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	NSWES949	WT	HH	HZ	NC
chr1	6468202	6468202	G	A	exonic	PLEKHG5	.	synonymous SNV	PLEKHG5:NM_001042664:exon20:c.C2634T:p.S878S	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive	.	0	1510	12	0	0	12	0.00395778	.	.	282874	not_provided|Inborn_genetic_diseases|Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_4|Charcot-Marie-Tooth_disease_recessive_intermediate_C	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012608,MedGen:C1970211,OMIM:611067,Orphanet:206580|MONDO:MONDO:0014154,MedGen:C3809309,OMIM:615376,Orphanet:369867	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0003	0.0004	0.0010	0	0	0.0002	0	0.0008	0.0002652	41	154602	rs367560509	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0002	0.0008	0.0007	0.0002	0.0011	0.0004	0	1.959e-05	0.0016	0.0001	0.0005	0.0009	0.0002	0.0002	6.423e-05	0.0004	0.0014	0.0002	0.0002	0.0007	0.0005	0.0001	0	0.0010	0.0003	0	0.0002	0.0034	4.41e-05	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2004.11	34	chr1	6468202	.	G	A	2004.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.000e-02;DP=882;ExcessHet=0.1072;FS=3.767;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=1.32;SOR=0.449	GT:AD:DP:GQ:PL	0/1:34,40:74:99:1028,0,853	19	0	2	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	0/1:79,91:170:99:3533,0,3017	10	0	11	0
chr1	42746620	42746620	G	A	UTR3	P3H1	NM_001243246:c.*292C>T;NM_022356:c.*77C>T;NM_001146289:c.*213C>T	.	.	Osteogenesis imperfecta, type VIII, Autosomal recessive	.	4	1360	148	10	0	168	0.0581717	.	.	864417	Osteogenesis_imperfecta_type_8|Osteogenesis_Imperfecta,_Recessive|not_provided	MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN239451|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0551118	.	.	.	.	.	.	.	.	0.0076778	1187	154602	rs13871	0.0436	0.0414	0.0433	0.0438	0.1156	0.0432	0.0431	0.1122	0.1107	0.1156	0.0412	0.0608	0.0006	0.0280	0.0708	0.0423	0.0477	0.0545	0.0588	0.0589	0.0597	0.0578	0.1060	0.0577	0.0573	0.1034	0.1023	0.1060	0.0844	0.0468	0.0605	0.0012	0.0308	0.0646	0.0408	0.0678	0.0558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1694.92	28	chr1	42746620	.	G	A	1694.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=3.14;DP=525;ExcessHet=0.6776;FS=1.017;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=17.47;ReadPosRankSum=0.394;SOR=0.900	GT:AD:DP:GQ:PL	0/1:12,12:24:99:398,0,302	17	0	4	0
chr1	42757818	42757818	C	T	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon5:c.G1045A:p.G349R	Osteogenesis imperfecta, type VIII, Autosomal recessive	.	0	1359	156	7	0	170	0.0588643	.	.	365182	Osteogenesis_imperfecta_type_8|not_specified|Osteogenesis_Imperfecta,_Recessive	MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN169374|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.89	M	-1.66	D	-0.536	T	0.067	T	0.492	4.366	23.0	5.84	2.769	7.487	17.643	0.551	.	0.0655	0.0549121	0.0448	0.1086	0.0364	0.0016	0.0281	0.0410	0.0419	0.0555	0.0444626	6874	154602	rs6700677	0.0430	0.0430	0.0427	0.0433	0.1150	0.0427	0.0426	0.1120	0.1107	0.1150	0.0399	0.0612	0.0007	0.0277	0.0758	0.0414	0.0471	0.0547	0.0586	0.0587	0.0595	0.0577	0.1058	0.0576	0.0572	0.1032	0.1022	0.1058	0.0846	0.0467	0.0605	0.0012	0.0310	0.0646	0.0407	0.0681	0.0557	0.002	0.72154	D	0.006	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.235	0.89610	M	-1.66	0.82715	D	-4.54	0.81030	D	0.469	0.50508	-0.5361	0.67311	T	0.067	0.27640	T	10	0.0021423697	0.00031	T	.	.	.	0.551	0.81427	0.309	0.28128	.	.	0.6843972499464513	0.68378	0.800589739096	0.66227	0.689329564571	0.65610	T	0.482556	0.81065	T	-0.221005	0.17857	T	-0.00338102	0.70117	D	0.0414313809427587	0.03951	T	0.870113	0.57479	D	0.57059675	0.71093	0.4587038	0.68551	0.6272012	0.74149	0.48363465	0.70106	-11.724	0.83687	D	0.7061372760979174	0.78576	0.255	0.67264	B	.;.;.	.;.;.	4.831024	0.78774	27.0	0.99938680313730954	0.99698	0.99073	0.90830	D	AEFDGBI	0.951807	0.96671	D	0.841087739919886	0.88593	9.637593	0.781041610301148	0.88444	9.584876	0.999999999999953	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	7.568000	0.81546	4.888000	0.45735	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	17.643	0.88045	507	0.75469	.;.;.	RP5-994D16.3|P3H1|CLDN19	Brain_Cerebellum|Cells_Cultured_fibroblasts|Nerve_Tibial	.	.	rs6700677	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	1	0	0.09524	6117.92	44	chr1	42757818	.	C	T	6117.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.259;DP=1192;ExcessHet=0.6776;FS=3.217;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=0.518;SOR=0.511	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1297,0,1599	17	0	4	0
chr1	42766833	42766833	C	A	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon1:c.G139T:p.A47S	Osteogenesis imperfecta, type VIII, Autosomal recessive	.	0	1410	108	4	0	116	0.0395095	.	.	365092	Osteogenesis_imperfecta_type_8|not_specified|Osteogenesis_imperfecta|Osteogenesis_Imperfecta,_Recessive	MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN169374|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	0.047	B	0.02	B	0.023	N	0.983	N	-0.05	N	1.22	T	-1.056	T	0.004	T	0.164	2.105	13.00	3.23	0.940	2.122	9.280	0.014	.	0.0423	0.0397364	0.0327	0.0842	0.0234	0.0018	0.0196	0.0294	0.0287	0.0465	0.030116	4656	154602	rs55716016	0.0318	0.0317	0.0315	0.0320	0.0836	0.0315	0.0314	0.0810	0.0799	0.0836	0.0234	0.0391	0.0008	0.0178	0.0411	0.0310	0.0319	0.0442	0.0414	0.0414	0.0421	0.0408	0.0757	0.0406	0.0402	0.0735	0.0726	0.0757	0.0844	0.0249	0.0389	0.0012	0.0210	0.0374	0.0296	0.0510	0.0439	0.387	0.11696	T	0.381	0.16086	T	0.047	0.21998	B	0.013	0.19048	B	0.022525	0.26616	N	0.389923	0.982945	0.24924	N	1.115	0.28702	L	1.22	0.37052	T	-0.34	0.13805	N	0.09	0.08227	-1.0561	0.12750	T	0.004	0.01261	T	10	0.0025526285	0.00039	T	.	.	.	0.014	0.01968	.	.	.	.	0.5244746260840524	0.52371	0.94384216601	0.72326	0.834239780903	0.87213	D	0.063977	0.32315	T	-0.571166	0.00218	T	-0.534036	0.18886	T	0.019137867165652	0.00621	T	0.570643	0.28992	T	0.052076228	0.09659	0.07407858	0.16166	0.066501446	0.14315	0.11549822	0.27881	-4.743	0.33920	T	0.09429628071394193	0.06295	0.077	0.06433	B	.;.;.;.	.;.;.;.	2.450515	0.31553	18.78	0.9420826326093541	0.24448	0.18604	0.20328	N	ALL	0.127930	0.24549	N	-0.485070535527865	0.22570	1.206057	-0.311555900562568	0.27725	1.540484	0.999999999999537	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.16	3.23	0.36150	0.206000	0.17174	2.498000	0.33015	0.533000	0.24879	0.994000	0.38300	1.000000	0.68203	0.891000	0.42908	0.2134:0.7866:0.0:0.0	9.280	0.36881	507	0.75469	.;.;.;.	RP5-994D16.3|RP5-994D16.3|CLDN19|P3H1	Brain_Cerebellum|Nerve_Tibial|Nerve_Tibial|Testis	.	.	rs55716016	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	0.09524	11418.92	40	chr1	42766833	.	C	A	11418.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.51;DP=1584;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=0.367;SOR=0.703	GT:AD:DP:GQ:PL	0/1:99,112:211:99:2862,0,2281	17	0	4	0
chr1	46188819	46188819	G	A	exonic	POMGNT1	.	nonsynonymous SNV	POMGNT1:NM_001243766:exon23:c.C2147T:p.A716V,	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, Autosomal recessive;Retinitis pigmentosa 76, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282490	not_provided|Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O	MedGen:C3661900|MedGen:CN239202|MONDO:MONDO:0013161,MedGen:C3150417,OMIM:613157,Orphanet:206564	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.0	B	0.654	N	1.000	N	.	.	1.32	T	-1.016	T	0.029	T	0.098	2.330	13.75	0.939	0.195	0.432	1.818	0.056	.	0.0031	0.00479233	0.0010	0.0113	0.0016	0	0	1.591e-05	0	0	0.0009379	145	154602	rs148903585	0.0004	0.0004	0.0005	0.0003	0.0116	0.0003	0.0003	0.0106	0.0103	0.0116	0.0011	0	0	1.912e-05	0.0003	2.338e-05	0.0009	2.319e-05	0.0034	0.0034	0.0035	0.0034	0.0114	0.0032	0.0031	0.0106	0.0102	0.0114	0	0.0021	0	0	0	0	0.0001	0.0028	0	0.079	0.33753	T	.	.	.	.	.	.	.	.	.	0.654225	0.05941	N	1.250850	1	0.08975	N	.	.	.	1.32	0.35219	T	0.25	0.04456	N	0.1	0.08227	-1.0163	0.24916	T	0.029	0.12497	T	9	0.0029322803	0.00047	T	.	.	.	0.056	0.15993	.	.	0.159798565429	0.15598	0.06121373546112708	0.06061	0.503832317247	0.48685	0.333447396755	0.15454	T	.	.	.	-0.602559	0.00141	T	-0.627923	0.10573	T	0.00885504612654988	0.00110	T	0.205679	0.02432	T	.	.	.	.	.	.	.	.	-3.951	0.23068	T	.	.	0.094	0.14477	B	.	.	0.131557	0.05272	1.769	0.99615665860858893	0.75112	0.09251	0.15045	N	ALL	0.116119	0.22803	N	-0.71341910840986	0.15644	0.7902055	-0.731292514315385	0.16183	0.8548759	0.999502253849179	0.40062	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.62	0.939	0.18631	0.471000	0.21811	-0.672000	0.07929	-0.127000	0.13314	0.005000	0.17040	0.000000	0.08366	0.802000	0.37819	0.153:0.1754:0.4905:0.1811	1.818	0.02917	92	0.96160	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1237.98	37	chr1	46188819	.	G	A	1237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.220e-01;DP=811;ExcessHet=0.0000;FS=2.379;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-1.090e+00;SOR=0.759	GT:AD:DP:GQ:PL	0/1:66,52:118:99:1252,0,1674	20	0	1	0
chr1	55039879	55039879	-	CTGCTG	exonic	PCSK9	.	nonframeshift insertion	PCSK9:NM_174936:exon1:c.42_43insCTGCTG:p.L23_G24insLL,	Hypercholesterolemia, familial, 3	.	4	1235	252	23	8	306	0.107659	.	.	260592	not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|not_specified|Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia	MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0022	0	0.0071	0	0	0.0043	0	0.0005	0.0009961	154	154602	rs35574083	0.0033	0.0032	0.0033	0.0032	0.0036	0.0032	0.0032	0.0034	0.0033	0.0006	0.0028	0.0083	5.416e-05	0.0041	0.0036	0.0035	0.0036	0.0009	0.0027	0.0027	0.0028	0.0026	0.0037	0.0025	0.0024	0.0029	0.0027	0.0010	0.0132	0.0037	0.0101	0	0.0031	0	0.0032	0.0043	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	9159.26	78	chr1	55039879	.	A	ACTG,ACTGCTG	9159.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=0.224;DP=1096;ExcessHet=1.7912;FS=0.533;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=20.63;ReadPosRankSum=1.11;SOR=0.729	GT:AD:DP:GQ:PL	0/1:27,33,0:60:99:1304,0,1027,1386,1127,2512	15	0	5	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	1/1:0,184:184:99:5628,552,0	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	0/1:26,13:39:99:466,0,1052	7	2	12	0
chr1	100206310	100206310	-	A	intronic	DBT	.	.	.	Maple syrup urine disease, type II, Autosomal recessive	.	0	104	85	27	10	149	0.400576	.	.	190799	not_provided|Maple_syrup_urine_disease	MedGen:C3661900|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226	0.0424	0.0181	0.0374	0.0145	0.0191	0.0287	0.0255	0.021261	3287	154602	rs566272048	0.0260	0.0567	0.0266	0.0253	0.0502	0.0257	0.0256	0.0479	0.0470	0.0502	0.0193	0.0291	0.0282	0.0179	0.0337	0.0260	0.0280	0.0217	0.0008	0.0011	0.0008	0.0008	0.0007	0.0007	0.0006	0.0005	0.0005	0.0006	0	0.0007	0.0047	0.0002	0.0010	0	0.0007	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	9643.85	33	chr1	100206310	.	T	A,TA	9643.85	.	AC=11,5;AF=0.262,0.119;AN=42;BaseQRankSum=-5.020e-01;DP=1443;ExcessHet=4.5793;FS=1.104;InbreedingCoeff=-0.1912;MLEAC=11,4;MLEAF=0.262,0.095;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-5.090e-01;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,54,0:111:99:.:.:1329,0,1428,1499,1588,3087	7	1	8	0
chr1	119727080	119727080	G	A	exonic	PHGDH	.	nonsynonymous SNV	PHGDH:NM_006623:exon5:c.G488A:p.R163Q,	Neu-Laxova syndrome 1, Autosomal recessive;Phosphoglycerate dehydrogenase deficiency, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	143179	not_provided|PHGDH_deficiency|Neu-Laxova_syndrome_1	MedGen:C3661900|MONDO:MONDO:0011152,MedGen:C1866174,OMIM:601815,Orphanet:79351|MONDO:MONDO:0009736,MedGen:C4551478,OMIM:256520,Orphanet:2671,Orphanet:583607	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.615	H	-1.53	D	0.730	D	0.766	D	0.882	6.034	37	5.83	2.769	9.728	18.682	0.968	0.522875780875	.	.	8.248e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs587777483	4.82e-06	7.526e-06	4.115e-06	5.531e-06	2.522e-05	2e-06	1.29e-06	8.5e-07	5.7e-07	0	0	0	2.522e-05	0	0	3.626e-06	1.664e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.915	0.84231	M	-1.53	0.81559	D	-3.95	0.73477	D	0.908	0.90932	0.730	0.93547	D	0.766	0.92040	D	10	0.9194493	0.91301	D	0.522876	0.95473	D	0.968	0.99597	0.703	0.83962	0.963768508205	0.96337	0.8678554530528497	0.86750	0.944994080329	0.72380	0.577394008636	0.49719	T	0.922284	0.98619	D	0.353777	0.86771	D	0.367254	0.90971	D	0.991514325141907	0.81819	D	0.938806	0.77799	D	0.9711548	0.98367	0.93692476	0.97564	0.97759515	0.98921	0.95218337	0.98530	-13.08	0.89690	D	0.8093713931170455	0.88463	0.729	0.74143	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	6.706169	0.95620	35	0.99961983653131414	0.99998	0.97188	0.73208	D	AEFDBCI	0.940178	0.94179	D	1.09868009541036	0.98110	17.45019	1.03752135420388	0.99230	21.350	1.0	0.98316	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.83	5.83	0.93059	9.853000	0.98388	11.567000	0.93263	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.682	0.91510	752	0.51611	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1793.98	45	chr1	119727080	.	G	A	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=861;ExcessHet=0.0000;FS=0.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.83;ReadPosRankSum=1.25;SOR=0.832	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1808,0,1401	20	0	1	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	0/3:27,0,2,32,6:72:99:1325,1421,2348,1367,2002,1958,0,1001,574,1119,694,1620,1257,845,1501	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	1/2:3,21,15,0:39:99:.:.:1072,324,288,412,0,487,967,399,519,1025	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	1/2:3,21,15,0:39:99:.:.:1072,324,288,412,0,487,967,399,519,1025	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	1/2:3,21,15,0:39:99:.:.:1072,324,288,412,0,487,967,399,519,1025	3	0	13	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	1/1:0,101:101:99:3032,303,0	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	1/1:0,199:199:99:6273,596,0	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|1:236,58:294:99:0|1:196743447_T_C:1611,0,9407:196743447	10	0	11	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	1/1:0,121:121:99:4024,363,0	0	21	0	0
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG|not_provided	MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	7102.5	88	chr1	236897645	.	CT	C,CTT	7102.5	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=0.279;DP=1850;ExcessHet=6.4157;FS=0.544;InbreedingCoeff=-0.2872;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=-6.480e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:50,9,0:59:57:57,0,1029,206,1056,1262	6	1	13	0
chr1	237833281	237833281	-	A	UTR3	RYR2	NM_001035:c.*634_*635insA	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	1408	66	5	15	28	63	0.209581	.	.	280387	not_provided|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs377407067	0.2755	0.0041	0.2917	0.2703	.	0.1945	0.1673	.	.	.	.	.	.	0.2812	.	.	0	.	0.4582	0.4444	0.4668	0.4482	0.5296	0.4549	0.4535	0.5246	0.5225	0.3777	0.5124	0.3661	0.6708	0.0836	0.4726	0.6667	0.5296	0.4907	0.3968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	5237.92	24	chr1	237833281	.	G	GAA,GA	5237.92	.	AC=6,20;AF=0.150,0.500;AN=40;BaseQRankSum=0.164;DP=578;ExcessHet=1.5101;FS=1.093;InbreedingCoeff=-0.0690;MLEAC=6,21;MLEAF=0.150,0.525;MQ=60.00;MQRankSum=0.00;QD=16.63;ReadPosRankSum=0.147;SOR=0.801	GT:AD:DP:GQ:PL	0/2:15,2,16:33:99:328,304,783,0,324,283	2	0	2	1
chr1	240207709	240207709	T	C	exonic	FMN2	.	nonsynonymous SNV	FMN2:NM_020066:exon5:c.T2897C:p.L966P	Mental retardation, autosomal recessive 47, Autosomal recessive	.	556	964	2	0	0	2	0.00103627	.	.	215202	FMN2-related_disorder|not_provided|not_specified|Intellectual_disability,_autosomal_recessive_47	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014524,MedGen:C4015444,OMIM:616193,Orphanet:88616	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	-3.125	N	0.78	T	-0.972	T	0.016	T	0.196	0.366	5.985	0.563	-0.186	-0.053	4.165	0.094	0.114056569858	.	0.00139776	0.0013	0.0072	0.0019	0	0.0005	0.0008	0.0023	0.0006	0.0001617	25	154602	rs200975594	0.0037	0.0070	0.0035	0.0039	0.0136	0.0036	0.0036	0.0127	0.0123	0.0132	0.0086	0.0039	0.0056	0.0034	0.0057	0.0025	0.0053	0.0136	0.0466	0.0557	0.0493	0.0437	0.0580	0.0441	0.0431	0.0525	0.0503	0.0580	0.0741	0.0420	0.0381	0.0341	0.0309	0.0588	0.0454	0.0276	0.0396	0.143	0.25355	T	0.216	0.26226	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-3.185	0.00008	N	0.78	0.49358	T	-0.58	0.17417	N	0.254	0.28732	-0.9719	0.36798	T	0.016	0.06616	T	8	0.003649056	0.00067	T	0.114057	0.79277	D	0.094	0.27141	.	.	0.426936546926	0.42313	0.14121591293709643	0.14044	0.150261639114	0.16946	0.564047217369	0.47838	T	0.043929	0.26657	T	-0.589517	0.00169	T	-0.6119	0.11831	T	0.00606146463339103	0.00067	T	0.374563	0.08910	T	0.062234815	0.12976	0.051588953	0.08332	0.062234815	0.12975	0.051588953	0.08332	2.186	0.00044	T	.	.	0.042	0.00022	B	.	.	0.541106	0.09098	5.880	0.48336642649565542	0.04025	0.00056	0.00418	N	AEFDBI	0.026881	0.02097	N	-1.64557413891872	0.01054	0.04572402	-1.53757360393947	0.02062	0.0943117	0.0114573090883977	0.12187	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.67	0.563	0.16481	-0.267000	0.08648	-3.753000	0.02560	-0.771000	0.03446	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1513:0.4956:0.0:0.353	4.165	0.09765	976	0.04745	Formin Homology 1|Formin, FH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	119.98	87	chr1	240207709	.	T	C	119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.44;DP=1420;ExcessHet=0.0000;FS=3.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.24;MQRankSum=-1.600e-01;QD=1.60;ReadPosRankSum=-1.526e+00;SOR=1.070	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,8:75:99:1|0:240207641_T_C:134,0,2789:240207641	20	0	1	0
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	1/2:1,15,6,0,0,0,0:22:99:588,136,99,329,0,349,549,161,364,566,549,161,364,566,566,549,161,364,566,566,566,549,161,364,566,566,566,566	0	0	1	1
chr2	10046292	10046292	A	G	exonic	KLF11	.	nonsynonymous SNV	KLF11:NM_001177716:exon2:c.A134G:p.Q45R	Maturity-onset diabetes of the young, type VII	.	0	1178	317	27	0	371	0.136047	.	.	134877	not_provided|Maturity-onset_diabetes_of_the_young_type_7|Type_2_diabetes_mellitus|not_specified	MedGen:C3661900|MONDO:MONDO:0012513,MedGen:C1864839,OMIM:610508,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	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.003	B	0.003	B	0.075	N	0.776	P	2.215	M	2.54	T	-1.045	T	0.004	T	0.079	1.637	11.43	-0.464	-0.043	2.349	5.936	0.069	.	0.0948	0.0579073	0.0926	0.0485	0.0715	0.0007	0.0784	0.1210	0.0982	0.0743	0.0938216	14505	154602	rs35927125	0.1101	0.1101	0.1108	0.1094	0.1420	0.1096	0.1095	0.1339	0.1307	0.0445	0.0737	0.1436	0.0003	0.0785	0.1420	0.1213	0.1021	0.0731	0.0876	0.0877	0.0903	0.0849	0.1190	0.0864	0.0859	0.1168	0.1159	0.0466	0.2281	0.0887	0.1375	0.0012	0.0684	0.1054	0.1190	0.0993	0.0624	0.234	0.40319	T	0.112	0.37037	T	0.003	0.11197	B	0.003	0.08700	B	0.074747	0.21265	N	0.531770	0.775729	0.29388	P	2.245	0.63543	M	-0.08	0.64264	T	-1.66	0.39692	N	0.077	0.07811	-1.0450	0.15825	T	0.004	0.01159	T	9	0.0014551878	0.00016	T	.	.	.	0.069	0.20116	.	.	.	.	0.11116927843056919	0.11045	0.0220195940858	0.02206	0.381488621235	0.22467	T	0.106617	0.58414	T	-0.561062	0.00250	T	-0.481987	0.24234	T	0.00582005920212492	0.00064	T	0.444056	0.12562	T	0.122069955	0.28691	0.104471974	0.25093	0.122609735	0.28808	0.09206602	0.21677	-2.617	0.06657	T	.	.	0.083	0.50826	B	.;.;.;.;.;.	.;.;.;.;.;.	1.834154	0.23302	15.96	0.97094580005344999	0.32340	0.78478	0.38724	D	AEFGBCI	0.264108	0.38152	N	-0.478553388836769	0.22785	1.219059	-0.479352045089021	0.22723	1.23563	0.999904591183748	0.45458	0.634777	0.41761	0	0.633656	0.55848	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.03	-0.464	0.11553	2.091000	0.41316	1.400000	0.26189	0.756000	0.94297	0.895000	0.31310	0.998000	0.33993	0.953000	0.50222	0.6594:0.1265:0.214:0.0	5.936	0.18406	813	0.42397	.;.;.;.;.;.	RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Vagina|Whole_Blood	.	.	rs35927125	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	0.119	6211.44	35	chr2	10046292	.	A	G	6211.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.669e+00;DP=1178;ExcessHet=1.1607;FS=3.228;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-1.009e+00;SOR=0.731	GT:AD:DP:GQ:PL	0/1:67,66:133:99:1553,0,1766	16	0	5	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	1/1:1,142:143:99:4639,386,0	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	0/2:33,6,25:85:99:372,376,1819,0,823,715	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	0/1:28,32,0,0:60:99:667,0,543,751,639,1390,751,639,1390,1390	1	5	12	0
chr2	71682612	71682612	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon53:c.A6097G:p.I2033V	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	0	1513	8	1	0	10	0.00329381	.	.	100253	Miyoshi_myopathy|Qualitative_or_quantitative_defects_of_dysferlin|not_provided|Limb-girdle_muscular_dystrophy,_recessive|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Miyoshi_muscular_dystrophy_1	MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:C3661900|MedGen:CN239352|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.861	P	0.719	P	0.000	D	0.968	D	1.5	L	-1.96	D	-0.004	T	0.552	D	0.279	3.331	17.21	3.86	2.034	1.614	9.250	0.287	0.0376093905226	0.0002	0.000998403	0.0004	0.0002	0.0008	0	0	0.0002	0	0.0013	0.0003687	57	154602	rs150834671	0.0004	0.0004	0.0004	0.0004	0.0019	0.0004	0.0004	0.0011	0.0010	5.974e-05	0.0005	0	0	0	0.0019	0.0004	0.0003	0.0013	0.0002	0.0002	0.0003	0.0001	0.0010	0.0002	0.0001	0.0004	0.0003	9.641e-05	0	0.0005	0	0	0	0	0.0003	0	0.0010	0.009	0.58626	D	0.09	0.42436	T	0.861	0.47410	P	0.672	0.54822	P	0.000130	0.49741	D	0.200820	0.945508	0.38651	D	2.37	0.68279	M	-1.97	0.85173	D	-0.73	0.20576	N	0.313	0.36043	-0.0037	0.82179	T	0.552	0.83611	D	10	0.0332371	0.01495	T	0.037609	0.57720	D	0.287	0.60574	.	.	0.682595736848	0.67989	0.5128477279156468	0.51206	0.125644526005	0.14166	0.451496750116	0.32149	T	0.618363	0.88002	D	-0.271249	0.11618	T	-0.207958	0.53891	T	0.0358344118829158	0.02951	T	0.881912	0.60169	D	0.11803938	0.27819	0.16269685	0.37779	0.11803938	0.27818	0.16269685	0.37778	-6.71	0.51886	T	0.2355381310636637	0.31893	0.085	0.09965	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.201725	0.43545	21.8	0.99855697884841543	0.93458	0.94693	0.62006	D	AEFDBI	0.641005	0.61849	D	0.188791092334703	0.50661	3.254016	0.243024779817554	0.52254	3.401438	0.999102726669899	0.38452	0.706548	0.73137	0	0.59043	0.45803	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.1	3.86	0.43689	1.672000	0.37139	.	.	0.756000	0.94297	0.982000	0.35529	1.000000	0.68203	0.998000	0.85391	0.8383:0.0:0.0:0.1617	9.250	0.36707	643	0.63827	.;.;.;.;Ferlin, C-terminal 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	2370.98	34	chr2	71682612	.	A	G	2370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.286;DP=941;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=1.02;SOR=0.692	GT:AD:DP:GQ:PL	0/1:136,106:242:99:2385,0,3315	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	1/1:0,3:3:9:122,9,0	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	1/1:0,3:3:9:91,9,0	2	8	1	10
chr2	113063003	113063003	C	A	UTR3	IL36RN	NM_173170:c.*326C>A;NM_012275:c.*326C>A	.	.	Psoriasis 14, pustular, Autosomal recessive	.	1153	102	28	239	0	506	0.712676	.	.	283612	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	.	.	.	.	.	.	.	.	0.641694	16702	26028	rs2515402	0.6503	0.5392	0.6312	0.6662	0.7952	0.6475	0.6464	0.7882	0.7853	0.7079	0.6852	0.6657	0.7045	0.6007	0.7372	0.5959	0.6436	0.7952	0.6523	0.6524	0.6493	0.6555	0.8017	0.6489	0.6475	0.7806	0.7720	0.7070	0.7582	0.6634	0.6888	0.7075	0.6290	0.7381	0.6006	0.6879	0.8017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	449.55	2	chr2	113063003	.	C	A	449.55	.	AC=9;AF=0.500;AN=18;BaseQRankSum=0.00;DP=60;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4363;MLEAC=15;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=28.10;ReadPosRankSum=0.00;SOR=0.976	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	4	1	12
chr2	113063078	113063078	A	T	UTR3	IL36RN	NM_173170:c.*401A>T;NM_012275:c.*401A>T	.	.	Psoriasis 14, pustular, Autosomal recessive	.	1209	73	21	219	0	459	0.758678	.	.	282259	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108032	16702	154602	rs3180234	0.6596	0.4268	0.6382	0.6777	0.8001	0.6565	0.6553	0.7925	0.7894	0.6759	0.6937	0.6753	0.7131	0.6192	0.7623	0.6046	0.6542	0.8001	0.6407	0.6407	0.6374	0.6442	0.8010	0.6373	0.6359	0.7799	0.7713	0.6662	0.7582	0.6591	0.6886	0.7087	0.6294	0.7347	0.6006	0.6796	0.8010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	536.07	1	chr2	113063078	.	A	T	536.07	.	AC=10;AF=0.500;AN=20;BaseQRankSum=0.00;DP=65;ExcessHet=0.0059;FS=0.000;InbreedingCoeff=0.3546;MLEAC=17;MLEAF=0.850;MQ=60.00;MQRankSum=0.00;QD=23.31;ReadPosRankSum=0.00;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	4	2	11
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|1:28,25:53:99:0|1:171448665_C_CT:937,0,1101:171448665	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|1:28,25:53:99:0|1:171448665_C_CT:937,0,1101:171448665	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	0/2:36,0,34:70:99:731,839,1743,0,904,802	5	0	3	0
chr2	178431939	178431939	T	C	ncRNA_intronic	CHROMR	.	.	.	.	.	60	1169	290	3	0	296	0.112377	.	.	283886	not_provided|Dystonia_16	MedGen:C3661900|MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122138	3179	26028	rs3997877	0.2943	0.2403	0.3023	0.2867	0.3147	0.2932	0.2928	0.3134	0.3128	0.1778	0.2978	0.2815	0.3023	0.2193	0.2375	0.3147	0.2731	0.2033	0.2253	0.2283	0.2273	0.2233	0.2781	0.2233	0.2225	0.2660	0.2612	0.1598	0.3223	0.2653	0.2686	0.2781	0.2030	0.2021	0.2530	0.2250	0.2176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	1605.57	12	chr2	178431939	.	T	C	1605.57	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-2.690e-01;DP=295;ExcessHet=2.5830;FS=8.898;InbreedingCoeff=-0.2415;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=7.99;ReadPosRankSum=-2.450e-01;SOR=1.381	GT:AD:DP:GQ:PL	0/1:10,6:16:99:193,0,353	13	0	7	1
chr2	178436319	178436319	-	TAAAGAAATGTGGTTCTCTGGAGAAATATTACTAAATTTGGCAAGAAATTTCTCAGCAGCATTC	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon6:c.576_577insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA:p.T193Efs*4	Dystonia 16, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1037095	Dystonia_16	MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0007	0.0003	0.0005	0	0.0005	0	0	0.000461	12	26028	.	0.0004	0.0005	0.0003	0.0006	0.0129	0.0004	0.0004	0.0106	0.0097	5.978e-05	8.947e-05	0.0001	0.0007	0.0011	0.0129	0.0004	0.0003	0.0004	0.0010	0.0015	0.0010	0.0010	0.0016	0.0009	0.0008	0.0010	0.0009	0.0005	0.0011	0.0009	0.0006	0.0016	0.0010	0.0068	0.0012	0.0009	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1646.07	75	chr2	178436319	.	T	TTAAAGAAATGTGGTTCTCTGGAGAAATATTACTAAATTTGGCAAGAAATTTCTCAGCAGCATTC	1646.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.08;DP=1193;ExcessHet=0.1072;FS=7.603;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.85;ReadPosRankSum=0.217;SOR=0.335	GT:AD:DP:GQ:PL	0/1:67,23:90:99:759,0,2707	19	0	2	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	0/1:114,22:151:99:154,0,2556	7	0	14	0
