Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	PID2583-P	WT	HH	HZ	NC
chr1	17028580	17028580	A	T	intronic	SDHB	.	.	.	Cowden syndrome 2, Autosomal dominant;Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4, Autosomal dominant;Pheochromocytoma, Autosomal dominant	0	1494	27	1	0	29	0.0096122	.	.	.	45430	Paragangliomas_4|Gastrointestinal_stromal_tumor|not_specified|not_provided|Pheochromocytoma|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0022	0.00119808	0.0031	0.0004	0.0022	0	0.0005	0.0028	0.0055	0.0089	0.0028719	444	154602	rs190139590	0.0033	0.0033	0.0031	0.0036	0.0100	0.0032	0.0032	0.0095	0.0092	0.0004	0.0020	0.0062	2.519e-05	0.0005	0.0061	0.0031	0.0038	0.0100	0.0019	0.0019	0.0019	0.0020	0.0075	0.0017	0.0017	0.0055	0.0049	0.0004	0	0.0024	0.0058	0.0002	0.0003	0.0068	0.0025	0.0024	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1575.33	127	chr1	17028580	.	A	T	1575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.88;SOR=0.669	GT:AD:DP:GQ:PL	0/1:68,59:127:99:1589,0,1696	18	0	1	0
chr1	37708312	37708314	TTC	-	intronic	CDCA8	.	.	.	.	430	656	353	83	0	519	0.283452	.	.	.	1310279	Neutrophil_inclusion_bodies|CDCA8-related_condition|not_specified	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2158	0.364217	0.2783	0.2577	0.4416	0.7111	0.2264	0.1916	0.2695	0.3211	0.0001537	4	26028	rs145033890	0.2126	0.2132	0.2108	0.2144	0.6712	0.2120	0.2117	0.6645	0.6617	0.2510	0.4088	0.2738	0.6712	0.2205	0.2368	0.1761	0.2370	0.3125	0.2412	0.2420	0.2349	0.2479	0.6862	0.2391	0.2383	0.6673	0.6596	0.2534	0.1154	0.3139	0.2784	0.6862	0.2248	0.2021	0.1800	0.2481	0.3272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	33620.1	156	chr1	37708311	.	TTTC	T	33620.1	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.21;DP=1786;ExcessHet=0.5777;FS=1.129;InbreedingCoeff=0.1044;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=24.29;ReadPosRankSum=0.002;SOR=0.787	GT:AD:DP:GQ:PL	0/1:61,95:156:99:3758,0,2269	10	2	7	0
chr1	39322623	39322623	C	A	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon31:c.C4060A:p.L1354M	.	430	1082	10	0	0	10	0.00459982	.	.	.	971333	Spectraplakinopathy_type_I|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.196	0.074181002059	0.0008	0.000199681	0.0011	0.0005	0.0017	0	0.0008	0.0013	0	0.0012	0.0010931	169	154602	rs141025026	0.0011	0.0011	0.0011	0.0012	0.0031	0.0011	0.0011	0.0020	0.0017	0.0003	0.0014	0.0012	0	0.0005	0.0031	0.0012	0.0011	0.0014	0.0009	0.0009	0.0008	0.0009	0.0017	0.0007	0.0007	0.0012	0.0010	0.0002	0	0.0017	0.0014	0	0.0005	0.0034	0.0011	0.0033	0.0004	0.015	0.65419	D	0.078	0.65728	T	0.999	0.77913	D	0.965	0.71173	D	.	.	.	.	0.997146	0.54805	D	.	.	.	-0.43	0.71425	T	-1.13	0.33798	N	0.553	0.57860	-0.1046	0.79993	T	0.501	0.81134	D	9	0.03752166	0.02111	T	0.074181	0.71977	D	0.234	0.53644	.	.	0.676492767695	0.67374	0.24167956163382087	0.24081	.	.	0.780992388725	0.79077	T	0.082777	0.53003	T	-0.143071	0.29403	T	-0.00836763	0.69790	D	0.0589111484587193	0.06996	T	0.928807	0.74741	D	0.28034267	0.51082	0.20437068	0.44558	0.28034267	0.51081	0.20437068	0.44557	-9.351	0.72827	D	.	.	0.212	0.46214	B	.;.;.;.;.;.	.;.;.;.;.;.	3.447765	0.47999	22.5	0.99688708648307756	0.79775	0.96524	0.69570	D	AEFGBCI	0.534732	0.55365	D	0.496658169237262	0.66893	5.009675	0.561872396246422	0.72228	5.776739	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	2.206000	0.42416	0.609000	0.20011	0.599000	0.40250	1.000000	0.71638	0.094000	0.22579	0.997000	0.79791	0.0:1.0:0.0:0.0	20.478	0.99191	560	0.71333	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1793.33	178	chr1	39322623	.	C	A	1793.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=798;ExcessHet=0;FS=0.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=0.009;SOR=0.611	GT:AD:DP:GQ:PL	0/1:100,78:178:99:1807,0,2368	18	0	1	0
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q	Hypercholesterolemia, familial, 3	1	0	1	1520	0	3041	1	.	.	.	249989	Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|not_provided|not_specified|Cardiovascular_phenotype|Hypobetalipoproteinemia	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.994965	0.974747	0.994565	0.997076	1.000000	1.000000	0.996951	1.000000	1.0	102349.0	197	chr1	55057360	.	A	G	102349.0	.	AC=38;AF=1;AN=38;BaseQRankSum=2;DP=3350;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=31.41;ReadPosRankSum=1.31;SOR=0.251	GT:AD:DP:GQ:PL	1/1:0,197:197:99:6397,591,0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	16785.1	32	chr1	89054646	.	GAAAAAC	G	16785.1	.	AC=22;AF=0.579;AN=38;BaseQRankSum=0.619;DP=717;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.3523;MLEAC=22;MLEAF=0.579;MQ=59.94;MQRankSum=0;QD=32.09;ReadPosRankSum=0.749;SOR=0.642	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1419,96,0	5	8	6	0
chr1	114684369	114684369	-	A	intronic	AMPD1	.	.	.	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276344	Muscle_AMP_deaminase_deficiency|not_provided	MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0867	.	0.1200	0.1203	0.1369	0.1350	0.0829	0.1186	0.1118	0.1221	0.0001537	4	26028	rs776245360	0.0461	0.1576	0.0478	0.0444	0.0521	0.0457	0.0456	0.0494	0.0483	0.0521	0.0466	0.0442	0.0461	0.0467	0.0360	0.0467	0.0486	0.0361	0.0011	0.0016	0.0010	0.0013	0.0028	0.0010	0.0009	0.0024	0.0022	0.0028	0	0.0005	0	0.0004	0.0022	0	0.0003	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	43.9	49	chr1	114684369	.	C	CA	43.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.787;DP=754;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0538;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.215;SOR=0.659	GT:AD:DP:GQ:PL	0/1:40,6:49:12:12,0,945	17	0	2	0
chr1	114688633	114688633	G	A	exonic	AMPD1	.	nonsynonymous SNV	AMPD1:NM_001172626:exon2:c.C230T:p.P77L,AMPD1:NM_000036:exon3:c.C143T:p.P48L	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	1	1311	197	13	0	223	0.0783831	.	.	.	59862	AMPD1-related_disorder|Muscle_AMP_deaminase_deficiency|not_provided	.|MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.513	.	0.0959	0.0389377	0.0884	0.0204	0.0414	0	0.1190	0.1284	0.0936	0.0359	0.0907039	14023	154602	rs61752479	0.1149	0.1149	0.1169	0.1129	0.1321	0.1144	0.1142	0.1315	0.1313	0.0179	0.0524	0.0794	0.0002	0.1185	0.0700	0.1321	0.1031	0.0357	0.0864	0.0864	0.0890	0.0837	0.1345	0.0852	0.0847	0.1322	0.1312	0.0220	0.1352	0.0726	0.0735	0.0006	0.1190	0.1020	0.1345	0.0825	0.0278	0.0	0.91255	D	0.012	0.66756	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	5.66441e-12	0.58761	P	2.36	0.67893	M	-0.06	0.63568	T	-4.77	0.81675	D	0.319	0.52297	-0.4319	0.71004	T	0.327	0.69547	T	9	0.0030060112	0.00049	T	.	.	.	0.513	0.79156	.	.	.	.	0.6895456751198693	0.68894	0.458877496628	0.45489	0.575833857059	0.49499	T	0.66843	0.90131	D	-0.230384	0.16599	T	0.026113	0.72025	D	0.0275783631916759	0.01628	T	0.828517	0.49290	T	0.6593905	0.75866	0.67231613	0.80768	0.6971688	0.77904	0.6990365	0.82272	-5.592	0.42719	T	.	.	0.630	0.72046	P	.;.	.;.	5.188437	0.87016	29.1	0.99860740577331131	0.93911	0.99136	0.91756	D	AEFDBI	0.834469	0.75252	D	0.710865082701106	0.80343	7.27372	0.688672192200562	0.81517	7.54557	0.999999999756748	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.62	5.62	0.85714	9.346000	0.96459	9.894000	0.82296	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:1.0:0.0	20.025	0.97519	819	0.41190	.;.	DCLRE1B|AMPD1|BCAS2|BCAS2	Heart_Atrial_Appendage|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid	DENND2C|BCAS2|BCAS2|BCAS2|DENND2C|BCAS2	Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs61752479	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.067976	0.055556	0.082880	0.058480	0.150000	0.051724	0.097561	0.037879	0.1053	3595.43	104	chr1	114688633	.	G	A	3595.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.29;DP=871;ExcessHet=0.7564;FS=3.539;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=1.7;SOR=0.882	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1144,0,1180	15	0	4	0
chr1	114693436	114693436	G	A	exonic	AMPD1	.	stopgain	AMPD1:NM_000036:exon2:c.C34T:p.Q12X	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	10	1322	174	16	0	206	0.0722807	0.0437	0.214	YES	33310	not_specified|Muscle_AMP_deaminase_deficiency|not_provided|AMPD1-related_disorder	MedGen:CN169374|MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	.	.	0.0946	0.038139	0.0871	0.0205	0.0405	0	0.1181	0.1264	0.0929	0.0356	0.0032657	85	26028	rs17602729	0.1089	0.1113	0.1106	0.1071	0.1250	0.1084	0.1083	0.1244	0.1242	0.0164	0.0506	0.0773	0.0002	0.1164	0.0657	0.1250	0.0984	0.0347	0.0849	0.0849	0.0876	0.0821	0.1323	0.0837	0.0832	0.1300	0.1291	0.0217	0.1242	0.0703	0.0721	0.0006	0.1180	0.0959	0.1323	0.0803	0.0278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.44169e-26	0.81001	P	.	.	.	.	.	.	.	.	.	0.782	0.77883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153572	0.69602	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	Low	8.660054	0.97850	38	0.99660861544518997	0.77947	0.88917	0.49082	D	AEFI	0.504544	0.53606	D	0.849436995826206	0.89077	9.825315	0.649994004922376	0.78608	6.911039	0.00119960457971663	0.08324	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.91	2.84	0.32241	3.472000	0.52879	2.756000	0.34570	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.2934:0.7066:0.0	13.604	0.61503	816	0.41767	.	AMPD1|BCAS2|BCAS2	Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Thyroid	DENND2C|BCAS2|BCAS2|BCAS2|DENND2C|BCAS2	Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs17602729	Benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.063948	0.055556	0.081522	0.049708	0.150000	0.060345	0.088415	0.034091	0.1053	5414.43	150	chr1	114693436	.	G	A	5414.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.69;DP=1048;ExcessHet=0.7564;FS=2.47;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.32;SOR=0.836	GT:AD:DP:GQ:PL	0/1:84,66:150:99:1569,0,1849	15	0	4	0
chr1	119140608	119140608	A	C	exonic	WARS2	.	nonsynonymous SNV	WARS2:NM_001378228:exon1:c.T37G:p.W13G,WARS2:NM_001378229:exon1:c.T37G:p.W13G,WARS2:NM_001378231:exon1:c.T37G:p.W13G,WARS2:NM_015836:exon1:c.T37G:p.W13G,WARS2:NM_201263:exon1:c.T37G:p.W13G	.	423	1084	15	0	0	15	0.00687128	.	.	YES	434543	not_provided|Parkinsonism-dystonia_3,_childhood-onset|Inborn_genetic_diseases|WARS2-related_disorder|Neurodevelopmental_disorder,_mitochondrial,_with_abnormal_movements_and_lactic_acidosis,_with_or_without_seizures|Neurodevelopmental_disorder	MedGen:C3661900|MONDO:MONDO:0030676,MedGen:C5676913,OMIM:619738|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0060578,MedGen:C4540192,OMIM:617710,Orphanet:572798|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.121	0.00555365232878	0.0027	0.00199681	0.0034	0.0006	0.0044	0	0.0006	0.0044	0.0011	0.0034	0.0033441	517	154602	rs139548132	0.0036	0.0036	0.0036	0.0037	0.0078	0.0036	0.0035	0.0060	0.0054	0.0005	0.0042	0.0012	0	0.0009	0.0078	0.0040	0.0040	0.0037	0.0031	0.0031	0.0032	0.0030	0.0049	0.0029	0.0028	0.0045	0.0043	0.0008	0.0044	0.0042	0.0023	0	0.0005	0.0068	0.0049	0.0047	0.0039	0.081	0.36113	T	0.016	0.60972	D	0.001	0.07471	B	0.001	0.04355	B	0.097744	0.20013	N	0.534882	0.96309	0.26039	N	2.14	0.59869	M	0.99	0.41750	T	-0.74	0.21860	N	0.427	0.46649	-1.0499	0.14425	T	0.028	0.12190	T	10	0.0043417513	0.00088	T	0.005554	0.14319	T	0.121	0.33580	.	.	0.251679625132	0.24793	0.6198794439575772	0.61920	0.740897167152	0.63259	0.338066577911	0.16147	T	0.114069	0.43160	T	-0.450553	0.01121	T	-0.417353	0.31380	T	0.0366873790085819	0.03100	T	0.632737	0.24712	T	0.1685499	0.37319	0.098846555	0.23579	0.07218971	0.16040	0.108971946	0.26256	-4.802	0.34615	T	.	.	0.109	0.21541	B	.;.	.;.	1.890003	0.24007	16.23	0.89472259208166782	0.18826	0.11826	0.16886	N	ALL	0.118447	0.23160	N	-0.553494044451047	0.20375	1.073573	-0.457345149565875	0.23340	1.272343	0.999999999999984	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.273489	0.05413	2	.	.	6.04	0.718	0.17356	-0.145000	0.10248	2.378000	0.32469	0.756000	0.94297	0.473000	0.26745	1.000000	0.68203	0.865000	0.41091	0.3592:0.1819:0.1071:0.3518	0.681	0.00819	814	0.42100	.;.	.	.	.	.	.	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	0.007049	0.000000	0.006793	0.002924	0.000000	0.000000	0.024390	0.003788	0.07895	3681.77	99	chr1	119140608	.	A	C	3681.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.973;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.12;ReadPosRankSum=-1.525;SOR=0.708	GT:AD:DP:GQ:PL	1/1:0,99:99:99:2764,297,0	17	1	1	0
chr1	150557328	150557328	C	T	exonic	ADAMTSL4	.	synonymous SNV	ADAMTSL4:NM_001378596:exon12:c.C2040T:p.C680C,ADAMTSL4:NM_019032:exon12:c.C2040T:p.C680C,ADAMTSL4:NM_025008:exon12:c.C2040T:p.C680C,ADAMTSL4:NM_001288607:exon13:c.C1923T:p.C641C,ADAMTSL4:NM_001288608:exon13:c.C2109T:p.C703C	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	731704	not_provided|ADAMTSL4-related_disorder|Ectopia_lentis_2,_isolated,_autosomal_recessive	MedGen:C3661900|.|MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0007	0	0.0003	0.0001	0.0076	0.0003	0.0029	0.0008	0.0004851	75	154602	rs140005044	0.0005	0.0005	0.0005	0.0005	0.0014	0.0005	0.0005	0.0012	0.0011	2.997e-05	0	0	2.535e-05	0.0050	0.0007	0.0003	0.0006	0.0014	0.0007	0.0007	0.0003	0.0010	0.0010	0.0006	0.0005	0.0004	0.0003	7.216e-05	0	0	0	0.0002	0.0074	0	0.0002	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001008	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.05263	6249.81	209	chr1	150557328	.	C	T	6249.81	.	AC=2;AF=0.053;AN=38;DP=877;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.9;SOR=1.19	GT:AD:DP:GQ:PL	1/1:0,209:209:99:6277,625,0	18	1	0	0
chr1	158618068	158618068	G	A	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	3	913	508	98	0	704	0.278261	0.0005	0.264	YES	249428	Hemolytic_anemia|not_specified|Hereditary_spherocytosis_type_3|not_provided|Elliptocytosis_2|Pyropoikilocytosis,_hereditary	Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2491	0.227835	0.2564	0.1998	0.1610	0.1912	0.3018	0.2874	0.2617	0.2473	0.255081	39436	154602	rs28525570	0.2712	0.2729	0.2704	0.2720	0.2797	0.2705	0.2702	0.2788	0.2785	0.1970	0.1760	0.3492	0.2025	0.2895	0.2419	0.2797	0.2632	0.2453	0.2538	0.2539	0.2524	0.2553	0.2882	0.2517	0.2508	0.2848	0.2834	0.1983	0.2286	0.2184	0.3417	0.1855	0.3091	0.3265	0.2882	0.2640	0.2447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	9760.8	91	chr1	158618068	.	G	A	9760.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.17;DP=1146;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.208;SOR=0.723	GT:AD:DP:GQ:PL	0/1:53,38:91:99:914,0,1238	11	1	7	0
chr1	158627717	158627717	G	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon40:c.C5572G:p.L1858V	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	5	902	520	95	0	710	0.282418	.	.	YES	249434	not_specified|Hereditary_spherocytosis_type_3|Pyropoikilocytosis,_hereditary|Elliptocytosis_2|Hemolytic_anemia|not_provided	MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	0.2495	0.227835	0.2567	0.2000	0.1610	0.1910	0.3021	0.2878	0.2617	0.2475	0.255042	39430	154602	rs3737515	0.2731	0.2734	0.2725	0.2737	0.2819	0.2723	0.2721	0.2810	0.2807	0.1983	0.1760	0.3506	0.2028	0.2894	0.2433	0.2819	0.2648	0.2460	0.2536	0.2539	0.2523	0.2550	0.2882	0.2515	0.2506	0.2848	0.2834	0.1981	0.2286	0.2176	0.3430	0.1851	0.3087	0.3207	0.2882	0.2621	0.2442	0.009	0.57480	D	0.019	0.59159	D	0.601	0.39346	P	0.395	0.44317	B	0.295829	0.14686	N	0.398187	0.0322052	0.38617	P	2.66	0.77858	M	0.82	0.48142	T	-2.39	0.52612	N	0.242	0.27316	-1.0044	0.28636	T	0.100	0.37162	T	9	0.0018082857	0.00024	T	.	.	.	0.176	0.44373	.	.	.	.	0.10204742782828059	0.10134	0.151848470416	0.17138	0.413743078709	0.26975	T	0.398082	0.75628	T	-0.578861	0.00196	T	-0.46045	0.26549	T	0.0265270473936109	0.01477	T	0.989945	0.96848	D	0.47455317	0.65569	0.45098418	0.68054	0.5292539	0.68789	0.3938572	0.64094	-7.424	0.57073	T	0.4696991537525536	0.55038	0.119	0.24430	B	.;.	.;.	2.721452	0.35600	19.94	0.99057226967889789	0.51390	0.97183	0.73178	D	AEFBI	0.628036	0.61027	D	-0.0876209270705267	0.37935	2.214285	-0.10368608914381	0.35242	2.036537	0.00115487049960551	0.08283	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.55	2.68	0.30839	2.724000	0.46956	1.029000	0.23465	-0.106000	0.15538	1.000000	0.71638	0.238000	0.23831	0.191000	0.21631	0.2184:0.0:0.7816:0.0	10.249	0.42538	645	0.63593	.;.	CD1B	Whole_Blood	SPTA1|SPTA1	Testis|Whole_Blood	rs3737515	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.251259	0.282828	0.233696	0.292398	0.200000	0.250000	0.210366	0.265152	0.2368	13469.8	122	chr1	158627717	.	G	C	13469.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.065;DP=1324;ExcessHet=1.1637;FS=0.543;InbreedingCoeff=-0.0192;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-0.533;SOR=0.778	GT:AD:DP:GQ:PL	0/1:50,72:122:99:1810,0,1083	11	1	7	0
chr1	158642966	158642966	G	A	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon32:c.C4453T:p.L1485F	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	2	1470	47	3	0	53	0.017708	.	.	.	249443	Hereditary_spherocytosis_type_3|not_specified|Elliptocytosis_2|Pyropoikilocytosis,_hereditary|not_provided	MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:CN169374|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.526	.	0.0182	0.0135783	0.0195	0.0047	0.0128	0	0.0166	0.0240	0.0223	0.0261	0.0196116	3032	154602	rs34973695	0.0239	0.0239	0.0236	0.0243	0.0280	0.0237	0.0236	0.0270	0.0266	0.0029	0.0142	0.0340	0.0001	0.0128	0.0094	0.0260	0.0219	0.0280	0.0176	0.0176	0.0181	0.0171	0.0281	0.0170	0.0168	0.0258	0.0253	0.0043	0.0011	0.0145	0.0406	0.0010	0.0126	0.0238	0.0268	0.0156	0.0281	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.013169	0.28928	N	0.000000	0.999998	0.58761	D	3.555	0.93317	H	-0.6	0.71662	T	-3.55	0.68764	D	0.423	0.46274	0.232	0.86443	D	0.570	0.84449	D	10	0.009739518	0.00219	T	.	.	.	0.526	0.79947	.	.	.	.	0.3032044811607153	0.30233	0.229804232029	0.25532	0.48476588726	0.36714	T	0.534209	0.83935	D	-0.298793	0.08775	T	-0.181022	0.56429	T	0.0528499797072552	0.05994	T	0.956104	0.83363	D	0.5907191	0.72190	0.6780664	0.81090	0.59269214	0.72297	0.6780664	0.81091	-7.059	0.54464	T	0.6834547381841589	0.76015	0.352	0.56677	A	.;.	.;.	4.011907	0.59186	24.1	0.99882779866357774	0.95892	0.95961	0.66907	D	AEFBI	0.791310	0.71994	D	0.808080829851372	0.86611	8.940595	0.723698483346823	0.84177	8.220227	0.999999944129698	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.2	5.2	0.71720	4.612000	0.60873	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.485	0.87579	607	0.67291	.;.	.	.	.	.	rs34973695	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	0.011880	0.000000	0.009563	0.011765	0.000000	0.000000	0.003145	0.031008	0.02632	1048.33	102	chr1	158642966	.	G	A	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.511;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-1.394;SOR=0.614	GT:AD:DP:GQ:PL	0/1:60,42:102:99:1062,0,1676	18	0	1	0
chr1	158668076	158668078	AAA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276726	not_provided|Spherocytosis,_Recessive|Pyropoikilocytosis,_hereditary|Elliptocytosis	MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.261382	0.2751	0.1818	0.3209	0.3391	0.3421	0.2907	0.2962	0.1744	0.0001537	4	26028	rs140998442	0.2835	0.2762	0.2874	0.2795	0.3211	0.2827	0.2824	0.3164	0.3145	0.1824	0.3211	0.3004	0.3201	0.3428	0.3048	0.2886	0.2864	0.1756	0.3122	0.3051	0.3058	0.3190	0.4553	0.3097	0.3087	0.4394	0.4329	0.1942	0.4510	0.3960	0.3610	0.4553	0.4283	0.3444	0.3419	0.3398	0.2111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	18811.2	56	chr1	158668075	.	GAAA	G	18811.2	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.476;DP=1409;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.52;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=-0.025;SOR=0.659	GT:AD:DP:GQ:PL	1/0:0,28:56:99:1712,592,740	10	0	9	0
chr1	158668076	158668076	A	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277732	Pyropoikilocytosis,_hereditary|not_provided|Spherocytosis,_Recessive|Elliptocytosis	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.295927	0.2594	0.3676	0.2026	0.2423	0.2213	0.2473	0.2422	0.3088	0.0001153	3	26028	rs5778087	0.2240	0.2318	0.2228	0.2252	0.3653	0.2233	0.2230	0.3595	0.3571	0.3653	0.1704	0.2138	0.2344	0.1747	0.2460	0.2196	0.2324	0.2731	0.2818	0.2831	0.2829	0.2807	0.4731	0.2795	0.2785	0.4673	0.4649	0.4731	0.0657	0.1879	0.2095	0.2214	0.1760	0.2259	0.2103	0.2655	0.2866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	18811.2	56	chr1	158668075	.	GA	G	18811.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.476;DP=1409;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=-0.025;SOR=0.659	GT:AD:DP:GQ:PL	0/1:0,24:56:99:1712,981,829	8	1	10	0
chr1	161223056	161223061	CACACA	-	intronic	APOA2	.	.	.	Apolipoprotein A-II deficiency (3)	.	.	.	.	.	.	.	.	.	.	278001	Apolipoprotein_A-II_deficiency|APOA2-related_disorder|not_specified	MedGen:C3888202|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2676	0.2838	0.2889	0.3239	0.2824	0.2425	0.2683	0.3068	0.0001153	3	26028	rs141599125	0.2640	0.2643	0.2635	0.2644	0.3260	0.2632	0.2630	0.3212	0.3193	0.2963	0.2953	0.2656	0.3260	0.2789	0.2856	0.2556	0.2720	0.2986	0.3231	0.3245	0.3194	0.3271	0.3985	0.3207	0.3197	0.3839	0.3779	0.3433	0.3060	0.3376	0.3225	0.3985	0.3523	0.2740	0.2943	0.3310	0.3783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	33500.5	67	chr1	161223055	.	CCACACA	C	33500.5	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.231;DP=2087;ExcessHet=11.1788;FS=0;InbreedingCoeff=-0.4615;MLEAC=12;MLEAF=0.316;MQ=59.98;MQRankSum=0;QD=25.57;ReadPosRankSum=0.204;SOR=0.757	GT:AD:DP:GQ:PL	0/1:26,28:67:99:1120,0,1189	9	2	8	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0901	0.0583	0.0571	0.1111	0.0285	0.0764	0.1111	0.1608	0.0101813	265	26028	rs746838916	0.1940	0.2229	0.1966	0.1915	0.3563	0.1933	0.1931	0.3505	0.3481	0.0679	0.2628	0.2257	0.3563	0.2032	0.2132	0.1918	0.2017	0.1427	0.3472	0.3539	0.3502	0.3440	0.6153	0.3444	0.3432	0.5953	0.5872	0.1764	0.4207	0.4130	0.4226	0.6153	0.3414	0.3519	0.3888	0.3596	0.3282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	7705.08	28	chr1	168293284	.	A	AGT	7705.08	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-0.747;DP=1427;ExcessHet=3.4183;FS=14.134;InbreedingCoeff=-0.1579;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.78;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,6:28:77:.:.:1093,599,516:.	6	0	13	0
chr1	168293284	168293284	-	GTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278196	not_provided|not_specified|Congenital_isolated_adrenocorticotropic_hormone_deficiency	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0333	0.0427	0.0224	0.0212	0.0098	0.0195	0.0439	0.0785	0.003842	100	26028	rs746838916	0.0596	0.0819	0.0593	0.0600	0.1098	0.0593	0.0591	0.1069	0.1057	0.0570	0.1098	0.0482	0.0845	0.0707	0.0885	0.0555	0.0629	0.0722	0.1451	0.1522	0.1446	0.1456	0.1848	0.1432	0.1425	0.1784	0.1758	0.1799	0.1222	0.1848	0.0991	0.1600	0.1397	0.1396	0.1219	0.1484	0.1679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	7705.08	28	chr1	168293284	.	A	AGTGT	7705.08	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.747;DP=1427;ExcessHet=3.4183;FS=14.134;InbreedingCoeff=-0.1579;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.78;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,20:28:77:.:.:1093,151,77:.	14	0	5	0
chr1	169529737	169529737	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.A5290G:p.M1764V	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	683	630	208	0	1046	0.433665	.	.	.	249501	Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|not_specified|not_provided	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	.	0.2894	0.308706	0.3351	0.1905	0.5327	0.2606	0.2965	0.3211	0.3469	0.3980	0.331005	51174	154602	rs6030	0.3320	0.3320	0.3303	0.3337	0.5036	0.3312	0.3309	0.4981	0.4958	0.1908	0.5036	0.2433	0.2974	0.2961	0.3432	0.3294	0.3217	0.4015	0.2994	0.2996	0.2954	0.3036	0.4414	0.2971	0.2962	0.4325	0.4289	0.1962	0.1919	0.4414	0.2414	0.2702	0.2903	0.3129	0.3306	0.3275	0.4006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.799742	0.09333	N	0.908379	1	0.08975	P	-1.195	0.00846	N	-5.02	0.98562	D	0.77	0.01949	N	0.006	0.00044	-0.4336	0.70946	T	0.433	0.77400	T	9	0.00013938546	0.00010	T	.	.	.	0.230	0.53062	.	.	.	.	0.5774194888175482	0.57670	0.0874476088007	0.09862	0.202470511198	0.00532	T	0.012008	0.10625	T	-0.558879	0.00258	T	-0.431747	0.29737	T	0.00389668243981471	0.00041	T	0.0319468	0.00204	T	0.10963965	0.25921	0.15528889	0.36408	0.11500659	0.27143	0.10465255	0.25139	-1.936	0.02949	T	0.0630923633968402	0.01915	0.051	0.00195	B	.;.	.;.	-1.215408	0.00515	0.012	0.69920481567361925	0.09127	0.03239	0.08258	N	AEFGBCIJ	0.145810	0.26911	N	-1.46881193792389	0.02073	0.09117123	-1.39284912778787	0.03328	0.1549985	0.999997398089242	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.172119	0.04147	3	0.564101	0.26826	0	.	.	5.32	-2.86	0.05376	-2.274000	0.01245	-8.462000	0.00965	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0923:0.1961:0.2724:0.4392	3.252	0.06416	772	0.48957	.;.	ATP1B1	Testis	.	.	rs6030	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.324270	0.373737	0.269022	0.406433	0.250000	0.370690	0.277439	0.352273	0.4737	32470.2	115	chr1	169529737	.	T	C	32470.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.57;DP=1823;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=21.29;ReadPosRankSum=-0.598;SOR=0.71	GT:AD:DP:GQ:PL	0/1:43,72:115:99:1810,0,1054	7	6	6	0
chr1	176882938	176882938	T	G	exonic	ASTN1	.	nonsynonymous SNV	ASTN1:NM_001286164:exon20:c.A3283C:p.M1095L,ASTN1:NM_001364856:exon20:c.A3307C:p.M1103L,ASTN1:NM_004319:exon20:c.A3283C:p.M1095L,ASTN1:NM_207108:exon20:c.A3283C:p.M1095L	.	433	1079	10	0	0	10	0.00461255	.	.	.	432205	Abnormal_corpus_callosum_morphology|not_provided	Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.244	0.0219076341437	0.0028	0.00179712	0.0034	0.0002	0.0005	0.0001	0.0008	0.0042	0.0011	0.0074	0.0034152	528	154602	rs151246825	0.0038	0.0038	0.0037	0.0039	0.0073	0.0037	0.0037	0.0065	0.0063	0.0002	0.0013	0.0098	0	0.0009	0.0073	0.0039	0.0036	0.0069	0.0027	0.0027	0.0030	0.0025	0.0075	0.0025	0.0024	0.0056	0.0049	0.0006	0.0154	0.0010	0.0121	0	0.0006	0	0.0040	0.0038	0.0075	0.088	0.32453	T	0.462	0.12920	T	0.257	0.31412	B	0.557	0.49454	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.16	0.38073	T	-0.74	0.21215	N	0.626	0.73105	-0.8932	0.48650	T	0.149	0.47522	T	10	0.007880479	0.00179	T	0.021908	0.44740	T	0.244	0.55061	0.117	0.02508	0.372124015043	0.36827	0.4848574118172497	0.48405	0.549024000067	0.51818	0.6371986866	0.58165	T	0.047437	0.27724	T	-0.266181	0.12185	T	-0.144739	0.59705	T	0.039071109360196	0.03523	T	0.892511	0.62902	D	.	.	.	.	.	.	.	.	0.359	0.00303	T	.	.	0.200	0.47976	B	.;.;.	.;.;.	3.680631	0.52392	23.2	0.98164354846962953	0.38806	0.97791	0.77159	D	AEFBI	0.907875	0.86244	D	0.276562724713296	0.54964	3.660826	0.380292540366266	0.60350	4.221636	0.999999939014487	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	7.603000	0.82048	7.877000	0.72286	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.563	0.76010	678	0.60190	Fibronectin type III;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.005435	0.002924	0.000000	0.000000	0.012195	0.011364	0.02632	1942.33	170	chr1	176882938	.	T	G	1942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.879;DP=813;ExcessHet=0;FS=3.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.039;SOR=1.006	GT:AD:DP:GQ:PL	0/1:91,79:170:99:1956,0,2373	18	0	1	0
chr1	179551461	179551462	AT	-	intronic	AXDND1;NPHS2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	278593	Steroid-resistant_nephrotic_syndrome|not_provided|NPHS2-related_disorder	Human_Phenotype_Ontology:HP:0012588,MONDO:MONDO:0044765,MedGen:C0403397|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	2.482e-05	9.63e-05	0	0.0001	0	1.505e-05	0	0	1.94e-05	3	154602	rs774075788	3.766e-05	3.762e-05	4.633e-05	2.89e-05	0.0002	2.962e-05	2.658e-05	9.929e-05	7.225e-05	2.991e-05	2.236e-05	0	0.0002	0	0	3.597e-06	0.0006	2.321e-05	5.256e-05	5.253e-05	7.707e-05	2.69e-05	0.0010	2.557e-05	1.83e-05	0.0004	0.0002	2.413e-05	0	6.547e-05	0	0.0010	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3149.29	175	chr1	179551460	.	CAT	C	3149.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.888;DP=854;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18;ReadPosRankSum=1.37;SOR=0.7	GT:AD:DP:GQ:PL	0/1:93,82:175:99:3163,0,3633	18	0	1	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	467	200	364	491	0	1346	0.770905	1.0000	0.918	YES	249563	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified	MedGen:C3661900|MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	Benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.6053	27495.8	67	chr1	179889309	.	G	A	27495.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.264;DP=1439;ExcessHet=0.233;FS=0;InbreedingCoeff=0.229;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=21.62;ReadPosRankSum=-0.651;SOR=0.736	GT:AD:DP:GQ:PL	0/1:45,22:67:99:473,0,1036	4	8	7	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	207	250	453	612	0	1677	0.770326	.	.	YES	278205	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.631923	0.681818	0.582880	0.669591	0.500000	0.620690	0.606707	0.696970	0.5789	54755.1	207	chr1	196690107	.	C	T	54755.1	.	AC=22;AF=0.579;AN=38;BaseQRankSum=0.913;DP=2557;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.3523;MLEAC=22;MLEAF=0.579;MQ=59.96;MQRankSum=0;QD=23.47;ReadPosRankSum=0.71;SOR=0.683	GT:AD:DP:GQ:PL	1/1:0,207:207:99:6641,621,0	5	8	6	0
