.47532	3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase 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	0	0	1	0	0.02381	540.98	35	chr5	149884543	.	G	A	540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.200e-02;DP=740;ExcessHet=0.0000;FS=3.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=-1.430e+00;SOR=1.101	GT:AD:DP:GQ:PL	0/1:33,25:58:99:555,0,773	20	0	1	0
chr5	177093242	177093242	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_001354984:exon9:c.G1162A:p.G388R	.	.	415	588	404	115	0	634	0.350276	.	.	31365	not_specified|See_cases|Cancer_progression_and_tumor_cell_motility|FGFR4-related_disorder	MedGen:CN169374|.|MedGen:C4016099|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.7	P	0.006	N	0.000	P	1.1	L	-1.67	D	-0.884	T	0.000	T	0.707	3.743	19.01	4.29	2.233	4.235	11.212	0.062	.	0.2423	0.299521	0.3210	0.1323	0.4337	0.4495	0.3358	0.3029	0.3112	0.3580	0.309718	47883	154602	rs351855	0.3062	0.3062	0.3051	0.3073	0.4369	0.3054	0.3051	0.4315	0.4292	0.1286	0.4070	0.3161	0.4369	0.3292	0.2908	0.2980	0.3088	0.3500	0.2682	0.2685	0.2646	0.2721	0.4490	0.2660	0.2651	0.4337	0.4275	0.1329	0.2719	0.3301	0.3207	0.4490	0.3254	0.2245	0.3048	0.2718	0.3663	0.12	0.27904	T	0.358	0.17064	T	0.998	0.73220	D	0.7	0.54153	P	0.005687	0.32589	N	0.316526	0.0177303	0.81001	P	1.5	0.37844	L	-1.67	0.82806	D	-0.16	0.09460	N	0.469	0.50508	-0.8840	0.49440	T	0.000	0.00011	T	9	0.0041104257	0.00081	T	.	.	.	0.519	0.79522	0.255	0.19533	.	.	0.7522868110974598	0.75175	0.827512574282	0.67481	0.476968705654	0.35640	T	0.259171	0.63041	T	-0.237093	0.15723	T	0.0304758	0.72308	D	0.0179416488997758	0.00520	T	0.631737	0.24648	T	0.10127284	0.23920	0.10703784	0.25763	0.10127284	0.23920	0.1078294	0.25965	-4.362	0.29037	T	.	.	0.313	0.60805	B	.;.	.;.	4.760676	0.76968	26.6	0.99879957222399041	0.95653	0.97395	0.74477	D	AEFDGBCI	0.850981	0.76783	D	0.164708132140378	0.49509	3.150608	0.211651071616305	0.50492	3.240753	0.999999535481989	0.74766	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	4.29	4.29	0.50359	6.850000	0.75217	6.632000	0.56155	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0906:0.0:0.9094:0.0	11.212	0.48035	835	0.38313	.;.	FGFR4|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|RGS14|PRELID1|FGFR4|RGS14|FGFR4|RGS14|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|UIMC1|RGS14|FGFR4|FGFR4|PRELID1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood	.	.	rs351855	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	1	0	0	0	0	0	0	0	0	0	0	0.2381	15721.78	33	chr5	177093242	.	G	A	15721.78	.	AC=10;AF=0.238;AN=42;BaseQRankSum=1.25;DP=1298;ExcessHet=0.2067;FS=0.548;InbreedingCoeff=0.2125;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=18.92;ReadPosRankSum=0.173;SOR=0.632	GT:AD:DP:GQ:PL	0/1:46,55:101:99:1471,0,1101	13	2	6	0
chr6	3225346	3225346	G	A	exonic	TUBB2B	.	nonsynonymous SNV	TUBB2B:NM_178012:exon4:c.C743T:p.A248V,	Polymicrogyria, symmetric or asymmetric, Autosomal dominant	YES	1	1461	60	0	0	60	0.0201207	.	.	369100	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.274	B	0.082	B	0.000	D	1.000	D	0.975	L	-1.69	D	-0.509	T	0.269	T	0.825	0.573	7.094	4.18	1.121	9.506	14.870	0.853	.	.	.	0.1960	0.4381	0.2196	0.4007	0.2222	0.0219	0.1848	0.1587	0.0191977	2968	154602	rs777598117	0.0002	0.0032	0.0001	0.0002	0.0015	0.0001	0.0001	0.0012	0.0011	0.0015	0.0001	0	0.0015	0.0009	0.0011	1.53e-05	0.0003	0.0005	0.0158	0.0283	0.0148	0.0170	0.0720	0.0152	0.0150	0.0691	0.0680	0.0720	0	0.0057	0.0003	0.0232	0.0031	0	0.0003	0.0068	0.0070	.	.	.	0.002	0.79402	D	0.006	0.13644	B	0.022	0.19653	B	0.000004	0.62929	D	0.000000	1	0.81001	D	1.105	0.28596	L	-1.69	0.82985	D	-3.03	0.62747	D	0.558	0.58287	-0.5089	0.68327	T	0.269	0.64098	T	10	0.0078929365	0.00179	T	.	.	.	0.853	0.95470	.	.	.	.	0.8514558035311852	0.85107	.	.	0.849723219872	0.89573	D	0.392634	0.75225	T	0.298134	0.82818	D	0.190473	0.82595	D	0.941738069057465	0.61526	D	0.945705	0.79334	D	0.9112244	0.92409	0.71908325	0.83416	0.9112244	0.92410	0.71908325	0.83417	-10.786	0.78471	D	0.8012424856202793	0.87795	0.981	0.91323	P	.	.	5.329703	0.89445	30	0.87556040732080753	0.17312	0.98642	0.85044	D	AEFI	0.901537	0.84834	D	-0.215602544021157	0.32493	1.833079	-0.104902346528305	0.35193	2.033129	0.999958683031959	0.48110	0.732398	0.92422	0	0.693144	0.66847	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.06	4.18	0.48473	9.641000	0.97840	10.761000	0.83698	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8552:0.1448	14.870	0.70090	843	0.36859	Tubulin/FtsZ, 2-layer sandwich domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	246.98	38	chr6	3225346	.	G	A	246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.816e+00;DP=806;ExcessHet=0.0000;FS=1.654;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.26;MQRankSum=-2.231e+00;QD=2.91;ReadPosRankSum=-1.061e+00;SOR=0.902	GT:AD:DP:GQ:PL	0/1:70,15:85:99:261,0,2387	20	0	1	0
chr6	3225386	3225386	C	T	exonic	TUBB2B	.	nonsynonymous SNV	TUBB2B:NM_178012:exon4:c.G703A:p.G235R,	Polymicrogyria, symmetric or asymmetric, Autosomal dominant	.	1	1510	11	0	0	11	0.00362917	.	.	168564	Complex_cortical_dysplasia_with_other_brain_malformations_7|not_provided	MONDO:MONDO:0012399,MedGen:C3552236,OMIM:610031,Orphanet:300573|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.775	M	-0.47	T	0.209	D	0.541	D	0.995	1.661	11.51	5.06	2.368	7.609	18.499	0.765	.	.	.	0.0336	0.2134	0.0290	0	0	0.0025	0.0179	0.0002	6.5e-06	1	154602	rs587784500	0.0005	0.0031	0.0005	0.0004	0.0198	0.0004	0.0004	0.0184	0.0178	0.0198	0.0007	0	0	0	0.0018	3.06e-05	0.0008	4.64e-05	0.0087	0.0180	0.0090	0.0084	0.0341	0.0083	0.0082	0.0324	0.0318	0.0341	0	0.0028	0	0	0	0	0.0002	0.0082	0	.	.	.	0.027	0.55341	D	1.0	0.90584	D	1.0	0.97372	D	0.000003	0.62929	D	0.000000	1	0.81001	D	3.315	0.90654	M	-0.47	0.70133	T	-7.02	0.93786	D	0.737	0.73735	0.209	0.86066	D	0.541	0.83084	D	10	0.010431141	0.00232	T	.	.	.	0.765	0.92046	0.904	0.97943	0.783568991244	0.78157	0.9838698083096791	0.98379	.	.	0.891552507877	0.95452	D	0.586366	0.86533	D	0.39552	0.89653	D	0.33036	0.89524	D	0.0629647817112368	0.07627	T	0.849815	0.53298	T	0.9055868	0.91887	0.71820825	0.83364	0.9055868	0.91888	0.71820825	0.83365	-12.457	0.87005	D	0.9893068909272792	0.99727	1.000	0.99219	P	.	.	5.245995	0.88070	29.5	0.99422308997865294	0.63838	0.99217	0.92958	D	AEFI	0.920012	0.89135	D	0.71947541552416	0.80910	7.400064	0.612403000543904	0.75838	6.382197	0.999999999995136	0.74766	0.732398	0.92422	0	0.693144	0.66847	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.06	5.06	0.67838	7.698000	0.83519	7.096000	0.57520	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.499	0.90824	843	0.36859	Tubulin/FtsZ, GTPase 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	821.98	38	chr6	3225386	.	C	T	821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=909;ExcessHet=0.0000;FS=1.432;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.05;MQRankSum=-4.200e-01;QD=4.49;ReadPosRankSum=0.220;SOR=0.853	GT:AD:DP:GQ:PL	0/1:137,46:183:99:836,0,3624	20	0	1	0
chr6	6318562	6318562	C	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon2:c.G103T:p.V35L,	Factor XIIIA deficiency, Autosomal recessive	.	18	1151	323	30	0	383	0.142644	.	.	31571	not_specified|not_provided|Factor_XIII,_A_subunit,_deficiency_of|Myocardial_infarction,_protection_against|Venous_thrombosis,_protection_against	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331|MedGen:C3277063|MedGen:C2751120	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.0	B	0.550	N	1.000	P	-0.695	N	-2.06	D	-1.098	T	0.089	T	0.208	-1.563	0.015	1.89	0.212	-0.249	4.197	0.216	.	0.2281	0.147764	0.2059	0.1840	0.2566	0.0006	0.2123	0.2486	0.2126	0.1163	0.204499	31616	154602	rs5985	0.2350	0.2350	0.2386	0.2313	0.2581	0.2343	0.2340	0.2573	0.2570	0.1795	0.2536	0.1703	0.0008	0.2069	0.1336	0.2581	0.2120	0.1164	0.2150	0.2153	0.2200	0.2098	0.2557	0.2131	0.2123	0.2525	0.2512	0.1844	0.3717	0.2302	0.1696	0.0023	0.2059	0.1258	0.2557	0.2075	0.1167	1.0	0.53172	T	0.428	0.13792	T	.	.	.	.	.	.	0.549870	0.11447	N	0.784671	1	0.08975	P	.	.	.	-2.06	0.85875	D	-0.27	0.47683	N	0.018	0.00252	-1.0984	0.04290	T	0.089	0.34160	T	9	0.0058254898	0.00130	T	.	.	.	0.216	0.50959	0.521	0.62368	.	.	0.251286304130597	0.25042	0.218364611194	0.24371	0.279310077429	0.07396	T	0.006489	0.05922	T	-0.532642	0.00371	T	-0.394059	0.34077	T	0.000545350228055955	0.00005	T	0.29797	0.05545	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.04847	B	.;.;.	.;.;.	-1.135760	0.00599	0.015	0.36128701424949611	0.02307	0.01153	0.04166	N	AEFDBI	0.092907	0.18803	N	-1.50731017501558	0.01801	0.07894147	-1.43471435441821	0.02911	0.1348284	0.99996711313162	0.48965	0.615465	0.37627	0	0.633656	0.55848	0	0.535252	0.11790	0	0.542086	0.14980	0	.	.	4.64	1.89	0.24700	-0.148000	0.10203	-0.167000	0.11264	-1.952000	0.00483	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0869:0.1605:0.5922:0.1605	4.197	0.09908	975	0.05339	.;.;.	.	.	.	.	rs5985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	7735.88	70	chr6	6318562	.	C	A	7735.88	.	AC=8;AF=0.190;AN=42;BaseQRankSum=1.60;DP=1070;ExcessHet=0.5418;FS=1.099;InbreedingCoeff=0.0735;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=0.596;SOR=0.597	GT:AD:DP:GQ:PL	0/1:36,43:79:99:1059,0,880	14	1	6	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	0/1:205,177:382:99:4818,0,5500	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	0/3:17,0,0,9,0,0:26:99:1073,870,2147,447,1867,2400,0,837,752,670,870,2147,1867,837,2147,870,2147,1867,837,2147,2147	9	0	3	0
chr6	31967105	31967105	G	C	exonic	SKIV2L	.	nonsynonymous SNV	SKIV2L:NM_006929:exon20:c.G2442C:p.W814C,	Trichohepatoenteric syndrome 2, Autosomal recessive	YES	0	1513	9	0	0	9	0.0029654	.	.	895810	See_cases|Trichohepatoenteric_syndrome_2|not_provided|SKIC2-related_disorder	.|MONDO:MONDO:0013818,MedGen:C3281289,OMIM:614602,Orphanet:84064|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.985	D	0.781	P	0.000	D	1.000	D	0.895	L	1.0	T	-1.064	T	0.084	T	0.654	1.243	10.05	4.79	1.390	2.489	14.091	0.152	0.0132432397357	0.0006	0.000599042	0.0009	0.0002	0.0008	0.0001	0	0.0013	0	0.0004	0.0008344	129	154602	rs148221996	0.0009	0.0009	0.0008	0.0009	0.0055	0.0009	0.0008	0.0040	0.0035	0.0003	0.0012	0.0013	0	7.65e-05	0.0055	0.0009	0.0011	0.0007	0.0007	0.0007	0.0007	0.0008	0.0013	0.0006	0.0006	0.0011	0.0010	7.217e-05	0	0.0008	0.0006	0	0	0.0136	0.0013	0.0005	0.0004	0.102	0.30235	T	0.182	0.29249	T	0.985	0.61118	D	0.781	0.57337	P	0.000149	0.49130	D	0.171563	0.999996	0.58761	D	1.5	0.37844	L	1.0	0.41392	T	-0.57	0.17210	N	0.514	0.54496	-1.0642	0.10736	T	0.084	0.32729	T	10	0.027136385	0.00865	T	0.013243	0.32488	T	0.152	0.39956	0.448	0.50793	0.488266720666	0.48458	0.6527026082036311	0.65206	1.01233321786	0.74823	0.479667007923	0.36010	T	0.045652	0.27188	T	-0.316006	0.07230	T	-0.267231	0.48100	T	0.0455885371250696	0.04710	T	.	.	.	0.41510364	0.61764	0.24289657	0.49721	0.41510364	0.61765	0.24289657	0.49720	-4.053	0.24594	T	.	.	0.513	0.65163	A	.	.	3.394735	0.47017	22.4	0.89525173881678322	0.18872	0.96015	0.67148	D	AEFGBI	0.527268	0.54928	D	0.31194114473843	0.56762	3.841381	0.332179747563783	0.57440	3.909722	0.999999785590353	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	4.79	0.60909	1.444000	0.34679	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.1505:0.8495:0.0	14.091	0.64519	923	0.18507	rRNA-processing arch 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	1670.98	35	chr6	31967105	.	G	C	1670.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.043;DP=834;ExcessHet=0.0000;FS=2.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=0.217;SOR=0.516	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1685,0,1578	20	0	1	0
chr6	32041874	32041874	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1817A:p.S606N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	156	1167	186	13	0	212	0.0832679	.	.	188198	not_specified|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:CN169374|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.0	B	0.0	B	0.000	N	0.999	N	-0.42	N	-1.13	T	-1.036	T	0.077	T	0.011	-0.676	1.049	4.69	0.841	0.397	7.621	0.224	.	.	.	0.2369	0.3095	0.2	0.1429	0	0.2778	0.1795	0.2191	0.0010758	28	26028	rs199953230	0.0630	0.0905	0.0592	0.0664	0.1302	0.0624	0.0622	0.1249	0.1228	0.1302	0.0596	0.1009	0.0097	0.0564	0.0714	0.0578	0.0619	0.1021	0.0672	0.1011	0.0661	0.0684	0.1241	0.0658	0.0652	0.1200	0.1183	0.1241	0.0690	0.0633	0.0770	0.0199	0.0294	0.0337	0.0503	0.0673	0.0711	0.551	0.14996	T	1.0	0.01155	T	.	.	.	.	.	.	0.000041	0.53742	N	0.000000	1	0.08975	N	.	.	.	-1.13	0.77719	T	1.79	0.01121	N	0.06	0.07125	-1.0357	0.18637	T	0.077	0.30737	T	10	0.001997441	0.00028	T	.	.	.	0.224	0.52174	.	.	.	.	0.07582235178256264	0.07518	1.53742651601	0.87669	0.813815176487	0.84078	D	0.002058	0.01461	T	-0.234486	0.16060	T	-0.574599	0.15031	T	0.00591933667003544	0.00065	T	0.0176649	0.00099	T	0.06130841	0.12681	0.061310552	0.11818	0.06130841	0.12681	0.061310552	0.11817	-1.845	0.03461	T	0.1229657868823964	0.11852	0.050	0.00315	B	.;.;.;.;.	.;.;.;.;.	1.709254	0.21764	15.34	0.88167499122725401	0.17767	0.04006	0.09432	N	AEFGI	0.064479	0.12523	N	-0.809593627523601	0.13065	0.6410341	-0.628300974256214	0.18767	1.004015	0.0322796501112813	0.14047	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	0.728000	0.25682	.	.	-0.113000	0.14837	0.000000	0.06391	1.000000	0.68203	0.988000	0.63387	0.0:0.1752:0.0:0.8248	7.621	0.27353	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.1905	2304.2	31	chr6	32041874	.	C	T	2304.2	.	AC=8;AF=0.190;AN=42;BaseQRankSum=0.528;DP=489;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0675;MLEAC=8;MLEAF=0.190;MQ=30.80;MQRankSum=-1.815e+00;QD=9.64;ReadPosRankSum=0.113;SOR=1.033	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,9:30:99:0|1:32041857_C_T:301,0,843:32041857	14	1	6	0
chr6	32041884	32041884	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1807A:p.D603N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	196	1075	234	17	0	268	0.110835	.	.	188199	not_specified|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:CN169374|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.973	D	0.000	D	1.000	D	2.32	M	-2.09	D	0.625	D	0.742	D	0.104	4.721	26.3	4.69	2.454	4.702	16.619	0.573	.	.	.	0.3540	0.3552	0.2576	0.2614	0.25	0.3279	0.3235	0.3705	0.0028815	75	26028	rs200523717	0.0936	0.1128	0.0868	0.0996	0.1959	0.0929	0.0926	0.1926	0.1913	0.1491	0.0685	0.1155	0.0517	0.0767	0.0855	0.0816	0.0909	0.1959	0.0934	0.1198	0.0902	0.0970	0.1735	0.0916	0.0909	0.1588	0.1531	0.1512	0.0543	0.0817	0.0987	0.0567	0.0481	0.0455	0.0740	0.0915	0.1735	0.0	0.91255	D	0.013	0.65728	D	.	.	.	.	.	.	0.000063	0.52346	D	0.000000	0.996006	0.53665	D	.	.	.	-2.09	0.86077	D	-3.33	0.76655	D	0.197	0.60241	0.625	0.92223	D	0.742	0.91206	D	10	0.008031756	0.00182	T	.	.	.	0.573	0.82686	.	.	.	.	0.6407622812908406	0.64011	2.90588491431	0.99094	0.832190692425	0.86898	D	0.145862	0.48318	T	-0.011318	0.50081	T	-0.254034	0.49419	T	0.0173785942299874	0.00476	T	0.856614	0.67171	D	0.72789073	0.79605	0.6560945	0.79863	0.72789073	0.79606	0.6560945	0.79864	-9.574	0.71400	D	0.1226877263887742	0.11790	0.685	0.72405	P	.;.;.;.;.	.;.;.;.;.	5.229507	0.87781	29.4	0.99892685643528023	0.96666	0.96837	0.71207	D	AEFGI	0.734139	0.68036	D	0.721571237210364	0.81047	7.431562	0.669935722984053	0.80102	7.224991	0.998872174677663	0.37868	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	5.028000	0.63895	.	.	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.619	0.84780	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2710.32	28	chr6	32041884	.	C	T	2710.32	.	AC=9;AF=0.225;AN=40;BaseQRankSum=2.92;DP=441;ExcessHet=0.9430;FS=2.573;InbreedingCoeff=-0.0229;MLEAC=9;MLEAF=0.225;MQ=30.71;MQRankSum=-2.210e+00;QD=10.67;ReadPosRankSum=0.229;SOR=1.211	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,6:25:99:0|1:32041857_C_T:195,0,780:32041857	12	1	7	1
chr6	32043506	32043506	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G868A:p.A290T	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	120	1399	3	0	0	3	0.00107105	.	.	1694692	not_specified|Ehlers-Danlos_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.997	D	0.841	P	0.454	N	1.000	D	2.34	M	0.49	T	-0.887	T	0.167	T	0.246	2.279	13.58	1.71	0.032	2.579	8.498	0.200	0.0180251940798	.	0.00119808	0.0024	0.0017	0.0046	0	0	0.0035	0	0.0009	0.0003458	9	26028	rs201121030	0.0010	0.0008	0.0009	0.0011	0.0068	0.0009	0.0009	0.0043	0.0036	0.0002	0.0012	0.0012	6.07e-05	9.129e-05	0.0068	0.0012	0.0011	0.0006	0.0008	0.0008	0.0007	0.0009	0.0012	0.0006	0.0006	0.0010	0.0009	0.0003	0	0.0005	0.0003	0	0	0.0112	0.0012	0.0008	0	0.008	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.453655	0.12476	N	0.735618	0.922697	0.53665	D	.	.	.	0.49	0.55775	T	-2.65	0.69593	D	0.208	0.23125	-0.8871	0.49180	T	0.167	0.50599	T	10	0.009551793	0.00215	T	0.018025	0.39953	T	0.200	0.48430	.	.	0.165150595986	0.16160	0.41286035044583586	0.41202	0.371747863183	0.38671	0.419020175934	0.27702	T	0.094282	0.39385	T	-0.380816	0.03080	T	-0.360326	0.38016	T	0.0379868352208285	0.03329	T	0.684832	0.29327	T	0.15986133	0.35887	0.15757751	0.36839	0.15986133	0.35887	0.15757751	0.36838	-7.988	0.63082	D	0.1229657868823964	0.11852	0.113	0.23918	B	.;.;.;.;.	.;.;.;.;.	2.466423	0.31778	18.84	0.99176587259969862	0.54556	0.63644	0.32154	D	AEFGI	0.196714	0.32367	N	-0.231261647715226	0.31856	1.790603	-0.433831537383387	0.24010	1.312506	0.0100591575076075	0.11959	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.44	1.71	0.23429	1.647000	0.36876	.	.	-0.176000	0.10722	0.626000	0.27965	0.258000	0.23964	0.143000	0.20056	0.0:0.6752:0.0:0.3248	8.498	0.32299	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|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	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	124.12	11	chr6	32043506	.	C	T	124.12	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.189e+00;DP=198;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0335;MLEAC=1;MLEAF=0.024;MQ=40.00;MQRankSum=0.00;QD=17.73;ReadPosRankSum=0.328;SOR=0.941	GT:AD:DP:GQ:PL	0/1:3,4:7:99:138,0,105	20	0	1	0