chr2	178550237	178550237	T	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon165:c.A64406T:p.D21469V	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	.	.	.	.	.	.	.	.	.	.	56676	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Cardiovascular_phenotype|TTN-related_disorder|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|Cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|.|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.991	D	0.864	P	.	.	1.000	D	2.765	M	-0.15	T	0.199	D	0.537	D	0.614	1.998	12.64	5.74	2.317	7.052	16.343	0.471	0.119355227916	0.0008	0.000399361	0.0009	0	0.0002	0	0.0029	0.0013	0	0.0003	0.0008926	138	154602	rs182549226	0.0010	0.0010	0.0010	0.0009	0.0010	0.0009	0.0009	0.0010	0.0010	8.973e-05	0.0002	0	0	0.0036	0.0002	0.0010	0.0004	0.0004	0.0006	0.0006	0.0006	0.0007	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	6.546e-05	0	0	0.0018	0	0.0010	0.0005	0.0006	0.029	0.48186	D	.	.	.	0.991	0.64070	D	0.864	0.61462	P	.	.	.	.	1	0.81001	D	2.325	0.66631	M	-0.54	0.70950	T	-5.21	0.84457	D	0.452	0.59648	0.199	0.85893	D	0.537	0.82868	D	9	0.034935325	0.01720	T	0.119355	0.79963	D	0.471	0.76487	.	.	0.743760114796	0.74146	.	.	0.47277561626	0.46512	0.427034467459	0.28804	T	.	.	.	-0.252765	0.13762	T	-0.154871	0.58810	T	0.11055860818733	0.13481	T	0.927007	0.73102	D	.	.	.	.	.	.	.	.	-8.252	0.62774	D	.	.	0.329	0.55152	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.264027	0.28933	17.96	0.63969966799423339	0.07366	0.99652	0.98359	D	AEFBI	0.907506	0.86161	D	0.674643851832488	0.77971	6.778615	0.605310029458203	0.75324	6.290557	0.999999999659005	0.74766	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.74	5.74	0.90070	3.429000	0.52567	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.738000	0.35369	0.0:0.0:0.0:1.0	16.343	0.82925	535	0.73288	.;.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1908.98	42	chr2	178550237	.	T	A	1908.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.170e-01;DP=984;ExcessHet=0.0000;FS=1.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=1.29;SOR=0.830	GT:AD:DP:GQ:PL	0/1:75,76:151:99:1923,0,1897	20	0	1	0
chr2	178647041	178647044	TATA	-	intronic	TTN	.	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	13	40	104	7	62	180	0.59596	.	.	189623	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0482	0.1273	0.1042	0.0096	0.0474	0.0241	0	0.0491	0.0016235	251	154602	rs1459735441	0.0244	0.0273	0.0245	0.0244	0.0813	0.0241	0.0239	0.0771	0.0754	0.0813	0.0606	0.0341	0.0286	0.0250	0.0346	0.0212	0.0322	0.0376	0.0001	0.0008	0.0001	0.0002	0.0005	9.801e-05	8.172e-05	9.488e-05	5.662e-05	7.556e-05	0	0.0003	0	0	0.0009	0	3.086e-05	0.0010	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5500.35	31	chr2	178647040	.	GTATA	GTA,G,GTATATA	5500.35	.	AC=17,2,4;AF=0.405,0.048,0.095;AN=42;BaseQRankSum=0.672;DP=552;ExcessHet=21.3848;FS=6.022;InbreedingCoeff=-0.6389;MLEAC=17,2,4;MLEAF=0.405,0.048,0.095;MQ=59.99;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-3.040e-01;SOR=1.127	GT:AD:DP:GQ:PL	0/3:15,4,2,5:28:96:125,96,626,109,613,861,0,392,447,473	1	0	14	0
chr2	178663311	178663311	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon173:c.T36655G:p.L12219V,	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	73	1266	106	77	0	260	0.0931232	.	.	221130	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:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.83	T	0.0	B	0.001	B	.	.	1.000	P	.	.	.	.	-0.980	T	0.032	T	0.032	-0.241	2.839	-4.3	-1.491	-7.146	4.794	0.016	.	.	.	0.0150	0.0175	0.0142	0.0246	0.0064	0.0084	0.0161	0.0471	0.0001153	3	26028	rs12994774	0.1053	0.1441	0.0997	0.1110	0.4941	0.1048	0.1046	0.4879	0.4853	0.1766	0.1914	0.1555	0.4941	0.1269	0.1625	0.0697	0.1437	0.2890	0.1768	0.2604	0.1773	0.1762	0.4475	0.1748	0.1739	0.4281	0.4203	0.2099	0.4255	0.2226	0.1839	0.4475	0.1409	0.2125	0.1303	0.1755	0.3076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	0.1	0.61326	T	.	.	.	0.026	0.00527	-0.9795	0.35117	T	0.032	0.13548	T	6	0.0017544031	0.00022	T	.	.	.	.	.	.	.	.	.	.	.	0.0842442114282	0.09510	.	.	.	.	.	.	-0.363034	0.03962	T	-0.75925	0.03139	T	0.000459135104007003	0.00004	T	0.0683932	0.00498	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.212283	0.00518	0.012	0.6304760633085309	0.07121	0.00290	0.01555	N	AEFBI	0.049581	0.08580	N	-2.27256405002745	0.00053	0.002253834	-2.33442631479677	0.00056	0.002438733	0.00319315519440736	0.09983	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.22	-4.3	0.03454	-4.205000	0.00312	.	.	-2.188000	0.00360	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3266:0.2877:0.0:0.3857	4.794	0.12634	426	0.81110	.	.	.	.	.	.	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	0.1	393.34	41	chr2	178663311	.	A	C	393.34	.	AC=4;AF=0.100;AN=40;BaseQRankSum=2.65;DP=931;ExcessHet=0.0090;FS=46.223;InbreedingCoeff=0.4690;MLEAC=4;MLEAF=0.100;MQ=40.02;MQRankSum=-1.622e+00;QD=2.49;ReadPosRankSum=1.62;SOR=5.631	GT:AD:DP:GQ:PL	0/1:80,8:88:66:66,0,1996	17	1	2	1
chr2	178698917	178698917	A	-	intronic	TTN	.	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	602	811	65	11	33	120	0.050907	.	.	284061	Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Hypertrophic_cardiomyopathy	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|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|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3475	0.2323	0.3611	0.3926	0.3437	0.3114	0.3652	0.4068	0.0002587	40	154602	rs368277751	0.2822	0.2893	0.2800	0.2846	0.3367	0.2814	0.2810	0.3308	0.3284	0.3185	0.3091	0.3275	0.3367	0.3028	0.2767	0.2747	0.2980	0.3072	0.0042	0.0065	0.0033	0.0052	0.0055	0.0038	0.0037	0.0042	0.0038	0.0019	0	0.0055	0.0081	0.0039	0.0128	0	0.0043	0.0037	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	843.68	31	chr2	178698916	.	TA	T,TAA	843.68	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-8.020e-01;DP=531;ExcessHet=1.7912;FS=2.892;InbreedingCoeff=-0.1674;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=6.49;ReadPosRankSum=0.457;SOR=0.497	GT:AD:DP:GQ:PL	0/1:9,5,5:19:21:72,0,237,21,93,238	15	0	5	0
chr2	178782806	178782806	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon17:c.G2962A:p.V988M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	.	.	.	.	.	.	.	1.0000	1.0	56075	Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Primary_dilated_cardiomyopathy|TTN-related_disorder|Limb-girdle_muscular_dystrophy,_recessive|not_provided|Cardiomyopathy|Cardiovascular_phenotype|Tip-toe_gait|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|.|MedGen:CN239352|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.991	D	0.873	P	.	.	1.000	D	0.975	L	0.14	T	-0.662	T	0.312	T	0.697	3.453	17.70	6.17	2.941	7.792	20.879	0.302	0.616460471336	0.0008	0.000399361	0.0010	0	0.0003	0	0.0021	0.0013	0	0.0007	0.0009379	145	154602	rs142951505	0.0010	0.0010	0.0011	0.0009	0.0011	0.0009	0.0009	0.0010	0.0010	5.983e-05	0.0003	0	0	0.0028	0.0002	0.0011	0.0005	0.0007	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0001	0	0	0.0013	0	0.0010	0.0005	0.0006	0.041	0.43708	D	0.004	0.74150	D	0.623	0.64070	P	0.525	0.61978	P	.	.	.	.	0.999426	0.51612	D	.	.	.	-0.15	0.65192	T	-1.94	0.52451	N	0.641	0.76019	-0.6625	0.62166	T	0.312	0.68246	T	8	0.046984285	0.03958	T	0.61646	0.96667	D	0.302	0.62290	.	.	0.463157528383	0.45941	.	.	0.188335590607	0.21163	0.490644305944	0.37528	T	.	.	.	-0.178515	0.23955	T	-0.0538277	0.66760	D	0.0447470746144121	0.04555	T	0.970803	0.91380	D	.	.	.	.	.	.	.	.	-7.556	0.58003	D	.	.	0.199	0.42259	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.960830	0.94191	33	0.96827669282607332	0.31252	0.98516	0.83613	D	AEFBI	0.968610	0.99106	D	0.563764598555896	0.70926	5.573547	0.680939127118159	0.80933	7.410401	0.999999999998151	0.74766	0.516011	0.20929	0	0.315538	0.05683	2	0.54472	0.12158	0	0.586402	0.36253	0	.	.	6.17	6.17	0.99707	7.879000	0.85694	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.879	0.99870	361	0.84870	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	941.98	35	chr2	178782806	.	C	T	941.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.08;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=0.979;SOR=0.719	GT:AD:DP:GQ:PL	0/1:34,31:65:99:956,0,1028	20	0	1	0
chr2	185796083	185796083	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G8947A:p.G2983S,	.	.	436	1070	16	0	0	16	0.00742115	.	.	707890	FSIP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	0.956	N	1.000	N	0	N	1.12	T	-1.013	T	0.046	T	0.461	-2.054	0.006	-1.84	-0.442	-0.236	10.689	0.098	0.0145428648513	.	0.00179712	0.0032	0	0	0	0	0.0073	0.0051	0.0018	0.0008797	136	154602	rs142675481	0.0034	0.0032	0.0034	0.0034	0.0193	0.0033	0.0033	0.0163	0.0152	0.0009	0.0026	0.0144	0	0.0008	0.0193	0.0034	0.0037	0.0019	0.0026	0.0026	0.0026	0.0027	0.0036	0.0024	0.0023	0.0032	0.0031	0.0006	0	0.0028	0.0168	0	0.0006	0.0034	0.0036	0.0048	0.0025	0.841	0.02803	T	0.921	0.02864	T	.	.	.	.	.	.	0.956254	0.07688	N	1.019820	1	0.08975	N	1.35	0.33515	L	1.12	0.38718	T	-1.78	0.42001	N	0.118	0.10769	-1.0130	0.25975	T	0.046	0.19879	T	8	0.005519718	0.00122	T	0.014543	0.34724	T	0.098	0.28162	.	.	0.0138822411134	0.00435	0.07517808770623123	0.07453	.	.	0.248386114836	0.03599	T	0.052191	0.29091	T	-0.495159	0.00609	T	-0.484182	0.24004	T	0.00956093055494588	0.00124	T	0.570043	0.20293	T	0.030915478	0.02837	0.07118786	0.15215	0.030915478	0.02837	0.07118786	0.15214	-1.606	0.01996	T	.	.	0.088	0.11558	B	.	.	-0.145085	0.03381	0.606	0.40151901440451598	0.02816	0.02581	0.07133	N	AEFHCI	0.044896	0.07278	N	-1.45980862271822	0.02140	0.09420565	-1.52082405954698	0.02184	0.1000747	2.98581108424224E-6	0.01202	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.36	-1.84	0.07387	-0.054000	0.11783	1.375000	0.25987	-0.728000	0.03745	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5665:0.0:0.4335:0.0	10.689	0.45058	756	0.51065	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2062.98	104	chr2	185796083	.	G	A	2062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.732;DP=2060;ExcessHet=0.0000;FS=3.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=-1.620e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:70,74:144:99:2077,0,1982	20	0	1	0
chr2	214792459	214792460	AA	-	intronic	BARD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	285273	Hereditary_cancer-predisposing_syndrome|Breast_neoplasm|not_provided|not_specified	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human_Phenotype_Ontology:HP:0010623,Human_Phenotype_Ontology:HP:0100013,MONDO:MONDO:0021100,MeSH:D001943,MedGen:C1458155|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1322	0.1276	0.1831	0.0588	0.0921	0.1364	0.1358	0.1276	0.0001153	3	26028	rs747897450	0.0862	0.0980	0.0861	0.0862	0.1229	0.0857	0.0856	0.1192	0.1176	0.0813	0.1229	0.0925	0.0282	0.0637	0.1003	0.0873	0.0914	0.0932	0.0618	0.0596	0.0612	0.0624	0.0948	0.0607	0.0602	0.0904	0.0887	0.0529	0.0078	0.0948	0.0589	0.0009	0.0571	0.0720	0.0659	0.0656	0.0521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	1431.23	10	chr2	214792458	.	TAA	TA,T	1431.23	.	AC=8,6;AF=0.250,0.188;AN=32;BaseQRankSum=0.718;DP=282;ExcessHet=0.8727;FS=0.762;InbreedingCoeff=-0.1143;MLEAC=10,6;MLEAF=0.313,0.188;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=1.01;SOR=0.793	GT:AD:DP:GQ:PL	0/1:11,3,0:14:32:32,0,211,65,220,284	5	1	6	5
chr2	233347002	233347002	G	A	UTR3	SAG	NM_000541:c.*90G>A	.	.	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47	.	1	1472	47	2	0	51	0.0170284	.	.	288772	Retinitis_pigmentosa|Oguchi_disease	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0019152,MedGen:C1306122,Orphanet:75382	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0002264	35	154602	rs143418950	0.0021	0.0015	0.0014	0.0027	0.0129	0.0020	0.0020	0.0121	0.0118	0.0003	0.0008	0.0106	6.234e-05	2.171e-05	0.0029	0.0006	0.0025	0.0129	0.0013	0.0013	0.0011	0.0016	0.0133	0.0012	0.0011	0.0107	0.0097	0.0002	0	0.0020	0.0133	0.0004	9.425e-05	0.0068	0.0006	0.0024	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	478.98	36	chr2	233347002	.	G	A	478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.618e+00;DP=757;ExcessHet=0.0000;FS=4.270;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=0.296;SOR=1.692	GT:AD:DP:GQ:PL	0/1:22,16:38:99:493,0,681	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	0/1:69,60:129:99:1381,0,1921	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	0/1:22,8:30:99:210,0,739	8	3	10	0
chr2	240871414	240871414	G	A	exonic	AGXT	.	synonymous SNV	AGXT:NM_000030:exon4:c.G489A:p.L163L,	Hyperoxaluria, primary, type 1, Autosomal recessive	YES	0	1513	9	0	0	9	0.0029654	.	.	200503	Primary_hyperoxaluria,_type_I|not_provided|not_specified|Primary_hyperoxaluria	MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0002474,MedGen:C0020501,OMIM:PS259900,Orphanet:416	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	0.0003	0.0002	0.0003	0	0	0.0005	0	0	0.0001358	21	154602	rs147601535	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	9.024e-05	9.32e-05	0	0	0	0.0016	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	0.0002	0	0	0	0	0	0	0.0003	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	1080.98	34	chr2	240871414	.	G	A	1080.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.160e-01;DP=780;ExcessHet=0.0000;FS=2.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.03;ReadPosRankSum=-2.780e-01;SOR=0.454	GT:AD:DP:GQ:PL	0/1:53,45:98:99:1095,0,1333	20	0	1	0
chr3	12381449	12381449	T	C	exonic	PPARG	.	synonymous SNV	PPARG:NM_001354667:exon3:c.T348C:p.A116A	Carotid intimal medial thickness 1;Insulin resistance, severe, digenic, Autosomal dominant;Lipodystrophy, familial partial, type 3, Autosomal dominant;Obesity, severe, Autosomal recessive, Autosomal dominant, Multifactorial	.	0	1503	18	1	0	20	0.00660939	.	.	292296	not_specified|Obesity|Diabetes_Mellitus,_Noninsulin-Dependent,_with_Acanthosis_Nigricans_and_Hypertension|PPARG-related_familial_partial_lipodystrophy|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529|MedGen:C4016738|MONDO:MONDO:0011448,MedGen:C1720861,OMIM:604367,Orphanet:79083|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00159744	0.0005	0.0005	0.0012	0	0	0.0005	0.0011	0.0006	0.0004916	76	154602	rs147975759	0.0004	0.0004	0.0004	0.0004	0.0085	0.0003	0.0003	0.0066	0.0059	0.0005	0.0020	0.0013	0	0	0.0085	0.0002	0.0010	0.0006	0.0006	0.0006	0.0006	0.0006	0.0025	0.0005	0.0005	0.0019	0.0016	0.0003	0	0.0025	0.0014	0	0	0.0102	0.0003	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	0.04762	1438.11	33	chr3	12381449	.	T	C	1438.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.800e-02;DP=743;ExcessHet=0.1072;FS=4.171;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=2.61;SOR=0.362	GT:AD:DP:GQ:PL	0/1:23,31:54:99:832,0,624	19	0	2	0
chr3	15521729	15521729	-	TG	upstream	COLQ	dist=23	.	.	Myasthenic syndrome, congenital, 5, Autosomal recessive	.	67	130	17	12	0	41	0.136213	.	.	293472	not_provided|Congenital_Myasthenic_Syndrome,_Recessive	MedGen:C3661900|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1179837883	0.1825	0.2084	0.1812	0.1838	0.3061	0.1819	0.1816	0.3005	0.2982	0.3061	0.2555	0.1878	0.2355	0.1166	0.2281	0.1758	0.1937	0.1911	0.2696	0.2733	0.2717	0.2674	0.3754	0.2674	0.2665	0.3703	0.3683	0.3754	0.1670	0.3074	0.2298	0.2766	0.1317	0.2705	0.2249	0.2744	0.2276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3088.27	26	chr3	15521729	.	T	TTG	3088.27	.	AC=11;AF=0.262;AN=42;BaseQRankSum=0.062;DP=734;ExcessHet=7.7275;FS=1.087;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=0.115;SOR=0.769	GT:AD:DP:GQ:PL	0/1:12,6:18:99:166,0,395	10	0	11	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	.	335	305	451	409	22	1291	0.675359	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	7075.96	9	chr3	27721936	.	G	GCGGCGC,GCGC	7075.96	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-5.120e-01;DP=481;ExcessHet=3.4384;FS=3.062;InbreedingCoeff=-0.1455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=22.18;ReadPosRankSum=-4.110e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:17,11,0:28:99:359,0,625,410,658,1068	5	3	12	0
chr3	48564798	48564798	G	A	exonic	COL7A1	.	stopgain	COL7A1:NM_000094:exon118:c.C8803T:p.Q2935X,	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	985813	Epidermolysis_bullosa_pruriginosa|not_provided	MONDO:MONDO:0011398,MedGen:C1275114,OMIM:604129,Orphanet:89843|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.680	N	0.969	D	.	.	.	.	.	.	.	.	.	15.354	49	5.62	2.651	1.994	12.831	.	.	.	.	6.047e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs767051948	3.147e-05	3.147e-05	1.634e-05	4.676e-05	0.0005	2.413e-05	2.158e-05	0.0004	0.0003	0	0	0	0	0	0	2.698e-06	0	0.0005	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.679995	0.10267	N	0.809286	0.781941	0.38731	D	.	.	.	.	.	.	.	.	.	0.692	0.69737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156219	0.69849	D	0.302778	0.88324	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.596376	0.96676	36	0.98683629546127405	0.44652	0.77277	0.37977	D	AEFDGBCI	0.174612	0.30175	N	0.506190872044613	0.67454	5.083947	0.290053345780797	0.54956	3.659417	0.999999901615366	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.620204	0.46100	0	.	.	5.62	5.62	0.85714	2.372000	0.43911	3.759000	0.39711	-0.108000	0.15293	0.873000	0.30851	1.000000	0.68203	0.008000	0.08271	0.0:0.1641:0.8358:0.0	12.831	0.57128	12	0.98946	.	.	.	.	.	.	Pathogenic	1	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	0	0	0.02381	967.98	33	chr3	48564798	.	G	A	967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.304e+00;DP=731;ExcessHet=0.0000;FS=4.138;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.60;ReadPosRankSum=0.841;SOR=1.333	GT:AD:DP:GQ:PL	0/1:21,34:55:99:982,0,552	20	0	1	0
chr3	49099511	49099511	G	A	exonic	QARS1	.	nonsynonymous SNV	QARS1:NM_001272073:exon16:c.C1492T:p.R498W	.	YES	436	1085	1	0	0	1	0.000460617	0.9919	0.844	500312	Diffuse_cerebral_and_cerebellar_atrophy_-_intractable_seizures_-_progressive_microcephaly_syndrome|not_provided	MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760,Orphanet:404437|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.000	D	1.000	D	1.64	L	1.84	T	-1.007	T	0.127	T	0.775	3.987	20.4	4.54	2.770	4.242	13.668	0.227	.	.	0.00299521	0.0013	9.61e-05	0	0.0001	0	0	0	0.0093	0.0011255	174	154602	rs553194272	0.0005	0.0005	0.0003	0.0007	0.0082	0.0005	0.0005	0.0077	0.0075	2.987e-05	4.472e-05	0	5.038e-05	0	0	8.993e-06	0.0005	0.0082	0.0003	0.0003	0.0002	0.0003	0.0083	0.0002	0.0002	0.0063	0.0055	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0083	0.006	0.61437	D	0.01	0.69154	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.044597	0.99999	0.58761	D	1.705	0.44259	L	1.84	0.24656	T	-4.07	0.76822	D	0.865	0.88356	-1.0067	0.27943	T	0.127	0.43401	T	10	0.014571607	0.00306	T	.	.	.	0.227	0.52620	.	.	0.62543842953	0.62239	0.8331987719652475	0.83278	1.05892359154	0.76413	0.815172672272	0.84286	D	0.710045	0.91722	D	-0.275067	0.11199	T	-0.161494	0.58218	T	0.0841564782459829	0.10509	T	0.995834	0.98556	D	0.633909	0.74507	0.36900297	0.62179	0.62762743	0.74172	0.3628885	0.61685	-8.349	0.63825	D	.	.	0.221	0.47481	B	.;.;.;.	.;.;.;.	5.649312	0.92799	33	0.99899131172456357	0.97124	0.88858	0.48992	D	AEFBCI	0.856393	0.77362	D	0.687829418657261	0.78835	6.952282	0.679437843583526	0.80822	7.384667	0.999452224493582	0.39788	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	4.54	0.55220	4.268000	0.58681	4.228000	0.42634	-0.126000	0.13398	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.7189:0.2811	13.668	0.61883	0	0.99858	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain;.;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2802.98	34	chr3	49099511	.	G	A	2802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=933;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.07;ReadPosRankSum=2.25;SOR=0.732	GT:AD:DP:GQ:PL	0/1:84,102:186:99:2817,0,2125	20	0	1	0
chr3	87259754	87259754	-	A	UTR3	POU1F1	NM_000306:c.*139_*140insT;NM_001122757:c.*139_*140insT	.	.	Pituitary hormone deficiency, combined, 1, Autosomal recessive, Autosomal dominant	.	804	554	68	85	11	249	0.17682	.	.	296319	Combined_Pituitary_Hormone_Deficiency,_Recessive|Frontotemporal_dementia	MedGen:CN239344|Human_Phenotype_Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274,Orphanet:282	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0213658	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1301058822	0.0204	0.0247	0.0212	0.0196	0.0427	0.0200	0.0199	0.0398	0.0387	0.0427	0.0192	0.0069	0.0076	0.0241	0.0199	0.0227	0.0216	0.0083	0.0258	0.0258	0.0260	0.0255	0.0387	0.0251	0.0248	0.0371	0.0365	0.0387	0.0011	0.0222	0.0078	0.0044	0.0254	0.0204	0.0229	0.0252	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	1595.07	6	chr3	87259754	.	T	A,TA	1595.07	.	AC=11,2;AF=0.289,0.053;AN=38;BaseQRankSum=-9.920e-01;DP=185;ExcessHet=0.0006;FS=2.244;InbreedingCoeff=0.4596;MLEAC=11,2;MLEAF=0.289,0.053;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.00;SOR=1.066	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,7:7:21:.:.:184,184,184,21,21,0	11	4	3	2
chr3	93927256	93927256	C	T	exonic	PROS1	.	synonymous SNV	PROS1:NM_000313:exon2:c.G228A:p.P76P	Thrombophilia due to protein S deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	889778	Thrombophilia_due_to_protein_S_deficiency,_autosomal_dominant|Thrombophilia_due_to_protein_S_deficiency,_autosomal_recessive	MONDO:MONDO:0012868,MedGen:C3278211,OMIM:612336,Orphanet:26349,Orphanet:743|MONDO:MONDO:0013791,MedGen:C3281092,OMIM:614514,Orphanet:743	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.944e-05	0	8.645e-05	0.0001	0	4.496e-05	0	6.057e-05	3.88e-05	6	154602	rs6121	6.096e-05	6.156e-05	6.406e-05	5.783e-05	0.0007	5.034e-05	4.677e-05	0.0002	0.0001	0	0	3.827e-05	5.04e-05	0	0.0007	6.025e-05	0.0001	0.0001	3.284e-05	3.281e-05	6.427e-05	0	0.0004	1.261e-05	7.98e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	4.411e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2154.98	39	chr3	93927256	.	C	T	2154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.651;DP=945;ExcessHet=0.0000;FS=2.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=-8.520e-01;SOR=0.543	GT:AD:DP:GQ:PL	0/1:105,90:195:99:2169,0,2533	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	0/1:82,19:101:4:.:.:4,0,2123	7	0	14	0
chr3	128879647	128879647	-	TAAG	UTR5	ACAD9	NM_014049:c.-45_-44insTAAG	.	.	Mitochondrial complex I deficiency due to ACAD9 deficiency, Autosomal recessive	.	17	1461	38	6	0	50	0.0168237	.	.	16057	not_specified|not_provided|Acyl-CoA_dehydrogenase_9_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012624,MedGen:C4747517,OMIM:611126,Orphanet:99901	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0449	0.077476	0.0416	0.1261	0.0109	0.0674	0.0440	0.0134	0.0373	0.1107	0.0247426	644	26028	rs1299939585	0.0210	0.0210	0.0191	0.0229	0.1318	0.0208	0.0207	0.1286	0.1273	0.1318	0.0127	0.0198	0.0508	0.0409	0.0117	0.0093	0.0293	0.1018	0.0497	0.0498	0.0479	0.0515	0.1237	0.0487	0.0483	0.1209	0.1198	0.1237	0	0.0239	0.0150	0.0588	0.0384	0.0102	0.0101	0.0308	0.1114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3488.64	37	chr3	128879647	.	C	CTAAG	3488.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.075e+00;DP=873;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=18.66;ReadPosRankSum=0.028;SOR=0.728	GT:AD:DP:GQ:PL	0/1:37,34:71:99:1307,0,1447	18	0	3	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	3/4:0,13,60,120,96:306:99:11365,8753,8145,4760,4408,3815,2380,1842,702,1430,3421,2478,821,0,2566	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	3/4:0,13,60,120,96:306:99:11365,8753,8145,4760,4408,3815,2380,1842,702,1430,3421,2478,821,0,2566	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	3/4:0,13,60,120,96:306:99:11365,8753,8145,4760,4408,3815,2380,1842,702,1430,3421,2478,821,0,2566	5	0	0	0
chr3	149172318	149172318	-	CTCACACA	UTR3	HPS3	NM_001308258:c.*96_*97insCTCACACA;NM_032383:c.*96_*97insCTCACACA	.	.	Hermansky-Pudlak syndrome 3	.	434	884	31	28	145	232	0.0469003	.	.	289085	not_provided|Hermansky-Pudlak_syndrome	MedGen:CN517202|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041494	108	26028	rs374839757	0.0470	0.0259	0.0407	0.0524	0.1219	0.0465	0.0463	0.1194	0.1183	0.0082	0.0199	0.0430	0.0037	0.0244	0.0376	0.0428	0.0427	0.1219	0.0473	0.0460	0.0471	0.0474	0.1446	0.0463	0.0459	0.1354	0.1317	0.0112	0.0195	0.0419	0.0634	0.0071	0.0295	0.0625	0.0679	0.0509	0.1446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2465.44	14	chr3	149172318	.	TCA	TCTCACACACA,T,TCACACACACACACACA,TCACACA,TCACACACA	2465.44	.	AC=4,4,4,3,2;AF=0.095,0.095,0.095,0.071,0.048;AN=42;BaseQRankSum=0.00;DP=284;ExcessHet=0.1324;FS=9.143;InbreedingCoeff=0.2537;MLEAC=4,4,3,2,2;MLEAF=0.095,0.095,0.071,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=22.41;ReadPosRankSum=-5.240e-01;SOR=2.033	GT:AD:DP:GQ:PL	4/4:0,0,0,0,9,0:11:27:399,342,320,342,320,320,342,320,320,320,27,27,27,27,0,342,320,320,320,27,320	9	0	3	0
chr3	150927632	150927635	ACAC	-	UTR3	CLRN1	NM_001195794:c.*304_*301delGTGT;NM_001256819:c.*617_*614delGTGT;NM_174878:c.*304_*301delGTGT	.	.	Retinitis pigmentosa 61;Usher syndrome, type 3A, Autosomal recessive	.	1382	105	6	16	13	51	0.153226	.	.	293404	not_provided|Retinitis_pigmentosa-deafness_syndrome|Retinitis_Pigmentosa,_Dominant	MedGen:C3661900|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004|MedGen:CN239354	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1208	0.1613	0.1932	0.3923	.	0.1219	0.1667	0.1120	0.0015368	40	26028	rs143330998	0.1210	0.1126	0.1259	0.1171	0.2769	0.1199	0.1195	0.2692	0.2661	0.1447	0.1680	0.0889	0.2769	0.1361	0.1092	0.1103	0.1287	0.0912	0.1005	0.1011	0.0968	0.1043	0.2730	0.0991	0.0986	0.2611	0.2563	0.1160	0.0615	0.1289	0.0679	0.2730	0.1213	0.1042	0.0730	0.0968	0.0681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	720.63	2	chr3	150927631	.	TACAC	TAC,T	720.63	.	AC=6,3;AF=0.250,0.125;AN=24;BaseQRankSum=0.861;DP=108;ExcessHet=0.0000;FS=0.962;InbreedingCoeff=0.5124;MLEAC=8,4;MLEAF=0.333,0.167;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=0.033;SOR=1.142	GT:AD:DP:GQ:PL	2/2:0,0,2:2:6:90,90,90,6,6,0	7	3	0	9
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5095.76	52	chr3	160258644	.	G	GA	5095.76	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.170e-01;DP=980;ExcessHet=1.5138;FS=1.222;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=-1.520e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:19,43:64:99:1005,0,368	12	1	8	0