chr1	196743447	196743447	T	C	intronic	CFH	.	.	.	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	2	810	709	1	0	711	0.305019	0	0.028	.	865078	Age_related_macular_degeneration_4|Basal_laminar_drusen|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_specified|Atypical_hemolytic-uremic_syndrome|not_provided	MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN169374|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2585	0.2335	0.3236	0.3530	0.2551	0.2478	0.2636	0.2241	0.0001035	16	154602	rs513699	0.0899	0.2501	0.0919	0.0878	0.1935	0.0893	0.0891	0.1884	0.1864	0.0730	0.1344	0.0955	0.1935	0.1086	0.0549	0.0875	0.0860	0.0598	0.0293	0.1436	0.0285	0.0300	0.0485	0.0284	0.0280	0.0448	0.0434	0.0296	0.0038	0.0485	0.0263	0.0478	0.0280	0.0084	0.0251	0.0321	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	11863.2	279	chr1	196743447	.	T	C	11863.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.21;DP=2476;ExcessHet=4.0268;FS=6.012;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=57.5;MQRankSum=-15.45;QD=5.68;ReadPosRankSum=-2.013;SOR=1.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,68:279:99:0|1:196743447_T_C:2139,0,8481:196743447	11	0	8	0
chr1	204411104	204411104	T	C	exonic	PPP1R15B	.	nonsynonymous SNV	PPP1R15B:NM_032833:exon1:c.A308G:p.Y103C	Microcephaly, short stature, and impaired glucose metabolism 2, Autosomal recessive	433	1079	10	0	0	10	0.00461255	.	.	.	794546	not_provided|PPP1R15B-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.121	0.0331980629777	7.7e-05	.	0.0003	9.623e-05	0.0005	0	0.0002	0.0004	0	0.0002	0.0002911	45	154602	rs137955986	0.0003	0.0003	0.0002	0.0003	0.0016	0.0002	0.0002	0.0008	0.0006	5.974e-05	0.0007	0.0024	2.519e-05	1.872e-05	0.0016	0.0002	0.0006	0.0003	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0005	0.0004	2.412e-05	0	0.0009	0.0029	0	0	0	0.0002	0	0.0008	0.016	0.51853	D	0.009	0.66756	D	.	.	.	.	.	.	0.500819	0.05091	N	1.355950	1	0.08975	N	.	.	.	1.67	0.27331	T	-1.66	0.39692	N	0.248	0.28028	-1.0161	0.24980	T	0.086	0.33550	T	10	0.020056814	0.00456	T	0.033198	0.54812	D	0.121	0.33580	.	.	0.349647731962	0.34572	0.1330163085128156	0.13225	0.125560609771	0.14154	0.466323971748	0.34177	T	.	.	.	-0.387845	0.02777	T	-0.460739	0.26518	T	0.0161851847571509	0.00393	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10111	B	.	.	1.013240	0.13924	10.48	0.98216214413674363	0.39254	0.01608	0.05209	N	ALL	0.063313	0.12228	N	-0.562178692659855	0.20103	1.057337	-0.732287227893112	0.16158	0.8534703	0.999999972046289	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	5.12	1.04	0.19220	-0.171000	0.09872	-0.263000	0.10410	-0.157000	0.11712	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3286:0.0:0.1703:0.501	4.906	0.13151	622	0.65860	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1923.33	152	chr1	204411104	.	T	C	1923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=798;ExcessHet=0;FS=5.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=2.01;SOR=0.97	GT:AD:DP:GQ:PL	0/1:77,75:152:99:1937,0,1923	18	0	1	0
chr1	212895279	212895279	T	G	exonic	FLVCR1	.	nonsynonymous SNV	FLVCR1:NM_014053:exon10:c.T1657G:p.S553A	Ataxia, posterior column, with retinitis pigmentosa, Autosomal recessive	1	1515	5	1	0	7	0.00230491	.	.	.	280288	FLVCR1-related_disorder|Inborn_genetic_diseases|Retinal_dystrophy|not_specified|Posterior_column_ataxia-retinitis_pigmentosa_syndrome|not_provided	.|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033,Orphanet:88628|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.008	0.0451937785314	0.0008	0.000199681	0.0002	0.0016	8.664e-05	0	0	0	0	6.076e-05	0.0001746	27	154602	rs149887215	9.994e-05	9.987e-05	0.0001	9.081e-05	0.0025	8.651e-05	8.139e-05	0.0021	0.0019	0.0025	4.472e-05	0	2.522e-05	0	0.0010	7.2e-06	0.0007	2.319e-05	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0017	0.0016	0.0021	0	0.0003	0	0	0	0	1.47e-05	0	0	0.1	0.30515	T	0.076	0.42614	T	0.001	0.07471	B	0.003	0.08700	B	0.002856	0.35836	N	0.231325	0.995976	0.23150	N	1.79	0.46772	L	-1.64	0.82533	D	-0.36	0.13035	N	0.099	0.08088	-0.5943	0.65048	T	0.398	0.74995	T	10	0.007948965	0.00180	T	0.045194	0.61862	D	0.180	0.45073	.	.	0.900275580692	0.89928	0.39560674530606715	0.39475	0.172134640921	0.19387	0.396480590105	0.24579	T	0.057905	0.30695	T	-0.372336	0.03478	T	-0.320841	0.42484	T	0.0122809105882335	0.00199	T	0.351565	0.07865	T	0.039296318	0.05398	0.04790438	0.07002	0.039296318	0.05398	0.04790438	0.07001	-5.668	0.43408	T	.	.	0.067	0.02370	B	.	.	1.433024	0.18516	13.78	0.98445884948229523	0.41564	0.24092	0.22285	N	AEFGBI	0.037539	0.05178	N	-0.392181702084928	0.25746	1.399956	-0.321124694809052	0.27417	1.521206	0.0252489144287933	0.13635	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.39	3.03	0.34070	0.913000	0.28233	1.153000	0.24496	0.665000	0.62972	0.536000	0.27236	0.215000	0.23672	0.945000	0.48827	0.0:0.0894:0.1737:0.7369	5.542	0.16331	813	0.42397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1453.33	105	chr1	212895279	.	T	G	1453.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.344;DP=821;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.023;SOR=0.728	GT:AD:DP:GQ:PL	0/1:42,63:105:99:1467,0,999	18	0	1	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q	.	440	2	22	1058	0	2138	0.998133	.	.	YES	1704217	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	73654.4	149	chr1	226735804	.	G	T	73654.4	.	AC=38;AF=1;AN=38;BaseQRankSum=1.84;DP=2228;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=33.85;ReadPosRankSum=1.53;SOR=0.402	GT:AD:DP:GQ:PL	1/1:0,149:149:99:4916,447,0	0	19	0	0
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A	.	424	234	529	335	0	1199	0.719256	.	.	YES	1704219	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.5142	0.610423	0.5305	0.5845	0.7358	0.6685	0.4347	0.4720	0.5254	0.5623	0.50903	78697	154602	rs6667260	0.4825	0.4819	0.4809	0.4841	0.7102	0.4815	0.4811	0.7027	0.6996	0.5746	0.7102	0.5629	0.6813	0.4308	0.6177	0.4599	0.5103	0.5424	0.5227	0.5226	0.5220	0.5234	0.6711	0.5197	0.5184	0.6525	0.6449	0.5810	0.4967	0.6248	0.5700	0.6711	0.4299	0.6190	0.4617	0.5449	0.5568	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.982952	0.08082	N	0.990786	1	0.08975	P	-1.445	0.00556	N	2.07	0.20523	T	0.05	0.06369	N	0.012	0.00279	-0.9439	0.41992	T	0.000	0.00011	T	9	3.5098994e-06	0.00003	T	.	.	.	0.047	0.12962	.	.	.	.	0.05903511649592833	0.05844	0.161341295611	0.18212	0.352891504765	0.18347	T	0.023569	0.17967	T	-0.842882	0.00003	T	-0.839698	0.01103	T	0.0107150276910547	0.00151	T	0.0740926	0.00542	T	0.03752211	0.04827	0.026574247	0.00754	0.03752211	0.04827	0.026574247	0.00754	-4.077	0.24950	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-0.032082	0.04066	0.946	0.19618645798258003	0.00670	0.00108	0.00689	N	AEFBCI	0.019005	0.00622	N	-1.50554167816208	0.01813	0.07947133	-1.45024527399043	0.02768	0.1279108	0.999628074989162	0.41093	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.636168	0.56350	0	.	.	4.1	1.01	0.19044	-0.836000	0.04489	-0.357000	0.09702	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.324:0.3961:0.0:0.28	3.041	0.05767	845	0.36510	.;.;.	PSEN2|COQ8A|PSEN2|PSEN2|ITPKB|COQ8A	Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Whole_Blood|Whole_Blood	COQ8A|PSEN2	Adipose_Subcutaneous|Lung	rs6667260	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.625378	0.616162	0.653533	0.640351	0.700000	0.672414	0.628049	0.496212	0.4737	24135.2	90	chr1	226736237	.	A	C	24135.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.41;DP=1605;ExcessHet=1.9883;FS=1.834;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=19.22;ReadPosRankSum=0.395;SOR=0.86	GT:AD:DP:GQ:PL	0/1:63,27:90:99:758,0,1968	5	4	10	0
chr1	226736941	226736941	C	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.G518A:p.R173H	.	430	682	354	56	0	466	0.254645	.	.	.	1704218	not_specified|Myeloproliferative_neoplasm,_unclassifiable	MedGen:CN169374|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.056	.	0.1800	0.227037	0.2073	0.1738	0.3185	0.3280	0.1558	0.1880	0.1973	0.1848	0.19979	30888	154602	rs3754415	0.1881	0.1880	0.1884	0.1878	0.3351	0.1875	0.1873	0.3303	0.3283	0.1707	0.2966	0.2663	0.3351	0.1548	0.2880	0.1782	0.1943	0.1838	0.1865	0.1867	0.1856	0.1874	0.3138	0.1847	0.1839	0.3011	0.2959	0.1682	0.1151	0.2325	0.2674	0.3138	0.1523	0.3333	0.1781	0.2009	0.1956	0.032	0.44694	D	0.02	0.58613	D	0.946	0.53363	P	0.224	0.37970	B	0.000055	0.53742	D	0.000000	0.418022	0.32383	P	0.895	0.22405	L	1.24	0.37746	T	-0.65	0.47514	N	0.124	0.34981	-0.9584	0.39479	T	0.000	0.00011	T	9	0.0021621883	0.00031	T	.	.	.	0.056	0.15993	.	.	.	.	0.23406785644181313	0.23321	0.861550697469	0.68985	0.704100191593	0.67737	T	0.12802	0.45541	T	-0.616075	0.00116	T	-0.513906	0.20915	T	0.0266560751426077	0.01496	T	0.835916	0.50694	T	0.114855304	0.27110	0.07389491	0.16108	0.114855304	0.27110	0.07389491	0.16108	-5.753	0.44163	T	.	.	0.218	0.47976	B	.;.;.	.;.;.	5.064409	0.84424	28.3	0.9994872816168342	0.99931	0.74930	0.36668	D	AEFDBCI	0.356379	0.44778	N	0.214153401976771	0.51885	3.366394	0.283554889984617	0.54579	3.622453	0.999998532014926	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.6	4.6	0.56512	1.881000	0.39273	5.847000	0.50302	0.599000	0.40250	0.765000	0.29300	1.000000	0.68203	0.991000	0.66497	0.0:0.8609:0.0:0.1391	9.190	0.36357	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	.	.	rs3754415	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.286002	0.292929	0.293478	0.339181	0.250000	0.267241	0.304878	0.185606	0.1579	12064.4	139	chr1	226736941	.	C	T	12064.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-1.175;DP=1496;ExcessHet=0.1504;FS=35.966;InbreedingCoeff=0.2083;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=19.75;ReadPosRankSum=-0.487;SOR=0.083	GT:AD:DP:GQ:PL	0/1:49,90:139:99:2370,0,1143	14	1	4	0
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	not_provided|Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG	MedGen:C3661900|MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7981.5	40	chr1	236897645	.	CT	C	7981.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.177;DP=1587;ExcessHet=22.3492;FS=0.549;InbreedingCoeff=-0.6784;MLEAC=18;MLEAF=0.474;MQ=59.99;MQRankSum=0;QD=7.76;ReadPosRankSum=0.087;SOR=0.638	GT:AD:DP:GQ:PL	0/1:31,6:40:34:34,0,699	2	2	15	0
chr1	237833281	237833281	-	A	UTR3	RYR2	NM_001035:c.*634_*635insA	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	1408	66	5	15	28	63	0.209581	.	.	.	280387	not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs377407067	0.2755	0.0041	0.2917	0.2703	.	0.1945	0.1673	.	.	.	.	.	.	0.2812	.	.	0	.	0.4582	0.4444	0.4668	0.4482	0.5296	0.4549	0.4535	0.5246	0.5225	0.3777	0.5124	0.3661	0.6708	0.0836	0.4726	0.6667	0.5296	0.4907	0.3968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	4921.59	12	chr1	237833281	.	G	GA	4921.59	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.027;DP=481;ExcessHet=2.8292;FS=3.582;InbreedingCoeff=-0.0917;MLEAC=20;MLEAF=0.526;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=-0.165;SOR=0.992	GT:AD:DP:GQ:PL	0/1:6,6:12:99:123,0,111	2	3	14	0
chr1	241500602	241500602	-	GAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281822	Hereditary_cancer-predisposing_syndrome|Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197364	5137	26028	rs144131869	0.2390	0.2461	0.2382	0.2398	0.2745	0.2383	0.2380	0.2714	0.2702	0.1455	0.2328	0.2278	0.1589	0.2024	0.2171	0.2445	0.2281	0.2745	0.2551	0.2521	0.2543	0.2559	0.3681	0.2528	0.2519	0.3526	0.3463	0.1524	0.2864	0.3169	0.2763	0.1697	0.2757	0.2852	0.2931	0.2723	0.3681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	12226.9	7	chr1	241500602	.	T	TGAGA	12226.9	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-0.478;DP=964;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.1668;MLEAC=12;MLEAF=0.333;MQ=59.98;MQRankSum=0;QD=31.68;ReadPosRankSum=-0.129;SOR=0.741	GT:AD:DP:GQ:PL	0/1:1,6:7:25:248,0,25	7	1	10	1
chr1	247425556	247425556	C	A	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_001127461:exon4:c.C2107A:p.Q703K,NLRP3:NM_001127462:exon4:c.C2107A:p.Q703K,NLRP3:NM_001243133:exon4:c.C2107A:p.Q703K,NLRP3:NM_004895:exon4:c.C2113A:p.Q705K,NLRP3:NM_183395:exon4:c.C2107A:p.Q703K,NLRP3:NM_001079821:exon5:c.C2107A:p.Q703K	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	2	1361	147	12	0	171	0.0591082	.	.	.	249858	Autoinflammatory_syndrome|Focal_segmental_glomerulosclerosis|Cryopyrin_associated_periodic_syndrome|Familial_cold_autoinflammatory_syndrome_1|Familial_amyloid_nephropathy_with_urticaria_AND_deafness|Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|not_specified|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	.	0.0348	0.0223642	0.0409	0.0103	0.0174	0.0023	0.0455	0.0554	0.0475	0.0364	0.0401806	6212	154602	rs35829419	0.0444	0.0444	0.0443	0.0444	0.0567	0.0441	0.0440	0.0516	0.0496	0.0093	0.0195	0.0648	0.0018	0.0485	0.0567	0.0480	0.0407	0.0374	0.0328	0.0328	0.0331	0.0325	0.0466	0.0320	0.0317	0.0452	0.0447	0.0099	0.0462	0.0235	0.0678	0.0015	0.0475	0.0510	0.0466	0.0383	0.0357	0.233	0.18956	T	0.581	0.13252	T	0.137	0.27402	B	0.022	0.19653	B	0.001058	0.00730	N	3.339880	1	0.08975	N	.	.	.	-2.37	0.88220	D	0.2	0.09135	N	0.105	0.14196	-0.7308	0.58923	T	0.119	0.41735	T	10	0.0027211607	0.00042	T	.	.	.	0.162	0.41843	.	.	.	.	0.3650717210622987	0.36421	0.593062829215	0.54674	0.258289754391	0.04689	T	0.174501	0.52374	T	-0.409931	0.01990	T	-0.323629	0.42176	T	0.00282959321631737	0.00030	T	0.688631	0.30243	T	0.09577053	0.22545	0.052836567	0.08782	0.09882642	0.23315	0.043405045	0.05393	-3.791	0.21328	T	.	.	0.077	0.07272	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.163191	0.03284	0.564	0.26450865337110768	0.01267	0.06425	0.12430	N	AEFDBCI	0.060385	0.11471	N	-1.18329923690612	0.05252	0.2389972	-1.24906822791398	0.05144	0.2444453	0.99871367089653	0.37518	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.49	-0.977	0.09757	-0.197000	0.09519	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2024:0.365:0.3221:0.1105	2.255	0.03805	889	0.27310	.;.;.;.;.;.;.;.	ZNF496	Skin_Sun_Exposed_Lower_leg	.	.	.	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	0.039778	0.040404	0.035326	0.038012	0.050000	0.017241	0.048780	0.034091	0.07895	14872.8	334	chr1	247425556	.	C	A	14872.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.263;DP=1449;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=24.79;ReadPosRankSum=-1.304;SOR=0.715	GT:AD:DP:GQ:PL	1/1:0,334:334:99:11182,1003,0	17	1	1	0
chr2	26454684	26454684	C	T	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon15:c.C1957T:p.R653C	Ciliary dyskinesia, primary, 21, Autosomal recessive	422	1088	11	1	0	13	0.00593878	.	.	.	686174	Inborn_genetic_diseases|Primary_ciliary_dyskinesia|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.058	0.0133825133334	.	.	0.0005	9.614e-05	0.0003	0	0.0002	7.497e-05	0.0022	0.0028	0.0003881	60	154602	rs139106371	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	8.944e-05	0	7.557e-05	7.489e-05	0.0016	4.766e-05	0.0003	0.0027	0.0001	0.0001	0.0001	0.0001	0.0017	9.149e-05	7.704e-05	0.0008	0.0006	2.408e-05	0	0.0004	0	0	0	0	8.823e-05	0	0.0017	0.014	0.53172	D	0.001	0.83351	D	1.0	0.90584	D	0.911	0.64720	D	0.009340	0.30410	N	0.322809	0.999917	0.19599	N	2.485	0.72352	M	2.1	0.19990	T	-5.28	0.84246	D	0.339	0.38027	-1.0215	0.23227	T	0.114	0.40672	T	10	0.020758808	0.00484	T	0.013383	0.32738	T	0.058	0.16647	0.567	0.68901	0.253205268125	0.24938	0.36535253999707445	0.36449	0.119650521778	0.13479	0.320220708847	0.13455	T	0.069858	0.33814	T	-0.478787	0.00752	T	-0.464512	0.26109	T	0.0857806656965326	0.10709	T	0.666133	0.27528	T	0.10670609	0.25230	0.13347591	0.32006	0.09847987	0.23229	0.10094992	0.24151	-6.006	0.46330	T	.	.	0.191	0.40968	B	.	.	2.494027	0.32184	18.97	0.99434719438662533	0.64472	0.21337	0.21366	N	AEFBI	0.171622	0.29860	N	-0.293906595048252	0.29384	1.628939	-0.513926226274047	0.21774	1.179546	0.995272016818871	0.34040	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.15	2.31	0.27816	0.423000	0.21032	1.629000	0.27729	-1.642000	0.00838	0.097000	0.22731	0.151000	0.23179	0.000000	0.00833	0.1383:0.7107:0.0:0.1509	7.164	0.24855	416	0.81733	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1775.33	146	chr2	26454684	.	C	T	1775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.578;DP=781;ExcessHet=0;FS=6.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.603;SOR=0.513	GT:AD:DP:GQ:PL	0/1:73,73:146:99:1789,0,1817	18	0	1	0
chr2	38071276	38071276	A	G	exonic	CYP1B1	.	synonymous SNV	CYP1B1:NM_000104:exon3:c.T1078C:p.L360L	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	YES	691154	Glaucoma_3A|not_provided|Congenital_glaucoma|Irido-corneo-trabecular_dysgenesis	MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MedGen:C3661900|MONDO:MONDO:0020366,MedGen:C0020302|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0010	0.00159744	0.0009	0.0012	0.0018	0	0	0.0011	0.0023	0.0002	0.0009896	153	154602	rs141245683	0.0007	0.0007	0.0007	0.0007	0.0061	0.0007	0.0007	0.0045	0.0039	0.0023	0.0019	0.0035	0	1.912e-05	0.0061	0.0006	0.0019	0.0002	0.0012	0.0012	0.0012	0.0012	0.0029	0.0011	0.0010	0.0023	0.0020	0.0015	0	0.0029	0.0046	0.0002	0	0.0034	0.0007	0.0043	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	0.013131	0.025253	0.016304	0.014620	0.000000	0.008621	0.003067	0.003817	0.02632	4311.33	325	chr2	38071276	.	A	G	4311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.511;DP=1069;ExcessHet=0;FS=2.44;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.027;SOR=0.559	GT:AD:DP:GQ:PL	0/1:146,179:325:99:4325,0,3529	18	0	1	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I	Cystinuria, Autosomal recessive, Autosomal dominant	1	171	630	720	0	2070	0.858209	.	.	YES	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.646632	0.560606	0.637228	0.608392	0.700000	0.698276	0.698171	0.674242	0.7105	59601.6	170	chr2	44320435	.	G	A	59601.6	.	AC=27;AF=0.711;AN=38;BaseQRankSum=-1.741;DP=2554;ExcessHet=0.5777;FS=2.192;InbreedingCoeff=0.1044;MLEAC=27;MLEAF=0.711;MQ=60;MQRankSum=0;QD=24.75;ReadPosRankSum=-0.248;SOR=0.901	GT:AD:DP:GQ:PL	1/1:0,170:170:99:5537,510,0	2	10	7	0
chr2	61842347	61842347	G	A	exonic	FAM161A	.	nonsynonymous SNV	FAM161A:NM_001201543:exon2:c.C197T:p.T66I,FAM161A:NM_032180:exon2:c.C197T:p.T66I	Retinitis pigmentosa 28	2	1463	52	5	0	62	0.0207497	.	.	.	177215	Retinitis_pigmentosa_28|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0011630,MedGen:C1419614,OMIM:606068,Orphanet:791|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	.	0.0046	0.00259585	0.0071	0.0006	0.0059	0.0008	0.0012	0.0085	0.0114	0.0095	0.0031953	494	154602	rs145199539	0.0046	0.0046	0.0043	0.0049	0.0102	0.0045	0.0045	0.0091	0.0089	0.0007	0.0027	0.0112	5.466e-05	0.0004	0.0102	0.0045	0.0061	0.0097	0.0040	0.0040	0.0039	0.0041	0.0101	0.0037	0.0036	0.0079	0.0071	0.0009	0.0011	0.0031	0.0135	0	0.0005	0.0374	0.0058	0.0066	0.0101	0.019	0.50132	D	0.062	0.45318	T	0.011	0.44504	B	0.008	0.37734	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	2.68	0.24285	T	-2.18	0.49187	N	0.078	0.05287	-1.0619	0.11288	T	0.022	0.09375	T	9	0.0030406117	0.00050	T	.	.	.	0.014	0.01968	.	.	0.363751660372	0.35992	0.14157861444279105	0.14080	0.0714086533322	0.07995	0.338148593903	0.16161	T	0.002975	0.02370	T	-0.530655	0.00381	T	-0.525631	0.19726	T	0.00501362561801803	0.00054	T	0.643236	0.25495	T	0.068116926	0.14811	0.09173052	0.21581	0.07244453	0.16115	0.099932946	0.23875	-3.236	0.12926	T	0.2690281736431292	0.36221	0.118	0.30868	B	.;.	.;.	1.544181	0.19798	14.44	0.98790717046779686	0.46285	0.36536	0.25555	N	AEFBI	0.076526	0.15397	N	-0.372894268626194	0.26438	1.442932	-0.288800390096853	0.28466	1.587427	2.3214731630198E-4	0.06095	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.43	2.64	0.30504	1.342000	0.33524	0.686000	0.20722	0.676000	0.76740	0.076000	0.22236	0.984000	0.30665	0.952000	0.50033	0.2517:0.0:0.5967:0.1516	4.634	0.11902	260	0.89800	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.008665	0.005102	0.002747	0.000000	0.000000	0.017857	0.031056	0.003817	0.07895	2425.79	67	chr2	61842347	.	G	A	2425.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.545;DP=776;ExcessHet=0.3672;FS=1.17;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.192;SOR=0.582	GT:AD:DP:GQ:PL	0/1:32,35:67:99:845,0,773	16	0	3	0
chr2	69326244	69326244	A	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	290634	Congenital_myasthenic_syndrome_12|not_provided|not_specified|Congenital_Myasthenic_Syndrome,_Recessive	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900|MedGen:CN169374|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.5003	0.5725	0.4843	0.3357	0.5331	0.5252	0.4928	0.4503	0.0001537	4	26028	rs201330278	0.4721	0.4795	0.4728	0.4714	0.5446	0.4710	0.4706	0.5371	0.5340	0.5446	0.4487	0.5008	0.2970	0.4755	0.5037	0.4796	0.4730	0.4329	0.6332	0.6282	0.6394	0.6266	0.7813	0.6298	0.6283	0.7741	0.7711	0.7813	0.6810	0.5747	0.6455	0.3023	0.5629	0.6418	0.5950	0.6144	0.5344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	14153.8	45	chr2	69326243	.	GA	G	14153.8	.	AC=22;AF=0.579;AN=38;BaseQRankSum=0.541;DP=1148;ExcessHet=0.5308;FS=0;InbreedingCoeff=0.1634;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=0.436;SOR=0.712	GT:AD:DP:GQ:PL	1/1:2,43:45:82:1087,82,0	4	7	8	0
chr2	71644058	71644058	C	T	exonic	DYSF	.	synonymous SNV	DYSF:NM_001130976:exon40:c.C4462T:p.L1488L,DYSF:NM_001130986:exon40:c.C4465T:p.L1489L,DYSF:NM_001130455:exon41:c.C4507T:p.L1503L,DYSF:NM_001130977:exon41:c.C4525T:p.L1509L,DYSF:NM_001130980:exon41:c.C4555T:p.L1519L,DYSF:NM_001130984:exon41:c.C4528T:p.L1510L,DYSF:NM_001130985:exon41:c.C4558T:p.L1520L,DYSF:NM_003494:exon41:c.C4504T:p.L1502L,DYSF:NM_001130978:exon42:c.C4567T:p.L1523L,DYSF:NM_001130979:exon42:c.C4597T:p.L1533L,DYSF:NM_001130981:exon42:c.C4618T:p.L1540L,DYSF:NM_001130982:exon42:c.C4600T:p.L1534L,DYSF:NM_001130983:exon42:c.C4570T:p.L1524L,DYSF:NM_001130987:exon42:c.C4621T:p.L1541L	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	1	1393	121	7	0	135	0.046217	.	.	.	100225	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Qualitative_or_quantitative_defects_of_dysferlin|not_specified|Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_muscular_dystrophy_1|Miyoshi_myopathy	MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN169374|MedGen:CN239352|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0076	0.00858626	0.0107	0.0101	0.0064	0.0001	0.0046	0.0109	0.0061	0.0209	0.0081694	1263	154602	rs7573406	0.0082	0.0083	0.0078	0.0086	0.0328	0.0081	0.0081	0.0290	0.0275	0.0077	0.0069	0.0096	0	0.0035	0.0328	0.0079	0.0104	0.0170	0.0081	0.0082	0.0084	0.0078	0.0145	0.0078	0.0076	0.0118	0.0108	0.0080	0	0.0088	0.0072	0.0002	0.0023	0.0340	0.0091	0.0123	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.025706	0.020202	0.027174	0.020468	0.000000	0.017241	0.036810	0.015152	0.05263	2411.83	91	chr2	71644058	.	C	T	2411.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.08;DP=871;ExcessHet=0.119;FS=0.56;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.176;SOR=0.768	GT:AD:DP:GQ:PL	0/1:51,40:91:99:994,0,1212	17	0	2	0
chr2	73385903	73385903	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.35_36insGGAGGA:p.E28_A29insEE,ALMS1:NM_015120:exon1:c.35_36insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	215261	not_specified|Alstrom_syndrome|not_provided|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs193922695	0.0632	0.0483	0.0617	0.0645	0.1063	0.0626	0.0624	0.1033	0.1021	0.0218	0.1063	0.0554	0.0749	0.0494	0.0665	0.0566	0.0607	0.0967	0.0594	0.0601	0.0569	0.0622	0.1116	0.0584	0.0580	0.1033	0.1000	0.0227	0	0.1047	0.0698	0.0753	0.0617	0.0602	0.0672	0.0589	0.1116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	26989.6	33	chr2	73385903	.	T	TGGAGGA	26989.6	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.617;DP=903;ExcessHet=1.3;FS=3.645;InbreedingCoeff=-0.149;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=34.25;ReadPosRankSum=-0.523;SOR=1.337	GT:AD:DP:GQ:PL	0/1:0,17:33:99:1335,656,605	13	1	5	0
chr2	85550733	85550733	G	T	exonic	GGCX	.	nonsynonymous SNV	GGCX:NM_001142269:exon13:c.C1735A:p.P579T,GGCX:NM_000821:exon14:c.C1906A:p.P636T	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency;Vitamin K-dependent clotting factors, combined deficiency of, 1, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	287409	not_provided|Vitamin_K-dependent_clotting_factors,_combined_deficiency_of,_type_1|Body_skin_hyperlaxity_due_to_vitamin_K-dependent_coagulation_factor_deficiency|GGCX-related_disorder	MedGen:C3661900|MONDO:MONDO:0010187,MedGen:C1848534,OMIM:277450,Orphanet:98434|MONDO:MONDO:0012570,MedGen:C1835813,OMIM:610842,Orphanet:91135|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.146	0.0471386177847	0.0012	0.000599042	0.0009	0.0002	0.0009	0	0	0.0013	0.0044	0.0003	0.0008603	133	154602	rs61733105	0.0008	0.0008	0.0008	0.0008	0.0126	0.0008	0.0007	0.0102	0.0094	0.0003	0.0019	0.0064	2.519e-05	0.0001	0.0126	0.0007	0.0015	0.0003	0.0014	0.0014	0.0013	0.0015	0.0068	0.0012	0.0011	0.0057	0.0053	0.0003	0	0.0068	0.0055	0	0.0003	0.0204	0.0009	0.0019	0.0002	0.01	0.56456	D	0.039	0.51737	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.43	0.70455	M	1.56	0.29602	T	-2.0	0.46146	N	0.544	0.57092	-0.7714	0.56781	T	0.208	0.56676	T	10	0.009128422	0.00206	T	0.047139	0.62782	D	0.146	0.38789	.	.	0.351830644314	0.34792	0.5763554698397407	0.57564	1.01389843922	0.74865	0.572177171707	0.48986	T	0.12056	0.44288	T	-0.151149	0.28131	T	0.00363255	0.70570	D	0.0432210997207127	0.04278	T	0.89771	0.64209	D	0.30495334	0.53345	0.22007027	0.46769	0.292351	0.52210	0.2105526	0.45445	-5.694	0.43640	T	0.6604570120523879	0.73387	0.103	0.19073	B	.;.	.;.	4.511141	0.70647	25.6	0.99673825937048144	0.78782	0.97373	0.74339	D	AEFDBCIJ	0.725842	0.67470	D	0.806940358747134	0.86540	8.917855	0.802862888699582	0.89990	10.20908	0.999999999999991	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.66	5.66	0.87293	6.660000	0.74263	8.638000	0.77881	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.614	0.87965	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	591.33	46	chr2	85550733	.	G	T	591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.113;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.385;SOR=0.693	GT:AD:DP:GQ:PL	0/1:23,23:46:99:605,0,649	18	0	1	0
chr2	111898795	111898795	A	T	exonic	MERTK	.	nonsynonymous SNV	MERTK:NM_006343:exon1:c.A60T:p.R20S	Retinitis pigmentosa 38, Autosomal recessive	3	1384	130	5	0	140	0.0481431	0.0881	0.37	YES	101271	not_provided|Retinitis_pigmentosa|Retinitis_pigmentosa_38|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0013469,MedGen:C3151228,OMIM:613862,Orphanet:791|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.076	.	0.0351	0.0173722	0.0547	0.0106	0.0446	0	0.0533	0.0823	0.0814	0.0175	0.0004226	11	26028	rs35898499	0.0414	0.0413	0.0416	0.0413	0.0743	0.0411	0.0410	0.0685	0.0662	0.0072	0.0263	0.1227	7.749e-05	0.0291	0.0743	0.0448	0.0454	0.0147	0.0332	0.0332	0.0349	0.0313	0.0495	0.0324	0.0321	0.0481	0.0475	0.0082	0.0559	0.0272	0.1168	0.0006	0.0275	0.0918	0.0495	0.0393	0.0139	0.166	0.23183	T	0.563	0.09022	T	0.009	0.15093	B	0.003	0.08700	B	.	.	.	.	1	0.81001	D	0.895	0.22405	L	-0.84	0.74265	T	-0.28	0.11547	N	0.077	0.10769	-1.0596	0.11855	T	0.034	0.14509	T	9	0.0017398	0.00022	T	.	.	.	0.076	0.22200	0.263	0.20788	.	.	0.21918939670006904	0.21834	0.149256190456	0.16829	0.403281629086	0.25526	T	0.084614	0.37317	T	-0.495227	0.00608	T	-0.448366	0.27878	T	0.00270378042857692	0.00028	T	0.310469	0.06031	T	0.06409369	0.13562	0.08513254	0.19634	0.10521485	0.24875	0.081631504	0.18567	-2.741	0.07654	T	.	.	0.124	0.26200	B	.;.	.;.	1.595137	0.20400	14.73	0.7788550026829324	0.12064	0.56512	0.30136	D	AEFDBHCIJ	0.087493	0.17741	N	-0.75689593087658	0.14446	0.7196954	-0.687233178443102	0.17280	0.9180937	0.999999522955927	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	3.57	2.34	0.28071	0.757000	0.26098	1.960000	0.29933	0.683000	0.82448	0.712000	0.28742	0.984000	0.30665	0.036000	0.13842	0.8402:0.0:0.1598:0.0	4.999	0.13601	750	0.51762	.;.	MERTK|TMEM87B|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|TMEM87B|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|TMEM87B|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK|MERTK	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Kidney_Cortex|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Uterus|Vagina|Whole_Blood	MERTK|MERTK	Esophagus_Gastroesophageal_Junction|Stomach	rs35898499	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.076176	0.069149	0.086066	0.094118	0.222222	0.122807	0.062893	0.034091	0.07895	1687.79	37	chr2	111898795	.	A	T	1687.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.215;DP=681;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.945;SOR=0.733	GT:AD:DP:GQ:PL	0/1:22,15:37:99:312,0,495	16	0	3	0
chr2	113063003	113063003	C	A	UTR3	IL36RN	NM_173170:c.*326C>A;NM_012275:c.*326C>A	.	.	Psoriasis 14, pustular, Autosomal recessive	1153	102	28	239	0	506	0.712676	.	.	.	283612	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.641694	16702	26028	rs2515402	0.6503	0.5392	0.6312	0.6662	0.7952	0.6475	0.6464	0.7882	0.7853	0.7079	0.6852	0.6657	0.7045	0.6007	0.7372	0.5959	0.6436	0.7952	0.6523	0.6524	0.6493	0.6555	0.8017	0.6489	0.6475	0.7806	0.7720	0.7070	0.7582	0.6634	0.6888	0.7075	0.6290	0.7381	0.6006	0.6879	0.8017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.8	823.76	2	chr2	113063003	.	C	A	823.76	.	AC=16;AF=0.8;AN=20;DP=30;ExcessHet=0;FS=0;InbreedingCoeff=0.4692;MLEAC=23;MLEAF=1;MQ=60;QD=32.51;SOR=0.99	GT:AD:DP:GQ:PL	1/1:0,2:2:6:85,6,0	2	8	0	9