chr6	32044417	32044417	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon2:c.G514A:p.D172N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	969	551	2	0	0	2	0.00181159	.	.	977220	Ehlers-Danlos_syndrome|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency|not_specified	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.2	T	1.0	D	0.998	D	0.000	D	1.000	N	1.67	L	3.61	T	-1.112	T	0.026	T	0.066	3.065	16.23	5.69	2.696	4.005	16.727	0.211	0.0112294948627	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1254121532	0.0012	0.0010	0.0011	0.0012	0.0077	0.0011	0.0010	0.0045	0.0036	9.112e-05	0.0009	0.0014	3.759e-05	4.139e-05	0.0077	0.0015	0.0012	0.0006	0.0007	0.0009	0.0005	0.0011	0.0011	0.0005	0.0004	0.0007	0.0006	0.0005	0	0	0	0	0	0.0244	0.0011	0	0	0.128	0.26965	T	0.014	0.62352	D	.	.	.	.	.	.	0.000012	0.62929	D	0.000000	0.708464	0.33494	D	.	.	.	3.61	0.04446	T	-3.02	0.63207	D	0.25	0.34981	-1.1120	0.02903	T	0.026	0.10954	T	10	0.090438515	0.15755	T	0.011229	0.28641	T	0.211	0.50185	.	.	0.34333109794	0.33943	0.15226631428976453	0.15148	3.36241963825	0.99660	0.745373129845	0.73763	T	0.065093	0.32602	T	-0.320564	0.06851	T	-0.698244	0.05922	T	0.0925209306345529	0.11513	T	0.815218	0.55818	T	0.19357169	0.41073	0.18642567	0.41814	0.19357169	0.41073	0.18642567	0.41813	-5.255	0.49767	T	0.12421210424589192	0.12153	0.243	0.49645	B	.;.;.;.;.	.;.;.;.;.	4.727138	0.76104	26.5	0.99595775648612905	0.73866	0.89054	0.49294	D	AEFGI	0.443556	0.50081	N	0.427867083973915	0.62959	4.520805	0.379457943957691	0.60300	4.216027	0.998892795442332	0.37915	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	0.735000	0.25783	.	.	0.597000	0.34315	0.339000	0.25666	1.000000	0.68203	0.221000	0.22489	0.0:1.0:0.0:0.0	16.727	0.85284	917	0.20147	Fibronectin type III;.;Fibronectin type III;.;Fibronectin type III	.	.	.	.	.	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	0.04545	106.45	3	chr6	32044417	.	C	T	106.45	.	AC=1;AF=0.045;AN=22;BaseQRankSum=1.15;DP=21;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1634;MLEAC=2;MLEAF=0.091;MQ=40.00;MQRankSum=0.00;QD=26.61;ReadPosRankSum=-1.150e+00;SOR=1.609	GT:AD:DP:GQ:PL	0/1:1,3:4:21:112,0,21	10	0	1	10
chr6	32056873	32056873	G	A	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon23:c.C7856T:p.P2619L	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	0	1514	8	0	0	8	0.00263505	.	.	511656	Cardiovascular_phenotype|Ehlers-Danlos_syndrome|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency|not_provided|not_specified	MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.37	T	0.199	B	0.045	B	0.002	N	1.000	D	1.76	L	0.59	T	-1.054	T	0.091	T	0.352	2.880	15.60	4.09	1.835	3.693	13.294	0.194	0.0197306633525	0.0006	0.00119808	0.0009	0.0003	0.0006	0.0001	0	0.0014	0	0.0004	0.0008344	129	154602	rs183760368	0.0009	0.0009	0.0008	0.0009	0.0055	0.0008	0.0008	0.0040	0.0035	0.0005	0.0011	0.0013	0	7.632e-05	0.0055	0.0009	0.0010	0.0007	0.0008	0.0008	0.0007	0.0009	0.0013	0.0007	0.0006	0.0011	0.0010	0.0003	0	0.0008	0.0006	0	0	0.0136	0.0013	0.0005	0.0004	0.008	0.58626	D	0.01	0.83351	D	.	.	.	.	.	.	0.001789	0.00826	N	4.968620	0.924327	0.36772	D	.	.	.	0.59	0.53943	T	-5.23	0.83899	D	0.099	0.08088	-1.0537	0.13386	T	0.091	0.34765	T	10	0.021029472	0.00495	T	0.019731	0.42166	T	0.194	0.47447	.	.	0.261638197198	0.25763	.	.	.	.	0.323908895254	0.14013	T	0.306891	0.67907	T	-0.346399	0.04957	T	-0.315907	0.43021	T	0.0957816393141036	0.11886	T	0.608539	0.40135	T	0.13196036	0.30741	0.15864444	0.37037	0.13196036	0.30741	0.15864444	0.37036	-8.539	0.64687	D	0.12497254194179234	0.12352	0.102	0.18080	B	.;.;.;.	.;.;.;.	1.410041	0.18251	13.63	0.98909816530310446	0.48345	0.40446	0.26438	N	AEFBI	0.179891	0.30718	N	-0.431817293675742	0.24360	1.314827	-0.418046539142697	0.24468	1.339998	0.875396755466803	0.25505	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	4.09	4.09	0.47038	2.671000	0.46507	.	.	0.505000	0.23025	0.102000	0.22834	0.387000	0.24645	0.002000	0.04165	0.0:0.0:1.0:0.0	13.294	0.59721	917	0.20147	.;.;.;.	.	.	.	.	.	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	1757.98	34	chr6	32056873	.	G	A	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.98;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.420;SOR=0.723	GT:AD:DP:GQ:PL	0/1:73,65:138:99:1772,0,1835	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	0/1:2,3:5:75:120,0,75	6	8	7	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	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	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,19,0:40:99:0|1:80007990_G_C:598,0,807,661,862,1524:80007990	1	0	9	7
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|1:21,20,0:41:99:0|1:80007990_G_C:605,0,805,668,862,1531:80007990	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|1:21,20,0,0:41:99:0|1:80007990_G_C:605,0,805,668,862,1531,668,862,1531,1531:80007990	1	0	7	8
chr6	123548625	123548627	AAA	-	intronic	TRDN	.	.	.	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	.	402	432	251	308	129	996	0.500867	.	.	298899	not_provided|Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0759	0.1271	0.0471	0.0123	0.0159	0.0826	0.0694	0.0650	0.0027278	71	26028	rs762964151	0.0523	0.0759	0.0521	0.0526	0.1248	0.0519	0.0518	0.1208	0.1191	0.1248	0.0530	0.0891	0.0041	0.0612	0.0599	0.0514	0.0575	0.0356	0.0352	0.0357	0.0355	0.0349	0.0711	0.0344	0.0340	0.0690	0.0681	0.0711	0.0279	0.0338	0.0349	0	0.0165	0.0331	0.0209	0.0335	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	8792.76	13	chr6	123548624	.	TAAA	TAAAA,TA,T	8792.76	.	AC=4,22,2;AF=0.095,0.524,0.048;AN=42;BaseQRankSum=1.10;DP=624;ExcessHet=0.4640;FS=0.510;InbreedingCoeff=0.1491;MLEAC=3,22,2;MLEAF=0.071,0.524,0.048;MQ=60.00;MQRankSum=0.00;QD=24.91;ReadPosRankSum=-2.170e-01;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,11,2:13:14:.:.:414,376,359,52,51,14,270,269,0,251	3	0	1	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	0/1:16,2,0,0,0,0,0:18:5:.:.:5,0,392,53,398,451,53,398,451,451,53,398,451,451,451,53,398,451,451,451,451,53,398,451,451,451,451,451	6	0	4	0
chr6	131884955	131884955	C	A	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon23:c.C2336A:p.T779N,	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	1	1511	10	0	0	10	0.00329815	.	.	428520	Arterial_calcification,_generalized,_of_infancy,_1|Hypophosphatemic_rickets,_autosomal_recessive,_2|not_specified|ENPP1-related_disorder|not_provided	MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	0.91	P	0.689	P	0.433	N	1.000	N	2.42	M	-0.31	T	-0.883	T	0.211	T	0.237	2.742	15.13	1.7	0.842	0.237	4.462	0.185	0.0245535435166	0.0002	0.00139776	0.0010	9.614e-05	0.0003	0	0	0.0002	0.0022	0.0058	0.0008279	128	154602	rs200239821	0.0005	0.0005	0.0004	0.0007	0.0061	0.0005	0.0005	0.0057	0.0055	2.987e-05	0.0003	0.0002	2.52e-05	0	0.0026	0.0002	0.0006	0.0061	0.0004	0.0004	0.0003	0.0005	0.0050	0.0003	0.0003	0.0034	0.0029	2.406e-05	0	0.0003	0.0003	0	0	0	0.0004	0	0.0050	0.145	0.25154	T	0.613	0.07617	T	0.91	0.50240	P	0.689	0.53736	P	0.433422	0.12719	N	0.762914	1	0.08975	N	2.65	0.77586	M	-0.31	0.68030	T	-2.74	0.58248	D	0.411	0.45142	-0.8833	0.49497	T	0.211	0.57094	T	10	0.012332797	0.00265	T	0.024554	0.47547	T	0.185	0.45933	.	.	0.733563502752	0.73118	0.6520419703673228	0.65140	0.472247107215	0.46463	0.347620487213	0.17572	T	0.318532	0.68989	T	-0.407891	0.02053	T	-0.355933	0.38523	T	0.0838672315043058	0.10474	T	0.80472	0.45238	T	0.10048092	0.23725	0.11755571	0.28378	0.105115004	0.24851	0.11144083	0.26880	-7.702	0.59022	D	0.1819362267335076	0.23485	0.070	0.03301	B	.;.	.;.	2.378295	0.30526	18.46	0.9847300759697758	0.41884	0.12669	0.17409	N	AEFBI	0.122179	0.23721	N	0.123710445788398	0.47572	2.980933	0.0283881060863032	0.41039	2.458924	0.00348457779299174	0.10140	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.91	1.7	0.23359	0.161000	0.16298	-0.042000	0.12656	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.984000	0.60418	0.1511:0.484:0.0:0.3649	4.462	0.11090	824	0.40336	DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease;DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease	.	.	.	.	.	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	1077.98	34	chr6	131884955	.	C	A	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.389;DP=777;ExcessHet=0.0000;FS=4.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=0.516;SOR=1.154	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1092,0,1066	20	0	1	0
chr6	135318527	135318527	G	A	exonic	AHI1	.	nonsynonymous SNV	AHI1:NM_001134830:exon24:c.C3418T:p.P1140S	Joubert syndrome-3, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	212518	not_specified|not_provided|Joubert_syndrome_3|Intellectual_disability|Familial_aplasia_of_the_vermis	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012078,MedGen:C1837713,OMIM:608629,Orphanet:220493|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.0	B	0.279	N	0.998	N	0	N	0.5	T	-1.094	T	0.033	T	0.213	-1.094	0.149	-7.2	-1.534	-0.747	10.319	0.120	0.00650288920072	0.0004	0.000599042	0.0006	0	0.0004	0	0	0.0012	0.0023	0.0001	0.000414	64	154602	rs201148693	0.0006	0.0006	0.0006	0.0006	0.0045	0.0006	0.0006	0.0032	0.0027	0.0002	0.0003	3.915e-05	0	0	0.0045	0.0007	0.0008	0.0002	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0003	9.628e-05	0	0.0004	0	0	0	0.0034	0.0005	0.0005	0.0006	0.479	0.08261	T	0.63	0.07196	T	0.0	0.02946	B	0.0	0.01387	B	0.279159	0.03822	N	1.510780	1	0.08975	N	0.205	0.09354	N	0.5	0.55608	T	-0.83	0.22727	N	0.082	0.05929	-1.0939	0.04914	T	0.033	0.13986	T	10	0.0077154934	0.00175	T	0.006503	0.17129	T	0.120	0.33359	.	.	0.141422826196	0.13715	0.258895103634333	0.25803	0.0419560013884	0.04514	0.256762444973	0.04513	T	0.092154	0.38945	T	-0.543651	0.00318	T	-0.55986	0.16390	T	0.00786599189586697	0.00092	T	0.492651	0.15191	T	0.017409606	0.00270	0.033326175	0.02208	0.019890152	0.00530	0.033309903	0.02205	-3.032	0.10530	T	.	.	0.064	0.01622	B	.;.;.	.;.;.	-0.133289	0.03447	0.635	0.28779562652994067	0.01494	0.11183	0.16464	N	AEFDBCI	0.043903	0.06998	N	-1.50319662682461	0.01829	0.08017732	-1.5158115935974	0.02222	0.1018837	0.999987440767777	0.51787	0.638212	0.43195	0	0.588066	0.40923	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.22	-7.2	0.01345	-0.597000	0.05809	-0.025000	0.12872	-0.127000	0.13314	0.835000	0.30208	0.045000	0.21693	0.055000	0.15596	0.7279:0.0:0.167:0.1052	10.319	0.42935	434	0.80536	.;.;.	.	.	.	.	.	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	0	0.02381	1959.98	45	chr6	135318527	.	G	A	1959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=923;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.31;ReadPosRankSum=-1.250e-01;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,56:128:99:0|1:135318506_C_T:1974,0,2613:135318506	20	0	1	0
chr6	152268082	152268082	C	T	exonic	SYNE1	.	synonymous SNV	SYNE1:NM_033071:exon99:c.G18576A:p.S6192S	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	274788	not_provided|Emery-Dreifuss_muscular_dystrophy|Cerebellar_ataxia|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant	MedGen:C3661900|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000998403	0.0002	0.0020	0.0003	0	0	0	0	0.0003	0.0002393	37	154602	rs150905950	9.372e-05	9.371e-05	8.168e-05	0.0001	0.0021	8.093e-05	7.585e-05	0.0017	0.0016	0.0021	0.0003	0	0	0	0	7.195e-06	0.0001	0.0004	0.0006	0.0006	0.0007	0.0004	0.0020	0.0005	0.0004	0.0016	0.0015	0.0020	0	0.0001	0	0	0	0	0	0	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	1	1	0.02381	1120.98	33	chr6	152268082	.	C	T	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=0.169;SOR=0.719	GT:AD:DP:GQ:PL	0/1:59,48:107:99:1135,0,1402	20	0	1	0
chr6	152444592	152444592	A	-	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	10	181	22	1	12	36	0.0621762	.	.	299490	Emery-Dreifuss_muscular_dystrophy|not_provided|not_specified|Cerebellar_ataxia|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1541	.	0.2126	0.1732	0.2234	0.1883	0.1712	0.2367	0.2051	0.1702	0.0038036	99	26028	rs111322292	0.0628	0.0977	0.0627	0.0629	0.0670	0.0624	0.0622	0.0665	0.0663	0.0432	0.0570	0.0605	0.0220	0.0519	0.0324	0.0670	0.0577	0.0443	0.0325	0.0325	0.0346	0.0304	0.0449	0.0318	0.0315	0.0436	0.0430	0.0220	0.0067	0.0268	0.0310	0.0026	0.0209	0.0071	0.0449	0.0350	0.0261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	724.4	37	chr6	152444591	.	GA	G	724.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.092e+00;DP=800;ExcessHet=1.1607;FS=1.157;InbreedingCoeff=-0.1352;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=3.89;ReadPosRankSum=-1.180e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/1:16,22:38:99:501,0,338	16	0	5	0
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A	.	.	426	313	516	267	0	1050	0.626492	.	.	29790	SUPEROXIDE_DISMUTASE_2_POLYMORPHISM|Microvascular_complications_of_diabetes,_susceptibility_to,_6	.|MONDO:MONDO:0012970,MedGen:C2675128,OMIM:612634	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.73	T	0.024	B	0.014	B	0.003	N	0.812	P	.	.	2.8	T	-0.931	T	0.008	T	0.209	1.174	9.777	3.08	0.205	2.565	9.062	0.048	.	0.4731	0.410743	0.5024	0.4521	0.6492	0.1596	0.5033	0.5162	0.4902	0.5375	0.0001153	3	26028	rs4880	0.4921	0.4920	0.4930	0.4912	0.6131	0.4912	0.4908	0.6070	0.6045	0.4286	0.6131	0.5060	0.1309	0.4807	0.4419	0.5013	0.4763	0.5191	0.4704	0.4704	0.4750	0.4656	0.5368	0.4675	0.4663	0.5271	0.5231	0.4245	0.4901	0.5368	0.5193	0.1435	0.4668	0.4658	0.5033	0.4693	0.5118	0.926	0.09806	T	0.979	0.20680	T	0.024	0.19075	B	0.014	0.16862	B	0.003125	0.35389	N	0.321860	1	0.28987	P	.	.	.	2.8	0.17923	T	0.35	0.06138	N	0.034	0.02964	-0.9308	0.44021	T	0.008	0.02679	T	8	3.9671322e-05	0.00008	T	.	.	.	0.048	0.13305	.	.	.	.	0.24148455001478597	0.24062	0.559626915364	0.52497	0.639073014259	0.58432	T	0.006216	0.10632	T	-0.680986	0.00047	T	-0.607145	0.12218	T	0.00926767202390716	0.00118	T	0.00962761	0.00101	T	0.019719824	0.00509	0.04335931	0.05377	0.019719824	0.00508	0.04335931	0.05376	-2.567	0.10127	T	.	.	0.065	0.07412	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.792224	0.11628	8.214	0.81617120455707348	0.13775	0.13403	0.17836	N	ALL	0.032084	0.03557	N	-0.854084909372284	0.11949	0.5796162	-0.812104859326894	0.14202	0.7408959	0.999999999993235	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.08	0.34576	2.202000	0.42377	4.081000	0.41738	-0.176000	0.10722	0.649000	0.28163	0.999000	0.35428	0.111000	0.18785	0.1374:0.121:0.7416:0.0	9.062	0.35603	725	0.54935	.;.;.;.;.;.;.;.	RP3-393E18.2|MRPL18|RP3-393E18.2|WTAP|MRPL18|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|MRPL18|PNLDC1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2|ACAT2|MRPL18|MRPL18|RP3-393E18.2|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|MRPL18|SOD2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|ACAT2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|RP3-393E18.2|HNRNPH1P1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Brain_Hippocampus|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood	SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|MRPL18	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis	rs4880	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.4524	18083.6	58	chr6	159692840	.	A	G	18083.6	.	AC=19;AF=0.452;AN=42;BaseQRankSum=1.17;DP=1182;ExcessHet=2.1081;FS=0.000;InbreedingCoeff=-0.0572;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=19.59;ReadPosRankSum=0.348;SOR=0.714	GT:AD:DP:GQ:PL	0/1:21,22:43:99:592,0,673	6	4	11	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	2|2:0,0,108:108:99:1|1:170561949_GCAA_G:4383,3582,3395,319,313,0:170561949	1	1	3	2
chr7	4791361	4791361	G	A	exonic	AP5Z1	.	synonymous SNV	AP5Z1:NM_001364858:exon16:c.G1932A:p.R644R	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	.	2	1493	27	0	0	27	0.00896117	.	.	240098	Hereditary_spastic_paraplegia_48|AP5Z1-related_disorder|not_provided|Hereditary_spastic_paraplegia	MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511|.|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0009	0.0002	0.0004	0	0	0.0006	0.0033	0.0029	0.0005692	88	154602	rs368571200	0.0006	0.0006	0.0005	0.0006	0.0055	0.0005	0.0005	0.0040	0.0034	2.996e-05	0.0003	0	0	0	0.0055	0.0005	0.0008	0.0025	0.0003	0.0003	0.0004	0.0003	0.0012	0.0003	0.0002	0.0005	0.0004	9.618e-05	0	0.0001	0	0	0	0.0034	0.0006	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.02381	1150.98	34	chr7	4791361	.	G	A	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.14;ReadPosRankSum=0.580;SOR=0.636	GT:AD:DP:GQ:PL	0/1:34,42:76:99:1165,0,866	20	0	1	0
chr7	6009379	6009379	G	C	exonic;splicing	AIMP2;AIMP2	NM_001326611:exon1:UTR5;NM_001326610:exon1:UTR5;NM_001326606:exon1:c.15+1G>C	nonsynonymous SNV	AIMP2:NM_001326607:exon1:c.G16C:p.V6L	.	.	209	1294	17	2	0	21	0.00804906	.	.	438353	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.084	B	0.04	B	0.000	D	1.000	N	1.485	L	1.35	T	-1.023	T	0.104	T	0.577	3.908	19.88	4.32	1.436	6.011	9.226	0.164	0.0136383768038	0.0011	.	0.0010	0.0005	0.0009	0	0	0.0014	0.0022	0.0010	0.0008797	136	154602	rs139842556	0.0008	0.0008	0.0008	0.0009	0.0060	0.0008	0.0008	0.0042	0.0036	0.0002	0.0006	0.0068	2.519e-05	0	0.0060	0.0007	0.0018	0.0010	0.0007	0.0007	0.0007	0.0006	0.0015	0.0006	0.0005	0.0007	0.0006	9.619e-05	0	0.0003	0.0063	0	0	0	0.0009	0.0009	0.0015	0.403	0.10378	T	0.701	0.21478	T	0.084	0.24799	B	0.04	0.23831	B	0.000101	0.50451	D	0.132373	0.98867	0.81001	D	2.145	0.60081	M	1.35	0.47477	T	0.44	0.03243	N	0.666	0.67477	-1.0228	0.22802	T	0.104	0.38094	T	10	0.008596867	0.00195	T	0.013638	0.33196	T	0.164	0.42212	0.241	0.17371	0.208000267992	0.20380	0.426079331679579	0.42524	0.104321368259	0.11798	0.670198738575	0.62867	T	0.055194	0.29938	T	-0.322761	0.06674	T	-0.286841	0.46101	T	0.0499983138664253	0.05501	T	0.828817	0.49341	T	0.30845335	0.53652	0.24519433	0.50002	0.26894948	0.49966	0.2581928	0.51547	-3.604	0.17915	T	.	.	0.335	0.65001	B	.;.	.;.	4.248658	0.64477	24.7	0.98897719338608125	0.48127	0.99219	0.92988	D	ALL	0.832452	0.75083	D	-0.00739064431365549	0.41520	2.484971	0.1429439305827	0.46769	2.917573	0.999999999999948	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.2	4.32	0.50899	6.139000	0.71482	11.713000	0.94685	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1661:0.0:0.8339:0.0	9.226	0.36569	840	0.37365	AIMP2, lysyl-tRNA synthetase binding domain;AIMP2, lysyl-tRNA synthetase binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4656.11	34	chr7	6009379	.	G	C	4656.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.59;DP=1171;ExcessHet=0.1072;FS=1.113;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=0.169;SOR=0.777	GT:AD:DP:GQ:PL	0/1:121,111:232:99:2724,0,2881	19	0	2	0