chr3	165773492	165773492	C	T	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon4:c.G1699A:p.A567T,	Apnea, postanesthetic (3)	YES	44	964	416	98	0	612	0.240945	.	.	28259	Deficiency_of_butyrylcholinesterase|Butyrylcholinesterase_activity|not_specified|not_provided	MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.012	B	0.019	N	0.933	P	1.895	L	-0.18	T	-1.017	T	0.001	T	0.246	2.970	15.90	4.14	1.206	4.872	11.972	0.136	.	0.1977	0.158546	0.1891	0.1966	0.1155	0.1183	0.1714	0.2109	0.1991	0.1939	0.179157	27698	154602	rs1803274	0.1952	0.1965	0.1955	0.1949	0.2300	0.1946	0.1944	0.2197	0.2156	0.1919	0.1175	0.1779	0.1388	0.1691	0.2300	0.2027	0.1945	0.1868	0.1828	0.1828	0.1846	0.1809	0.1978	0.1810	0.1802	0.1950	0.1939	0.1886	0.2121	0.1383	0.1763	0.1173	0.1653	0.2007	0.1978	0.1835	0.1677	0.093	0.31532	T	0.15	0.37872	T	0.001	0.07471	B	0.012	0.16012	B	0.019382	0.27268	N	0.339910	0.933173	0.27002	P	2.455	0.71248	M	-0.18	0.77336	T	-0.52	0.38151	N	0.036	0.01068	-1.0170	0.24690	T	0.001	0.00222	T	9	0.0018072128	0.00024	T	.	.	.	0.136	0.36778	.	.	.	.	0.26196509411827273	0.26109	0.0146452542494	0.01391	0.319616317749	0.13362	T	0.358518	0.74836	T	-0.467858	0.00877	T	-0.301002	0.44619	T	0.0211996116972123	0.00822	T	0.774123	0.42528	T	0.22133149	0.44708	0.23066719	0.48175	0.23999383	0.46897	0.20989761	0.45352	-5.147	0.38398	T	.	.	0.085	0.16538	B	.;.	.;.	3.292023	0.45157	22.1	0.99632838182915928	0.76142	0.91322	0.53300	D	AEFI	0.801494	0.72719	D	-0.00633166657305249	0.41567	2.488702	0.123040286207381	0.45729	2.831012	0.00173072517578264	0.08818	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.03	4.14	0.47821	4.438000	0.59704	2.697000	0.34132	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9138:0.0:0.0862	11.972	0.52358	900	0.24599	Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain;Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain	BCHE	Heart_Atrial_Appendage	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.3095	13452.11	33	chr3	165773492	.	C	T	13452.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-4.230e-01;DP=1260;ExcessHet=1.3217;FS=1.851;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.656;SOR=0.824	GT:AD:DP:GQ:PL	0/1:42,55:97:99:1475,0,1019	10	2	9	0
chr4	634704	634704	G	A	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_000283:exon2:c.G496A:p.E166K	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	1	1465	54	2	0	58	0.019411	.	.	295348	Congenital_stationary_night_blindness_autosomal_dominant_2|Retinitis_pigmentosa|not_provided|Retinal_dystrophy	MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.021	B	0.014	B	0.000	D	1.000	D	0.21	N	-0.23	T	-0.972	T	0.093	T	0.278	-1.222	0.062	4.28	1.944	3.421	14.200	0.145	.	0.0087	0.00499201	0.0096	0.0020	0.0068	0	0.0042	0.0139	0.0066	0.0065	0.00978	1512	154602	rs115775983	0.0120	0.0121	0.0122	0.0119	0.0137	0.0119	0.0118	0.0135	0.0135	0.0021	0.0074	0.0140	0.0002	0.0050	0.0116	0.0137	0.0114	0.0066	0.0091	0.0091	0.0099	0.0082	0.0131	0.0087	0.0085	0.0124	0.0121	0.0024	0.0802	0.0103	0.0167	0.0004	0.0038	0.0034	0.0131	0.0081	0.0087	1.0	0.00964	T	1.0	0.01155	T	0.017	0.18474	B	0.008	0.16862	B	0.000002	0.62929	D	0.055788	0.999934	0.51612	D	0.52	0.13579	N	-0.23	0.66652	T	0.64	0.02368	N	0.504	0.54234	-0.9719	0.36798	T	0.093	0.35336	T	10	0.006758034	0.00153	T	.	.	.	0.145	0.38592	.	.	0.764465206445	0.76231	0.6591859148317153	0.65855	0.570417275968	0.53198	0.506645441055	0.39754	T	0.181803	0.53359	T	-0.420052	0.01709	T	-0.364476	0.37534	T	0.00907532143853738	0.00114	T	0.927907	0.73422	D	0.27059433	0.50131	0.18972649	0.42335	0.29364362	0.52330	0.16230349	0.37708	-3.517	0.16685	T	0.06406952643032428	0.02014	0.091	0.15385	B	.;.	.;.	2.431908	0.31284	18.70	0.22687550527391873	0.00924	0.86985	0.46393	D	AEFDBI	0.185573	0.31289	N	-0.575143034493976	0.19701	1.033188	-0.411563835111279	0.24658	1.351505	0.0858597422783776	0.15993	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.28	4.28	0.50183	3.717000	0.54640	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:0.0:1.0:0.0	14.200	0.65237	804	0.43891	.;GAF domain|GAF domain	RP11-1263C18.2	Skin_Not_Sun_Exposed_Suprapubic	PIGG|PIGG|PIGG|PIGG|PIGG|PIGG|PIGG	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Heart_Atrial_Appendage|Heart_Left_Ventricle|Skin_Sun_Exposed_Lower_leg|Testis	rs115775983	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	0.07143	4465.68	36	chr4	634704	.	G	A	4465.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.908;DP=980;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=0.367;SOR=0.690	GT:AD:DP:GQ:PL	0/1:46,63:109:99:1608,0,1002	18	0	3	0
chr4	670068	670068	C	T	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_001350155:exon18:c.C1306T:p.R436W	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	0	1491	30	1	0	32	0.0106171	.	.	299205	Congenital_stationary_night_blindness_autosomal_dominant_2|Retinitis_pigmentosa|not_provided	MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0118	0.00379393	0.0115	0.0035	0.0023	0	0.0227	0.0164	0.0133	0.0051	0.0115005	1778	154602	rs61733857	0.0143	0.0143	0.0144	0.0141	0.0159	0.0141	0.0140	0.0157	0.0156	0.0022	0.0040	0.0123	2.519e-05	0.0250	0.0078	0.0159	0.0125	0.0053	0.0108	0.0109	0.0106	0.0110	0.0162	0.0104	0.0102	0.0154	0.0150	0.0033	0.0033	0.0052	0.0167	0.0002	0.0223	0.0034	0.0162	0.0071	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.02381	773.98	34	chr4	670068	.	C	T	773.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.450e-01;DP=767;ExcessHet=0.0000;FS=0.918;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=0.977;SOR=0.830	GT:AD:DP:GQ:PL	0/1:35,31:66:99:788,0,916	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	0/1:149,167:316:99:4553,0,4034	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	0/1:91,81:172:99:2241,0,2290	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	1/1:0,116:116:99:3809,348,0	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	0/1:58,35:93:99:780,0,1427	18	0	3	0
chr4	55102484	55102484	C	T	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon14:c.G2012A:p.G671E,	Hemangioma, capillary infantile, somatic	.	2	1513	7	0	0	7	0.00230795	.	.	920724	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.4	B	0.243	B	0.005	N	0.994	D	-0.705	N	-0.18	T	-0.915	T	0.096	T	0.486	0.878	8.563	5.17	1.522	2.058	16.946	0.219	0.0235904900503	0.0002	0.000399361	0.0002	9.612e-05	0	0	0	0.0003	0.0011	0.0005	0.0002264	35	154602	rs149740758	0.0001	0.0001	0.0001	0.0002	0.0026	0.0001	0.0001	0.0016	0.0013	8.969e-05	0.0005	3.828e-05	0	0	0.0026	9.175e-05	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	2.406e-05	0	0.0004	0.0003	0	0	0.0068	0.0002	0.0005	0.0004	0.318	0.13654	T	0.257	0.23231	T	0.4	0.34852	B	0.243	0.38752	B	0.004804	0.33369	N	0.332281	0.994303	0.42233	D	-0.265	0.03777	N	-0.18	0.65747	T	0.34	0.03824	N	0.285	0.32259	-0.9149	0.46233	T	0.096	0.36133	T	10	0.0712392	0.10474	T	0.02359	0.46557	T	0.219	0.51417	.	.	0.134007934775	0.12933	0.7559511456578014	0.75543	0.210862529731	0.23587	0.547307491302	0.45478	T	0.07849	0.35903	T	-0.271478	0.11593	T	-0.291477	0.45618	T	0.034966227377001	0.02802	T	0.765923	0.39354	T	0.19775377	0.41652	0.114104606	0.27542	0.19775377	0.41652	0.114104606	0.27541	-0.419	0.00536	T	.	.	0.096	0.15341	B	.;.	.;.	2.371955	0.30435	18.44	0.87929882265626835	0.17588	0.93549	0.58520	D	AEFBI	0.370170	0.45664	N	-0.532072375761519	0.21050	1.114243	-0.374925991644683	0.25746	1.417808	0.999977652612898	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	6.02	5.17	0.70848	1.603000	0.36404	4.225000	0.42617	0.599000	0.40250	0.637000	0.28059	0.999000	0.35428	0.182000	0.21359	0.0:0.8719:0.1281:0.0	16.946	0.86101	709	0.56835	Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1188.98	33	chr4	55102484	.	C	T	1188.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.040e-01;DP=801;ExcessHet=0.0000;FS=0.873;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-8.450e-01;SOR=0.914	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1203,0,1022	20	0	1	0
chr4	76179684	76179684	C	T	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_005506:exon4:c.G445A:p.V149M,	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	2	1517	3	0	0	3	0.000987817	.	.	201794	SCARB2-related_disorder|Action_myoclonus-renal_failure_syndrome|Progressive_myoclonic_epilepsy|not_provided|Inborn_genetic_diseases|not_specified	.|MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.047	B	0.029	B	0.000	N	1.000	N	0	N	-0.59	T	-0.940	T	0.113	T	0.077	2.451	14.15	-6.54	-1.657	-0.906	8.422	0.082	0.0114500858662	0.0025	0.000998403	0.0021	0.0008	0.0016	0	0.0002	0.0031	0.0066	0.0004	0.001934	299	154602	rs147159813	0.0029	0.0029	0.0029	0.0028	0.0034	0.0028	0.0028	0.0033	0.0033	0.0005	0.0027	3.827e-05	0	0.0002	0.0026	0.0034	0.0032	0.0004	0.0022	0.0022	0.0022	0.0021	0.0052	0.0020	0.0019	0.0042	0.0039	0.0005	0	0.0052	0	0	0.0003	0.0102	0.0032	0.0033	0.0002	0.141	0.25560	T	0.227	0.25362	T	0.047	0.21998	B	0.029	0.21540	B	0.000037	0.00348	N	4.113450	1	0.08975	N	-0.345	0.03330	N	-0.59	0.71543	T	0.43	0.03297	N	0.192	0.21056	-0.9402	0.42584	T	0.113	0.40307	T	10	0.0034089088	0.00060	T	0.01145	0.29087	T	0.082	0.23913	.	.	0.248417906384	0.24464	0.2700136440655256	0.26914	0.238332228865	0.26378	0.287140756845	0.08508	T	0.081393	0.36587	T	-0.566851	0.00231	T	-0.586066	0.14009	T	0.00189818317467253	0.00019	T	0.672833	0.28129	T	0.118628524	0.27946	0.12776202	0.30749	0.118628524	0.27946	0.12776202	0.30748	-4.589	0.32033	T	0.09611518049538707	0.06615	0.128	0.29724	B	.;.;.;.;.	.;.;.;.;.	0.076011	0.04833	1.432	0.95104874609117007	0.26185	0.18012	0.20082	N	AEFBHCI	0.060632	0.11535	N	-1.43665833772221	0.02323	0.1024735	-1.49079410842702	0.02419	0.1112351	0.999999978334428	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.95	-6.54	0.01692	-0.696000	0.05205	-0.104000	0.11907	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.0:0.2281:0.2193:0.5526	8.422	0.31871	892	0.26670	.;.;.;.;.	.	.	.	.	.	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	0.02381	1257.98	33	chr4	76179684	.	C	T	1257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.365e+00;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.196e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1272,0,1466	20	0	1	0
chr4	109749528	109749528	G	A	exonic	CFI	.	stopgain	CFI:NM_001375283:exon7:c.C958T:p.R320X	Complement factor I deficiency, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1309746	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	4.294	22.5	1.72	-0.005	1.490	15.293	.	.	.	.	2.472e-05	0	0	0	0	4.497e-05	0	0	1.94e-05	3	154602	rs762761680	1.711e-05	1.71e-05	4.086e-06	3.026e-05	9.277e-05	1.174e-05	9.93e-06	4.579e-05	3.273e-05	0	0	0	5.038e-05	0	0	1.35e-05	0	9.277e-05	1.315e-05	1.313e-05	1.286e-05	1.345e-05	0.0004	2.19e-06	8.2e-07	7.307e-05	3.035e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.924	0.92901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460917	0.92965	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive;.;.	.;.;High;.;.	7.131361	0.96178	35	0.99366729949989818	0.61240	0.86924	0.46316	D	AEFBI	0.307090	0.41406	N	0.185182148233765	0.50487	3.238278	-0.0951576283744062	0.35591	2.060857	0.00402280271521477	0.10385	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.59	1.72	0.23498	1.535000	0.35667	3.447000	0.38420	0.595000	0.32841	0.998000	0.41325	1.000000	0.68203	0.004000	0.06068	0.0:0.0:0.3746:0.6254	15.293	0.73588	839	0.37672	.;Serine proteases, trypsin domain;Serine proteases, trypsin domain;.;Serine proteases, trypsin domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1399.98	52	chr4	109749528	.	G	A	1399.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=820;ExcessHet=0.0000;FS=3.431;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.700e-02;SOR=0.750	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1414,0,1366	20	0	1	0
chr4	154606073	154606073	T	C	intronic	FGG	.	.	.	Afibrinogenemia, congenital, Autosomal recessive;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia;Hypofibrinogenemia, congenital, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	31410	not_specified|not_provided|FIBRINOGEN_PARIS_1|Congenital_afibrinogenemia|FGG-related_disorder	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0073383	191	26028	rs2066862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0053	0.0059	0.0047	0.0089	0.0050	0.0049	0.0083	0.0081	0.0016	0.0055	0.0035	0.0092	0.0002	0.0021	0.0068	0.0089	0.0080	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	490.35	16	chr4	154606073	.	T	C	490.35	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.02;DP=281;ExcessHet=0.1072;FS=2.814;InbreedingCoeff=-0.0575;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.469;SOR=0.283	GT:AD:DP:GQ:PL	0/1:8,9:17:99:256,0,181	19	0	2	0
chr4	163128904	163128904	T	G	exonic	NAF1	.	nonsynonymous SNV	NAF1:NM_138386:exon8:c.A1478C:p.Y493S,	.	.	464	1055	3	0	0	3	0.00141978	.	.	1328047	not_specified|NAF1-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.991	D	0.766	P	0.020	N	1.000	D	0.975	L	1.0	T	-0.816	T	0.090	T	0.799	3.294	17.07	4.04	2.054	1.936	9.691	0.153	.	0.0007	0.00179712	0.0015	0.0001	0.0016	0	0	0.0020	0	0.0010	0.0011837	183	154602	rs143001503	0.0018	0.0018	0.0018	0.0018	0.0025	0.0018	0.0017	0.0020	0.0020	0.0004	0.0020	0.0008	0	0.0004	0.0025	0.0021	0.0014	0.0013	0.0016	0.0015	0.0015	0.0016	0.0051	0.0014	0.0013	0.0040	0.0036	0.0003	0	0.0051	0.0012	0	0.0002	0	0.0020	0.0023	0.0012	0.0	0.91255	D	0.124	0.35455	T	0.991	0.64070	D	0.766	0.56676	P	0.019652	0.27210	N	0.310366	0.644787	0.81001	D	2.3	0.65703	M	1.0	0.41392	T	-0.83	0.22727	N	0.611	0.62781	-0.8159	0.54189	T	0.090	0.34683	T	10	0.010709286	0.00237	T	.	.	.	0.153	0.40148	.	.	0.81742776106	0.81570	0.47445367070090955	0.47364	0.536272819218	0.50962	0.65680706501	0.60953	T	0.036118	0.23981	T	-0.209505	0.19447	T	-0.0795738	0.64935	T	0.0463365780933892	0.04844	T	0.485551	0.14815	T	0.22657369	0.45341	0.24215792	0.49630	0.22657369	0.45341	0.24215792	0.49628	-2.843	0.08586	T	.	.	0.164	0.36275	B	.	.	4.388635	0.67704	25.1	0.98948520044590937	0.49093	0.76833	0.37715	D	AEFBI	0.139077	0.26056	N	0.337784106014441	0.58097	3.980187	0.333176705790393	0.57499	3.915922	0.00863548147809964	0.11712	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.04	4.04	0.46262	2.019000	0.40620	3.662000	0.39410	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	9.691	0.39293	971	0.05719	.	.	.	.	.	.	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	1317.98	34	chr4	163128904	.	T	G	1317.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=809;ExcessHet=0.0000;FS=0.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=1.50;SOR=0.565	GT:AD:DP:GQ:PL	0/1:43,55:98:99:1332,0,926	20	0	1	0
chr4	177431488	177431488	C	G	UTR3	AGA	NM_000027:c.*220G>C;NM_001171988:c.*220G>C	.	.	Aspartylglucosaminuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	292920	not_provided|Aspartylglucosaminuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012068,MONDO:MONDO:0008830,MedGen:C0268225,OMIM:208400,Orphanet:93	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00938498	0.0221	0.0040	0.0595	0.0067	.	0.0368	0.0349	0.0153	0.0024256	375	154602	rs12502301	0.0086	0.0067	0.0090	0.0083	0.0599	0.0084	0.0083	0.0573	0.0563	0.0011	0.0599	0.0340	0.0154	0.0121	0.0015	0.0017	0.0083	0.0090	0.0073	0.0073	0.0061	0.0085	0.0384	0.0069	0.0068	0.0358	0.0348	0.0015	0	0.0384	0.0392	0.0095	0.0107	0	0.0016	0.0076	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	39.38	4	chr4	177431488	.	C	G	39.38	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.645e+00;DP=86;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1234;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=7.88;ReadPosRankSum=-5.240e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:3,2:5:51:51,0,107	19	0	1	1
chr5	32786307	32786307	C	T	exonic	NPR3	.	nonsynonymous SNV	NPR3:NM_001364460:exon7:c.C817T:p.R273W	.	.	426	1093	3	0	0	3	0.00137049	.	.	1570732	Inborn_genetic_diseases|NPR3-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	0.805	L	0.75	T	-0.636	T	0.205	T	0.922	3.773	19.16	4.2	1.583	1.803	17.039	0.355	0.0615222187363	0.0006	0.000399361	0.0011	0	0.0010	0.0002	0.0029	0.0013	0.0032	0.0009	0.0008991	139	154602	rs142228984	0.0012	0.0013	0.0012	0.0013	0.0014	0.0012	0.0012	0.0013	0.0012	0.0001	0.0004	0	2.543e-05	0.0021	0.0003	0.0013	0.0013	0.0014	0.0009	0.0009	0.0010	0.0008	0.0023	0.0008	0.0007	0.0013	0.0011	0.0001	0	0.0002	0	0	0.0018	0	0.0014	0.0005	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999961	0.52935	D	2.045	0.56016	M	0.75	0.50192	T	-1.91	0.44471	N	0.699	0.83371	-0.6361	0.63312	T	0.205	0.56279	T	10	0.051540524	0.05051	T	0.061522	0.68359	D	0.355	0.67600	.	.	0.904445790692	0.90349	0.7448816576513672	0.74434	.	.	0.79996573925	0.81957	T	0.098695	0.65041	T	-0.0835324	0.39138	T	0.101068	0.76978	D	0.0681145236514431	0.08384	T	0.977602	0.92086	D	0.40438634	0.61035	0.32918283	0.58800	0.40438634	0.61035	0.32918283	0.58799	-6.689	0.68382	T	.	.	0.343	0.64159	A	.;.;.;.	.;.;.;.	4.721183	0.75951	26.4	0.99922296390473664	0.98852	0.72224	0.35359	D	AEFGBHCIJ	0.743746	0.68695	D	0.450440138550749	0.64226	4.672654	0.469376118130757	0.65969	4.891647	0.999999016305163	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	4.2	0.48814	2.331000	0.43552	1.391000	0.26116	0.599000	0.40250	1.000000	0.71638	0.974000	0.29927	0.997000	0.79791	0.2425:0.7575:0.0:0.0	17.039	0.86359	610	0.67008	.;.;.;.	.	.	.	.	.	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	2346.11	37	chr5	32786307	.	C	T	2346.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.40;DP=949;ExcessHet=0.1072;FS=0.547;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.321;SOR=0.647	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1075,0,857	19	0	2	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	0/2:21,0,13,0,0:34:99:.:.:303,368,1233,0,865,826,368,1233,865,1233,368,1233,865,1233,1233	4	0	0	0
chr5	42699919	42699919	C	T	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon4:c.C469T:p.R157C	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	.	0	1509	13	0	0	13	0.00428901	.	.	23676	not_specified|Laron-type_isolated_somatotropin_defect|Short_stature_due_to_growth_hormone_secretagogue_receptor_deficiency|Short_stature_due_to_partial_GHR_deficiency|Hypercholesterolemia,_familial,_1|not_provided|GHR-related_disorder	MedGen:CN169374|MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633|MONDO:MONDO:0014403,MedGen:C4707848,OMIM:615925,Orphanet:314811|MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.717	P	0.171	B	0.000	D	1.000	A	1.385	L	-3.4	D	0.170	D	0.547	D	0.726	2.910	15.70	3.19	0.403	1.257	9.312	0.609	0.115468224968	0.0056	0.00139776	0.0041	0.0012	0.0021	0	0.0023	0.0059	0.0077	0.0027	0.0041526	642	154602	rs121909362	0.0046	0.0047	0.0047	0.0046	0.0053	0.0045	0.0045	0.0052	0.0051	0.0011	0.0030	0.0018	2.527e-05	0.0034	0.0024	0.0053	0.0040	0.0030	0.0040	0.0040	0.0039	0.0041	0.0076	0.0038	0.0037	0.0065	0.0060	0.0010	0.0011	0.0076	0.0009	0	0.0023	0.0068	0.0060	0.0033	0.0027	0.0	0.91255	D	0.0	0.92824	D	0.717	0.42239	P	0.171	0.35348	B	0.000003	0.62929	D	0.105237	0.0568931	0.81001	A	1.04	0.26193	L	-3.4	0.94260	D	-0.79	0.21860	N	0.649	0.72567	0.170	0.85394	D	0.547	0.83388	D	9	0.085534275	0.14449	T	0.115468	0.79465	D	0.609	0.84666	.	.	0.980862896875	0.98065	0.6824506315988559	0.68184	0.0607989214679	0.06768	0.266834557056	0.05732	T	0.459716	0.79719	T	-0.0783641	0.39981	T	0.117132	0.78045	D	0.0470354036716266	0.04971	T	0.793521	0.43550	T	0.7133288	0.78791	0.26592335	0.52431	0.6499371	0.75362	0.36667204	0.61992	-9.204	0.69000	D	0.2636075541560013	0.35561	0.226	0.49865	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.471068	0.31848	18.87	0.99529260467720693	0.69777	0.82051	0.41339	D	AEFI	0.569677	0.57436	D	-0.0343289700656994	0.40305	2.391333	0.0119569775514906	0.40270	2.400541	0.00146348285875886	0.08559	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.91	3.19	0.35720	1.304000	0.33087	-0.175000	0.11188	-0.194000	0.09177	0.592000	0.27682	0.000000	0.08366	0.982000	0.59238	0.0:0.7495:0.1203:0.1302	9.312	0.37072	495	0.76383	Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2068.98	33	chr5	42699919	.	C	T	2068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.110e-01;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.69;ReadPosRankSum=1.14;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,75:124:99:0|1:42699919_C_T:2083,0,1190:42699919	20	0	1	0
chr5	78039191	78039191	G	T	exonic	AP3B1	.	nonsynonymous SNV	AP3B1:NM_001271769:exon23:c.C2514A:p.F838L	Hermansky-Pudlak syndrome 2, Autosomal recessive	.	0	1481	40	1	0	42	0.0139814	.	.	207283	Hermansky-Pudlak_syndrome_2|not_provided|Autoinflammatory_syndrome|not_specified|Hermansky-Pudlak_syndrome	MONDO:MONDO:0011997,MedGen:C1842362,OMIM:608233,Orphanet:183678,Orphanet:79430|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.47	T	0.001	B	0.004	B	0.200	N	0.893	D	0.55	N	0.62	T	-1.028	T	0.067	T	0.188	2.038	12.77	5.76	2.721	2.165	16.946	0.059	.	0.0082	0.00658946	0.0078	0.0009	0.0029	0	0.0026	0.0100	0.0088	0.0131	0.0080529	1245	154602	rs139344924	0.0105	0.0105	0.0106	0.0105	0.0128	0.0104	0.0103	0.0121	0.0119	0.0015	0.0037	0.0013	2.52e-05	0.0031	0.0092	0.0117	0.0125	0.0128	0.0069	0.0069	0.0074	0.0065	0.0137	0.0066	0.0064	0.0111	0.0108	0.0019	0	0.0041	0.0012	0.0002	0.0026	0.0034	0.0117	0.0066	0.0137	0.648	0.04880	T	0.647	0.06812	T	0.001	0.07471	B	0.004	0.10090	B	0.199753	0.16631	N	0.654660	0.892783	0.35990	D	1.245	0.31408	L	0.62	0.53302	T	-0.04	0.07590	N	0.347	0.39558	-1.0281	0.21070	T	0.067	0.27572	T	10	0.0114659965	0.00250	T	.	.	.	0.059	0.16972	0.369	0.37850	0.280695755116	0.27685	0.5849618568510332	0.58426	0.0679227945487	0.07604	0.345379173756	0.17239	T	0.233032	0.59974	T	-0.499254	0.00577	T	-0.478244	0.24634	T	0.0131558745875687	0.00232	T	0.722228	0.33571	T	0.09974394	0.23543	0.12349639	0.29777	0.10508018	0.24844	0.12349639	0.29776	-2.294	0.04522	T	.	.	0.301	0.63481	B	.;.	.;.	2.579111	0.33439	19.34	0.98306104344900491	0.40097	0.93732	0.59033	D	AEFBI	0.438255	0.49772	N	-0.167995709581836	0.34470	1.967993	0.0628323753550554	0.42697	2.587046	0.999864816225167	0.44398	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	2.631000	0.46169	8.685000	0.78057	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.1274:0.8726:0.0	16.946	0.86101	940	0.13648	AP-3 complex subunit beta, C-terminal domain|AP-3 complex subunit beta, C-terminal domain;.	.	.	.	.	rs139344924	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	1926.98	34	chr5	78039191	.	G	T	1926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.419e+00;DP=845;ExcessHet=0.0000;FS=2.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-1.090e-01;SOR=0.949	GT:AD:DP:GQ:PL	0/1:77,83:160:99:1941,0,1845	20	0	1	0
chr5	127455393	127455393	C	T	intronic	MEGF10	.	.	.	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, Autosomal recessive;Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, Autosomal recessive	.	18	1479	21	4	0	29	0.00970874	0	0.018	295161	not_specified|MEGF10-related_myopathy|MEGF10-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0013731,MedGen:C3280679,OMIM:614399,Orphanet:439212|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.000798722	0.0016	9.925e-05	0.0026	0	0	0.0021	0.0066	0.0009	0.0015847	245	154602	rs185480820	0.0012	0.0012	0.0011	0.0013	0.0137	0.0012	0.0011	0.0113	0.0104	0.0013	0.0021	0.0064	2.52e-05	5.618e-05	0.0137	0.0010	0.0028	0.0009	0.0010	0.0010	0.0009	0.0012	0.0021	0.0009	0.0009	0.0015	0.0013	0.0003	0	0.0021	0.0043	0	0	0.0136	0.0012	0.0033	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2323.11	34	chr5	127455393	.	C	T	2323.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.160e-01;DP=805;ExcessHet=0.1072;FS=0.642;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.18;ReadPosRankSum=-7.490e-01;SOR=0.612	GT:AD:DP:GQ:PL	0/1:36,53:89:99:1386,0,917	19	0	2	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L,	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	.	451	281	404	386	0	1176	0.67664	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0/1:55,54:109:99:1303,0,1416	5	5	11	0
chr5	148996600	148996600	T	G	UTR3	SH3TC2	NM_024577:c.*8111A>C	.	.	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	.	1358	136	6	22	0	50	0.15528	.	.	302127	Susceptibility_to_mononeuropathy_of_the_median_nerve,_mild|Charcot-Marie-Tooth_disease_type_4C|not_provided	MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596,Orphanet:99949|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160711	4183	26028	rs17109205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2384	0.2386	0.2402	0.2365	0.3530	0.2363	0.2355	0.3482	0.3462	0.3530	0.2313	0.1628	0.2487	0.0267	0.1902	0.2211	0.2089	0.2412	0.2364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	93.58	2	chr5	148996600	.	T	G	93.58	.	AC=4;AF=0.286;AN=14;DP=48;ExcessHet=0.0000;FS=0.000;MLEAC=6;MLEAF=0.429;MQ=60.00;QD=23.40;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	5	2	0	14
chr6	7585563	7585563	C	G	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.C6504G:p.T2168T	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	44689	not_specified|Cardiovascular_phenotype|Cardiomyopathy|Lethal_acantholytic_epidermolysis_bullosa|Woolly_hair-skin_fragility_syndrome|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|not_provided	MedGen:CN169374|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000798722	0.0006	0	0.0006	0	0	0.0008	0.0011	0.0003	0.0005433	84	154602	rs145362059	0.0004	0.0004	0.0004	0.0004	0.0042	0.0004	0.0004	0.0029	0.0024	0.0002	0.0010	0.0049	0	0	0.0042	0.0003	0.0012	0.0004	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0003	0.0005	0.0004	4.814e-05	0	0.0008	0.0043	0	0	0.0034	0.0005	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	0.04762	17247.11	33	chr6	7585563	.	C	G	17247.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.369e+00;DP=7970;ExcessHet=0.1072;FS=0.522;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-9.990e-01;SOR=0.632	GT:AD:DP:GQ:PL	0/1:407,368:775:99:9062,0,11012	19	0	2	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	0/1:30,26,0,0,0,0:56:99:1323,0,1034,1211,1186,2563,1211,1186,2563,2563,1211,1186,2563,2563,2563,1211,1186,2563,2563,2563,2563	9	0	3	0