chr2	151494220	151494220	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon141:c.G18916A:p.A6306T,NEB:NM_001164507:exon174:c.G24520A:p.A8174T,NEB:NM_001164508:exon174:c.G24520A:p.A8174T,NEB:NM_001271208:exon175:c.G24625A:p.A8209T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	268544	Nemaline_myopathy_2|NEB-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.101	0.0137481650275	0.0002	0.000199681	0.0005	0.0002	0.0004	0.0008	0.0005	0.0007	0	9.295e-05	0.0002781	43	154602	rs199937246	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0001	0.0010	0.0009	0	0.0002	0.0021	0.0013	0.0002	0.0017	8.127e-05	0.0002	0.0001	0.0002	0.0002	0.0001	0.0003	0.0006	0.0001	0.0001	0.0003	0.0002	2.407e-05	0	0.0005	0.0014	0.0006	0.0002	0.0034	0.0001	0	0	0.518	0.22053	T	0.021	0.58089	D	0.441	0.35913	B	0.295	0.40843	B	0.000230	0.47286	U	0.000000	0.999779	0.25682	N	1.32	0.33002	L	3.41	0.06762	T	-0.51	0.18248	N	0.236	0.39659	-1.0309	0.20163	T	0.083	0.32556	T	10	0.01606229	0.00338	T	0.013748	0.33388	T	0.101	0.28911	.	.	0.254244900254	0.25046	0.3045127982899019	0.30364	0.0589775743183	0.06548	0.593151688576	0.51938	T	0.007275	0.42647	T	-0.468076	0.00874	T	-0.551554	0.17178	T	0.0387018168484422	0.03457	T	0.0378962	0.00365	T	0.042454317	0.06440	0.07351266	0.15982	0.042454317	0.06440	0.07351266	0.15982	-4.378	0.29257	T	.	.	0.078	0.06849	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.510739	0.49159	22.7	0.99081564706982561	0.51978	0.89506	0.50014	D	AEFGBI	0.395881	0.47257	N	-0.00303373769510563	0.41719	2.500405	0.120164528702445	0.45583	2.818768	0.710884306126665	0.22818	0.615465	0.37627	0	0.588015	0.36545	0	0.608075	0.38828	0	0.655142	0.61905	0	.	.	5.96	5.09	0.68647	4.647000	0.61115	.	.	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0663:0.1236:0.8101:0.0	11.822	0.51521	800	0.44535	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	2444.83	114	chr2	151494220	.	C	T	2444.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.33;DP=815;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.492;SOR=0.679	GT:AD:DP:GQ:PL	0/1:61,53:114:99:1283,0,1375	17	0	2	0
chr2	151546001	151546001	-	A	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	282777	not_specified|Nemaline_myopathy_2|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2521	0.1709	0.2716	0.2475	0.2950	0.2447	0.2589	0.2849	0.0001921	5	26028	rs762865768	0.2760	0.2628	0.2762	0.2759	0.3185	0.2751	0.2747	0.3132	0.3111	0.2337	0.3066	0.2747	0.3185	0.2903	0.2933	0.2740	0.2796	0.2642	0.2606	0.2606	0.2567	0.2647	0.3671	0.2583	0.2574	0.3587	0.3552	0.1876	0.2989	0.3671	0.2638	0.3220	0.2881	0.2862	0.2731	0.2600	0.2294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	5687.97	23	chr2	151546001	.	T	TA	5687.97	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.343;DP=1231;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=-0.185;SOR=0.727	GT:AD:DP:GQ:PL	1/0:5,9:23:56:278,56,95	3	0	16	0
chr2	151546001	151546001	-	AA	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	284391	not_specified|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1440	0.0604	0.1574	0.115	0.1876	0.1587	0.1786	0.1441	0.0003458	9	26028	rs762865768	0.2258	0.2310	0.2267	0.2250	0.2483	0.2249	0.2246	0.2429	0.2407	0.0953	0.2483	0.1663	0.2286	0.2610	0.2082	0.2370	0.2191	0.1566	0.2744	0.2754	0.2758	0.2730	0.3541	0.2721	0.2712	0.3503	0.3487	0.1258	0.1437	0.2926	0.2221	0.2815	0.3645	0.2993	0.3541	0.2795	0.2023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	5687.97	23	chr2	151546001	.	T	TAA	5687.97	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.343;DP=1231;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=-0.185;SOR=0.727	GT:AD:DP:GQ:PL	0/1:5,7:23:56:278,70,179	13	0	6	0
chr2	167251237	167251237	A	G	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001199144:exon7:c.A9179G:p.H3060R,XIRP2:NM_152381:exon9:c.A9845G:p.H3282R	.	432	1087	3	0	0	3	0.00137804	.	.	.	777158	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.012	0.00239804226469	0.0007	0.000399361	0.0009	0.0003	0.0011	0	0.0002	0.0013	0.0011	0.0002	0.0008797	136	154602	rs190407445	0.0013	0.0013	0.0012	0.0013	0.0014	0.0012	0.0012	0.0013	0.0013	0.0004	0.0009	0.0048	0	5.623e-05	0.0009	0.0014	0.0018	0.0002	0.0008	0.0008	0.0008	0.0009	0.0012	0.0007	0.0007	0.0010	0.0009	0.0005	0	0.0005	0.0046	0	0	0.0068	0.0012	0	0.0002	0.213	0.19430	T	0.462	0.12526	T	0.0	0.02946	B	0.0	0.01387	B	0.132073	0.02816	N	1.577760	1	0.08975	N	0.315	0.10303	N	4.5	0.02032	T	-0.06	0.07882	N	0.017	0.00226	-0.9354	0.43333	T	0.004	0.01330	T	10	0.0038044453	0.00071	T	0.002398	0.04701	T	0.012	0.01476	.	.	0.0138822411134	0.00435	0.13998587036779928	0.13921	0.0206115458999	0.02030	0.196560412645	0.00364	T	0.010909	0.09797	T	-0.76173	0.00015	T	-0.872807	0.00716	T	0.00918257481234837	0.00116	T	0.391261	0.09725	T	0.017636936	0.00289	0.033234306	0.02184	0.017636936	0.00289	0.033234306	0.02184	-2.574	0.06308	T	.	.	0.064	0.02012	B	.;.;.;.	.;.;.;.	-2.146358	0.00073	0.001	0.10214799386380036	0.00123	0.00127	0.00790	N	AEFBI	0.036174	0.04777	N	-2.24821254456091	0.00060	0.002559707	-2.2852922434339	0.00072	0.003146624	0.999580889778123	0.40607	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.67	-9.31	0.00548	-0.296000	0.08323	-1.802000	0.04699	-0.906000	0.02296	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4647:0.2969:0.2384:0.0	9.249	0.36703	590	0.68897	.;.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2168.33	200	chr2	167251237	.	A	G	2168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.052;DP=1323;ExcessHet=0;FS=3.228;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.714;SOR=0.955	GT:AD:DP:GQ:PL	0/1:111,89:200:99:2182,0,2930	18	0	1	0
chr2	169289151	169289151	C	T	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	0	1386	130	6	0	142	0.0487303	0	0.008	.	134991	not_specified|not_provided|Donnai-Barrow_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0058	0.0117812	0.0116	0.0015	0.0086	0.0001	0.0021	0.0088	0.0166	0.0410	0.0107955	1669	154602	rs144147038	0.0097	0.0097	0.0085	0.0109	0.0572	0.0096	0.0095	0.0521	0.0502	0.0016	0.0078	0.0287	2.52e-05	0.0022	0.0572	0.0076	0.0120	0.0401	0.0073	0.0073	0.0066	0.0080	0.0360	0.0069	0.0068	0.0316	0.0299	0.0015	0	0.0076	0.0311	0.0002	0.0030	0.0544	0.0085	0.0099	0.0360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2386.83	90	chr2	169289151	.	C	T	2386.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.55;DP=775;ExcessHet=0.119;FS=1.215;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.782;SOR=0.568	GT:AD:DP:GQ:PL	0/1:35,55:90:99:1266,0,695	17	0	2	0
chr2	174750181	174750181	A	-	intronic	CHRNA1	.	.	.	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 1A, slow-channel, Autosomal dominant;Myasthenic syndrome, congenital, 1B, fast-channel, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	285836	Congenital_Myasthenic_Syndrome,_Dominant/Recessive|not_provided|Autosomal_recessive_multiple_pterygium_syndrome	MedGen:CN239246|MedGen:C3661900|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1009	0.2306	0.0531	0.0740	0.0576	0.0815	0.1098	0.1662	0.0003842	10	26028	rs67309103	0.1040	0.1178	0.1022	0.1057	0.2650	0.1035	0.1033	0.2601	0.2580	0.2650	0.0637	0.0864	0.1054	0.0524	0.1415	0.0962	0.1146	0.1809	0.1411	0.1427	0.1412	0.1409	0.3022	0.1394	0.1388	0.2976	0.2958	0.3022	0.0573	0.0874	0.0715	0.0814	0.0376	0.1514	0.0761	0.1283	0.2175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	28915.5	65	chr2	174750180	.	CA	C	28915.5	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.339;DP=1602;ExcessHet=0;FS=1.661;InbreedingCoeff=nan;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=26.38;ReadPosRankSum=0.186;SOR=0.504	GT:AD:DP:GQ:PL	0/1:2,22:65:99:1336,627,525	10	0	9	0
chr2	178431939	178431939	T	C	ncRNA_intronic	CHROMR	.	.	.	.	60	1169	290	3	0	296	0.112377	.	.	.	283886	Dystonia_16|not_provided	MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122138	3179	26028	rs3997877	0.2943	0.2403	0.3023	0.2867	0.3147	0.2932	0.2928	0.3134	0.3128	0.1778	0.2978	0.2815	0.3023	0.2193	0.2375	0.3147	0.2731	0.2033	0.2253	0.2283	0.2273	0.2233	0.2781	0.2233	0.2225	0.2660	0.2612	0.1598	0.3223	0.2653	0.2686	0.2781	0.2030	0.2021	0.2530	0.2250	0.2176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	668.83	7	chr2	178431939	.	T	C	668.83	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.286;DP=155;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1811;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.169;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,4:7:99:146,0,103	14	0	5	0
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	not_provided|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Limb-girdle_muscular_dystrophy,_recessive|Hypertrophic_cardiomyopathy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN239352|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	1315.81	90	chr2	178535858	.	GA	G	1315.81	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.521;DP=2933;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.587;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=-0.227;SOR=0.718	GT:AD:DP:GQ:PL	0/1:59,15:90:63:146,0,1397	8	0	11	0
chr2	178679958	178679958	-	TCT	exonic	TTN	.	nonframeshift insertion	TTN:NM_133378:exon137:c.29783_29784insAGA:p.E9928_Y9929insE,TTN:NM_001256850:exon138:c.32564_32565insAGA:p.E10855_Y10856insE,TTN:NM_001267550:exon140:c.33515_33516insAGA:p.E11172_Y11173insE	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	223	3	0	0	3	0.00668151	.	.	.	56054	Primary_dilated_cardiomyopathy|Brugada_syndrome|not_provided|Cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified|Ventricular_fibrillation,_paroxysmal_familial,_type_1|Cardiovascular_phenotype	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|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0011376,MedGen:C2751898,OMIM:603829,Orphanet:228140|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0132	0.00459265	0.0110	0.0031	0.0034	0	0.0124	0.0162	0.0189	0.0047	0.0018823	291	154602	rs368327166	0.0167	0.0167	0.0171	0.0164	0.0198	0.0166	0.0165	0.0196	0.0195	0.0027	0.0045	0.0059	0	0.0140	0.0024	0.0198	0.0123	0.0060	0.0111	0.0111	0.0121	0.0101	0.0185	0.0107	0.0105	0.0177	0.0173	0.0032	0.0099	0.0051	0.0055	0	0.0141	0	0.0185	0.0081	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001512	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.000000	0.05263	6301.79	163	chr2	178679958	.	C	CTCT	6301.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.294;DP=924;ExcessHet=0.119;FS=1.91;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=20.8;ReadPosRankSum=-1.113;SOR=0.818	GT:AD:DP:GQ:PL	0/1:69,94:163:99:3675,0,2615	17	0	2	0
chr2	197498822	197498822	G	C	exonic	HSPD1	.	synonymous SNV	HSPD1:NM_002156:exon2:c.C27G:p.R9R,HSPD1:NM_199440:exon2:c.C27G:p.R9R	Leukodystrophy, hypomyelinating, 4, Autosomal recessive;Spastic paraplegia 13, autosomal dominant, Autosomal dominant	1	1507	14	0	0	14	0.00462351	.	.	.	134688	not_provided|Hereditary_spastic_paraplegia_13|HSPD1-related_disorder|Spastic_paraplegia|not_specified|Hereditary_spastic_paraplegia	MedGen:C3661900|MONDO:MONDO:0011532,MedGen:C1854467,OMIM:605280,Orphanet:100994|.|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0052	0.00199681	0.0048	0.0012	0.0028	0	0.0038	0.0058	0.0044	0.0072	0.004793	741	154602	rs11551349	0.0067	0.0067	0.0065	0.0068	0.0082	0.0065	0.0065	0.0077	0.0075	0.0010	0.0030	0.0003	5.038e-05	0.0051	0.0054	0.0073	0.0063	0.0082	0.0049	0.0049	0.0050	0.0048	0.0079	0.0046	0.0045	0.0074	0.0072	0.0013	0.0132	0.0024	0.0009	0	0.0051	0.0068	0.0079	0.0085	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.003525	0.005051	0.002717	0.000000	0.000000	0.000000	0.006098	0.011364	0.02632	1382.33	121	chr2	197498822	.	G	C	1382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.579;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.247;SOR=0.728	GT:AD:DP:GQ:PL	0/1:64,57:121:99:1396,0,1587	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	22154.8	102	chr2	233681881	.	T	G	22154.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.327;DP=1664;ExcessHet=1.2994;FS=1.262;InbreedingCoeff=0.0087;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-0.254;SOR=0.815	GT:AD:DP:GQ:PL	1/1:0,102:102:99:2963,306,0	7	3	9	0
chr2	240742970	240742970	G	A	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379636:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379637:exon32:c.C3371T:p.S1124L,KIF1A:NM_001379639:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379640:exon32:c.C3293T:p.S1098L,KIF1A:NM_001379641:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379648:exon32:c.C3371T:p.S1124L,KIF1A:NM_001379649:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379650:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379651:exon32:c.C3296T:p.S1099L,KIF1A:NM_001379653:exon32:c.C3296T:p.S1099L,KIF1A:NM_004321:exon32:c.C3296T:p.S1099L,KIF1A:NM_001320705:exon33:c.C3323T:p.S1108L,KIF1A:NM_001330289:exon33:c.C3323T:p.S1108L,KIF1A:NM_001330290:exon33:c.C3398T:p.S1133L,KIF1A:NM_001379632:exon33:c.C3548T:p.S1183L,KIF1A:NM_001379633:exon33:c.C3572T:p.S1191L,KIF1A:NM_001379634:exon33:c.C3398T:p.S1133L,KIF1A:NM_001379635:exon33:c.C3398T:p.S1133L,KIF1A:NM_001379638:exon33:c.C3323T:p.S1108L,KIF1A:NM_001379642:exon33:c.C3572T:p.S1191L,KIF1A:NM_001379645:exon33:c.C3572T:p.S1191L,KIF1A:NM_001379646:exon33:c.C3398T:p.S1133L,KIF1A:NM_001244008:exon34:c.C3599T:p.S1200L,KIF1A:NM_001379631:exon34:c.C3674T:p.S1225L	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	450897	not_provided|Hereditary_spastic_paraplegia_30|Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9	MedGen:C3661900|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.059	0.0588993988299	.	.	9.144e-05	0.0003	0	0	0	0.0001	0	8.012e-05	3.84e-05	1	26028	rs763750448	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	5.979e-05	6.735e-05	0	2.523e-05	1.889e-05	0	0.0002	0.0002	5.834e-05	7.228e-05	7.223e-05	7.707e-05	6.726e-05	0.0001	3.971e-05	3.127e-05	6.803e-05	5.087e-05	4.827e-05	0	0	0	0	0	0	0.0001	0	0	0.356	0.21968	T	0.147	0.34241	T	0.386	0.35064	B	0.029	0.21540	B	0.016190	0.28043	U	0.336375	0.999269	0.46490	D	1.555	0.39373	L	-0.97	0.75670	T	-3.01	0.62518	D	0.554	0.60241	-0.4509	0.70370	T	0.280	0.65139	T	10	0.14887118	0.28184	T	0.058899	0.67480	D	0.206	0.49396	.	.	0.549535270781	0.54609	0.3348749960511559	0.33400	0.38830470761	0.40095	0.683194100857	0.64728	T	0.317179	0.68866	T	-0.183853	0.23165	T	-0.222433	0.52503	T	0.0407920870069119	0.03834	T	0.974203	0.90777	D	0.11106671	0.26247	0.12556934	0.30253	0.11106671	0.26247	0.12556934	0.30252	-12.136	0.85507	D	.	.	0.115	0.44122	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.565633	0.71987	25.8	0.99816065102214602	0.89973	0.80256	0.39942	D	AEFDBCI	0.427374	0.49135	N	0.00426122267347775	0.42049	2.526288	0.120965630794193	0.45622	2.822173	0.999273439629424	0.38974	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.604944	0.38103	0	.	.	4.6	4.6	0.56512	3.457000	0.52771	8.410000	0.77125	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.782	0.88436	994	0.00715	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1073.33	103	chr2	240742970	.	G	A	1073.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.058;DP=713;ExcessHet=0;FS=1.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.106;SOR=0.934	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1087,0,1270	18	0	1	0
chr2	240757423	240757423	-	TCC	exonic	KIF1A	.	nonframeshift insertion	KIF1A:NM_001379632:exon26:c.2702_2703insGGA:p.E900_D901insE,KIF1A:NM_001379633:exon26:c.2726_2727insGGA:p.E908_D909insE,KIF1A:NM_001379642:exon26:c.2726_2727insGGA:p.E908_D909insE,KIF1A:NM_001379645:exon26:c.2726_2727insGGA:p.E908_D909insE,KIF1A:NM_001244008:exon27:c.2753_2754insGGA:p.E917_D918insE,KIF1A:NM_001379631:exon27:c.2828_2829insGGA:p.E942_D943insE	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	488454	not_provided|not_specified|KIF1A-related_disorder|KIF1A_related_neurological_disorder	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0700055,MedGen:CN312623	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0130	0.0164	0.0246	0.0066	0.0087	0.0135	0.0122	0.0129	0.0005379	14	26028	rs758125020	0.0169	0.0158	0.0169	0.0168	0.0213	0.0167	0.0166	0.0200	0.0194	0.0213	0.0117	0.0105	0.0015	0.0162	0.0188	0.0176	0.0157	0.0168	0.0178	0.0170	0.0184	0.0171	0.0199	0.0172	0.0170	0.0187	0.0183	0.0199	0	0.0119	0.0163	0.0017	0.0186	0.0110	0.0193	0.0121	0.0179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	41239.7	89	chr2	240757423	.	A	ATCC	41239.7	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.064;DP=2466;ExcessHet=1.9883;FS=1.234;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.01;ReadPosRankSum=-0.178;SOR=0.872	GT:AD:DP:GQ:PL	0/1:0,36:89:99:3542,2153,2079	18	0	1	0
chr3	15521729	15521729	-	TG	upstream	COLQ	dist=23	.	.	Myasthenic syndrome, congenital, 5, Autosomal recessive	67	130	17	12	0	41	0.136213	.	.	.	293472	Congenital_Myasthenic_Syndrome,_Recessive|not_provided	MedGen:CN239337|MedGen:C3661900	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4210.29	29	chr3	15521729	.	T	TTG	4210.29	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.908;DP=686;ExcessHet=1.8686;FS=6.498;InbreedingCoeff=0.0129;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=18.88;ReadPosRankSum=-0.523;SOR=1.239	GT:AD:DP:GQ:PL	0/1:18,8:29:99:204,0,595	10	1	8	0
chr3	15645186	15645186	G	C	exonic	BTD	.	nonsynonymous SNV	BTD:NM_001281723:exon4:c.G1270C:p.D424H,BTD:NM_001281725:exon4:c.G1270C:p.D424H,BTD:NM_001370658:exon4:c.G1270C:p.D424H,BTD:NM_001323582:exon5:c.G1270C:p.D424H,BTD:NM_001281724:exon6:c.G1270C:p.D424H	Biotinidase deficiency, Autosomal recessive	2	1418	95	7	0	109	0.0370119	.	.	YES	16939	Biotinidase_deficiency|not_provided|Inborn_genetic_diseases|BTD-related_disorder	MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260,Orphanet:79241|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.769	.	0.0301	0.0185703	0.0317	0.0064	0.0152	0.0001	0.0540	0.0394	0.0352	0.0353	0.0314679	4865	154602	rs13078881	0.0390	0.0390	0.0391	0.0389	0.0420	0.0387	0.0386	0.0417	0.0415	0.0055	0.0189	0.0329	0.0002	0.0525	0.0205	0.0420	0.0385	0.0371	0.0294	0.0294	0.0284	0.0305	0.0403	0.0287	0.0284	0.0391	0.0386	0.0081	0	0.0287	0.0297	0.0002	0.0553	0.0408	0.0403	0.0350	0.0377	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.011652	0.29451	N	0.392353	0.991903	0.41504	A	3.055	0.86842	M	-3.72	0.95422	D	-5.48	0.85692	D	0.149	0.15187	0.464	0.90040	D	0.757	0.91710	D	9	0.01670149	0.00353	T	.	.	.	0.769	0.92212	.	.	.	.	0.8205354657431334	0.82010	0.109977912517	0.12399	0.437338232994	0.30213	T	0.892705	0.97833	D	0.00674126	0.52581	T	0.269042	0.86523	D	0.0872976775988275	0.10895	T	0.910909	0.68443	D	0.3162185	0.54318	0.4804979	0.69913	0.32418567	0.54991	0.41853052	0.65874	-8.47	0.64230	D	.	.	0.294	0.52508	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.641328	0.51634	23.1	0.99037496549655568	0.50939	0.93213	0.57620	D	AEFBI	0.527041	0.54914	D	0.306778470298634	0.56495	3.81437	0.17854025293852	0.48673	3.080047	0.999993304002011	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.678554	0.66404	0	.	.	5.58	3.8	0.42887	3.238000	0.51051	4.432000	0.43354	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.425000	0.27339	0.1379:0.0:0.8621:0.0	12.205	0.53657	498	0.76166	.;.;.;.;.;.;.	EAF1-AS1	Testis	.	.	rs13078881	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.027190	0.015152	0.016304	0.023392	0.000000	0.043103	0.042683	0.034091	0.1053	8230.41	158	chr3	15645186	.	G	C	8230.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.383;DP=988;ExcessHet=0.0101;FS=2.59;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=20.12;ReadPosRankSum=1.92;SOR=0.528	GT:AD:DP:GQ:PL	0/1:80,78:158:99:2186,0,2219	16	1	2	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA,EOMES:NM_005442:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	335	305	451	409	22	1291	0.675359	.	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	12741.0	20	chr3	27721936	.	G	GCGGCGC	12741.0	.	AC=26;AF=0.684;AN=38;BaseQRankSum=-0.839;DP=443;ExcessHet=0.0524;FS=2.607;InbreedingCoeff=0.3602;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=28.87;ReadPosRankSum=0.221;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,4:20:99:.:.:113,0,660:.	3	10	6	0
chr3	149141200	149141200	-	TTTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	0	74	22	0	130	152	0.129412	.	.	.	293178	Hermansky-Pudlak_syndrome|not_provided	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0744	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	95762.0	329	chr3	149141200	.	C	CTTTTT	95762.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.089;DP=7853;ExcessHet=8.7202;FS=0.528;InbreedingCoeff=-0.3838;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=0.228;SOR=0.752	GT:AD:DP:GQ:PL	0/1:209,31:329:60:1533,0,9086	14	0	5	0
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	5192.91	35	chr3	160258644	.	G	GA	5192.91	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.423;DP=895;ExcessHet=4.0818;FS=0;InbreedingCoeff=-0.2179;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.04;SOR=0.649	GT:AD:DP:GQ:PL	0/1:18,17:35:99:373,0,405	9	1	9	0
chr3	170998041	170998041	G	A	exonic	SLC2A2	.	synonymous SNV	SLC2A2:NM_001278658:exon10:c.C1080T:p.F360F,SLC2A2:NM_001278659:exon10:c.C918T:p.F306F,SLC2A2:NM_000340:exon11:c.C1437T:p.F479F	Fanconi-Bickel syndrome, Autosomal recessive	2	712	648	160	0	968	0.404682	.	.	.	135795	not_specified|Fanconi-Bickel_syndrome|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|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	.	.	.	.	.	.	.	.	.	.	0.3964	0.372604	0.3159	0.5942	0.2813	0.2418	0.2678	0.3020	0.3113	0.2840	0.310611	48021	154602	rs5398	0.2950	0.2951	0.2967	0.2933	0.6047	0.2943	0.2940	0.5978	0.5949	0.6047	0.2907	0.3167	0.2228	0.2633	0.3290	0.2893	0.3178	0.2786	0.3751	0.3754	0.3789	0.3713	0.5947	0.3726	0.3715	0.5885	0.5859	0.5947	0.2429	0.3398	0.3292	0.2307	0.2443	0.3151	0.2923	0.3645	0.2732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.367440	0.439394	0.398098	0.333333	0.450000	0.379310	0.328221	0.310606	0.2632	16346.2	100	chr3	170998041	.	G	A	16346.2	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-1.17;DP=1492;ExcessHet=1.8686;FS=3.247;InbreedingCoeff=-0.0857;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-0.463;SOR=0.505	GT:AD:DP:GQ:PL	0/1:43,57:100:99:1471,0,1130	10	1	8	0
chr4	634704	634704	G	A	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_000283:exon2:c.G496A:p.E166K,PDE6B:NM_001145291: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	not_provided|Retinal_dystrophy|Retinitis_pigmentosa|Congenital_stationary_night_blindness_autosomal_dominant_2	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|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.005051	0.017663	0.008772	0.000000	0.034483	0.018293	0.007576	0.02632	2237.33	183	chr4	634704	.	G	A	2237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=816;ExcessHet=0;FS=0.55;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-1.86;SOR=0.641	GT:AD:DP:GQ:PL	0/1:93,90:183:99:2251,0,2117	18	0	1	0
chr4	670239	670239	-	T	UTR3	PDE6B	NM_000283:c.*132_*133insT;NM_001145291:c.*132_*133insT;NM_001379247:c.*132_*133insT;NM_001379246:c.*132_*133insT;NM_001145292:c.*132_*133insT;NM_001350154:c.*25_*26insT;NM_001350155:c.*25_*26insT	.	.	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299220	Congenital_Stationary_Night_Blindness,_Dominant|not_provided|Retinitis_Pigmentosa,_Recessive	MedGen:CN239263|MedGen:CN517202|MedGen:CN239466	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0355	0.0536	0.0324	0.0244	0.0022	0.0236	0.0125	0.0772	0.0001537	4	26028	rs775283243	0.2040	0.2154	0.2059	0.2023	0.2177	0.2032	0.2028	0.2121	0.2117	0.2177	0.1879	0.2013	0.1159	0.1601	0.1603	0.2131	0.2013	0.1690	0.1202	0.1373	0.1255	0.1144	0.1627	0.1186	0.1180	0.1591	0.1577	0.1627	0.0849	0.0823	0.1257	0.0125	0.0550	0.1120	0.1261	0.1089	0.0417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	537.55	3	chr4	670239	.	A	AT	537.55	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.366;DP=369;ExcessHet=2.8292;FS=1.368;InbreedingCoeff=-0.1279;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=6.8;ReadPosRankSum=-0.319;SOR=0.426	GT:AD:DP:GQ:PL	0/1:2,1:3:12:12,0,22	14	0	5	0
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	306	693	523	0	1739	0.739685	.	.	.	54598	WFS1-Related_Spectrum_Disorders|Wolfram_syndrome_1|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided|not_specified	MedGen:CN239410|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5531	0.641573	0.6245	0.4646	0.7443	0.9358	0.5720	0.5907	0.6355	0.6352	0.616195	95265	154602	rs1801206	0.6051	0.6051	0.6041	0.6061	0.9578	0.6040	0.6036	0.9497	0.9464	0.4555	0.7260	0.6765	0.9578	0.5715	0.5902	0.5890	0.6193	0.6353	0.5756	0.5759	0.5734	0.5779	0.9332	0.5724	0.5711	0.9111	0.9021	0.4596	0.3890	0.6659	0.6603	0.9332	0.5667	0.6156	0.5925	0.6087	0.6444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.592145	0.550505	0.592391	0.529240	0.600000	0.594828	0.612805	0.643939	0.5526	85232.2	375	chr4	6300980	.	C	T	85232.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.441;DP=4379;ExcessHet=0.1862;FS=0.605;InbreedingCoeff=0.2549;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=22.78;ReadPosRankSum=-0.679;SOR=0.767	GT:AD:DP:GQ:PL	0/1:198,177:375:99:4726,0,5748	5	7	7	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	10	265	679	568	0	1815	0.773987	.	.	YES	54604	WFS1-Related_Spectrum_Disorders|not_specified|Type_2_diabetes_mellitus|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_6	MedGen:CN239410|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6323	0.729433	0.6595	0.6736	0.7600	0.9441	0.5735	0.6010	0.6641	0.7013	0.648394	100243	154602	rs1801214	0.6232	0.6230	0.6215	0.6249	0.9621	0.6221	0.6216	0.9540	0.9506	0.6757	0.7449	0.6960	0.9621	0.5729	0.6281	0.5982	0.6483	0.6951	0.6443	0.6444	0.6428	0.6459	0.9402	0.6409	0.6395	0.9181	0.9091	0.6704	0.3904	0.7014	0.6817	0.9402	0.5669	0.6531	0.6019	0.6596	0.7030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.658107	0.641414	0.689373	0.599415	0.700000	0.629310	0.643293	0.696970	0.5789	63552.2	254	chr4	6301295	.	C	T	63552.2	.	AC=22;AF=0.579;AN=38;BaseQRankSum=1.58;DP=3316;ExcessHet=0.5308;FS=0.581;InbreedingCoeff=0.1364;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=21.89;ReadPosRankSum=-0.018;SOR=0.604	GT:AD:DP:GQ:PL	0/1:144,110:254:99:3022,0,3692	4	7	8	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	432	231	483	376	0	1235	0.727755	.	.	.	1276892	not_provided|Hereditary_attention_deficit-hyperactivity_disorder	MedGen:C3661900|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	31737.2	130	chr4	9783510	.	T	C	31737.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.592;DP=1781;ExcessHet=0.463;FS=0;InbreedingCoeff=0.1556;MLEAC=18;MLEAF=0.474;MQ=59.93;MQRankSum=0;QD=20.95;ReadPosRankSum=0.468;SOR=0.649	GT:AD:DP:GQ:PL	1/1:0,130:130:99:3945,390,0	6	5	8	0
chr4	38797027	38797027	C	A	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.G1805T:p.S602I	.	433	95	396	598	0	1592	0.893378	.	.	.	23399	Leprosy,_susceptibility_to,_1|Leprosy,_protection_against|TLR1-related_disorder	MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548|MedGen:C2750734|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	0.056	.	0.4786	0.800519	0.5389	0.8744	0.7912	0.9899	0.1358	0.3358	0.5330	0.8978	0.490919	75897	154602	rs5743618	0.3478	0.3478	0.3322	0.3635	0.9891	0.3470	0.3467	0.9809	0.9775	0.8882	0.7620	0.5248	0.9891	0.1455	0.7954	0.2484	0.4321	0.8925	0.5230	0.5233	0.5155	0.5310	0.9882	0.5200	0.5187	0.9656	0.9564	0.8680	0.3374	0.6795	0.5378	0.9882	0.1309	0.7857	0.2742	0.5970	0.9061	1.0	0.00964	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.223979	0.03474	N	1.586730	1	0.08975	P	-2.455	0.00064	N	4.65	0.01779	T	2.33	0.00281	N	0.015	0.00203	-0.9814	0.34678	T	0.000	0.00011	T	9	1.5470836e-06	0.00003	T	.	.	.	0.056	0.15993	.	.	.	.	0.194904177424025	0.19408	0.0725892304128	0.08138	0.27531477809	0.06848	T	0.049442	0.28307	T	-0.808969	0.00007	T	-0.790984	0.02138	T	0.00365530579536446	0.00039	T	0.0535946	0.00383	T	0.052709427	0.09870	0.056038916	0.09939	0.052709427	0.09870	0.056038916	0.09939	1.962	0.00053	T	.	.	0.056	0.00496	B	.;.	.;.	0.550795	0.09195	5.976	0.10915785735844558	0.00150	0.04174	0.09671	N	AEFGBCI	0.072195	0.14400	N	-1.36048708973054	0.03017	0.134138	-1.14431403439413	0.06871	0.3322031	0.970372123348399	0.29203	0.631515	0.41029	0	0.697927	0.68747	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.43	2.76	0.31527	0.245000	0.17917	0.357000	0.17536	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4839:0.3908:0.0:0.1253	8.482	0.32208	653	0.62661	.;.	FAM114A1|FAM114A1|TLR6|TLR10|TLR1|TLR6|TLR1|TLR1|FAM114A1|TLR1|TLR1|FAM114A1|TLR6|TLR6|FAM114A1|TLR1|FAM114A1|FAM114A1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood	TLR1|TLR1|TLR10|TLR1|TLR1|TLR1|TLR1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Spleen|Whole_Blood	chr4:38798648	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.802115	0.868687	0.845109	0.918129	0.550000	0.758621	0.542683	0.757576	0.7632	94577.4	236	chr4	38797027	.	C	A	94577.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-0.546;DP=3688;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=29;MLEAF=0.763;MQ=53.96;MQRankSum=-8.634;QD=26.54;ReadPosRankSum=-0.324;SOR=0.701	GT:AD:DP:GQ:PL	1/1:0,236:236:99:7820,709,0	1	11	7	0