chr7	21620069	21620069	G	A	exonic	DNAH11	.	synonymous SNV	DNAH11:NM_001277115:exon25:c.G4491A:p.E1497E,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	4	1516	2	0	0	2	0.000659196	.	.	252694	not_provided|Primary_ciliary_dyskinesia_7|Primary_ciliary_dyskinesia|not_specified	MedGen:C3661900|MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0014	0	0.0001	0	0	3.367e-05	0.0024	0.0094	0.0010284	159	154602	rs564202359	0.0005	0.0005	0.0003	0.0007	0.0083	0.0005	0.0005	0.0077	0.0075	0	0	0	2.564e-05	0	0.0002	3.085e-05	0.0007	0.0083	0.0002	0.0002	0.0001	0.0004	0.0075	0.0002	0.0002	0.0056	0.0049	0	0	0	0	0	0	0	0	0	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	809.98	34	chr7	21620069	.	G	A	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.150e-01;DP=870;ExcessHet=0.0000;FS=0.874;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=1.00;SOR=0.527	GT:AD:DP:GQ:PL	0/1:40,36:76:99:824,0,973	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|1:52,50:102:99:0|1:21867834_G_GT:1943,0,2033:21867834	0	12	9	0
chr7	30598875	30598875	G	A	exonic	GARS1	.	nonsynonymous SNV	GARS1:NM_001316772:exon2:c.G140A:p.R47H	.	.	1	1518	3	0	0	3	0.000987167	.	.	244499	not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2|Neuronopathy,_distal_hereditary_motor,_type_5A|not_specified|Charcot-Marie-Tooth_disease_type_2D	MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MONDO:MONDO:0015353,MedGen:CN031873,OMIM:600794,Orphanet:139536|MedGen:CN169374|MONDO:MONDO:0011091,MedGen:C1832274,OMIM:601472,Orphanet:99938	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.97	D	0.000	D	1.000	D	2.8	M	1.46	T	-0.699	T	0.213	T	0.75	5.002	29.4	5.29	2.662	9.224	14.810	0.335	0.0140297148955	0.0002	0.000199681	0.0004	0	0.0003	0	0	0.0006	0.0011	6.11e-05	0.0003169	49	154602	rs200887429	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	5.975e-05	0.0003	0	0	0	0.0003	0.0003	0.0002	9.275e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0003	0.0002	2.407e-05	0	0.0006	0	0	9.418e-05	0	0.0004	0	0	0.053	0.38863	T	0.353	0.17320	T	1.0	0.90584	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.46	0.32238	T	-4.37	0.77061	D	0.875	0.87265	-0.6986	0.60505	T	0.213	0.57401	T	10	0.5207992	0.62630	D	0.01403	0.33868	T	0.335	0.65718	.	.	0.488820726603	0.48513	0.654980626495586	0.65434	0.574074473097	0.53444	0.672124862671	0.63140	T	0.42117	0.77265	T	-0.14062	0.29791	T	-0.0948287	0.63795	T	0.471969485282898	0.31603	T	0.995845	0.98562	D	0.61523163	0.73508	0.3085908	0.56877	0.61523163	0.73509	0.3085908	0.56876	-12.933	0.89085	D	.	.	0.474	0.63367	A	.	.	5.895561	0.93981	33	0.99946138698159004	0.99901	0.99748	0.99172	D	AEFBI	0.925397	0.90487	D	0.931813702403865	0.93229	11.903	0.889734170197104	0.95109	13.31977	0.999999999999827	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	9.102000	0.93579	9.954000	0.82748	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	14.810	0.69616	738	0.53389	WHEP-TRS domain|WHEP-TRS domain|WHEP-TRS domain|WHEP-TRS 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	1	0	0.02381	841.98	41	chr7	30598875	.	G	A	841.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.870e-01;DP=776;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=1.03;SOR=0.549	GT:AD:DP:GQ:PL	0/1:36,35:71:99:856,0,897	20	0	1	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	0/1:12,10,0:22:99:297,0,286,332,316,649	0	1	3	1
chr7	47808241	47808241	G	A	ncRNA_intronic	C7orf69	.	.	.	.	.	420	1087	13	2	0	17	0.00775901	0.0001	0.02	730496	not_provided|Heterotaxy,_visceral,_8,_autosomal	MedGen:C3661900|MONDO:MONDO:0014967,MedGen:C4310668,OMIM:617205	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.00299521	0.0020	0.0027	0.0006	0.0001	0.0003	0.0026	0.0089	0.0012	0.0020698	320	154602	rs145827073	0.0021	0.0021	0.0021	0.0020	0.0115	0.0020	0.0020	0.0092	0.0084	0.0022	0.0013	0.0056	5.038e-05	0.0003	0.0115	0.0022	0.0021	0.0012	0.0020	0.0020	0.0022	0.0018	0.0025	0.0018	0.0017	0.0022	0.0020	0.0015	0	0.0020	0.0075	0.0002	0.0003	0.0034	0.0025	0.0028	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	994.98	34	chr7	47808241	.	G	A	994.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.360;DP=821;ExcessHet=0.0000;FS=1.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=0.510;SOR=0.961	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1009,0,1280	20	0	1	0
chr7	47821092	47821092	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon46:c.C6949T:p.R2317W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	419	1088	14	1	0	16	0.00729927	.	.	722548	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.986	D	0.007	N	1.000	N	2.045	M	1.94	T	-0.995	T	0.087	T	0.532	2.874	15.58	1.05	-0.019	0.383	13.827	0.107	0.0350360262237	0.0015	0.00199681	0.0018	0.0010	0.0004	0.0003	0.0003	0.0025	0.0089	0.0012	0.0019081	295	154602	rs139293796	0.0020	0.0021	0.0021	0.0020	0.0112	0.0020	0.0020	0.0090	0.0082	0.0009	0.0013	0.0055	2.526e-05	0.0003	0.0112	0.0022	0.0020	0.0012	0.0018	0.0018	0.0019	0.0017	0.0025	0.0016	0.0015	0.0022	0.0021	0.0007	0	0.0015	0.0075	0.0002	0.0003	0.0034	0.0025	0.0028	0.0015	0.003	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.986	0.76916	D	0.006778	0.31811	N	0.175773	1	0.08975	N	2.36	0.67893	M	1.94	0.22678	T	-5.19	0.83625	D	0.545	0.57177	-0.9950	0.31299	T	0.087	0.33634	T	10	0.012393147	0.00266	T	0.035036	0.56079	D	0.107	0.30369	.	.	0.745099471361	0.74281	0.5345255532974426	0.53377	0.497463811139	0.48245	0.279146969318	0.07374	T	0.529557	0.83695	D	-0.437267	0.01342	T	-0.399927	0.33392	T	0.0478573780622542	0.05117	T	0.713829	0.32570	T	0.23060572	0.45819	0.37620524	0.62748	0.23060572	0.45819	0.37620524	0.62747	-7.096	0.54732	T	0.7257097379071875	0.80711	0.163	0.36012	B	.	.	3.704734	0.52853	23.3	0.99729252329224871	0.82619	0.03367	0.08463	N	AEFI	0.069132	0.13670	N	-0.0249142248569835	0.40730	2.423826	-0.219562588434269	0.30835	1.739628	0.754834003598971	0.23417	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.27	1.05	0.19280	0.395000	0.20576	0.923000	0.22720	0.671000	0.69459	0.043000	0.21118	0.546000	0.25442	0.995000	0.73285	0.0:0.0:0.3124:0.6876	13.827	0.62852	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1162.98	42	chr7	47821092	.	G	A	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=784;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.512;SOR=0.824	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1177,0,1016	20	0	1	0
chr7	75986532	75986532	C	T	UTR3	POR	NM_001367562:c.*51C>T;NM_000941:c.*51C>T;NM_001382655:c.*51C>T;NM_001382657:c.*51C>T;NM_001382658:c.*51C>T;NM_001382659:c.*51C>T;NM_001382662:c.*51C>T	.	.	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Autosomal recessive;Disordered steroidogenesis due to cytochrome P450 oxidoreductase	.	10	1484	27	1	0	29	0.00967634	.	.	898398	not_provided|Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency	MedGen:C3661900|MONDO:MONDO:0013310,MedGen:C1860042,OMIM:613571,Orphanet:95699	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0080	0.00499201	.	.	.	.	.	.	.	.	0.0015653	242	154602	rs41302345	0.0121	0.0119	0.0121	0.0120	0.0141	0.0119	0.0118	0.0139	0.0138	0.0020	0.0060	0.0075	0	0.0060	0.0049	0.0141	0.0096	0.0046	0.0077	0.0077	0.0082	0.0072	0.0133	0.0074	0.0072	0.0126	0.0123	0.0022	0	0.0045	0.0084	0	0.0037	0.0034	0.0133	0.0104	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	592.98	39	chr7	75986532	.	C	T	592.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.134;DP=842;ExcessHet=0.0000;FS=5.472;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.00;SOR=0.194	GT:AD:DP:GQ:PL	0/1:23,22:45:99:607,0,695	20	0	1	0
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	2/2:0,0,47:47:99:.:.:1289,1289,1289,141,141,0	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	0/2:27,0,27,0,0,0:54:99:1018,1099,2233,0,1134,1052,1099,2233,1134,2233,1099,2233,1134,2233,2233,1099,2233,1134,2233,2233,2233	0	9	5	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	0/1:25,24:51:99:523,0,573	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	1/1:0,121:121:99:3707,363,0	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	0/1:76,31:107:82:82,0,1306	6	0	15	0
chr7	146116536	146116536	T	-	intergenic	TPK1;CNTNAP2	dist=1280483;dist=657735	.	.	.	.	948	561	1	0	12	13	0.000890472	.	.	310111	not_provided|Cortical_dysplasia-focal_epilepsy_syndrome|Pitt-Hopkins-like_syndrome	MedGen:C3661900|MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MONDO:MONDO:0016377,MedGen:C4751168	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1351342477	0.0508	0.0325	0.0525	0.0492	0.1393	0.0495	0.0490	0.1286	0.1244	0.1393	0.0577	0.0498	0.0481	0.0426	0.0354	0.0463	0.0513	0.0487	0.0297	0.0298	0.0294	0.0299	0.1002	0.0289	0.0286	0.0976	0.0965	0.1002	0	0.0110	0.0003	0.0052	0.0011	0.0037	0.0006	0.0234	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	109.41	6	chr7	146116535	.	AT	ATT,A	109.41	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-1.645e+00;DP=168;ExcessHet=0.0000;FS=2.912;InbreedingCoeff=0.3505;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.088;SOR=1.020	GT:AD:DP:GQ:PL	2/2:0,0,2:2:6:56,56,56,6,6,0	19	0	1	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	0|1:226,120,0:346:99:0|1:10610066_T_C:4223,0,9002,4907,9363,14270:10610066	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	0|1:226,120,0:346:99:0|1:10610066_T_C:4223,0,9002,4907,9363,14270:10610066	3	1	5	0
chr8	125073296	125073296	C	G	exonic	WASHC5	.	nonsynonymous SNV	WASHC5:NM_001330609:exon8:c.G563C:p.R188T	Ritscher-Schinzel syndrome 1, Autosomal recessive;Spastic paraplegia 8, autosomal dominant, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	215375	Hereditary_spastic_paraplegia_8|Ritscher-Schinzel_syndrome|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0011339,MedGen:C1863704,OMIM:603563,Orphanet:100989|MONDO:MONDO:0019078,MedGen:C0796137,OMIM:PS220210,Orphanet:7|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.003	B	0.000	D	0.971	N	-0.55	N	-2.03	D	-0.774	T	0.284	T	0.243	1.876	12.23	4.28	0.898	1.949	12.624	0.202	0.0264280477802	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	0.0001164	18	154602	rs150430170	0.0001	0.0001	9.802e-05	0.0001	0.0024	8.781e-05	8.267e-05	0.0015	0.0012	8.962e-05	2.237e-05	0.0018	0	0	0.0024	5.756e-05	0.0003	0	0.0001	0.0001	0.0001	6.713e-05	0.0001	6.506e-05	5.319e-05	2.847e-05	1.858e-05	0	0	0.0001	0.0023	0	0	0.0034	7.35e-05	0	0	0.229	0.18371	T	0.275	0.22016	T	0.0	0.02946	B	0.003	0.08700	B	0.000268	0.46590	D	0.242248	0.970874	0.25682	N	.	.	.	-2.03	0.85613	D	-1.05	0.28906	N	0.371	0.42149	-0.7737	0.56653	T	0.284	0.65586	T	10	0.030617505	0.01189	T	0.026428	0.49337	D	0.202	0.48754	.	.	0.507093260865	0.50349	0.2681600903688332	0.26729	0.35204900141	0.37038	0.398762196302	0.24896	T	0.39072	0.75082	T	-0.15434	0.27635	T	-0.30311	0.44397	T	0.0282099917531013	0.01719	T	0.835616	0.50622	T	0.10875127	0.25712	0.08388064	0.19257	0.10875127	0.25712	0.08388064	0.19257	-3.349	0.14378	T	0.0956347581104726	0.06530	0.089	0.14706	B	.;.	.;.	1.595944	0.20407	14.73	0.65236399482492513	0.07716	0.51131	0.28824	D	AEFGBCI	0.314210	0.41914	N	-0.829164883260676	0.12568	0.6134681	-0.72861187299972	0.16250	0.858744	0.999996829989629	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	4.28	0.50183	2.004000	0.40474	2.239000	0.31595	0.599000	0.40250	0.020000	0.19661	0.075000	0.22287	0.731000	0.35132	0.0:0.8674:0.0:0.1326	12.624	0.55977	688	0.59122	.;.	.	.	.	.	.	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	0	0	0	0	0.02381	1424.98	65	chr8	125073296	.	C	G	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=1062;ExcessHet=0.0000;FS=2.474;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=2.32;SOR=1.005	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1439,0,1577	20	0	1	0
chr8	132480670	132480670	-	C	UTR5	KCNQ3	NM_004519:c.-139_-138insG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	.	75	142	3	2	4	11	0.024055	.	.	313038	Benign_neonatal_seizures|not_provided|Benign_Neonatal_Epilepsy	MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900|MedGen:C0270851	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs879019805	0.0992	0.0754	0.0988	0.0996	0.1176	0.0985	0.0982	0.1020	0.0992	0.0987	0.0472	0.0809	0.0113	0.0962	0.1176	0.1002	0.0951	0.1026	0.0916	0.0897	0.0944	0.0887	0.1035	0.0902	0.0896	0.1013	0.1004	0.0952	0.0571	0.0558	0.0762	0.0041	0.0991	0.1106	0.1035	0.0927	0.0911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2331.15	20	chr8	132480670	.	A	AC,ACC	2331.15	.	AC=7,8;AF=0.167,0.190;AN=42;BaseQRankSum=0.059;DP=417;ExcessHet=0.8717;FS=11.366;InbreedingCoeff=0.1346;MLEAC=7,8;MLEAF=0.167,0.190;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-5.200e-02;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:9,0,7:16:99:0|1:132480670_A_ACC:218,245,603,0,358,337:132480670	9	0	7	0
chr8	132480670	132480670	-	CC	UTR5	KCNQ3	NM_004519:c.-139_-138insGG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	.	75	142	3	2	4	11	0.024055	.	.	307908	Benign_Neonatal_Epilepsy|Benign_neonatal_seizures|not_provided	MedGen:C0270851|MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008068	21	26028	rs879019805	0.1321	0.1013	0.1313	0.1330	0.1680	0.1314	0.1311	0.1626	0.1604	0.1407	0.1001	0.1405	0.0618	0.1292	0.1494	0.1314	0.1335	0.1680	0.1700	0.1748	0.1676	0.1725	0.2214	0.1680	0.1672	0.2089	0.2038	0.1562	0.0893	0.1840	0.2043	0.0990	0.1830	0.2250	0.1740	0.1618	0.2214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2331.15	20	chr8	132480670	.	A	AC,ACC	2331.15	.	AC=7,8;AF=0.167,0.190;AN=42;BaseQRankSum=0.059;DP=417;ExcessHet=0.8717;FS=11.366;InbreedingCoeff=0.1346;MLEAC=7,8;MLEAF=0.167,0.190;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-5.200e-02;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:9,0,7:16:99:0|1:132480670_A_ACC:218,245,603,0,358,337:132480670	9	0	7	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	2/2:0,0,35:35:99:1576,1576,1576,106,106,0	2	5	5	0
chr9	6550885	6550885	G	A	exonic	GLDC	.	synonymous SNV	GLDC:NM_000170:exon21:c.C2487T:p.A829A,	Glycine encephalopathy, Autosomal recessive	YES	1	1511	10	0	0	10	0.00329815	.	.	459572	Non-ketotic_hyperglycinemia|not_provided	Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	.	0.0016	0.0005	0.0003	0	0.0011	0.0022	0.0011	0.0019	0.0016882	261	154602	rs141806715	0.0029	0.0029	0.0030	0.0028	0.0035	0.0028	0.0028	0.0034	0.0033	0.0004	0.0007	7.655e-05	0	0.0008	0.0009	0.0035	0.0021	0.0020	0.0021	0.0021	0.0021	0.0022	0.0039	0.0019	0.0018	0.0033	0.0031	0.0006	0	0.0014	0	0	0.0008	0	0.0036	0.0009	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	995.98	33	chr9	6550885	.	G	A	995.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.974;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.932;SOR=0.650	GT:AD:DP:GQ:PL	0/1:36,42:78:99:1010,0,786	20	0	1	0
chr9	34646576	34646579	CAGT	-	upstream	GALT	dist=10	.	.	Galactosemia, Autosomal recessive	.	25	1347	134	16	0	166	0.058042	.	.	36445	Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|Classical_galactosemia,_homozygous_Duarte-type|Inborn_genetic_diseases|not_specified|not_provided	MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239|MedGen:C0268152|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0417332	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs111033640	0.0603	0.0594	0.0596	0.0610	0.0758	0.0599	0.0598	0.0742	0.0735	0.0111	0.0491	0.0510	0.0064	0.0679	0.0472	0.0636	0.0570	0.0758	0.0470	0.0471	0.0472	0.0468	0.0689	0.0461	0.0458	0.0629	0.0622	0.0124	0.1615	0.0491	0.0481	0.0093	0.0672	0.0408	0.0645	0.0445	0.0689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2344.97	19	chr9	34646575	.	CCAGT	C	2344.97	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.870e-01;DP=526;ExcessHet=0.1217;FS=2.119;InbreedingCoeff=0.2221;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=21.32;ReadPosRankSum=0.661;SOR=1.081	GT:AD:DP:GQ:PL	1/1:0,12:12:36:540,36,0	16	1	4	0
chr9	34649445	34649445	A	G	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon8:c.A613G:p.N205D	Galactosemia, Autosomal recessive	YES	0	1107	372	43	0	458	0.171407	.	.	18652	GALT-related_disorder|Galactosemia|not_provided|GALT_POLYMORPHISM_(DUARTE,_D2)|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase	.|Human_Phenotype_Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352|MedGen:C3661900|.|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.024	N	1.000	N	-0.855	N	-5.41	D	-0.345	T	0.089	T	0.357	0.357	5.939	4.4	1.256	1.578	7.829	0.382	.	0.0715	0.0728834	0.0920	0.0237	0.0572	0.0076	0.1131	0.0945	0.1289	0.1832	0.0897013	13868	154602	rs2070074	0.0956	0.0956	0.0927	0.0986	0.1801	0.0952	0.0950	0.1777	0.1767	0.0230	0.0656	0.1134	0.0067	0.1077	0.1130	0.0945	0.0966	0.1801	0.0748	0.0749	0.0737	0.0760	0.1732	0.0737	0.0732	0.1634	0.1595	0.0239	0.2264	0.0709	0.1086	0.0108	0.1101	0.0850	0.0952	0.0794	0.1732	1.0	0.00964	T	0.7	0.05727	T	0.0	0.02946	B	0.0	0.01387	B	0.023682	0.26395	N	0.363282	1	0.08975	N	-1.335	0.00675	N	-5.41	0.99076	D	0.69	0.02558	N	0.104	0.08786	-0.3448	0.73705	T	0.089	0.34216	T	10	0.0015891492	0.00018	T	.	.	.	0.382	0.69946	.	.	.	.	0.6107519334601241	0.61007	0.0529846633455	0.05838	0.494998365641	0.38132	T	0.531105	0.83775	D	-0.320467	0.06859	T	-0.0892856	0.64216	T	0.0011724377910854	0.00011	T	0.607439	0.22904	T	0.115712315	0.27301	0.081687234	0.18585	0.12176597	0.28627	0.085849494	0.19850	-2.233	0.04204	T	0.05973314454148825	0.01594	0.066	0.02313	B	.;.	.;.	2.301558	0.29454	18.13	0.77100449014328254	0.11737	0.33342	0.24805	N	AEFBI	0.235241	0.35787	N	-0.807690574731224	0.13113	0.6437672	-0.543084349204827	0.20989	1.133386	0.999962452380944	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	4.4	0.52402	1.735000	0.37800	6.631000	0.56152	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.3139:0.0:0.6861:0.0	7.829	0.28496	327	0.86637	.;Galactose-1-phosphate uridyl transferase, C-terminal	GALT|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|GALT|IL11RA|IL11RA|CNTFR-AS1|IL11RA|GALT|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|RP11-195F19.9|RPP25L|GALT|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|TRBV26OR9-2|RP11-384P7.7|RPP25L|IL11RA|RP11-195F19.9|GALT|IL11RA|GALT|IL11RA|IL11RA|RPP25L|IL11RA|RP11-195F19.9|CNTFR-AS1|GALT|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RPP25L|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	GALT|GALT|GALT|GALT|GALT|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|GALT|GALT|GALT|GALT|GALT|CCL27|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Uterus|Vagina|Whole_Blood	rs2070074	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	0	0	1	0	0.1905	9063.88	35	chr9	34649445	.	A	G	9063.88	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-1.310e-01;DP=1240;ExcessHet=0.5418;FS=0.523;InbreedingCoeff=0.0735;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.307;SOR=0.754	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2192,225,0	14	1	6	0