chr6	32040110	32040110	G	T	exonic	CYP21A2	.	nonsynonymous SNV	CYP21A2:NM_001128590:exon6:c.G754T:p.V252L	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	YES	0	1479	43	0	0	43	0.0143286	.	.	27190	Congenital_adrenal_hyperplasia|Inborn_genetic_diseases|not_provided|CYP21A2-related_disorder|Adenoma,_cortisol-producing|Carcinoma,_adrenocortical,_androgen-secreting|Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency	Human_Phenotype_Ontology:HP:0008258,MONDO:MONDO:0018479,MedGen:C0001627,Orphanet:418|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.|MedGen:C3151153|MedGen:C1859998|MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	1	T	0.929	P	0.796	P	0.001	D	0.956	A	0.545	N	-0.03	T	-0.970	T	0.100	T	0.727	2.398	13.98	4.02	2.463	2.552	10.072	0.311	.	.	.	0.0104	0.0050	0.0251	0.0021	0.0015	0.0129	0.0172	0.0015	0.0002652	41	154602	rs6471	0.0044	0.0084	0.0045	0.0043	0.0149	0.0043	0.0043	0.0140	0.0136	0.0030	0.0149	0.0452	0.0006	0.0014	0.0096	0.0033	0.0093	0.0009	0.0109	0.0140	0.0120	0.0097	0.0276	0.0104	0.0102	0.0255	0.0246	0.0049	0	0.0276	0.0723	0.0021	0.0011	0.0174	0.0104	0.0242	0.0012	0.612	0.06030	T	0.411	0.14679	T	0.929	0.51690	P	0.679	0.53442	P	0.000507	0.43753	D	0.000000	0.955922	0.37949	A	.	.	.	-0.03	0.63077	T	-0.9	0.24244	N	0.882	0.88027	-0.9704	0.37115	T	0.100	0.37239	T	9	0.0096589625	0.00217	T	.	.	.	0.311	0.63269	0.857	0.95604	.	.	0.5972667856722742	0.59657	1.16223817457	0.79525	0.504117131233	0.39401	T	.	.	.	0.0639463	0.60105	T	-0.145922	0.59604	T	0.981746435165405	0.74087	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.62058	A	.;.;.;.	.;.;.;.	3.749744	0.53743	23.4	0.99112721896904177	0.52776	0.87789	0.47449	D	AEFGBHI	0.786009	0.71622	D	0.0540422138522301	0.44330	2.708939	0.100301907356287	0.44563	2.735777	0.293754153552603	0.19115	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.613276	0.41899	0	.	.	4.96	4.02	0.45968	2.599000	0.45895	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.193000	0.21690	0.0:0.0:0.7997:0.2003	10.072	0.41514	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	1487.68	52	chr6	32040110	.	G	T	1487.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.34;DP=1121;ExcessHet=0.3300;FS=27.143;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=50.75;MQRankSum=-3.602e+00;QD=3.94;ReadPosRankSum=-6.520e-01;SOR=1.798	GT:AD:DP:GQ:PL	0/1:124,23:147:99:425,0,3139	18	0	3	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|1:30,17:47:99:0|1:32041874_C_T:597,0,1176:32041874	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|1:28,15:43:99:0|1:32041874_C_T:546,0,1131:32041874	12	1	7	1
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	0/1:3,3:6:99:117,0,117	6	8	7	0
chr6	56640283	56640283	G	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon4:c.C739G:p.P247A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	2	1475	43	2	0	47	0.0156823	.	.	308408	Inborn_genetic_diseases|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided|DST-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.79	T	0.172	B	0.075	B	0.074	N	0.957	N	0.69	N	1.06	T	-1.056	T	0.133	T	0.136	0.616	7.316	1.56	0.046	0.428	7.512	0.033	.	0.0018	0.00299521	0.0033	0.0004	0.0012	0	0.0002	0.0030	0.0022	0.0107	0.0031177	482	154602	rs151271595	0.0028	0.0028	0.0025	0.0030	0.0102	0.0027	0.0027	0.0096	0.0094	0.0006	0.0014	0.0029	2.519e-05	0.0004	0.0095	0.0024	0.0033	0.0102	0.0018	0.0018	0.0017	0.0019	0.0097	0.0016	0.0016	0.0075	0.0067	0.0006	0	0.0023	0.0037	0.0002	0	0.0034	0.0022	0.0038	0.0097	0.052	0.52492	T	0.429	0.17217	T	0.023	0.25584	B	0.029	0.28327	B	0.073886	0.21317	N	0.395716	.	.	.	1.24	0.30952	L	1.06	0.82715	T	-1.84	0.59545	N	0.124	0.18512	-1.0564	0.12672	T	0.133	0.44661	T	9	0.0032327473	0.00055	T	.	.	.	0.033	0.08068	.	.	0.366092821824	0.36220	0.3893332817011348	0.38848	0.139746512027	0.15750	0.298681229353	0.10204	T	0.010347	0.16227	T	-0.41251	0.01913	T	-0.357357	0.38358	T	0.00171214513294426	0.00017	T	0.842416	0.51891	T	.	.	.	.	.	.	.	.	-4.492	0.30784	T	.	.	0.061	0.01143	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.025952	0.14055	10.63	0.74773530716296321	0.10821	0.50708	0.28725	D	AEFDGBHCI	0.156510	0.28188	N	-0.715540201429122	0.15585	0.7867031	-0.601513759295084	0.19453	1.043817	0.999999734906887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.95	1.56	0.22423	0.441000	0.21325	1.420000	0.26356	0.676000	0.76740	0.773000	0.29391	0.931000	0.28545	0.995000	0.73285	0.0:0.3053:0.1732:0.5215	7.512	0.26746	314	0.87270	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.07143	6500.68	36	chr6	56640283	.	G	C	6500.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.020e+00;DP=1137;ExcessHet=0.3300;FS=3.219;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.525;SOR=0.914	GT:AD:DP:GQ:PL	0/1:93,97:190:99:2576,0,2481	18	0	3	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|1:43,20,0:63:99:0|1:80007990_G_C:538,0,1637,666,1695,2362:80007990	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|1:43,21,0:64:99:0|1:80007990_G_C:549,0,1634,677,1695,2372:80007990	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|1:43,21,0,0:64:99:0|1:80007990_G_C:549,0,1634,677,1695,2372,677,1695,2372,2372:80007990	1	0	7	8
chr6	107901524	107901524	A	-	intronic	SEC63	.	.	.	Polycystic liver disease 2, Autosomal dominant	.	301	1175	27	3	16	49	0.0138481	.	.	298622	not_provided|Polycystic_liver_disease_1	MedGen:C3661900|MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0643	.	0.1032	0.1328	0.0968	0.0728	0.0193	0.0957	0.0773	0.1565	0.0002689	7	26028	rs370485907	0.0510	0.1097	0.0512	0.0509	0.0988	0.0506	0.0505	0.0952	0.0937	0.0988	0.0633	0.0519	0.0426	0.0491	0.0361	0.0492	0.0585	0.0520	0.0158	0.0163	0.0159	0.0158	0.0488	0.0153	0.0150	0.0469	0.0462	0.0488	0	0.0102	0.0010	0.0002	0.0026	0.0038	0.0025	0.0105	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	393.85	29	chr6	107901523	.	TA	T	393.85	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-9.500e-02;DP=533;ExcessHet=1.1607;FS=0.667;InbreedingCoeff=-0.1295;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=3.52;ReadPosRankSum=0.250;SOR=0.813	GT:AD:DP:GQ:PL	0/1:22,3:27:3:3,0,529	16	0	5	0
chr6	109481881	109481881	C	T	exonic	ZBTB24	.	nonsynonymous SNV	ZBTB24:NM_001164313:exon2:c.G146A:p.R49Q	Immunodeficiency-centromeric instability-facial anomalies syndrome-2, Autosomal recessive	.	1	1498	23	0	0	23	0.00761842	.	.	246995	not_specified|Kabuki_syndrome_1|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_2|not_provided	MedGen:CN169374|MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322|MONDO:MONDO:0013553,MedGen:C3279748,OMIM:614069,Orphanet:2268|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.999	D	0.977	D	0.000	D	0.771	D	1.035	L	-0.34	T	-0.586	T	0.255	T	0.33	4.304	22.5	4.67	1.313	5.597	15.440	0.273	.	0.0063	0.00439297	0.0066	0.0016	0.0072	0	0.0035	0.0096	0.0055	0.0024	0.0067722	1047	154602	rs147441359	0.0074	0.0074	0.0076	0.0073	0.0097	0.0073	0.0073	0.0082	0.0081	0.0017	0.0078	0.0147	2.519e-05	0.0027	0.0097	0.0083	0.0080	0.0020	0.0061	0.0061	0.0066	0.0055	0.0111	0.0058	0.0056	0.0098	0.0092	0.0017	0.0044	0.0111	0.0127	0.0002	0.0024	0.0136	0.0086	0.0066	0.0021	0.054	0.38633	T	0.009	0.66756	D	0.999	0.77913	D	0.977	0.73820	D	0.000011	0.62929	D	0.108661	0.770652	0.34147	D	1.285	0.32305	L	-0.34	0.68474	T	-0.4	0.13805	N	0.682	0.68863	-0.5862	0.65372	T	0.255	0.62552	T	9	0.014561236	0.00306	T	.	.	.	0.273	0.58883	.	.	0.83713450273	0.83558	0.47293180614030045	0.47212	0.724818736464	0.62416	0.547889888287	0.45560	T	0.148743	0.48744	T	-0.353739	0.04496	T	-0.271503	0.47668	T	0.0111795497330327	0.00164	T	0.808619	0.45852	T	0.15783018	0.35541	0.11235077	0.27107	0.17776781	0.38760	0.11235077	0.27106	-8.917	0.67161	D	.	.	0.251	0.48582	B	.	.	5.526506	0.91831	32	0.99953791682224247	0.99963	0.92268	0.55322	D	AEFBI	0.410141	0.48114	N	0.485232659864742	0.66228	4.923011	0.496600949549412	0.67764	5.127945	0.999999238262081	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.605231	0.38476	0	.	.	5.54	4.67	0.58089	5.646000	0.67590	6.029000	0.52897	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.8606:0.1394:0.0	15.440	0.74905	551	0.72115	BTB/POZ domain|BTB/POZ domain|BTB/POZ 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	1857.98	34	chr6	109481881	.	C	T	1857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=844;ExcessHet=0.0000;FS=6.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=-1.495e+00;SOR=1.195	GT:AD:DP:GQ:PL	0/1:71,69:140:99:1872,0,1645	20	0	1	0
chr6	121447059	121447059	C	T	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.C212T:p.P71L,	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.979	D	0.000	D	1.000	D	3.675	H	-6.06	D	1.005	D	0.990	D	0.981	5.163	32	5.5	2.585	7.776	19.394	0.987	0.80308488865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239606179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.996	0.68779	D	0.979	0.74454	D	0.000001	0.84330	D	0.056216	1	0.81001	D	3.78	0.95251	H	-6.06	0.99508	D	-9.07	0.98162	D	0.971	0.98167	1.005	0.97279	D	0.990	0.99708	D	10	0.99403095	0.99916	D	0.803085	0.98461	D	0.987	0.99952	0.919	0.98532	0.994030760964	0.99396	0.9872250244594228	0.98716	1.37094743363	0.84529	0.906715273857	0.97150	D	0.970283	0.99671	D	0.574507	0.96689	D	0.587463	0.96634	D	0.999196231365204	0.96500	D	0.992884	0.97691	D	0.9195683	0.93206	0.87427396	0.93162	0.9195683	0.93206	0.87427396	0.93162	-12.035	0.85021	D	0.9890895693287228	0.99721	0.989	0.93386	P	.;.;.;.;.	.;.;.;.;.	4.657418	0.74301	26.1	0.99822716601073314	0.90502	0.96185	0.67925	D	AEFBCI	0.924880	0.90358	D	0.980170025604979	0.95103	13.31133	0.902196331347405	0.95667	13.84618	0.999999999999998	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	7.905000	0.86479	6.027000	0.52873	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	19.394	0.94589	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	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	0.04762	204.13	35	chr6	121447059	.	C	T	204.13	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.840e+00;DP=1087;ExcessHet=0.1072;FS=47.181;InbreedingCoeff=-0.0497;MLEAC=2;MLEAF=0.048;MQ=56.94;MQRankSum=-1.301e+00;QD=0.88;ReadPosRankSum=0.762;SOR=7.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,10:114:18:0|1:121447059_C_T:18,0,4202:121447059	19	0	2	0
chr6	121447061	121447061	A	G	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.A214G:p.I72V,	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.908	P	0.669	P	0.001	N	1.000	D	1.625	L	-5.54	D	1.093	D	0.938	D	0.697	3.371	17.36	5.5	2.089	9.287	15.605	0.787	0.250974127698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.908	0.50127	P	0.669	0.53077	P	0.001142	0.40056	N	0.240936	0.999999	0.58761	D	1.865	0.49290	L	-5.54	0.99184	D	-0.92	0.24676	N	0.498	0.53093	1.093	0.99378	D	0.938	0.97961	D	10	0.8795201	0.87257	D	0.250974	0.89113	D	0.787	0.92948	0.7	0.83684	0.943663086211	0.94307	0.8918822313251208	0.89158	0.856064958791	0.68761	0.738846123219	0.72803	T	0.763452	0.93610	D	0.34166	0.85945	D	0.252994	0.85761	D	0.803063251343763	0.46562	D	0.90391	0.66280	D	0.38390532	0.59598	0.3327721	0.59121	0.38390532	0.59598	0.3327721	0.59121	-6.188	0.47826	T	0.3332976928640002	0.43127	0.176	0.38426	B	.;.;.;.;.	.;.;.;.;.	3.909359	0.56999	23.8	0.99754698206370063	0.84537	0.97121	0.72812	D	AEFBCI	0.942640	0.94747	D	0.628616182966142	0.74992	6.227793	0.663610123529025	0.79629	7.123	0.999999999992006	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	9.325000	0.96006	9.424000	0.80768	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	15.605	0.76411	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	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	0.075	265.87	35	chr6	121447061	.	A	G	265.87	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-3.521e+00;DP=1371;ExcessHet=0.3300;FS=52.366;InbreedingCoeff=-0.0947;MLEAC=2;MLEAF=0.050;MQ=56.91;MQRankSum=-1.531e+00;QD=0.76;ReadPosRankSum=1.02;SOR=8.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,10:118:6:0|1:121447059_C_T:6,0,4289:121447059	17	0	3	1
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	0/2:7,0,14,0:24:99:.:.:439,418,584,0,205,189,418,584,205,584	3	0	1	0
chr6	129353336	129353336	C	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon32:c.C4696T:p.R1566C	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	954349	not_provided|LAMA2-related_muscular_dystrophy	MedGen:C3661900|MONDO:MONDO:0100228,MedGen:C5679788	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.18	B	0.079	B	0.000	D	1.000	D	1.445	L	0.01	T	-0.942	T	0.123	T	0.457	2.742	15.13	4.88	1.424	3.630	16.279	0.202	0.023691409546	.	.	4.122e-05	0	8.64e-05	0	0	1.5e-05	0	0.0002	4.53e-05	7	154602	rs777964192	3.694e-05	3.694e-05	2.859e-05	4.538e-05	0.0003	2.894e-05	2.592e-05	0.0002	0.0002	5.976e-05	2.236e-05	0	0	0	0.0002	1.349e-05	0.0002	0.0003	6.581e-05	6.57e-05	7.716e-05	5.392e-05	0.0002	3.522e-05	2.62e-05	6.292e-05	4.306e-05	0.0001	0	0	0	0	0	0.0032	2.941e-05	0	0.0002	0.026	0.46910	D	.	.	.	0.124	0.26825	B	0.028	0.21332	B	0.000001	0.84330	D	0.056936	0.999996	0.58761	D	0.72	0.18721	N	0.01	0.62459	T	-0.47	0.15178	N	0.39	0.46368	-0.9422	0.42266	T	0.123	0.42526	T	10	0.29599553	0.47166	T	0.023691	0.46661	T	0.202	0.48754	0.759	0.88811	0.565168447923	0.56179	0.5711101103547355	0.57039	0.125665507597	0.14166	0.412843644619	0.26851	T	0.014991	0.26110	T	-0.237048	0.15728	T	-0.28613	0.46174	T	0.0852709040045738	0.10647	T	0.907809	0.67374	D	0.19854833	0.41762	0.12992142	0.31229	0.19854833	0.41762	0.12992142	0.31229	-9.632	0.71678	D	0.13074796297542654	0.13784	0.314	0.54071	B	.;.;.	.;.;.	3.726023	0.53274	23.3	0.99788680619815417	0.87484	0.80758	0.40315	D	ALL	0.327814	0.42867	N	-0.0521834833809715	0.39505	2.33075	0.101505037874679	0.44626	2.740679	0.999999999999996	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.466023	0.07079	0	.	.	5.75	4.88	0.63131	3.664000	0.54263	5.928000	0.51272	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1334:0.8666:0.0:0.0	16.279	0.82485	839	0.37672	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	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	2153.98	33	chr6	129353336	.	C	T	2153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.502;DP=848;ExcessHet=0.0000;FS=0.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-9.580e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:74,85:159:99:2168,0,1763	20	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	1/2:2,14,11,0,0,0,0:27:99:.:.:554,237,384,333,0,515,612,367,478,793,612,367,478,793,793,612,367,478,793,793,793,612,367,478,793,793,793,793	6	0	4	0
chr6	152391580	152391580	-	AAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299476	Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0692	0.0572	0.0446	0.1472	0.0524	0.0572	0.0842	0.1106	0.0001921	5	26028	rs768125041	0.1080	0.1249	0.1087	0.1074	0.2456	0.1075	0.1073	0.2409	0.2389	0.0980	0.0497	0.0906	0.2456	0.0967	0.0955	0.1050	0.1115	0.1270	0.1623	0.1700	0.1628	0.1618	0.3566	0.1604	0.1596	0.3411	0.3349	0.1644	0.1811	0.1235	0.1686	0.3566	0.1421	0.1619	0.1554	0.1614	0.1968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7308.95	24	chr6	152391580	.	G	GA,GAAAAAA,GAAAAAAA,GAAAAA,GAAAA	7308.95	.	AC=1,8,7,3,3;AF=0.024,0.190,0.167,0.071,0.071;AN=42;BaseQRankSum=0.622;DP=985;ExcessHet=0.0204;FS=0.530;InbreedingCoeff=0.3977;MLEAC=1,8,6,3,3;MLEAF=0.024,0.190,0.143,0.071,0.071;MQ=60.00;MQRankSum=0.00;QD=19.44;ReadPosRankSum=-5.940e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/5:39,0,3,2,3,6:56:1:237,254,1882,35,1694,1663,110,1757,1645,1750,1,1660,1577,1581,1620,0,1639,1498,1525,1526,1617	7	0	0	0
chr6	152391580	152391580	-	AAAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	306417	not_specified|Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	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|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0448	0.0344	0.0254	0.0783	0.0226	0.0343	0.0734	0.0880	0.0001537	4	26028	rs768125041	0.1086	0.1266	0.1084	0.1088	0.2137	0.1081	0.1079	0.2093	0.2075	0.0746	0.0628	0.0804	0.2137	0.0676	0.1152	0.1067	0.1079	0.1495	0.1938	0.2020	0.1976	0.1896	0.3497	0.1918	0.1909	0.3343	0.3281	0.1441	0.1000	0.1623	0.2110	0.3497	0.0922	0.2573	0.2180	0.2055	0.2643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7308.95	24	chr6	152391580	.	G	GA,GAAAAAA,GAAAAAAA,GAAAAA,GAAAA	7308.95	.	AC=1,8,7,3,3;AF=0.024,0.190,0.167,0.071,0.071;AN=42;BaseQRankSum=0.622;DP=985;ExcessHet=0.0204;FS=0.530;InbreedingCoeff=0.3977;MLEAC=1,8,6,3,3;MLEAF=0.024,0.190,0.143,0.071,0.071;MQ=60.00;MQRankSum=0.00;QD=19.44;ReadPosRankSum=-5.940e-01;SOR=0.657	GT:AD:DP:GQ:PL	0/5:39,0,3,2,3,6:56:1:237,254,1882,35,1694,1663,110,1757,1645,1750,1,1660,1577,1581,1620,0,1639,1498,1525,1526,1617	7	0	0	0
chr6	152433878	152433878	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon34:c.G4399A:p.V1467I	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	301996	Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type|not_provided	MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.19	T	0.002	B	0.001	B	0.227	N	1.000	N	0.69	N	1.36	T	-1.068	T	0.041	T	0.031	1.485	10.91	-7.11	-1.432	-1.521	18.974	0.070	0.00369947736896	.	0.000199681	0.0002	0	0.0003	0.0003	0	0.0002	0	0.0001	0.000207	32	154602	rs376463379	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0005	0.0004	5.976e-05	0.0002	0	0.0007	0	0	0.0001	0.0001	9.276e-05	0.0001	0.0001	0.0002	0.0001	0.0008	9.741e-05	8.255e-05	0.0003	0.0002	0.0001	0	0	0	0.0008	0	0	0.0002	0	0.0002	0.504	0.17881	T	0.518	0.18232	T	0.002	0.09854	B	0.0	0.04355	B	0.226792	0.03492	N	1.566410	1	0.08975	N	-0.51	0.02586	N	1.36	0.34452	T	-0.04	0.07882	N	0.044	0.06990	-1.0680	0.09858	T	0.041	0.17530	T	10	0.017098635	0.00363	T	0.003699	0.08558	T	0.070	0.20419	.	.	0.0986583533028	0.09354	0.024673452279633634	0.02418	0.105802100972	0.11961	0.207214340568	0.00699	T	0.078336	0.35868	T	-0.619785	0.00110	T	-0.827731	0.01303	T	0.0101372020909947	0.00137	T	0.738026	0.36245	T	0.028261343	0.02137	0.046550453	0.06513	0.028261343	0.02136	0.046550453	0.06512	-4.362	0.29037	T	.	.	0.062	0.01309	B	.;.;.;.	.;.;.;.	-0.551945	0.01707	0.125	0.72890113557681602	0.10132	0.01629	0.05256	N	AEFI	0.067500	0.13272	N	-1.30804969420144	0.03582	0.1602787	-1.34230790457454	0.03897	0.182738	0.0535540348591579	0.14942	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	-7.11	0.01389	-1.458000	0.02478	-7.369000	0.01171	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.975000	0.56047	0.0:0.6983:0.0:0.3017	18.974	0.92704	734	0.53889	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	1701.98	34	chr6	152433878	.	C	T	1701.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.460e-01;DP=806;ExcessHet=0.0000;FS=3.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=-9.530e-01;SOR=0.449	GT:AD:DP:GQ:PL	0/1:51,72:123:99:1716,0,1092	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	0/1:35,6:41:47:47,0,867	16	0	5	0
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	136006	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0538	0.0989	0.0432	0.0847	0.0282	0.0395	0.0472	0.0948	0.0001537	4	26028	rs112083427	0.2067	0.2951	0.1908	0.2228	0.4566	0.2057	0.2053	0.4473	0.4435	0.2151	0.4566	0.3745	0.4431	0.4300	0.2950	0.1554	0.2683	0.3748	0.2313	0.2572	0.2287	0.2342	0.3402	0.2291	0.2282	0.3316	0.3280	0.1263	0.1041	0.3402	0.2648	0.2368	0.3166	0.3025	0.2555	0.2464	0.2883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:44,0,47:91:99:1|0:170561949_GCAA_G:1333,1443,4410,0,1728,1333:170561949	1	1	3	2
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|1:52,78:130:99:0|1:21867834_G_GT:3009,0,1923:21867834	0	12	9	0
chr7	30633897	30633898	AA	-	UTR3	GARS1	NM_001316772:c.*37_*38delAA;NM_002047:c.*37_*38delAA	.	.	.	.	338	128	20	2	1034	1058	0.0857143	.	.	311092	Distal_spinal_muscular_atrophy|Peripheral_axonal_neuropathy|not_provided|Charcot-Marie-Tooth_disease_type_2	MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1458	0.1444	0.1211	0.1934	0.0825	0.1342	0.1377	0.1975	0.001921	50	26028	rs1264036389	0.1231	0.1309	0.1212	0.1251	0.1942	0.1226	0.1224	0.1901	0.1884	0.1278	0.0990	0.1304	0.1942	0.0985	0.1716	0.1165	0.1342	0.1800	0.1053	0.1040	0.1039	0.1069	0.2053	0.1039	0.1033	0.1943	0.1899	0.1248	0.0146	0.0971	0.0960	0.1870	0.0699	0.1181	0.0886	0.1355	0.2053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	10366.48	21	chr7	30633896	.	TAA	T,TA	10366.48	.	AC=12,18;AF=0.300,0.450;AN=40;BaseQRankSum=-5.890e-01;DP=815;ExcessHet=3.2961;FS=0.722;InbreedingCoeff=-0.2573;MLEAC=12,18;MLEAF=0.300,0.450;MQ=60.00;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.194;SOR=0.739	GT:AD:DP:GQ:PL	1/2:0,10,9:19:99:519,206,179,243,0,190	0	1	3	1
chr7	75985701	75985701	C	T	exonic	POR	.	synonymous SNV	POR:NM_001382662:exon12:c.C1371T:p.G457G	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Autosomal recessive;Disordered steroidogenesis due to cytochrome P450 oxidoreductase	.	1	1520	1	0	0	1	0.000328839	.	.	306796	Congenital_adrenal_hyperplasia_due_to_cytochrome_P450_oxidoreductase_deficiency|not_specified|not_provided	MONDO:MONDO:0013310,MedGen:C1860042,OMIM:613571,Orphanet:95699|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.962	T	0.118	T	.	-1.204	0.070	-4.31	-0.639	-0.077	4.507	0.016	.	0.0005	0.000599042	0.0006	0.0005	0.0029	0	0	0.0006	0.0060	0	0.0002781	43	154602	rs370823127	0.0003	0.0003	0.0003	0.0003	0.0026	0.0003	0.0003	0.0016	0.0013	0.0006	0.0010	0	0	0	0.0026	0.0003	0.0004	2.434e-05	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	0.0006	0	0.0008	0	0	0	0.0034	0.0003	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.02381	1816.98	46	chr7	75985701	.	C	T	1816.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.208e+00;DP=1049;ExcessHet=0.0000;FS=2.284;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=-5.250e-01;SOR=0.519	GT:AD:DP:GQ:PL	0/1:52,75:127:99:1831,0,1252	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	0/2:25,2,27:54:99:.:.:613,622,1472,0,608,513	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	1/1:0,54,0,0,0,0:54:99:2388,161,0,2389,163,2391,2389,163,2391,2391,2389,163,2391,2391,2391,2389,163,2391,2391,2391,2391	0	9	5	0
chr7	106017935	106017935	C	T	exonic	CDHR3	.	nonsynonymous SNV	CDHR3:NM_001301161:exon11:c.C1252T:p.L418F	.	.	428	1081	13	0	0	13	0.00597701	.	.	1284223	not_provided|Susceptibility_to_nonsyndromic_otitis_media	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.884	P	0.622	P	0.274	N	1.000	N	2.115	M	-1.66	D	-0.568	T	0.431	T	0.141	2.427	14.07	-1.88	-0.226	-0.162	1.712	0.408	.	0.0045	0.00359425	0.0062	0.0021	0.0071	0	0.0032	0.0088	0.0129	0.0016	0.0045666	706	154602	rs76067797	0.0049	0.0049	0.0049	0.0049	0.0177	0.0048	0.0047	0.0149	0.0139	0.0019	0.0050	0.0066	7.56e-05	0.0031	0.0177	0.0053	0.0056	0.0022	0.0042	0.0042	0.0044	0.0039	0.0061	0.0039	0.0038	0.0057	0.0055	0.0014	0	0.0044	0.0046	0.0002	0.0040	0.0204	0.0061	0.0090	0.0008	0.044	0.44029	D	0.051	0.47828	T	0.884	0.48618	P	0.622	0.51475	P	0.273709	0.03788	N	1.539750	1	0.08975	N	1.7	0.43825	L	-1.66	0.82715	D	-1.04	0.27876	N	0.071	0.04426	-0.5679	0.66099	T	0.431	0.77284	T	10	0.004099518	0.00080	T	.	.	.	0.408	0.72022	.	.	0.624018827985	0.62096	0.08811006681072454	0.08744	0.0395402123316	0.04217	0.210277408361	0.00823	T	0.003737	0.13282	T	-0.421169	0.01681	T	-0.375284	0.36272	T	0.0159610453110415	0.00379	T	0.508249	0.16760	T	0.0897766	0.20988	0.082048506	0.18695	0.0897766	0.20988	0.082048506	0.18694	-5.089	0.37791	T	.	.	0.073	0.05756	B	.;.	.;.	1.581865	0.20241	14.66	0.99604673751152728	0.74397	0.07323	0.13344	N	AEFDBHCIJ	0.063896	0.12377	N	-0.332726579874717	0.27912	1.535229	-0.515309838379762	0.21738	1.177336	0.999999985873122	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.48	-1.88	0.07294	-0.149000	0.10189	0.256000	0.16486	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.969000	0.54022	0.3165:0.3288:0.2086:0.1462	1.712	0.02718	925	0.17918	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1729.98	33	chr7	106017935	.	C	T	1729.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.345;DP=869;ExcessHet=0.0000;FS=1.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.89;ReadPosRankSum=0.740;SOR=0.894	GT:AD:DP:GQ:PL	0/1:100,75:175:99:1744,0,2546	20	0	1	0
chr7	117548682	117548682	C	A	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon10:c.C1251A:p.N417K,	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	.	7	1216	298	1	0	300	0.10981	.	.	190755	CFTR-related_disorder|not_provided|Cystic_fibrosis|not_specified	.|MedGen:C3661900|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.99	T	0.0	B	0.002	B	0.045	N	1.000	N	0.41	N	-2.9	D	-0.614	T	0.442	T	0.434	-1.229	0.059	-4.06	-0.646	-0.031	12.871	0.390	.	.	.	0.0189	0.0352	0.0091	0.0093	0.0123	0.0241	0.0131	0.0072	0.001216	188	154602	rs4727853	0.0012	0.0451	0.0012	0.0012	0.0019	0.0011	0.0011	0.0015	0.0014	0.0016	0.0016	0.0019	0.0019	0.0035	0.0011	0.0009	0.0017	0.0014	0.0204	0.1031	0.0179	0.0230	0.0241	0.0196	0.0192	0.0213	0.0202	0.0168	0.0071	0.0241	0.0106	0.0191	0.0665	0.0379	0.0159	0.0273	0.0202	0.51	0.07594	T	0.912	0.02943	T	0.0	0.02946	B	0.002	0.06944	B	0.045219	0.23560	N	0.498441	1	0.08975	N	0.49	0.13296	N	-2.9	0.91903	D	0.33	0.03889	N	0.243	0.27435	-0.6137	0.64250	T	0.442	0.77989	T	10	0.004736215	0.00100	T	.	.	.	0.390	0.70603	0.434	0.48500	.	.	0.4743889881520354	0.47357	0.00382918843929	0.00329	0.264762341976	0.05471	T	0.297803	0.67039	T	0.00694462	0.52609	T	-0.227801	0.51984	T	0.00325921718844699	0.00034	T	0.675632	0.28413	T	0.17593238	0.38478	0.14130402	0.33655	0.17593238	0.38478	0.14130402	0.33654	-3.165	0.12058	T	0.13264472276997016	0.14160	0.101	0.17700	B	.;.	.;.	-0.244677	0.02871	0.407	0.23070866960417302	0.00958	0.07841	0.13834	N	AEFGI	0.092700	0.18765	N	-1.29695841533999	0.03712	0.1663168	-1.32483229867199	0.04112	0.1932412	0.0114897487815331	0.12192	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567339	0.31927	0	.	.	4.85	-4.06	0.03718	-0.073000	0.11428	-2.480000	0.03702	0.599000	0.40250	0.090000	0.22578	0.000000	0.08366	0.649000	0.32665	0.0:0.3313:0.0:0.6687	12.871	0.57355	752	0.51611	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.09524	289.91	116	chr7	117548682	.	C	A	289.91	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.648e+00;DP=1402;ExcessHet=0.6776;FS=1.748;InbreedingCoeff=-0.1049;MLEAC=4;MLEAF=0.095;MQ=52.52;MQRankSum=-5.630e+00;QD=0.62;ReadPosRankSum=0.576;SOR=0.594	GT:AD:DP:GQ:PL	0/1:119,20:139:77:77,0,3499	17	0	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	0/1:84,71:155:99:1777,0,2125	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	0/1:62,36:98:99:349,0,913	6	0	15	0
chr7	142749524	142749524	C	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon1:c.C40G:p.L14V,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1184	338	0	0	338	0.124908	0	0.172	933718	not_provided|Hereditary_pancreatitis	MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.090	N	0.999	N	0.305	N	-3.18	D	-0.656	T	0.520	D	0.084	-2.546	0.003	2.43	0.685	1.840	11.878	0.221	.	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs747228052	0.0163	0.0916	0.0159	0.0166	0.0302	0.0161	0.0160	0.0284	0.0277	0.0302	0.0266	0.0367	0.0149	0.0869	0.0146	0.0136	0.0244	0.0024	0.3494	0.3861	0.3542	0.3444	0.4130	0.3464	0.3452	0.4068	0.4042	0.4130	0.3354	0.3561	0.3511	0.1063	0.3526	0.2554	0.3440	0.3432	0.1690	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.089679	0.20415	N	0.498441	0.999154	0.21565	N	-0.055	0.04927	N	-3.18	0.93111	D	1.4	0.00835	N	0.1	0.09631	-0.6563	0.62439	T	0.520	0.82091	D	10	0.09526378	0.17002	T	0.081841	0.73770	D	0.221	0.51721	.	.	0.74833783201	0.74606	0.6303402522407332	0.62968	0.16419798022	0.18528	0.351473480463	0.18139	T	0.18894	0.54300	T	-0.0866624	0.38626	T	-0.362261	0.37790	T	0.0625269785523415	0.07561	T	.	.	.	0.03509291	0.04065	0.09660669	0.22962	0.03509291	0.04065	0.09660669	0.22961	-3.639	0.18422	T	.	.	0.061	0.01042	B	.;.;.	.;.;.	0.943023	0.13190	9.689	0.10035292204727132	0.00117	0.01979	0.05984	N	AEFDBI	0.044097	0.07052	N	-0.973998565507978	0.09162	0.4324695	-0.844955323986839	0.13408	0.6954354	0.00552028722970171	0.10963	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.32	2.43	0.28797	2.003000	0.40464	.	.	-0.319000	0.05888	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.1794:0.8206:0.0	11.878	0.51835	776	0.48302	.;.;.	.	.	.	.	.	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	0.2619	6566.3	235	chr7	142749524	.	C	G	6566.3	.	AC=11;AF=0.262;AN=42;BaseQRankSum=4.38;DP=4162;ExcessHet=7.7275;FS=14.002;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=58.17;MQRankSum=-1.853e+01;QD=1.81;ReadPosRankSum=-3.398e+00;SOR=2.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,49:371:99:0|1:142749506_A_G:1086,0,13368:142749506	10	0	11	0