chr4	54263765	54263765	G	A	exonic	PDGFRA	.	nonsynonymous SNV	PDGFRA:NM_001347827:exon4:c.G466A:p.E156K,PDGFRA:NM_001347829:exon4:c.G466A:p.E156K,PDGFRA:NM_001347830:exon4:c.G505A:p.E169K,PDGFRA:NM_006206:exon4:c.G466A:p.E156K,PDGFRA:NM_001347828:exon5:c.G541A:p.E181K	Gastrointestinal stromal tumor, somatic;Hypereosinophilic syndrome, idiopathic, resistant to imatinib, Isolated cases, Somatic mutation	.	.	.	.	.	.	.	.	.	.	394377	not_provided|Hereditary_cancer-predisposing_syndrome|PDGFRA-related_disorder|Gastrointestinal_stromal_tumor	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.00865720055286	.	.	0.0002	0	0.0009	0	0	5.994e-05	0	0.0008	0.0001746	27	154602	rs760631068	7.73e-05	7.798e-05	6.262e-05	9.213e-05	0.0008	6.533e-05	6.136e-05	0.0006	0.0006	2.987e-05	0.0006	0	2.519e-05	1.872e-05	0.0002	1.259e-05	6.623e-05	0.0008	0.0001	0.0001	0.0001	0.0001	0.0010	8.174e-05	6.729e-05	0.0007	0.0005	0	0	0.0010	0	0	0	0	0	0.0005	0.0004	0.791	0.21224	T	0.69	0.27943	T	0.001	0.15535	B	0.001	0.12133	B	0.983834	0.08076	U	0.987864	1	0.08975	N	1.445	0.36358	L	1.76	0.32722	T	-0.63	0.18459	N	0.085	0.06587	-0.9878	0.33151	T	0.045	0.19518	T	10	0.014832288	0.00312	T	0.008657	0.22878	T	0.019	0.03383	0.391	0.41443	0.2338531098	0.23012	0.6030464888365247	0.60235	0.364123964793	0.38027	0.292812377214	0.09333	T	0.047079	0.27617	T	-0.578129	0.00198	T	-0.692374	0.06252	T	0.012592918795096	0.00210	T	0.735226	0.36032	T	0.04013194	0.05670	0.05756482	0.10487	0.04013194	0.05670	0.05756482	0.10486	-4.169	0.35168	T	.	.	0.064	0.03336	B	.;.;.;.	.;.;.;.	1.034731	0.14151	10.72	0.78978585744188612	0.12536	0.02995	0.07855	N	AEFDBIJ	0.082870	0.16784	N	-1.10280778133317	0.06593	0.3039381	-1.15415722853266	0.06693	0.3230525	0.99652693458894	0.34806	0.59774	0.34471	0	0.573888	0.26702	0	0.618467	0.43123	0	0.63947	0.58350	0	.	.	5.59	-2.17	0.06663	-0.168000	0.09914	0.479000	0.18787	-0.106000	0.15538	0.000000	0.06391	0.018000	0.20648	0.003000	0.05239	0.3301:0.3306:0.2595:0.0798	3.632	0.07678	470	0.78111	Immunoglobulin subtype;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3296.33	282	chr4	54263765	.	G	A	3296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.717;DP=920;ExcessHet=0;FS=0.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.486;SOR=0.623	GT:AD:DP:GQ:PL	0/1:144,138:282:99:3310,0,3314	18	0	1	0
chr4	78540802	78540802	T	C	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon74:c.T11717C:p.I3906T	Fraser syndrome, Autosomal recessive	0	1464	58	0	0	58	0.019424	.	.	.	538370	Fraser_syndrome_1|not_provided	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.197	.	0.0139	0.00778754	0.0132	0.0043	0.0100	0	0.0124	0.0185	0.0179	0.0064	0.0133763	2068	154602	rs61748814	0.0183	0.0183	0.0185	0.0180	0.0219	0.0181	0.0180	0.0207	0.0206	0.0031	0.0101	0.0111	0.0001	0.0120	0.0219	0.0209	0.0191	0.0082	0.0138	0.0138	0.0140	0.0135	0.0213	0.0133	0.0131	0.0204	0.0200	0.0036	0.0110	0.0153	0.0141	0	0.0134	0.0408	0.0213	0.0123	0.0066	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	0.006386	0.32067	N	0.331043	0.999896	0.19781	N	.	.	.	.	.	.	.	.	.	0.214	0.23884	-1.0406	0.17132	T	0.059	0.24723	T	10	0.007147819	0.00162	T	.	.	.	.	.	.	.	.	.	0.2626389108345624	0.26176	.	.	0.394287019968	0.24272	T	.	.	.	-0.338804	0.05472	T	-0.242525	0.50551	T	0.0423308797337813	0.04116	T	0.765923	0.39354	T	.	.	.	.	.	.	.	.	-5.333	0.40268	T	.	.	0.08	0.07793	B	.	.	2.479057	0.31965	18.90	0.96404202763134494	0.29699	0.93318	0.57896	D	AEFBI	0.612653	0.60065	D	0.0313252472787215	0.43284	2.624384	0.0884902610956421	0.43966	2.687736	0.999999999985055	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	6.116000	0.71264	7.868000	0.71808	0.665000	0.62972	0.990000	0.36992	0.994000	0.32194	0.010000	0.09038	0.0:0.0:0.0:1.0	16.822	0.85699	865	0.32612	.	.	.	.	.	rs61748814	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.010101	0.017663	0.017544	0.000000	0.025862	0.030488	0.015152	0.07895	6164.79	181	chr4	78540802	.	T	C	6164.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.801;DP=1072;ExcessHet=0.3672;FS=1.746;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.446;SOR=0.577	GT:AD:DP:GQ:PL	0/1:93,88:181:99:2222,0,2159	16	0	3	0
chr4	153703504	153703504	T	C	exonic	TLR2	.	synonymous SNV	TLR2:NM_001318789:exon3:c.T597C:p.N199N,TLR2:NM_001318790:exon3:c.T597C:p.N199N,TLR2:NM_001318791:exon3:c.T597C:p.N199N,TLR2:NM_001318793:exon3:c.T597C:p.N199N,TLR2:NM_001318795:exon3:c.T597C:p.N199N,TLR2:NM_001318796:exon3:c.T597C:p.N199N,TLR2:NM_003264:exon3:c.T597C:p.N199N,TLR2:NM_001318787:exon4:c.T597C:p.N199N	.	433	374	514	201	0	916	0.550481	.	.	.	3197327	TLR2-related_disorder|COVID-19–associated_multisystem_inflammatory_syndrome_in_adults	.|MONDO:MONDO:0100319,MedGen:CN305503	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4947	0.414736	0.4113	0.6113	0.3166	0.2941	0.3755	0.4353	0.3833	0.3322	0.410745	63502	154602	rs3804099	0.4315	0.4315	0.4342	0.4288	0.6172	0.4306	0.4302	0.6102	0.6073	0.6172	0.3330	0.4315	0.3037	0.3765	0.4539	0.4448	0.4302	0.3318	0.4694	0.4697	0.4773	0.4612	0.6193	0.4665	0.4653	0.6129	0.6103	0.6193	0.3282	0.3800	0.4441	0.2870	0.3791	0.4592	0.4393	0.4748	0.3266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.447130	0.444444	0.479620	0.485380	0.650000	0.500000	0.384146	0.409091	0.3947	26831.8	169	chr4	153703504	.	T	C	26831.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.322;DP=2021;ExcessHet=1.2994;FS=0;InbreedingCoeff=0.0087;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-0.163;SOR=0.709	GT:AD:DP:GQ:PL	0/1:78,91:169:99:2204,0,1956	7	3	9	0
chr5	256320	256321	CT	-	intronic	SDHA	.	.	.	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	2	837	682	1	0	684	0.290076	.	.	.	297301	SDHA-related_disorder|Mitochondrial_complex_II_deficiency,_nuclear_type_1|not_provided|Leigh_syndrome|Paragangliomas_5|Pheochromocytoma|Hereditary_cancer-predisposing_syndrome|not_specified	.|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	8.255e-06	0	0	0	0	1.499e-05	0	0	0.0031889	83	26028	rs372662724	0.0587	0.1488	0.0629	0.0545	0.0712	0.0583	0.0582	0.0708	0.0706	0.0457	0.0112	0.0178	0.0073	0.0091	0.0398	0.0712	0.0454	0.0146	0.0009	0.0171	0.0008	0.0010	0.0012	0.0007	0.0007	0.0009	0.0008	0.0012	0.0012	0.0010	0.0003	0.0004	0.0010	0.0035	0.0007	0.0016	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	4256.78	157	chr5	256319	.	ACT	A	4256.78	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.636;DP=2025;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.92;MQRankSum=-12.78;QD=2.85;ReadPosRankSum=0.587;SOR=0.721	GT:AD:DP:GQ:PL	0/1:138,19:157:99:239,0,5705	10	0	9	0
chr5	13886136	13886138	AAA	-	intronic	DNAH5	.	.	.	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	.	295553	Primary_ciliary_dyskinesia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1980	0.1530	0.2345	0.0616	0.3012	0.2362	0.2935	0.0933	0.0001229	19	154602	rs201639682	0.2197	0.2090	0.2202	0.2191	0.2636	0.2189	0.2187	0.2584	0.2562	0.1733	0.2636	0.2290	0.0664	0.2132	0.2468	0.2261	0.2174	0.2025	0.2129	0.2043	0.2115	0.2145	0.2821	0.2108	0.2099	0.2742	0.2710	0.1491	0.2864	0.2821	0.2820	0.0620	0.2497	0.2924	0.2356	0.2207	0.2146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	9628.75	13	chr5	13886135	.	CAAA	C	9628.75	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.821;DP=859;ExcessHet=2.9153;FS=5.194;InbreedingCoeff=-0.2258;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=19.69;ReadPosRankSum=0.636;SOR=1.251	GT:AD:DP:GQ:PL	1/0:2,4:13:35:277,77,132	7	0	12	0
chr5	38528850	38528851	AC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303937	not_provided|Stuve-Wiedemann_syndrome|Stüve-Wiedemann_syndrome_1	MedGen:C3661900|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MONDO:MONDO:0800043,MedGen:C5676888,OMIM:601559,Orphanet:3206	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3454	0.2017	0.3103	0.2720	0.2788	0.3796	0.3684	0.3566	0.0001423	22	154602	rs34759137	0.2992	0.3291	0.2912	0.3066	0.3471	0.2982	0.2977	0.3382	0.3366	0.1605	0.2828	0.4123	0.2437	0.3501	0.3471	0.2931	0.3145	0.3421	0.3263	0.3064	0.3244	0.3283	0.4408	0.3237	0.3227	0.4237	0.4168	0.1328	0.3872	0.3252	0.5692	0.3125	0.3579	0.4286	0.4208	0.3804	0.4408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	7231.25	39	chr5	38528849	.	GAC	G	7231.25	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.37;DP=803;ExcessHet=0.463;FS=0;InbreedingCoeff=0.1556;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=-0.359;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:4,16:39:99:.:.:759,202,247:.	6	0	13	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	Stuve-Wiedemann_syndrome|not_provided|not_specified	MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MedGen:C3661900|MedGen:CN169374	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7231.25	39	chr5	38528849	.	GACAC	G	7231.25	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.37;DP=803;ExcessHet=0.463;FS=0;InbreedingCoeff=0.1556;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=-0.359;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,11:39:99:.:.:759,329,504:.	15	0	4	0
chr5	132609401	132609401	G	A	intronic	RAD50	.	.	.	Nijmegen breakage syndrome-like disorder	38	1468	13	3	0	19	0.00642978	0.9774	0.67	.	45935	not_provided|Nijmegen_breakage_syndrome-like_disorder|Hereditary_cancer-predisposing_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0006	0.000399361	0.0010	0	0.0032	0.0001	0.0002	0.0012	0	0.0002	0.0008926	138	154602	rs181016343	0.0007	0.0007	0.0007	0.0007	0.0153	0.0007	0.0007	0.0127	0.0117	0.0002	0.0028	0.0137	0.0001	7.496e-05	0.0153	0.0003	0.0017	0.0004	0.0008	0.0008	0.0009	0.0007	0.0014	0.0007	0.0006	0.0010	0.0008	2.407e-05	0	0.0014	0.0158	0.0004	0	0.0170	0.0005	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1243.83	73	chr5	132609401	.	G	A	1243.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.666;DP=747;ExcessHet=0.119;FS=4.207;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-0.916;SOR=1.056	GT:AD:DP:GQ:PL	0/1:47,26:73:99:555,0,1124	17	0	2	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	451	281	404	386	0	1176	0.67664	.	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.546324	0.454545	0.528533	0.593567	0.550000	0.560345	0.573171	0.606061	0.5263	31326.9	142	chr5	138556481	.	G	A	31326.9	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.479;DP=1832;ExcessHet=1.9883;FS=0;InbreedingCoeff=-0.0556;MLEAC=20;MLEAF=0.526;MQ=60;MQRankSum=0;QD=18.95;ReadPosRankSum=0.509;SOR=0.711	GT:AD:DP:GQ:PL	0/1:77,65:142:99:1305,0,1995	4	5	10	0
chr5	146878727	146878727	-	GCTGCTGCTGCTGCT	UTR5	PPP2R2B	NM_181675:c.-657_-656insAGCAGCAGCAGCAGC;NM_001271948:c.-22193_-22192insAGCAGCAGCAGCAGC	.	.	Spinocerebellar ataxia 12, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	215310	PPP2R2B-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077225	201	26028	rs142461655	0.1009	0.1092	0.0980	0.1038	0.1147	0.1004	0.1001	0.1126	0.1118	0.0771	0.0840	0.1328	0.0832	0.1021	0.1107	0.1002	0.1125	0.1147	0.0968	0.0971	0.0995	0.0940	0.1241	0.0955	0.0949	0.1169	0.1160	0.0773	0.0833	0.0789	0.1165	0.0656	0.0518	0.1069	0.1190	0.0968	0.1241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	19975.9	44	chr5	146878727	.	A	AGCTGCTGCTGCTGCT	19975.9	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.18;DP=1226;ExcessHet=3.6106;FS=0;InbreedingCoeff=-0.1709;MLEAC=9;MLEAF=0.237;MQ=59.98;MQRankSum=0;QD=26.22;ReadPosRankSum=-0.488;SOR=0.734	GT:AD:DP:GQ:PL	0/1:24,20:44:99:765,0,947	11	1	7	0
chr5	172454519	172454519	G	C	UTR5	SH3PXD2B	NM_001308175:c.-167C>G;NM_001017995:c.-167C>G	.	.	Frank-ter Haar syndrome, Autosomal recessive	604	714	108	96	0	300	0.173611	.	.	.	893952	Frank-Ter_Haar_syndrome|not_provided	MONDO:MONDO:0009579,MedGen:C1855305,OMIM:249420,Orphanet:1266,Orphanet:137834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112436148	0.2879	0.1737	0.2868	0.2890	0.3021	0.2817	0.2792	0.2953	0.2925	0.1436	0.2857	0.2167	0.1533	0.3621	0.1800	0.3021	0.2541	0.1656	0.2811	0.2891	0.2859	0.2759	0.3464	0.2787	0.2778	0.3425	0.3410	0.2019	0.4053	0.2760	0.2721	0.1487	0.2680	0.3209	0.3464	0.2888	0.1827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2692	616.21	4	chr5	172454519	.	G	C	616.21	.	AC=7;AF=0.269;AN=26;BaseQRankSum=-0.967;DP=50;ExcessHet=0.0379;FS=0;InbreedingCoeff=0.1882;MLEAC=10;MLEAF=0.385;MQ=60;MQRankSum=0;QD=29.34;ReadPosRankSum=0.967;SOR=1.358	GT:AD:DP:GQ:PL	0/1:2,2:4:67:67,0,70	8	2	3	6
chr5	177093242	177093242	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_001354984:exon9:c.G1162A:p.G388R,FGFR4:NM_002011:exon9:c.G1162A:p.G388R,FGFR4:NM_213647:exon9:c.G1162A:p.G388R	.	415	588	404	115	0	634	0.350276	.	.	.	31365	Cancer_progression_and_tumor_cell_motility|See_cases|FGFR4-related_disorder|not_specified	MedGen:C4016099|.|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	.	0.2423	0.299521	0.3210	0.1323	0.4337	0.4495	0.3358	0.3029	0.3112	0.3580	0.309718	47883	154602	rs351855	0.3062	0.3062	0.3051	0.3073	0.4369	0.3054	0.3051	0.4315	0.4292	0.1286	0.4070	0.3161	0.4369	0.3292	0.2908	0.2980	0.3088	0.3500	0.2682	0.2685	0.2646	0.2721	0.4490	0.2660	0.2651	0.4337	0.4275	0.1329	0.2719	0.3301	0.3207	0.4490	0.3254	0.2245	0.3048	0.2718	0.3663	0.12	0.27904	T	0.358	0.17064	T	0.998	0.73220	D	0.7	0.54153	P	0.005687	0.32589	N	0.316526	0.0177303	0.81001	P	1.5	0.37844	L	-1.67	0.82806	D	-0.16	0.09460	N	0.469	0.50508	-0.8840	0.49440	T	0.000	0.00011	T	9	0.0041104257	0.00081	T	.	.	.	0.519	0.79522	0.255	0.19533	.	.	0.7522868110974598	0.75175	0.827512574282	0.67481	0.476968705654	0.35640	T	0.259171	0.63041	T	-0.237093	0.15723	T	0.0304758	0.72308	D	0.0179416488997758	0.00520	T	0.631737	0.24648	T	0.10127284	0.23920	0.10703784	0.25763	0.10127284	0.23920	0.1078294	0.25965	-4.362	0.29037	T	.	.	0.313	0.60805	B	.;.	.;.	4.760676	0.76968	26.6	0.99879957222399041	0.95653	0.97395	0.74477	D	AEFDGBCI	0.850981	0.76783	D	0.164708132140378	0.49509	3.150608	0.211651071616305	0.50492	3.240753	0.999999535481989	0.74766	0.695654	0.57023	0	0.659912	0.62753	0	0.723109	0.80598	0	0.550183	0.17644	0	.	.	4.29	4.29	0.50359	6.850000	0.75217	6.632000	0.56155	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0906:0.0:0.9094:0.0	11.212	0.48035	835	0.38313	.;.	FGFR4|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|FGFR4|RGS14|PRELID1|FGFR4|RGS14|FGFR4|RGS14|FGFR4|FGFR4|RGS14|FGFR4|FGFR4|UIMC1|RGS14|FGFR4|FGFR4|PRELID1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Tibial|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Pituitary|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Thyroid|Whole_Blood|Whole_Blood	.	.	rs351855	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.283988	0.252525	0.250000	0.336257	0.400000	0.275862	0.240854	0.363636	0.4211	26088.0	152	chr5	177093242	.	G	A	26088.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.67;DP=1763;ExcessHet=6.1876;FS=0;InbreedingCoeff=-0.2955;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=-0.497;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,152:152:99:.:.:4793,454,0:.	5	2	12	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	5	101	508	907	1	2323	0.919968	.	.	.	54134	Woolly_hair-skin_fragility_syndrome|not_provided|DSP-related_disorder|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Cardiovascular_phenotype|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|.|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.767875	0.792929	0.766304	0.698830	0.800000	0.810345	0.829268	0.704545	0.7632	213407.0	523	chr6	7585734	.	G	C	213407.0	.	AC=29;AF=0.763;AN=38;BaseQRankSum=1.92;DP=8493;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=25.96;ReadPosRankSum=0.206;SOR=0.669	GT:AD:DP:GQ:PL	0/1:251,272:523:99:6965,0,6469	1	11	7	0
chr6	31928932	31928932	T	G	intronic	C2	.	.	.	C2 deficiency, Autosomal recessive	1	1490	28	3	0	34	0.0112807	.	.	.	896217	not_provided|Age_related_macular_degeneration_14|Complement_component_2_deficiency	MedGen:C3661900|MONDO:MONDO:0014207,MedGen:C3809653,OMIM:615489|MONDO:MONDO:0009006,MedGen:C3150275,OMIM:217000	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	9.718e-05	0.0004	0	0	0.0001	0	0.0002	0.00011	17	154602	rs776839411	0.0001	0.0001	0.0001	0.0001	0.0056	0.0001	0.0001	0.0040	0.0035	2.993e-05	0.0004	0.0002	0	0	0.0056	9.223e-05	0.0002	0.0001	7.22e-05	7.217e-05	3.854e-05	0.0001	0.0001	3.967e-05	3.124e-05	4.725e-05	3.044e-05	0.0001	0	0	0	0	0	0.0034	5.88e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1260.33	107	chr6	31928932	.	T	G	1260.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.638;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=2.74;SOR=0.737	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1274,0,1588	18	0	1	0
chr6	32039081	32039081	C	A	UTR5	CYP21A2	NM_001368143:c.-126C>A;NM_001368144:c.-126C>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	9	182	648	678	5	2009	0.846284	.	.	YES	193439	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	0.6293	0.650759	0.7060	0.7281	0.7932	0.7161	0.6224	0.7014	0.6834	0.6705	0.588071	90917	154602	rs6467	0.5950	0.5925	0.5939	0.5962	0.7333	0.5940	0.5935	0.7265	0.7237	0.6439	0.7333	0.6468	0.6576	0.4707	0.6835	0.5882	0.6013	0.6165	0.6088	0.6089	0.6127	0.6048	0.7113	0.6055	0.6042	0.7001	0.6955	0.6364	0.6394	0.7113	0.6359	0.6316	0.4363	0.6130	0.5918	0.6460	0.5973	0.313	0.13879	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-0.3	0.67874	T	0.4	0.03463	N	.	.	-1.0318	0.19873	T	0.093	0.35444	T	5	1.7294652e-06	0.00003	T	.	.	.	0.034	0.08419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.636234	0.00088	T	-0.542863	0.18016	T	0.00180369962629931	0.00018	T	0.226077	0.02982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05535	B	.	.	0.164705	0.05545	2.006	0.43740471587862012	0.03314	0.00179	0.01050	N	AEFBI	0.087333	0.17709	N	-1.19446011224149	0.05083	0.2309094	-1.36986281538789	0.03577	0.1671443	1.13245368839307E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	3.06	-0.591	0.11090	-0.233000	0.09056	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1987:0.5349:0.1383:0.1281	3.239	0.06373	923	0.18507	.	TCF19|C4A|CYP21A2|HLA-DRB9|HLA-DRB5|C4A|CYP21A1P|TNXA|HLA-DRB5|TNXA|CFB|MICB|C6orf48|CFB|C4A|CYP21A1P|HLA-DRB5|MICB|C4A|C4A|HLA-DRB9|HLA-DRB5|HLA-DOB|HLA-DMB|MICB|DDAH2|C4A|C4B|PSMB9|HLA-DRB5|HLA-DRB5|C4A|HLA-DRB5|PSORS1C1|MICB|LY6G6C|C4A|HLA-DRB5|C4A|C4A|HLA-DRB5|HLA-DRB5|MICB|TNXA|HLA-DRB5|MICB|C4A|HLA-DRB5|C4A|CYP21A1P|HLA-DRB5|C4A|TNXA|CYP21A2|HLA-DRB5|C6orf48|C4A|C4B|HLA-DRB5|MICB|MSH5|C6orf48|C4A|C4B|HLA-DRB5|C4A|TNXA|TAP1|HCG22|MICB|C4A|CYP21A1P|HLA-DRB9|HLA-DRB5|HLA-DMA|C4A|C4A|C4B|HLA-DRB5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	DXO|HLA-DRB5|HLA-DRB6|HLA-DRB1|VARS|VARS|C6orf15|CDSN|DXO|HLA-DQA1|DXO|CYP21A1P|CYP21A2	Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Cerebellum|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis	rs6467	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.7105	33397.6	78	chr6	32039081	.	C	A	33397.6	.	AC=27;AF=0.711;AN=38;BaseQRankSum=-0.074;DP=1336;ExcessHet=2.8258;FS=2.779;InbreedingCoeff=-0.1515;MLEAC=27;MLEAF=0.711;MQ=60;MQRankSum=0;QD=26.38;ReadPosRankSum=0.296;SOR=0.447	GT:AD:DP:GQ:PL	0/1:34,44:78:99:1124,0,893	1	9	9	0
chr6	32041874	32041874	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1817A:p.S606N,TNXB:NM_001365276:exon43:c.G12530A:p.S4177N,TNXB:NM_019105:exon43:c.G12524A:p.S4175N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	156	1167	186	13	0	212	0.0832679	.	.	.	188198	not_specified|not_provided|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.224	.	.	.	0.2369	0.3095	0.2	0.1429	0	0.2778	0.1795	0.2191	0.0010758	28	26028	rs199953230	0.0630	0.0905	0.0592	0.0664	0.1302	0.0624	0.0622	0.1249	0.1228	0.1302	0.0596	0.1009	0.0097	0.0564	0.0714	0.0578	0.0619	0.1021	0.0672	0.1011	0.0661	0.0684	0.1241	0.0658	0.0652	0.1200	0.1183	0.1241	0.0690	0.0633	0.0770	0.0199	0.0294	0.0337	0.0503	0.0673	0.0711	0.551	0.14996	T	1.0	0.01155	T	.	.	.	.	.	.	0.000041	0.53742	N	0.000000	1	0.08975	N	.	.	.	-1.13	0.77719	T	1.79	0.01121	N	0.06	0.07125	-1.0357	0.18637	T	0.077	0.30737	T	10	0.001997441	0.00028	T	.	.	.	0.224	0.52174	.	.	.	.	0.07582235178256264	0.07518	1.53742651601	0.87669	0.813815176487	0.84078	D	0.002058	0.01461	T	-0.234486	0.16060	T	-0.574599	0.15031	T	0.00591933667003544	0.00065	T	0.0176649	0.00099	T	0.06130841	0.12681	0.061310552	0.11818	0.06130841	0.12681	0.061310552	0.11817	-1.845	0.03461	T	0.1229657868823964	0.11852	0.050	0.00315	B	.;.;.;.;.	.;.;.;.;.	1.709254	0.21764	15.34	0.88167499122725401	0.17767	0.04006	0.09432	N	AEFGI	0.064479	0.12523	N	-0.809593627523601	0.13065	0.6410341	-0.628300974256214	0.18767	1.004015	0.0322796501112813	0.14047	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	0.728000	0.25682	.	.	-0.113000	0.14837	0.000000	0.06391	1.000000	0.68203	0.988000	0.63387	0.0:0.1752:0.0:0.8248	7.621	0.27353	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.162000	0.108696	0.195067	0.092593	0.000000	0.112903	0.107692	0.212329	0.1053	1125.54	28	chr6	32041874	.	C	T	1125.54	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.431;DP=334;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1197;MLEAC=4;MLEAF=0.105;MQ=30.66;MQRankSum=-1.501;QD=14.62;ReadPosRankSum=-0.816;SOR=0.415	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,10:28:99:0|1:32041857_C_T:352,0,726:32041857	15	0	4	0
chr6	32041884	32041884	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon12:c.G1807A:p.D603N,TNXB:NM_001365276:exon43:c.G12520A:p.D4174N,TNXB:NM_019105:exon43:c.G12514A:p.D4172N	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	196	1075	234	17	0	268	0.110835	.	.	.	188199	not_provided|not_specified|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.573	.	.	.	0.3540	0.3552	0.2576	0.2614	0.25	0.3279	0.3235	0.3705	0.0028815	75	26028	rs200523717	0.0936	0.1128	0.0868	0.0996	0.1959	0.0929	0.0926	0.1926	0.1913	0.1491	0.0685	0.1155	0.0517	0.0767	0.0855	0.0816	0.0909	0.1959	0.0934	0.1198	0.0902	0.0970	0.1735	0.0916	0.0909	0.1588	0.1531	0.1512	0.0543	0.0817	0.0987	0.0567	0.0481	0.0455	0.0740	0.0915	0.1735	0.0	0.91255	D	0.013	0.65728	D	.	.	.	.	.	.	0.000063	0.52346	D	0.000000	0.996006	0.53665	D	.	.	.	-2.09	0.86077	D	-3.33	0.76655	D	0.197	0.60241	0.625	0.92223	D	0.742	0.91206	D	10	0.008031756	0.00182	T	.	.	.	0.573	0.82686	.	.	.	.	0.6407622812908406	0.64011	2.90588491431	0.99094	0.832190692425	0.86898	D	0.145862	0.48318	T	-0.011318	0.50081	T	-0.254034	0.49419	T	0.0173785942299874	0.00476	T	0.856614	0.67171	D	0.72789073	0.79605	0.6560945	0.79863	0.72789073	0.79606	0.6560945	0.79864	-9.574	0.71400	D	0.1226877263887742	0.11790	0.685	0.72405	P	.;.;.;.;.	.;.;.;.;.	5.229507	0.87781	29.4	0.99892685643528023	0.96666	0.96837	0.71207	D	AEFGI	0.734139	0.68036	D	0.721571237210364	0.81047	7.431562	0.669935722984053	0.80102	7.224991	0.998872174677663	0.37868	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	5.028000	0.63895	.	.	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.619	0.84780	923	0.18507	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.190000	0.125000	0.195980	0.058140	0.000000	0.171875	0.163793	0.272059	0.1053	1000.81	26	chr6	32041884	.	C	T	1000.81	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.908;DP=300;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1247;MLEAC=4;MLEAF=0.105;MQ=30.98;MQRankSum=-1.542;QD=14.72;ReadPosRankSum=-0.66;SOR=0.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,8:26:99:0|1:32041857_C_T:269,0,732:32041857	15	0	4	0
chr6	42721955	42721955	T	C	exonic	PRPH2	.	nonsynonymous SNV	PRPH2:NM_000322:exon1:c.A380G:p.E127G	Choriodal dystrophy, central areolar 2, Autosomal dominant;Leber congenital amaurosis 18, Autosomal recessive, Autosomal dominant;Macular dystrophy, patterned, 1, Autosomal dominant;Macular dystrophy, vitelliform, 3, Autosomal dominant;Retinitis pigmentosa 7 and digenic, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	962026	PRPH2-related_disorder|not_provided|Stargardt_disease|Cone-rod_dystrophy	MedGen:CN239395|MedGen:C3661900|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.451	0.0771473730821	.	0.000399361	0.0005	0	8.64e-05	0.0001	0	1.498e-05	0	0.0032	0.0003752	58	154602	rs543703718	0.0002	0.0002	9.528e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	2.236e-05	0	2.519e-05	0	0.0002	1.799e-05	0.0001	0.0029	9.855e-05	9.845e-05	7.714e-05	0.0001	0.0025	6.006e-05	4.879e-05	0.0014	0.0011	2.409e-05	0	0	0	0	0	0	2.941e-05	0	0.0025	0.008	0.58626	D	0.012	0.63918	D	.	.	.	.	.	.	0.000005	0.62929	D	0.144074	0.999997	0.58761	D	.	.	.	-1.39	0.80387	T	-4.22	0.75854	D	0.207	0.22998	-0.2412	0.76595	T	0.452	0.78597	T	10	0.01619196	0.00341	T	0.077147	0.72702	D	0.451	0.75143	0.521	0.62368	0.910693639176	0.90979	0.7347325705043225	0.73418	0.487374460136	0.47561	0.426002860069	0.28661	T	.	.	.	-0.223103	0.17570	T	-0.0978635	0.63563	T	0.133662187312463	0.15716	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.39999	B	.	.	3.643317	0.51665	23.1	0.99852907423280257	0.93191	0.99530	0.97121	D	AEFDBI	0.928544	0.91292	D	0.348703693679775	0.58671	4.040817	0.478499057057429	0.66567	4.968994	0.999999999997072	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	6.08	6.08	0.98982	6.240000	0.72321	6.112000	0.53677	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.0:1.0	16.643	0.84991	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	9702.33	768	chr6	42721955	.	T	C	9702.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.365;DP=2296;ExcessHet=0;FS=0.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.107;SOR=0.748	GT:AD:DP:GQ:PL	0/1:401,367:768:99:9716,0,10508	18	0	1	0
chr6	42963890	42963893	TTTA	-	UTR3	PEX6	NM_001316313:c.*445_*442delTAAA;NM_000287:c.*445_*442delTAAA	.	.	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	639	398	139	346	0	831	0.510756	.	.	.	300174	not_provided|PEX6_POLYMORPHISM|not_specified|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.647364	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs144286892	0.5727	0.5907	0.5681	0.5768	0.9184	0.5710	0.5703	0.9056	0.9003	0.9184	0.5473	0.5051	0.3599	0.5005	0.6168	0.5761	0.5928	0.6450	0.6587	0.6629	0.6658	0.6513	0.9162	0.6553	0.6538	0.9083	0.9051	0.9162	0.6826	0.5830	0.5087	0.3234	0.5061	0.5810	0.5796	0.6463	0.6385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	2126.6	5	chr6	42963889	.	GTTTA	G	2126.6	.	AC=22;AF=0.579;AN=38;BaseQRankSum=-0.524;DP=118;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.2455;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=30.38;ReadPosRankSum=-1.036;SOR=1.3	GT:AD:DP:GQ:PL	0/1:1,4:5:30:158,0,30	5	8	6	0
chr6	110101728	110101728	G	A	exonic	WASF1	.	nonsynonymous SNV	WASF1:NM_001024936:exon8:c.C1382T:p.T461I,WASF1:NM_001024934:exon9:c.C1382T:p.T461I,WASF1:NM_001024935:exon9:c.C1382T:p.T461I,WASF1:NM_003931:exon10:c.C1382T:p.T461I	.	423	1093	6	0	0	6	0.00273723	.	.	.	2820626	not_provided|Neurodevelopmental_disorder_with_absent_language_and_variable_seizures|WASF1-related_disorder	MedGen:C3661900|MONDO:MONDO:0032876,MedGen:C5231469,OMIM:618707|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.067	0.00129580696571	0.0011	0.000798722	0.0011	0	0.0010	0	0	0.0013	0.0011	0.0020	0.0011061	171	154602	rs142151316	0.0014	0.0014	0.0014	0.0014	0.0095	0.0013	0.0013	0.0075	0.0068	0.0003	0.0013	0.0002	0	3.744e-05	0.0095	0.0015	0.0011	0.0020	0.0011	0.0010	0.0011	0.0010	0.0027	0.0009	0.0009	0.0016	0.0014	0.0003	0	0.0022	0.0003	0	0	0.0136	0.0014	0	0.0027	0.346	0.12469	T	0.432	0.13634	T	0.0	0.02946	B	0.0	0.01387	B	0.403076	0.13098	N	0.754903	0.872816	0.28179	N	-0.345	0.03330	N	0.87	0.46412	T	-0.24	0.10833	N	0.088	0.10198	-1.0602	0.11706	T	0.029	0.12278	T	10	0.00537017	0.00118	T	0.001296	0.01784	T	0.067	0.19503	.	.	0.082315109003	0.07666	0.1895082179061291	0.18868	0.602311428291	0.55246	0.559659183025	0.47219	T	0.054702	0.29799	T	-0.58925	0.00169	T	-0.61824	0.11323	T	0.0173724462642495	0.00475	T	0.660634	0.26999	T	0.030900199	0.02834	0.060056202	0.11374	0.03827701	0.05070	0.053160295	0.08900	-4.185	0.26534	T	.	.	0.085	0.10062	B	.;.;.;.;.	.;.;.;.;.	2.902055	0.38468	20.7	0.98986952026603792	0.49861	0.81325	0.40752	D	AEFDGBCI	0.265734	0.38280	N	-0.100797120824148	0.37357	2.172314	0.146155745931788	0.46938	2.931797	0.999317816202909	0.39113	0.706548	0.73137	0	0.659037	0.61890	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	1.759000	0.38049	7.532000	0.59933	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.1516:0.0:0.8484:0.0	10.248	0.42532	567	0.70732	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1941.33	130	chr6	110101728	.	G	A	1941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.273;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=1.45;SOR=0.725	GT:AD:DP:GQ:PL	0/1:57,73:130:99:1955,0,1423	18	0	1	0
chr6	131847856	131847856	-	GT	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	.	.	.	.	.	.	.	.	.	306046	Arterial_calcification,_generalized,_of_infancy,_1|not_provided|Hypophosphatemic_Rickets,_Recessive|not_specified	MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MedGen:C3661900|MedGen:CN239452|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0099124	258	26028	rs879243445	0.1164	0.1420	0.1109	0.1218	0.2260	0.1159	0.1156	0.2219	0.2202	0.0541	0.1701	0.1677	0.2260	0.1618	0.1174	0.1025	0.1337	0.1540	0.2005	0.2032	0.1967	0.2045	0.3235	0.1985	0.1977	0.3101	0.3047	0.0963	0.1496	0.2623	0.2420	0.3235	0.2116	0.2176	0.2296	0.2147	0.2345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	3351.19	17	chr6	131847856	.	G	GGT	3351.19	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0;DP=625;ExcessHet=3.6106;FS=4.874;InbreedingCoeff=-0.1737;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.168;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,11:17:99:.:.:253,0,111:.	11	0	8	0