chr9	36966691	36966691	G	A	exonic	PAX5	.	nonsynonymous SNV	PAX5:NM_001280551:exon5:c.C314T:p.S105L	.	.	415	1105	2	0	0	2	0.000904159	.	.	138740	Leukemia,_acute_lymphoblastic,_susceptibility_to,_3|not_specified|not_provided	MONDO:MONDO:0014241,MedGen:C3809874,OMIM:615545|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.997	D	0.974	D	0.004	N	1.000	D	2.37	M	1.3	T	1.103	D	0.955	D	0.672	2.901	15.66	5.51	2.568	5.616	19.428	0.605	0.292988438015	0.0009	.	0.0007	0.0003	0.0003	0	0	0.0010	0.0011	0.0002	0.0006598	102	154602	rs137870876	0.0010	0.0010	0.0011	0.0010	0.0013	0.0010	0.0010	0.0012	0.0012	0.0002	0.0003	0	0	9.362e-05	0.0002	0.0013	0.0008	0.0003	0.0006	0.0006	0.0008	0.0004	0.0011	0.0005	0.0005	0.0009	0.0009	0.0001	0.0033	0.0001	0	0	0	0	0.0011	0.0005	0.0004	0.006	0.78490	D	0.049	0.79402	D	0.458	0.45525	P	0.017	0.37636	B	0.004009	0.34221	N	0.289697	0.999765	0.53665	D	2.215	0.62545	M	-4.26	0.98096	D	-4.13	0.83422	D	0.425	0.48319	1.103	0.99785	D	0.955	0.98531	D	10	0.25095463	0.42428	T	0.292988	0.90627	D	0.605	0.84452	.	.	0.910647563361	0.90974	0.5859175941848557	0.58521	0.907193985159	0.70892	0.731673717499	0.71751	T	0.53234	0.83839	D	0.0277112	0.55417	T	0.216588	0.84002	D	0.0788527879035309	0.09839	T	0.968203	0.88631	D	0.28643358	0.51659	0.25361952	0.51013	0.25854483	0.48904	0.27562985	0.53499	-12.155	0.85967	D	.	.	0.102	0.40473	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	5.133881	0.85920	28.7	0.99858115849424778	0.93639	0.89486	0.49981	D	AEFDBHCI	0.692559	0.65218	D	0.44761216933599	0.64068	4.653191	0.505466564131464	0.68358	5.208961	0.999999669254193	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.51	5.51	0.81769	5.661000	0.67694	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.343000	0.25501	0.0:0.0:1.0:0.0	19.428	0.94743	850	0.35610	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	1006.98	37	chr9	36966691	.	G	A	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=789;ExcessHet=0.0000;FS=0.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-5.490e-01;SOR=0.844	GT:AD:DP:GQ:PL	0/1:39,40:79:99:1021,0,926	20	0	1	0
chr9	136676978	136676978	G	A	exonic	AGPAT2	.	nonsynonymous SNV	AGPAT2:NM_001012727:exon3:c.C475T:p.R159C	Lipodystrophy, congenital generalized, type 1, Autosomal recessive	.	0	1476	45	1	0	47	0.0156719	.	.	207659	Monogenic_diabetes|not_specified|not_provided|AGPAT2-related_disorder|Congenital_generalized_lipodystrophy_type_1	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594,Orphanet:528	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.995	D	0.86	P	0.293	N	0.982	D	2.655	M	-3.25	D	0.563	D	0.794	D	0.298	2.921	15.73	2.66	0.978	2.180	6.900	0.583	0.376081266076	0.0042	0.00299521	0.0055	0.0006	0.0045	0	0.0023	0.0069	0.0090	0.0079	0.0052522	812	154602	rs142993240	0.0052	0.0051	0.0051	0.0054	0.0200	0.0051	0.0051	0.0170	0.0158	0.0009	0.0053	0.0113	0	0.0021	0.0200	0.0052	0.0062	0.0075	0.0045	0.0045	0.0045	0.0045	0.0081	0.0042	0.0041	0.0061	0.0055	0.0014	0	0.0057	0.0102	0	0.0014	0.0274	0.0062	0.0081	0.0081	0.04	0.42199	D	0.133	0.34359	T	0.994	0.67487	D	0.827	0.61233	P	0.293250	0.14730	N	0.654070	0.98209	0.39852	D	1.885	0.50048	L	-3.25	0.93532	D	-1.31	0.39119	N	0.334	0.42345	0.563	0.91414	D	0.794	0.93025	D	10	0.013234198	0.00281	T	0.376081	0.92861	D	0.583	0.83249	.	.	0.98728440208	0.98714	0.550509138554867	0.54976	0.675783368987	0.59728	0.304822176695	0.11124	T	0.634862	0.88730	D	-0.242284	0.15060	T	-0.116936	0.62053	T	0.0146335427042857	0.00302	T	0.835916	0.50694	T	0.27577108	0.50640	0.1912488	0.42572	0.36025938	0.57856	0.18649092	0.41824	-4.821	0.75123	T	.	.	0.199	0.45653	B	.;.;.	.;.;.	4.247194	0.64440	24.7	0.99853759363083971	0.93279	0.84552	0.43635	D	AEFDGBHCI	0.891524	0.82756	D	0.394959614047973	0.61147	4.312139	0.283211928081487	0.54560	3.62051	0.999983192290523	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.570548	0.19454	0	0.741806	0.99463	0	.	.	4.75	2.66	0.30672	2.855000	0.48032	2.028000	0.30240	0.676000	0.76740	1.000000	0.71638	0.638000	0.25900	0.318000	0.24924	0.0:0.1308:0.3813:0.488	6.900	0.23456	952	0.10565	Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase;Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase|1-acyl-sn-glycerol-3-phosphate acyltransferase;Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase|1-acyl-sn-glycerol-3-phosphate acyltransferase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1170.98	42	chr9	136676978	.	G	A	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.590e-01;DP=797;ExcessHet=0.0000;FS=1.919;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=0.698;SOR=0.442	GT:AD:DP:GQ:PL	0/1:31,51:82:99:1185,0,640	20	0	1	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	.	1265	97	26	134	0	294	0.602459	.	.	322826	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	1/1:0,4:4:12:113,12,0	2	14	5	0
chr10	23193706	23193706	T	C	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon2:c.T787C:p.S263P,	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	.	277	416	362	467	0	1296	0.609023	.	.	135501	Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2|not_specified|not_provided|Permanent_neonatal_diabetes_mellitus|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome	MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.022	B	0.011	B	0.000	N	0.002	P	1.78	L	-3.56	D	-0.925	T	0.000	T	0.081	2.924	15.74	3.02	0.367	4.098	9.307	0.357	.	0.5108	0.624401	0.5470	0.5697	0.7022	0.8903	0.4327	0.4864	0.5430	0.5350	0.523195	80887	154602	rs7918487	0.4938	0.4962	0.4927	0.4948	0.8378	0.4928	0.4924	0.8302	0.8271	0.5601	0.6724	0.5597	0.8378	0.4417	0.6054	0.4672	0.5268	0.5353	0.5240	0.5241	0.5217	0.5264	0.8799	0.5210	0.5197	0.8585	0.8498	0.5578	0.4215	0.5843	0.5542	0.8799	0.4411	0.6327	0.4725	0.5375	0.5558	0.035	0.43708	D	0.009	0.66756	D	0.022	0.18677	B	0.011	0.15521	B	0.000012	0.62929	N	0.068790	0.00248586	0.43951	P	1.18	0.29980	L	-3.56	0.94869	D	-2.27	0.50666	N	0.06	0.03175	-0.9246	0.44915	T	0.000	0.00011	T	9	7.2453116e-07	0.00003	T	.	.	.	0.357	0.67782	.	.	.	.	0.8029689689293238	0.80250	.	.	0.808061718941	0.83195	D	0.245918	0.61529	T	-0.418964	0.01736	T	-0.230769	0.51698	T	0.0349258213578647	0.02795	T	0.630137	0.24490	T	0.42178693	0.62210	0.62976736	0.78405	0.41815445	0.61969	0.6288712	0.78357	-5.729	0.43950	T	0.22715938275925626	0.30707	0.161	0.35643	B	.	.	3.140397	0.42469	21.5	0.98917447264891534	0.48491	0.98167	0.80181	D	AEFDBCI	0.815195	0.73723	D	-0.175553205708038	0.34153	1.946079	-0.064842511773185	0.36855	2.150201	0.999832780372402	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.34	3.02	0.33970	4.083000	0.57365	2.832000	0.35027	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.500000	0.29017	0.0:0.1441:0.0:0.8559	9.307	0.37045	833	0.38804	.	C10orf67|C10orf67|ARMC3|MSRB2|C10orf67|C10orf67|C10orf67|C10orf67	Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	C10orf67	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	1	0	0.7381	16735.53	37	chr10	23193706	.	T	C	16735.53	.	AC=31;AF=0.738;AN=42;BaseQRankSum=1.78;DP=712;ExcessHet=0.0338;FS=0.000;InbreedingCoeff=0.3842;MLEAC=31;MLEAF=0.738;MQ=60.00;MQRankSum=0.00;QD=28.90;ReadPosRankSum=-6.150e-01;SOR=0.760	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1257,105,0	3	13	5	0
chr10	90918982	90918989	AAATAAAT	-	intronic	ANKRD1	.	.	.	.	.	842	616	50	14	0	78	0.059542	.	.	54796	Dilated_Cardiomyopathy,_Dominant|Congenital_total_pulmonary_venous_return_anomaly|not_specified|Cardiomyopathy|ANKRD1-related_dilated_cardiomyopathy	MedGen:CN239310|Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN119551	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1838	0.3784	0.3143	0.2641	0.1161	0.1255	0.1525	0.1698	0.0018442	48	26028	rs397517250	0.0199	0.0488	0.0191	0.0206	0.1341	0.0197	0.0196	0.1295	0.1277	0.1341	0.0713	0.0184	0.0619	0.0178	0.0225	0.0121	0.0216	0.0519	0.0059	0.0292	0.0057	0.0060	0.0067	0.0055	0.0053	0.0060	0.0057	0.0060	0.0017	0.0034	0.0032	0.0062	0.0064	0.0051	0.0067	0.0016	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	445.33	35	chr10	90918981	.	AAAATAAAT	A	445.33	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.261;DP=692;ExcessHet=0.0000;FS=23.679;InbreedingCoeff=0.4478;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=9.28;ReadPosRankSum=-4.920e-01;SOR=3.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,5:39:98:0|1:90918981_AAAATAAAT_A:98,0,1409:90918981	19	1	1	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	323868	not_specified|not_provided|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy	MedGen:CN169374|MedGen:C3661900|.|MedGen:CN239310|MedGen:CN230736|Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33249.08	59	chr10	90918983	.	AATAAATAAATATATATATATATAT	AATATAT,*,A	33249.08	.	AC=26,3,2;AF=0.619,0.071,0.048;AN=42;BaseQRankSum=0.327;DP=952;ExcessHet=0.0338;FS=8.387;InbreedingCoeff=0.3293;MLEAC=27,3,2;MLEAF=0.643,0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=29.53;ReadPosRankSum=1.87;SOR=0.104	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,34,5,0:39:98:1|0:90918981_AAAATAAAT_A:1754,216,98,1438,0,1409,1704,214,1436,1690:90918981	3	10	5	0
chr10	117209504	117209504	-	T	exonic	KCNK18	.	frameshift insertion	KCNK18:NM_181840:exon3:c.361dupT:p.Y121Lfs*44,	.	.	417	1090	14	1	0	16	0.00728597	.	.	227335	Migraine,_with_or_without_aura,_susceptibility_to,_13|not_provided	MONDO:MONDO:0013344,MedGen:C4225479,OMIM:613656|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	0.00319489	0.0028	0.0001	0.0005	0.0029	0	9.194e-05	0.0033	0.0178	0.002335	361	154602	rs1085307076	0.0015	0.0015	0.0009	0.0021	0.0193	0.0014	0.0014	0.0186	0.0182	8.962e-05	0.0004	0	0.0085	0	0.0019	4.497e-05	0.0017	0.0193	0.0008	0.0008	0.0004	0.0012	0.0195	0.0007	0.0006	0.0163	0.0152	7.22e-05	0	0.0003	0	0.0021	0	0	4.41e-05	0.0014	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2935.94	41	chr10	117209504	.	C	CT	2935.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.64;DP=975;ExcessHet=0.0000;FS=7.919;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.248;SOR=1.113	GT:AD:DP:GQ:PL	0/1:162,100:262:99:2950,0,5254	20	0	1	0
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	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	1/1:0,26:26:78:723,78,0	1	15	5	0
chr11	824624	824624	A	G	exonic	PNPLA2	.	nonsynonymous SNV	PNPLA2:NM_020376:exon10:c.A1277G:p.N426S,	Neutral lipid storage disease with myopathy, Autosomal recessive	.	0	1518	4	0	0	4	0.00131579	.	.	425945	not_provided|Neutral_lipid_storage_myopathy	MedGen:C3661900|MONDO:MONDO:0012545,MedGen:C1853136,OMIM:610717,Orphanet:98908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.005	B	0.003	B	0.006	N	0.926	N	0.435	N	1.54	T	-0.974	T	0.022	T	0.009	-0.127	3.377	-3.83	-0.854	0.354	12.088	0.039	0.00683594951044	0.0016	0.000798722	0.0022	0.0013	0.0012	0.0002	0	0.0032	0.0027	0.0013	0.0010608	164	154602	rs140634178	0.0020	0.0020	0.0020	0.0020	0.0024	0.0019	0.0019	0.0023	0.0023	0.0005	0.0006	7.735e-05	2.551e-05	0.0002	0.0004	0.0024	0.0020	0.0008	0.0012	0.0012	0.0012	0.0012	0.0020	0.0011	0.0010	0.0017	0.0016	0.0006	0.0022	0.0010	0	0.0004	0	0	0.0020	0.0009	0.0006	0.506	0.07594	T	0.649	0.06762	T	0.005	0.12996	B	0.003	0.08700	B	0.005751	0.32538	N	0.351400	0.926257	0.27173	N	0.615	0.15706	N	1.54	0.30133	T	0.11	0.05706	N	0.03	0.00717	-0.9738	0.36387	T	0.022	0.09284	T	10	0.005394697	0.00118	T	0.006836	0.18065	T	0.039	0.10176	.	.	0.110078149338	0.10416	0.08222978001075408	0.08157	0.176759458968	0.19889	0.503060936928	0.39254	T	0.110864	0.42590	T	-0.686335	0.00044	T	-0.765434	0.02921	T	0.00331642030222193	0.00035	T	0.734627	0.35069	T	0.01713363	0.00248	0.029928904	0.01387	0.014671594	0.00103	0.028322564	0.01058	-2.053	0.03388	T	.	.	0.054	0.00315	B	.	.	-0.575701	0.01639	0.114	0.32044130761332185	0.01837	0.28718	0.23630	N	AEFDBHCI	0.069475	0.13753	N	-1.42650996599508	0.02408	0.1062897	-1.35272457139168	0.03774	0.1767301	0.999749547647046	0.42466	0.706548	0.73137	0	0.643519	0.57511	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.59	-3.83	0.03988	0.486000	0.22048	0.667000	0.20560	-0.904000	0.02305	0.985000	0.35982	0.969000	0.29651	0.043000	0.14563	0.4846:0.0:0.5154:0.0	12.088	0.53005	878	0.29785	.	.	.	.	.	.	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	0	0	0.02381	743.98	37	chr11	824624	.	A	G	743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=897;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.66;ReadPosRankSum=1.15;SOR=0.663	GT:AD:DP:GQ:PL	0/1:46,31:77:99:758,0,1113	20	0	1	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	.	21	72	439	990	0	2419	0.943816	.	.	326978	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	1/1:0,168:168:99:.:.:4980,504,0	1	12	8	0
chr11	2587620	2587620	G	T	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon9:c.G1179T:p.K393N	Atrial fibrillation, familial, 3, Autosomal dominant;Jervell and Lange-Nielsen syndrome, Autosomal recessive;Long QT syndrome 1, Autosomal dominant;Short QT syndrome 2, Autosomal dominant	YES	1	1497	22	2	0	26	0.00860927	.	.	77916	Cardiovascular_phenotype|Cardiac_arrhythmia|Long_QT_syndrome_1|Congenital_long_QT_syndrome|not_specified|not_provided|Short_QT_syndrome_type_2|Atrial_fibrillation,_familial,_3|Jervell_and_Lange-Nielsen_syndrome_1|Long_QT_syndrome|Cardiomyopathy	MedGen:CN230736|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:0100316,MedGen:C4551647,OMIM:192500,Orphanet:101016,Orphanet:768|MONDO:MONDO:0019171,MedGen:C1141890,OMIM:PS192500,Orphanet:101016,Orphanet:768|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012313,MedGen:C1865019,OMIM:609621,Orphanet:51083|MONDO:MONDO:0011857,MedGen:C1837014,OMIM:607554|MONDO:MONDO:0024540,MedGen:C4551509,OMIM:220400,Orphanet:768,Orphanet:90647|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.19	T	0.77	P	0.5	P	0.000	N	0.991	D	1.82	L	-5.74	D	0.849	D	0.939	D	0.514	0.472	6.560	0.592	0.157	0.373	4.895	0.554	0.267829732212	0.0007	0.000599042	0.0011	0.0003	0.0014	0	0.0008	0.0012	0.0022	0.0015	0.0010349	160	154602	rs12720457	0.0008	0.0008	0.0007	0.0009	0.0080	0.0008	0.0007	0.0061	0.0055	0.0007	0.0015	0.0025	0	0.0006	0.0080	0.0006	0.0012	0.0017	0.0006	0.0006	0.0005	0.0007	0.0015	0.0005	0.0005	0.0007	0.0005	0.0001	0	0.0009	0.0020	0	0.0006	0.0068	0.0007	0.0005	0.0015	0.174	0.22486	T	0.193	0.31833	T	0.77	0.43887	P	0.5	0.47649	P	0.000000	0.84330	N	0.049620	0.983504	0.41186	D	2.16	0.60381	M	-5.83	0.99392	D	-2.25	0.50337	N	0.805	0.80083	0.849	0.95010	D	0.939	0.98006	D	10	0.026480198	0.00813	T	0.26783	0.89762	D	0.554	0.81601	0.823	0.93527	0.904958230561	0.90401	0.8615672957541449	0.86120	0.440487623201	0.44055	0.651963949203	0.60264	T	0.764798	0.93657	D	-0.141053	0.29723	T	0.00559607	0.70698	D	0.0175471631554296	0.00488	T	0.80302	0.45008	T	0.41296875	0.61620	0.15783057	0.36887	0.4878025	0.66372	0.21849662	0.46553	-8.727	0.65923	D	0.3174439766005681	0.41551	0.422	0.60751	A	.;.;.	.;.;.	3.121519	0.42144	21.5	0.96064174600266095	0.28602	0.78620	0.38816	D	AEFDBI	0.278446	0.39273	N	-0.597937330864264	0.19007	0.9914156	-0.593143438029263	0.19671	1.056447	0.00633602430930672	0.11191	0.676563	0.55306	0	0.588015	0.36545	0	0.673471	0.61138	0	0.613276	0.41899	0	.	.	4.72	0.592	0.16654	0.568000	0.23326	0.435000	0.18365	-0.633000	0.04490	1.000000	0.71638	0.982000	0.30508	0.229000	0.22707	0.3486:0.1533:0.4981:0.0	4.895	0.13100	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	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	1	0	0.02381	1623.98	34	chr11	2587620	.	G	T	1623.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.270e-01;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=-6.420e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/1:78,70:148:99:1638,0,1919	20	0	1	0
chr11	5227172	5227172	G	A	upstream	HBB	dist=101	.	.	Delta-beta thalassemia, Autosomal dominant;Erythremias, beta- (3);Heinz body anemias, beta-, Autosomal dominant;Hereditary persistence of fetal hemoglobin, Autosomal dominant;Methemoglobinemias, beta- (3);Sickle cell anemia, Autosomal recessive;Thalassemia-beta, dominant inclusion-body;Thalassemias, beta-	YES	295	1223	4	0	0	4	0.00163265	.	.	30500	beta_Thalassemia|Beta-thalassemia_HBB/LCRB|HBB-related_disorder|Beta-plus-thalassemia|Hereditary_persistence_of_fetal_hemoglobin|Hb_SS_disease|Heinz_body_anemia|alpha_Thalassemia|Dominant_beta-thalassemia|Erythrocytosis,_familial,_6|METHEMOGLOBINEMIA,_BETA_TYPE|Malaria,_susceptibility_to|not_provided	MONDO:MONDO:0019402,MedGen:C0005283,Orphanet:848|MONDO:MONDO:0013517,MedGen:CN322236,OMIM:613985|MedGen:CN239378|MedGen:C3841475|MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749|MONDO:MONDO:0011382,MedGen:C0002895,OMIM:603903,Orphanet:232|Human_Phenotype_Ontology:HP:0005511,MONDO:MONDO:0007705,MedGen:C0700299,OMIM:140700,Orphanet:178330|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846|MONDO:MONDO:0011381,MedGen:C1858990,OMIM:603902,Orphanet:231226,Orphanet:848|MONDO:MONDO:0054801,MedGen:C4693822,OMIM:617980|MedGen:C1840779,OMIM:617971|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs63751208	0.0001	0.0001	8.105e-05	0.0001	0.0017	8.226e-05	7.391e-05	0.0006	0.0003	0	2.925e-05	0	0	0	0.0017	0.0001	0.0001	0.0001	6.571e-05	6.567e-05	6.424e-05	6.725e-05	0.0001	3.517e-05	2.616e-05	7.908e-05	5.994e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	403.0	18	chr11	5227172	.	G	A	403.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.42;DP=480;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.48;SOR=1.055	GT:AD:DP:GQ:PL	0/1:19,12:31:99:417,0,652	20	0	1	0
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	.	9	194	657	662	0	1981	0.836218	.	.	319487	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	1/1:0,59:59:99:1877,177,0	3	9	9	0