chr7	142750561	142750561	C	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.C47T:p.A16V,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	YES	0	788	734	0	0	734	0.317749	.	.	46925	Recurrent_pancreatitis|Hereditary_pancreatitis|not_provided	Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.002	B	0.019	N	0.986	N	0.825	L	-3.17	D	-0.577	T	0.542	D	0.671	0.269	5.455	0.989	0.076	0.750	7.043	0.524	.	.	.	0.0160	0.0479	0.0047	0.0021	0.0128	0.0164	0.0210	0.0113	0.0135833	2100	154602	rs202003805	0.2021	0.3260	0.1994	0.2049	0.3871	0.2013	0.2010	0.3798	0.3768	0.3871	0.3293	0.2961	0.1035	0.3682	0.1866	0.1904	0.2197	0.1188	0.3862	0.4088	0.3910	0.3812	0.4582	0.3832	0.3820	0.4521	0.4495	0.4582	0.3653	0.3885	0.3815	0.1497	0.3882	0.3266	0.3733	0.3802	0.2128	0.566	0.06502	T	0.351	0.19721	T	0.0	0.02946	B	0.002	0.06944	B	0.018559	0.27457	N	0.446479	0.985655	0.24690	N	0.625	0.15840	N	-3.17	0.93054	D	-0.01	0.07155	N	0.072	0.08366	-0.5774	0.65720	T	0.542	0.83122	D	10	0.0054525733	0.00120	T	.	.	.	0.524	0.79825	.	.	.	.	0.5690087331218414	0.56828	0.162344706958	0.18315	0.232086211443	0.02126	T	0.208591	0.56856	T	0.119743	0.66346	D	-0.0657736	0.65926	T	0.0260900631546974	0.01419	T	.	.	.	0.016501123	0.00202	0.035258744	0.02744	0.015689086	0.00152	0.033967946	0.02380	-4.735	0.33824	T	.	.	0.128	0.27373	B	.;.;.	.;.;.	0.257558	0.06365	2.827	0.30547631428140182	0.01676	0.01640	0.05278	N	AEFDBI	0.139100	0.26059	N	-1.28146295350348	0.03898	0.1749983	-1.30565312385982	0.04356	0.2053128	0.136983366606344	0.17200	0.549168	0.22868	0	0.627178	0.54094	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	3.49	0.989	0.18920	0.485000	0.22033	.	.	-1.601000	0.00893	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2125:0.0:0.7875	7.043	0.24210	776	0.48302	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	0.3571	22149.38	121	chr7	142750561	.	C	T	22149.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.697e+00;DP=2539;ExcessHet=17.4423;FS=2.788;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=56.74;MQRankSum=-9.685e+00;QD=9.67;ReadPosRankSum=-3.250e-01;SOR=0.501	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,60:167:99:.:.:2079,0,2894	6	0	15	0
chr7	142750680	142750680	C	T	exonic	PRSS1	.	stopgain	PRSS1:NM_002769:exon2:c.C166T:p.Q56X,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1242	280	0	0	280	0.101302	.	.	933720	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	.	.	.	.	0.017	N	1.000	A	.	.	.	.	.	.	.	.	.	2.152	13.15	2.59	0.757	0.450	12.188	.	.	.	.	0.0318	0.0685	0.0106	0.0041	0.0339	0.0291	0.0474	0.0480	0.0003074	8	26028	rs147366981	0.0267	0.1326	0.0229	0.0307	0.0653	0.0265	0.0263	0.0624	0.0612	0.0570	0.0653	0.0663	0.0176	0.1422	0.0264	0.0220	0.0394	0.0170	0.2451	0.3472	0.2492	0.2408	0.3469	0.2422	0.2410	0.3402	0.3375	0.3469	0.2122	0.2373	0.2308	0.0477	0.2609	0.1513	0.2221	0.2305	0.0781	.	.	.	.	.	.	.	.	.	.	.	.	0.016899	0.27861	N	0.410325	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.711	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416393	0.90831	D	0.360343	0.90716	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	4.129577	0.61790	24.4	0.99516745074967428	0.68979	0.11811	0.16877	N	AEFDBI	0.295314	0.40546	N	0.145216833814894	0.48585	3.069039	-0.169272407184608	0.32673	1.861256	0.255023528038656	0.18723	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	2.59	0.30091	0.110000	0.15273	.	.	-2.564000	0.00244	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.8252:0.1747:0.0	12.188	0.53561	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.3333	11579.59	103	chr7	142750680	.	C	T	11579.59	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.980e-01;DP=2593;ExcessHet=14.4320;FS=1.494;InbreedingCoeff=-0.5074;MLEAC=14;MLEAF=0.333;MQ=58.14;MQRankSum=-1.043e+01;QD=5.26;ReadPosRankSum=-1.991e+00;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,22:166:99:.:.:499,0,5814	7	0	14	0
chr7	142751871	142751871	G	A	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon3:c.G298A:p.D100N,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1214	308	0	0	308	0.112573	.	.	1856639	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.033	N	1.000	N	-0.32	N	-2.24	D	-0.675	T	0.367	T	0.262	-2.545	0.003	0.447	0.036	1.484	7.122	0.229	0.0428779939056	.	.	9.889e-05	9.625e-05	0	0.0001	0	0.0001	0	0	3.84e-05	1	26028	rs199507985	0.0051	0.1108	0.0042	0.0059	0.0058	0.0049	0.0049	0.0049	0.0048	0.0056	0.0014	0.0020	0.0003	0.0259	0.0058	0.0050	0.0037	0.0004	0.0108	0.0956	0.0113	0.0103	0.0183	0.0103	0.0101	0.0169	0.0163	0.0183	0.0092	0.0097	0.0055	0.0016	0.0118	0.0052	0.0086	0.0199	0.0039	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.033468	0.24894	N	0.524529	1	0.08975	N	-0.69	0.01958	N	-3.0	0.92158	D	1.9	0.00629	N	0.239	0.29429	-0.6747	0.61616	T	0.367	0.72727	T	10	0.023464203	0.00615	T	0.042878	0.60692	D	0.229	0.52916	0.66	0.79791	0.581723300495	0.57844	0.32847795118294976	0.32760	0.158480649337	0.17896	0.271346330643	0.06317	T	0.315631	0.68723	T	-0.016682	0.49325	T	-0.261739	0.48651	T	0.0383265241498447	0.03389	T	.	.	.	0.11146873	0.26341	0.07788485	0.17394	0.11146873	0.26341	0.07788485	0.17393	-3.152	0.11903	T	.	.	0.130	0.27968	B	.;.;.;.	.;.;.;.	0.306948	0.06821	3.348	0.23833427681071562	0.01026	0.02802	0.07524	N	AEFDBI	0.128302	0.24603	N	-1.45322892256066	0.02191	0.09649168	-1.40637236865901	0.03188	0.14819	0.00205546323774988	0.09120	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	0.447	0.15819	1.399000	0.34175	.	.	-0.330000	0.05784	0.098000	0.22752	0.000000	0.08366	0.001000	0.02609	0.787:0.0:0.213:0.0	7.122	0.24626	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	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	0.1053	1438.94	45	chr7	142751871	.	G	A	1438.94	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.582;DP=2791;ExcessHet=0.6776;FS=6.814;InbreedingCoeff=-0.1379;MLEAC=4;MLEAF=0.105;MQ=58.93;MQRankSum=-1.690e+01;QD=0.98;ReadPosRankSum=-1.329e+00;SOR=1.347	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:298,22:320:27:0|1:142751865_C_A:27,0,12343:142751865	15	0	4	2
chr7	142752950	142752950	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon5:c.A674G:p.K225R,	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	.	0	1276	246	0	0	246	0.0879199	.	.	489825	not_specified|not_provided|Hereditary_pancreatitis	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.002	B	0.437	N	1.000	N	0.485	N	-2.38	D	-0.775	T	0.356	T	0.205	-0.839	0.576	-4.1	-0.871	0.195	4.484	0.241	0.0563907113932	.	0.000199681	4.12e-05	9.638e-05	0	0.0002	0	0	0	0.0001	0.0026126	68	26028	rs541223359	0.0001	0.0444	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0002	8.039e-05	0.0001	0.0001	0.0003	0.0002	0.0001	0.0002	0.0003	0.0625	0.2471	0.0635	0.0614	0.1148	0.0610	0.0604	0.1107	0.1090	0.1148	0.0323	0.0683	0.0422	0.0110	0.0760	0.0427	0.0445	0.0571	0.0198	0.48	0.09572	T	0.352	0.17372	T	0.0	0.02946	B	0.002	0.06944	B	0.436750	0.12679	N	0.782790	0.999998	0.08975	N	0.355	0.11969	N	-2.38	0.88298	D	-1.0	0.26422	N	0.087	0.07125	-0.7748	0.56592	T	0.356	0.71850	T	10	0.07178062	0.10627	T	0.056391	0.66588	D	0.241	0.54641	.	.	0.459642846412	0.45589	0.5199644332738709	0.51919	0.132481952341	0.14936	0.202874571085	0.00545	T	0.394159	0.75337	T	-0.0844771	0.38985	T	-0.359122	0.38153	T	0.00933494863009668	0.00119	T	.	.	.	0.111516565	0.26353	0.10829246	0.26085	0.111516565	0.26353	0.10829246	0.26084	-3.264	0.13277	T	.	.	0.104	0.18746	B	.;.;.	.;.;.	-1.224358	0.00507	0.011	0.38899255705893293	0.02652	0.04907	0.10657	N	AEFBI	0.190157	0.31739	N	-1.77807229907533	0.00601	0.02589842	-1.78133773023897	0.00821	0.03665607	0.00183854746915247	0.08930	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.18	-4.1	0.03674	0.006000	0.13051	.	.	-2.707000	0.00208	0.000000	0.06391	0.000000	0.08366	0.369000	0.26088	0.6101:0.0:0.2543:0.1356	4.484	0.11193	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	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	0.1905	2761.87	201	chr7	142752950	.	A	G	2761.87	.	AC=8;AF=0.190;AN=42;BaseQRankSum=1.46;DP=4098;ExcessHet=3.5521;FS=4.793;InbreedingCoeff=-0.2347;MLEAC=8;MLEAF=0.190;MQ=58.89;MQRankSum=-1.419e+01;QD=1.19;ReadPosRankSum=-4.179e+00;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,38:309:99:0|1:142752947_A_G:780,0,11224:142752947	13	0	8	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	0/2:190,0,203:393:99:.:.:7767,8381,16374,0,7993,7382	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	0/2:190,0,203:393:99:.:.:7767,8381,16374,0,7993,7382	3	1	5	0
chr8	27803549	27803549	-	ACAC	UTR3	ESCO2	NM_001017420:c.*111_*112insACAC	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	314100	Roberts-SC_phocomelia_syndrome|not_provided	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs144484866	0.2917	0.2737	0.2932	0.2903	0.3319	0.2909	0.2906	0.3158	0.3093	0.1909	0.2424	0.3492	0.0874	0.2780	0.3319	0.3039	0.2895	0.2493	0.3026	0.3027	0.3028	0.3024	0.3550	0.3003	0.2993	0.3512	0.3497	0.2176	0.2777	0.3136	0.4715	0.0718	0.3370	0.3690	0.3550	0.3395	0.2897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	1747.58	4	chr8	27803549	.	T	TACAC,TAC	1747.58	.	AC=6,8;AF=0.214,0.286;AN=28;BaseQRankSum=0.431;DP=246;ExcessHet=0.0134;FS=6.540;InbreedingCoeff=0.2199;MLEAC=7,10;MLEAF=0.250,0.357;MQ=59.93;MQRankSum=0.00;QD=10.85;ReadPosRankSum=1.07;SOR=1.084	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3,0:3:9:1|1:27803549_T_TACAC:135,9,0,135,9,135:27803549	5	2	1	7
chr8	27803549	27803549	-	AC	UTR3	ESCO2	NM_001017420:c.*111_*112insAC	.	.	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	313989	Roberts-SC_phocomelia_syndrome|not_provided	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs144484866	0.4041	0.4118	0.4055	0.4027	0.4982	0.4031	0.4027	0.4913	0.4885	0.3718	0.4614	0.3295	0.4982	0.3682	0.3292	0.4060	0.3981	0.3697	0.4399	0.4405	0.4415	0.4382	0.6505	0.4370	0.4359	0.6320	0.6245	0.4337	0.5066	0.5022	0.2907	0.6505	0.3778	0.3655	0.4312	0.4163	0.4347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	1747.58	4	chr8	27803549	.	T	TACAC,TAC	1747.58	.	AC=6,8;AF=0.214,0.286;AN=28;BaseQRankSum=0.431;DP=246;ExcessHet=0.0134;FS=6.540;InbreedingCoeff=0.2199;MLEAC=7,10;MLEAF=0.250,0.357;MQ=59.93;MQRankSum=0.00;QD=10.85;ReadPosRankSum=1.07;SOR=1.084	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3,0:3:9:1|1:27803549_T_TACAC:135,9,0,135,9,135:27803549	5	2	1	7
chr8	47962392	47962392	A	G	exonic	MCM4	.	nonsynonymous SNV	MCM4:NM_005914:exon4:c.A487G:p.K163E	Natural killer cell and glucocorticoid deficiency with DNA repair defect, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	314607	not_provided|Primary_immunodeficiency_with_natural-killer_cell_deficiency_and_adrenal_insufficiency	MedGen:C3661900|MONDO:MONDO:0012383,MedGen:C1864947,OMIM:609981,Orphanet:75391	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.126	B	0.06	B	0.000	D	1.000	D	2.165	M	2.72	T	-1.121	T	0.047	T	0.789	2.732	15.09	5.61	2.142	8.653	15.803	0.207	0.0360211033476	0.0008	.	0.0006	0	8.649e-05	0	0.0002	0.0009	0.0011	0.0004	0.0005627	87	154602	rs34206069	0.0005	0.0005	0.0004	0.0005	0.0062	0.0004	0.0004	0.0046	0.0041	0.0001	0.0003	0.0053	0	0.0003	0.0062	0.0003	0.0010	0.0004	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0004	0.0004	4.81e-05	0	0.0003	0.0060	0	0.0004	0.0068	0.0006	0.0009	0.0008	0.175	0.22400	T	0.624	0.07342	T	0.126	0.26920	B	0.06	0.26717	B	0.000000	0.84330	D	0.090253	1	0.81001	D	2.79	0.81396	M	2.72	0.11947	T	-2.11	0.48020	N	0.694	0.69913	-1.1215	0.02239	T	0.047	0.19958	T	9	0.013287008	0.00282	T	0.036021	0.56721	D	0.207	0.49555	.	.	0.220303561663	0.21668	0.6464708432910536	0.64582	0.296881417285	0.32077	0.691836297512	0.65969	T	0.211728	0.57258	T	-0.230912	0.16527	T	-0.117695	0.61990	T	0.0680417964843266	0.08374	T	0.914909	0.71446	D	0.76549876	0.81779	0.65940475	0.80047	0.7058984	0.78382	0.70069766	0.82366	-14.744	0.95224	D	0.35545787551828145	0.45234	0.723	0.76291	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.602358	0.50884	23.0	0.985095756757287	0.42325	0.99156	0.92054	D	AEFDGBCI	0.948456	0.96010	D	0.194967922276197	0.50958	3.280963	0.345863227491561	0.58259	3.995446	0.999999999999242	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	5.61	5.61	0.85347	8.697000	0.91034	11.227000	0.89965	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.803	0.78241	542	0.72843	.;.;MCM N-terminal domain;.;MCM N-terminal domain;MCM N-terminal 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	1154.98	33	chr8	47962392	.	A	G	1154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.810e-01;DP=776;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-7.830e-01;SOR=0.553	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1169,0,899	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	2/2:0,0,11:11:33:.:.:418,418,418,33,33,0	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	2/2:0,0,11:11:33:.:.:418,418,418,33,33,0	9	0	7	0
chr8	133284319	133284319	C	T	UTR5	NDRG1	NM_001135242:c.-8G>A;NM_006096:c.-8G>A;NM_001258433:c.-22190G>A;NM_001374846:c.-8G>A;NM_001374845:c.-8G>A;NM_001374844:c.-8G>A	.	.	Charcot-Marie-Tooth disease, type 4D, Autosomal recessive	.	0	1511	11	0	0	11	0.00362677	.	.	369726	Charcot-Marie-Tooth_disease_type_4D|not_specified|NDRG1-related_disorder	MONDO:MONDO:0011085,MedGen:C1832334,OMIM:601455,Orphanet:99950|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	.	.	.	.	.	.	1.000	D	.	.	2.16	T	-1.101	T	0.060	T	0.083	1.672	11.55	2.27	0.309	0.034	3.768	0.031	.	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0005	0.0001294	20	154602	rs200465804	8.688e-05	8.687e-05	6.942e-05	0.0001	0.0007	7.42e-05	6.969e-05	0.0002	0.0001	8.961e-05	0.0002	0	0	0	0.0007	7.554e-05	0.0001	0.0002	9.852e-05	9.842e-05	0.0001	6.715e-05	0.0003	6.004e-05	4.878e-05	8.87e-05	5.281e-05	2.41e-05	0	0.0003	0	0	0	0	0.0001	0.0005	0.0002	0.166	0.72154	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.11	0.22270	T	-0.14	0.10136	N	.	.	-1.1005	0.04032	T	0.060	0.25237	T	6	0.034657508	0.01682	T	.	.	.	0.031	0.07369	.	.	0.235038932564	0.23097	.	.	.	.	.	.	.	0.048281	0.28203	T	-0.513506	0.00479	T	-0.659236	0.08318	T	0.0288033447042727	0.01807	T	0.335866	0.07168	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.31125	B	.;.;.	.;.;.	1.295355	0.16964	12.88	0.96827766062604592	0.31252	0.34746	0.25140	N	AEFDGBHCI	0.094072	0.19025	N	-0.317652983906924	0.28477	1.571052	-0.351292697870645	0.26470	1.462224	0.999999856695107	0.74766	0.615465	0.37627	0	0.693144	0.66847	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.03	2.27	0.27501	-0.021000	0.12445	-0.357000	0.09702	-0.821000	0.02958	0.369000	0.25916	0.000000	0.08366	0.969000	0.54022	0.1706:0.576:0.1645:0.0889	3.768	0.08153	906	0.23090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1783.98	34	chr8	133284319	.	C	T	1783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.281;DP=887;ExcessHet=0.0000;FS=3.487;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=0.600;SOR=0.962	GT:AD:DP:GQ:PL	0/1:110,72:182:99:1798,0,2935	20	0	1	0
chr8	144416027	144416027	G	A	exonic	SLC39A4	.	nonsynonymous SNV	SLC39A4:NM_017767:exon1:c.C182T:p.P61L	Acrodermatitis enteropathica, Autosomal recessive	YES	0	1468	50	4	0	58	0.0193721	.	.	304624	Hereditary_acrodermatitis_enteropathica|not_provided	MONDO:MONDO:0008713,MedGen:C0221036,OMIM:201100,Orphanet:37|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.006	B	0.001	B	0.001	N	1.000	N	0.55	N	0.62	T	-1.031	T	0.058	T	0.092	2.014	12.69	-1.59	-0.305	-0.416	3.545	0.044	0.0449013786341	0.0016	0.000998403	0.0021	0.0009	0.0019	0.0004	0	0.0024	0.0079	0.0028	0.001313	203	154602	rs187080747	0.0014	0.0014	0.0012	0.0015	0.0371	0.0013	0.0013	0.0330	0.0315	0.0012	0.0013	0.0140	0.0003	4.448e-05	0.0371	0.0008	0.0030	0.0031	0.0011	0.0011	0.0011	0.0011	0.0014	0.0010	0.0009	0.0009	0.0008	0.0002	0	0.0014	0.0135	0.0004	0	0.0204	0.0011	0.0019	0.0010	0.032	0.44694	D	0.028	0.54934	D	0.002	0.09854	B	0.001	0.04355	B	0.000906	0.00708	N	3.794710	1	0.08975	N	1.32	0.33002	L	0.62	0.53302	T	-1.47	0.35991	N	0.089	0.15469	-1.0307	0.20227	T	0.058	0.24428	T	10	0.0048852265	0.00104	T	0.044901	0.61720	D	0.044	0.11924	.	.	0.300784259202	0.29686	0.4110761476787007	0.41023	0.130730633886	0.14752	0.433279931545	0.29657	T	0.046456	0.27431	T	-0.630726	0.00095	T	-0.682762	0.06816	T	0.00352813068109344	0.00037	T	0.580842	0.21027	T	0.03590363	0.04316	0.042633068	0.05121	0.034164343	0.03779	0.056370575	0.10059	-4.155	0.31869	T	.	.	0.119	0.24599	B	.;.	.;.	0.444568	0.08149	4.879	0.94716817475581216	0.25385	0.06751	0.12773	N	AEFBCI	0.096460	0.19473	N	-1.13734089852011	0.05990	0.2746098	-1.19798347222329	0.05943	0.2846568	0.999688670972249	0.41756	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.17	-1.59	0.08003	-1.747000	0.01926	-0.271000	0.10347	0.611000	0.49015	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0849:0.1347:0.3678:0.4126	3.545	0.07380	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1203.98	47	chr8	144416027	.	G	A	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=1026;ExcessHet=0.0000;FS=6.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-6.930e-01;SOR=0.301	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1218,0,1157	20	0	1	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	1/1:0,75,0:75:99:3319,226,0,3319,226,3319	2	5	5	0
chr9	22003368	22003368	G	A	ncRNA_intronic	CDKN2B-AS1	.	.	.	.	YES	1453	29	2	38	0	78	0.573529	.	.	800881	Malignant_tumor_of_breast|Three_Vessel_Coronary_Disease	MONDO:MONDO:0007254,MedGen:C0006142|MedGen:C3272265	no_assertion_criteria_provided	Likely_pathogenic|protective	Neoplasm	Human_Phenotype_Ontology:HP:0002664,Human_Phenotype_Ontology:HP:0003008,Human_Phenotype_Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,MedGen:C0027651	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794728	.	.	.	.	.	.	.	.	0.109727	16964	154602	rs1063192	0.6518	0.0913	0.6531	0.6503	0.9314	0.6469	0.6448	0.9046	0.8937	0.9314	0.7857	0.7128	0.7926	0.6250	0.7757	0.5822	0.6640	0.7125	0.7072	0.7071	0.7062	0.7083	0.9240	0.7037	0.7022	0.9163	0.9131	0.9240	0.5044	0.7796	0.7155	0.8212	0.5761	0.8253	0.5682	0.7200	0.7494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	1809.03	69	chr9	22003368	.	G	A	1809.03	.	AC=6;AF=1.00;AN=6;DP=69;ExcessHet=0.0000;FS=0.000;MLEAC=16;MLEAF=1.00;MQ=60.00;QD=27.00;SOR=0.784	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	3	0	18
chr9	120453681	120453681	C	T	exonic	CDK5RAP2	.	synonymous SNV	CDK5RAP2:NM_001011649:exon21:c.G2568A:p.Q856Q	Microcephaly 3, primary, autosomal recessive, Autosomal recessive	.	0	1493	27	2	0	31	0.0102751	.	.	310815	Primary_Microcephaly,_Recessive|not_specified|not_provided	MedGen:CN239428|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.00139776	0.0015	0.0002	0.0021	0	0	0.0021	0.0055	0.0007	0.001423	220	154602	rs144723485	0.0011	0.0011	0.0011	0.0011	0.0076	0.0011	0.0010	0.0058	0.0052	0.0010	0.0023	0.0037	0	1.872e-05	0.0076	0.0010	0.0023	0.0005	0.0016	0.0016	0.0016	0.0016	0.0046	0.0014	0.0013	0.0037	0.0034	0.0006	0	0.0046	0.0014	0	0	0.0103	0.0017	0.0057	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	2515.98	35	chr9	120453681	.	C	T	2515.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.157e+00;DP=912;ExcessHet=0.0000;FS=3.043;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=-1.539e+00;SOR=0.699	GT:AD:DP:GQ:PL	0/1:110,105:215:99:2530,0,2895	20	0	1	0
chr9	132328623	132328623	T	C	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon10:c.A2975G:p.K992R	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	.	0	1485	35	2	0	39	0.0129611	.	.	253363	not_specified|not_provided|Hereditary_spastic_paraplegia|Spastic_paraplegia|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|Amyotrophic_lateral_sclerosis_type_4	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.102	B	0.027	B	0.000	N	1.000	N	0.695	N	-2.18	D	-0.622	T	0.326	T	0.03	0.709	7.780	0.239	-0.118	1.381	5.907	0.244	.	0.0117	0.00658946	0.0151	0.0027	0.0064	0	0.0493	0.0187	0.0198	0.0083	0.0145341	2247	154602	rs61742937	0.0145	0.0145	0.0143	0.0148	0.0150	0.0144	0.0143	0.0148	0.0147	0.0023	0.0082	0.0073	2.52e-05	0.0468	0.0130	0.0150	0.0133	0.0070	0.0141	0.0141	0.0135	0.0148	0.0175	0.0136	0.0134	0.0167	0.0163	0.0026	0.0186	0.0142	0.0043	0	0.0505	0.0204	0.0175	0.0170	0.0060	0.039	0.42487	D	0.081	0.41742	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.00162	N	7739.210000	1	0.08975	N	1.4	0.35362	L	-2.47	0.88997	D	-1.13	0.29114	N	0.03	0.00717	-0.6223	0.63893	T	0.326	0.69436	T	10	0.0022610426	0.00033	T	.	.	.	0.244	0.55061	.	.	.	.	0.23882982507508727	0.23796	0.0718533108424	0.08051	0.353411912918	0.18423	T	0.306023	0.67825	T	-0.470488	0.00844	T	-0.432343	0.29670	T	0.000944401584356875	0.00009	T	0.622038	0.23930	T	0.09425707	0.22157	0.09587687	0.22758	0.09425707	0.22157	0.09587687	0.22757	-4.521	0.31162	T	0.6388593543702014	0.70927	0.081	0.08272	B	.	.	1.533747	0.19678	14.38	0.97958509388067672	0.37158	0.55602	0.29905	D	AEFGBCI	0.076852	0.15470	N	-0.775182274156688	0.13959	0.6915422	-0.767738281659161	0.15287	0.8032317	0.999907973070562	0.45458	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	0.239	0.14746	1.084000	0.30439	0.167000	0.15474	0.665000	0.62972	0.685000	0.28485	0.010000	0.20010	0.179000	0.21265	0.0:0.1392:0.2616:0.5993	5.907	0.18248	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.07143	6687.68	45	chr9	132328623	.	T	C	6687.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.750;DP=1349;ExcessHet=0.3300;FS=0.521;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.709;SOR=0.601	GT:AD:DP:GQ:PL	0/1:72,81:153:99:2405,0,1986	18	0	3	0
chr9	137108471	137108471	C	T	exonic	MAN1B1	.	synonymous SNV	MAN1B1:NM_016219:exon13:c.C1980T:p.F660F,	Mental retardation, autosomal recessive 15, Autosomal recessive	.	0	1490	31	1	0	33	0.0109525	.	.	207673	not_provided|Rafiq_syndrome|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0013624,MedGen:C3280127,OMIM:614202,Orphanet:88616|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.783	T	0.211	T	.	1.395	10.60	-2.28	-0.257	0.050	12.205	0.133	.	0.0021	0.00139776	0.0023	9.619e-05	0.0006	0	0.0018	0.0024	0.0055	0.0059	0.0022768	352	154602	rs140496149	0.0020	0.0020	0.0018	0.0022	0.0062	0.0019	0.0019	0.0058	0.0056	0.0002	0.0006	0.0007	2.519e-05	0.0011	0.0057	0.0019	0.0019	0.0062	0.0017	0.0017	0.0017	0.0017	0.0083	0.0015	0.0014	0.0063	0.0056	0.0003	0	0.0003	0	0	0.0015	0	0.0027	0.0005	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2593.98	37	chr9	137108471	.	C	T	2593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.122;DP=908;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.82;ReadPosRankSum=0.982;SOR=0.719	GT:AD:DP:GQ:PL	0/1:67,97:164:99:2608,0,1630	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	1/1:0,13:13:39:366,39,0	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	1/1:0,36:36:99:1239,108,0	3	13	5	0
chr10	30313751	30313751	G	C	exonic	MTPAP	.	nonsynonymous SNV	MTPAP:NM_018109:exon9:c.C1607G:p.P536R,	.	.	0	1521	1	0	0	1	0.000328623	.	.	441370	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.004	B	0.003	B	0.000	N	1.000	N	0.69	N	2.29	T	-1.049	T	0.048	T	0.142	-0.406	2.102	-0.675	-0.135	0.436	2.898	0.016	0.00506863796388	0.0008	0.000998403	0.0005	0	0.0004	0.0001	0	0.0005	0	0.0015	0.0005757	89	154602	rs147174746	0.0007	0.0007	0.0007	0.0008	0.0012	0.0007	0.0007	0.0010	0.0009	0.0002	0.0005	0	0	1.872e-05	0.0005	0.0008	0.0007	0.0012	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0011	0.0009	9.633e-05	0	0.0002	0	0	0	0	0.0007	0	0.0021	0.568	0.06223	T	0.627	0.07267	T	0.0	0.02946	B	0.001	0.04355	B	0.000467	0.00613	N	3.300120	1	0.08975	N	0.345	0.11182	N	1.57	0.29342	T	-0.35	0.12847	N	0.042	0.01498	-1.0489	0.14705	T	0.048	0.20672	T	10	0.00920409	0.00208	T	0.005069	0.12846	T	0.016	0.02506	.	.	0.147330786459	0.14319	0.1641430465654035	0.16334	0.376681390486	0.39101	0.219526976347	0.01283	T	0.012506	0.10980	T	-0.587057	0.00175	T	-0.656577	0.08499	T	0.00102909735869616	0.00010	T	0.20068	0.02272	T	0.019569851	0.00490	0.03080993	0.01585	0.022019092	0.00837	0.025235422	0.00561	-3.741	0.19925	T	.	.	0.083	0.09385	B	.	.	0.238261	0.06189	2.637	0.23739125398025251	0.01017	0.35269	0.25262	N	AEFDBHCI	0.114884	0.22611	N	-1.26087571277802	0.04158	0.1871213	-1.26812393821415	0.04868	0.230662	0.00108436047993539	0.08206	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	-0.675	0.10793	0.477000	0.21906	0.592000	0.19832	-0.654000	0.04376	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4646:0.1068:0.308:0.1206	2.898	0.05348	830	0.39242	.	.	.	.	.	.	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	1173.98	33	chr10	30313751	.	G	C	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.040e-01;DP=812;ExcessHet=0.0000;FS=0.714;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=-1.229e+00;SOR=0.566	GT:AD:DP:GQ:PL	0/1:66,47:113:99:1188,0,1803	20	0	1	0
chr10	78009515	78009515	C	T	intronic	POLR3A	.	.	.	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal recessive	YES	0	1509	12	1	0	14	0.00461741	.	.	439194	POLR3A-related_disorder|POLR3A-related_neurological_disorders|not_provided|Spastic_ataxia|Pol_III-related_leukodystrophy|Neonatal_pseudo-hydrocephalic_progeroid_syndrome|Movement_disorder|Hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and-or_hypogonadotropic_hypogonadism|Leukoencephalopathy-ataxia-hypodontia-hypomyelination_syndrome|not_specified|Inborn_genetic_diseases	.|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600,Orphanet:316226|MedGen:C5679947,Orphanet:289494|MONDO:MONDO:0009910,MedGen:C0406586,OMIM:264090,Orphanet:3455|Human_Phenotype_Ontology:HP:0001294,Human_Phenotype_Ontology:HP:0100022,MONDO:MONDO:0005395,MedGen:C0026650|MONDO:MONDO:0013722,MedGen:C3280644,OMIM:614381,Orphanet:85186,Orphanet:88637|MONDO:MONDO:0011897,MedGen:C2676243,OMIM:607694,Orphanet:137639,Orphanet:447893,Orphanet:447896,Orphanet:77295,Orphanet:88637|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.000599042	0.0013	0.0004	0.0009	0	0.0006	0.0019	0.0022	0.0010	0.00152	235	154602	rs191875469	0.0025	0.0025	0.0026	0.0024	0.0030	0.0024	0.0024	0.0029	0.0029	0.0004	0.0013	0.0005	0	0.0003	0.0019	0.0030	0.0018	0.0008	0.0015	0.0015	0.0015	0.0016	0.0028	0.0014	0.0013	0.0024	0.0023	0.0006	0	0.0008	0.0009	0	0.0003	0	0.0028	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3301.98	35	chr10	78009515	.	C	T	3301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.114;DP=957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-1.495e+00;SOR=0.698	GT:AD:DP:GQ:PL	0/1:117,125:242:99:3316,0,3112	20	0	1	0