chr6	151615542	151615542	G	A	exonic	CCDC170	.	nonsynonymous SNV	CCDC170:NM_025059:exon10:c.G1810A:p.V604I	.	426	448	452	196	0	844	0.485057	.	.	.	165622	not_specified|Estrogen_resistance_syndrome|CCDC170-related_condition	MedGen:CN169374|MONDO:MONDO:0014148,MedGen:C3809250,OMIM:615363,Orphanet:785|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	.	0.3802	0.349441	0.3172	0.5003	0.1910	0.3218	0.1861	0.3212	0.3056	0.3314	0.307053	47471	154602	rs6929137	0.3255	0.3255	0.3250	0.3260	0.4982	0.3247	0.3244	0.4918	0.4892	0.4982	0.2070	0.3629	0.2803	0.1923	0.3932	0.3303	0.3428	0.3334	0.3565	0.3568	0.3642	0.3484	0.4987	0.3540	0.3529	0.4931	0.4907	0.4987	0.2637	0.2723	0.3589	0.3187	0.1773	0.4252	0.3218	0.3667	0.3291	0.356	0.12070	T	0.224	0.25591	T	0.026	0.19406	B	0.015	0.17295	B	0.007735	0.31228	N	0.296403	0.0986944	0.36178	P	1.43	0.35840	L	3.03	0.08898	T	-0.01	0.07155	N	0.018	0.00252	-1.0055	0.28307	T	0.136	0.45241	T	9	0.00022158027	0.00010	T	.	.	.	0.044	0.11924	.	.	.	.	0.072239817166933	0.07160	0.0961944766766	0.10857	0.265175282955	0.05523	T	0.004809	0.04227	T	-0.803418	0.00007	T	-0.78301	0.02364	T	0.00568248394408548	0.00062	T	0.713629	0.32527	T	0.02158561	0.00769	0.03398084	0.02386	0.02158561	0.00769	0.039030753	0.03904	-4.215	0.26968	T	0.6843976527898016	0.76122	0.083	0.09191	B	.	.	1.233171	0.16282	12.44	0.85539978010704987	0.15956	0.53578	0.29406	D	AEFBCI	0.144195	0.26709	N	-0.602800261098824	0.18859	0.9825487	-0.494072335675999	0.22316	1.211517	0.0315713748674104	0.14009	0.516011	0.20929	0	0.573888	0.26702	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	6.16	3.37	0.37692	0.969000	0.28967	5.021000	0.46746	-0.113000	0.14837	0.637000	0.28059	1.000000	0.68203	0.773000	0.36634	0.126:0.1149:0.7591:0.0	9.868	0.40328	938	0.14419	.	CCDC170	Brain_Substantia_nigra	.	.	rs6929137	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.379536	0.357143	0.388587	0.415205	0.500000	0.396552	0.362805	0.337121	0.2368	20234.8	151	chr6	151615542	.	G	A	20234.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.394;DP=1745;ExcessHet=1.1637;FS=1.741;InbreedingCoeff=-0.0192;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.536;SOR=0.582	GT:AD:DP:GQ:PL	0/1:84,67:151:99:1725,0,2111	11	1	7	0
chr6	152294013	152294013	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon93:c.G17584A:p.A5862T,SYNE1:NM_182961:exon94:c.G17797A:p.A5933T	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	3	1500	19	0	0	19	0.00629347	.	.	.	196385	not_specified|not_provided|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.018	0.00736538391642	0.0007	0.000199681	0.0010	0	0.0012	0.0001	0	0.0014	0.0033	0.0005	0.0008926	138	154602	rs113962905	0.0008	0.0008	0.0008	0.0009	0.0108	0.0008	0.0008	0.0086	0.0079	0.0005	0.0013	0.0142	0	0.0001	0.0108	0.0005	0.0023	0.0005	0.0008	0.0008	0.0009	0.0007	0.0006	0.0007	0.0006	0.0004	0.0004	0.0002	0	0.0005	0.0147	0	9.427e-05	0.0136	0.0006	0.0024	0.0006	0.198	0.26192	T	0.153	0.34477	T	0.01	0.15535	B	0.005	0.11217	B	0.006843	0.31758	N	0.139342	0.793572	0.36737	D	0.425	0.12573	N	1.37	0.34253	T	-1.22	0.49352	N	0.124	0.11626	-1.0686	0.09723	T	0.026	0.11220	T	10	0.00496006	0.00106	T	0.007365	0.19523	T	0.018	0.03083	.	.	0.203808441222	0.19973	0.20704882517514758	0.20620	0.130525475997	0.14724	0.350232809782	0.17955	T	0.115213	0.43362	T	-0.49695	0.00595	T	-0.537052	0.18587	T	0.00708253380708282	0.00081	T	0.861914	0.55630	D	0.05951309	0.12104	0.086158104	0.19942	0.060044482	0.12275	0.080463	0.18204	-3.404	0.15110	T	.	.	0.069	0.08081	B	.;.;.;.;.	.;.;.;.;.	2.451546	0.31569	18.78	0.98255732140809338	0.39621	0.88468	0.48410	D	AEFBI	0.117508	0.23016	N	-0.458049244798964	0.23467	1.260463	-0.343890791056661	0.26699	1.476403	0.994501905923458	0.33667	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.49	2.58	0.30011	1.111000	0.30773	1.957000	0.29917	0.599000	0.40250	0.937000	0.32526	0.961000	0.29326	0.957000	0.51019	0.0:0.748:0.0:0.252	9.518	0.38285	905	0.23532	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.040404	0.004076	0.017544	0.000000	0.008621	0.000000	0.000000	0.02632	1020.33	118	chr6	152294013	.	C	T	1020.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=810;ExcessHet=0;FS=4.671;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=-2.227;SOR=1.071	GT:AD:DP:GQ:PL	0/1:74,44:118:99:1034,0,1743	18	0	1	0
chr6	152331113	152331113	G	A	exonic	SYNE1	.	synonymous SNV	SYNE1:NM_033071:exon77:c.C13359T:p.V4453V,SYNE1:NM_182961:exon78:c.C13572T:p.V4524V	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	YES	195834	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	.	.	.	.	.	.	.	.	.	.	0.0008	0.000199681	0.0006	9.617e-05	0.0010	0	0	0.0009	0	0.0003	0.0005433	84	154602	rs111511993	0.0005	0.0005	0.0004	0.0005	0.0102	0.0004	0.0004	0.0081	0.0074	0.0006	0.0007	0.0021	0	9.366e-05	0.0102	0.0004	0.0011	0.0003	0.0004	0.0004	0.0004	0.0005	0.0008	0.0003	0.0003	0.0005	0.0004	0.0002	0	0.0008	0.0017	0	9.434e-05	0.0102	0.0004	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.007553	0.020202	0.005435	0.017544	0.000000	0.008621	0.000000	0.000000	0.02632	2826.33	190	chr6	152331113	.	G	A	2826.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.433;DP=2457;ExcessHet=0;FS=1.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-1.68;SOR=0.734	GT:AD:DP:GQ:PL	0/1:87,103:190:99:2840,0,2250	18	0	1	0
chr6	152334238	152334238	G	A	exonic	SYNE1	.	synonymous SNV	SYNE1:NM_033071:exon76:c.C12351T:p.S4117S,SYNE1:NM_182961:exon77:c.C12564T:p.S4188S	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	195828	Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided	MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.000199681	0.0007	0.0003	0.0005	0.0003	0	0.0010	0	0.0003	0.0005692	88	154602	rs141202420	0.0005	0.0005	0.0004	0.0005	0.0097	0.0004	0.0004	0.0077	0.0069	0.0005	0.0006	0.0020	0.0001	0.0001	0.0097	0.0004	0.0011	0.0002	0.0004	0.0004	0.0004	0.0005	0.0009	0.0003	0.0003	0.0005	0.0004	0.0002	0	0.0009	0.0017	0.0002	9.438e-05	0.0102	0.0004	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.006546	0.025253	0.004076	0.011696	0.000000	0.008621	0.000000	0.000000	0.02632	953.33	99	chr6	152334238	.	G	A	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.316;DP=731;ExcessHet=0;FS=8.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.467;SOR=0.25	GT:AD:DP:GQ:PL	0/1:57,42:99:99:967,0,1553	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	3077.49	4	chr6	152391580	.	G	GAAAAAAA	3077.49	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0.027;DP=997;ExcessHet=2.7716;FS=1.26;InbreedingCoeff=-0.0999;MLEAC=5;MLEAF=0.139;MQ=59.98;MQRankSum=0;QD=6.93;ReadPosRankSum=-1.113;SOR=0.817	GT:AD:DP:GQ:PL	1/1:0,4:4:11:178,11,0	14	1	3	1
chr7	21564256	21564256	G	A	exonic	DNAH11	.	synonymous SNV	DNAH11:NM_001277115:exon6:c.G1053A:p.E351E	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	252673	not_specified|Primary_ciliary_dyskinesia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00239617	0.0022	0	0.0003	0	0	6.01e-05	0.0033	0.0156	0.0018499	286	154602	rs201475447	0.0010	0.0010	0.0006	0.0014	0.0154	0.0010	0.0009	0.0147	0.0144	5.975e-05	0.0001	0	5.039e-05	0	0.0012	3.868e-05	0.0014	0.0154	0.0004	0.0004	0.0002	0.0006	0.0125	0.0003	0.0003	0.0099	0.0090	7.223e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.007576	0.02632	482.33	72	chr7	21564256	.	G	A	482.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=711;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=-1.933;SOR=0.824	GT:AD:DP:GQ:PL	0/1:49,23:72:99:496,0,1100	18	0	1	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	5	243	697	577	0	1851	0.792041	.	.	.	195811	Primary_ciliary_dyskinesia_7|DNAH11-related_disorder|not_provided	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	49728.2	112	chr7	21867834	.	G	GT	49728.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=0.584;DP=1766;ExcessHet=0.1862;FS=1.331;InbreedingCoeff=0.2549;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=31.82;ReadPosRankSum=0.641;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,112:112:99:1|1:21867834_G_GT:4935,337,0:21867834	5	7	7	0
chr7	30633897	30633897	A	-	UTR3	GARS1	NM_001316772:c.*37delA;NM_002047:c.*37delA	.	.	.	.	.	.	.	.	.	.	.	.	.	311094	Peripheral_axonal_neuropathy|not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2	Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4340	0.3441	0.4374	0.3782	0.4914	0.4724	0.4415	0.3535	0.0001153	3	26028	rs70983380	0.4481	0.4561	0.4506	0.4455	0.4627	0.4470	0.4466	0.4612	0.4607	0.3255	0.4260	0.4633	0.3725	0.4512	0.4627	0.4624	0.4401	0.3583	0.5853	0.5832	0.5905	0.5799	0.6886	0.5820	0.5807	0.6833	0.6812	0.4015	0.7719	0.5987	0.7201	0.4922	0.6382	0.6586	0.6886	0.5897	0.4457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	7387.91	11	chr7	30633896	.	TA	T	7387.91	.	AC=15;AF=0.441;AN=34;BaseQRankSum=0.834;DP=713;ExcessHet=6.1876;FS=0;InbreedingCoeff=-0.4249;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=0.087;SOR=0.673	GT:AD:DP:GQ:PL	0/1:5,6:11:91:123,0,91	4	2	11	2
chr7	56019599	56019599	C	-	splicing	PSPH	NM_001370504:exon5:c.275+1G>-;NM_004577:exon5:c.275+1G>-;NM_001370519:exon6:c.275+1G>-;NM_001370508:exon7:c.275+1G>-;NM_001370507:exon6:c.275+1G>-;NM_001370503:exon5:c.275+1G>-;NM_001370506:exon6:c.275+1G>-;NM_001370505:exon6:c.275+1G>-;NM_001370521:exon7:c.275+1G>-;NM_001370520:exon7:c.275+1G>-;NM_001370522:exon6:c.275+1G>-;NM_001370511:exon6:c.275+1G>-;NM_001370510:exon4:c.275+1G>-;NM_001370509:exon4:c.275+1G>-;NM_001370518:exon8:c.275+1G>-;NM_001370517:exon7:c.275+1G>-;NM_001370516:exon6:c.275+1G>-;NM_001370515:exon6:c.275+1G>-;NM_001370514:exon5:c.275+1G>-;NM_001370513:exon6:c.275+1G>-;NM_001370512:exon5:c.275+1G>-	.	.	Phosphoserine phosphatase deficiency, Autosomal recessive	0	1113	409	0	0	409	0.155218	.	.	.	389820	not_provided|Neurometabolic_disorder_due_to_serine_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0018162,MedGen:C5680148,Orphanet:35705|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.0173	0.0010	0.0043	0.0025	0.0014	0.0045	0.0154	0.0112571	293	26028	rs139106189	0.0280	0.1150	0.0264	0.0296	0.2882	0.0277	0.0276	0.2824	0.2801	0.2458	0.0506	0.0260	0.2882	0.0782	0.0707	0.0123	0.0428	0.0570	0.2421	0.2770	0.2385	0.2459	0.4694	0.2399	0.2390	0.4634	0.4610	0.4694	0.0600	0.2217	0.1153	0.4012	0.1785	0.1468	0.1173	0.2195	0.2924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2466.13	26	chr7	56019598	.	AC	A	2466.13	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.03;DP=613;ExcessHet=6.9875;FS=14.75;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=59.4;MQRankSum=-1.455;QD=7.03;ReadPosRankSum=-0.789;SOR=1.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,5:26:99:0|1:56019585_C_A:147,0,867:56019585	9	0	10	0
chr7	74053321	74053322	TG	-	intronic	ELN	.	.	.	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	303342	Cutis_laxa,_autosomal_dominant|not_provided|Supravalvar_aortic_stenosis	MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0481	0.0686	0.0344	0.0563	0.0396	0.0402	0.0484	0.0643	0.0295662	4571	154602	rs781811385	0.0510	0.0565	0.0508	0.0513	0.1009	0.0507	0.0506	0.0980	0.0968	0.1009	0.0498	0.0423	0.0930	0.0625	0.0521	0.0466	0.0556	0.0644	0.0472	0.0476	0.0460	0.0485	0.0883	0.0463	0.0459	0.0859	0.0849	0.0883	0.0180	0.0411	0.0304	0.0554	0.0424	0.0248	0.0256	0.0467	0.0503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	71919.5	110	chr7	74053320	.	CTG	C	71919.5	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.424;DP=4445;ExcessHet=4.0268;FS=0;InbreedingCoeff=-0.2667;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=25.65;ReadPosRankSum=-0.236;SOR=0.711	GT:AD:DP:GQ:PL	0/1:1,38:110:99:2908,1548,1326	14	0	5	0
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	20506.8	40	chr7	92499847	.	CA	C	20506.8	.	AC=29;AF=0.763;AN=38;BaseQRankSum=1.13;DP=1301;ExcessHet=0.3441;FS=1.826;InbreedingCoeff=0.1244;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=0.145;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,36:40:97:.:.:1014,97,0:.	1	11	7	0
chr7	103989356	103989356	-	GCCGCC	UTR5	RELN	NM_173054:c.-1_0insGGCGGC;NM_005045:c.-1_0insGGCGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	74	331	411	457	249	1574	0.666834	.	.	.	135555	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Lissencephaly,_Recessive|not_provided|not_specified	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN239458|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.604233	0.0752	0.0333	0.0078	0.0295	0.0487	0.0216	0.1337	0.2712	0.0001153	3	26028	rs587780434	0.4279	0.4210	0.4270	0.4288	0.6345	0.4270	0.4266	0.6265	0.6232	0.4306	0.2776	0.3620	0.6345	0.3927	0.4386	0.4227	0.4408	0.5133	0.5219	0.5255	0.5206	0.5232	0.7433	0.5188	0.5175	0.7227	0.7143	0.5155	0.4234	0.5423	0.4904	0.7433	0.5017	0.5647	0.5012	0.5010	0.6741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	34711.6	68	chr7	103989356	.	T	TGCCGCC	34711.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=0.381;DP=1696;ExcessHet=1.0583;FS=0.653;InbreedingCoeff=0.0256;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=32.62;ReadPosRankSum=0.008;SOR=0.598	GT:AD:DP:GQ:PL	1/1:0,65:68:99:3078,209,0	3	7	9	0
chr7	107324511	107324511	G	A	exonic	COG5	.	nonsynonymous SNV	COG5:NM_001379516:exon4:c.C323T:p.P108L,COG5:NM_001161520:exon11:c.C1037T:p.P346L,COG5:NM_001379511:exon11:c.C1037T:p.P346L,COG5:NM_001379512:exon11:c.C1037T:p.P346L,COG5:NM_001379513:exon11:c.C1037T:p.P346L,COG5:NM_001379514:exon11:c.C1037T:p.P346L,COG5:NM_006348:exon11:c.C1037T:p.P346L,COG5:NM_181733:exon11:c.C1037T:p.P346L	Congenital disorder of glycosylation, type IIi	124	1394	4	0	0	4	0.00143266	.	.	.	270301	COG5-related_disorder|Inborn_genetic_diseases|not_provided|COG5-congenital_disorder_of_glycosylation	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0254403389719	0.0008	0.000199681	0.0009	0.0009	0.0014	0.0001	0	0.0011	0.0022	0.0001	0.0008085	125	154602	rs143773937	0.0006	0.0006	0.0005	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	0.0004	0.0007	0.0113	7.62e-05	0	0.0017	0.0003	0.0014	0.0002	0.0006	0.0006	0.0007	0.0006	0.0006	0.0005	0.0005	0.0004	0.0003	0.0006	0	0.0005	0.0101	0.0002	0	0	0.0004	0.0005	0	0.029	0.47320	D	0.061	0.45744	T	0.103	0.29693	B	0.017	0.25551	B	0.015353	0.28271	N	0.422656	0.999979	0.53665	D	2.2	0.62015	M	0.44	0.56609	T	-3.68	0.70314	D	0.203	0.27910	-0.8445	0.52345	T	0.168	0.50697	T	10	0.005508989	0.00122	T	0.02544	0.48409	D	0.087	0.25287	.	.	0.56874858234	0.56539	0.28237833917633737	0.28150	0.0638151823165	0.07108	0.288906216621	0.08763	T	0.111347	0.42676	T	-0.363668	0.03927	T	-0.365319	0.37437	T	0.0427339328725148	0.04188	T	0.906609	0.67067	D	0.22645898	0.45327	0.15863706	0.37035	0.22645898	0.45327	0.15863706	0.37035	-6.457	0.49953	T	.	.	0.093	0.13923	B	.;.;.	.;.;.	3.244757	0.44309	21.9	0.978183391629321	0.36174	0.89939	0.50738	D	AEFBI	0.424515	0.48966	N	0.133827866328755	0.48045	3.022048	0.257369859696174	0.53071	3.477843	0.999999788860004	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.71	4.71	0.59010	5.241000	0.65206	7.513000	0.59647	0.669000	0.69127	0.998000	0.41325	1.000000	0.68203	0.945000	0.48827	0.0:0.0:1.0:0.0	16.949	0.86110	622	0.65860	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003040	0.000000	0.005450	0.000000	0.000000	0.000000	0.006173	0.000000	0.02632	252.33	22	chr7	107324511	.	G	A	252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.049;DP=573;ExcessHet=0;FS=1.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-1.355;SOR=0.412	GT:AD:DP:GQ:PL	0/1:10,12:22:99:266,0,211	18	0	1	0
chr7	114663436	114663436	-	T	intronic	FOXP2	.	.	.	Speech-language disorder-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177727	Inborn_genetic_diseases|Childhood_apraxia_of_speech|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3236	0.209465	0.3636	0.1063	0.2943	0.1724	0.4590	0.4369	0.3610	0.3263	0.0001153	3	26028	rs1478553257	0.3837	0.3970	0.3848	0.3826	0.4175	0.3828	0.3824	0.4164	0.4159	0.0938	0.2799	0.2759	0.1190	0.4085	0.1994	0.4175	0.3570	0.3056	0.3203	0.3199	0.3227	0.3178	0.4529	0.3179	0.3169	0.4486	0.4469	0.1010	0.3819	0.3039	0.2802	0.1440	0.4542	0.1910	0.4529	0.2949	0.3137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	8109.15	51	chr7	114663436	.	A	AT	8109.15	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.586;DP=1014;ExcessHet=2.8258;FS=1.106;InbreedingCoeff=-0.1515;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.101;SOR=0.592	GT:AD:DP:GQ:PL	0/1:29,22:51:99:465,0,664	9	1	9	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	2	82	476	962	0	2400	0.936037	.	.	.	135324	Maturity_onset_diabetes_mellitus_in_young|not_specified|Type_2_diabetes_mellitus|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.814271	0.836735	0.841033	0.835294	0.750000	0.793103	0.754601	0.746154	0.8684	64745.1	153	chr7	127611134	.	T	G	64745.1	.	AC=33;AF=0.868;AN=38;BaseQRankSum=0.533;DP=2444;ExcessHet=1.3;FS=0.784;InbreedingCoeff=-0.1515;MLEAC=33;MLEAF=0.868;MQ=60;MQRankSum=0;QD=27.18;ReadPosRankSum=-0.083;SOR=0.559	GT:AD:DP:GQ:PL	1/1:0,153:153:99:4599,459,0	0	14	5	0
chr7	128844965	128844965	G	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon21:c.G3500A:p.R1167H,FLNC:NM_001458:exon21:c.G3500A:p.R1167H	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	0	225	0	1	0	2	0.00442478	.	.	.	833046	Dilated_Cardiomyopathy,_Dominant|Hypertrophic_cardiomyopathy_26|Myofibrillar_myopathy_5|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Cardiovascular_phenotype|not_provided	MedGen:CN239310|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.329	0.08289479312	.	0.000199681	1.662e-05	0.0001	0	0	0	1.505e-05	0	0	1.94e-05	3	154602	rs574074583	1.095e-05	1.094e-05	6.808e-06	1.513e-05	0.0002	6.48e-06	5.25e-06	6.52e-06	5.03e-06	2.987e-05	0	0	0	0	0.0002	1.169e-05	0	1.159e-05	1.969e-05	1.968e-05	1.284e-05	2.684e-05	2.939e-05	5.23e-06	2.45e-06	4.88e-06	1.83e-06	2.405e-05	0	0	0	0	0	0	2.939e-05	0	0	0.335	0.12920	T	0.161	0.31326	T	0.015	0.65571	B	0.014	0.61978	B	0.000010	0.62929	D	0.061394	0.90334	0.36225	D	1.14	0.29013	L	-2.88	0.91533	D	-1.72	0.42191	N	0.22	0.25377	0.256	0.86851	D	0.669	0.88508	D	10	0.14908987	0.28221	T	0.082895	0.73998	D	0.329	0.65126	.	.	0.807189353503	0.80538	0.2922678147816797	0.29139	0.360697941279	0.37734	0.589887738228	0.51478	T	0.433589	0.78097	T	-0.0876558	0.38461	T	-0.18216	0.56323	T	0.301628530025482	0.25071	T	0.69953	0.31049	T	0.086337075	0.20063	0.046937663	0.06651	0.086337075	0.20063	0.046937663	0.06651	-6.449	0.50410	T	0.1798978336925167	0.23126	0.071	0.03849	B	.;.	.;.	4.611068	0.73122	25.9	0.99186806470744227	0.54848	0.94426	0.61127	D	AEFBCI	0.490430	0.52791	N	0.00103235339715214	0.41903	2.514784	0.116020557208677	0.45367	2.801185	0.999990041750193	0.74766	0.719381	0.83141	0	0.573888	0.26702	0	0.645312	0.48771	0	0.733575	0.97253	0	.	.	5.56	4.68	0.58319	3.060000	0.49648	7.687000	0.65600	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.667000	0.33166	0.2228:0.0:0.7772:0.0	8.898	0.34638	593	0.68665	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2345.33	181	chr7	128844965	.	G	A	2345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.3;DP=949;ExcessHet=0;FS=4.381;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.04;SOR=1.051	GT:AD:DP:GQ:PL	0/1:101,80:181:99:2359,0,2528	18	0	1	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	.	2137883	PODXL-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0022	0	0	0	0	0.0001229	19	154602	rs201551993	2.992e-05	3.42e-05	2.532e-05	3.464e-05	0.0009	2.24e-05	1.987e-05	0.0007	0.0006	0	0	0	0.0009	0	0	9.242e-07	8.58e-05	3.769e-05	6.566e-05	6.562e-05	3.854e-05	9.4e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4118	3330.8	123	chr7	131505863	.	C	T	3330.8	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.702;DP=1547;ExcessHet=17.0548;FS=216.424;InbreedingCoeff=-0.6539;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.71;ReadPosRankSum=1.02;SOR=12.236	GT:AD:DP:GQ:PL	0/1:85,38:123:99:140,0,1554	3	0	14	2
chr7	140734797	140734797	-	A	intronic	BRAF	.	.	.	Adenocarcinoma of lung, somatic;Cardiofaciocutaneous syndrome, Autosomal dominant;Colorectal cancer, somatic (3);LEOPARD syndrome 3, Autosomal dominant;Melanoma, malignant, somatic (3);Nonsmall cell lung cancer, somatic (3);Noonan syndrome 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	302001	not_specified|Noonan_syndrome_with_multiple_lentigines|Noonan_syndrome|Cardio-facio-cutaneous_syndrome	MedGen:CN169374|MONDO:MONDO:0007893,MedGen:C0175704,OMIM:PS151100,Orphanet:500|MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MONDO:MONDO:0015280,MedGen:C1275081,OMIM:PS115150,Orphanet:1340	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.8742	0.7482	0.9238	0.9181	0.8901	0.8737	0.8776	0.8631	0.0001153	3	26028	rs397813649	0.8401	0.7641	0.8452	0.8349	0.8519	0.8386	0.8379	0.8502	0.8495	0.6242	0.8409	0.8259	0.8332	0.8231	0.8187	0.8519	0.8244	0.7675	0.8154	0.7916	0.8130	0.8183	0.8832	0.8111	0.8093	0.8681	0.8619	0.6770	0.7105	0.8832	0.8663	0.8820	0.8731	0.8107	0.8558	0.8501	0.8560	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	2115.83	8	chr7	140734797	.	G	GA	2115.83	.	AC=24;AF=0.857;AN=28;BaseQRankSum=0.385;DP=146;ExcessHet=0;FS=5.721;InbreedingCoeff=0.6727;MLEAC=29;MLEAF=1;MQ=60;MQRankSum=0;QD=29.45;ReadPosRankSum=1.65;SOR=2.099	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,8:8:24:1|1:140734787_AAAAAAAAAAG_A:234,24,0:140734787	2	12	0	5
chr7	146116828	146116828	T	G	intergenic	TPK1;CNTNAP2	dist=1280775;dist=657443	.	.	.	6	1442	70	4	0	78	0.0263336	.	.	.	140540	Pitt-Hopkins-like_syndrome|Cortical_dysplasia-focal_epilepsy_syndrome|not_specified	MONDO:MONDO:0016377,MedGen:C4751168|MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0135	0	0.0055	0	0	0.0080	0.0154	0.0181	0.0016494	255	154602	rs549396215	0.0021	0.0020	0.0016	0.0026	0.0169	0.0020	0.0020	0.0161	0.0158	0.0004	0.0018	0.0129	2.862e-05	9.778e-05	0.0165	0.0007	0.0038	0.0169	0.0018	0.0018	0.0015	0.0022	0.0178	0.0016	0.0016	0.0148	0.0136	0.0002	0	0.0031	0.0150	0	0	0.0136	0.0011	0.0033	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1077.33	79	chr7	146116828	.	T	G	1077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.411;DP=802;ExcessHet=0;FS=1.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=1.37;SOR=0.989	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1091,0,834	18	0	1	0
chr7	154053047	154053047	A	T	exonic	DPP6	.	nonsynonymous SNV	DPP6:NM_001290253:exon1:c.A227T:p.D76V,DPP6:NM_130797:exon1:c.A227T:p.D76V	Mental retardation, autosomal dominant 33	87	1370	63	2	0	67	0.0238689	.	.	.	247021	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.126	.	.	0.00159744	0.0574	0	.	.	.	0.075	0	0.0357	0.0011837	183	154602	rs572667303	0.0148	0.0110	0.0149	0.0148	0.0300	0.0146	0.0145	0.0241	0.0220	0.0020	0.0145	0.0261	9.518e-05	0.0042	0.0300	0.0155	0.0146	0.0056	0.0108	0.0107	0.0116	0.0099	0.0158	0.0104	0.0102	0.0147	0.0144	0.0030	0	0.0158	0.0331	0	0.0022	0.0204	0.0155	0.0188	0.0055	0.025	0.47320	D	0.154	0.32040	T	0.119	0.26641	B	0.041	0.23986	B	0.000000	0.00162	N	7739.210000	0.935346	0.81001	D	.	.	.	0.92	0.44461	T	-0.45	0.14782	N	0.242	0.40665	-1.1072	0.03321	T	0.086	0.33354	T	9	0.0031171143	0.00052	T	.	.	.	0.126	0.34673	.	.	0.418159628064	0.41432	0.17424710242975305	0.17343	0.589955309425	0.54475	0.911425590515	0.97604	D	0.017692	0.14390	T	-0.463032	0.00941	T	-0.425566	0.30439	T	0.0210366499213472	0.00804	T	.	.	.	0.20180008	0.42203	0.14007637	0.33402	0.20180008	0.42203	0.14007637	0.33401	-6.34	0.49039	T	.	.	0.378	0.58334	A	.;.	.;.	2.754137	0.36104	20.2	0.78847230867066109	0.12479	0.61112	0.31390	D	AEFDBIJ	0.114985	0.22627	N	-0.744231118289648	0.14791	0.7397859	-0.715476853498762	0.16575	0.8775067	0.0338047295253189	0.14123	0.487112	0.14033	0	0.573888	0.26702	0	0.608004	0.38603	0	0.564101	0.26826	0	.	.	3.2	1.98	0.25351	2.408000	0.44227	7.206000	0.57810	0.519000	0.23678	0.999000	0.42656	1.000000	0.68203	0.973000	0.55318	0.8081:0.1919:0.0:0.0	8.763	0.33848	985	0.02828	.;.	.	.	.	.	.	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	0.012048	0.000000	0.000000	0.027397	0.000000	0.000000	0.018987	0.000000	0.05263	451.83	14	chr7	154053047	.	A	T	451.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.874;DP=534;ExcessHet=0.119;FS=3.179;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.83;SOR=1.532	GT:AD:DP:GQ:PL	0/1:5,9:14:99:233,0,130	17	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	858.52	3	chr8	27803549	.	T	TACAC	858.52	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-0.431;DP=85;ExcessHet=0.0013;FS=0;InbreedingCoeff=0.4121;MLEAC=7;MLEAF=0.206;MQ=60;MQRankSum=0;QD=33.02;ReadPosRankSum=-1.15;SOR=3.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:27803549_T_TACAC:81,0,36:27803549	13	3	1	2
chr9	2622146	2622146	-	CGG	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	272060	not_specified|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1|Congenital_cerebellar_hypoplasia|not_provided	MedGen:CN169374|MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1638	.	0.3376	0.1818	0.25	0.0139	0.125	0.3308	0.2105	0.3583	0.0206983	3200	154602	rs555425887	0.2927	0.2905	0.2899	0.2955	0.3418	0.2919	0.2915	0.3381	0.3365	0.0877	0.2478	0.3286	0.0443	0.3460	0.2522	0.3019	0.2795	0.3418	0.2545	0.2556	0.2528	0.2563	0.3664	0.2523	0.2515	0.3521	0.3463	0.0964	0.5619	0.2423	0.3682	0.0533	0.3910	0.2345	0.3296	0.2564	0.3664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	24626.0	31	chr9	2622146	.	A	ACGG	24626.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.684;DP=1020;ExcessHet=0.3394;FS=0.629;InbreedingCoeff=0.1815;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=30.94;ReadPosRankSum=0.486;SOR=0.619	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1353,93,0	9	2	8	0
chr9	72836079	72836079	G	C	UTR3	TMC1	NM_138691:c.*106G>C	.	.	Deafness, autosomal dominant 36, Autosomal dominant;Deafness, autosomal recessive 7, Autosomal recessive	5	1471	41	5	0	51	0.0170398	.	.	.	319074	Autosomal_dominant_nonsyndromic_hearing_loss_36|Autosomal_recessive_nonsyndromic_hearing_loss_7|not_provided	MONDO:MONDO:0011708,MedGen:C1847626,OMIM:606705,Orphanet:90635|MONDO:MONDO:0010967,MedGen:C1832978,OMIM:600974,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0118	0.0018	0.0070	0	0.0400	0.0144	0.0105	0.0055	0.0109313	1690	154602	rs79830675	0.0129	0.0133	0.0132	0.0127	0.0172	0.0127	0.0127	0.0143	0.0140	0.0022	0.0070	0.0053	0	0.0316	0.0172	0.0143	0.0118	0.0042	0.0111	0.0111	0.0096	0.0126	0.0139	0.0106	0.0104	0.0131	0.0128	0.0025	0.0186	0.0084	0.0032	0	0.0418	0.0204	0.0139	0.0090	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	7614.83	336	chr9	72836079	.	G	C	7614.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.468;DP=1812;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.274;SOR=0.672	GT:AD:DP:GQ:PL	0/1:164,172:336:99:3655,0,3598	17	0	2	0
chr9	91724254	91724254	C	T	exonic	ROR2	.	nonsynonymous SNV	ROR2:NM_004560:exon9:c.G2240A:p.R747Q	Brachydactyly, type B1, Autosomal dominant;Robinow syndrome, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	270530	Autosomal_recessive_Robinow_syndrome|Brachydactyly_type_B1|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310,Orphanet:1507,Orphanet:97360|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000,Orphanet:572385,Orphanet:93383|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.369	0.0421875816267	0.0002	.	0.0002	0	0.0002	0	0	0.0002	0.0011	0	0.0001488	23	154602	rs201155263	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0001	0.0003	0	5.038e-05	1.895e-05	0.0007	0.0001	0.0002	0.0001	0.0001	0.0001	0.0002	9.42e-05	0.0002	8.668e-05	7.259e-05	0.0001	0.0001	0	0	0.0002	0	0	0	0	0.0002	0	0.0002	0.126	0.27194	T	0.161	0.53426	T	0.933	0.52105	P	0.119	0.32162	B	0.028164	0.25643	N	0.174306	1	0.81001	D	1.895	0.50365	L	-1.11	0.77593	T	-2.09	0.47683	N	0.764	0.76203	-0.5805	0.65597	T	0.225	0.58932	T	10	0.6539493	0.69764	D	0.042188	0.60330	D	0.369	0.68844	.	.	0.908800716689	0.90788	0.6626708128130001	0.66204	0.274973453557	0.29980	0.506133675575	0.39682	T	0.254724	0.62542	T	-0.146158	0.28916	T	-0.146001	0.59596	T	0.0613683672316156	0.07383	T	0.989451	0.96526	D	0.5991716	0.72647	0.276091	0.53551	0.5991716	0.72648	0.276091	0.53550	-10.027	0.74073	D	0.3318399739107717	0.42984	0.148	0.32637	B	.;.	.;.	4.297766	0.65597	24.9	0.99740561205511624	0.83482	0.91769	0.54224	D	AEFDBCI	0.756550	0.69578	D	0.0180893088107864	0.42677	2.575993	0.0494384301167425	0.42046	2.536289	0.999999980949949	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.65	4.65	0.57626	6.083000	0.70975	7.624000	0.62436	0.524000	0.24156	0.977000	0.34929	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	17.751	0.88344	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1898.33	127	chr9	91724254	.	C	T	1898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.47;DP=1486;ExcessHet=0;FS=2.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=-0.83;SOR=0.978	GT:AD:DP:GQ:PL	0/1:61,66:127:99:1912,0,1467	18	0	1	0