chr11	17386949	17386949	C	T	exonic	KCNJ11	.	synonymous SNV	KCNJ11:NM_000525:exon1:c.G1143A:p.K381K	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	.	0	1452	68	2	0	72	0.0241935	.	.	168861	Maturity-onset_diabetes_of_the_young_type_13|not_provided|Hyperinsulinemia|Hyperinsulinemic_hypoglycemia,_familial,_2|Permanent_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_3|not_specified	MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0156	0.00439297	0.0126	0.0039	0.0067	0	0.0058	0.0188	0.0140	0.0056	0.0129364	2000	154602	rs8175351	0.0186	0.0187	0.0190	0.0183	0.0218	0.0185	0.0184	0.0216	0.0215	0.0037	0.0087	0.0210	2.52e-05	0.0055	0.0201	0.0218	0.0170	0.0054	0.0127	0.0128	0.0139	0.0115	0.0210	0.0122	0.0121	0.0201	0.0197	0.0043	0	0.0101	0.0207	0.0002	0.0029	0.0204	0.0210	0.0184	0.0052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3322.11	80	chr11	17386949	.	C	T	3322.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.078;DP=1401;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.13;ReadPosRankSum=0.964;SOR=0.686	GT:AD:DP:GQ:PL	0/1:34,63:97:99:1610,0,727	19	0	2	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	1/1:0,57:57:99:1919,171,0	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	1/1:0,31:31:93:1000,93,0	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	0/1:6,7:13:99:250,0,171	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	1/1:0,58:58:99:1721,174,0	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	1/1:0,8:8:24:254,24,0	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	1/1:0,32:32:96:1239,96,0	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	1/1:0,48:48:99:1680,144,0	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	1/1:0,66:66:99:2024,198,0	1	14	6	0
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	8	536	705	273	0	1251	0.538528	.	.	167532	not_specified|Hereditary_hyperinsulinism|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Permanent_neonatal_diabetes_mellitus|not_provided|Cerebral_edema|Diabetes_mellitus,_permanent_neonatal_3	MedGen:CN169374|.|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4587	0.429912	0.4311	0.4812	0.3021	0.2844	0.4180	0.4470	0.4546	0.5041	0.426075	65872	154602	rs1799857	0.4459	0.4459	0.4447	0.4471	0.4959	0.4450	0.4446	0.4920	0.4904	0.4747	0.3195	0.4445	0.3087	0.4107	0.4108	0.4535	0.4380	0.4959	0.4417	0.4417	0.4437	0.4395	0.4867	0.4389	0.4377	0.4745	0.4722	0.4801	0.3516	0.3803	0.4438	0.3002	0.4127	0.3537	0.4459	0.4296	0.4867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.4762	39176.3	120	chr11	17430945	.	G	A	39176.3	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.597;DP=2193;ExcessHet=0.2144;FS=0.599;InbreedingCoeff=0.2364;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=20.49;ReadPosRankSum=0.183;SOR=0.749	GT:AD:DP:GQ:PL	1/1:0,149:149:99:4404,447,0	7	6	8	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	1/1:0,259:259:99:7690,775,0	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	1/1:0,8,0:8:24:292,24,0,292,24,292	2	7	0	7
chr11	71435840	71435840	C	G	splicing	DHCR7	NM_001163817:exon9:c.964-1G>C;NM_001360:exon9:c.964-1G>C	.	.	Smith-Lemli-Opitz syndrome, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	1.0000	0.936	99628	Smith-Lemli-Opitz_syndrome|DHCR7-related_disorder|Global_developmental_delay|not_provided|See_cases|Inborn_genetic_diseases	MONDO:MONDO:0010035,MedGen:C0175694,OMIM:270400,Orphanet:818|.|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	D	.	.	-5.86	D	0.877	D	0.968	D	0.293	3.873	19.68	5.08	2.363	6.811	15.943	0.557	.	0.0054	0.00259585	0.0042	0.0030	0.0016	0	0.0018	0.0068	0.0015	7.154e-05	0.003758	581	154602	rs138659167	0.0078	0.0077	0.0082	0.0074	0.0094	0.0077	0.0076	0.0092	0.0091	0.0013	0.0019	0.0121	0	0.0016	0.0003	0.0094	0.0066	0.0001	0.0042	0.0042	0.0048	0.0037	0.0068	0.0040	0.0039	0.0063	0.0061	0.0017	0	0.0023	0.0127	0	0.0018	0	0.0068	0.0057	0.0002	0.001	0.78490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-5.86	0.99406	D	0.01	0.06868	N	.	.	0.877	0.95365	D	0.968	0.98972	D	6	0.009255409	0.00209	T	.	.	.	0.557	0.81774	.	.	0.888143595402	0.88703	.	.	.	.	.	.	.	0.281177	0.65389	T	0.289476	0.82113	D	0.65	0.98035	D	0.0244085802813395	0.01197	T	0.265773	0.04346	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.43366	B	.	.	5.881037	0.93930	33	0.99432579493505502	0.64325	0.97362	0.74270	D	AEFDBCI	0.775278	0.70874	D	1.08993767821549	0.97943	17.08289	0.928480279191329	0.96698	15.02707	0.999999898606532	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	6.890000	0.75451	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:1.0:0.0:0.0	15.943	0.79559	649	0.63102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	783.98	69	chr11	71435840	.	C	G	783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.920e-01;DP=1668;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=0.327;SOR=0.680	GT:AD:DP:GQ:PL	0/1:36,31:67:99:798,0,974	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	1/1:0,247:247:99:8014,742,0	10	3	8	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	0/1:37,24:61:99:454,0,1001	6	0	15	0
chr12	6072363	6072363	G	A	exonic	VWF	.	synonymous SNV	VWF:NM_000552:exon9:c.C1077T:p.P359P,	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	1509	13	0	0	13	0.00428901	.	.	318213	Hereditary_von_Willebrand_disease|not_provided	MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00139776	0.0010	0.0003	0.0010	0	0.0003	0.0007	0	0.0038	0.0009832	152	154602	rs71582884	0.0007	0.0007	0.0006	0.0008	0.0049	0.0007	0.0006	0.0037	0.0035	0.0001	0.0010	0.0004	0	9.364e-05	0.0049	0.0005	0.0010	0.0040	0.0006	0.0006	0.0006	0.0006	0.0029	0.0005	0.0005	0.0018	0.0014	0.0001	0	0.0009	0.0006	0	0.0002	0	0.0008	0.0019	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1253.98	35	chr12	6072363	.	G	A	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.622;DP=781;ExcessHet=0.0000;FS=1.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=1.16;SOR=0.898	GT:AD:DP:GQ:PL	0/1:52,53:105:99:1268,0,1164	20	0	1	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	.	0	177	7	42	0	91	0.204494	.	.	778118	not_provided|Rhizomelic_chondrodysplasia_punctata_type_5|Peroxisome_biogenesis_disorder_2A_(Zellweger)|Peroxisome_biogenesis_disorder_2B	MedGen:C3661900|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.268e-05	0.0004	0	0	0	1.945e-05	0	0	3.84e-05	1	26028	rs757612863	0.2520	0.2523	0.2418	0.2624	0.7201	0.2513	0.2511	0.7131	0.7102	0.2717	0.3801	0.4508	0.7201	0.5171	0.2871	0.1987	0.3556	0.3579	0.5401	0.6749	0.5600	0.5186	0.6619	0.5362	0.5345	0.6379	0.6282	0.4367	0.4674	0.5855	0.6481	0.6619	0.4898	0.5586	0.6009	0.5226	0.2956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9718.96	34	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	9718.96	.	AC=24;AF=0.571;AN=42;BaseQRankSum=1.05;DP=1226;ExcessHet=0.0000;FS=8.661;InbreedingCoeff=0.8056;MLEAC=24;MLEAF=0.571;MQ=59.48;MQRankSum=-7.280e-01;QD=26.25;ReadPosRankSum=-9.330e-01;SOR=0.198	GT:AD:DP:GQ:PL	1/1:0,11:11:50:530,50,0	8	11	2	0
chr12	76346369	76346369	G	A	exonic	BBS10	.	nonsynonymous SNV	BBS10:NM_024685:exon2:c.C1616T:p.P539L,	Bardet-Biedl syndrome 10, Autosomal recessive	.	4	1146	322	50	0	422	0.15549	.	.	177141	not_specified|not_provided|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_10	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.0	B	0.788	N	1.000	N	1.355	L	-1.87	D	-0.939	T	0.062	T	0.044	-1.423	0.021	0.792	0.038	0.335	8.240	0.124	.	0.0551	0.0335463	0.0647	0.0125	0.0371	0.0001	0.0635	0.0792	0.0762	0.0918	0.0598699	9256	154602	rs35676114	0.0746	0.0746	0.0731	0.0761	0.1413	0.0742	0.0741	0.1333	0.1300	0.0125	0.0384	0.0794	0.0005	0.0596	0.1413	0.0791	0.0763	0.0957	0.0555	0.0556	0.0554	0.0557	0.0914	0.0545	0.0541	0.0844	0.0816	0.0144	0.0757	0.0501	0.0801	0.0004	0.0662	0.1156	0.0799	0.0602	0.0914	0.453	0.08917	T	0.369	0.16522	T	0.001	0.07471	B	0.0	0.01387	B	0.787526	0.09423	N	0.883658	1	0.08975	N	0.03	0.08032	N	-1.87	0.84415	D	-1.63	0.39119	N	0.033	0.00882	-0.9391	0.42759	T	0.062	0.25923	T	10	0.0018639565	0.00025	T	.	.	.	0.124	0.34239	.	.	.	.	0.2679530290946429	0.26708	0.0586897436536	0.06515	0.213595598936	0.00973	T	0.322653	0.69364	T	-0.575935	0.00204	T	-0.528887	0.19398	T	0.00279913554226781	0.00029	T	0.450755	0.12737	T	0.025135	0.01417	0.038665097	0.03786	0.0298414	0.02545	0.040621962	0.04432	-3.808	0.20924	T	0.09762239229038064	0.06889	0.08	0.07793	B	.;.	.;.	-0.019470	0.04151	0.994	0.61837539723277835	0.06809	0.05604	0.11509	N	AEFDBCIJ	0.043003	0.06745	N	-0.895660138183266	0.10945	0.5256198	-0.942612549275817	0.11094	0.5631424	0.999917383432791	0.45857	0.706298	0.61202	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.95	0.792	0.17769	0.305000	0.19006	1.034000	0.23503	0.676000	0.76740	0.000000	0.06391	0.338000	0.24408	0.027000	0.12703	0.4803:0.0:0.5197:0.0	8.240	0.30816	953	0.10115	.;.	BBS10|BBS10|BBS10|OSBPL8	Cells_Cultured_fibroblasts|Esophagus_Mucosa|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs35676114	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	1	0	0.1667	14060.55	34	chr12	76346369	.	G	A	14060.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.237;DP=1596;ExcessHet=2.5830;FS=0.521;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.628;SOR=0.773	GT:AD:DP:GQ:PL	0/1:65,79:144:99:2240,0,1723	14	0	7	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	0/1:61,65:126:99:1619,0,1470	4	9	8	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	0/1:78,83:161:99:2050,0,1939	4	6	11	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|1:16,29,0,0:45:99:0|1:23320605_T_G:1170,0,565,1218,652,1870,1218,652,1870,1870:23320605	2	3	7	0
chr13	23889281	23889281	C	T	exonic	MIPEP	.	nonsynonymous SNV	MIPEP:NM_005932:exon1:c.G40A:p.A14T,	Combined oxidative phosphorylation deficiency 31, Autosomal recessive	.	426	1088	7	1	0	9	0.00411899	.	.	1017740	Inborn_genetic_diseases|not_provided|Lethal_left_ventricular_non-compaction-seizures-hypotonia-cataract-developmental_delay_syndrome	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014976,MedGen:C4310661,OMIM:617228,Orphanet:478049	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.012	B	0.015	B	0.072	N	1.000	N	0.69	N	2.91	T	-0.971	T	0.025	T	0.284	1.973	12.55	2.83	0.667	-0.816	10.862	0.037	0.00391740716445	0.0001	.	0.0034	0	0	0	.	0.0059	0	0	3.88e-05	6	154602	rs367730807	0.0008	0.0008	0.0008	0.0008	0.0103	0.0008	0.0008	0.0078	0.0070	0.0003	0.0010	0.0001	0	2.486e-05	0.0103	0.0009	0.0006	0.0011	0.0007	0.0007	0.0008	0.0007	0.0014	0.0006	0.0006	0.0012	0.0011	0.0002	0	0.0004	0	0	9.413e-05	0.0102	0.0014	0.0005	0.0002	0.113	0.28772	T	0.256	0.23298	T	0.012	0.16265	B	0.015	0.17295	B	0.072432	0.02265	N	2.141050	1	0.08975	N	0.895	0.22405	L	2.91	0.10008	T	-0.12	0.08809	N	0.269	0.30461	-0.9712	0.36946	T	0.025	0.10598	T	10	0.0056168735	0.00125	T	0.003917	0.09242	T	0.037	0.09474	.	.	0.0666544352282	0.05500	0.30943449715191595	0.30856	0.0868075944168	0.09792	0.661522388458	0.61628	T	0.028438	0.20599	T	-0.556128	0.00268	T	-0.596244	0.13130	T	0.0675089817170043	0.08298	T	0.678032	0.28700	T	0.036876928	0.04622	0.078144796	0.17476	0.036876928	0.04622	0.078144796	0.17475	-6.226	0.48133	T	.	.	0.210	0.43788	B	.	.	0.787682	0.11578	8.172	0.99100370590243236	0.52446	0.05180	0.10999	N	ALL	0.042747	0.06672	N	-0.953314997850535	0.09618	0.4560167	-0.955816166354092	0.10788	0.5456336	0.999999999967143	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.72	2.83	0.32150	-0.782000	0.04749	-0.472000	0.08972	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.297000	0.24428	0.0:0.7487:0.2513:0.0	10.862	0.46038	391	0.83213	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	737.98	34	chr13	23889281	.	C	T	737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-01;DP=754;ExcessHet=0.0000;FS=2.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=2.64;SOR=0.899	GT:AD:DP:GQ:PL	0/1:23,32:55:99:752,0,528	20	0	1	0
chr14	23419114	23419114	-	G	intronic	MYH7	.	.	.	Cardiomyopathy, dilated, 1S, Autosomal dominant;Cardiomyopathy, hypertrophic, 1, Autosomal dominant;Laing distal myopathy, Autosomal dominant;Left ventricular noncompaction 5, Autosomal dominant;Myopathy, myosin storage, autosomal dominant, Autosomal dominant;Myopathy, myosin storage, autosomal recessive, Autosomal recessive;Scapuloperoneal syndrome, myopathic type, Autosomal dominant	.	26	775	566	155	0	876	0.361088	.	.	45302	not_provided|Primary_familial_hypertrophic_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337061	.	.	.	.	.	.	.	.	0.0472115	7299	154602	rs34598192	0.3369	0.3402	0.3403	0.3337	0.6339	0.3361	0.3357	0.6261	0.6230	0.6339	0.1960	0.3975	0.0549	0.2711	0.3041	0.3586	0.3420	0.2235	0.4076	0.4081	0.4199	0.3948	0.6311	0.4049	0.4038	0.6247	0.6221	0.6311	0.4068	0.2827	0.3834	0.0797	0.2623	0.3103	0.3624	0.4006	0.2148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	11312.51	41	chr14	23419114	.	T	TG	11312.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-6.730e-01;DP=1170;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=17.01;ReadPosRankSum=0.641;SOR=0.688	GT:AD:DP:GQ:PL	0/1:42,38:80:99:1293,0,1437	14	0	7	0
chr14	45159081	45159082	TA	-	intronic	FANCM	.	.	.	.	.	112	1082	255	73	0	401	0.156335	.	.	254944	Premature_ovarian_failure_15|Spermatogenic_failure_28|not_specified|Fanconi_anemia|not_provided	MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MedGen:CN169374|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1649	0.118211	0.2866	0.1333	0.3837	0.3597	0.2824	0.2839	0.3018	0.2884	0.0001153	3	26028	rs112326758	0.1122	0.1201	0.1094	0.1149	0.1935	0.1117	0.1115	0.1908	0.1897	0.0401	0.1465	0.1445	0.1311	0.1270	0.1417	0.1046	0.1161	0.1935	0.0911	0.0910	0.0895	0.0928	0.1830	0.0898	0.0893	0.1730	0.1690	0.0383	0.1634	0.1126	0.1321	0.1180	0.1093	0.1103	0.1032	0.1164	0.1830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5150.84	36	chr14	45159080	.	TTA	T	5150.84	.	AC=8;AF=0.190;AN=42;BaseQRankSum=0.323;DP=609;ExcessHet=0.5418;FS=0.476;InbreedingCoeff=0.0735;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=20.77;ReadPosRankSum=0.470;SOR=0.733	GT:AD:DP:GQ:PL	0/1:7,12:19:99:403,0,198	14	1	6	0
chr14	88840883	88840883	A	G	exonic	TTC8	.	nonsynonymous SNV	TTC8:NM_001366535:exon3:c.A254G:p.K85R	Bardet-Biedl syndrome 8, Autosomal recessive	.	0	1473	45	4	0	53	0.0176726	.	.	193761	not_specified|Bardet-Biedl_syndrome_8|not_provided|Bardet-Biedl_syndrome|Retinitis_pigmentosa	MedGen:CN169374|MONDO:MONDO:0014436,MedGen:C1859566,OMIM:615985,Orphanet:110|MedGen:C3661900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.73	T	0.865	P	0.824	P	0.000	D	1.000	D	0.29	N	-1.02	T	-0.968	T	0.106	T	0.372	1.455	10.81	5.09	1.903	4.963	14.859	0.138	.	0.0032	0.0071885	0.0059	0.0006	0.0030	0	0.0005	0.0040	0.0122	0.0240	0.005595	865	154602	rs150880478	0.0047	0.0047	0.0040	0.0053	0.0232	0.0046	0.0045	0.0223	0.0220	0.0005	0.0035	0.0008	0	0.0006	0.0177	0.0038	0.0050	0.0232	0.0035	0.0035	0.0034	0.0036	0.0263	0.0033	0.0032	0.0226	0.0212	0.0007	0	0.0042	0.0014	0	0.0006	0.0238	0.0042	0.0057	0.0263	0.574	0.08660	T	1.0	0.08808	T	0.003	0.12996	B	0.003	0.16862	B	0.000000	0.84330	D	0.048705	0.998721	0.81001	D	0.63	0.15941	N	-1.07	0.76948	T	-0.35	0.17210	N	0.13	0.24135	-0.9675	0.37713	T	0.106	0.38734	T	10	0.007837504	0.00178	T	.	.	.	0.349	0.67049	.	.	0.815756240397	0.81402	0.32855384335387705	0.32768	0.469398045918	0.46249	0.551525473595	0.46072	T	0.04129	0.25811	T	-0.327425	0.06309	T	-0.225514	0.52205	T	0.0430550078249923	0.04247	T	0.871513	0.70013	D	.	.	.	.	.	.	.	.	-3.003	0.10213	T	.	.	0.066	0.04002	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.496810	0.32224	18.98	0.98253644681263119	0.39594	0.87280	0.46771	D	AEFDGBI	0.523395	0.54702	D	0.121874717811164	0.47484	2.973543	0.232126589072069	0.51640	3.344667	0.999999556930636	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	4.991000	0.63616	9.335000	0.80166	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	14.859	0.69997	410	0.82135	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0	0	1	0	0.04762	7561.11	33	chr14	88840883	.	A	G	7561.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=1280;ExcessHet=0.1072;FS=1.769;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-8.740e-01;SOR=0.567	GT:AD:DP:GQ:PL	0/1:154,140:294:99:3364,0,3900	19	0	2	0
chr15	45111502	45111502	C	G	exonic	DUOX2	.	synonymous SNV	DUOX2:NM_001363711:exon6:c.G597C:p.S199S	Thyroid dyshormonogenesis 6, Autosomal recessive	YES	2	1502	16	2	0	20	0.00661376	.	.	739646	not_specified|not_provided|Thyroid_dyshormonogenesis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0012	0.0037	0	0.0024	0	0.0008	0	0.0013	0.0008837	23	26028	rs2467828	0.0013	0.0013	0.0013	0.0013	0.0061	0.0013	0.0013	0.0043	0.0036	0.0017	0.0008	0.0001	0	0.0001	0.0061	0.0014	0.0015	0.0020	0.0015	0.0015	0.0016	0.0013	0.0018	0.0013	0.0012	0.0014	0.0013	0.0018	0	0.0014	0	0.0002	0	0	0.0016	0.0038	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1915.11	36	chr15	45111502	.	C	G	1915.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=785;ExcessHet=0.1072;FS=8.872;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.80;MQRankSum=-4.732e+00;QD=17.57;ReadPosRankSum=1.90;SOR=0.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,22:40:99:0|1:45111501_C_T:870,0,690:45111501	19	0	2	0
chr15	53523331	53523332	AG	-	intronic	WDR72	.	.	.	Amelogenesis imperfecta, type IIA3, Autosomal recessive	.	14	784	401	71	252	795	0.257224	.	.	340892	not_provided|Amelogenesis_Imperfecta,_Recessive|WDR72-related_disorder	MedGen:C3661900|MedGen:CN239209|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2306	0.2143	0.2694	0.3617	0.1755	0.2088	0.2154	0.2560	0.0028913	447	154602	rs112552047	0.0994	0.1689	0.0975	0.1014	0.2643	0.0989	0.0987	0.2589	0.2567	0.1268	0.1416	0.1098	0.2643	0.1076	0.0653	0.0894	0.1105	0.1377	0.0150	0.0172	0.0147	0.0154	0.0702	0.0145	0.0143	0.0642	0.0618	0.0283	0.0077	0.0060	0.0015	0.0702	0.0031	0.0034	0.0057	0.0146	0.0399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	13790.18	34	chr15	53523330	.	AAG	AAGAG,AAGAGAG,A	13790.18	.	AC=3,12,1;AF=0.071,0.286,0.024;AN=42;BaseQRankSum=0.00;DP=1235;ExcessHet=0.3152;FS=0.576;InbreedingCoeff=0.1923;MLEAC=3,12,1;MLEAF=0.071,0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=21.82;ReadPosRankSum=0.452;SOR=0.796	GT:AD:DP:GQ:PL	0/2:16,2,20,2:40:99:779,589,1051,0,491,594,776,1036,484,1348	9	0	0	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	1/1:0,136:136:99:3864,408,0	0	21	0	0