chr10	100990470	100990470	G	A	exonic	TWNK	.	nonsynonymous SNV	TWNK:NM_001163812:exon3:c.G1519A:p.V507I	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), Autosomal recessive;Perrault syndrome 5, Autosomal recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	171770	Perrault_syndrome_5|Perrault_syndrome|not_provided|not_specified	MONDO:MONDO:0014504,MedGen:C4015307,OMIM:616138,Orphanet:2855|MONDO:MONDO:0017312,MedGen:C0685838,OMIM:PS233400,Orphanet:2855|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.669	P	0.188	B	0.002	N	0.591	N	0.85	L	-0.15	T	0.016	D	0.584	D	0.102	2.733	15.10	4.84	1.580	2.980	8.397	0.724	0.172435434232	7.7e-05	0.000199681	8.237e-06	0	0	0	0	0	0	6.057e-05	1.29e-05	2	154602	rs369588002	1.163e-05	1.163e-05	9.529e-06	1.375e-05	0.0003	7.09e-06	5.79e-06	6.092e-05	2.521e-05	0	4.472e-05	0	0	0	0.0003	9.893e-06	1.656e-05	1.159e-05	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	7.293e-05	3.03e-05	0	0	6.533e-05	0	0	0	0	0	0	0.0004	0.132	0.26519	T	0.039	0.51112	D	0.637	0.41149	P	0.188	0.36237	B	0.002250	0.36929	N	0.228496	0.59072	0.32454	D	2.105	0.58435	M	-0.15	0.93928	T	-0.59	0.17624	N	0.696	0.70088	0.016	0.82582	D	0.584	0.85052	D	10	0.25000972	0.42321	T	0.172435	0.84942	D	0.724	0.90280	.	.	0.4147015802	0.41088	0.3335980080253733	0.33272	0.5939459802	0.54724	.	.	.	0.371019	0.73546	T	-0.144149	0.29231	T	-0.242182	0.50585	T	0.251246571540833	0.22929	T	0.835916	0.52772	T	0.044669088	0.07179	0.043727312	0.05505	0.03896705	0.05291	0.040032778	0.04233	-6.578	0.54202	T	0.18711358879173207	0.24383	0.103	0.21315	B	.;.;.;.	.;.;.;.	3.021580	0.40446	21.2	0.98448954120553589	0.41598	0.83159	0.42300	D	AEFDGBCI	0.180629	0.30793	N	-0.15082859053391	0.35199	2.018794	-0.0177452763239355	0.38914	2.299498	0.999996286478917	0.74766	0.67177	0.52595	0	0.581341	0.33841	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.73	4.84	0.62125	2.956000	0.48822	7.467000	0.59112	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.2279:0.0:0.7721:0.0	8.397	0.31725	552	0.72024	DNA helicase, DnaB-like, C-terminal;DNA helicase, DnaB-like, C-terminal;.;DNA helicase, DnaB-like, C-terminal	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1343.98	34	chr10	100990470	.	G	A	1343.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.520e-01;DP=825;ExcessHet=0.0000;FS=3.173;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=1.59;SOR=0.575	GT:AD:DP:GQ:PL	0/1:70,60:130:99:1358,0,1626	20	0	1	0
chr10	102401177	102401177	C	T	intronic	NFKB2	.	.	.	Immunodeficiency, common variable, 10, Autosomal dominant	.	426	1086	9	1	0	11	0.00503894	0.0004	0.036	460466	not_provided|NFKB2-related_disorder|Immunodeficiency,_common_variable,_10	MedGen:C3661900|.|MONDO:MONDO:0014260,MedGen:C3809991,OMIM:615577	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.000798722	0.0015	0.0003	0.0010	0	0	0.0023	0.0024	0.0008	0.0014812	229	154602	rs201550645	0.0016	0.0016	0.0015	0.0016	0.0064	0.0015	0.0015	0.0047	0.0042	0.0003	0.0017	0.0043	0	0.0001	0.0064	0.0017	0.0022	0.0006	0.0012	0.0012	0.0014	0.0010	0.0020	0.0011	0.0010	0.0015	0.0013	0.0004	0	0.0020	0.0037	0	0	0	0.0017	0.0033	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1726.98	39	chr10	102401177	.	C	T	1726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.208e+00;DP=996;ExcessHet=0.0000;FS=1.348;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=0.448;SOR=0.603	GT:AD:DP:GQ:PL	0/1:73,65:138:99:1741,0,2089	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	1/1:1,52:53:99:1382,132,0	1	15	5	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	.	21	72	439	990	0	2419	0.943816	.	.	326978	Type_1_diabetes_mellitus_2|Maturity-onset_diabetes_of_the_young_type_10|Diabetes_mellitus,_permanent_neonatal_4|Autosomal_recessive_DOPA_responsive_dystonia|Transient_Neonatal_Diabetes,_Dominant/Recessive|Hyperproinsulinemia|Diabetes_mellitus_type_1|Maturity_onset_diabetes_mellitus_in_young|not_provided	MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MedGen:CN239353|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	P	.	.	-4.58	D	-0.893	T	0.000	T	0.193	-0.854	0.541	-3.76	-2.608	0.411	2.503	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	78587.44	179	chr11	2159830	.	T	G	78587.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=0.199;DP=3573;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=22.65;ReadPosRankSum=0.179;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,183:183:99:.:.:5706,549,0	1	12	8	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	0/1:31,30:61:99:848,0,735	3	9	9	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	0/1:27,21:48:99:546,0,814	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	1/1:0,11:11:33:356,33,0	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	1/1:0,25:25:75:952,75,0	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	1/1:0,45:45:99:1645,135,0	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	1/1:0,76:76:99:2380,228,0	1	14	6	0
chr11	17428382	17428382	C	T	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon14:c.G1947A:p.K649K	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	1120	365	36	0	437	0.163242	.	.	167534	Diabetes_mellitus,_permanent_neonatal_3|Hereditary_hyperinsulinism|Permanent_neonatal_diabetes_mellitus|not_specified|Diabetes_mellitus,_transient_neonatal,_2|Type_2_diabetes_mellitus|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|not_provided	MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|.|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|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:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1567	0.202077	0.1785	0.1816	0.1202	0.1671	0.1980	0.1587	0.1689	0.2962	0.173064	26756	154602	rs1799858	0.1599	0.1599	0.1565	0.1632	0.2802	0.1593	0.1591	0.2773	0.2760	0.1811	0.1311	0.1863	0.1992	0.1981	0.1185	0.1471	0.1660	0.2802	0.1659	0.1663	0.1609	0.1712	0.2891	0.1642	0.1635	0.2764	0.2713	0.1777	0.1187	0.1581	0.1907	0.1991	0.1888	0.0918	0.1457	0.1552	0.2891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.1667	9910.53	34	chr11	17428382	.	C	T	9910.53	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-8.430e-01;DP=1163;ExcessHet=0.2785;FS=0.000;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=16.33;ReadPosRankSum=0.880;SOR=0.689	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1215,0,1460	15	1	5	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	0/1:84,76:160:99:1819,0,2004	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	1/1:0,229:229:99:6962,686,0	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	2/2:0,0,2:2:6:36,36,36,6,6,0	2	7	0	7
chr11	64755280	64755280	T	C	exonic	PYGM	.	nonsynonymous SNV	PYGM:NM_001164716:exon5:c.A584G:p.N195S	McArdle disease, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	177268	PYGM-related_disorder|not_provided|Glycogen_storage_disease,_type_V	.|MedGen:C3661900|MONDO:MONDO:0009293,MedGen:C0017924,OMIM:232600,Orphanet:368	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.985	D	0.857	P	0.000	D	1.000	D	2.43	M	-3.25	D	0.887	D	0.862	D	0.252	4.506	24.2	5.63	2.153	8.040	13.793	0.738	0.151652242425	0.0011	0.000798722	0.0017	0.0004	0.0002	0.0007	0.0006	0.0025	0.0022	0.0014	0.0015912	246	154602	rs114468011	0.0012	0.0012	0.0012	0.0013	0.0013	0.0012	0.0011	0.0013	0.0012	5.975e-05	0.0003	0.0026	0.0003	0.0007	0.0009	0.0013	0.0012	0.0012	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0006	0.0010	0.0009	0.0003	0	6.537e-05	0.0026	0.0004	0.0011	0	0.0012	0	0.0004	0.042	0.41637	D	0.039	0.51112	D	0.958	0.54977	D	0.742	0.55764	P	0.000003	0.62929	D	0.000000	1	0.81001	D	2.77	0.80896	M	-3.25	0.93587	D	-4.44	0.79743	D	0.816	0.83781	0.887	0.95496	D	0.862	0.95397	D	10	0.1810683	0.33321	T	0.151652	0.83317	D	0.738	0.90895	.	.	0.968106915538	0.96776	0.6664053383360012	0.66578	0.328560466209	0.34964	0.701920390129	0.67422	T	0.672794	0.90307	D	-0.183306	0.23245	T	-0.0419403	0.67570	D	0.0536412005091572	0.06129	T	0.988901	0.96238	D	0.71194464	0.78714	0.55584604	0.74310	0.7266655	0.79537	0.46833518	0.69160	-11.538	0.84626	D	0.2500335282928002	0.33844	0.216	0.44579	B	.;.	.;.	4.387589	0.67691	25.1	0.99851467039427733	0.93102	0.98281	0.81223	D	AEFDGBI	0.927676	0.91072	D	0.72632167137808	0.81359	7.503453	0.70695911163212	0.82910	7.884877	0.999999999999863	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	8.017000	0.88732	7.802000	0.69178	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:0.0:1.0	13.793	0.62642	385	0.83500	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1171.98	35	chr11	64755280	.	T	C	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.180e+00;DP=764;ExcessHet=0.0000;FS=7.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.42;ReadPosRankSum=-2.062e+00;SOR=0.204	GT:AD:DP:GQ:PL	0/1:31,45:76:99:1186,0,1016	20	0	1	0
chr11	85636171	85636171	G	T	exonic	TMEM126B	.	nonsynonymous SNV	TMEM126B:NM_001256547:exon4:c.G497T:p.G166V	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	YES	433	1088	1	0	0	1	0.000459348	.	.	237764	Mitochondrial_complex_I_deficiency|not_provided|Mitochondrial_complex_1_deficiency,_nuclear_type_29|Mitochondrial_disease	MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609|MedGen:C3661900|MONDO:MONDO:0032633,MedGen:C4748830,OMIM:618250|MONDO:MONDO:0044970,MeSH:D028361,MedGen:C0751651,Orphanet:68380	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.999	D	0.995	D	0.000	D	0.999	D	2.455	M	1.18	T	-0.654	T	0.205	T	0.908	3.126	16.45	4.1	2.793	2.341	10.979	0.309	0.0454394286743	0.0012	.	0.0013	0.0003	0.0003	0	0.0012	0.0021	0.0023	0.0001	0.0013195	204	154602	rs141542003	0.0015	0.0015	0.0015	0.0014	0.0018	0.0014	0.0014	0.0018	0.0017	0.0002	9.487e-05	0	0	0.0014	0.0002	0.0018	0.0009	4.73e-05	0.0010	0.0010	0.0011	0.0009	0.0018	0.0008	0.0008	0.0015	0.0014	0.0003	0	6.551e-05	0.0003	0	0.0010	0	0.0018	0	0	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000001	0.84330	D	0.129538	0.887367	0.46300	D	2.655	0.77738	M	1.18	0.37746	T	-6.17	0.90254	D	0.598	0.65587	-0.6540	0.62539	T	0.205	0.56293	T	9	0.17585585	0.32539	T	0.045439	0.61979	D	0.309	0.63055	.	.	0.333154297509	0.32921	0.6454818489090022	0.64483	0.290691010596	0.31478	0.378399193287	0.22029	T	0.04239	0.26168	T	-0.0886299	0.38302	T	0.106452	0.77337	D	0.0969241983163035	0.12014	T	0.763624	0.39028	T	0.5933246	0.72330	0.44750154	0.67827	0.6463832	0.75172	0.48253524	0.70038	-7.162	0.55208	T	0.5877603048417654	0.65455	0.665	0.74625	P	.;.	.;.	3.502374	0.49009	22.7	0.99381967749807854	0.61935	0.82175	0.41443	D	AEFBI	0.242474	0.36392	N	0.400734397124663	0.61464	4.347764	0.267421096847958	0.53645	3.532609	0.718534203549623	0.22903	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.08	4.1	0.47196	2.435000	0.44469	7.931000	0.75020	0.676000	0.76740	0.870000	0.30794	1.000000	0.68203	0.017000	0.10941	0.0:0.1884:0.8116:0.0	10.979	0.46700	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1013.98	38	chr11	85636171	.	G	T	1013.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.960e-01;DP=771;ExcessHet=0.0000;FS=1.973;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=-1.391e+00;SOR=0.529	GT:AD:DP:GQ:PL	0/1:30,43:73:99:1028,0,685	20	0	1	0
chr11	103479194	103479194	G	C	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001377:exon89:c.G12865C:p.G4289R	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	1	1467	52	2	0	56	0.0187291	.	.	323966	Jeune_thoracic_dystrophy|Asphyxiating_thoracic_dystrophy_3|not_specified	MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.44	T	1.0	D	0.988	D	0.000	D	1.000	D	1.775	L	3.16	T	-1.129	T	0.031	T	0.441	2.636	14.77	4.9	2.422	8.169	18.439	0.243	.	0.0116	0.00439297	0.0129	0.0026	0.0076	0	0.0174	0.0176	0.0178	0.0084	0.0124255	1921	154602	rs144717489	0.0137	0.0137	0.0137	0.0137	0.0144	0.0136	0.0135	0.0142	0.0141	0.0023	0.0080	0.0406	0	0.0176	0.0104	0.0144	0.0136	0.0086	0.0108	0.0108	0.0110	0.0107	0.0156	0.0104	0.0102	0.0148	0.0145	0.0024	0.0044	0.0077	0.0381	0	0.0161	0.0034	0.0156	0.0147	0.0066	0.145	0.91255	T	0.637	0.65728	T	0.047	0.90584	B	0.206	0.77976	B	0.000000	0.84330	D	0.000000	0.999981	0.54805	D	2.145	0.60081	M	3.16	0.07711	T	-3.22	0.85921	D	0.619	0.63459	-1.1287	0.01845	T	0.031	0.13418	T	10	0.0082240105	0.00187	T	.	.	.	0.243	0.54921	0.462	0.53079	.	.	0.6498519489855884	0.64921	0.0936142309155	0.10573	0.61986374855	0.55710	T	0.262445	0.63401	T	-0.393954	0.02536	T	-0.325039	0.42019	T	0.0479594081768129	0.05137	T	0.920908	0.71352	D	0.5573398	0.70362	0.43036193	0.66688	0.42922077	0.62702	0.43036193	0.66688	-3.272	0.13378	T	0.5205841401870548	0.59291	0.139	0.35498	B	.;.;.;.;.;.	.;.;.;.;.;.	4.171308	0.62719	24.5	0.97673968314808302	0.35270	0.99508	0.96874	D	AEFDHI	0.922251	0.89695	D	0.28521725562387	0.55399	3.703953	0.365053944125011	0.59419	4.119602	0.99994404599419	0.47345	0.743674	0.98306	0	0.573888	0.26702	0	0.630245	0.45026	0	0.421255	0.06892	1	.	.	4.9	4.9	0.63643	8.250000	0.89774	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.0:0.0:1.0:0.0	18.439	0.90603	860	0.33753	Dynein heavy chain domain;.;Dynein heavy chain domain;.;.;Dynein heavy chain 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	1490.98	33	chr11	103479194	.	G	C	1490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.046;DP=796;ExcessHet=0.0000;FS=1.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-8.600e-02;SOR=0.855	GT:AD:DP:GQ:PL	0/1:53,60:113:99:1505,0,1274	20	0	1	0
chr11	119206289	119206289	-	CGG	upstream	CBL	dist=50	.	.	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, Autosomal dominant	.	193	969	26	9	325	369	0.0221998	.	.	324725	Noonan-like_syndrome|Noonan_syndrome_and_Noonan-related_syndrome|not_provided	MedGen:C1834120|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007891	122	154602	rs758396206	0.0749	0.0727	0.0743	0.0754	0.1098	0.0742	0.0739	0.0971	0.0922	0.0454	0.0527	0.1000	0.0298	0.1014	0.1098	0.0775	0.0852	0.0505	0.0822	0.0830	0.0831	0.0812	0.1017	0.0810	0.0805	0.0997	0.0989	0.0514	0.1291	0.0726	0.1182	0.0423	0.1004	0.1586	0.1017	0.0955	0.0619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	1356.41	8	chr11	119206289	.	C	CCGGTGG,CCGGTGGCGGCGGCGGCGGCGGCGGCGG,CCGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGG,CCGGTGGCGG,CCGG	1356.41	.	AC=2,3,1,2,2;AF=0.056,0.083,0.028,0.056,0.056;AN=36;BaseQRankSum=-6.910e-01;DP=244;ExcessHet=0.0120;FS=4.773;InbreedingCoeff=0.3283;MLEAC=2,3,1,2,1;MLEAF=0.056,0.083,0.028,0.056,0.028;MQ=60.00;MQRankSum=0.00;QD=24.66;ReadPosRankSum=0.281;SOR=0.268	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:3,0,5,0,0,0:8:99:0|1:119206289_C_CCGGTGGCGGCGGCGGCGGCGGCGGCGG:157,167,295,0,127,112,167,295,127,295,167,295,127,295,295,167,295,127,295,295,295:119206289	11	1	0	3
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	0/1:37,19:56:99:313,0,1045	6	0	15	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	1/1:0,22:22:86:1031,86,0	8	11	2	0
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	.	15	41	80	27	63	197	0.62037	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	10774.66	67	chr12	21174718	.	T	TA,TAA	10774.66	.	AC=17,5;AF=0.405,0.119;AN=42;BaseQRankSum=0.119;DP=1378;ExcessHet=1.0911;FS=0.590;InbreedingCoeff=0.0503;MLEAC=17,5;MLEAF=0.405,0.119;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=0.054;SOR=0.635	GT:AD:DP:GQ:PL	0/1:34,25,9:68:99:510,0,643,326,614,1379	5	2	9	0
chr12	21910318	21910319	AA	-	intronic	ABCC9	.	.	.	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	33	79	73	18	23	132	0.40824	.	.	330174	Dilated_Cardiomyopathy,_Dominant|not_specified|Hypertrichotic_osteochondrodysplasia_Cantu_type|Familial_atrial_fibrillation|not_provided	MedGen:CN239310|MedGen:CN169374|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0344	0.0213	0.0444	0.0182	0.0207	0.0378	0.0459	0.0332	0.0003458	9	26028	rs778815116	0.0264	0.0488	0.0268	0.0261	0.0448	0.0262	0.0261	0.0428	0.0420	0.0156	0.0448	0.0171	0.0118	0.0348	0.0075	0.0268	0.0248	0.0261	0.0006	0.0012	0.0006	0.0007	0.0010	0.0005	0.0005	0.0004	0.0003	0.0006	0	0.0006	0	0.0010	0.0026	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2716.27	42	chr12	21910317	.	CAA	CA,C	2716.27	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=0.301;DP=958;ExcessHet=21.3848;FS=0.000;InbreedingCoeff=-0.5954;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=4.38;ReadPosRankSum=0.401;SOR=0.677	GT:AD:DP:GQ:PL	0/1:41,9,0:50:23:23,0,925,146,951,1097	3	0	16	0
chr12	39332911	39332911	G	A	exonic	KIF21A	.	nonsynonymous SNV	KIF21A:NM_001173465:exon17:c.C2576T:p.P859L	Fibrosis of extraocular muscles, congenital, 1, Autosomal dominant;Fibrosis of extraocular muscles, congenital, 3B, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	738626	KIF21A-related_disorder|Inborn_genetic_diseases|not_provided|Congenital_fibrosis_of_extraocular_muscles_type_1	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.67	T	0.036	B	0.018	B	0.538	N	1.000	N	1.59	L	-0.32	T	-0.950	T	0.163	T	0.29	0.051	4.278	3.44	1.379	3.191	13.447	0.039	0.0301327822504	0.0007	0.00119808	0.0008	0.0009	0	0	0	0.0004	0.0011	0.0041	0.0007244	112	154602	rs149718388	0.0005	0.0005	0.0004	0.0006	0.0038	0.0005	0.0005	0.0035	0.0033	0.0009	0	3.826e-05	2.519e-05	5.616e-05	0.0002	0.0003	0.0006	0.0038	0.0005	0.0005	0.0005	0.0006	0.0044	0.0004	0.0004	0.0029	0.0025	0.0006	0	6.549e-05	0	0.0002	0	0	0.0004	0	0.0044	0.03	0.46513	D	0.515	0.22962	T	0.029	0.20732	B	0.014	0.18489	B	0.538351	0.11563	N	0.749870	1	0.08975	N	0.695	0.17993	N	-0.41	0.69536	T	-3.05	0.64826	D	0.127	0.19995	-0.9502	0.40938	T	0.163	0.49897	T	10	0.008099318	0.00184	T	0.030133	0.52511	D	0.096	0.27654	.	.	0.704881100643	0.70231	0.1717208336995281	0.17092	0.269153642095	0.29430	0.382805287838	0.22654	T	0.037349	0.35863	T	-0.411157	0.01953	T	-0.363519	0.37645	T	0.0293848799807004	0.01895	T	0.743826	0.36376	T	0.040857863	0.05909	0.053731184	0.09108	0.044193167	0.07020	0.052044023	0.08496	-4.386	0.31006	T	0.1496355037924399	0.17513	0.075	0.05711	B	.;.;.;.;.	.;.;.;.;.	2.520475	0.32570	19.08	0.78372640523614312	0.12273	0.50027	0.28568	D	ALL	0.173995	0.30110	N	-0.371508637988561	0.26490	1.446065	-0.438988941593598	0.23863	1.303571	0.996927906509899	0.35121	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.635551	0.53088	0	.	.	5.58	3.44	0.38486	3.516000	0.53194	6.409000	0.55591	-0.103000	0.15852	0.790000	0.29595	0.997000	0.33255	0.003000	0.05239	0.149:0.0:0.851:0.0	13.447	0.60597	811	0.42639	.;.;.;.;.	.	.	.	.	.	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	731.98	34	chr12	39332911	.	G	A	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=781;ExcessHet=0.0000;FS=2.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=0.962;SOR=0.346	GT:AD:DP:GQ:PL	0/1:32,26:58:99:746,0,893	20	0	1	0
chr12	64094951	64094951	C	T	exonic	SRGAP1	.	nonsynonymous SNV	SRGAP1:NM_001346201:exon13:c.C1490T:p.P497L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.004	U	1.000	D	4.66	H	-1.67	D	1.041	D	0.862	D	0.965	4.754	26.6	5.05	2.506	7.731	18.778	0.871	0.477149508009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321506999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.569e-06	0	1.346e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.003518	0.34847	U	0.000000	1	0.81001	D	5.245	0.99966	H	-1.67	0.82806	D	-8.91	0.97942	D	0.994	0.99899	1.041	0.97931	D	0.862	0.95394	D	9	0.9766516	0.97462	D	0.47715	0.94780	D	0.871	0.96133	0.818	0.93195	0.917048781376	0.91621	0.9220230046232393	0.92179	0.853553387311	0.68658	0.808189690113	0.83214	D	0.658826	0.89736	D	0.445754	0.92290	D	0.402518	0.92194	D	0.999464809894562	0.97510	D	0.983302	0.94339	D	0.581759	0.71704	0.55074006	0.74023	0.581759	0.71705	0.55074006	0.74024	-10.144	0.74769	D	.	.	0.971	0.89526	P	.;.;.	.;.;.	5.271034	0.88506	29.6	0.99810721164317762	0.89442	0.99127	0.91622	D	AEFBI	0.884659	0.81453	D	0.985702751092392	0.95289	13.47936	0.859280216376727	0.93545	12.11502	1.0	0.98316	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	7.842000	0.85116	7.707000	0.66598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.778	0.91883	917	0.20147	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	122.14	41	chr12	64094951	.	C	T	122.14	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.450e+00;DP=926;ExcessHet=1.7912;FS=99.434;InbreedingCoeff=-0.1390;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=-6.800e-02;SOR=9.736	GT:AD:DP:GQ:PL	0/1:39,13:52:6:6,0,722	15	0	6	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	1/1:0,131:131:99:4251,392,0	4	9	8	0
chr12	120978847	120978847	A	C	exonic	HNF1A	.	nonsynonymous SNV	HNF1A:NM_000545:exon1:c.A79C:p.I27L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	YES	0	433	725	364	0	1453	0.626563	.	.	29976	Maturity_onset_diabetes_mellitus_in_young|Insulin_resistance,_susceptibility_to|not_specified|SERUM_HDL_CHOLESTEROL_LEVEL,_MODIFIER_OF|not_provided|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|Type_2_diabetes_mellitus	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C1852091|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.025	B	0.047	B	0.001	D	0.000	P	1.445	L	-4.99	D	-1.199	T	0.000	T	0.491	2.485	14.27	4.45	1.637	3.135	12.900	0.471	.	0.2625	0.298522	0.3533	0.1240	0.3657	0.4181	0.4013	0.3526	0.4043	0.4245	0.337234	52137	154602	rs1169288	0.3335	0.3336	0.3293	0.3377	0.4891	0.3327	0.3324	0.4740	0.4679	0.1157	0.3665	0.4685	0.4637	0.3871	0.4891	0.3203	0.3413	0.4211	0.2886	0.2888	0.2795	0.2980	0.4159	0.2863	0.2854	0.4007	0.3946	0.1246	0.3998	0.3441	0.4579	0.4113	0.4038	0.5136	0.3279	0.3172	0.4159	0.082	0.33254	T	0.088	0.41074	T	0.02	0.18235	B	0.013	0.16460	B	0.000599	0.43095	D	0.102545	0.00427281	0.58761	P	.	.	.	-4.99	0.98507	D	-0.92	0.26422	N	0.244	0.59478	-1.1988	0.00159	T	0.000	0.00011	T	9	0.0011825562	0.00013	T	.	.	.	0.471	0.76487	.	.	.	.	0.639855555068673	0.63920	0.661091555139	0.58901	0.671702623367	0.63080	T	0.616759	0.87931	D	-0.242214	0.15067	T	0.0231193	0.71833	D	0.0200591795459442	0.00707	T	0.545645	0.21248	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.29724	B	.;.;.;.;.;.	.;.;.;.;.;.	2.848995	0.37605	20.5	0.97610260144253136	0.34904	0.91018	0.52700	D	AEFDBHCI	0.874006	0.79666	D	-0.165784519999115	0.34565	1.974477	-0.019193184638099	0.38849	2.294743	0.999999999782079	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	3.208000	0.50816	6.975000	0.57104	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	12.900	0.57511	371	0.84287	Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal	SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|UNC119B|SPPL3|SPPL3|SPPL3|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43|ACADS|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood	.	.	rs1169288	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.5238	33561.51	89	chr12	120978847	.	A	C	33561.51	.	AC=22;AF=0.524;AN=42;BaseQRankSum=1.54;DP=1997;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=19.34;ReadPosRankSum=-1.670e-01;SOR=0.717	GT:AD:DP:GQ:PL	1/1:0,116:116:99:3948,347,0	5	6	10	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	.	1	363	726	432	0	1590	0.686528	0	0.002	134677	not_provided|Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	P	.	.	.	.	-1.027	T	0.000	T	.	-0.974	0.301	-8.98	-3.672	-0.240	13.207	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	52313.0	129	chr12	120997672	.	G	A	52313.0	.	AC=23;AF=0.548;AN=42;BaseQRankSum=1.17;DP=2905;ExcessHet=2.1081;FS=0.567;InbreedingCoeff=-0.0572;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=19.48;ReadPosRankSum=0.674;SOR=0.641	GT:AD:DP:GQ:PL	1/1:0,170:170:99:5335,510,0	4	6	11	0
chr12	132730335	132730397	CCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	-	intronic	ANKLE2	.	.	.	.	.	439	456	411	216	0	843	0.480342	.	.	791214	Microcephaly_16,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0014730,MedGen:C4225249,OMIM:616681,Orphanet:2512|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	0.3599	0.3308	0.3572	0.3627	0.3949	0.3590	0.3586	0.3800	0.3740	0.2624	0.3523	0.4405	0.1661	0.4326	0.3949	0.3654	0.3676	0.3689	0.4049	0.4061	0.4063	0.4035	0.4607	0.4022	0.4011	0.4564	0.4546	0.3189	0.5621	0.3897	0.4957	0.1763	0.4643	0.4558	0.4607	0.4041	0.4202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	15991.24	33	chr12	132730334	.	CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	C	15991.24	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.33;DP=861;ExcessHet=0.0204;FS=5.516;InbreedingCoeff=0.4273;MLEAC=20;MLEAF=0.476;MQ=59.96;MQRankSum=0.00;QD=32.77;ReadPosRankSum=0.809;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,29:29:91:.:.:1313,91,0	8	7	6	0
chr13	23320614	23320615	TG	-	intronic	SGCG	.	.	.	Muscular dystrophy, limb-girdle, type 2C, Autosomal recessive	.	188	423	406	438	67	1349	0.602444	.	.	408805	not_specified|not_provided	MedGen:CN169374|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	.	0.1291	0.0400	0.1078	0.0906	0.0515	0.1427	0.1633	0.1427	0.0002305	6	26028	rs1064794531	0.0330	0.0494	0.0331	0.0329	0.0489	0.0327	0.0326	0.0468	0.0460	0.0087	0.0363	0.0553	0.0489	0.0201	0.0322	0.0331	0.0334	0.0349	0.0006	0.0009	0.0006	0.0007	0.0010	0.0005	0.0005	0.0006	0.0005	0.0001	0	0.0010	0	0.0006	0.0014	0	0.0008	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	14729.47	28	chr13	23320613	.	TTG	GTG,*,T	14729.47	.	AC=16,3,7;AF=0.381,0.071,0.167;AN=42;BaseQRankSum=0.146;DP=715;ExcessHet=4.5793;FS=0.638;InbreedingCoeff=-0.2554;MLEAC=16,2,8;MLEAF=0.381,0.048,0.190;MQ=60.00;MQRankSum=0.00;QD=25.66;ReadPosRankSum=-7.800e-02;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,29,0,0:34:99:0|1:23320605_T_G:1203,0,123,1218,210,1428,1218,210,1428,1428:23320605	2	3	7	0
chr13	23355239	23355239	G	A	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon6:c.C932T:p.T311I	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	YES	0	1509	13	0	0	13	0.00428901	.	.	266622	not_specified|not_provided|Hereditary_spastic_paraplegia|Spastic_paraplegia|SACS-related_disorder|Charlevoix-Saguenay_spastic_ataxia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|.|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	2.56	M	2.17	T	-0.853	T	0.174	T	0.993	3.394	17.45	5.72	2.857	9.798	20.241	0.546	0.100253231566	0.0024	0.000798722	0.0025	0.0005	0.0010	0	0.0005	0.0042	0.0011	0.0004	0.0023609	365	154602	rs61729954	0.0021	0.0021	0.0021	0.0022	0.0101	0.0021	0.0020	0.0080	0.0072	0.0004	0.0019	0.0222	5.038e-05	0.0004	0.0101	0.0019	0.0037	0.0007	0.0021	0.0021	0.0024	0.0019	0.0027	0.0020	0.0019	0.0023	0.0022	0.0003	0	0.0027	0.0199	0	0.0011	0.0102	0.0027	0.0047	0	0.0	0.91255	D	0.0	0.92824	D	0.988	0.62325	D	0.963	0.70837	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	3.195	0.89043	M	2.17	0.19020	T	-3.44	0.67477	D	0.975	0.98563	-0.8532	0.51746	T	0.174	0.51722	T	10	0.009782344	0.00220	T	0.100253	0.77242	D	0.546	0.81135	.	.	0.619226046999	0.61614	0.9100570222732436	0.90979	.	.	0.656941413879	0.60972	T	0.644944	0.89155	D	-0.0457148	0.45097	T	0.157254	0.80638	D	0.0686978647633756	0.08468	T	0.927907	0.73422	D	0.596426	0.72498	0.5639624	0.74766	0.60294896	0.72850	0.54210186	0.73535	-9.713	0.72176	D	0.6874368651722385	0.76469	0.901	0.84294	P	.;.;.	.;.;.	4.070486	0.60473	24.2	0.99751892430377787	0.84305	0.98167	0.80181	D	AEFBCI	0.865809	0.78504	D	0.708044794657615	0.80161	7.233117	0.593632970121347	0.74479	6.144526	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	9.902000	0.98627	11.863000	0.98373	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.320000	0.24970	0.0:0.0:1.0:0.0	20.241	0.98374	986	0.02773	.;.;.	.	.	.	.	.	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	2225.98	33	chr13	23355239	.	G	A	2225.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.490e+00;DP=1100;ExcessHet=0.0000;FS=0.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-1.290e+00;SOR=0.719	GT:AD:DP:GQ:PL	0/1:79,82:161:99:2240,0,2231	20	0	1	0