chr9	95447366	95447366	C	T	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_001354918:exon22:c.G3734A:p.R1245Q,PTCH1:NM_000264:exon23:c.G3890A:p.R1297Q,PTCH1:NM_001083602:exon23:c.G3692A:p.R1231Q,PTCH1:NM_001083603:exon23:c.G3887A:p.R1296Q,PTCH1:NM_001083604:exon23:c.G3437A:p.R1146Q,PTCH1:NM_001083605:exon23:c.G3437A:p.R1146Q,PTCH1:NM_001083606:exon23:c.G3437A:p.R1146Q,PTCH1:NM_001083607:exon23:c.G3437A:p.R1146Q	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	50101	Gorlin_syndrome|not_provided|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	0.0788025497676	.	.	8.556e-05	0	0	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs386833412	5.271e-05	5.336e-05	3.95e-05	6.605e-05	0.0002	4.28e-05	3.955e-05	4.7e-05	4.282e-05	2.99e-05	0	0	0	0	0.0002	5.847e-05	6.626e-05	6.958e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	6.543e-05	8.14e-06	5.14e-06	.	.	2.414e-05	0	6.543e-05	0	0	0	0	1.47e-05	0.0005	0	0.315	0.13971	T	0.041	0.52389	D	0.0	0.07471	B	0.0	0.04355	B	0.549354	0.11452	N	0.790412	0.954741	0.26358	N	-0.915	0.01320	N	-2.64	0.90210	D	-0.32	0.12283	N	0.147	0.16864	-0.6655	0.62031	T	0.432	0.77368	T	10	0.032107353	0.01357	T	0.078803	0.73088	D	0.162	0.41843	0.176	0.08257	0.512421693248	0.50881	0.22248716009403194	0.22163	0.0877359232739	0.09904	0.235143080354	0.02370	T	0.248003	0.61774	T	-0.253371	0.13687	T	-0.39622	0.33825	T	0.0579169997354487	0.06836	T	0.766923	0.39491	T	0.06759498	0.14652	0.033505064	0.02258	0.07287865	0.16245	0.036771815	0.03190	-3.744	0.19970	T	.	.	0.068	0.03698	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.520437	0.19520	14.30	0.99159320477193436	0.54043	0.02621	0.07205	N	AEFDBI	0.035765	0.04658	N	-1.054797881961	0.07493	0.348302	-0.998884236434481	0.09810	0.4902579	0.999943276459394	0.47345	0.722319	0.85440	0	0.708844	0.79440	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.64	0.467	0.15933	0.147000	0.16021	0.356000	0.17526	-0.198000	0.09030	0.013000	0.18845	0.026000	0.21063	0.546000	0.30079	0.0:0.3645:0.0:0.6355	6.793	0.22892	358	0.85037	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	446.33	51	chr9	95447366	.	C	T	446.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.554;DP=720;ExcessHet=0;FS=1.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=0.343;SOR=0.518	GT:AD:DP:GQ:PL	0/1:29,22:51:99:460,0,744	18	0	1	0
chr9	105601139	105601139	A	G	intronic	FKTN	.	.	.	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	229	1243	42	8	0	58	0.0227987	0.0024	0.032	.	44804	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4|Walker-Warburg_congenital_muscular_dystrophy|Cardiomyopathy|not_provided|Dilated_cardiomyopathy_1X|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0009678,MedGen:C0410174,OMIM:253800,Orphanet:272,Orphanet:588,Orphanet:899|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0012704,MedGen:C1969024,OMIM:611615,Orphanet:154|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0087	0.00499201	0.0168	0.0016	0.0103	0.0002	0.0111	0.0202	0.0152	0.0286	0.0110865	1714	154602	rs41277795	0.0104	0.0106	0.0096	0.0112	0.0248	0.0102	0.0102	0.0239	0.0235	0.0018	0.0071	0.0181	7.639e-05	0.0078	0.0239	0.0099	0.0105	0.0248	0.0085	0.0085	0.0082	0.0089	0.0203	0.0081	0.0080	0.0170	0.0158	0.0019	0	0.0112	0.0184	0.0004	0.0095	0.0238	0.0110	0.0118	0.0203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	5050.37	73	chr9	105601139	.	A	G	5050.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.121;DP=942;ExcessHet=1.3;FS=1.846;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.434;SOR=0.549	GT:AD:DP:GQ:PL	0/1:30,43:73:99:1001,0,754	14	0	5	0
chr9	105615421	105615421	G	A	intronic	FKTN	.	.	.	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	0	1419	99	4	0	107	0.0363328	.	.	.	99430	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4|not_specified|Cardiovascular_phenotype|not_provided|Walker-Warburg_congenital_muscular_dystrophy|Dilated_cardiomyopathy_1X	MONDO:MONDO:0009678,MedGen:C0410174,OMIM:253800,Orphanet:272,Orphanet:588,Orphanet:899|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MONDO:MONDO:0012704,MedGen:C1969024,OMIM:611615,Orphanet:154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0089	0.00499201	0.0118	0.0016	0.0059	0.0002	0.0089	0.0135	0.0099	0.0232	0.0112612	1741	154602	rs76180538	0.0105	0.0106	0.0099	0.0112	0.0237	0.0104	0.0103	0.0229	0.0225	0.0019	0.0072	0.0183	0.0001	0.0078	0.0227	0.0102	0.0108	0.0237	0.0085	0.0085	0.0082	0.0088	0.0201	0.0081	0.0080	0.0169	0.0157	0.0018	0	0.0112	0.0185	0.0002	0.0095	0.0238	0.0110	0.0118	0.0201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	5667.37	77	chr9	105615421	.	G	A	5667.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.16;DP=940;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.087;SOR=0.665	GT:AD:DP:GQ:PL	0/1:37,40:77:99:982,0,912	14	0	5	0
chr9	105635214	105635214	A	G	exonic	FKTN	.	nonsynonymous SNV	FKTN:NM_006731:exon10:c.A1336G:p.N446D,FKTN:NM_001079802:exon11:c.A1336G:p.N446D,FKTN:NM_001351501:exon11:c.A940G:p.N314D,FKTN:NM_001351496:exon12:c.A1336G:p.N446D,FKTN:NM_001351500:exon12:c.A940G:p.N314D,FKTN:NM_001351497:exon13:c.A1267G:p.N423D,FKTN:NM_001351499:exon13:c.A940G:p.N314D,FKTN:NM_001351502:exon14:c.A940G:p.N314D	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	0	1418	99	5	0	109	0.0370119	.	.	.	44802	Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|not_provided|Dilated_cardiomyopathy_1X|Cardiovascular_phenotype|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012704,MedGen:C1969024,OMIM:611615,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0009678,MedGen:C0410174,OMIM:253800,Orphanet:272,Orphanet:588,Orphanet:899	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.300	.	0.0089	0.00519169	0.0119	0.0016	0.0060	0.0001	0.0091	0.0135	0.0099	0.0233	0.0113453	1754	154602	rs41313301	0.0106	0.0106	0.0100	0.0112	0.0239	0.0105	0.0104	0.0230	0.0227	0.0019	0.0071	0.0183	7.557e-05	0.0079	0.0232	0.0102	0.0109	0.0239	0.0085	0.0085	0.0082	0.0089	0.0205	0.0081	0.0080	0.0173	0.0160	0.0018	0	0.0112	0.0184	0.0002	0.0096	0.0238	0.0111	0.0118	0.0205	0.012	0.54683	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	0.87	0.46412	T	-3.58	0.69118	D	0.585	0.60579	-0.5018	0.68585	T	0.229	0.59384	T	10	0.009369671	0.00212	T	.	.	.	0.300	0.62068	.	.	.	.	0.8684169532120566	0.86806	0.221170247473	0.24664	0.498468160629	0.38615	T	0.758453	0.93437	D	-0.428331	0.01517	T	-0.370459	0.36836	T	0.0199803224639138	0.00699	T	0.858114	0.54842	D	0.4999224	0.67091	0.5050974	0.71394	0.4950371	0.66803	0.505191	0.71401	-8.868	0.66843	D	0.7717772321367129	0.85268	0.593	0.68599	P	.;.	.;.	4.572964	0.72174	25.8	0.99814950412451908	0.89885	0.98813	0.87189	D	AEFBI	0.892999	0.83050	D	0.886677694834095	0.91093	10.71156	0.867387695774653	0.93989	12.42429	0.999997937782057	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	8.886000	0.92075	11.219000	0.89698	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	15.770	0.77928	946	0.12043	.;.	FKTN|FKTN|FKTN|FKTN|FKTN|FKTN	Adipose_Subcutaneous|Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.024673	0.025253	0.019022	0.032164	0.000000	0.025862	0.030488	0.022727	0.1316	8603.37	192	chr9	105635214	.	A	G	8603.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.795;DP=1178;ExcessHet=1.3;FS=1.773;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.897;SOR=0.541	GT:AD:DP:GQ:PL	0/1:80,112:192:99:2665,0,1999	14	0	5	0
chr9	114504573	114504573	T	A	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001173425:exon1:c.A229T:p.T77S,WHRN:NM_015404:exon1:c.A229T:p.T77S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	.	54836	Autosomal_recessive_nonsyndromic_hearing_loss_31|not_specified|not_provided|Usher_syndrome_type_2D	MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.129	.	0.0079	0.00698882	0.0078	0.0021	0.0022	0.0001	0.0011	0.0097	0.0060	0.0144	0.0071344	1103	154602	rs56204273	0.0097	0.0097	0.0095	0.0099	0.0135	0.0095	0.0095	0.0129	0.0126	0.0016	0.0035	0.0072	0	0.0016	0.0085	0.0107	0.0094	0.0135	0.0065	0.0065	0.0066	0.0064	0.0164	0.0062	0.0060	0.0135	0.0124	0.0019	0	0.0071	0.0049	0.0004	0.0023	0.0136	0.0098	0.0076	0.0164	0.279	0.20306	T	0.226	0.39645	T	0.129	0.40973	B	0.047	0.35394	B	0.000000	0.84330	D	0.000000	0.999603	0.47795	D	1.32	0.33002	L	3.15	0.17271	T	-0.19	0.23590	N	0.081	0.05670	-1.0032	0.28992	T	0.017	0.06950	T	10	0.006608993	0.00150	T	.	.	.	0.129	0.35316	0.441	0.49648	0.298403945805	0.29456	0.3940285296724342	0.39317	0.793338478549	0.65913	0.856729507446	0.90625	D	0.083708	0.37114	T	-0.535491	0.00356	T	-0.530296	0.19258	T	0.00992235502857127	0.00132	T	0.781022	0.41604	T	0.29710254	0.52643	0.31184223	0.57189	0.21682875	0.44150	0.30620906	0.56646	-7.491	0.57547	T	.	.	0.417	0.60485	A	.;.	.;.	3.444130	0.47929	22.5	0.96962349148796656	0.31783	0.89494	0.49994	D	AEFDBHCIJ	0.573713	0.57679	D	-0.0154655716658005	0.41157	2.456709	0.151065372710964	0.47200	2.953709	0.999999999999996	0.74766	0.72623	0.87236	0	0.851219	0.99844	0	0.594344	0.31042	0	0.603991	0.37454	0	.	.	5.45	5.45	0.79688	1.683000	0.37256	7.867000	0.71756	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1373:0.0:0.0:0.8627	11.214	0.48045	720	0.55521	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013105	0.000000	0.013587	0.014620	0.050000	0.008621	0.006135	0.037879	0.02632	2715.33	187	chr9	114504573	.	T	A	2715.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.31;DP=909;ExcessHet=0;FS=0.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.143;SOR=0.772	GT:AD:DP:GQ:PL	0/1:78,109:187:99:2729,0,2011	18	0	1	0
chr9	132328623	132328623	T	C	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon10:c.A2975G:p.K992R,SETX:NM_001351528:exon10:c.A2975G:p.K992R,SETX:NM_015046: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	Hereditary_spastic_paraplegia|Spastic_paraplegia|Amyotrophic_lateral_sclerosis_type_4|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|not_specified|not_provided	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:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	0	0	0.012085	0.005051	0.013587	0.011696	0.000000	0.000000	0.021341	0.007576	0.02632	1593.33	158	chr9	132328623	.	T	C	1593.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.083;DP=1083;ExcessHet=0;FS=2.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.755;SOR=0.506	GT:AD:DP:GQ:PL	0/1:94,64:158:99:1607,0,2597	18	0	1	0
chr9	132897614	132897614	A	-	intronic	TSC1	.	.	.	Lymphangioleiomyomatosis;Tuberous sclerosis-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	58145	Tuberous_sclerosis_syndrome|not_provided|Tuberous_sclerosis_1|Hereditary_cancer-predisposing_syndrome|not_specified|Isolated_focal_cortical_dysplasia_type_II	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.342652	0.2827	0.3340	0.2770	0.2973	0.3197	0.2811	0.2717	0.2332	0.0002689	7	26028	rs118203716	0.1067	0.1211	0.1068	0.1066	0.1678	0.1063	0.1061	0.1637	0.1620	0.1678	0.1293	0.1160	0.0999	0.1215	0.1610	0.1053	0.1095	0.0811	0.0585	0.0528	0.0588	0.0581	0.0633	0.0572	0.0567	0.0615	0.0608	0.0601	0.0667	0.0514	0.0821	0.0102	0.0409	0.0750	0.0633	0.0607	0.0347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	8852.51	27	chr9	132897613	.	GA	G	8852.51	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.341;DP=2102;ExcessHet=13.8672;FS=0.626;InbreedingCoeff=-0.52;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-0.037;SOR=0.771	GT:AD:DP:GQ:PL	0/1:8,16:27:90:335,0,90	4	0	15	0
chr9	133568656	133568656	G	A	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon15:c.G2142A:p.S714S,ADAMTSL2:NM_014694:exon15:c.G2142A:p.S714S	Geleophysic dysplasia 1, Autosomal recessive	0	1201	295	26	0	347	0.126228	.	.	.	311645	not_specified|Geleophysic_dysplasia_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00315	487	154602	rs11542920	0.0374	0.0374	0.0346	0.0402	0.1108	0.0371	0.0370	0.1090	0.1082	0.0228	0.0220	0.0601	0.0816	0.0235	0.1050	0.0308	0.0399	0.1108	0.0327	0.0327	0.0321	0.0334	0.1063	0.0320	0.0317	0.0987	0.0957	0.0246	0.0230	0.0275	0.0568	0.0623	0.0207	0.0748	0.0320	0.0322	0.1063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.1316	7754.35	156	chr9	133568656	.	G	A	7754.35	.	AC=5;AF=0.132;AN=38;BaseQRankSum=3.05;DP=1009;ExcessHet=0.0506;FS=0.533;InbreedingCoeff=0.3091;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=0.356;SOR=0.763	GT:AD:DP:GQ:PL	0/1:73,83:156:99:2006,0,1705	15	1	3	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V,ADAMTSL2:NM_014694:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	1	295	703	523	0	1749	0.747755	.	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.6053	29638.8	93	chr9	133569476	.	A	G	29638.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.97;DP=1386;ExcessHet=0.0003;FS=0;InbreedingCoeff=0.6696;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=25.62;ReadPosRankSum=0.46;SOR=0.682	GT:AD:DP:GQ:PL	1/1:0,93:93:99:2951,279,0	6	10	3	0
chr9	133569488	133569488	C	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.C2325G:p.S775S,ADAMTSL2:NM_014694:exon16:c.C2325G:p.S775S	Geleophysic dysplasia 1, Autosomal recessive	0	1194	298	30	0	358	0.130371	.	.	.	307339	not_specified|Geleophysic_dysplasia_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028719	444	154602	rs2301606	0.0375	0.0376	0.0348	0.0403	0.1106	0.0373	0.0372	0.1087	0.1079	0.0229	0.0219	0.0599	0.0821	0.0235	0.1056	0.0310	0.0403	0.1106	0.0329	0.0329	0.0322	0.0336	0.1062	0.0321	0.0318	0.0986	0.0956	0.0246	0.0230	0.0276	0.0567	0.0634	0.0207	0.0719	0.0323	0.0321	0.1062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.1316	3940.35	93	chr9	133569488	.	C	G	3940.35	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.84;DP=878;ExcessHet=0.0506;FS=0.427;InbreedingCoeff=0.3091;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.207;SOR=0.649	GT:AD:DP:GQ:PL	0/1:62,31:93:99:724,0,1539	15	1	3	0
chr9	137233404	137233404	G	A	exonic	SLC34A3	.	synonymous SNV	SLC34A3:NM_001177316:exon7:c.G756A:p.Q252Q,SLC34A3:NM_001177317:exon7:c.G756A:p.Q252Q,SLC34A3:NM_080877:exon7:c.G756A:p.Q252Q	Hypophosphatemic rickets with hypercalciuria, Autosomal recessive	1	1505	16	0	0	16	0.00528751	0.9948	0.956	YES	16473	Autosomal_recessive_hypophosphatemic_bone_disease|not_provided|not_specified|SLC34A3-related_disorder	MONDO:MONDO:0009431,MedGen:C1853271,OMIM:241530,Orphanet:157215|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0012	0.00179712	0.0042	0.0009	0.0010	0	0.0005	0.0040	0.0021	0.0096	0.0022445	347	154602	rs121918239	0.0024	0.0024	0.0023	0.0025	0.0078	0.0023	0.0023	0.0073	0.0071	0.0002	0.0006	7.71e-05	5.114e-05	0.0004	0.0023	0.0024	0.0015	0.0078	0.0016	0.0016	0.0017	0.0016	0.0062	0.0015	0.0014	0.0045	0.0039	0.0006	0	0.0009	0	0	9.422e-05	0.0034	0.0026	0.0005	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.002535	0.000000	0.001362	0.005988	0.000000	0.000000	0.003125	0.003817	0.05263	1514.83	53	chr9	137233404	.	G	A	1514.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.91;DP=725;ExcessHet=0.119;FS=2.539;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.902;SOR=0.458	GT:AD:DP:GQ:PL	0/1:26,27:53:99:815,0,644	17	0	2	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	1265	97	26	134	0	294	0.602459	.	.	.	322826	Hypoparathyroidism,_deafness,_renal_disease_syndrome|not_provided	MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	2895.72	4	chr10	8074278	.	G	GA	2895.72	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-0.407;DP=172;ExcessHet=0.0012;FS=0;InbreedingCoeff=0.5952;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=25.4;ReadPosRankSum=-0.21;SOR=0.929	GT:AD:DP:GQ:PL	1/1:0,4:4:12:113,12,0	5	11	3	0
chr10	23193706	23193706	T	C	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon2:c.T787C:p.S263P	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	277	416	362	467	0	1296	0.609023	.	.	.	135501	not_provided|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome|not_specified|Permanent_neonatal_diabetes_mellitus|Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2	MedGen:C3661900|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288|MedGen:CN169374|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.357	.	0.5108	0.624401	0.5470	0.5697	0.7022	0.8903	0.4327	0.4864	0.5430	0.5350	0.523195	80887	154602	rs7918487	0.4938	0.4962	0.4927	0.4948	0.8378	0.4928	0.4924	0.8302	0.8271	0.5601	0.6724	0.5597	0.8378	0.4417	0.6054	0.4672	0.5268	0.5353	0.5240	0.5241	0.5217	0.5264	0.8799	0.5210	0.5197	0.8585	0.8498	0.5578	0.4215	0.5843	0.5542	0.8799	0.4411	0.6327	0.4725	0.5375	0.5558	0.035	0.43708	D	0.009	0.66756	D	0.022	0.18677	B	0.011	0.15521	B	0.000012	0.62929	N	0.068790	0.00248586	0.43951	P	1.18	0.29980	L	-3.56	0.94869	D	-2.27	0.50666	N	0.06	0.03175	-0.9246	0.44915	T	0.000	0.00011	T	9	7.2453116e-07	0.00003	T	.	.	.	0.357	0.67782	.	.	.	.	0.8029689689293238	0.80250	.	.	0.808061718941	0.83195	D	0.245918	0.61529	T	-0.418964	0.01736	T	-0.230769	0.51698	T	0.0349258213578647	0.02795	T	0.630137	0.24490	T	0.42178693	0.62210	0.62976736	0.78405	0.41815445	0.61969	0.6288712	0.78357	-5.729	0.43950	T	0.22715938275925626	0.30707	0.161	0.35643	B	.	.	3.140397	0.42469	21.5	0.98917447264891534	0.48491	0.98167	0.80181	D	AEFDBCI	0.815195	0.73723	D	-0.175553205708038	0.34153	1.946079	-0.064842511773185	0.36855	2.150201	0.999832780372402	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.34	3.02	0.33970	4.083000	0.57365	2.832000	0.35027	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.500000	0.29017	0.0:0.1441:0.0:0.8559	9.307	0.37045	833	0.38804	.	C10orf67|C10orf67|ARMC3|MSRB2|C10orf67|C10orf67|C10orf67|C10orf67	Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	C10orf67	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0.638469	0.611111	0.634511	0.652047	0.450000	0.637931	0.667683	0.609848	0.6053	12490.8	35	chr10	23193706	.	T	C	12490.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.33;DP=673;ExcessHet=10.2499;FS=0.629;InbreedingCoeff=-0.4319;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=19.95;ReadPosRankSum=0.143;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,14:35:99:0|1:23193698_G_T:442,0,492:23193698	1	5	13	0
chr10	43114671	43114671	G	A	exonic	RET	.	nonsynonymous SNV	RET:NM_001355216:exon8:c.G1309A:p.G437S,RET:NM_020630:exon11:c.G2071A:p.G691S,RET:NM_020975:exon11:c.G2071A:p.G691S	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant	5	773	611	133	0	877	0.361948	.	.	.	36275	Multiple_endocrine_neoplasia_type_2B|not_specified|Renal_hypodysplasia/aplasia_1|Multiple_endocrine_neoplasia,_type_2|Multiple_endocrine_neoplasia_type_2A|Hirschsprung_disease,_susceptibility_to,_1|Multiple_endocrine_neoplasia|Hereditary_cancer-predisposing_syndrome|not_provided|Pheochromocytoma	MONDO:MONDO:0008082,MeSH:D018814,MedGen:C0025269,OMIM:162300,Orphanet:247709,Orphanet:653|MedGen:CN169374|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709|MONDO:MONDO:0019003,MedGen:C4048306,Orphanet:653|MONDO:MONDO:0008234,MeSH:D018813,MedGen:C0025268,OMIM:171400,Orphanet:247698,Orphanet:653|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623,Orphanet:388|MONDO:MONDO:0017169,MedGen:C0027662,OMIM:PS131100,Orphanet:276161|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.207	.	0.1570	0.169129	0.2033	0.1026	0.3688	0.1094	0.2214	0.1887	0.2272	0.2500	0.196938	30447	154602	rs1799939	0.1852	0.1852	0.1834	0.1871	0.3384	0.1846	0.1844	0.3339	0.3320	0.0963	0.3384	0.1988	0.0943	0.2118	0.2536	0.1778	0.1804	0.2569	0.1695	0.1698	0.1662	0.1731	0.2485	0.1678	0.1671	0.2419	0.2392	0.1010	0.1579	0.2485	0.2015	0.1055	0.2299	0.2397	0.1818	0.1795	0.2432	0.178	0.22138	T	0.123	0.35582	T	0.062	0.25884	B	0.007	0.17743	B	0.003826	0.34438	N	0.349618	1	0.08975	P	0.55	0.14455	N	-1.05	0.78082	T	-0.95	0.25332	N	0.045	0.02088	-1.0975	0.04407	T	0.000	0.00039	T	9	0.005253911	0.00115	T	.	.	.	0.207	0.49555	.	.	.	.	0.5028086851049985	0.50202	0.204518158434	0.22873	0.348253011703	0.17664	T	0.423	0.77390	T	-0.557986	0.00261	T	-0.430465	0.29884	T	0.0152077337298967	0.00333	T	0.842016	0.51794	T	0.039440107	0.05446	0.038123365	0.03613	0.03964718	0.05514	0.041703895	0.04799	-0.799	0.00802	T	0.11972520613525756	0.11186	0.073	0.04477	B	.;.	.;.	1.310757	0.17138	12.98	0.85950769653778381	0.16217	0.38801	0.26070	N	AEFDGBCI	0.075412	0.15142	N	-0.84095240757271	0.12273	0.5972382	-0.786731628796562	0.14821	0.77639	0.604377329902492	0.21753	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.75	-1.08	0.09428	4.413000	0.59549	1.794000	0.28824	0.676000	0.76740	1.000000	0.71638	0.910000	0.28117	0.003000	0.05239	0.7374:0.0:0.2626:0.0	9.258	0.36757	856	0.34373	.;.	RASGEF1A|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A|RASGEF1A|RP11-351D16.3|RASGEF1A|RASGEF1A|RASGEF1A|RP11-351D16.3|CSGALNACT2|RASGEF1A	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Thyroid	CSGALNACT2|CSGALNACT2	Artery_Tibial|Nerve_Tibial	rs1799939	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.246224	0.232323	0.247956	0.263158	0.300000	0.250000	0.234756	0.272727	0.2632	14876.2	150	chr10	43114671	.	G	A	14876.2	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.55;DP=1538;ExcessHet=6.9875;FS=0;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.248;SOR=0.681	GT:AD:DP:GQ:PL	0/1:67,83:150:99:2247,0,1671	9	0	10	0
chr10	52771482	52771482	G	A	exonic	MBL2	.	nonsynonymous SNV	MBL2:NM_000242:exon1:c.C154T:p.R52C,MBL2:NM_001378373:exon2:c.C154T:p.R52C,MBL2:NM_001378374:exon2:c.C154T:p.R52C	.	425	935	151	11	0	173	0.0846794	.	.	YES	29391	not_provided|Cystic_fibrosis|Mannose-binding_lectin_deficiency	MedGen:C3661900|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MONDO:MONDO:0013714,MedGen:C3280586,OMIM:614372	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.527	.	0.0498	0.0271565	0.0569	0.0110	0.0264	0.0002	0.0584	0.0761	0.0551	0.0594	0.0560536	8666	154602	rs5030737	0.0659	0.0659	0.0653	0.0665	0.0735	0.0656	0.0654	0.0712	0.0711	0.0099	0.0272	0.1038	0.0002	0.0576	0.0735	0.0717	0.0612	0.0602	0.0494	0.0494	0.0501	0.0486	0.0722	0.0484	0.0481	0.0705	0.0699	0.0118	0.1567	0.0387	0.0991	0.0004	0.0609	0.0272	0.0722	0.0498	0.0567	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.977	0.73820	D	0.032677	0.24997	N	0.247365	0.993411	0.41932	A	3.445	0.92174	M	-3.2	0.93231	D	-4.94	0.81835	D	0.091	0.06990	0.062	0.83463	D	0.432	0.77374	T	9	0.0030004382	0.00049	T	.	.	.	0.527	0.80007	.	.	.	.	0.42006838530462065	0.41922	0.502214769166	0.48587	0.327009618282	0.14483	T	0.618358	0.88002	D	-0.221839	0.17743	T	-0.0280537	0.68498	D	0.0674288808456765	0.08286	T	0.974003	0.90706	D	0.5926832	0.72296	0.43889147	0.67259	0.5926832	0.72297	0.45634174	0.68400	-9.391	0.70179	D	0.7007590763589189	0.77970	0.236	0.46915	B	.	.	4.056622	0.60165	24.2	0.99917815049540892	0.98518	0.09150	0.14963	N	AEFBCI	0.132216	0.25144	N	0.380477454125213	0.60365	4.224615	0.19217995272698	0.49416	3.145189	0.999376067672215	0.39355	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	3.07	0.34476	0.972000	0.29007	2.800000	0.34847	0.676000	0.76740	0.002000	0.15269	0.165000	0.23294	0.959000	0.51448	0.0:0.0:0.7818:0.2182	9.112	0.35898	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.053462	0.005208	0.053134	0.047059	0.055556	0.068966	0.087500	0.062016	0.05263	3432.83	145	chr10	52771482	.	G	A	3432.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.64;DP=881;ExcessHet=0.119;FS=4.405;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=0.785;SOR=0.478	GT:AD:DP:GQ:PL	0/1:68,77:145:99:2011,0,1516	17	0	2	0
chr10	70600631	70600631	G	A	exonic	PRF1	.	nonsynonymous SNV	PRF1:NM_001083116:exon2:c.C272T:p.A91V,PRF1:NM_005041:exon2:c.C272T:p.A91V	Aplastic anemia;Hemophagocytic lymphohistiocytosis, familial, 2, Autosomal recessive;Lymphoma, non-Hodgkin	1	1453	66	2	0	70	0.0235215	.	.	.	28757	PRF1-related_disorder|Autoinflammatory_syndrome|not_specified|Familial_hemophagocytic_lymphohistiocytosis_2|Hemophagocytic_lymphohistiocytosis,_familial,_2,_susceptibility_to|not_provided	.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0011337,MedGen:C1863727,OMIM:603553,Orphanet:540|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.485	.	0.0338	0.0131789	0.0311	0.0059	0.0218	0.0001	0.0304	0.0475	0.0280	0.0038	0.0308405	4768	154602	rs35947132	0.0361	0.0361	0.0365	0.0357	0.0422	0.0358	0.0357	0.0418	0.0417	0.0053	0.0248	0.0261	0.0002	0.0305	0.0237	0.0422	0.0301	0.0038	0.0287	0.0287	0.0301	0.0272	0.0448	0.0279	0.0277	0.0434	0.0429	0.0072	0.1776	0.0276	0.0288	0.0002	0.0221	0.0306	0.0448	0.0350	0.0031	0.004	0.65419	D	0.007	0.69154	D	1.0	0.90584	D	0.937	0.67262	D	0.000186	0.48115	D	0.182932	0.999004	0.45857	D	3.1	0.87590	M	-3.02	0.92258	D	-3.58	0.69118	D	0.227	0.28616	0.116	0.84469	D	0.528	0.82458	D	10	0.0071359873	0.00162	T	.	.	.	0.485	0.77399	.	.	.	.	0.7675412476221211	0.76703	0.429213647439	0.43218	0.444428026676	0.31182	T	0.776691	0.94068	D	-0.273097	0.11414	T	-0.121804	0.61654	T	0.0190385066172218	0.00613	T	0.662834	0.27173	T	0.3169565	0.54381	0.27410573	0.53336	0.28359354	0.51391	0.27789047	0.53744	-5.801	0.44583	T	0.7735070147521246	0.85426	0.253	0.52582	B	.;.;.	.;.;.	4.137445	0.61958	24.4	0.99893776928203382	0.96742	0.98229	0.80739	D	AEFDBI	0.635808	0.61518	D	0.430311824172762	0.63097	4.536921	0.347167296914626	0.58337	4.003673	0.99999999640275	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.7	4.8	0.61157	6.742000	0.74644	8.571000	0.77606	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.128000	0.19490	0.0809:0.0:0.9191:0.0	12.453	0.55024	489	0.76795	.;Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain	ADAMTS14|ADAMTS14|ADAMTS14	Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	.	.	.	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	0.020202	0.025253	0.020380	0.002924	0.050000	0.017241	0.030488	0.030303	0.05263	3525.83	118	chr10	70600631	.	G	A	3525.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.576;DP=832;ExcessHet=0.119;FS=3.91;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.857;SOR=0.967	GT:AD:DP:GQ:PL	0/1:57,61:118:99:1768,0,1572	17	0	2	0
chr10	84196512	84196512	C	A	exonic	CDHR1	.	nonsynonymous SNV	CDHR1:NM_001171971:exon3:c.C159A:p.H53Q,CDHR1:NM_033100:exon3:c.C159A:p.H53Q	Cone-rod dystrophy 15, Autosomal recessive;Retinitis pigmentosa 65, Autosomal recessive	1	1434	83	4	0	91	0.0307536	.	.	.	311355	Cone-Rod_Dystrophy,_Recessive|not_provided	MedGen:CN239309|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.144	.	0.0277	0.019369	0.0271	0.0063	0.0288	0	0.0121	0.0366	0.0286	0.0205	0.0283437	4382	154602	rs12781048	0.0372	0.0372	0.0377	0.0367	0.0423	0.0369	0.0368	0.0416	0.0415	0.0067	0.0347	0.0321	5.038e-05	0.0148	0.0423	0.0419	0.0373	0.0214	0.0270	0.0270	0.0284	0.0255	0.0472	0.0263	0.0260	0.0444	0.0433	0.0079	0.0362	0.0472	0.0302	0.0006	0.0107	0.0374	0.0383	0.0388	0.0213	0.308	0.14111	T	0.403	0.17115	T	0.641	0.40421	P	0.268	0.39801	B	0.000015	0.62929	D	0.154450	0.981343	0.25046	N	0.205	0.09354	N	0.74	0.50459	T	-0.92	0.24676	N	0.055	0.05037	-0.9024	0.47739	T	0.011	0.04088	T	10	0.0019578338	0.00027	T	.	.	.	0.144	0.38394	0.331	0.31681	.	.	0.29565776148033995	0.29478	.	.	0.566160917282	0.48135	T	0.048686	0.28090	T	-0.659529	0.00063	T	-0.692281	0.06258	T	0.0209631022129474	0.00797	T	0.824018	0.48536	T	0.07863945	0.17920	0.123191066	0.29709	0.10534911	0.24908	0.123191066	0.29708	-8.307	0.63142	D	0.09224268079412712	0.05940	0.197	0.44643	B	.;.	.;.	-2.152051	0.00072	0.001	0.91846314731152934	0.21158	0.05838	0.11780	N	AEFDBHCI	0.063516	0.12278	N	-1.7516679423019	0.00674	0.02909864	-1.85243747483535	0.00605	0.02689948	0.999999879189793	0.74766	0.625279	0.40028	0	0.541168	0.11318	0	0.687403	0.62504	0	0.530356	0.10902	0	.	.	5.57	-11.1	0.00116	-3.401000	0.00537	-8.340000	0.00986	-1.579000	0.00922	0.000000	0.06391	0.000000	0.08366	0.718000	0.34707	0.0:0.7368:0.0:0.2632	23.509	0.99984	940	0.13648	Cadherin-like;.	CDHR1|CDHR1	Esophagus_Mucosa|Spleen	.	.	rs12781048	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	0.042296	0.025253	0.048913	0.058480	0.000000	0.094828	0.024390	0.026515	0.02632	3933.33	281	chr10	84196512	.	C	A	3933.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.559;DP=910;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-1.29;SOR=0.699	GT:AD:DP:GQ:PL	0/1:126,155:281:99:3947,0,3097	18	0	1	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	.	323868	Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant	Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|.|MedGen:CN239310	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	20166.3	21	chr10	90918983	.	AATAAATAAATATATATAT	A	20166.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1;DP=684;ExcessHet=0.0125;FS=8.123;InbreedingCoeff=0.4682;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=33.83;ReadPosRankSum=1.04;SOR=0.229	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,19:21:25:0|1:90918983_AATAAATAAATATATATAT_A:786,0,25:90918983	7	7	5	0
chr10	94031559	94031559	G	A	exonic	PLCE1	.	synonymous SNV	PLCE1:NM_001288989:exon2:c.G513A:p.V171V,PLCE1:NM_016341:exon2:c.G513A:p.V171V	Nephrotic syndrome, type 3, Autosomal recessive	1	1495	26	0	0	26	0.00862069	.	.	.	253926	Nephrotic_syndrome,_type_3|Focal_segmental_glomerulosclerosis|not_provided|PLCE1-related_disorder	MONDO:MONDO:0012546,MedGen:C1853124,OMIM:610725,Orphanet:656|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.000998403	0.0012	0.0001	0.0010	0	0.0003	0.0017	0.0033	0.0012	0.0011837	183	154602	rs61749239	0.0011	0.0011	0.0010	0.0012	0.0161	0.0011	0.0010	0.0135	0.0125	0.0004	0.0011	0.0102	0	0	0.0161	0.0008	0.0025	0.0014	0.0011	0.0011	0.0012	0.0011	0.0015	0.0010	0.0010	0.0010	0.0009	0.0001	0	0.0015	0.0098	0	9.42e-05	0.0306	0.0012	0.0052	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.013092	0.005051	0.016304	0.017544	0.000000	0.017241	0.009146	0.007576	0.02632	2116.33	214	chr10	94031559	.	G	A	2116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.006;DP=866;ExcessHet=0;FS=1.689;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.512;SOR=0.761	GT:AD:DP:GQ:PL	0/1:128,86:214:99:2130,0,3478	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9211	20063.0	23	chr10	123053169	.	AT	A	20063.0	.	AC=35;AF=0.921;AN=38;BaseQRankSum=0.756;DP=975;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=35;MLEAF=0.921;MQ=60;MQRankSum=0;QD=26.06;ReadPosRankSum=-0.156;SOR=0.653	GT:AD:DP:GQ:PL	1/0:0,19:23:44:613,112,44	0	16	3	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	21	72	439	990	0	2419	0.943816	.	.	.	326978	Maturity-onset_diabetes_of_the_young_type_10|Type_1_diabetes_mellitus_2|Autosomal_recessive_DOPA_responsive_dystonia|Diabetes_mellitus,_permanent_neonatal_4|Transient_Neonatal_Diabetes,_Dominant/Recessive|Diabetes_mellitus_type_1|not_provided|Hyperproinsulinemia|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MedGen:CN239353|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|MedGen:C3661900|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.7895	74441.6	127	chr11	2159830	.	T	G	74441.6	.	AC=30;AF=0.789;AN=38;BaseQRankSum=1.45;DP=2966;ExcessHet=0.0419;FS=0;InbreedingCoeff=0.3667;MLEAC=30;MLEAF=0.789;MQ=60;MQRankSum=0;QD=26.43;ReadPosRankSum=0.916;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,127:127:99:.:.:3956,381,0:.	2	13	4	0