chr15	65077762	65077762	A	C	exonic	KBTBD13	.	nonsynonymous SNV	KBTBD13:NM_001101362:exon1:c.A947C:p.D316A,	Nemaline myopathy 6, autosomal dominant, Autosomal dominant	.	0	1517	5	0	0	5	0.00164528	.	.	643471	Nemaline_myopathy_6|Inborn_genetic_diseases	MONDO:MONDO:0012237,MedGen:C1836472,OMIM:609273,Orphanet:171439|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.82	T	0.009	B	0.007	B	.	.	0.999	D	1.445	L	-0.13	T	-0.898	T	0.172	T	0.486	2.176	13.23	5.15	1.937	2.308	14.657	0.240	0.0832456286377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021462149	2.245e-05	2.257e-05	1.671e-05	2.827e-05	0.0007	1.624e-05	1.39e-05	0.0002	0.0001	0.0002	0.0001	0	0	0	0.0007	1.091e-05	5.065e-05	1.201e-05	5.264e-05	5.256e-05	5.145e-05	5.388e-05	0.0002	2.56e-05	1.832e-05	5.287e-05	2.835e-05	2.416e-05	0	0.0002	0	0	0	0	5.886e-05	0	0	0.13	0.26740	T	0.116	0.36497	T	0.009	0.15093	B	0.007	0.12992	B	.	.	.	.	0.998746	0.45372	D	1.79	0.46772	L	-0.13	0.64818	T	-3.09	0.63438	D	0.342	0.38335	-0.8979	0.48205	T	0.172	0.51452	T	9	0.20484588	0.36691	T	0.083246	0.74075	D	0.240	0.54500	0.552	0.66856	0.486920840936	0.48326	0.7054532993511943	0.70487	0.688145502748	0.60419	0.79730707407	0.81553	T	0.106374	0.41767	T	-0.195131	0.21509	T	-0.26976	0.47845	T	0.0451927643841116	0.04637	T	0.435056	0.11905	T	0.20360999	0.42443	0.30230767	0.56263	0.20360999	0.42443	0.30230767	0.56262	-3.008	0.10267	T	0.4514104127042629	0.53514	0.243	0.47773	B	.	.	3.304751	0.45380	22.1	0.96789735759385143	0.31105	0.88086	0.47862	D	AEFDBCI	0.506756	0.53734	D	-0.3367308330111	0.27763	1.525826	-0.179421584374864	0.32294	1.83587	0.999999890058061	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.15	5.15	0.70287	2.348000	0.43701	7.676000	0.65050	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.821000	0.38685	1.0:0.0:0.0:0.0	14.657	0.68447	315	0.87208	.	.	.	.	.	.	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	0.04762	2119.11	82	chr15	65077762	.	A	C	2119.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.17;DP=2038;ExcessHet=0.1072;FS=40.643;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=1.63;SOR=2.825	GT:AD:DP:GQ:PL	0/1:63,37:100:99:1033,0,1608	19	0	2	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	1/2:0,2,2:4:70:.:.:149,70,78,84,0,78	0	4	2	3
chr15	72376139	72376139	C	T	ncRNA_exonic	HEXA-AS1	.	.	.	.	.	91	1408	21	2	0	25	0.00879972	.	.	341267	not_provided|Tay-Sachs_disease	MedGen:C3661900|MONDO:MONDO:0010100,MedGen:C0039373,OMIM:272800,Orphanet:845	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0209665	.	.	.	.	.	.	.	.	0.0170201	443	26028	rs77707876	0.0174	0.0166	0.0177	0.0170	0.0850	0.0172	0.0171	0.0825	0.0814	0.0029	0.0067	0.0100	0.0850	0.0126	0.0079	0.0161	0.0195	0.0143	0.0140	0.0141	0.0142	0.0139	0.0785	0.0135	0.0133	0.0722	0.0697	0.0035	0.0132	0.0136	0.0089	0.0785	0.0112	0.0068	0.0160	0.0236	0.0159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	57.06	13	chr15	72376139	.	C	T	57.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.368e+00;DP=214;ExcessHet=0.0000;FS=3.680;InbreedingCoeff=-0.0304;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.15;ReadPosRankSum=0.180;SOR=0.086	GT:AD:DP:GQ:PL	0/1:4,3:7:71:71,0,149	20	0	1	0
chr16	3254626	3254626	C	G	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon2:c.G442C:p.E148Q,	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	YES	2	1242	263	15	0	293	0.10551	.	.	17581	Familial_Mediterranean_fever|Familial_Mediterranean_fever,_autosomal_dominant|not_specified|not_provided|Autoinflammatory_syndrome|Acute_febrile_neutrophilic_dermatosis|Inborn_genetic_diseases|MEFV-related_disorder|See_cases	MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|MeSH:D030342,MedGen:C0950123|.|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.851	P	0.003	N	0.913	P	1.1	L	-1.07	T	-1.103	T	0.000	T	0.597	3.078	16.28	3.44	1.441	1.142	8.711	0.274	.	0.0112	0.126398	0.0900	0.0184	0.0217	0.3150	0.0013	0.0197	0.0716	0.3018	0.0641648	9920	154602	rs3743930	0.0377	0.0376	0.0305	0.0450	0.2802	0.0374	0.0373	0.2772	0.2760	0.0171	0.0133	0.0539	0.2546	0.0019	0.0650	0.0131	0.0511	0.2802	0.0329	0.0330	0.0280	0.0380	0.2988	0.0321	0.0318	0.2860	0.2808	0.0159	0	0.0191	0.0582	0.2795	0.0018	0.0714	0.0127	0.0317	0.2988	0.007	0.59928	D	0.011	0.64786	D	0.995	0.67487	D	0.851	0.60700	P	0.003372	0.35041	N	0.131490	1	0.27475	P	1.83	0.48079	L	-1.07	0.76948	T	-1.3	0.32590	N	0.125	0.11769	-1.1028	0.03768	T	0.000	0.00039	T	9	0.0055573583	0.00123	T	.	.	.	0.274	0.59007	.	.	.	.	0.514001947169189	0.51322	0.534422499708	0.50847	0.454673349857	0.32582	T	0.400125	0.75778	T	-0.397484	0.02405	T	-0.199914	0.54654	T	0.0123424584187742	0.00201	T	0.79572	0.43862	T	0.1393041	0.32184	0.087836124	0.20442	0.12762725	0.29860	0.088540226	0.20650	-4.015	0.24027	T	.	.	0.132	0.28607	B	.	.	2.968483	0.39555	21.0	0.99364470562835017	0.61155	0.13031	0.17624	N	AEFDBI	0.123919	0.23974	N	-0.142306821722336	0.35564	2.044299	-0.309833529502108	0.27781	1.543952	0.999995932073785	0.74766	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.39	3.44	0.38486	0.734000	0.25769	.	.	0.599000	0.40250	0.027000	0.20232	0.930000	0.28522	0.049000	0.15107	0.0:0.898:0.0:0.102	8.711	0.33543	779	0.47767	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	0	0	0	0	0.07143	2702.68	31	chr16	3254626	.	C	G	2702.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.73;DP=824;ExcessHet=0.3300;FS=0.607;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=16.58;ReadPosRankSum=1.44;SOR=0.796	GT:AD:DP:GQ:PL	0/1:21,23:44:99:543,0,526	18	0	3	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	0/1:52,34,10:100:99:633,0,1102,665,908,1996	7	0	5	0
chr16	50710770	50710770	C	T	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.C778T:p.H260Y	Blau syndrome, Autosomal dominant	.	1	1517	4	0	0	4	0.00131666	.	.	335167	Blau_syndrome|Regional_enteritis|Inflammatory_bowel_disease_1	MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.778	P	0.331	B	0.720	N	1.000	N	1.79	L	-0.39	T	-0.849	T	0.228	T	0.097	-0.937	0.365	1.89	0.612	0.283	5.947	0.093	0.0755176424288	.	0.000199681	0.0002	0	0	0	0	9.044e-05	0	0.0012	0.0001682	26	154602	rs560242309	9.577e-05	9.577e-05	5.173e-05	0.0001	0.0011	8.242e-05	7.783e-05	0.0010	0.0009	2.987e-05	2.236e-05	7.652e-05	0	0	0	2.788e-05	9.935e-05	0.0011	8.535e-05	8.53e-05	7.708e-05	9.4e-05	0.0012	4.954e-05	3.96e-05	0.0005	0.0004	0	0	0	0.0003	0	0	0	8.821e-05	0	0.0012	0.247	0.17296	T	0.088	0.40586	T	0.71	0.44187	P	0.331	0.42107	B	0.720452	0.09939	N	0.879276	1	0.08975	N	2.4	0.69460	M	-0.39	0.69158	T	-0.48	0.15379	N	0.287	0.32481	-0.8491	0.52031	T	0.228	0.59334	T	10	0.015672088	0.00329	T	0.075518	0.72308	D	0.093	0.26882	0.394	0.41935	0.85122213326	0.84978	0.2950484620605109	0.29417	0.174343088039	0.19631	0.361590087414	0.19617	T	0.139405	0.47341	T	-0.477495	0.00765	T	-0.504216	0.21911	T	0.0380062216289892	0.03332	T	0.621038	0.23867	T	0.048267987	0.08386	0.055599783	0.09783	0.055156253	0.10680	0.05544129	0.09725	-5.165	0.39033	T	0.151687570851949	0.17913	0.081	0.08224	B	.;.	.;.	-0.181879	0.03184	0.523	0.69058281142014677	0.08851	0.09273	0.15062	N	AEFDBI	0.161868	0.28797	N	-0.470339698370466	0.23056	1.235474	-0.595641457302444	0.19605	1.05266	0.999960056352405	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.62	1.89	0.24700	0.407000	0.20770	0.069000	0.14235	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.5928:0.0:0.4072	5.947	0.18460	701	0.57775	.;.	.	.	.	.	.	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	0	0.02381	1205.98	33	chr16	50710770	.	C	T	1205.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.200e-02;DP=1317;ExcessHet=0.0000;FS=2.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.383;SOR=0.476	GT:AD:DP:GQ:PL	0/1:62,49:111:99:1220,0,1672	20	0	1	0
chr16	50711957	50711957	G	T	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.G1965T:p.L655F	Blau syndrome, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	341657	Blau_syndrome|Regional_enteritis|Inflammatory_bowel_disease_1|not_provided	MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.007	N	0.998	D	2.965	M	-1.41	T	0.376	D	0.671	D	0.546	3.090	16.32	3.63	1.386	0.210	8.806	0.534	0.478993356709	0.0002	0.000199681	0.0005	0	8.657e-05	0	0	0.0003	0	0.0022	0.0003687	57	154602	rs149002807	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0002	0.0015	0.0014	2.987e-05	0.0002	7.667e-05	0	0	0.0019	9.626e-05	0.0002	0.0018	0.0001	0.0001	0.0001	9.393e-05	0.0012	7.083e-05	5.741e-05	0.0005	0.0004	0	0	6.53e-05	0.0003	0	0	0	0.0001	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.007265	0.31496	N	0.129081	0.997575	0.44002	D	3.32	0.90714	M	-1.41	0.80560	T	-3.47	0.67824	D	0.42	0.45992	0.376	0.88743	D	0.671	0.88583	D	10	0.077540606	0.12250	T	0.478993	0.94809	D	0.534	0.80426	0.416	0.45544	0.893543592845	0.89249	0.5707385127607776	0.57001	0.487261875694	0.47556	0.625223755836	0.56467	T	0.529774	0.83706	D	-0.203846	0.20251	T	-0.072372	0.65457	T	0.191812233418415	0.19951	T	0.79872	0.44372	T	0.51463276	0.67950	0.5295364	0.72817	0.46760502	0.65143	0.5512331	0.74051	-6.16	0.47598	T	0.2522952636463176	0.34135	0.179	0.42200	B	.;.	.;.	2.715124	0.35499	19.91	0.99871678565668276	0.94902	0.59307	0.30879	D	AEFDGBHCI	0.291368	0.40251	N	0.528859531212123	0.68803	5.267871	0.434616700632308	0.63737	4.61332	0.999998963700742	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.74	3.63	0.40741	0.257000	0.18137	3.261000	0.37092	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.940000	0.48062	0.0:0.2805:0.5649:0.1546	8.806	0.34100	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1543.98	33	chr16	50711957	.	G	T	1543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=896;ExcessHet=0.0000;FS=4.929;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=-1.080e-01;SOR=0.354	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1558,0,1388	20	0	1	0
chr16	50722863	50722863	C	T	intronic	NOD2	.	.	.	Blau syndrome, Autosomal dominant	.	16	1252	227	27	0	281	0.100898	.	.	19736	not_provided|Blau_syndrome|Autoinflammatory_syndrome|Inflammatory_bowel_disease_1|Yao_syndrome	MedGen:C3661900|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0517173	.	.	.	.	.	.	.	.	0.129207	3363	26028	rs5743289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1091	0.1091	0.1147	0.1032	0.1748	0.1077	0.1071	0.1721	0.1710	0.0313	0.1568	0.1115	0.1343	0.0008	0.0590	0.1190	0.1748	0.1409	0.0295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	488.73	11	chr16	50722863	.	C	T	488.73	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.33;DP=274;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0780;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.596;SOR=0.997	GT:AD:DP:GQ:PL	0/1:6,6:12:99:177,0,150	18	0	3	0
chr16	89816593	89816593	T	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon1:c.A23G:p.N8S	Fanconi anemia, complementation group A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	401943	Fanconi_anemia|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.94	T	0.001	B	0.003	B	0.167	N	1.000	N	0	N	0.27	T	-0.772	T	0.190	T	0.159	1.036	9.234	-8.45	-1.694	-3.615	2.011	0.071	0.588627036516	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs757468756	3.346e-05	3.352e-05	2.445e-05	4.268e-05	3.806e-05	2.565e-05	2.294e-05	2.831e-05	2.548e-05	0	0	0	0	0	0	3.806e-05	8.725e-05	0	3.949e-05	3.942e-05	3.86e-05	4.041e-05	7.359e-05	1.718e-05	1.131e-05	2.849e-05	1.86e-05	0	0	6.546e-05	0	0	0	0	7.359e-05	0	0	0.575	0.06282	T	0.781	0.20944	T	0.0	0.07471	B	0.001	0.08700	B	0.166706	0.03079	N	2.015170	1	0.08975	N	-0.345	0.03330	N	-1.7	0.83241	D	0.33	0.08653	N	0.095	0.10056	-0.7720	0.56748	T	0.190	0.54227	T	10	0.10909128	0.20336	T	0.588627	0.96338	D	0.071	0.20720	0.069	0.00373	0.60758616937	0.60443	0.05718368353854332	0.05659	.	.	0.638113498688	0.58295	T	0.054128	0.29635	T	-0.258583	0.13066	T	-0.428917	0.30057	T	0.0551954920542101	0.06390	T	0.651035	0.26183	T	0.03018734	0.02639	0.027294872	0.00872	0.03018734	0.02638	0.027294872	0.00872	-0.824	0.00916	T	.	.	0.063	0.03661	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.305878	0.00050	0.001	0.57143828860252588	0.05705	0.02245	0.06508	N	AEFGBHCIJ	0.029413	0.02771	N	-1.76110767003549	0.00648	0.02793268	-1.84342595581323	0.00630	0.02799102	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.22	-8.45	0.00826	-4.844000	0.00208	-14.423000	0.00404	-1.227000	0.01331	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1112:0.2231:0.3309:0.3348	2.011	0.03276	588	0.69043	.;.;.;.;.;.	.	.	.	.	.	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	0	0	0.02381	266.98	35	chr16	89816593	.	T	C	266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.997;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.36;ReadPosRankSum=-6.530e-01;SOR=0.782	GT:AD:DP:GQ:PL	0/1:29,13:42:99:281,0,744	20	0	1	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	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	0/1:45,32:81:99:118,0,785	4	0	16	1
chr17	18127112	18127112	C	T	exonic	MYO15A	.	synonymous SNV	MYO15A:NM_016239:exon7:c.C3979T:p.L1327L,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1429	89	4	0	97	0.0328257	.	.	54910	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_3|not_provided|MYO15A-related_disorder	MedGen:CN169374|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00179712	0.0019	0	0.0012	0	0	0.0011	0.0045	0.0081	0.0015912	246	154602	rs146245515	0.0012	0.0012	0.0009	0.0014	0.0132	0.0011	0.0011	0.0108	0.0099	8.961e-05	0.0011	0.0006	5.038e-05	3.749e-05	0.0132	0.0006	0.0024	0.0081	0.0010	0.0010	0.0009	0.0011	0.0106	0.0009	0.0008	0.0083	0.0074	4.814e-05	0	0.0022	0.0017	0	0	0.0102	0.0007	0.0033	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1997.98	71	chr17	18127112	.	C	T	1997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.97;DP=1302;ExcessHet=0.0000;FS=3.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=0.292;SOR=0.992	GT:AD:DP:GQ:PL	0/1:68,74:142:99:2012,0,1578	20	0	1	0
chr17	30216130	30216130	A	G	exonic	SLC6A4	.	synonymous SNV	SLC6A4:NM_001045:exon7:c.T924C:p.G308G,	.	.	414	1091	17	0	0	17	0.00773079	.	.	715351	Behavior_disorder|not_provided	MedGen:C0004930|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.000199681	0.0020	0.0007	0.0002	0	0.0042	0.0021	0.0044	0.0038	0.0019922	308	154602	rs74845752	0.0029	0.0029	0.0028	0.0030	0.0035	0.0028	0.0028	0.0032	0.0031	0.0005	0.0006	0.0002	0	0.0038	0.0012	0.0033	0.0016	0.0035	0.0016	0.0016	0.0015	0.0018	0.0032	0.0015	0.0014	0.0021	0.0020	0.0005	0	0.0003	0.0003	0	0.0040	0	0.0024	0.0010	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	998.98	35	chr17	30216130	.	A	G	998.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.685e+00;DP=792;ExcessHet=0.0000;FS=1.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=1.71;SOR=0.475	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1013,0,1069	20	0	1	0
chr17	41586747	41586747	G	A	exonic	KRT14	.	nonsynonymous SNV	KRT14:NM_000526:exon1:c.C88T:p.R30C,	Dermatopathia pigmentosa reticularis, Autosomal dominant;Epidermolysis bullosa simplex, Dowling-Meara type, Autosomal dominant;Epidermolysis bullosa simplex, Koebner type, Autosomal dominant;Epidermolysis bullosa simplex, Weber-Cockayne type, Autosomal dominant;Epidermolysis bullosa simplex, recessive 1, Autosomal recessive;Naegeli-Franceschetti-Jadassohn syndrome, Autosomal dominant	.	5	1478	36	3	0	42	0.0140093	.	.	77278	not_provided|Epidermolysis_bullosa_simplex_1D,_generalized,_intermediate_or_severe,_autosomal_recessive	MedGen:C3661900|MONDO:MONDO:0010976,MedGen:C3715082,OMIM:601001,Orphanet:89838	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.32	T	0.071	B	0.007	B	0.000	D	1.000	D	1.15	L	-1.82	D	-0.609	T	0.305	T	0.411	2.496	14.30	3.92	1.186	1.269	8.172	0.336	0.0919003087165	0.0024	0.00419329	0.0051	0.0053	0.0034	0	0	0.0036	0.0062	0.0097	0.0018693	289	154602	rs201069984	0.0017	0.0017	0.0014	0.0020	0.0088	0.0016	0.0016	0.0083	0.0081	0.0049	0.0011	0.0129	0	1.979e-05	0.0083	0.0008	0.0031	0.0088	0.0025	0.0025	0.0024	0.0026	0.0081	0.0023	0.0022	0.0061	0.0054	0.0045	0	0.0027	0.0130	0	0	0.0034	0.0009	0.0028	0.0081	0.018	0.50676	D	0.022	0.57587	D	0.071	0.23930	B	0.007	0.12992	B	0.000054	0.53742	D	0.000000	0.999982	0.54805	D	2.825	0.82220	M	-1.82	0.84047	D	-3.73	0.70920	D	0.421	0.46086	-0.6090	0.64445	T	0.305	0.67612	T	10	0.0058447123	0.00130	T	0.092	0.75792	D	0.336	0.65816	.	.	0.817770694489	0.81605	0.7382263232607672	0.73767	0.649699804287	0.58275	0.543735265732	0.44973	T	0.484992	0.81207	T	-0.27893	0.10781	T	-0.166901	0.57726	T	0.0432151501061718	0.04276	T	0.567543	0.20130	T	0.1657774	0.36872	0.15565942	0.36478	0.1657774	0.36871	0.15565942	0.36477	-8.884	0.66946	D	.	.	0.496	0.64398	A	.	.	3.935106	0.57545	23.9	0.99709200195213732	0.81213	0.69373	0.34162	D	AEFBHCI	0.292534	0.40338	N	-0.299626081532119	0.29163	1.614818	-0.160226345690621	0.33017	1.884281	0.99994031114558	0.47345	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.9	3.92	0.44525	1.082000	0.30415	7.262000	0.57963	0.665000	0.62972	0.744000	0.29069	1.000000	0.68203	0.985000	0.61073	0.0789:0.0:0.6666:0.2545	8.172	0.30421	276	0.89131	.	.	.	.	.	.	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	794.98	50	chr17	41586747	.	G	A	794.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=1173;ExcessHet=0.0000;FS=1.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.50;MQRankSum=1.08;QD=14.72;ReadPosRankSum=-5.110e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:26,28:54:99:809,0,656	20	0	1	0