chr13	24892884	24892885	AC	-	intronic	CENPJ	.	.	.	Microcephaly 6, primary, autosomal recessive, Autosomal recessive	.	141	1131	185	50	15	300	0.111896	.	.	334164	Seckel_syndrome|not_provided|Primary_Microcephaly,_Recessive	MONDO:MONDO:0019342,MedGen:C0265202,OMIM:PS210600,Orphanet:808|MedGen:C3661900|MedGen:CN239428	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1854	.	0.0168	0.0165	0.0150	0.0025	0.0166	0.0220	0.0247	0.0112	0.0004226	11	26028	rs1491571085	0.0158	0.0295	0.0161	0.0155	0.0177	0.0156	0.0155	0.0174	0.0173	0.0173	0.0081	0.0224	0.0004	0.0122	0.0118	0.0177	0.0141	0.0102	0.0114	0.0124	0.0112	0.0116	0.0230	0.0108	0.0106	0.0216	0.0211	0.0230	0	0.0089	0.0215	0.0004	0.0015	0.0049	0.0036	0.0119	0.0107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	244.0	30	chr13	24892883	.	AAC	*,A	244.0	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=1.37;DP=693;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3549;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=0.76;ReadPosRankSum=-8.970e-01;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,17,0:38:99:.:.:641,0,788,704,840,1544	10	0	10	0
chr13	36335756	36335756	T	C	exonic	SPART	.	synonymous SNV	SPART:NM_001142294:exon2:c.A75G:p.L25L	.	.	0	1503	18	1	0	20	0.00660939	.	.	213102	not_specified|Hereditary_spastic_paraplegia|Troyer_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0010156,MedGen:C0393559,OMIM:275900,Orphanet:101000|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.000798722	0.0014	0.0004	0.0007	0	0	0.0022	0.0022	0.0004	0.0013066	202	154602	rs148399669	0.0012	0.0012	0.0012	0.0012	0.0246	0.0012	0.0011	0.0213	0.0201	0.0010	0.0005	0.0209	0	3.749e-05	0.0246	0.0007	0.0027	0.0002	0.0012	0.0012	0.0012	0.0012	0.0009	0.0010	0.0010	0.0007	0.0007	0.0002	0	0.0005	0.0233	0	0	0.0204	0.0009	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2985.11	33	chr13	36335756	.	T	C	2985.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.26;DP=907;ExcessHet=0.1072;FS=1.663;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=1.74;SOR=0.572	GT:AD:DP:GQ:PL	0/1:56,55:111:99:1507,0,1471	19	0	2	0
chr14	74505149	74505149	C	T	exonic	LTBP2	.	synonymous SNV	LTBP2:NM_000428:exon29:c.G4203A:p.T1401T,	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	.	0	1483	38	1	0	40	0.0133067	.	.	339072	Weill-Marchesani_syndrome|LTBP2-related_disorder|not_provided|Glaucoma_3,_primary_congenital,_D	MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|.|MedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00139776	0.0038	0.0008	0.0013	0	0.0056	0.0054	0.0091	0.0019	0.0035899	555	154602	rs150977380	0.0037	0.0037	0.0037	0.0036	0.0140	0.0036	0.0035	0.0116	0.0107	0.0013	0.0013	0.0235	0	0.0062	0.0140	0.0034	0.0049	0.0021	0.0030	0.0030	0.0030	0.0030	0.0040	0.0028	0.0027	0.0036	0.0034	0.0005	0	0.0010	0.0216	0	0.0054	0.0136	0.0040	0.0043	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5193.68	35	chr14	74505149	.	C	T	5193.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.70;DP=1044;ExcessHet=0.3300;FS=2.631;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=-2.800e-02;SOR=0.570	GT:AD:DP:GQ:PL	0/1:55,69:124:99:1811,0,1278	18	0	3	0
chr15	42840406	42840406	C	G	exonic	TTBK2	.	nonsynonymous SNV	TTBK2:NM_173500:exon4:c.G245C:p.G82A,	Spinocerebellar ataxia 11, Autosomal dominant	.	2	1514	6	0	0	6	0.00197759	.	.	441741	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.902	P	0.902	P	0.000	D	1.000	D	0.75	N	1.93	T	-1.019	T	0.107	T	0.889	3.021	16.08	5.31	2.648	6.988	18.935	0.420	0.14805088156	0.0003	0.000399361	0.0003	0	0	0	0	0.0005	0	0.0002	0.0002523	39	154602	rs200821440	0.0003	0.0003	0.0003	0.0003	0.0045	0.0002	0.0002	0.0032	0.0027	0.0006	0.0001	0	0	0	0.0045	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0003	0.0002	0	0.0001	0	0	0	0.0102	0.0004	0.0009	0.0002	0.036	0.43393	D	0.04	0.59732	D	0.597	0.49745	P	0.678	0.64047	P	0.000000	0.84330	D	0.044251	1	0.81001	D	0.505	0.13445	N	1.93	0.22881	T	-5.71	0.89401	D	0.93	0.94196	-1.0190	0.24041	T	0.107	0.38955	T	10	0.42749122	0.57271	T	0.148051	0.83001	D	0.420	0.72930	.	.	0.476521225925	0.47281	0.7631474613662579	0.76262	0.903865718972	0.70756	0.779498100281	0.78851	T	0.354751	0.72186	T	-0.192418	0.21904	T	-0.155591	0.58746	T	0.26270267367363	0.23432	T	0.980302	0.94694	D	0.87693137	0.89417	0.81012625	0.88908	0.9195968	0.93209	0.79001737	0.87647	-9.112	0.68414	D	.	.	0.864	0.80551	P	.;.;.;.;.	.;.;.;.;.	4.838636	0.78981	27.0	0.95334170494985193	0.26697	0.97518	0.75271	D	AEFBI	0.883216	0.81195	D	0.472593576090897	0.65496	4.829807	0.560772000652274	0.72148	5.764658	0.999999037759939	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.31	5.31	0.75063	7.211000	0.77438	7.578000	0.60885	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.935	0.92554	99	0.95913	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.04762	1582.11	39	chr15	42840406	.	C	G	1582.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.03;DP=866;ExcessHet=0.1072;FS=1.913;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=-3.840e-01;SOR=0.554	GT:AD:DP:GQ:PL	0/1:69,37:106:99:838,0,1648	19	0	2	0
chr15	45110705	45110705	G	A	exonic	DUOX2	.	synonymous SNV	DUOX2:NM_001363711:exon8:c.C888T:p.I296I	Thyroid dyshormonogenesis 6, Autosomal recessive	.	5	1497	19	1	0	21	0.00696517	.	.	726101	not_provided|Thyroid_dyshormonogenesis_6	MedGen:C3661900|MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0081869	0.0041	0	0.0004	0	0	0.0007	0.0022	0.0271	0.0036416	563	154602	rs144183694	0.0026	0.0026	0.0020	0.0033	0.0268	0.0026	0.0025	0.0259	0.0255	0.0002	0.0002	0	2.519e-05	0.0001	0.0039	0.0012	0.0025	0.0268	0.0015	0.0015	0.0012	0.0018	0.0261	0.0013	0.0013	0.0224	0.0210	0.0002	0	0.0001	0	0	9.422e-05	0	0.0014	0.0005	0.0261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1689.98	35	chr15	45110705	.	G	A	1689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=825;ExcessHet=0.0000;FS=0.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=1.68;QD=16.57;ReadPosRankSum=-1.237e+00;SOR=0.819	GT:AD:DP:GQ:PL	0/1:43,59:102:99:1704,0,1074	20	0	1	0
chr15	59256276	59256276	C	T	intronic	MYO1E	.	.	.	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	.	26	0	7	1489	0	2985	1	0	0	971023	not_specified|not_provided|Focal_segmental_glomerulosclerosis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9775	0.97504	0.9939	0.9331	0.9973	1	1	0.9998	0.9967	0.9999	0.950408	146935	154602	rs4508371	0.9981	0.9980	0.9978	0.9983	1.0000	0.9967	0.9961	0.9983	0.9976	0.9313	0.9973	1.0000	1.0000	1.0000	0.9970	0.9999	0.9960	0.9999	0.9812	0.9812	0.9812	0.9813	1.0000	0.9771	0.9753	0.9934	0.9908	0.9344	1.0000	0.9945	1.0000	1.0000	1.0000	0.9864	0.9997	0.9887	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1/1:0,115:115:99:3484,345,0	0	21	0	0
chr15	68207980	68207983	ACAC	-	UTR3	CLN6	NM_017882:c.*160_*157delGTGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	205	10	0	6	5	17	0.375	.	.	341232	Neuronal_Ceroid-Lipofuscinosis,_Recessive|not_provided	MedGen:CN239323|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs141886537	0.4732	0.4569	0.4793	0.4678	0.5300	0.4716	0.4709	0.5278	0.5268	0.3809	0.4432	0.4817	0.1587	0.4999	0.4595	0.5300	0.4818	0.3368	0.4804	0.4792	0.4870	0.4734	0.5565	0.4774	0.4762	0.5518	0.5498	0.3924	0.4592	0.4948	0.4910	0.1749	0.5171	0.5274	0.5565	0.4919	0.3444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7778	4747.06	3	chr15	68207979	.	GACAC	G,GACACAC	4747.06	.	AC=14,18;AF=0.389,0.500;AN=36;BaseQRankSum=-4.310e-01;DP=175;ExcessHet=0.8031;FS=1.245;InbreedingCoeff=0.1441;MLEAC=15,20;MLEAF=0.417,0.556;MQ=60.00;MQRankSum=0.00;QD=33.91;ReadPosRankSum=-5.450e-01;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,5,0:5:15:.:.:220,15,0,220,15,220	0	4	2	3
chr15	82538982	82538982	A	G	exonic	RPS17	.	synonymous SNV	RPS17:NM_001021:exon3:c.T159C:p.Y53Y,	Diamond-Blackfan anemia 4, Autosomal dominant	YES	21	707	596	198	0	992	0.412303	.	.	409353	Diamond-Blackfan_anemia|not_specified	Human_Phenotype_Ontology:HP:0004810,Human_Phenotype_Ontology:HP:0005545,MONDO:MONDO:0015253,MeSH:D029503,MedGen:C1260899,OMIM:PS105650,Orphanet:124|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs6991	0.3098	0.3099	0.3048	0.3149	0.4205	0.3091	0.3088	0.4169	0.4154	0.1579	0.1629	0.3116	0.2790	0.3769	0.3362	0.3093	0.3116	0.4205	0.2641	0.2643	0.2614	0.2669	0.4165	0.2619	0.2610	0.4013	0.3951	0.1651	0.3936	0.2043	0.2966	0.2364	0.3693	0.3605	0.3087	0.2768	0.4165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	1	0.2619	14224.26	122	chr15	82538982	.	A	G	14224.26	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-7.740e-01;DP=1552;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1378;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-2.400e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/1:69,44:113:99:931,0,1752	12	2	7	0
chr16	2064405	2064405	G	C	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon12:c.G977C:p.S326T	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	203117	Hereditary_cancer-predisposing_syndrome|not_provided|not_specified|Tuberous_sclerosis_2|Lymphangiomyomatosis|Isolated_focal_cortical_dysplasia_type_II	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orphanet:538|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.42	T	0.975	D	0.937	D	0.000	D	1.000	D	1.95	M	-0.27	T	-0.394	T	0.403	T	0.706	3.317	17.15	4.61	1.340	7.903	14.722	0.267	0.0448054287781	.	.	6.617e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs376573446	5.132e-05	5.13e-05	4.902e-05	5.365e-05	6.385e-05	4.193e-05	3.825e-05	5.161e-05	4.738e-05	2.987e-05	2.236e-05	0	0	0	0	6.385e-05	3.312e-05	0	0.0002	0.0002	0.0002	0.0002	8.818e-05	0.0001	0.0001	3.761e-05	2.575e-05	0	0.0263	0	0	0	0	0	8.818e-05	0	0	0.113	0.34095	T	0.012	0.64786	D	0.975	0.58077	D	0.937	0.67262	D	0.000000	0.84330	D	0.040721	0.999999	0.58761	D	2.08	0.57402	M	-0.27	0.67367	T	-1.74	0.41239	N	0.651	0.69125	-0.3944	0.72203	T	0.403	0.75345	T	10	0.016540289	0.00349	T	0.044805	0.61671	D	0.267	0.58126	0.438	0.49157	0.722460117132	0.72001	0.18335749553136818	0.18254	.	.	0.744692802429	0.73663	T	0.54104	0.84286	D	-0.00646759	0.50759	T	-0.0317317	0.68253	D	0.193655942369766	0.20057	T	0.831017	0.49766	T	0.437874	0.63264	0.19635601	0.43361	0.437874	0.63265	0.19635601	0.43360	-8.33	0.64449	D	0.3425110431151143	0.44018	0.168	0.43517	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.201872	0.63414	24.6	0.9772580313511543	0.35585	0.99141	0.91831	D	AEFBI	0.921459	0.89498	D	0.161171440323222	0.49343	3.135702	0.266771423985663	0.53608	3.529057	0.999986085489541	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.57	4.61	0.56724	8.073000	0.89297	8.569000	0.77598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.07:0.0:0.93:0.0	14.722	0.68932	735	0.53711	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	2259.98	34	chr16	2064405	.	G	C	2259.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.053e+00;DP=889;ExcessHet=0.0000;FS=1.086;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.492;SOR=0.777	GT:AD:DP:GQ:PL	0/1:109,92:201:99:2274,0,2961	20	0	1	0
chr16	3781229	3781229	G	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon6:c.C1537A:p.L513I	Rubinstein-Taybi syndrome 1, Autosomal dominant	YES	1	1445	71	5	0	81	0.0272635	.	.	100926	Inborn_genetic_diseases|not_specified|Rubinstein-Taybi_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.604	P	0.369	B	0.000	D	1.000	D	1.28	L	-1.75	D	-0.226	T	0.400	T	0.54	2.237	13.44	5.49	2.578	5.707	19.361	0.382	.	0.0087	0.00638978	0.0100	0.0019	0.0047	0.0178	0.0021	0.0117	0.0188	0.0106	0.009366	1448	154602	rs61753381	0.0099	0.0100	0.0097	0.0102	0.0370	0.0098	0.0098	0.0329	0.0313	0.0019	0.0055	0.0583	0.0236	0.0019	0.0370	0.0087	0.0137	0.0113	0.0076	0.0076	0.0077	0.0076	0.0129	0.0073	0.0071	0.0104	0.0095	0.0017	0	0.0086	0.0617	0.0129	0.0012	0.0340	0.0084	0.0128	0.0114	0.052	0.39575	T	0.302	0.21144	T	0.604	0.39417	P	0.369	0.43514	B	0.000003	0.62929	D	0.000000	0.99998	0.54805	D	1.225	0.30651	L	-1.75	0.83578	D	-1.15	0.30140	N	0.233	0.26233	-0.2255	0.77006	T	0.400	0.75166	T	10	0.007070422	0.00161	T	.	.	.	0.382	0.69946	.	.	.	.	0.19137380748694238	0.19055	1.331011174	0.83652	0.601731181145	0.53148	T	0.473339	0.80524	T	-0.233667	0.16167	T	-0.0947976	0.63798	T	0.0174632381218672	0.00482	T	0.791621	0.43272	T	0.20917833	0.43177	0.17703225	0.40277	0.20866819	0.43111	0.17703225	0.40276	-4.376	0.29230	T	0.2561851620090893	0.34633	0.087	0.15206	B	.;.;.	.;.;.	4.105940	0.61261	24.3	0.93890401688013392	0.23914	0.96778	0.70889	D	AEFBI	0.617639	0.60374	D	0.271685724131068	0.54720	3.636797	0.373597985528741	0.59941	4.176549	0.999998223959344	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.49	5.49	0.81022	5.816000	0.68900	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	19.361	0.94429	580	0.69689	.;.;.	.	.	.	.	.	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	0.119	9875.44	33	chr16	3781229	.	G	T	9875.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-6.200e-01;DP=1574;ExcessHet=1.1607;FS=1.168;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=0.238;SOR=0.839	GT:AD:DP:GQ:PL	0/1:159,89:248:99:2192,0,4338	16	0	5	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	0/2:98,15,18:145:19:19,63,2633,0,2023,2423	7	0	5	0
chr16	30091839	30091839	C	A	intronic	TBX6	.	.	.	Spondylocostal dysostosis 5, Autosomal recessive, Autosomal dominant	YES	1246	176	28	72	0	172	0.328244	.	.	185945	not_specified|Spondylocostal_dysostosis_5	MedGen:CN169374|MONDO:MONDO:0007389,MedGen:C4083048,OMIM:122600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462061	.	.	.	.	.	.	.	.	0.423506	11023	26028	rs3809627	0.3478	0.0657	0.3200	0.3582	0.5000	0.2795	0.2547	0.2790	0.2465	0.2000	0	0.5000	0.5000	.	.	0.3725	0.3750	0.3276	0.4146	0.4149	0.4083	0.4212	0.5713	0.4119	0.4108	0.5541	0.5471	0.3471	0.3575	0.4821	0.4622	0.5713	0.4831	0.4388	0.4110	0.4262	0.4861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	313.36	3	chr16	30091839	.	C	A	313.36	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-1.150e+00;DP=36;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3131;MLEAC=8;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=24.10;ReadPosRankSum=0.319;SOR=0.593	GT:AD:DP:GQ:PL	0/1:1,3:4:28:74,0,28	9	2	1	9
chr16	50710792	50710792	C	G	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.C800G:p.T267S	Blau syndrome, Autosomal dominant	.	1	1503	17	1	0	19	0.00628099	.	.	103775	not_provided|Autoinflammatory_syndrome|Blau_syndrome|Regional_enteritis|Inflammatory_bowel_disease_1	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|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	D	1.0	D	0.999	D	0.000	D	0.999	D	2.615	M	0.01	T	-0.072	T	0.441	T	0.487	2.658	14.85	4.59	2.616	3.090	12.683	0.453	.	7.7e-05	0.000599042	0.0016	0	0	0	0.0159	0.0010	0.0034	0.0015	0.0012936	200	154602	rs104895425	0.0009	0.0009	0.0008	0.0009	0.0018	0.0008	0.0008	0.0016	0.0015	2.987e-05	2.236e-05	0	0	0.0158	0.0014	0.0002	0.0010	0.0018	0.0015	0.0015	0.0007	0.0024	0.0017	0.0013	0.0013	0.0008	0.0006	2.405e-05	0	0	0	0	0.0179	0	0.0004	0.0005	0.0017	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.999378	0.46831	D	2.71	0.79292	M	0.01	0.62459	T	-3.03	0.62747	D	0.487	0.52119	-0.0718	0.80739	T	0.441	0.77928	T	10	0.011494249	0.00251	T	.	.	.	0.453	0.75279	0.663	0.80098	0.796638325416	0.79474	0.6449815059138468	0.64433	0.417046807606	0.42336	0.436996817589	0.30167	T	0.561292	0.85318	D	-0.314858	0.07328	T	-0.249676	0.49848	T	0.0917502078245112	0.11424	T	0.767123	0.39533	T	0.38401026	0.59605	0.37821427	0.62904	0.5141746	0.67924	0.3304562	0.58914	-6.747	0.52163	T	0.6404888967544875	0.71113	0.333	0.55403	B	.;.	.;.	3.646754	0.51738	23.1	0.99442847584936889	0.64870	0.92131	0.55013	D	AEFDBI	0.536069	0.55443	D	0.56547503334926	0.71030	5.589233	0.473089049408269	0.66213	4.922825	0.999999985701156	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	4.59	0.56297	2.739000	0.47083	3.264000	0.37112	-0.176000	0.10722	0.987000	0.36337	0.998000	0.33993	0.118000	0.19084	0.0:0.9173:0.0:0.0827	12.683	0.56298	701	0.57775	.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	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	0.04762	2840.11	33	chr16	50710792	.	C	G	2840.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.184;DP=1479;ExcessHet=0.1072;FS=10.911;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.020;SOR=0.315	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1450,0,1810	19	0	2	0
chr16	50731908	50731908	C	T	UTR3	NOD2	NM_001370466:c.*89C>T;NM_022162:c.*89C>T;NM_001293557:c.*89C>T	.	.	Blau syndrome, Autosomal dominant	.	2	1493	26	1	0	28	0.00928998	.	.	335194	not_provided|Inflammatory_bowel_disease_1|Blau_syndrome	MedGen:C3661900|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.00011	17	154602	rs184545855	0.0021	0.0015	0.0018	0.0023	0.0065	0.0020	0.0020	0.0060	0.0058	4.771e-05	0.0002	0	2.737e-05	0.0157	0.0055	0.0007	0.0020	0.0065	0.0020	0.0020	0.0011	0.0029	0.0071	0.0018	0.0017	0.0052	0.0045	4.812e-05	0	0.0004	0.0003	0.0002	0.0180	0	0.0009	0.0024	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	819.11	27	chr16	50731908	.	C	T	819.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.940e-01;DP=625;ExcessHet=0.1072;FS=1.107;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.70;ReadPosRankSum=-3.030e-01;SOR=0.512	GT:AD:DP:GQ:PL	0/1:19,23:42:99:664,0,561	19	0	2	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.63	M	-1.59	D	0.600	D	0.727	D	0.374	4.496	24.1	4.37	1.333	7.712	15.754	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1818	186.47	102	chr16	68828281	.	G	C	186.47	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-1.109e+00;DP=2532;ExcessHet=0.6776;FS=194.204;InbreedingCoeff=-0.2767;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=-3.430e-01;SOR=10.494	GT:AD:DP:GQ:PL	0/1:112,26:145:90:90,0,2263	7	0	4	10
chr16	86513394	86513394	-	T	UTR3	FOXF1	NM_001451:c.*309_*310insT	.	.	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	.	1165	284	20	53	0	126	0.181556	.	.	336349	Alveolar_capillary_dysplasia_with_pulmonary_venous_misalignment|not_provided	MONDO:MONDO:0009934,MedGen:C2960310,OMIM:265380,Orphanet:210122|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18799	4893	26028	rs11392376	0.3517	0.2949	0.3418	0.3609	0.7850	0.3497	0.3489	0.7685	0.7618	0.7850	0.3611	0.3453	0.1825	0.3261	0.4485	0.3177	0.3568	0.4954	0.4602	0.4615	0.4635	0.4567	0.7838	0.4573	0.4561	0.7766	0.7737	0.7838	0.2923	0.3829	0.3420	0.1934	0.3376	0.5272	0.3267	0.4238	0.4940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3044.08	1	chr16	86513394	.	C	CT	3044.08	.	AC=10;AF=0.417;AN=24;BaseQRankSum=0.00;DP=89;ExcessHet=0.0018;FS=4.581;InbreedingCoeff=0.2944;MLEAC=15;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.38;SOR=0.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,3:5:75:0|1:86513394_C_CT:120,0,75:86513394	6	4	2	9
chr16	89816740	89816740	-	GGCCTTGCGTCGT	upstream	FANCA	dist=93	.	.	Fanconi anemia, complementation group A, Autosomal recessive	.	50	1018	318	136	0	590	0.224676	.	.	208324	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522963	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs11275235	0.2739	0.2644	0.2665	0.2809	0.9576	0.2728	0.2723	0.9471	0.9428	0.4104	0.4624	0.1766	0.9576	0.3603	0.2057	0.2121	0.3030	0.4074	0.3957	0.3973	0.3848	0.4071	0.9688	0.3931	0.3920	0.9463	0.9370	0.4731	0.2539	0.4650	0.1948	0.9688	0.3791	0.1747	0.3009	0.3658	0.4746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8497.7	6	chr16	89816740	.	A	AGGCCTTGCGTCGT	8497.7	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.389;DP=389;ExcessHet=0.0321;FS=22.573;InbreedingCoeff=0.3750;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=30.65;ReadPosRankSum=0.524;SOR=0.064	GT:AD:DP:GQ:PL	1/1:0,9:9:27:404,27,0	10	5	6	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.938	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.095	12.96	5.06	2.751	6.097	18.302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2024.09	102	chr17	3648932	.	G	C	2024.09	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.410e+00;DP=2311;ExcessHet=20.9642;FS=326.408;InbreedingCoeff=-0.6490;MLEAC=17;MLEAF=0.425;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.04;SOR=11.378	GT:AD:DP:GQ:PL	0/1:80,44:139:99:110,0,1250	4	0	16	1
chr17	6428382	6428382	T	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033055:exon2:c.A221T:p.Y74F	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	.	0	1519	3	0	0	3	0.000986518	.	.	193626	not_specified|not_provided|Leber_congenital_amaurosis_1|Leber_congenital_amaurosis_4	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.22	T	0.999	D	0.992	D	0.000	D	1.000	D	1.84	L	-2.84	D	0.449	D	0.724	D	0.819	3.643	18.52	4.9	1.962	7.691	12.772	0.845	0.0542788300811	0.0055	0.00199681	0.0042	0.0013	0.0029	0	0.0008	0.0061	0.0055	0.0026	0.0045924	710	154602	rs16955851	0.0060	0.0060	0.0061	0.0058	0.0071	0.0059	0.0058	0.0069	0.0069	0.0012	0.0033	0.0015	7.557e-05	0.0010	0.0014	0.0071	0.0046	0.0036	0.0039	0.0039	0.0042	0.0037	0.0067	0.0037	0.0036	0.0062	0.0060	0.0010	0	0.0047	0.0009	0.0004	0.0009	0	0.0067	0.0038	0.0025	0.116	0.28395	T	0.153	0.36101	T	0.655	0.77913	P	0.534	0.80445	P	0.000001	0.62929	D	0.058346	1	0.81001	D	2.5	0.72771	M	-2.84	0.91305	D	-2.43	0.53258	N	0.706	0.70966	0.449	0.89824	D	0.724	0.90528	D	10	0.024469852	0.00674	T	0.054279	0.65794	D	0.845	0.95175	.	.	0.898978955884	0.89797	0.6039856871579568	0.60329	0.51877166463	0.49718	0.683971405029	0.64840	T	0.373314	0.73733	T	-0.0286213	0.47618	T	0.195506	0.82880	D	0.0187121677499424	0.00584	T	0.756224	0.47330	T	0.645341	0.75116	0.26124224	0.51899	0.6295265	0.74274	0.29161036	0.55185	-8.627	0.68842	D	0.1842315181648148	0.23885	0.105	0.22933	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.954110	0.57946	23.9	0.98069804036237018	0.38015	0.97809	0.77292	D	AEFDBI	0.945785	0.95449	D	0.540172950503722	0.69485	5.363687	0.554326964236477	0.71699	5.694818	0.999993677732639	0.74766	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.9	4.9	0.63643	7.667000	0.82852	7.796000	0.69015	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.772	0.56806	872	0.31118	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1295.98	34	chr17	6428382	.	T	A	1295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=844;ExcessHet=0.0000;FS=4.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=0.012;SOR=0.803	GT:AD:DP:GQ:PL	0/1:58,52:110:99:1310,0,1415	20	0	1	0
chr17	7670630	7670630	C	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon6:c.G683T:p.G228V	Adrenal cortical carcinoma, Autosomal recessive;Breast cancer, Autosomal dominant;Choroid plexus papilloma, Autosomal dominant;Colorectal cancer, Autosomal dominant;Hepatocellular carcinoma, Somatic mutation;Li-Fraumeni syndrome, Autosomal dominant;Nasopharyngeal carcinoma;Osteosarcoma, Autosomal recessive;Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial	YES	.	.	.	.	.	.	.	.	.	152266	Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0018875,MedGen:C0085390,OMIM:PS151623,Orphanet:524|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.012	B	0.04	B	0.664	N	0.996	N	2.25	M	-5.49	D	0.716	D	0.921	D	0.15	-0.563	1.459	0.932	-0.279	-0.015	4.719	0.325	0.195512277915	.	.	5.224e-05	0	0	0	0.0002	7.82e-05	0	0	3.88e-05	6	154602	rs35993958	4.174e-05	4.173e-05	4.765e-05	3.576e-05	6.711e-05	3.311e-05	3.001e-05	3.343e-05	2.956e-05	0	6.711e-05	0	2.519e-05	9.365e-05	0	4.317e-05	3.312e-05	2.32e-05	8.544e-05	8.537e-05	2.57e-05	0.0001	6.556e-05	4.958e-05	3.964e-05	1.171e-05	6.25e-06	2.412e-05	0	6.556e-05	0	0	0.0008	0	4.41e-05	0	0	0.316	0.13744	T	0.257	0.25591	T	0.012	0.16265	B	0.04	0.23831	B	0.663504	0.10406	N	0.845077	0.996369	0.23037	N	1.75	0.45442	L	-5.49	0.99138	D	0.68	0.02228	N	0.365	0.45520	0.716	0.93374	D	0.921	0.97395	D	10	0.09957361	0.18079	T	0.195512	0.86426	D	0.325	0.64725	0.155	0.05858	0.755418883554	0.75320	0.3404412619522595	0.33957	0.132162359655	0.14894	0.256064116955	0.04433	T	0.36885	0.73367	T	-0.123809	0.32502	T	-0.211069	0.53594	T	0.0192148322353784	0.00628	T	0.531747	0.20891	T	0.05720615	0.11356	0.07868565	0.17647	0.05720615	0.11356	0.07868565	0.17647	-5.048	0.37780	T	0.38327875784568266	0.47741	0.077	0.10739	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.164379	0.05545	2.003	0.27338565953744215	0.01352	0.19982	0.20870	N	AEFBI	0.214301	0.33979	N	-1.37262766822357	0.02897	0.1286086	-1.4143170476447	0.03108	0.144354	1.05561642023614E-4	0.05123	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	0.932	0.18591	0.024000	0.13447	0.573000	0.19627	-0.816000	0.03012	0.000000	0.06391	0.097000	0.22620	0.092000	0.17891	0.0:0.3948:0.1635:0.4417	4.719	0.12291	450	0.79359	.;.;.;.;.;.;.;.	.	.	.	.	.	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	1	0	0.02381	899.98	35	chr17	7670630	.	C	A	899.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.610;SOR=0.760	GT:AD:DP:GQ:PL	0/1:36,35:71:99:914,0,898	20	0	1	0
chr17	31232069	31232069	T	C	intronic	NF1	.	.	.	Leukemia, juvenile myelomonocytic, Autosomal dominant, Somatic mutation;Neurofibromatosis, familial spinal, Autosomal dominant;Neurofibromatosis, type 1, Autosomal dominant;Neurofibromatosis-Noonan syndrome, Autosomal dominant;Watson syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	0	0.008	151794	not_specified|Neurofibromatosis,_type_1|Hereditary_cancer-predisposing_syndrome|Cardiovascular_phenotype|not_provided	MedGen:CN169374|MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200,Orphanet:636|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0046	0	0	0	0	0	9.733e-05	0.0002689	7	26028	rs587782218	0.0004	0.0004	0.0004	0.0003	0.0124	0.0003	0.0003	0.0112	0.0108	0.0124	0.0009	0	8.291e-05	4.117e-05	0.0015	3.754e-05	0.0008	0.0003	0.0036	0.0038	0.0036	0.0037	0.0131	0.0034	0.0033	0.0121	0.0117	0.0131	0	0.0015	0	0	0	0	1.49e-05	0.0045	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	463.98	36	chr17	31232069	.	T	C	463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.460e+00;DP=716;ExcessHet=0.0000;FS=1.618;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=-4.070e-01;SOR=0.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,19:40:99:0|1:31232043_AT_A:478,0,635:31232043	20	0	1	0
chr17	34634868	34634868	C	T	exonic	TMEM132E	.	synonymous SNV	TMEM132E:NM_001304438:exon7:c.C1758T:p.C586C,	.	.	.	.	.	.	.	.	.	.	.	586918	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.000399361	0.0005	0.0057	0.0002	0	0	0	0	0	0.0004269	66	154602	rs144692952	0.0002	0.0002	0.0002	0.0001	0.0058	0.0001	0.0001	0.0051	0.0048	0.0058	0.0002	0	0	0	0	0	0.0004	0	0.0015	0.0014	0.0017	0.0012	0.0052	0.0013	0.0012	0.0046	0.0044	0.0052	0	0.0002	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.02381	1856.98	36	chr17	34634868	.	C	T	1856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.097e+00;DP=871;ExcessHet=0.0000;FS=0.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=-6.430e-01;SOR=0.795	GT:AD:DP:GQ:PL	0/1:77,69:146:99:1871,0,2144	20	0	1	0