chr11	6616509	6616509	T	-	intronic	TPP1	.	.	.	Ceroid lipofuscinosis, neuronal, 2, Autosomal recessive;Spinocerebellar ataxia, autosomal recessive 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	321432	Neuronal_Ceroid-Lipofuscinosis,_Recessive|Neuronal_ceroid_lipofuscinosis_2|not_specified|not_provided	MedGen:CN239323|MONDO:MONDO:0008769,MedGen:C1876161,OMIM:204500,Orphanet:168491,Orphanet:228349,Orphanet:79264|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1142	0.0799	0.0493	0.0916	0.0410	0.1069	0.1220	0.1456	0.0005379	14	26028	rs35039601	0.3989	0.3867	0.4023	0.3954	0.4118	0.3980	0.3976	0.4108	0.4104	0.3181	0.3268	0.3599	0.3573	0.3454	0.3614	0.4118	0.3926	0.3499	0.5430	0.5451	0.5416	0.5444	0.6143	0.5396	0.5382	0.5937	0.5854	0.4376	0.6847	0.5590	0.5754	0.5442	0.5465	0.5397	0.5915	0.5301	0.6143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	13563.8	26	chr11	6616508	.	AT	A	13563.8	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.292;DP=902;ExcessHet=0;FS=3.629;InbreedingCoeff=nan;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=23.71;ReadPosRankSum=0.273;SOR=0.425	GT:AD:DP:GQ:PL	0/1:1,11:26:2:472,191,144	11	0	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	Diabetes_mellitus,_transient_neonatal,_3|Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.735823	.	.	.	.	.	.	.	.	0.02213	576	26028	rs5213	0.6509	0.6490	0.6528	0.6489	0.9329	0.6497	0.6492	0.9237	0.9199	0.9329	0.6277	0.6666	0.6333	0.5278	0.7238	0.6500	0.6663	0.6293	0.7178	0.7178	0.7241	0.7113	0.9199	0.7143	0.7128	0.9122	0.9090	0.9199	0.5746	0.6767	0.6737	0.6457	0.5344	0.7041	0.6490	0.6958	0.6272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.6316	24565.1	85	chr11	17386857	.	C	T	24565.1	.	AC=24;AF=0.632;AN=38;BaseQRankSum=2.46;DP=1180;ExcessHet=0.0884;FS=0;InbreedingCoeff=0.3214;MLEAC=24;MLEAF=0.632;MQ=60;MQRankSum=0;QD=24.49;ReadPosRankSum=-0.201;SOR=0.711	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1248,0,994	4	9	6	0
chr11	17393023	17393023	C	T	exonic	ABCC8	.	nonsynonymous SNV	ABCC8:NM_000352:exon39:c.G4714A:p.V1572I,ABCC8:NM_001287174:exon39:c.G4717A:p.V1573I,ABCC8:NM_001351295:exon39:c.G4780A:p.V1594I,ABCC8:NM_001351296:exon39:c.G4714A:p.V1572I,ABCC8:NM_001351297:exon39:c.G4711A:p.V1571I	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	0	1264	229	29	0	287	0.101954	.	.	.	167553	not_specified|Transient_Neonatal_Diabetes,_Dominant|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hereditary_hyperinsulinism|Neonatal_hypoglycemia|Permanent_neonatal_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Hyperinsulinism,_Dominant/Recessive	MedGen:CN169374|MedGen:CN239283|MedGen:C3661900|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|.|Human_Phenotype_Ontology:HP:0001998,MedGen:C0158986|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:CN239464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.172	.	0.0554	0.0311502	0.0562	0.0284	0.0283	0.0005	0.0384	0.0709	0.0721	0.0693	0.0551287	8523	154602	rs8192690	0.0582	0.0582	0.0571	0.0594	0.1014	0.0579	0.0578	0.0946	0.0919	0.0305	0.0323	0.1453	0.0047	0.0393	0.1014	0.0597	0.0621	0.0682	0.0505	0.0505	0.0521	0.0488	0.0637	0.0495	0.0492	0.0621	0.0614	0.0298	0.0462	0.0475	0.1510	0.0017	0.0370	0.0918	0.0637	0.0614	0.0559	0.461	0.08839	T	0.932	0.02759	T	0.005	0.12996	B	0.002	0.06944	B	0.001201	0.39899	N	0.211847	0.999403	0.46935	D	-0.105	0.04674	N	-2.66	0.90272	D	0.09	0.05917	N	0.031	0.00770	-0.8860	0.49273	T	0.060	0.24981	T	10	0.0015296042	0.00017	T	.	.	.	0.172	0.43662	.	.	.	.	0.686121190666775	0.68552	0.573721100839	0.53415	0.297033429146	0.09959	T	0.325293	0.69602	T	-0.524791	0.00412	T	-0.476345	0.24835	T	0.000768647569014637	0.00007	T	0.853715	0.53946	D	0.021481223	0.00753	0.025963206	0.00662	0.029005436	0.02326	0.025963206	0.00662	-3.672	0.18905	T	0.12925399021544368	0.13478	0.068	0.04316	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.999690	0.13782	10.33	0.86328323834373999	0.16463	0.25673	0.22769	N	AEFDBI	0.219392	0.34428	N	-0.96217036324778	0.09421	0.4458007	-0.827751153180889	0.13824	0.7191935	0.998921802827047	0.37985	0.713056	0.82018	0	0.547309	0.14657	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	5.2	1.28	0.20656	0.486000	0.22048	-3.237000	0.02946	-0.182000	0.10109	0.037000	0.20830	0.000000	0.08366	0.805000	0.37950	0.0:0.6252:0.0:0.3748	8.346	0.31437	594	0.68584	ABC transporter-like;.;ABC transporter-like;.;ABC transporter-like;ABC transporter-like;ABC transporter-like;ABC transporter-like	RP1-239B22.5|NCR3LG1|RP1-239B22.5|RP1-239B22.5|NCR3LG1|RP1-239B22.5|RP1-239B22.5|RP1-239B22.5|NCR3LG1|RP1-239B22.5|KCNJ11|NCR3LG1|NCR3LG1|RP1-239B22.5	Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Esophagus_Mucosa|Nerve_Tibial|Testis|Testis	.	.	rs8192690	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.088117	0.090909	0.103261	0.078947	0.000000	0.112069	0.100610	0.071970	0.1842	14515.4	214	chr11	17393023	.	C	T	14515.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.046;DP=1764;ExcessHet=2.9153;FS=1.108;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.134;SOR=0.584	GT:AD:DP:GQ:PL	0/1:118,96:214:99:2065,0,2891	12	0	7	0
chr11	17395957	17395957	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	445	728	343	0	1414	0.613715	.	.	.	167548	not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4704	0.421526	0.4583	0.7635	0.5950	0.1792	0.4136	0.4287	0.4590	0.3842	0.0121792	317	26028	rs739689	0.3432	0.3401	0.3432	0.3431	0.7497	0.3424	0.3420	0.7418	0.7385	0.7497	0.4335	0.4145	0.1096	0.2056	0.4979	0.3368	0.3619	0.3678	0.4400	0.4401	0.4495	0.4300	0.7292	0.4372	0.4361	0.7223	0.7195	0.7292	0.2325	0.4480	0.4173	0.0892	0.1976	0.4286	0.3364	0.4347	0.3522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	19360.1	51	chr11	17395957	.	A	G	19360.1	.	AC=22;AF=0.579;AN=38;BaseQRankSum=2.47;DP=970;ExcessHet=0.0637;FS=3.727;InbreedingCoeff=0.3523;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=25.47;ReadPosRankSum=0.222;SOR=0.419	GT:AD:DP:GQ:PL	0/1:32,19:51:99:610,0,1011	5	8	6	0
chr11	17408375	17408375	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	314	660	541	0	1742	0.735021	.	.	.	167542	not_specified|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6088	0.614617	0.6125	0.6167	0.7059	0.7429	0.5248	0.6255	0.6038	0.46	0.601991	93069	154602	rs2106865	0.6116	0.6114	0.6155	0.6077	0.7147	0.6106	0.6101	0.7077	0.7048	0.6184	0.6958	0.6590	0.7147	0.5287	0.6211	0.6176	0.6245	0.4682	0.6174	0.6175	0.6250	0.6094	0.7228	0.6140	0.6127	0.7034	0.6955	0.6148	0.7252	0.6494	0.6653	0.7228	0.5244	0.6918	0.6235	0.6340	0.4757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	13485.2	79	chr11	17408375	.	T	C	13485.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.477;DP=999;ExcessHet=1.9883;FS=0.562;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=-1.189;SOR=0.772	GT:AD:DP:GQ:PL	0/1:44,35:79:99:908,0,1149	5	4	10	0
chr11	17414293	17414293	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	703	213	106	500	0	1106	0.721932	.	.	.	1166871	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.904153	.	.	.	.	.	.	.	.	0.865875	22537	26028	rs4148632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8922	0.8921	0.8924	0.8919	0.9655	0.8882	0.8865	0.9576	0.9543	0.9655	0.9134	0.8980	0.8767	0.9122	0.8735	0.8163	0.8525	0.8925	0.8324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	4522.1	9	chr11	17414293	.	A	G	4522.1	.	AC=27;AF=0.75;AN=36;BaseQRankSum=0.253;DP=216;ExcessHet=0.0524;FS=3.178;InbreedingCoeff=0.3136;MLEAC=28;MLEAF=0.778;MQ=60;MQRankSum=0;QD=25.55;ReadPosRankSum=0.126;SOR=1.559	GT:AD:DP:GQ:PL	1/1:0,9:9:27:305,27,0	2	11	5	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	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	0.146059	22581	154602	rs4148631	0.7539	0.7531	0.7539	0.7539	0.8624	0.7526	0.7521	0.8546	0.8514	0.5784	0.8469	0.7895	0.8624	0.7273	0.7046	0.7512	0.7604	0.7470	0.7155	0.7155	0.7141	0.7170	0.8819	0.7120	0.7105	0.8605	0.8518	0.5817	0.8136	0.7993	0.7954	0.8819	0.7282	0.7415	0.7540	0.7427	0.7632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	11266.2	36	chr11	17414389	.	G	A	11266.2	.	AC=22;AF=0.579;AN=38;BaseQRankSum=-0.287;DP=593;ExcessHet=0.5308;FS=0;InbreedingCoeff=0.1364;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=23.92;ReadPosRankSum=0.284;SOR=0.65	GT:AD:DP:GQ:PL	0/1:22,14:36:99:347,0,698	4	7	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	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.746605	.	.	.	.	.	.	.	.	0.146842	22702	154602	rs4148630	0.7523	0.7519	0.7521	0.7525	0.8627	0.7511	0.7506	0.8550	0.8518	0.5795	0.8463	0.7888	0.8627	0.7268	0.7049	0.7499	0.7602	0.7471	0.7153	0.7153	0.7139	0.7168	0.8826	0.7118	0.7103	0.8612	0.8524	0.5812	0.8136	0.7993	0.7953	0.8826	0.7283	0.7415	0.7538	0.7427	0.7630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	15894.2	57	chr11	17414419	.	G	A	15894.2	.	AC=22;AF=0.579;AN=38;BaseQRankSum=-1.201;DP=879;ExcessHet=0.5308;FS=0;InbreedingCoeff=0.1364;MLEAC=22;MLEAF=0.579;MQ=60;MQRankSum=0;QD=22.39;ReadPosRankSum=-0.193;SOR=0.743	GT:AD:DP:GQ:PL	0/1:35,22:57:99:526,0,979	4	7	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	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8933	0.903754	0.8760	0.9698	0.9072	0.9098	0.8748	0.8620	0.8614	0.8369	0.0257799	671	26028	rs4148626	0.8556	0.8554	0.8570	0.8542	0.9669	0.8544	0.8538	0.9580	0.9544	0.9669	0.9065	0.8766	0.8902	0.8652	0.8093	0.8498	0.8683	0.8281	0.8916	0.8915	0.8919	0.8912	0.9632	0.8876	0.8859	0.9553	0.9520	0.9632	0.9134	0.8977	0.8767	0.9121	0.8731	0.8163	0.8526	0.8931	0.8328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7368	28817.0	97	chr11	17415389	.	A	G	28817.0	.	AC=28;AF=0.737;AN=38;BaseQRankSum=1.13;DP=1219;ExcessHet=0.0151;FS=0;InbreedingCoeff=0.4571;MLEAC=28;MLEAF=0.737;MQ=60;MQRankSum=0;QD=26.41;ReadPosRankSum=-0.044;SOR=0.77	GT:AD:DP:GQ:PL	1/1:0,97:97:99:3058,291,0	3	12	4	0
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H,ABCC8:NM_001287174:exon12:c.C1686T:p.H562H,ABCC8:NM_001351295:exon12:c.C1686T:p.H562H,ABCC8:NM_001351296:exon12:c.C1683T:p.H561H,ABCC8:NM_001351297:exon12:c.C1683T:p.H561H	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	8	536	705	273	0	1251	0.538528	.	.	.	167532	Permanent_neonatal_diabetes_mellitus|not_provided|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Cerebral_edema|not_specified|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4587	0.429912	0.4311	0.4812	0.3021	0.2844	0.4180	0.4470	0.4546	0.5041	0.426075	65872	154602	rs1799857	0.4459	0.4459	0.4447	0.4471	0.4959	0.4450	0.4446	0.4920	0.4904	0.4747	0.3195	0.4445	0.3087	0.4107	0.4108	0.4535	0.4380	0.4959	0.4417	0.4417	0.4437	0.4395	0.4867	0.4389	0.4377	0.4745	0.4722	0.4801	0.3516	0.3803	0.4438	0.3002	0.4127	0.3537	0.4459	0.4296	0.4867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.414560	0.333333	0.405995	0.438596	0.500000	0.500000	0.393293	0.431298	0.4211	32289.9	190	chr11	17430945	.	G	A	32289.9	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.597;DP=1785;ExcessHet=0.0637;FS=0;InbreedingCoeff=0.3523;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=22.12;ReadPosRankSum=-0.168;SOR=0.777	GT:AD:DP:GQ:PL	1/1:0,190:190:99:5831,570,0	8	5	6	0
chr11	17531234	17531234	G	A	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_001297764:exon4:c.C307T:p.R103C,USH1C:NM_005709:exon4:c.C307T:p.R103C,USH1C:NM_153676:exon4:c.C307T:p.R103C	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	57177	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.831	0.410997395953	.	0.00119808	0.0010	0	0	0	0	0	0	0.0073	0.0008603	133	154602	rs397517880	0.0006	0.0006	0.0004	0.0008	0.0078	0.0005	0.0005	0.0074	0.0072	5.974e-05	0	0	0	0	0.0002	0.0001	0.0005	0.0078	0.0002	0.0002	2.57e-05	0.0004	0.0064	0.0002	0.0001	0.0047	0.0041	0	0	0	0	0	0	0	1.47e-05	0	0.0064	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	0.052082	1	0.81001	D	1.2	0.30300	L	1.64	0.27822	T	-7.38	0.95634	D	0.96	0.98368	-0.6886	0.60973	T	0.198	0.55329	T	10	0.022108346	0.00544	T	0.410997	0.93598	D	0.831	0.94653	0.781	0.90541	0.615802107288	0.61270	0.7661962857702276	0.76568	0.446580278172	0.44524	0.851669728756	0.89866	D	0.273201	0.64564	T	-0.120879	0.32980	T	0.0594204	0.74206	D	0.173738843397744	0.18831	T	0.970403	0.96942	D	0.91356033	0.92629	0.6833929	0.81388	0.8436937	0.86875	0.7175608	0.83328	-13.486	0.93156	D	.	.	0.770	0.77702	P	.;.;.;.;.	.;.;.;.;.	5.638769	0.92727	33	0.99931457419198078	0.99387	0.91951	0.54617	D	AEFDBI	0.889622	0.82387	D	0.572590149419844	0.71468	5.655404	0.489922481798543	0.67320	5.068336	0.999999564476807	0.74766	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.39	4.45	0.53365	4.765000	0.61968	11.845000	0.97913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:0.0:0.6951:0.3049	12.412	0.54810	712	0.56465	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3037.33	263	chr11	17531234	.	G	A	3037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.815;DP=933;ExcessHet=0;FS=4.107;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.125;SOR=0.714	GT:AD:DP:GQ:PL	0/1:138,125:263:99:3051,0,3499	18	0	1	0
chr11	77208439	77208439	G	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon43:c.G5866A:p.V1956I,MYO7A:NM_001127180:exon43:c.G5752A:p.V1918I,MYO7A:NM_001369365:exon44:c.G5719A:p.V1907I	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	52475	Autosomal_dominant_nonsyndromic_hearing_loss_11|Autosomal_recessive_nonsyndromic_hearing_loss_2|Usher_syndrome_type_1|Usher_syndrome_type_1B|not_specified|not_provided	MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0700087,MedGen:C2931206|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.240	0.0446454110709	0.0024	0.00159744	0.0045	0.0010	0.0019	0	0.0041	0.0065	0.0012	0.0028	0.0042173	652	154602	rs142293185	0.0042	0.0042	0.0043	0.0042	0.0045	0.0041	0.0041	0.0044	0.0044	0.0013	0.0018	0.0150	0.0001	0.0034	0.0003	0.0045	0.0040	0.0020	0.0037	0.0037	0.0039	0.0035	0.0050	0.0034	0.0033	0.0046	0.0044	0.0013	0	0.0040	0.0167	0	0.0028	0	0.0050	0.0043	0.0025	0.239	0.21066	T	0.419	0.14158	T	0.935	0.52277	P	0.459	0.46380	P	0.023853	0.26367	N	0.370118	0.999996	0.58761	D	2	0.54354	M	-0.87	0.74583	T	-0.82	0.22508	N	0.366	0.81162	-0.6614	0.62215	T	0.240	0.60833	T	10	0.009595692	0.00216	T	0.044645	0.61592	D	0.240	0.54500	.	.	0.64749411766	0.64457	0.21953071178924213	0.21869	0.398382739974	0.40898	0.642459630966	0.58913	T	0.249037	0.61893	T	-0.349474	0.04760	T	-0.269644	0.47855	T	0.00817409145721839	0.00098	T	0.938006	0.76748	D	0.123182006	0.28929	0.09762946	0.23245	0.14032014	0.32378	0.08495531	0.19580	-12.388	0.86690	D	0.15508858871757167	0.18566	0.144	0.37764	B	.;.;.;.	.;.;.;.	3.574108	0.50354	22.9	0.98603943124682181	0.43546	0.95486	0.64913	D	AEFDBI	0.737828	0.68290	D	0.0880045460591601	0.45905	2.839245	0.067144311975351	0.42909	2.603728	0.999999977467093	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.29	3.36	0.37579	3.887000	0.55910	6.712000	0.56404	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.383000	0.26402	0.0826:0.0:0.9174:0.0	12.556	0.55602	679	0.60090	FERM domain|Band 4.1 domain;.;.;FERM domain|Band 4.1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1848.33	139	chr11	77208439	.	G	A	1848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=1548;ExcessHet=0;FS=2.183;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.065;SOR=0.911	GT:AD:DP:GQ:PL	0/1:69,70:139:99:1862,0,2568	18	0	1	0
chr11	89178528	89178528	C	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon1:c.C575A:p.S192Y	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	0	682	633	207	0	1047	0.43426	.	.	YES	18817	Oculocutaneous_albinism|not_provided|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1A|Oculocutaneous_albinism_type_1B|not_specified|Albinism_or_congenital_nystagmus	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|MedGen:C3661900|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	0.2748	0.123403	0.2518	0.0620	0.1918	0.0008	0.1818	0.3663	0.2907	0.1085	0.261019	40354	154602	rs1042602	0.3220	0.3220	0.3252	0.3188	0.3670	0.3213	0.3209	0.3661	0.3657	0.0507	0.2157	0.4485	0.0009	0.1815	0.3226	0.3670	0.3000	0.1142	0.2419	0.2419	0.2523	0.2311	0.3651	0.2398	0.2390	0.3613	0.3597	0.0668	0.3425	0.2714	0.4547	0.0023	0.1828	0.4048	0.3651	0.3011	0.0986	0.031	0.45039	D	0.003	0.76473	D	0.997	0.70673	D	0.974	0.73157	D	0.000008	0.62929	D	0.065875	0.999508	0.21084	P	1.845	0.48678	L	-5.1	0.98700	D	-2.79	0.59059	D	0.382	0.42345	-1.7843	0.00000	T	0.000	0.00039	T	8	0.0053822994	0.00118	T	.	.	.	0.355	0.67600	.	.	.	.	0.6892773878264551	0.68867	0.0688238525608	0.07705	0.439628481865	0.30526	T	0.88496	0.97618	D	-0.260349	0.12860	T	-0.00292912	0.70146	D	0.0152115171034676	0.00334	T	0.744526	0.36463	T	0.16305736	0.36423	0.21538205	0.46125	0.19196893	0.40846	0.22641657	0.47618	-9.607	0.71523	D	0.3624652220777897	0.45877	0.135	0.29228	B	.	.	4.082595	0.60747	24.3	0.99333304920791965	0.59856	0.86225	0.45465	D	AEFBI	0.785702	0.71601	D	0.494697286576891	0.66780	4.99452	0.417875167062087	0.62678	4.48737	0.993650488775012	0.33302	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	4.505000	0.60141	5.876000	0.50589	0.599000	0.40250	0.420000	0.26330	1.000000	0.68203	0.864000	0.41028	0.1393:0.8607:0.0:0.0	15.385	0.74410	864	0.32732	Tyrosinase copper-binding domain	CBX3P7|CTSC	Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs1042602	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.325780	0.454545	0.342391	0.146199	0.200000	0.310345	0.426829	0.234848	0.3158	42743.9	296	chr11	89178528	.	C	A	42743.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.421;DP=3285;ExcessHet=4.0818;FS=0;InbreedingCoeff=-0.2179;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.108;SOR=0.669	GT:AD:DP:GQ:PL	0/1:161,135:296:99:3472,0,4228	8	1	10	0
chr11	89284793	89284793	G	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon4:c.G1205A:p.R402Q	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	9	1058	383	72	0	527	0.199395	.	.	YES	18818	Oculocutaneous_albinism_type_1A|Malignant_tumor_of_breast|Oculocutaneous_albinism_type_1|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Melanoma,_cutaneous_malignant,_susceptibility_to,_8|Skin/hair/eye_pigmentation_3,_blue/green_eyes|Oculocutaneous_albinism_type_1B|Temperature-sensitive_oculocutaneous_albinism_type_1|Autosomal_recessive_ocular_albinism|Elevated_circulating_hepatic_transaminase_concentration|Albinism|Slow_decrease_in_visual_acuity|Abnormality_of_metabolism/homeostasis|Foveal_hypoplasia|Choroidal_neovascularization|not_provided|Albinism_or_congenital_nystagmus|not_specified	MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0018135,MedGen:C0268494,Orphanet:352731|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0013759,MedGen:C3152204,OMIM:614456,Orphanet:293822|MedGen:C3149136|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MONDO:MONDO:0018137,MedGen:C1847132,Orphanet:352737|MONDO:MONDO:0040653,MedGen:C0268503|Human_Phenotype_Ontology:HP:0001411,Human_Phenotype_Ontology:HP:0002910,Human_Phenotype_Ontology:HP:0003143,Human_Phenotype_Ontology:HP:0003156,Human_Phenotype_Ontology:HP:0003293,Human_Phenotype_Ontology:HP:0006567,Human_Phenotype_Ontology:HP:0006578,Human_Phenotype_Ontology:HP:0008267,Human_Phenotype_Ontology:HP:0008342,MedGen:C0235996|Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916|Human_Phenotype_Ontology:HP:0007652,Human_Phenotype_Ontology:HP:0007924,MedGen:C1853141|Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768|Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520|Human_Phenotype_Ontology:HP:0011506,MONDO:MONDO:0810000,MedGen:C0600518|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.695	.	0.2032	0.08127	0.1770	0.0463	0.0916	0.0001	0.1643	0.2648	0.1659	0.0608	0.179804	27798	154602	rs1126809	0.2537	0.2537	0.2597	0.2476	0.2948	0.2530	0.2527	0.2940	0.2937	0.0410	0.1059	0.2429	0.0003	0.1687	0.1920	0.2948	0.2402	0.0686	0.1771	0.1771	0.1855	0.1683	0.2791	0.1753	0.1746	0.2758	0.2744	0.0499	0.2104	0.1593	0.2389	0.0016	0.1587	0.2109	0.2791	0.1856	0.0621	0.029	0.45756	D	0.08	0.41913	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1.73264e-07	0.58761	P	2.33	0.66821	M	-4.81	0.98183	D	-1.82	0.42763	N	0.158	0.16447	-1.7609	0.00000	T	0.001	0.00467	T	8	0.0029481053	0.00048	T	.	.	.	0.695	0.88960	.	.	.	.	0.863477434631447	0.86311	0.0660713889884	0.07370	0.289043188095	0.08784	T	0.826304	0.95806	D	-0.0145316	0.49629	T	0.35017	0.90322	D	0.0174764102512555	0.00483	T	0.885611	0.61095	D	0.5661954	0.70851	0.34258145	0.59982	0.5661954	0.70852	0.34258145	0.59981	-5.31	0.40042	T	0.5023316321969571	0.57735	0.143	0.31381	B	.	.	4.835361	0.78885	27.0	0.99957571441372317	0.99986	0.98215	0.80611	D	AEFGI	0.951836	0.96675	D	0.68763707772779	0.78821	6.949664	0.655048704856478	0.78985	6.988198	0.999827743249958	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	7.561000	0.81256	8.710000	0.78133	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.625	0.87992	894	0.26265	Tyrosinase copper-binding domain	.	.	.	.	rs1126809	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	0.159341	0.110169	0.144231	0.105263	0.500000	0.258929	0.234127	0.192308	0.1053	2951.43	62	chr11	89284793	.	G	A	2951.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.989;DP=735;ExcessHet=0.7564;FS=2.522;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=59.9;MQRankSum=0;QD=13.66;ReadPosRankSum=1.39;SOR=0.538	GT:AD:DP:GQ:PL	0/1:24,38:62:99:953,0,476	15	0	4	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_syndrome_and_Noonan-related_syndrome|Noonan-like_syndrome|not_provided	MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:C1834120|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	712.91	5	chr11	119206289	.	C	CCGG	712.91	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0;DP=193;ExcessHet=1.383;FS=1.24;InbreedingCoeff=-0.081;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.234;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,4:5:29:.:.:158,0,29:.	16	0	2	1
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_provided|not_specified|von_Willebrand_disease_type_2|Hereditary_von_Willebrand_disease|von_Willebrand_disease_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3421	2518.84	90	chr12	6018369	.	T	G	2518.84	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.118;DP=842;ExcessHet=13.8672;FS=7.854;InbreedingCoeff=-0.542;MLEAC=13;MLEAF=0.342;MQ=55.8;MQRankSum=-6.333;QD=3.86;ReadPosRankSum=1.54;SOR=0.316	GT:AD:DP:GQ:PL	0/1:64,26:90:99:419,0,1736	6	0	13	0
chr12	6936728	6936728	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1461_1462insCAGCAG:p.Q502_H503insQQ,ATN1:NM_001940:exon5:c.1461_1462insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	207990	Dentatorubral-pallidoluysian_atrophy|not_specified|not_provided	MONDO:MONDO:0007435,MedGen:C0751781,OMIM:125370,Orphanet:101|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021899	57	26028	rs782630098	0.0613	0.0616	0.0612	0.0614	0.1746	0.0609	0.0608	0.1711	0.1697	0.0200	0.0378	0.0348	0.1746	0.0210	0.0600	0.0613	0.0610	0.0697	0.0485	0.0495	0.0497	0.0473	0.1762	0.0476	0.0472	0.1663	0.1623	0.0228	0.0892	0.0464	0.0376	0.1762	0.0205	0.0243	0.0580	0.0408	0.0697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	30319.4	79	chr12	6936728	.	A	ACAGCAG	30319.4	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.939;DP=1487;ExcessHet=0.0524;FS=1.701;InbreedingCoeff=0.3603;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=33.76;ReadPosRankSum=-0.887;SOR=0.626	GT:AD:DP:GQ:PL	1/1:0,73:79:5:3260,233,0	14	3	2	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374648:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374649:exon1:c.136_147del:p.E48_S51del,PEX5:NM_000319:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131023:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001131024:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131025:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001300789:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351124:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351126:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351128:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351130:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351131:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351132:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351134:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351135:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351136:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351137:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351138:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351139:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374645:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374646:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131026:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351127:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351133:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351140:exon3:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	0	177	7	42	0	91	0.204494	.	.	.	778118	Peroxisome_biogenesis_disorder_2B|Rhizomelic_chondrodysplasia_punctata_type_5|not_specified|Peroxisome_biogenesis_disorder_2A_(Zellweger)|not_provided	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MedGen:CN169374|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.268e-05	0.0004	0	0	0	1.945e-05	0	0	3.84e-05	1	26028	rs757612863	0.2520	0.2523	0.2418	0.2624	0.7201	0.2513	0.2511	0.7131	0.7102	0.2717	0.3801	0.4508	0.7201	0.5171	0.2871	0.1987	0.3556	0.3579	0.5401	0.6749	0.5600	0.5186	0.6619	0.5362	0.5345	0.6379	0.6282	0.4367	0.4674	0.5855	0.6481	0.6619	0.4898	0.5586	0.6009	0.5226	0.2956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	13088.5	19	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	13088.5	.	AC=29;AF=0.763;AN=38;BaseQRankSum=3.05;DP=1223;ExcessHet=0.0003;FS=21.899;InbreedingCoeff=0.6833;MLEAC=29;MLEAF=0.763;MQ=59.36;MQRankSum=0;QD=31.75;ReadPosRankSum=0.192;SOR=2.092	GT:AD:DP:GQ:PL	1/1:0,19:19:74:890,74,0	4	14	1	0
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	15	41	80	27	63	197	0.62037	.	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	11234.8	27	chr12	21174718	.	T	TA	11234.8	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.433;DP=1312;ExcessHet=10.2499;FS=0;InbreedingCoeff=-0.4258;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.352;SOR=0.734	GT:AD:DP:GQ:PL	1/0:2,14:27:99:581,200,175	2	0	17	0
chr12	32878416	32878416	C	G	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon3:c.G464C:p.S155T,PKP2:NM_004572:exon3:c.G464C:p.S155T	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	YES	54246	Primary_familial_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_dysplasia_9|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiomyopathy|not_specified	MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200,Orphanet:217607|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|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:CN230736|MedGen:C3661900|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.259	0.394674920223	7.7e-05	.	3.299e-05	0	0.0002	0	0	3.001e-05	0	0	2.59e-05	4	154602	rs141438322	5.062e-05	5.062e-05	3.948e-05	6.188e-05	0.0021	4.125e-05	3.778e-05	0.0012	0.0009	2.987e-05	6.708e-05	0	0	0	0.0021	4.047e-05	0.0001	5.797e-05	3.286e-05	3.284e-05	3.854e-05	2.691e-05	5.88e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.88e-05	0	0	0.024	0.53172	D	0.288	0.26714	T	0.952	0.54136	P	0.6	0.50752	P	0.086079	0.20607	N	0.486374	0.612199	0.30851	N	2.175	0.60977	M	-1.57	0.81900	D	-1.18	0.30140	N	0.383	0.42443	0.125	0.84616	D	0.556	0.83780	D	10	0.27837878	0.45407	T	0.394675	0.93265	D	0.259	0.57090	.	.	0.856265283402	0.85488	0.5083121000048116	0.50753	0.485800927683	0.47462	0.438046455383	0.30310	T	0.204999	0.56394	T	-0.121879	0.32816	T	-0.215876	0.53133	T	0.127116584558858	0.15112	T	0.693131	0.30283	T	0.15544437	0.35131	0.13602787	0.32553	0.15544437	0.35131	0.13602787	0.32552	-5.755	0.44180	T	0.2997177093397476	0.39700	0.122	0.25298	B	.;.	.;.	2.842582	0.37510	20.5	0.99465552659774736	0.66049	0.94958	0.62924	D	AEFDGBI	0.629291	0.61106	D	0.363809009884692	0.59474	4.126952	0.3919860945261	0.61070	4.302132	0.999999978609629	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.52	5.52	0.82153	3.014000	0.49278	7.534000	0.59965	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:1.0:0.0:0.0	17.263	0.86963	667	0.61242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	1602.33	132	chr12	32878416	.	C	G	1602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.65;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.73;SOR=0.695	GT:AD:DP:GQ:PL	0/1:71,61:132:99:1616,0,1946	18	0	1	0