chr17	41611714	41611714	G	A	exonic	KRT16	.	nonsynonymous SNV	KRT16:NM_005557:exon2:c.C539T:p.A180V,	Pachyonychia congenita 1, Autosomal dominant;Palmoplantar keratoderma, nonepidermolytic, focal, Autosomal dominant	.	54	1435	32	1	0	34	0.011708	.	.	578544	not_provided|Palmoplantar_keratoderma,_epidermolytic|Pachyonychia_congenita_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0007559,MONDO:MONDO:0968949,MedGen:C1721006,OMIM:PS144200|MONDO:MONDO:0008173,MedGen:C1706595,OMIM:167200,Orphanet:2309	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	0.094	B	0.041	B	0.226	N	1.000	N	1.53	L	-2.49	D	-0.619	T	0.399	T	0.129	2.655	14.84	-7.8	-1.411	-0.817	3.341	0.205	0.0687793059663	0.0012	0.00279553	0.0027	0.0004	0.0023	0	0	0.0019	0.0031	0.0095	0.0019081	295	154602	rs142750223	0.0016	0.0016	0.0013	0.0018	0.0090	0.0015	0.0015	0.0083	0.0081	0.0004	0.0015	0.0142	5.045e-05	0	0.0090	0.0008	0.0030	0.0088	0.0013	0.0013	0.0012	0.0014	0.0079	0.0012	0.0011	0.0059	0.0052	0.0002	0	0.0028	0.0144	0	0	0.0034	0.0008	0.0024	0.0079	0.181	0.21884	T	0.268	0.22494	T	0.094	0.25382	B	0.041	0.23986	B	0.225726	0.03485	N	1.663140	1	0.08975	N	1.725	0.44537	L	-2.49	0.89145	D	-2.11	0.48020	N	0.198	0.21839	-0.6187	0.64042	T	0.399	0.75073	T	10	0.008734137	0.00198	T	0.068779	0.70547	D	0.205	0.49236	.	.	0.374434639691	0.37057	0.3959369747124973	0.39508	0.323931943734	0.34550	0.202822953463	0.00543	T	0.508012	0.82549	D	-0.43734	0.01341	T	-0.394587	0.34016	T	0.0059826243667112	0.00066	T	0.383762	0.09387	T	0.0683087	0.14871	0.086108975	0.19927	0.079132564	0.18061	0.09049994	0.21226	-5.985	0.46154	T	0.15927862210846774	0.19356	0.121	0.25199	B	.	.	1.341161	0.17474	13.19	0.91350593529182778	0.20613	0.17544	0.19883	N	AEFBI	0.242342	0.36381	N	-1.09294577632445	0.06772	0.3127196	-1.22782316927274	0.05467	0.2605757	0.98893701569782	0.31673	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.32	-7.8	0.01078	-0.566000	0.06013	-2.331000	0.03890	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.280000	0.24017	0.1743:0.4117:0.2341:0.1799	3.341	0.06703	309	0.87553	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	416.98	21	chr17	41611714	.	G	A	416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.050e-01;DP=589;ExcessHet=0.0000;FS=3.319;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.15;MQRankSum=0.279;QD=14.38;ReadPosRankSum=1.97;SOR=1.402	GT:AD:DP:GQ:PL	0/1:13,16:29:99:431,0,334	20	0	1	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	1/5:1,3,0,0,0,3,0:7:57:.:.:195,57,132,195,118,245,195,118,245,245,195,118,245,245,245,100,0,128,128,128,113,195,118,245,245,245,128,245	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	1/5:1,3,0,0,0,3,0:7:57:.:.:195,57,132,195,118,245,195,118,245,245,195,118,245,245,245,100,0,128,128,128,113,195,118,245,245,245,128,245	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	1/5:1,3,0,0,0,3,0:7:57:.:.:195,57,132,195,118,245,195,118,245,245,195,118,245,245,245,100,0,128,128,128,113,195,118,245,245,245,128,245	2	1	3	0
chr17	78125168	78125168	G	A	exonic	TMC6	.	nonsynonymous SNV	TMC6:NM_001127198:exon6:c.C526T:p.R176C	Epidermodysplasia verruciformis, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	1126827	Epidermodysplasia_verruciformis|Inborn_genetic_diseases	MONDO:MONDO:0009176,MedGen:C0014522,OMIM:PS226400,Orphanet:302|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.585	P	0.102	B	.	.	1.000	D	1.155	L	0.11	T	-0.943	T	0.096	T	0.292	2.241	13.45	0.957	1.522	1.872	2.753	0.078	0.30882168713	7.7e-05	0.000399361	0.0005	0.0003	0	0	0	9.174e-05	0.0049	0.0012	0.0001617	25	154602	rs112743475	0.0001	0.0001	9.081e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	3.066e-05	7.933e-05	0	0	0	0.0007	5.419e-05	0.0001	0.0014	0.0001	0.0001	3.853e-05	0.0002	0.0017	8.159e-05	6.717e-05	0.0008	0.0006	9.616e-05	0	0	0	0	0	0	8.82e-05	0.0005	0.0017	0.034	0.45039	D	0.123	0.36901	T	0.585	0.38912	P	0.102	0.30857	B	.	.	.	.	0.889728	0.81001	D	2.95	0.84923	M	0.11	0.61208	T	-4.34	0.78472	D	0.228	0.29197	-0.9425	0.42218	T	0.096	0.36263	T	9	0.017108172	0.00363	T	0.308822	0.91120	D	0.078	0.22779	.	.	0.381239546501	0.37731	0.4932655510164084	0.49247	0.244973407619	0.27023	0.672464847565	0.63189	T	0.291562	0.66431	T	-0.367515	0.03722	T	-0.313916	0.43237	T	0.338565677404404	0.26567	T	0.912309	0.68816	D	0.17928296	0.38992	0.1334257	0.31996	0.17243223	0.37934	0.13190188	0.31662	-8.072	0.61560	D	.	.	0.132	0.34580	B	.;.;.;.;.	.;.;.;.;.	4.774579	0.77330	26.7	0.99447807971282243	0.65122	0.76585	0.37572	D	AEFDGBCI	0.334857	0.43349	N	-0.245573959427439	0.31280	1.752399	-0.192056016180864	0.31828	1.804882	0.999999995382184	0.74766	0.695654	0.57023	0	0.52208	0.09955	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.27	0.957	0.18736	1.973000	0.40173	8.137000	0.76672	0.616000	0.49467	0.418000	0.26314	1.000000	0.68203	0.922000	0.45779	0.1197:0.1774:0.5222:0.1807	2.753	0.04960	846	0.36215	.;.;.;.;.	.	.	.	.	.	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	0	0	0.02381	480.98	35	chr17	78125168	.	G	A	480.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.772e+00;DP=751;ExcessHet=0.0000;FS=3.041;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=1.40;SOR=0.491	GT:AD:DP:GQ:PL	0/1:13,21:34:99:495,0,328	20	0	1	0
chr17	80048756	80048756	G	C	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon5:c.G850C:p.D284H	Ciliary dyskinesia, primary, 15	.	0	1480	41	1	0	43	0.014319	.	.	256485	not_provided|Primary_ciliary_dyskinesia_15|not_specified|Male_infertility|Primary_ciliary_dyskinesia	MedGen:C3661900|MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|MedGen:CN169374|Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MedGen:C0021364|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	.	.	0.634	D	2.495	M	1.96	T	-0.255	T	0.347	T	0.673	3.222	16.80	1.55	0.409	0.461	8.520	0.174	.	0.0024	0.00139776	0.0041	0.0012	0.0013	0	0	0.0039	0.0145	0.0102	0.002639	408	154602	rs201042940	0.0025	0.0025	0.0023	0.0027	0.0191	0.0024	0.0024	0.0162	0.0151	0.0011	0.0013	0.0062	0	0.0002	0.0191	0.0021	0.0032	0.0087	0.0016	0.0016	0.0014	0.0018	0.0087	0.0014	0.0014	0.0066	0.0059	0.0004	0.0011	0.0008	0.0037	0	0.0002	0.0204	0.0021	0.0043	0.0087	0.004	0.72154	D	0.008	0.76473	D	1.0	0.90584	D	0.968	0.75168	D	.	.	.	.	0.633722	0.32813	D	2.83	0.82355	M	0.33	0.59314	T	-4.65	0.84601	D	0.53	0.55886	-0.2553	0.76216	T	0.347	0.71147	T	9	0.01399526	0.00295	T	.	.	.	0.174	0.44019	.	.	0.682504492806	0.67979	0.24220831427307404	0.24134	0.76162819002	0.64289	0.405483782291	0.25832	T	0.56747	0.85623	D	-0.250417	0.14046	T	-0.125376	0.61358	T	0.0493624269693155	0.05388	T	0.881912	0.64770	D	0.2342842	0.46246	0.24963558	0.50538	0.23541293	0.46377	0.29497436	0.55528	-7.763	0.62419	D	0.7666023762268043	0.84792	0.346	0.56831	A	.;.;.;.	.;.;.;.	2.747739	0.36012	20.1	0.99456458065418962	0.65581	0.51224	0.28846	D	AEFGBIJ	0.137980	0.25913	N	0.264883616036358	0.54378	3.603614	0.120231942431681	0.45586	2.81906	6.51723434342093E-4	0.07551	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.7	1.55	0.22356	0.526000	0.22680	0.951000	0.22923	0.676000	0.76740	0.531000	0.27197	0.039000	0.21534	0.958000	0.51230	0.2692:0.0:0.7308:0.0	8.520	0.32428	900	0.24599	.;.;.;.	.	.	.	.	.	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	1	0	0.04762	2491.11	35	chr17	80048756	.	G	C	2491.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.16;DP=941;ExcessHet=0.1072;FS=3.153;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=0.014;SOR=0.513	GT:AD:DP:GQ:PL	0/1:79,66:145:99:1775,0,1977	19	0	2	0
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	0/1:86,78:164:99:2026,0,2022	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	1/1:0,98:98:99:3033,293,0	0	12	9	0
chr18	46505863	46505863	C	T	exonic	LOXHD1	.	synonymous SNV	LOXHD1:NM_001145473:exon5:c.G570A:p.K190K	Deafness, autosomal recessive 77, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	57111	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_77|not_specified	MedGen:C3661900|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	.	0.0011	0	0	0	0	0.0024	0.0041	0.0001	0.0002393	37	154602	rs201366522	0.0006	0.0005	0.0005	0.0006	0.0018	0.0005	0.0005	0.0010	0.0007	0	0.0006	0.0088	0	0	0.0018	0.0004	0.0012	6.31e-05	0.0007	0.0007	0.0008	0.0006	0.0009	0.0006	0.0005	0.0006	0.0005	7.218e-05	0	0.0009	0.0092	0	0	0	0.0007	0.0009	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	1	1	0.02381	1373.98	34	chr18	46505863	.	C	T	1373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.631e+00;DP=875;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.48;ReadPosRankSum=-1.649e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/1:86,59:145:99:1388,0,2440	20	0	1	0
chr18	46577862	46577862	G	A	exonic	LOXHD1	.	synonymous SNV	LOXHD1:NM_001384474:exon14:c.C1815T:p.D605D	Deafness, autosomal recessive 77, Autosomal recessive	YES	0	1515	7	0	0	7	0.00230491	.	.	176574	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_77|not_specified	MedGen:C3661900|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	0.192	5.033	-9.64	-1.928	-0.034	19.886	.	.	0.0011	0.000399361	0.0011	0.0007	0	0	0	0.0023	0	0.0001	0.0002652	41	154602	rs201388780	0.0005	0.0005	0.0005	0.0005	0.0016	0.0005	0.0005	0.0008	0.0006	0.0002	0.0007	0.0085	8.394e-05	4.061e-05	0.0016	0.0004	0.0011	8.834e-05	0.0007	0.0007	0.0008	0.0006	0.0011	0.0006	0.0005	0.0007	0.0006	0.0002	0	0.0011	0.0092	0	0	0	0.0006	0.0014	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	1	1	0.02381	1096.98	33	chr18	46577862	.	G	A	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=805;ExcessHet=0.0000;FS=3.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=-1.091e+00;SOR=1.088	GT:AD:DP:GQ:PL	0/1:53,43:96:99:1111,0,1252	20	0	1	0
chr18	57571588	57571588	A	G	intronic	FECH	.	.	.	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	YES	1	1374	141	6	0	153	0.0527404	.	.	15601	Protoporphyria,_erythropoietic,_1|Erythema|Jaundice|not_provided|Autosomal_erythropoietic_protoporphyria	MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|MedGen:C3661900|MONDO:MONDO:0019263,MedGen:CN283243,Orphanet:79278	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0374	0.13738	0.1073	0.0201	0.3755	0.3268	0.0951	0.0515	0.0881	0.0903	0.101059	15624	154602	rs2272783	0.0670	0.0671	0.0677	0.0664	0.3864	0.0667	0.0665	0.3813	0.3792	0.0157	0.3229	0.0647	0.3864	0.0905	0.0519	0.0443	0.0663	0.0887	0.0680	0.0682	0.0619	0.0744	0.3371	0.0669	0.0665	0.3239	0.3186	0.0190	0.0011	0.1825	0.0643	0.3371	0.0969	0.0578	0.0461	0.0771	0.0960	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2127.11	34	chr18	57571588	.	A	G	2127.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.33;DP=822;ExcessHet=0.1072;FS=0.590;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=2.20;SOR=0.620	GT:AD:DP:GQ:PL	0/1:40,30:70:99:789,0,982	19	0	2	0
chr18	57580222	57580222	G	A	intronic	FECH	.	.	.	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	.	2	910	527	83	0	693	0.275766	.	.	15589	Protoporphyria,_erythropoietic,_1|Jaundice|Erythema|not_provided	MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2588	0.334665	0.2467	0.4468	0.4373	0.3093	0.2329	0.1736	0.2174	0.2577	0.238063	36805	154602	rs2269219	0.1942	0.1944	0.1942	0.1942	0.4542	0.1936	0.1934	0.4482	0.4457	0.4542	0.3983	0.2246	0.3662	0.2313	0.2387	0.1638	0.2062	0.2567	0.2741	0.2744	0.2705	0.2778	0.4470	0.2719	0.2710	0.4416	0.4394	0.4470	0.0822	0.3025	0.2145	0.3240	0.2456	0.3027	0.1704	0.2623	0.2512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	7371.28	36	chr18	57580222	.	G	A	7371.28	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-1.898e+00;DP=793;ExcessHet=2.2868;FS=2.069;InbreedingCoeff=-0.1085;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=18.71;ReadPosRankSum=0.174;SOR=0.832	GT:AD:DP:GQ:PL	0/1:8,24:32:99:753,0,208	11	1	9	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	0/1:41,38:79:99:972,0,940	19	0	2	0
chr19	1619351	1619351	C	T	exonic	TCF3	.	nonsynonymous SNV	TCF3:NM_001136139:exon15:c.G1291A:p.G431S	Agammaglobulinemia 8, autosomal dominant, Autosomal dominant	.	432	912	160	18	0	196	0.0970297	.	.	1158423	Myeloproliferative_neoplasm,_unclassifiable|not_provided	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.37	T	0.649	P	0.069	B	0.012	N	1.000	P	1.515	L	0.37	T	-1.032	T	0.000	T	0.254	1.741	11.78	-0.72	0.264	-1.118	4.654	0.049	.	0.0579	0.11262	0.0975	0.0590	0.0736	0.2553	0.1175	0.0807	0.1091	0.1095	0.0745657	11528	154602	rs1052692	0.0809	0.0804	0.0804	0.0813	0.2586	0.0805	0.0803	0.2544	0.2526	0.0530	0.0722	0.0809	0.2586	0.0936	0.1062	0.0737	0.0836	0.0982	0.0781	0.0783	0.0747	0.0816	0.2398	0.0769	0.0764	0.2288	0.2243	0.0526	0.1101	0.0743	0.0804	0.2398	0.1055	0.1054	0.0753	0.0744	0.1070	0.275	0.21224	T	0.412	0.19908	T	0.649	0.40609	P	0.069	0.27757	B	0.012425	0.29177	N	0.354219	1	0.08975	P	0.715	0.18665	N	0.37	0.57729	T	-0.06	0.14390	N	0.112	0.10340	-1.0319	0.19841	T	0.000	0.00011	T	9	0.005535662	0.00122	T	.	.	.	0.049	0.13647	.	.	.	.	0.1764113582060066	0.17560	0.0426198176388	0.04596	0.455109536648	0.32642	T	0.229484	0.59532	T	-0.60151	0.00143	T	-0.492984	0.23078	T	0.00173298434755781	0.00018	T	0.687331	0.29630	T	0.018899487	0.00413	0.028886206	0.01168	0.020243531	0.00577	0.028886206	0.01168	-6.015	0.46406	T	0.10491328380337807	0.08259	0.062	0.02399	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.056236	0.03909	0.861	0.86388203850194412	0.16503	0.08008	0.13988	N	AEFDBCI	0.112221	0.22190	N	-1.0711015278086	0.07180	0.3327626	-1.16101898359672	0.06572	0.3167875	0.365097429933275	0.19815	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.29	-0.72	0.10631	-0.137000	0.10369	-0.146000	0.11468	-1.656000	0.00819	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1526:0.572:0.0:0.2754	4.654	0.11993	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	0.119	5436.44	33	chr19	1619351	.	C	T	5436.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=2.14;DP=923;ExcessHet=1.1607;FS=1.364;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=17.65;ReadPosRankSum=-3.700e-02;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,22:49:99:0|1:1619334_G_A:843,0,1027:1619334	16	0	5	0
chr19	5151504	5151504	C	T	exonic	KDM4B	.	nonsynonymous SNV	KDM4B:NM_015015:exon23:c.C3284T:p.P1095L,	.	YES	.	.	.	.	.	.	.	.	.	971283	Neurodevelopmental_delay|Intellectual_developmental_disorder,_autosomal_dominant_65	Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738|MONDO:MONDO:0023657,MedGen:C5543371,OMIM:619320	no_assertion_criteria_provided	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	0.997	D	0.991	D	0.022	N	1.000	D	1.1	L	2.19	T	-1.086	T	0.083	T	0.442	3.778	19.18	3.27	2.122	1.565	10.303	0.095	0.313146367017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.0	0.92824	D	0.997	0.70673	D	0.991	0.79672	D	0.021686	0.26783	N	0.313960	0.998953	0.45755	D	.	.	.	2.19	0.19020	T	-2.8	0.59226	D	0.126	0.11912	-1.0859	0.06245	T	0.083	0.32700	T	10	0.243525	0.41568	T	0.313146	0.91247	D	0.095	0.27398	0.252	0.19067	0.151262610727	0.14761	0.3656096589815389	0.36474	0.54485426869	0.51528	0.572288036346	0.49002	T	0.022492	0.20499	T	-0.114135	0.34087	T	-0.401724	0.33183	T	0.939388811588287	0.61080	D	0.644736	0.25952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22609	B	.;.;.	.;.;.	4.626180	0.73504	26.0	0.99873781487961155	0.95076	0.49406	0.28426	N	AEFDBCI	0.110093	0.21845	N	0.253827910543076	0.53829	3.550184	0.2101876502835	0.50411	3.233517	0.973685540487094	0.29477	0.634777	0.41761	0	0.643519	0.57511	0	0.26897	0.05253	2	0.699875	0.68795	0	.	.	3.27	3.27	0.36580	2.327000	0.43517	2.570000	0.33360	0.584000	0.30380	0.987000	0.36337	0.030000	0.21233	0.930000	0.46718	0.0:1.0:0.0:0.0	10.303	0.42844	969	0.06854	.;.;.	.	.	.	.	.	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	0	0	0	0	0.02381	281.98	38	chr19	5151504	.	C	T	281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.045;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.88;ReadPosRankSum=1.49;SOR=0.601	GT:AD:DP:GQ:PL	0/1:27,14:41:99:296,0,701	20	0	1	0
chr19	11236849	11236849	C	T	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon19:c.G2104A:p.G702S	Adams-Oliver syndrome 2, Autosomal recessive	.	0	1481	38	3	0	44	0.0146374	.	.	514258	not_provided|Adams-Oliver_syndrome_2|DOCK6-related_disorder	MedGen:C3661900|MONDO:MONDO:0013635,MedGen:C3280182,OMIM:614219,Orphanet:974|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.734	P	0.211	B	0.000	D	0.777	D	2.205	M	1.69	T	-0.939	T	0.056	T	0.209	3.415	17.54	3.62	2.148	4.448	5.400	0.093	.	0.0008	0.00199681	0.0062	0.0009	0.0047	0	0.0192	0.0028	0.0053	0.0120	0.0014553	225	154602	rs199838752	0.0019	0.0019	0.0015	0.0022	0.0118	0.0018	0.0018	0.0112	0.0109	0.0001	0.0008	0.0040	2.778e-05	0.0015	0.0091	0.0012	0.0023	0.0118	0.0013	0.0013	0.0013	0.0013	0.0087	0.0012	0.0011	0.0066	0.0059	0.0004	0	0.0007	0.0055	0.0002	0.0016	0.0136	0.0013	0.0014	0.0087	0.017	0.51248	D	0.321	0.19073	T	0.586	0.38931	P	0.211	0.37346	B	0.000237	0.47286	D	0.173369	0.776653	0.34216	D	1.72	0.44442	L	1.69	0.27032	T	-3.76	0.71276	D	0.271	0.30687	-0.9394	0.42711	T	0.056	0.23639	T	10	0.00919348	0.00208	T	.	.	.	0.093	0.26882	.	.	0.414281671643	0.41045	0.5572741867770362	0.55654	0.352166808134	0.37058	0.556195914745	0.46730	T	0.138703	0.47233	T	-0.514771	0.00472	T	-0.502814	0.22056	T	0.0360450584337314	0.02988	T	0.812119	0.46368	T	0.19699134	0.41548	0.23599456	0.48859	0.19699134	0.41547	0.23599456	0.48858	-4.96	0.36403	T	.	.	0.081	0.08176	B	.	.	3.503437	0.49029	22.7	0.99803746337406507	0.88817	0.73063	0.35744	D	AEFDBHCIJ	0.244935	0.36595	N	0.255939982699271	0.53933	3.560307	0.281550120516721	0.54463	3.611177	0.999999985886754	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	4.66	3.62	0.40616	3.157000	0.50414	.	.	0.599000	0.40250	0.929000	0.32243	0.999000	0.35428	0.940000	0.48062	0.0:0.7138:0.0:0.2862	5.400	0.15591	830	0.39242	DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis C, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7920.66	59	chr19	11236849	.	C	T	7920.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.674;DP=1201;ExcessHet=0.0000;FS=1.859;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.27;ReadPosRankSum=1.49;SOR=0.572	GT:AD:DP:GQ:PL	0/1:132,117:249:99:2738,0,3030	19	1	1	0
chr19	11447718	11447718	C	T	exonic	PRKCSH	.	nonsynonymous SNV	PRKCSH:NM_001289103:exon12:c.C1055T:p.P352L	Polycystic liver disease 1, Autosomal dominant	.	4	1495	20	3	0	26	0.00862069	.	.	756701	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	.	.	.	.	.	.	.	.	0.76	T	0.004	B	0.002	B	0.055	N	0.999	N	2.045	M	-0.65	T	-0.960	T	0.219	T	0.204	1.597	11.30	1.74	1.026	1.044	6.774	0.093	0.0272592696228	0.0003	0.00179712	0.0016	0	0.0011	0	0	0.0007	0.0036	0.0071	0.0006792	105	154602	rs201537803	0.0004	0.0005	0.0003	0.0006	0.0041	0.0004	0.0004	0.0037	0.0036	0	0.0014	0.0014	0	0	0.0033	0.0001	0.0005	0.0041	0.0007	0.0007	0.0006	0.0009	0.0048	0.0006	0.0006	0.0033	0.0030	4.815e-05	0	0.0041	0.0014	0	9.425e-05	0.0034	0.0002	0.0005	0.0048	.	.	.	0.062	0.45318	T	0.004	0.12183	B	0.002	0.06944	B	0.055407	0.22644	N	0.489932	0.998738	0.21949	N	2.82	0.82106	M	-0.61	0.72237	T	.	.	.	0.379	0.42050	-0.9598	0.39218	T	0.219	0.58163	T	10	0.0074155033	0.00169	T	0.027259	0.50089	D	.	.	.	.	0.63602097216	0.63303	0.3148855545786996	0.31401	.	.	0.422644913197	0.28200	T	0.01709	0.26030	T	-0.410268	0.01979	T	-0.361969	0.37825	T	0.0276172191668433	0.01632	T	0.684232	0.29249	T	0.05801091	0.11619	0.06320872	0.12486	0.051008906	0.09304	0.060679134	0.11594	-5.921	0.45614	T	.	.	0.077	0.06479	B	.;.	.;.	1.813121	0.23040	15.86	0.75341233056295642	0.11037	0.23174	0.21990	N	AEFDBHCI	0.264501	0.38183	N	-0.871565434409026	0.11522	0.5565151	-0.923174362116508	0.11548	0.5889706	0.0211538212366338	0.13324	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.19	1.74	0.23636	1.717000	0.37612	.	.	0.469000	0.21855	0.004000	0.16614	0.031000	0.21272	0.004000	0.06068	0.1742:0.7234:0.0:0.1024	6.774	0.22797	793	0.45818	.;.	.	.	.	.	.	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	1311.98	38	chr19	11447718	.	C	T	1311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.416;DP=888;ExcessHet=0.0000;FS=0.691;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=0.656;SOR=0.609	GT:AD:DP:GQ:PL	0/1:61,54:115:99:1326,0,1527	20	0	1	0