chr17	38330051	38330051	C	G	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.G3518C:p.S1173T,	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	1	1520	1	0	0	1	0.000328839	.	.	338202	not_provided|Congenital_stationary_night_blindness_1E|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.506	P	0.074	B	0.001	N	1.000	N	0.975	L	0.42	T	-0.910	T	0.104	T	0.161	1.600	11.31	5.27	2.733	0.870	12.011	0.116	0.00983965543425	.	0.000798722	0.0003	0	0	0	0	0	0	0.0025	0.0002975	46	154602	rs565610587	0.0001	0.0001	5.853e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0	0	0.0002	0.0021	0.0001	0.0001	6.422e-05	0.0002	0.0037	7.569e-05	6.275e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	.	.	.	0.017	0.60337	D	.	.	.	.	.	.	0.001060	0.40475	N	0.178133	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.127	0.12055	-0.9099	0.46867	T	0.104	0.38169	T	10	0.004954815	0.00106	T	0.00984	0.25653	T	.	.	0.196	0.10839	0.306695030598	0.30287	0.09363119126085746	0.09295	.	.	0.318886816502	0.13253	T	.	.	.	-0.496143	0.00601	T	-0.490999	0.23286	T	0.0434551604656094	0.04320	T	0.552145	0.19060	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17103	B	.;.	.;.	2.072972	0.26359	17.09	0.98531890623032181	0.42607	0.16072	0.19217	N	AEFGBI	.	.	.	-0.23634567432978	0.31651	1.776975	-0.189037010113283	0.31938	1.812212	0.999313567037455	0.39113	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	0.063000	0.14285	1.406000	0.26239	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.950000	0.49671	0.0:0.8263:0.1737:0.0	12.011	0.52579	125	0.94984	.;.	.	.	.	.	.	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	8253.98	35	chr17	38330051	.	C	G	8253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.359e+00;DP=2152;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.106;SOR=0.694	GT:AD:DP:GQ:PL	0/1:335,331:666:99:8268,0,8527	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	1/1:0,0,0,0,0,0,0:13:0:.:.:86,17,0,17,0,0,17,0,0,0,17,0,0,0,0,17,0,0,0,0,0,17,0,0,0,0,0,0	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	1/1:0,0,0,0,0,0,0:13:0:.:.:86,17,0,17,0,0,17,0,0,0,17,0,0,0,0,17,0,0,0,0,0,17,0,0,0,0,0,0	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	1/1:0,0,0,0,0,0,0:13:0:.:.:86,17,0,17,0,0,17,0,0,0,17,0,0,0,0,17,0,0,0,0,0,17,0,0,0,0,0,0	2	1	3	0
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	6	48	368	1100	0	2568	0.963964	.	.	1182690	not_provided|not_specified|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	1/1:0,124:124:99:4091,372,0	0	12	9	0
chr17	80202434	80202434	T	A	UTR3	CARD14	NM_001257970:c.*10T>A	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	3	581	641	245	52	1183	0.49324	.	.	390303	not_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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4160	0.35623	0.4195	0.2494	0.2489	0.4706	0.4337	0.4886	0.4391	0.3357	0.411004	63542	154602	rs8069255	0.4789	0.4785	0.4821	0.4756	0.5504	0.4779	0.4775	0.5443	0.5418	0.2463	0.2746	0.4213	0.5504	0.4314	0.4130	0.5079	0.4544	0.3360	0.4042	0.4042	0.4084	0.3999	0.5012	0.4015	0.4004	0.4967	0.4949	0.2537	0.7039	0.3372	0.4129	0.4998	0.4307	0.3946	0.5012	0.4019	0.3226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	15842.43	70	chr17	80202434	.	T	A,G	15842.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.587e+00;DP=1428;ExcessHet=3.1640;FS=0.564;InbreedingCoeff=-0.1407;MLEAC=14,1;MLEAF=0.333,0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=-5.000e-01;SOR=0.762	GT:AD:DP:GQ:PL	1/1:0,69,0:69:99:2463,207,0,2463,207,2463	8	2	10	0
chr17	80205094	80205094	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_024110:exon18:c.C2458T:p.R820W	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	YES	50	677	568	227	0	1022	0.430135	.	.	390229	Psoriasis_2|Pityriasis_rubra_pilaris|not_provided|not_specified|Autoinflammatory_syndrome	MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.912	P	0.17	B	0.045	N	0.149	P	1.04	L	3.41	T	-0.952	T	0.000	T	0.152	1.135	9.626	1.85	0.706	3.132	4.371	0.108	.	0.4093	0.353035	0.4244	0.2458	0.2536	0.4728	0.4509	0.4913	0.4363	0.3466	0.416469	64387	154602	rs11652075	0.4774	0.4773	0.4804	0.4744	0.5465	0.4765	0.4761	0.5404	0.5379	0.2319	0.2729	0.4216	0.5465	0.4308	0.4053	0.5063	0.4514	0.3424	0.3995	0.3997	0.4035	0.3954	0.4991	0.3969	0.3958	0.4946	0.4928	0.2409	0.7044	0.3346	0.4127	0.4952	0.4305	0.3844	0.4991	0.4020	0.3313	0.004	0.65419	D	0.035	0.52389	D	0.912	0.50421	P	0.17	0.35299	B	0.044886	0.23592	N	0.424901	0.99932	0.21372	P	1.04	0.26193	L	3.41	0.05574	T	-3.87	0.72594	D	0.111	0.10626	-0.9523	0.40573	T	0.000	0.00011	T	9	0.00018051267	0.00010	T	.	.	.	0.108	0.30607	.	.	.	.	0.6907763373857173	0.69017	0.3656648137	0.38159	0.328153610229	0.14655	T	0.159702	0.50324	T	-0.676618	0.00050	T	-0.600871	0.12738	T	0.0284327208824887	0.01751	T	0.822018	0.48145	T	0.073126465	0.16318	0.09188487	0.21627	0.08949082	0.20911	0.07744421	0.17251	-9.283	0.69500	D	0.35371682974795465	0.45071	0.107	0.20117	B	.;.;.	.;.;.	2.706086	0.35358	19.88	0.99284288146199018	0.58008	0.56796	0.30209	D	AEFDBCI	0.414520	0.48375	N	-0.377503514459143	0.26272	1.432592	-0.419791073847034	0.24417	1.336925	0.753767999298708	0.23401	0.554377	0.28877	0	0.550933	0.16991	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.09	1.85	0.24418	2.561000	0.45567	2.570000	0.33360	-0.249000	0.07183	0.963000	0.33788	0.978000	0.30204	0.008000	0.08271	0.3814:0.4907:0.0:0.128	4.371	0.10680	862	0.33134	.;.;.	CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood	RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|SGSH|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|SGSH	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	rs11652075	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.3333	29993.43	146	chr17	80205094	.	C	T	29993.43	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.730e-01;DP=2358;ExcessHet=2.0984;FS=0.541;InbreedingCoeff=-0.0714;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=0.084;SOR=0.733	GT:AD:DP:GQ:PL	1/1:0,170:170:99:5389,510,0	9	2	10	0
chr17	80208119	80208119	C	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	2	1229	268	23	0	314	0.113276	.	.	1158191	not_provided|Pityriasis_rubra_pilaris|Psoriasis_2|not_specified	MedGen:C3661900|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0888	0.0720847	0.1526	0.0280	0.1084	0.0075	0.2308	0.1873	0.1186	0.1770	0.0424962	6570	154602	rs111745899	0.1426	0.1377	0.1425	0.1428	0.1531	0.1421	0.1419	0.1525	0.1522	0.0236	0.0832	0.1421	0.0128	0.1780	0.1180	0.1531	0.1319	0.1183	0.1098	0.1098	0.1093	0.1102	0.1530	0.1084	0.1078	0.1505	0.1495	0.0271	0.1371	0.1085	0.1509	0.0098	0.1816	0.1463	0.1530	0.1191	0.1250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4394.9	84	chr17	80208119	.	C	A	4394.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.206e+00;DP=855;ExcessHet=0.0082;FS=10.405;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=18.54;ReadPosRankSum=0.379;SOR=0.322	GT:AD:DP:GQ:PL	0/1:43,38:81:99:1000,0,1250	18	1	2	0
chr18	23901136	23901136	G	A	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127718:exon10:c.G1019A:p.R340Q	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1929910	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.692	P	0.132	B	.	.	0.992	D	2.38	M	2.78	T	-1.077	T	0.030	T	0.179	2.078	12.90	1.88	0.124	1.016	9.856	0.099	0.0134280156378	.	0.000399361	0.0001	0	8.711e-05	0	0	7.521e-05	0	0.0005	0.0001164	18	154602	rs556381641	9.988e-05	0.0001	8.441e-05	0.0001	0.0005	8.646e-05	8.135e-05	0.0004	0.0004	0	0.0001	3.826e-05	0	0	0	7.735e-05	0.0001	0.0005	5.253e-05	5.25e-05	1.285e-05	9.399e-05	0.0014	2.555e-05	1.829e-05	0.0007	0.0005	0	0	0	0	0	0	0	1.47e-05	0	0.0014	0.052	0.39097	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	0.86307	0.41431	D	.	.	.	2.78	0.11298	T	-2.88	0.60507	D	0.079	0.13911	-1.0773	0.07881	T	0.030	0.12848	T	9	0.026670814	0.00829	T	0.013428	0.32827	T	0.099	0.28413	.	.	0.296679040009	0.29266	0.29560233306662514	0.29473	0.155856096555	0.17590	0.268794953823	0.05985	T	0.01988	0.15755	T	-0.4899	0.00651	T	-0.598753	0.12915	T	0.0654497147496634	0.07998	T	0.662834	0.39759	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.11749	B	.;.;.;.;.	.;.;.;.;.	2.214978	0.28262	17.74	0.994191929124009	0.63694	0.73210	0.35814	D	ALL	0.120950	0.23537	N	-0.367364449514171	0.26638	1.455388	-0.38283852467697	0.25509	1.403242	0.999999933588115	0.74766	0.616025	0.39624	0	0.574621	0.32753	0	0.550215	0.18615	0	0.548927	0.17530	0	.	.	5.76	1.88	0.24630	0.821000	0.26993	0.775000	0.21430	-0.106000	0.15538	0.995000	0.38783	0.019000	0.20708	0.682000	0.33600	0.2819:0.0:0.7181:0.0	9.856	0.40255	491	0.76657	.;Laminin alpha, domain I;.;Laminin alpha, domain I;Laminin alpha, domain I	.	.	.	.	.	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	1	0	0	0	0.02381	1060.98	34	chr18	23901136	.	G	A	1060.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.949;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.324e+00;SOR=0.622	GT:AD:DP:GQ:PL	0/1:46,44:90:99:1075,0,1047	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	0/1:45,51:96:99:1360,0,1125	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	0/1:27,26:53:99:779,0,888	11	1	9	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|1:34,25:59:99:0|1:1619334_G_A:947,0,1321:1619334	16	0	5	0
chr19	7642816	7642816	C	T	exonic	STXBP2	.	nonsynonymous SNV	STXBP2:NM_001127396:exon11:c.C944T:p.T315M	Hemophagocytic lymphohistiocytosis, familial, 5	.	2	1516	4	0	0	4	0.00131752	.	.	742213	Familial_hemophagocytic_lymphohistiocytosis_5|Autoinflammatory_syndrome|not_provided	MONDO:MONDO:0013135,MedGen:C2751293,OMIM:613101,Orphanet:540|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.99	D	0.000	D	1.000	D	2.415	M	-1.05	T	0.155	D	0.528	D	0.58	3.372	17.37	4.54	2.097	3.065	14.818	0.350	0.0706060410447	.	0.00119808	0.0004	0	0	0.0050	0	1.516e-05	0	0.0001	0.0003687	57	154602	rs201293382	0.0001	0.0001	0.0001	0.0001	0.0031	0.0001	0.0001	0.0027	0.0025	0	0	0	0.0031	0	0.0002	1.799e-05	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0050	0.0001	0.0001	0.0035	0.0030	2.407e-05	0	0	0	0.0050	0	0	1.47e-05	0.0009	0	0.075	0.35537	T	0.065	0.44905	T	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.35	0.67516	M	-1.05	0.76690	T	-2.4	0.52776	N	0.688	0.70263	0.155	0.85142	D	0.528	0.82472	D	10	0.01176703	0.00256	T	0.070606	0.71046	D	0.350	0.67142	.	.	0.849127935969	0.84768	0.4335165578649366	0.43268	0.863688015342	0.69086	0.613290250301	0.54781	T	0.486375	0.81289	T	-0.241922	0.15105	T	-0.119328	0.61858	T	0.0840229331498682	0.10493	T	0.953805	0.82399	D	0.34793168	0.56905	0.3478157	0.60430	0.34793168	0.56905	0.3478157	0.60430	-5.213	0.41016	T	0.44900397897338507	0.53315	0.162	0.44784	B	.;.;.	.;.;.	5.073955	0.84639	28.4	0.99899088623744592	0.97124	0.88945	0.49125	D	AEFBCI	0.707809	0.66242	D	0.443623880439635	0.63842	4.625938	0.365540756076854	0.59450	4.122866	0.999999966562862	0.74766	0.706298	0.61202	0	0.697927	0.68747	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.54	4.54	0.55220	6.036000	0.70590	7.397000	0.58550	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	14.818	0.69676	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	851.98	35	chr19	7642816	.	C	T	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=791;ExcessHet=0.0000;FS=0.868;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.452;SOR=0.566	GT:AD:DP:GQ:PL	0/1:40,35:75:99:866,0,902	20	0	1	0
chr19	13455161	13455161	G	C	exonic	CACNA1A	.	synonymous SNV	CACNA1A:NM_001127221:exon2:c.C345G:p.L115L	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	469456	Episodic_ataxia_type_2|Developmental_and_epileptic_encephalopathy,_42|not_provided	MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.141e-05	0	0	0	0	0	0.0011	0.0002	3.88e-05	6	154602	rs747917423	2.191e-05	2.189e-05	9.537e-06	3.441e-05	0.0003	1.586e-05	1.357e-05	0.0002	0.0002	0	0	0	0	0	0	6.301e-06	3.316e-05	0.0003	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	1183.98	34	chr19	13455161	.	G	C	1183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.58;ReadPosRankSum=-1.010e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/1:88,50:138:99:1198,0,2067	20	0	1	0
chr19	55137107	55137107	-	CACTA	exonic	TNNT1	.	stopgain	TNNT1:NM_001126133:exon10:c.573_574insTAGTG:p.L192*	Nemaline myopathy 5, Amish type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	792815	Nemaline_myopathy_5|not_provided	MONDO:MONDO:0011539,MedGen:C1854380,OMIM:605355,Orphanet:98902|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2642.94	40	chr19	55137107	.	G	GCACTA	2642.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.472e+00;DP=817;ExcessHet=0.0000;FS=0.692;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.21;ReadPosRankSum=0.268;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,67:119:99:0|1:55137104_G_A:2657,0,1982:55137104	20	0	1	0
chr20	33408583	33408583	G	A	exonic	SNTA1	.	nonsynonymous SNV	SNTA1:NM_003098:exon8:c.C1442T:p.S481L,	Long QT syndrome 12, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	186287	Long_QT_syndrome_12|not_specified|Long_QT_syndrome|Cardiovascular_phenotype	MONDO:MONDO:0013062,MedGen:C2751830,OMIM:612955,Orphanet:101016,Orphanet:768|MedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.869	P	0.000	D	0.998	D	2.095	M	-1.87	D	0.536	D	0.698	D	0.451	4.150	21.4	4.73	2.167	2.762	17.329	0.540	0.0799196299761	7.7e-05	.	2.472e-05	0	0	0	0	4.497e-05	0	0	4.53e-05	7	154602	rs370531842	0.0001	0.0001	0.0001	9.626e-05	0.0001	9.873e-05	9.282e-05	0.0001	0.0001	5.974e-05	4.472e-05	0	0	0	0	0.0001	6.623e-05	1.159e-05	6.571e-05	6.567e-05	8.991e-05	4.036e-05	9.65e-05	3.517e-05	2.616e-05	3.249e-05	1.914e-05	9.65e-05	0	6.547e-05	0	0	0	0	7.349e-05	0	0	0.013	0.53900	D	0.022	0.57587	D	1.0	0.90584	D	0.869	0.61749	P	0.000247	0.46924	D	0.146305	0.998337	0.44783	D	2.295	0.65404	M	-1.87	0.84415	D	-3.68	0.70314	D	0.667	0.67564	0.536	0.91043	D	0.698	0.89580	D	10	0.7927327	0.78802	D	0.07992	0.73344	D	0.540	0.80782	.	.	0.890496652	0.88941	0.5688575547055033	0.56813	0.25362918265	0.27937	0.667308151722	0.62455	T	0.596364	0.86999	D	-0.0465216	0.44972	T	-0.112919	0.62379	T	0.70851081609726	0.41127	D	0.981402	0.93712	D	0.3632441	0.58081	0.28907537	0.54926	0.3632441	0.58082	0.28907537	0.54925	-13.704	0.92055	D	0.4828639369564208	0.56120	0.314	0.54034	B	.	.	4.979936	0.82485	27.8	0.9988702502107828	0.96204	0.97592	0.75763	D	AEFDBI	0.636284	0.61549	D	0.509760599934278	0.67666	5.11205	0.493725477028733	0.67573	5.102191	0.999652428613431	0.41424	0.706298	0.61202	0	0.688494	0.66719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	3.489000	0.53000	10.004000	0.83058	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.329	0.87144	63	0.97314	.	.	.	.	.	.	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	848.98	33	chr20	33408583	.	G	A	848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.088;DP=756;ExcessHet=0.0000;FS=3.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-5.080e-01;SOR=0.405	GT:AD:DP:GQ:PL	0/1:38,35:73:99:863,0,958	20	0	1	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	.	212	501	433	376	0	1185	0.541838	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM: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	1/1:0,2:2:6:85,6,0	3	9	7	2
chr20	46729453	46729453	G	A	exonic	SLC2A10	.	synonymous SNV	SLC2A10:NM_030777:exon4:c.G1512A:p.S504S,	Arterial tortuosity syndrome, Autosomal recessive	.	0	1503	19	0	0	19	0.00628099	.	.	142879	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided|Arterial_tortuosity_syndrome|not_specified	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|MONDO:MONDO:0008818,MedGen:C1859726,OMIM:208050,Orphanet:3342|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000998403	0.0014	0.0002	0.0011	0	0.0002	0.0020	0.0044	0.0008	0.0012936	200	154602	rs117587497	0.0013	0.0013	0.0012	0.0014	0.0095	0.0013	0.0013	0.0075	0.0068	0.0005	0.0017	0.0027	0	0.0005	0.0095	0.0013	0.0025	0.0009	0.0013	0.0013	0.0014	0.0012	0.0019	0.0011	0.0011	0.0017	0.0016	0.0002	0	0.0016	0.0040	0	0.0003	0.0102	0.0019	0.0033	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	0.02381	3137.98	128	chr20	46729453	.	G	A	3137.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.941;DP=1806;ExcessHet=0.0000;FS=0.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.656;SOR=0.741	GT:AD:DP:GQ:PL	0/1:134,126:260:99:3152,0,3186	20	0	1	0
chr20	59023753	59023753	G	A	exonic	TUBB1	.	nonsynonymous SNV	TUBB1:NM_030773:exon4:c.G326A:p.G109E,	Macrothrombocytopenia, autosomal dominant, TUBB1-related, Autosomal dominant	YES	0	1520	2	0	0	2	0.000657462	.	.	615619	Macrothrombocytopenia|Thrombocytopenia|not_provided|Macrothrombocytopenia,_isolated,_1,_autosomal_dominant|TUBB1-related_disorder	Human_Phenotype_Ontology:HP:0040185,MedGen:C2751260|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MedGen:C3661900|MONDO:MONDO:0800047,MedGen:C5676892,OMIM:613112,Orphanet:140957|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	5.38	H	-0.97	T	1.012	D	0.819	D	0.979	3.400	17.48	5.39	2.537	9.824	18.114	0.779	0.170336658744	0.0011	0.000798722	0.0009	0.0002	8.637e-05	0	0.0006	0.0015	0	6.056e-05	0.0008797	136	154602	rs41303899	0.0013	0.0013	0.0013	0.0012	0.0015	0.0012	0.0012	0.0015	0.0015	0.0004	8.944e-05	3.826e-05	0	0.0007	0.0005	0.0015	0.0008	2.319e-05	0.0009	0.0009	0.0009	0.0009	0.0015	0.0008	0.0007	0.0013	0.0012	0.0002	0	0.0005	0	0.0002	0.0008	0	0.0015	0.0014	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	5.235	0.99964	H	-0.97	0.75670	T	-5.37	0.84882	D	0.917	0.91968	1.012	0.97387	D	0.819	0.93912	D	10	0.5017678	0.61589	D	0.170337	0.84792	D	0.779	0.92623	.	.	0.949475789329	0.94894	0.9180012566344369	0.91776	0.863764543004	0.69092	0.794248580933	0.81088	T	0.666875	0.90068	D	0.0964125	0.63902	D	0.346699	0.90185	D	0.214118916495516	0.21166	T	0.873013	0.58094	D	0.9470945	0.95970	0.9291467	0.97036	0.93230987	0.94468	0.93363816	0.97344	-12.216	0.85887	D	0.7529831719877856	0.83504	0.996	0.95995	P	.	.	4.313908	0.65970	24.9	0.99762127289978564	0.85172	0.98171	0.80217	D	AEFBCI	0.921223	0.89438	D	1.11622411434772	0.98423	18.23768	0.926331347383901	0.96621	14.92586	1.0	0.98316	0.498214	0.20090	0	0.379588	0.06130	0	0.572659	0.19721	0	0.711	0.71501	0	.	.	5.39	5.39	0.77615	10.003000	0.99689	11.851000	0.98077	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.095000	0.18041	0.0:0.0:1.0:0.0	18.114	0.89476	973	0.05605	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2544.98	37	chr20	59023753	.	G	A	2544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=880;ExcessHet=0.0000;FS=3.529;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-1.616e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/1:80,89:169:99:2559,0,2121	20	0	1	0
chr22	37768157	37768157	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_007032:exon9:c.G1417A:p.G473S	Deafness, autosomal recessive 28, Autosomal recessive	.	2	1510	10	0	0	10	0.00330033	.	.	231218	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.175	B	0.084	B	.	.	1.000	N	-1.1	N	2.24	T	-0.986	T	0.016	T	0.081	2.316	13.70	1.64	0.687	1.336	4.545	0.014	0.00889148132108	0.0006	0.000599042	0.0006	0.0008	0.0005	0	0	0.0006	0	0.0008	0.0004786	74	154602	rs191901426	0.0004	0.0004	0.0004	0.0005	0.0061	0.0004	0.0004	0.0045	0.0039	0.0004	0.0002	0.0003	2.521e-05	0	0.0061	0.0004	0.0008	0.0010	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0004	0.0003	0.0001	0	0.0005	0.0003	0	0	0.0068	0.0005	0	0.0010	0.315	0.13789	T	0.422	0.14034	T	0.024	0.19075	B	0.005	0.11217	B	.	.	.	.	0.99921	0.23853	N	-0.14	0.04484	N	2.24	0.20664	T	-0.84	0.31375	N	0.16	0.16725	-0.9859	0.33615	T	0.016	0.06473	T	9	0.008279085	0.00188	T	0.008891	0.23439	T	0.014	0.01968	.	.	0.253205268125	0.24938	0.06350221973927411	0.06289	0.258245614036	0.28380	0.423331797123	0.28295	T	0.011622	0.10346	T	-0.562184	0.00246	T	-0.67305	0.07414	T	0.0107156518032679	0.00151	T	0.764923	0.39623	T	0.04071498	0.05863	0.05715914	0.10342	0.045274626	0.07382	0.068579115	0.14340	-3.564	0.22438	T	.	.	0.082	0.08948	B	.;.;.	.;.;.	2.722786	0.35617	19.95	0.97346928616857309	0.33505	0.70160	0.34476	D	AEFGBCI	0.119296	0.23289	N	-0.617639284489508	0.18415	0.9558382	-0.410331147442293	0.24693	1.354	0.998590507875126	0.37268	0.67177	0.52595	0	0.643519	0.57511	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.01	1.64	0.22949	1.488000	0.35160	6.434000	0.55639	0.662000	0.56354	0.791000	0.29607	1.000000	0.68203	0.987000	0.62547	0.3357:0.0:0.5106:0.1537	4.545	0.11478	809	0.43032	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	663.98	36	chr22	37768157	.	G	A	663.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.960e-01;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.55;ReadPosRankSum=1.17;SOR=0.602	GT:AD:DP:GQ:PL	0/1:58,30:88:99:678,0,1689	20	0	1	0
chr22	43928847	43928847	C	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon3:c.C444G:p.I148M,	.	.	418	622	397	85	0	567	0.313087	.	.	352627	NAFLD1|Hepatic_steatosis|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.03	D	0.994	D	0.944	D	0.016	N	0.000	P	3.265	M	-1.41	T	-1.028	T	0.000	T	0.209	1.841	12.12	-1.97	-0.125	-0.914	6.383	0.339	.	0.1953	0.262181	0.2632	0.1376	0.5723	0.3785	0.2262	0.2293	0.2687	0.2174	0.255825	39551	154602	rs738409	0.2325	0.2339	0.2333	0.2317	0.5358	0.2319	0.2316	0.5301	0.5278	0.1320	0.5358	0.2180	0.4180	0.2272	0.2696	0.2179	0.2294	0.2237	0.2281	0.2285	0.2230	0.2335	0.4235	0.2261	0.2253	0.4148	0.4113	0.1395	0.2720	0.4235	0.2111	0.3866	0.2201	0.2483	0.2262	0.2624	0.2372	0.054	0.38633	T	0.003	0.76473	D	0.994	0.66517	D	0.944	0.68059	D	0.016391	0.27990	N	0.316000	0.000289165	0.48481	P	3.045	0.86684	M	-1.41	0.80560	T	-2.57	0.55501	D	0.173	0.18512	-1.0285	0.20940	T	0.000	0.00011	T	9	0.0025928915	0.00039	T	.	.	.	0.339	0.66106	.	.	.	.	0.6869485544173306	0.68634	0.503164557005	0.48655	0.487125337124	0.37040	T	0.29702	0.66963	T	-0.485539	0.00687	T	-0.326399	0.41867	T	0.0306719473680774	0.02094	T	0.692831	0.33234	T	0.40859076	0.61323	0.35764056	0.61255	0.40859076	0.61324	0.35764056	0.61254	-9.124	0.68491	D	.	.	0.329	0.55166	B	.;.	.;.	1.374372	0.17849	13.40	0.99302197316743868	0.58686	0.52933	0.29250	D	AEFBCI	0.108930	0.21653	N	-0.255780834863084	0.30874	1.725634	-0.533311740709871	0.21251	1.14871	0.99975902258671	0.42595	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.7	-1.97	0.07091	-1.142000	0.03314	-1.110000	0.06300	-0.176000	0.10722	0.009000	0.18154	0.001000	0.17328	0.035000	0.13729	0.0:0.4064:0.2195:0.3741	6.383	0.20749	855	0.34697	Patatin-like phospholipase domain|Patatin-like phospholipase domain;.	SAMM50|SAMM50|SAMM50|PNPLA3|PNPLA3	Adipose_Subcutaneous|Breast_Mammary_Tissue|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	SAMM50|SAMM50|SAMM50|PNPLA3|SAMM50	Artery_Tibial|Colon_Sigmoid|Prostate|Skin_Sun_Exposed_Lower_leg|Testis	rs738409	Uncertain significance	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.3571	34134.34	43	chr22	43928847	.	C	G	34134.34	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.62;DP=2033;ExcessHet=3.1640;FS=0.521;InbreedingCoeff=-0.1407;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=20.50;ReadPosRankSum=0.110;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,133:133:99:1|1:43928847_C_G:5925,400,0:43928847	8	2	11	0
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E,	.	.	425	173	454	470	0	1394	0.801149	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	0.000	N	1.000	P	0	N	1.36	T	-0.993	T	0.000	T	0.017	-1.344	0.030	-5.47	-1.617	-2.202	1.474	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.6905	60939.29	38	chr22	43946236	.	A	G	60939.29	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.056e+00;DP=2777;ExcessHet=0.0158;FS=0.717;InbreedingCoeff=0.4430;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=24.07;ReadPosRankSum=0.942;SOR=0.789	GT:AD:DP:GQ:PL	1/1:0,158:158:99:4687,474,0	4	12	5	0
chrX	49256855	49256855	G	A	exonic	FOXP3	.	synonymous SNV	FOXP3:NM_001114377:exon5:c.C438T:p.S146S	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, X-linked recessive	YES	0	1411	80	31	0	142	0.0479082	0.0363	0.636	134557	not_specified|not_provided|Insulin-dependent_diabetes_mellitus_secretory_diarrhea_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010580,MedGen:C0342288,OMIM:304790,Orphanet:37042	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0297	0.0148344	0.0313	0.0056	0.0093	0.0002	0.0431	0.0460	0.0462	0.0184	0.0298379	4613	154602	rs2232367	0.0346	0.0346	0.0347	0.0343	0.0486	0.0343	0.0342	0.0431	0.0410	0.0041	0.0151	0.0751	6.622e-05	0.0522	0.0486	0.0370	0.0331	0.0165	0.0294	0.0297	0.0296	0.0290	0.0408	0.0286	0.0282	0.0393	0.0388	0.0056	0.0176	0.0300	0.0826	0.0003	0.0540	0.0505	0.0408	0.0313	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8131.49	119	chrX	49256855	.	G	A	8131.49	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-6.120e-01;DP=937;ExcessHet=0.0000;FS=3.326;InbreedingCoeff=0.8286;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=24.20;ReadPosRankSum=1.57;SOR=0.541	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2025,210,0	17	3	1	0
chrX	111744726	111744728	ACC	-	exonic	ALG13	.	nonframeshift deletion	ALG13:NM_001099922:exon24:c.2754_2756del:p.P945del	Epileptic encephalopathy, early infantile, 36, X-linked dominant	.	209	1301	2	3	7	15	0.00306513	.	.	488365	Inborn_genetic_diseases|not_provided|Developmental_and_epileptic_encephalopathy,_36|ALG13-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884,Orphanet:324422|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.531e-05	0	0	0	0	8.02e-05	0	0	3.84e-05	1	26028	rs759349340	0.0016	0.0070	0.0022	0.0002	0.0025	0.0015	0.0015	0.0022	0.0020	0.0021	0.0010	0.0007	0.0010	0.0004	0.0009	0.0016	0.0017	0.0025	0.0010	0.0019	0.0013	0.0002	0.0023	0.0009	0.0008	0.0015	0.0013	0.0019	0	0.0009	0	0.0023	0.0003	0	0.0007	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3067.05	39	chrX	111744725	.	TACC	T	3067.05	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.180e+00;DP=843;ExcessHet=0.0000;FS=3.212;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=34.85;ReadPosRankSum=-5.120e-01;SOR=0.407	GT:AD:DP:GQ:PL	1/1:1,87:88:99:3095,235,0	20	1	0	0
chrX	133704278	133704278	A	-	intronic	GPC3	.	.	.	Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive;Wilms tumor, somatic	.	1	149	65	0	11	76	0.179063	.	.	1164583	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3076	0.2675	0.3111	0.3898	0.3058	0.3709	0.3238	0.1926	0.0006916	18	26028	rs374169314	0.1287	0.1448	0.1649	0.0007	0.1730	0.1280	0.1276	0.1670	0.1646	0.1118	0.1730	0.1608	0.1657	0.1779	0.1065	0.1249	0.1391	0.1169	0.0077	0.0090	0.0082	0.0061	0.0202	0.0072	0.0070	0.0188	0.0182	0.0202	0	0.0056	0.0043	0.0049	0.0071	0.0052	0.0013	0.0074	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	809.22	77	chrX	133704277	.	GA	G	809.22	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.080e-01;DP=1245;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2718;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.48;ReadPosRankSum=0.142;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,12:48:99:.:.:159,0,775	12	0	9	0