chr19	44908684	44908684	T	C	exonic	APOE	.	nonsynonymous SNV	APOE:NM_000041:exon4:c.T388C:p.C130R	Alzheimer disease-2, Autosomal dominant;Hyperlipoproteinemia, type III;Lipoprotein glomerulopathy;Sea-blue histiocyte disease, Autosomal recessive	YES	1	1361	149	11	0	171	0.0591082	.	.	32903	Primary_degenerative_dementia_of_the_Alzheimer_type,_presenile_onset|Alzheimer_disease_4|not_provided|Lipoprotein_glomerulopathy|Alzheimer_disease_2|Alzheimer_disease|Warfarin_response	MedGen:C5779573|MONDO:MONDO:0011743,MedGen:C1847200,OMIM:606889,Orphanet:1020|MedGen:C3661900|MONDO:MONDO:0012725,MedGen:C2673196,OMIM:611771,Orphanet:329481|MONDO:MONDO:0007089,MedGen:C1863051,OMIM:104310,Orphanet:1020|Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020|MONDO:MONDO:0007390,MedGen:C0750384,OMIM:122700	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other|risk_factor	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.149	N	1.000	P	-1.7	N	-0.24	T	-1.013	T	0.000	T	0.432	-1.965	0.007	3.02	1.239	0.121	3.038	0.229	.	0.1416	0.150559	0.1843	0.2732	0.2145	0.1504	0.3266	0.2078	0.1706	0.1102	0.0990673	15316	154602	rs429358	0.1476	0.1464	0.1493	0.1458	0.2266	0.1470	0.1468	0.2223	0.2205	0.2266	0.1043	0.1205	0.0979	0.1912	0.0681	0.1514	0.1393	0.1004	0.1574	0.1574	0.1542	0.1607	0.2157	0.1557	0.1550	0.2120	0.2104	0.2157	0.1363	0.1133	0.1191	0.0977	0.1952	0.0685	0.1379	0.1148	0.1046	1.0	0.00964	T	0.829	0.03728	T	0.0	0.02946	B	0.001	0.04355	B	0.148941	0.18033	N	0.486559	1	0.08975	P	-1.465	0.00537	N	-0.24	0.80899	T	4.36	0.00049	N	0.051	0.02272	-1.0126	0.26101	T	0.000	0.00011	T	9	0.0037242472	0.00069	T	.	.	.	0.229	0.52916	.	.	.	.	0.594833485195711	0.59413	1.05397380339	0.76260	0.549231410027	0.45749	T	0.098671	0.40272	T	-0.475948	0.00781	T	-0.312622	0.43376	T	0.000220162258131143	0.00001	T	0.241876	0.03871	T	0.21238507	0.43588	0.19668251	0.43410	0.31240633	0.53993	0.24847607	0.50398	1.131	0.00116	T	0.021989899378371917	0.00011	0.036	0.00009	B	.;.;.;.	.;.;.;.	1.966721	0.24982	16.60	0.21739704419042166	0.00842	0.01144	0.04144	N	AEFDBCI	0.230364	0.35375	N	-1.33018657744613	0.03335	0.1487916	-1.15728233661909	0.06638	0.3201928	0.193817606357278	0.18033	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	5.25	3.02	0.33970	0.840000	0.27253	.	.	-0.256000	0.07045	0.892000	0.31242	1.000000	0.68203	0.485000	0.28678	0.1694:0.5443:0.1863:0.1001	3.038	0.05759	889	0.27310	.;.;.;.	APOC1|APOC1|CTB-129P6.4|CTB-171A8.1	Adrenal_Gland|Esophagus_Mucosa|Esophagus_Muscularis|Thyroid	APOE|TOMM40|TOMM40	Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	1	0	0	0	0	0	0	0	0	0	0	0.09524	4129.92	72	chr19	44908684	.	T	C	4129.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.766e+00;DP=948;ExcessHet=0.6776;FS=1.845;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=0.489;SOR=0.822	GT:AD:DP:GQ:PL	0/1:43,55:98:99:1255,0,1171	17	0	4	0
chr19	49862520	49862520	-	G	intronic	PNKP	.	.	.	Ataxia-oculomotor apraxia 4, Autosomal recessive;Microcephaly, seizures, and developmental delay, Autosomal recessive	.	0	1482	39	1	0	41	0.0136439	.	.	203597	Developmental_and_epileptic_encephalopathy,_12|not_specified|not_provided	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0114	0.00658946	0.0153	0.0028	0.0261	0	0.0041	0.0208	0.0169	0.0074	0.0022284	58	26028	rs3739200	0.0123	0.0123	0.0122	0.0124	0.0391	0.0121	0.0121	0.0349	0.0333	0.0027	0.0180	0.0311	0	0.0016	0.0391	0.0131	0.0139	0.0060	0.0106	0.0106	0.0109	0.0102	0.0286	0.0101	0.0100	0.0264	0.0255	0.0023	0	0.0286	0.0268	0	0.0006	0.0136	0.0132	0.0199	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1835.94	36	chr19	49862520	.	A	AG	1835.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.987;DP=879;ExcessHet=0.0000;FS=0.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-7.130e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:75,72:147:99:1850,0,1939	20	0	1	0
chr19	55151799	55151799	G	A	UTR3	TNNI3	NM_000363:c.*35C>T	.	.	Cardiomyopathy, dilated, 1FF;Cardiomyopathy, familial restrictive, 1, Autosomal dominant;Cardiomyopathy, hypertrophic, 7, Autosomal dominant	.	1	1516	5	0	0	5	0.00164636	.	.	186575	not_provided|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Dilated_cardiomyopathy_2A|Hypertrophic_cardiomyopathy_7|Cardiomyopathy,_familial_restrictive,_1	MedGen:C3661900|MedGen:CN239247|MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154|MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690|MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3e-05	0.00758786	0.0036	0	0.0002	0	0	0	0.0011	0.0265	0.0032729	506	154602	rs375447438	0.0016	0.0016	0.0009	0.0024	0.0259	0.0016	0.0016	0.0250	0.0247	6.054e-05	2.238e-05	0	0	0	0.0003	1.555e-05	0.0020	0.0259	0.0010	0.0010	0.0006	0.0015	0.0307	0.0009	0.0008	0.0266	0.0251	7.219e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1759.98	35	chr19	55151799	.	G	A	1759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.458;DP=827;ExcessHet=0.0000;FS=2.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-6.180e-01;SOR=0.483	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1774,0,1468	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	0/1:39,16:55:99:355,0,1108	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	0/1:107,99:206:99:2138,0,2658	9	2	10	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	.	212	501	433	376	0	1185	0.541838	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	3412.19	6	chr20	44429378	.	T	C	3412.19	.	AC=25;AF=0.658;AN=38;BaseQRankSum=0.508;DP=206;ExcessHet=0.3394;FS=7.051;InbreedingCoeff=0.0621;MLEAC=26;MLEAF=0.684;MQ=60.00;MQRankSum=0.00;QD=18.25;ReadPosRankSum=0.00;SOR=1.306	GT:AD:DP:GQ:PL	0/1:4,5:9:99:149,0,129	3	9	7	2
chr20	45960265	45960265	G	A	exonic	ZNF335	.	nonsynonymous SNV	ZNF335:NM_022095:exon14:c.C1963T:p.P655S,	.	.	408	1089	24	1	0	26	0.0117967	.	.	208673	not_specified|ZNF335-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.92	P	0.578	P	0.016	N	0.835	N	-0.395	N	4.81	T	-0.868	T	0.003	T	0.454	3.911	19.89	4.16	1.389	2.901	6.4	0.158	.	0.0069	0.0145767	0.0120	0.0017	0.0042	0.0001	0.0024	0.0091	0.0077	0.0456	0.0118368	1830	154602	rs117132825	0.0124	0.0124	0.0113	0.0136	0.0454	0.0123	0.0122	0.0442	0.0438	0.0015	0.0054	0.0031	7.557e-05	0.0033	0.0114	0.0116	0.0125	0.0454	0.0076	0.0076	0.0074	0.0078	0.0447	0.0072	0.0071	0.0399	0.0380	0.0021	0	0.0076	0.0026	0.0004	0.0020	0.0034	0.0102	0.0071	0.0447	0.235	0.18000	T	0.466	0.12386	T	0.92	0.51019	P	0.578	0.50118	P	0.015818	0.28146	N	0.343744	0.835286	0.28705	N	0.805	0.20218	L	4.81	0.01516	T	0.92	0.01573	N	0.144	0.14480	-0.8676	0.50709	T	0.003	0.00961	T	10	0.005218357	0.00114	T	.	.	.	0.158	0.41098	.	.	.	.	0.4356960719473755	0.43486	0.360157557372	0.37701	0.612389087677	0.54654	T	0.066011	0.32834	T	-0.493425	0.00623	T	-0.447239	0.28002	T	0.0158836538418582	0.00374	T	0.815218	0.46991	T	0.02445945	0.01279	0.051130466	0.08168	0.02445945	0.01279	0.051130466	0.08167	-6.461	0.49984	T	0.08599279736080774	0.04906	0.099	0.16756	B	.	.	3.008141	0.40220	21.1	0.99906022371637671	0.97651	0.68371	0.33777	D	AEFBCI	0.254427	0.37374	N	0.0287885750426017	0.43168	2.615051	0.145351760857554	0.46898	2.92826	0.998681059134653	0.37455	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	4.16	0.48138	2.929000	0.48610	5.193000	0.47905	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0883:0.0:0.6328:0.2788	6.4	0.20835	745	0.52414	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	rs117132825	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	1654.98	44	chr20	45960265	.	G	A	1654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.457;DP=835;ExcessHet=0.0000;FS=3.326;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=0.383;SOR=1.068	GT:AD:DP:GQ:PL	0/1:63,63:126:99:1669,0,1745	20	0	1	0
chr20	46725661	46725661	C	T	exonic	SLC2A10	.	synonymous SNV	SLC2A10:NM_030777:exon2:c.C625T:p.L209L,	Arterial tortuosity syndrome, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	351083	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Arterial_tortuosity_syndrome|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0008818,MedGen:C1859726,OMIM:208050,Orphanet:3342|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.136e-05	0	0	0	0	3.013e-05	0	0.0002	3.23e-05	5	154602	rs748662135	2.394e-05	2.463e-05	1.497e-05	3.301e-05	0.0002	1.739e-05	1.539e-05	7.123e-05	5.481e-05	0	4.472e-05	0	0	0	0.0002	1.799e-05	1.656e-05	0.0001	5.256e-05	5.253e-05	5.137e-05	5.38e-05	0.0003	2.557e-05	1.83e-05	0.0001	8.287e-05	0	0	0.0003	0	0	0	0	4.41e-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	1	1	0.02381	1742.98	34	chr20	46725661	.	C	T	1742.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.526;DP=857;ExcessHet=0.0000;FS=0.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=0.031;SOR=0.814	GT:AD:DP:GQ:PL	0/1:59,63:122:99:1757,0,1504	20	0	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	0/1:40,50:90:99:1243,0,864	15	0	6	0
chr22	19479987	19479987	C	G	exonic	CDC45	.	nonsynonymous SNV	CDC45:NM_001178010:exon1:c.C19G:p.R7G	Meier-Gorlin syndrome 7, Autosomal recessive	.	422	1097	3	0	0	3	0.0013655	.	.	798053	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.955	P	0.554	P	0.000	D	1.000	D	2.31	M	1.81	T	-0.745	T	0.141	T	0.908	4.713	26.2	4.28	1.561	2.838	13.269	0.286	0.0624737005561	0.0008	0.00119808	0.0015	0.0003	0.0014	0	0.0005	0.0018	0.0022	0.0018	0.0014942	231	154602	rs147730653	0.0012	0.0012	0.0012	0.0012	0.0019	0.0011	0.0011	0.0016	0.0015	8.961e-05	0.0019	3.827e-05	0	0.0005	0.0005	0.0013	0.0010	0.0017	0.0012	0.0012	0.0011	0.0012	0.0029	0.0010	0.0010	0.0023	0.0020	0.0002	0.0077	0.0029	0	0	0.0004	0.0068	0.0015	0.0019	0.0019	0.028	0.53900	D	0.047	0.55759	D	0.881	0.48446	P	0.414	0.44907	B	0.000001	0.62929	D	0.098330	1	0.81001	D	2.81	0.81869	M	1.81	0.47477	T	-4.16	0.77881	D	0.842	0.83781	-0.7450	0.58195	T	0.141	0.46054	T	10	0.012328148	0.00265	T	0.062474	0.68663	D	0.286	0.60456	.	.	0.526437037968	0.52289	0.6790420802326358	0.67843	1.05904356239	0.76417	0.717340230942	0.69659	T	0.396885	0.75540	T	-0.0729052	0.40862	T	0.115716	0.77949	D	0.0788720697164536	0.09842	T	0.935106	0.78720	D	0.84202707	0.86753	0.71766865	0.83334	0.88631564	0.90195	0.7272498	0.83888	-10.903	0.79123	D	.	.	0.533	0.71031	A	.;.;.;.;.	.;.;.;.;.	4.657480	0.74301	26.1	0.99746332154707695	0.83927	0.67472	0.33445	D	AEFGBHCIJ	0.703920	0.65980	D	0.433117360986327	0.63252	4.555463	0.432311386879424	0.63588	4.595688	0.999999999999677	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.32	4.28	0.50183	3.265000	0.51264	7.518000	0.59719	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9201:0.0:0.0799	13.269	0.59581	547	0.72440	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	558.98	33	chr22	19479987	.	C	G	558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.369;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=-3.720e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/1:33,27:60:99:573,0,728	20	0	1	0
chr22	41926712	41926712	G	C	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon1:c.C62G:p.P21R,	Immunodeficiency, common variable, 4, Autosomal recessive	.	15	1338	155	14	0	183	0.0640084	.	.	351721	Immunodeficiency,_common_variable,_4|not_provided	MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.177	B	0.075	B	0.055	N	1.000	P	0.345	N	1.53	T	-1.063	T	0.003	T	0.069	1.650	11.47	0.119	-0.044	0.155	5.210	0.026	.	0.0228	0.0445288	0.0680	0.0278	0.0143	0.0192	.	0.0675	0.075	0.0707	0.0156208	2415	154602	rs77874543	0.0757	0.0701	0.0763	0.0751	0.0807	0.0753	0.0751	0.0803	0.0801	0.0105	0.0430	0.0485	0.0477	0.0840	0.0523	0.0807	0.0666	0.0610	0.0559	0.0559	0.0562	0.0556	0.0794	0.0549	0.0545	0.0777	0.0769	0.0136	0.0418	0.0572	0.0446	0.0429	0.0777	0.0345	0.0794	0.0587	0.0606	0.269	0.16091	T	0.331	0.18505	T	0.177	0.28923	B	0.075	0.28327	B	0.055018	0.02067	N	2.146310	1	0.08975	P	0.55	0.14455	N	1.53	0.30401	T	-1.69	0.40274	N	0.032	0.00825	-1.0627	0.11093	T	0.003	0.00961	T	9	0.002217114	0.00032	T	.	.	.	0.026	0.05648	.	.	.	.	0.04705350402181684	0.04648	1.2817330372	0.82558	0.726921379566	0.71056	T	0.256713	0.62766	T	-0.726849	0.00025	T	-0.752614	0.03385	T	0.000626430001430001	0.00006	T	0.325267	0.06676	T	0.12616447	0.29558	0.09551607	0.22656	0.12616447	0.29558	0.09551607	0.22655	-4.891	0.35633	T	0.19346262128255112	0.25457	0.065	0.01960	B	.	.	1.243087	0.16388	12.51	0.73759748228903677	0.10445	0.07539	0.13553	N	ALL	0.051617	0.09136	N	-1.01591527802177	0.08273	0.3873328	-1.06527188759641	0.08392	0.4124026	0.999999997465868	0.74766	0.56387	0.32371	0	0.52208	0.09955	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.67	0.119	0.13989	-0.668000	0.05369	-0.744000	0.07606	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.278000	0.23967	0.1662:0.0:0.4361:0.3977	5.210	0.14633	130	0.94779	Tumour necrosis factor receptor 13C, TALL-1 binding domain	NAGA|SMDT1|NDUFA6-AS1|CYP2D7|SMDT1|NDUFA6-AS1|RP4-669P10.20|TNFRSF13C|SMDT1|SMDT1|NAGA|SMDT1|SMDT1|SMDT1|NDUFA6-AS1|RP4-669P10.20|CYP2D7|SMDT1|NDUFA6-AS1|RP4-669P10.19|RP4-669P10.20|CYP2D7|CYP2D7|CYP2D7|SMDT1|RP4-669P10.20|CYP2D7|TNFRSF13C|FAM109B|SMDT1|TNFRSF13C|SMDT1|NDUFA6-AS1|SMDT1|NDUFA6-AS1|CYP2D6|RP4-669P10.20|CYP2D7|SMDT1|CENPM|SMDT1|CYP2D6|CYP2D7|SMDT1|NAGA|RP4-669P10.19|NAGA|SMDT1|SEPT3|SMDT1|NDUFA6-AS1|RP4-669P10.20|CYP2D7|NAGA|SMDT1|RP4-669P10.19|RP4-669P10.20|EP300|NAGA|SMDT1|NDUFA6-AS1|RP4-669P10.19|RP4-669P10.20|CYP2D7|SMDT1|SMDT1|SMDT1|CYP2D7|SMDT1|NDUFA6-AS1|ACO2|CENPM|NAGA|SMDT1|NDUFA6-AS1|CYP2D6|CYP2D7|CYP2D8P|CENPM|NAGA|SMDT1|CYP2D6|CYP2D7|CYP2D8P|SMDT1|RP4-669P10.20|TNFRSF13C|SMDT1|SMDT1|NDUFA6-AS1|TNFRSF13C|SMDT1|RP4-669P10.20|CYP2D7|NAGA|SMDT1|NDUFA6-AS1|OLA1P1|CYP2D6|RP4-669P10.20|CYP2D7|CYP2D8P|SMDT1|DESI1|SMDT1|CYP2D6|CYP2D7|CYP2D8P	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood	CYP2D6|CYP2D6|CYP2D7|NDUFA6-AS1|CYP2D6|CYP2D7|NDUFA6-AS1|NDUFA6-AS1|CYP2D6|CYP2D7|NDUFA6-AS1|NDUFA6-AS1|NDUFA6-AS1|CYP2D6|CYP2D7|CYP2D6|CYP2D7|NDUFA6-AS1|CYP2D6|CYP2D7|NDUFA6-AS1|NDUFA6-AS1|NDUFA6-AS1|CYP2D7|SREBF2|CYP2D6|CYP2D7|SREBF2|CYP2D6|CYP2D7|CYP2D6|CYP2D7|SREBF2|SREBF2|CYP2D6|CYP2D7|CYP2D6|CYP2D7|NDUFA6-AS1|SREBF2|CYP2D6|CYP2D7	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Hippocampus|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Liver|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Whole_Blood|Whole_Blood|Whole_Blood	rs77874543	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.09524	552.92	31	chr22	41926712	.	G	C	552.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.911;DP=594;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1052;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=5.37;ReadPosRankSum=0.139;SOR=0.720	GT:AD:DP:GQ:PL	0/1:22,4:26:31:31,0,467	17	0	4	0
chrX	31507445	31507445	T	C	exonic	DMD	.	synonymous SNV	DMD:NM_004014:exon2:c.A39G:p.Q13Q	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive	YES	0	1517	1	4	0	9	0.00295761	.	.	195153	Duchenne_muscular_dystrophy|Cardiomyopathy|Dystrophin_deficiency|Becker_muscular_dystrophy|Cardiovascular_phenotype|not_provided|not_specified	MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|.|MONDO:MONDO:0010311,MedGen:C0917713,OMIM:300376,Orphanet:98895|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.905	T	0.189	T	.	0.162	4.869	2.06	0.764	1.581	7.014	0.094	.	.	.	0.0002	0	0	0	0	7.163e-05	0.0025	0.0010	0.0001358	21	154602	rs746514008	8.992e-05	8.923e-05	8.042e-05	0.0001	0.0017	7.548e-05	6.935e-05	0.0008	0.0006	0	2.904e-05	0	0	0	0.0017	7.169e-05	6.554e-05	0.0005	3.563e-05	4.35e-05	3.854e-05	2.903e-05	0.0004	1.132e-05	6.61e-06	6.22e-06	2.33e-06	0	0	0	0	0	0	0.0046	3.754e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1284.98	38	chrX	31507445	.	T	C	1284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.788;DP=862;ExcessHet=0.0000;FS=0.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=0.300;SOR=0.806	GT:AD:DP:GQ:PL	0/1:72,53:125:99:1299,0,1802	20	0	1	0
chrX	40064393	40064401	CAGTGGTCT	-	exonic	BCOR	.	nonframeshift deletion	BCOR:NM_001123384:exon6:c.3383_3391del:p.E1128_T1130del	Microphthalmia, syndromic 2, X-linked dominant	.	0	1521	0	1	0	2	0.00065703	.	.	513396	Oculofaciocardiodental_syndrome	MONDO:MONDO:0010261,MedGen:C1846265,OMIM:300166,Orphanet:2712	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1991.94	33	chrX	40064392	.	GCAGTGGTCT	G	1991.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.663e+00;DP=813;ExcessHet=0.0000;FS=10.321;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.75;ReadPosRankSum=1.60;SOR=0.204	GT:AD:DP:GQ:PL	0/1:45,51:96:99:2006,0,1727	20	0	1	0
chrX	72603120	72603120	G	A	exonic	PHKA1	.	synonymous SNV	PHKA1:NM_001172436:exon25:c.C2739T:p.S913S	Muscle glycogenosis, X-linked recessive	.	.	.	.	.	.	.	.	0.0027	0.058	903191	not_provided|Glycogen_storage_disease_IXd	MedGen:C3661900|MONDO:MONDO:0010362,MedGen:C1845151,OMIM:300559,Orphanet:715	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.226e-05	0	0	0	0	7.846e-05	0	0	3.23e-05	5	154602	rs782102345	2.004e-05	2.282e-05	2.211e-05	1.542e-05	3.337e-05	1.288e-05	1.093e-05	1.13e-05	8.96e-06	0	0	5.254e-05	3.337e-05	2.48e-05	0	1.882e-05	6.746e-05	0	1.788e-05	1.742e-05	1.286e-05	2.933e-05	3.765e-05	2.97e-06	1.11e-06	6.24e-06	2.34e-06	0	0	0	0	0	0	0	3.765e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1016.98	34	chrX	72603120	.	G	A	1016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.217e+00;DP=801;ExcessHet=0.0000;FS=1.702;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=0.849;SOR=0.499	GT:AD:DP:GQ:PL	0/1:46,47:93:99:1031,0,1037	20	0	1	0