chr12	47845054	47845054	C	A	intronic	VDR	.	.	.	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	84	358	570	510	0	1590	0.689506	.	.	.	1242175	Hepatocellular_carcinoma|not_provided|Vitamin_D-dependent_rickets_type_II_with_alopecia|Periodontitis	Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C3661900|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5622	0.515375	0.5187	0.6234	0.3909	0.2778	0.5489	0.5375	0.5256	0.5796	0.50879	78660	154602	rs7975232	0.5254	0.5252	0.5231	0.5277	0.6365	0.5244	0.5240	0.6294	0.6264	0.6365	0.4233	0.5667	0.3056	0.5525	0.6244	0.5274	0.5314	0.5759	0.5491	0.5493	0.5492	0.5489	0.6267	0.5459	0.5446	0.6203	0.6176	0.6267	0.5894	0.5041	0.5828	0.2901	0.5503	0.5548	0.5281	0.5518	0.5587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	6535.2	10	chr12	47845054	.	C	A	6535.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-1.626;DP=348;ExcessHet=0.1862;FS=5.896;InbreedingCoeff=0.2547;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=25.23;ReadPosRankSum=1.02;SOR=0.353	GT:AD:DP:GQ:PL	1/1:0,10:10:30:404,30,0	5	7	7	0
chr12	47879112	47879112	A	G	exonic	VDR	.	startloss	VDR:NM_001374662:exon2:c.T2C:p.M1?,VDR:NM_000376:exon3:c.T2C:p.M1?,VDR:NM_001017536:exon3:c.T152C:p.M51T,VDR:NM_001374661:exon3:c.T2C:p.M1?,VDR:NM_001017535:exon4:c.T2C:p.M1?	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	6	103	520	893	0	2306	0.917994	.	.	YES	331088	Periodontitis|not_provided|not_specified|Vitamin_D-dependent_rickets_type_II_with_alopecia	Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.503	.	0.6732	0.671526	0.6376	0.7880	0.5203	0.5448	0.6403	0.6138	0.6512	0.7671	0.62549	96702	154602	rs2228570	0.6253	0.6253	0.6210	0.6296	0.7904	0.6242	0.6238	0.7824	0.7791	0.7904	0.5345	0.5612	0.5913	0.6341	0.7321	0.6142	0.6362	0.7660	0.6621	0.6625	0.6611	0.6633	0.7801	0.6587	0.6573	0.7730	0.7701	0.7801	0.7368	0.5776	0.5716	0.5697	0.6440	0.6939	0.6163	0.6895	0.7391	0.0	0.91255	D	0.013	0.63109	D	0.289	0.32288	B	0.275	0.40079	B	0.000031	0.55875	D	0.149012	0.989818	0.81001	P	.	.	.	-3.24	0.93882	D	0.36	0.09460	N	0.34	0.38129	-0.9252	0.44829	T	0.000	0.00011	T	8	8.306137e-06	0.00003	T	.	.	.	0.503	0.78538	.	.	.	.	0.3450707945471	0.34421	0.570787460381	0.53228	0.625708281994	0.56536	T	0.324761	0.69555	T	-0.283926	0.10255	T	-0.036796	0.67917	D	0.0963817504551405	0.11954	T	0.9	0.65058	D	0.68792903	0.77399	0.63474244	0.78679	0.6637955	0.76103	0.5718023	0.75203	-7.866	0.60153	D	.	.	0.232	0.46516	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.762546	0.36239	20.2	0.99030006853180141	0.50786	0.91887	0.54478	D	AEFDBI	0.433632	0.49501	N	0.245728946061445	0.53428	3.511683	0.278389843584115	0.54280	3.593452	0.999289017433705	0.39007	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.58	2.89	0.32713	4.354000	0.59193	6.099000	0.53531	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.8342:0.0:0.1658:0.0	9.950	0.40804	884	0.28482	.;.;.;.;.;.;.	RP1-228P16.1	Spleen	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.734642	0.696970	0.716033	0.745614	0.450000	0.810345	0.768293	0.768939	0.7895	28523.7	90	chr12	47879112	.	A	G	28523.7	.	AC=30;AF=0.789;AN=38;BaseQRankSum=-0.359;DP=1240;ExcessHet=0.6689;FS=0;InbreedingCoeff=0.05;MLEAC=30;MLEAF=0.789;MQ=60;MQRankSum=0;QD=24.76;ReadPosRankSum=0.867;SOR=0.663	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2722,269,0	1	12	6	0
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L,HNF1A:NM_001306179:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	2	270	714	536	0	1786	0.767842	.	.	YES	134680	not_provided|Maturity-onset_diabetes_of_the_young_type_3|not_specified|Type_2_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4175	0.428514	0.4722	0.3467	0.4430	0.3969	0.4887	0.4772	0.5226	0.5739	0.0001537	4	26028	rs1169289	0.4566	0.4566	0.4516	0.4616	0.6297	0.4557	0.4553	0.6126	0.6057	0.3411	0.4475	0.5840	0.4311	0.4803	0.6297	0.4472	0.4625	0.5707	0.4301	0.4302	0.4244	0.4360	0.5691	0.4273	0.4262	0.5513	0.5441	0.3324	0.4382	0.4585	0.5786	0.3892	0.4991	0.6293	0.4561	0.4691	0.5691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.600505	0.586735	0.589674	0.664706	0.400000	0.646552	0.592025	0.595420	0.6053	34378.8	82	chr12	120978819	.	C	G	34378.8	.	AC=23;AF=0.605;AN=38;BaseQRankSum=0.693;DP=2079;ExcessHet=4.2649;FS=0;InbreedingCoeff=-0.2116;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=17.8;ReadPosRankSum=-0.18;SOR=0.675	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2676,245,0	2	6	11	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	363	726	432	0	1590	0.686528	0	0.002	.	134677	Maturity_onset_diabetes_mellitus_in_young|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Type_2_diabetes_mellitus|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5263	45289.9	207	chr12	120997672	.	G	A	45289.9	.	AC=20;AF=0.526;AN=38;BaseQRankSum=1.6;DP=2635;ExcessHet=5.5644;FS=0.544;InbreedingCoeff=-0.2667;MLEAC=20;MLEAF=0.526;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=0.206;SOR=0.636	GT:AD:DP:GQ:PL	1/1:0,207:207:99:6459,620,0	3	4	12	0
chr13	113118845	113118845	G	A	exonic	F7	.	nonsynonymous SNV	F7:NM_001267554:exon6:c.G986A:p.R329Q,F7:NM_019616:exon8:c.G1172A:p.R391Q,F7:NM_000131:exon9:c.G1238A:p.R413Q	Factor VII deficiency, Autosomal recessive	0	910	520	92	0	704	0.278922	.	.	YES	27119	not_provided|not_specified|Factor_VII_deficiency|Myocardial_infarction,_decreased_susceptibility_to|Factor_X_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0002244,MeSH:D005168,MedGen:C0015503|.|MONDO:MONDO:0002247,MeSH:D005171,MedGen:C0015519	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	.	0.11	0.138379	0.1341	0.1259	0.1018	0.0533	0.0751	0.1210	0.1437	0.2757	0.125995	19479	154602	rs6046	0.1165	0.1164	0.1107	0.1223	0.2761	0.1160	0.1158	0.2732	0.2720	0.1225	0.1074	0.1911	0.0599	0.0736	0.2135	0.1056	0.1239	0.2761	0.1163	0.1164	0.1162	0.1165	0.2740	0.1149	0.1143	0.2618	0.2568	0.1210	0.1725	0.1158	0.2056	0.0477	0.0697	0.1803	0.1088	0.1317	0.2740	0.228	0.26519	T	0.165	0.30926	T	0.254	0.32525	B	0.005	0.13708	B	0.521729	0.11734	N	0.744753	1	0.08975	P	0.615	0.15706	N	-1.51	0.81399	D	-1.16	0.29727	N	0.085	0.06190	-1.1082	0.03229	T	0.005	0.01688	T	9	0.003981173	0.00077	T	.	.	.	0.188	0.46444	.	.	.	.	0.4174972918572176	0.41665	0.218615771125	0.24401	0.259455680847	0.04827	T	0.414242	0.76786	T	-0.531236	0.00378	T	-0.39204	0.34312	T	0.0032045131440866	0.00034	T	0.60024	0.22396	T	0.28302434	0.51337	0.20696844	0.44935	0.22008178	0.44555	0.15338038	0.36043	-4.203	0.26795	T	0.14956450594880755	0.17500	0.070	0.05060	B	.;.;.	.;.;.	0.864100	0.12365	8.904	0.9372641218980059	0.23653	0.01261	0.04425	N	AEFDBI	0.454247	0.50704	N	-1.30176004106169	0.03655	0.1636765	-1.42064976557785	0.03046	0.1413473	0.992292572482251	0.32788	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.11	-4.6	0.03148	-0.090000	0.11129	-0.358000	0.09695	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.5017:0.0:0.3766:0.1217	5.957	0.18512	988	0.01987	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	F7|F7|F10|F10|F10|F7|F7|F7|F7|F7|F7|F7|F10|F7|F10|F7|F7|F10|F7|F10|F7|F7|F10|F7|F7|F10|F10|F7|F10|F7|F7|F10|F7|F7|F7|F7|F7|F7|F10	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Thyroid	MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L	Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	rs6046	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.189325	0.080808	0.174387	0.211765	0.100000	0.215517	0.189024	0.238636	0.3421	55470.2	357	chr13	113118845	.	G	A	55470.2	.	AC=13;AF=0.342;AN=38;BaseQRankSum=2.99;DP=3072;ExcessHet=0.0278;FS=0;InbreedingCoeff=0.4154;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=21.01;ReadPosRankSum=0.155;SOR=0.711	GT:AD:DP:GQ:PL	1/1:0,357:357:99:11136,1070,0	10	4	5	0
chr14	23389062	23389062	-	G	intronic	MYH6	.	.	.	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	.	.	.	.	.	.	.	.	.	.	175563	Atrial_septal_defect|not_specified|Hypertrophic_cardiomyopathy_14|Dilated_Cardiomyopathy,_Dominant|Hypertrophic_cardiomyopathy|Cardiomyopathy|not_provided	Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478|MedGen:CN169374|MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|MedGen:CN239310|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.0003	0.0039	0.0059	0.0036	0.0031	0.0056	0.0123	0.0001153	3	26028	rs730880363	0.0037	0.0064	0.0032	0.0041	0.0132	0.0036	0.0035	0.0106	0.0103	0.0004	0.0052	0.0042	0.0070	0.0075	0.0132	0.0028	0.0036	0.0113	0.0071	0.0072	0.0067	0.0075	0.0216	0.0067	0.0066	0.0176	0.0162	0.0013	0.0074	0.0094	0.0096	0.0148	0.0058	0.0331	0.0096	0.0119	0.0216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	8671.05	40	chr14	23389062	.	A	AG	8671.05	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.78;DP=1043;ExcessHet=2.8258;FS=1.157;InbreedingCoeff=-0.1846;MLEAC=2;MLEAF=0.056;MQ=59.97;MQRankSum=0;QD=15.08;ReadPosRankSum=0.346;SOR=0.812	GT:AD:DP:GQ:PL	0/1:29,11:40:99:187,0,680	16	0	2	1
chr14	45159081	45159082	TA	-	intronic	FANCM	.	.	.	.	112	1082	255	73	0	401	0.156335	.	.	.	254944	not_specified|not_provided|Premature_ovarian_failure_15|Spermatogenic_failure_28|Fanconi_anemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1649	0.118211	0.2866	0.1333	0.3837	0.3597	0.2824	0.2839	0.3018	0.2884	0.0001153	3	26028	rs112326758	0.1122	0.1201	0.1094	0.1149	0.1935	0.1117	0.1115	0.1908	0.1897	0.0401	0.1465	0.1445	0.1311	0.1270	0.1417	0.1046	0.1161	0.1935	0.0911	0.0910	0.0895	0.0928	0.1830	0.0898	0.0893	0.1730	0.1690	0.0383	0.1634	0.1126	0.1321	0.1180	0.1093	0.1103	0.1032	0.1164	0.1830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	2573.36	16	chr14	45159080	.	TTA	T	2573.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0;DP=550;ExcessHet=2.0135;FS=0;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=-0.252;SOR=0.66	GT:AD:DP:GQ:PL	0/1:7,9:16:99:296,0,221	13	0	6	0
chr15	34791307	34791307	-	CA	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	322315	Left_ventricular_noncompaction_cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_restrictive_cardiomyopathy|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided|Atrial_septal_defect	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210,Orphanet:217635|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:CN239310|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020747	54	26028	rs767357797	0.0537	0.0905	0.0502	0.0571	0.0877	0.0533	0.0532	0.0859	0.0852	0.0708	0.0676	0.0639	0.0823	0.0800	0.0619	0.0460	0.0657	0.0877	0.1194	0.1243	0.1202	0.1185	0.1444	0.1179	0.1173	0.1412	0.1399	0.1444	0.0293	0.0882	0.0608	0.1144	0.1094	0.0899	0.1172	0.1079	0.1395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	38094.6	96	chr15	34791307	.	T	TCA	38094.6	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.584;DP=2645;ExcessHet=0.1204;FS=0.924;InbreedingCoeff=0.272;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=32.9;ReadPosRankSum=-0.06;SOR=0.854	GT:AD:DP:GQ:PL	0/1:8,21:96:99:2646,2201,2332	12	0	7	0
chr15	50586433	50586433	G	A	exonic	TRPM7	.	nonsynonymous SNV	TRPM7:NM_001301212:exon28:c.C4445T:p.T1482I,TRPM7:NM_017672:exon28:c.C4445T:p.T1482I	.	433	876	190	23	0	236	0.118712	.	.	.	19846	Amyotrophic_lateral_sclerosis-parkinsonism/dementia_complex_1,_susceptibility_to|TRPM7-related_disorder|Juvenile_amyotrophic_lateral_sclerosis|not_provided	.|.|MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	.	0.0797	0.0758786	0.0870	0.0202	0.0527	0.0765	0.0530	0.0998	0.0926	0.1180	0.0873598	13506	154602	rs8042919	0.1013	0.1018	0.1007	0.1018	0.1383	0.1008	0.1007	0.1352	0.1340	0.0163	0.0587	0.0692	0.1383	0.0548	0.0875	0.1069	0.0999	0.1075	0.0751	0.0751	0.0765	0.0737	0.1220	0.0740	0.0735	0.1139	0.1107	0.0215	0.0768	0.0644	0.0793	0.0980	0.0531	0.0952	0.1082	0.0804	0.1220	0.247	0.39575	T	0.121	0.42436	T	0.186	0.29254	B	0.098	0.30479	B	0.953328	0.08272	N	0.978397	0.717259	0.29956	P	0.895	0.22405	L	0.53	0.55266	T	-1.36	0.37375	N	0.014	0.00445	-1.0529	0.13601	T	0.002	0.00738	T	9	0.0014967024	0.00017	T	.	.	.	0.037	0.09474	.	.	.	.	0.3374016641413803	0.33653	0.130681104142	0.14746	0.357630670071	0.19040	T	0.195563	0.55168	T	-0.662195	0.00061	T	-0.580153	0.14532	T	0.00958415804392686	0.00124	T	0.585341	0.21547	T	0.020128323	0.00561	0.032518517	0.02001	0.020128323	0.00560	0.032518517	0.02001	-4.246	0.27412	T	.	.	0.126	0.34711	B	.;.;.	.;.;.	2.320220	0.29709	18.21	0.98708867514803611	0.45025	0.74352	0.36372	D	AEFBI	0.079394	0.16036	N	-0.34388404852293	0.27498	1.509134	-0.227690699432226	0.30549	1.720951	0.0124718101751214	0.12332	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.25	2.19	0.26890	1.985000	0.40289	2.360000	0.32366	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.1071:0.1809:0.5253:0.1866	2.709	0.04851	544	0.72685	.;.;.	SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|TRPM7|SPPL2A|RP11-562A8.4|SPPL2A|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|SPPL2A|TNFAIP8L3|SPPL2A|SPPL2A|SPPL2A|GLDN|TRPM7|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|AP4E1|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|RP11-562A8.5|USP50|SPPL2A|SPPL2A|AP4E1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Whole_Blood	SPPL2A|RP11-562A8.5|RP11-562A8.4|USP50	Cells_Cultured_fibroblasts|Testis|Testis|Testis	rs8042919	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.087702	0.071429	0.084239	0.070175	0.050000	0.120690	0.097561	0.090909	0.1053	4781.43	136	chr15	50586433	.	G	A	4781.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.41;DP=1092;ExcessHet=0.7564;FS=1.118;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=1.18;SOR=0.608	GT:AD:DP:GQ:PL	0/1:85,51:136:99:1222,0,1922	15	0	4	0
chr15	52330476	52330476	G	A	exonic	MYO5A	.	nonsynonymous SNV	MYO5A:NM_001142495:exon33:c.C4276T:p.P1426S,MYO5A:NM_000259:exon34:c.C4357T:p.P1453S,MYO5A:NM_001382347:exon35:c.C4432T:p.P1478S,MYO5A:NM_001382349:exon35:c.C4429T:p.P1477S,MYO5A:NM_001382348:exon36:c.C4504T:p.P1502S	Griscelli syndrome, type 1, Autosomal recessive	2	1516	4	0	0	4	0.00131752	.	.	.	739687	Inborn_genetic_diseases|Intellectual_disability|MYO5A-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	0.0148828240929	0.0008	0.000199681	0.0007	0.0001	0.0004	0	0	0.0011	0	0.0001	0.0006015	93	154602	rs147898420	0.0005	0.0005	0.0005	0.0005	0.0009	0.0005	0.0004	0.0003	0.0003	2.988e-05	0.0004	0.0103	0	0	0.0009	0.0003	0.0010	5.797e-05	0.0006	0.0006	0.0006	0.0006	0.0006	0.0005	0.0004	0.0005	0.0004	7.227e-05	0	0.0004	0.0107	0	0	0	0.0006	0	0	0.355	0.26192	T	0.304	0.20228	T	0.004	0.40146	B	0.004	0.32300	B	0.000000	0.84330	D	0.054574	1	0.81001	D	1.525	0.38595	L	2.32	0.16640	T	-1.53	0.50012	N	0.279	0.37197	-1.0408	0.17071	T	0.025	0.10643	T	10	0.008633822	0.00196	T	0.014883	0.35280	T	0.178	0.44724	.	.	0.380246515176	0.37641	0.6550470992789403	0.65440	0.904705909758	0.70791	0.775734901428	0.78285	T	0.073549	0.34725	T	-0.250057	0.14092	T	-0.249794	0.49838	T	0.0322505323795571	0.02347	T	0.984801	0.94749	D	0.1266123	0.29651	0.19195548	0.42683	0.13357201	0.31064	0.212632	0.45740	-2.365	0.05238	T	.	.	0.156	0.54847	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.043654	0.59881	24.2	0.99563063942108254	0.71892	0.98185	0.80341	D	AEFBI	0.820114	0.74098	D	-0.0376507001010593	0.40155	2.379973	0.184545217751244	0.49000	3.108633	0.999999999999885	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	7.668000	0.82869	11.883000	0.98886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.272	0.94000	325	0.86759	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	995.33	100	chr15	52330476	.	G	A	995.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.111;SOR=0.736	GT:AD:DP:GQ:PL	0/1:56,44:100:99:1009,0,1284	18	0	1	0
chr15	59256276	59256276	C	T	intronic	MYO1E	.	.	.	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	26	0	7	1489	0	2985	1	0	0	.	971023	not_specified|not_provided|Focal_segmental_glomerulosclerosis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9775	0.97504	0.9939	0.9331	0.9973	1	1	0.9998	0.9967	0.9999	0.950408	146935	154602	rs4508371	0.9981	0.9980	0.9978	0.9983	1.0000	0.9967	0.9961	0.9983	0.9976	0.9313	0.9973	1.0000	1.0000	1.0000	0.9970	0.9999	0.9960	0.9999	0.9812	0.9812	0.9812	0.9813	1.0000	0.9771	0.9753	0.9934	0.9908	0.9344	1.0000	0.9945	1.0000	1.0000	1.0000	0.9864	0.9997	0.9887	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	75303.4	194	chr15	59256276	.	C	T	75303.4	.	AC=38;AF=1;AN=38;BaseQRankSum=0.789;DP=2636;ExcessHet=0;FS=0;InbreedingCoeff=0;MLEAC=38;MLEAF=1;MQ=60;MQRankSum=0;QD=29.07;ReadPosRankSum=0.667;SOR=0.174	GT:AD:DP:GQ:PL	1/1:0,194:194:99:5433,582,0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	2338.57	7	chr15	68207979	.	GACAC	G	2338.57	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-0.431;DP=87;ExcessHet=0.6653;FS=2.304;InbreedingCoeff=0.085;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=32.94;ReadPosRankSum=0.674;SOR=0.487	GT:AD:DP:GQ:PL	1/0:0,3:7:99:250,140,159	7	2	5	5
chr15	68207979	68207979	-	AC	UTR3	CLN6	NM_017882:c.*160_*161insGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	323238	not_provided|Neuronal_Ceroid-Lipofuscinosis,_Recessive	MedGen:C3661900|MedGen:CN239323	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.334465	.	.	.	.	.	.	.	.	0.0030352	79	26028	rs138882836	0.3617	0.3201	0.3572	0.3657	0.5137	0.3603	0.3597	0.5067	0.5038	0.1449	0.3834	0.3623	0.5137	0.3802	0.3685	0.3407	0.3479	0.4469	0.3749	0.3760	0.3645	0.3859	0.7752	0.3723	0.3712	0.7549	0.7466	0.1625	0.5408	0.4370	0.4553	0.7752	0.4773	0.4041	0.4204	0.3920	0.6213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	2338.57	7	chr15	68207979	.	G	GAC	2338.57	.	AC=11;AF=0.393;AN=28;BaseQRankSum=-0.431;DP=87;ExcessHet=0.6653;FS=2.304;InbreedingCoeff=0.085;MLEAC=14;MLEAF=0.5;MQ=60;MQRankSum=0;QD=32.94;ReadPosRankSum=0.674;SOR=0.487	GT:AD:DP:GQ:PL	0/1:0,4:7:99:250,123,114	6	3	5	5
chr15	82538982	82538982	A	G	exonic	RPS17	.	synonymous SNV	RPS17:NM_001021:exon3:c.T159C:p.Y53Y	Diamond-Blackfan anemia 4, Autosomal dominant	21	707	596	198	0	992	0.412303	.	.	YES	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3421	16878.2	153	chr15	82538982	.	A	G	16878.2	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.375;DP=1603;ExcessHet=1.7862;FS=0.523;InbreedingCoeff=-0.0523;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.582;SOR=0.751	GT:AD:DP:GQ:PL	0/1:88,65:153:99:1352,0,2162	8	2	9	0
chr16	3254626	3254626	C	G	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon2:c.G442C:p.E148Q	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	2	1242	263	15	0	293	0.10551	.	.	YES	17581	Inborn_genetic_diseases|Familial_Mediterranean_fever,_autosomal_dominant|See_cases|Familial_Mediterranean_fever|not_specified|MEFV-related_disorder|not_provided|Acute_febrile_neutrophilic_dermatosis|Systemic_lupus_erythematosus|Autoinflammatory_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|.|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	.	0.0112	0.126398	0.0900	0.0184	0.0217	0.3150	0.0013	0.0197	0.0716	0.3018	0.0641648	9920	154602	rs3743930	0.0377	0.0376	0.0305	0.0450	0.2802	0.0374	0.0373	0.2772	0.2760	0.0171	0.0133	0.0539	0.2546	0.0019	0.0650	0.0131	0.0511	0.2802	0.0329	0.0330	0.0280	0.0380	0.2988	0.0321	0.0318	0.2860	0.2808	0.0159	0	0.0191	0.0582	0.2795	0.0018	0.0714	0.0127	0.0317	0.2988	0.007	0.59928	D	0.011	0.64786	D	0.995	0.67487	D	0.851	0.60700	P	0.003372	0.35041	N	0.131490	1	0.27475	P	1.83	0.48079	L	-1.07	0.76948	T	-1.3	0.32590	N	0.125	0.11769	-1.1028	0.03768	T	0.000	0.00039	T	9	0.0055573583	0.00123	T	.	.	.	0.274	0.59007	.	.	.	.	0.514001947169189	0.51322	0.534422499708	0.50847	0.454673349857	0.32582	T	0.400125	0.75778	T	-0.397484	0.02405	T	-0.199914	0.54654	T	0.0123424584187742	0.00201	T	0.79572	0.43862	T	0.1393041	0.32184	0.087836124	0.20442	0.12762725	0.29860	0.088540226	0.20650	-4.015	0.24027	T	.	.	0.132	0.28607	B	.	.	2.968483	0.39555	21.0	0.99364470562835017	0.61155	0.13031	0.17624	N	AEFDBI	0.123919	0.23974	N	-0.142306821722336	0.35564	2.044299	-0.309833529502108	0.27781	1.543952	0.999995932073785	0.74766	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.39	3.44	0.38486	0.734000	0.25769	.	.	0.599000	0.40250	0.027000	0.20232	0.930000	0.28522	0.049000	0.15107	0.0:0.898:0.0:0.102	8.711	0.33543	779	0.47767	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.081149	0.051546	0.061141	0.073099	0.050000	0.068966	0.060976	0.178030	0.1579	5174.4	49	chr16	3254626	.	C	G	5174.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.23;DP=783;ExcessHet=2.0135;FS=7.489;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=0.305;SOR=0.436	GT:AD:DP:GQ:PL	0/1:20,29:49:99:829,0,443	13	0	6	0
chr16	3608702	3608704	CTT	-	exonic	SLX4	.	nonframeshift deletion	SLX4:NM_032444:exon2:c.261_263del:p.R87del	Fanconi anemia, complementation group P, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	1157735	not_provided|Fanconi_anemia	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0005	0	0	0	0	1.498e-05	0.0033	0.0036	0.0004398	68	154602	rs536289991	0.0002	0.0002	0.0002	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0	5.396e-05	0.0003	0.0030	0.0001	0.0001	7.709e-05	0.0002	0.0037	8.66e-05	7.252e-05	0.0024	0.0020	0	0	0	0	0	0	0	2.94e-05	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3126.29	188	chr16	3608701	.	GCTT	G	3126.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.751;DP=851;ExcessHet=0;FS=0.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.95;MQRankSum=0;QD=16.63;ReadPosRankSum=0.034;SOR=0.62	GT:AD:DP:GQ:PL	0/1:104,84:188:99:3140,0,4036	18	0	1	0
chr16	23445970	23445970	A	-	intronic	COG7	.	.	.	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	334369	not_provided|Congenital_disorder_of_glycosylation|COG7_congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3899	0.3803	0.3566	0.3682	0.4249	0.3932	0.3811	0.3995	0.0002587	40	154602	rs71379679	0.3540	0.3620	0.3514	0.3567	0.3851	0.3531	0.3528	0.3797	0.3774	0.3470	0.3424	0.3544	0.3851	0.3561	0.3445	0.3513	0.3570	0.3803	0.2121	0.2083	0.2079	0.2167	0.3049	0.2100	0.2092	0.2916	0.2862	0.2187	0.1708	0.1807	0.1672	0.3049	0.2926	0.1352	0.1984	0.2037	0.2610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	3640.21	21	chr16	23445969	.	TA	T	3640.21	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.072;DP=876;ExcessHet=38.2876;FS=2.656;InbreedingCoeff=-0.8999;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=7.58;ReadPosRankSum=-0.114;SOR=0.889	GT:AD:DP:GQ:PL	0/1:6,15:21:79:249,0,79	1	0	18	0
chr16	28932950	28932950	T	G	exonic	CD19	.	nonsynonymous SNV	CD19:NM_001385732:exon2:c.T128G:p.L43R,CD19:NM_001178098:exon3:c.T395G:p.L132R,CD19:NM_001770:exon3:c.T395G:p.L132R	Immunodeficiency, common variable, 3, Autosomal recessive	1	1500	20	1	0	22	0.00727995	.	.	.	341123	Immunodeficiency,_common_variable,_3|not_provided	MONDO:MONDO:0013283,MedGen:C3150738,OMIM:613493,Orphanet:1572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.011	0.0171490735058	0.0004	0.000798722	0.0021	0.0008	0.0010	0	0.0038	0.0030	0.0025	0.0008	0.0011061	171	154602	rs146795664	0.0014	0.0014	0.0015	0.0013	0.0016	0.0014	0.0013	0.0016	0.0015	0.0003	0.0003	3.861e-05	0	0.0018	0.0016	0.0016	0.0009	0.0006	0.0009	0.0009	0.0008	0.0010	0.0014	0.0008	0.0008	0.0012	0.0011	0.0002	0.0022	0.0004	0	0	0.0023	0	0.0014	0.0009	0.0006	0.09	0.31987	T	0.425	0.13912	T	0.234	0.30717	B	0.06	0.26717	B	0.339731	0.04180	N	1.501650	1	0.08975	N	1.15	0.29295	L	1.22	0.37052	T	-2.66	0.56945	D	0.074	0.04790	-1.0284	0.20973	T	0.054	0.22731	T	10	0.005671203	0.00126	T	0.017149	0.38730	T	0.011	0.01250	.	.	0.220282294035	0.21616	0.3914835461063736	0.39063	0.362902455955	0.37930	0.24262291193	0.03031	T	0.508399	0.82570	D	-0.563012	0.00244	T	-0.585182	0.14086	T	0.0203081661200856	0.00731	T	0.39926	0.10144	T	0.22120807	0.44692	0.2367411	0.48953	0.40768832	0.61262	0.21182767	0.45626	-3.283	0.13583	T	0.5106336854894782	0.58443	0.071	0.04847	B	.;.;.	.;.;.	-0.545514	0.01726	0.128	0.66417886189451081	0.08053	0.02947	0.07774	N	ALL	0.069515	0.13762	N	-1.18463826909659	0.05232	0.2380287	-1.27509708751677	0.04769	0.2257717	0.999996912049621	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.28	-3.66	0.04200	-1.210000	0.03109	0.095000	0.14569	-0.692000	0.04118	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1453:0.4893:0.1462:0.2193	2.107	0.03469	440	0.80101	.;.;.	.	.	.	.	.	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	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1984.33	151	chr16	28932950	.	T	G	1984.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.434;DP=810;ExcessHet=0;FS=0.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.053;SOR=0.751	GT:AD:DP:GQ:PL	0/1:66,85:151:99:1998,0,1735	18	0	1	0
chr16	55810997	55810997	T	C	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon10:c.A1097G:p.Y366C,CES1:NM_001025195:exon10:c.A1100G:p.Y367C,CES1:NM_001266:exon10:c.A1094G:p.Y365C	Carboxylesterase 1 deficiency (3)	48	1451	22	1	0	24	0.00820232	.	.	.	3293315	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.180	0.0610627852147	0.0005	0.000399361	0.0008	0.0001	0.0014	0	0	0.0009	0.0011	0.0014	0.000815	126	154602	rs146595460	0.0006	0.0007	0.0006	0.0007	0.0232	0.0006	0.0006	0.0200	0.0188	0.0002	0.0017	3.83e-05	2.519e-05	1.873e-05	0.0232	0.0005	0.0016	0.0011	0.0007	0.0007	0.0008	0.0007	0.0018	0.0006	0.0006	0.0009	0.0007	0.0002	0	0.0010	0	0.0002	0	0.0216	0.0010	0.0021	0.0018	0.091	0.31834	T	0.139	0.36497	T	0.073	0.25085	B	0.067	0.31460	B	0.020799	0.26966	N	0.263259	1	0.08975	N	2.21	0.62235	M	-0.27	0.67367	T	-4.88	0.81514	D	0.619	0.63459	-0.7866	0.55927	T	0.248	0.61716	T	10	0.067707956	0.09472	T	0.061063	0.68209	D	0.180	0.45073	.	.	0.349647731962	0.34572	0.5888869046358343	0.58818	0.192353595073	0.21563	0.428192168474	0.28962	T	0.438382	0.78406	T	-0.385286	0.02884	T	-0.350841	0.39109	T	0.0287889939344479	0.01806	T	0.314169	0.08250	T	0.41461518	0.61731	0.35702112	0.61203	0.41461518	0.61732	0.35702112	0.61203	-5.588	0.63945	T	0.6357578900828309	0.70576	0.268	0.50232	B	.;.;.	.;.;.	1.116739	0.15023	11.52	0.56484486661834254	0.05562	0.04586	0.10236	N	AEFBI	0.392498	0.47052	N	-0.912229294996226	0.10555	0.504939	-0.968974354935353	0.10486	0.5284446	0.00248345263689058	0.09470	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.54	0.628	0.16854	-0.275000	0.08557	-10.792000	0.00665	-0.178000	0.10482	0.153000	0.23698	0.000000	0.08366	0.065000	0.16320	0.327:0.0:0.1696:0.5034	4.815	0.12728	928	0.17405	.;.;Carboxylesterase, type B	.	.	.	.	.	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	0.015106	0.030303	0.013587	0.023392	0.000000	0.017241	0.006098	0.003788	0.02632	2261.33	334	chr16	55810997	.	T	C	2261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.428;DP=1019;ExcessHet=0;FS=0.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=-1.543;SOR=0.646	GT:AD:DP:GQ:PL	0/1:223,111:334:99:2275,0,5497	18	0	1	0
chr16	56511263	56511263	T	C	exonic	BBS2	.	nonsynonymous SNV	BBS2:NM_001377456:exon3:c.A367G:p.I123V,BBS2:NM_031885:exon3:c.A367G:p.I123V	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive	7	1085	379	51	0	481	0.181441	.	.	YES	255825	Bardet-Biedl_syndrome|not_specified|Retinitis_pigmentosa_74|Bardet-Biedl_syndrome_1|not_provided|Bardet-Biedl_syndrome_2|Retinal_dystrophy	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374|MONDO:MONDO:0014692,MedGen:C4225281,OMIM:616562,Orphanet:791|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:C3661900|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.169	.	0.1954	0.263578	0.2092	0.2292	0.3062	0.4101	0.1777	0.1703	0.2080	0.1939	0.205702	31802	154602	rs11373	0.1869	0.1869	0.1878	0.1860	0.4109	0.1863	0.1861	0.4056	0.4034	0.2297	0.2862	0.2119	0.4109	0.1735	0.1505	0.1732	0.1982	0.1882	0.2072	0.2074	0.2067	0.2076	0.4000	0.2052	0.2045	0.3857	0.3798	0.2319	0.1020	0.2418	0.2044	0.4000	0.1837	0.1361	0.1761	0.2111	0.1922	0.562	0.06341	T	0.544	0.11829	T	.	.	.	.	.	.	0.006774	0.31811	N	0.376395	0.726341	0.29873	P	.	.	.	-1.58	0.81987	D	-0.24	0.11008	N	0.056	0.06454	-1.0141	0.25625	T	0.000	0.00011	T	9	0.0039009154	0.00074	T	.	.	.	0.169	0.43123	.	.	.	.	0.40657062324920235	0.40573	0.20816477634	0.23283	0.361940145493	0.19669	T	0.222663	0.58657	T	-0.576094	0.00204	T	-0.456476	0.26983	T	0.00215051843252122	0.00022	T	0.759724	0.38410	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00647	B	.;.	.;.	0.874631	0.12478	9.008	0.60179440470861367	0.06401	0.81298	0.40731	D	AEFBI	0.120463	0.23466	N	-0.808476354663507	0.13093	0.6426372	-0.64647875390651	0.18306	0.9772973	0.744928693620984	0.23270	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.9	0.542	0.16365	0.398000	0.20624	-0.822000	0.07291	0.654000	0.53741	0.997000	0.40164	0.001000	0.17328	0.854000	0.40426	0.0:0.3239:0.1315:0.5446	5.865	0.18019	453	0.79178	Ciliary BBSome complex subunit 2, N-terminal;.	OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT1E|RP11-413H22.3|RP11-413H22.3|RP11-413H22.3|OGFOD1|RP11-413H22.3|OGFOD1|RP11-413H22.3|MT4|OGFOD1|AMFR|RP11-413H22.3|OGFOD1|RP11-413H22.3|RP11-413H22.3|OGFOD1	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	BBS2|NUDT21|BBS2|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|NUDT21|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2|BBS2	Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Brain_Anterior_cingulate_cortex_BA24|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Putamen_basal_ganglia|Colon_Transverse|Heart_Left_Ventricle|Lung|Nerve_Tibial|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs11373	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	0.187311	0.237374	0.202446	0.140351	0.250000	0.172414	0.149390	0.200758	0.2632	15622.2	129	chr16	56511263	.	T	C	15622.2	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-0.303;DP=1545;ExcessHet=1.8686;FS=0;InbreedingCoeff=-0.0857;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.962;SOR=0.678	GT:AD:DP:GQ:PL	0/1:53,76:129:99:1983,0,1161	10	1	8	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	1453.09	136	chr17	3648932	.	G	C	1453.09	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.833;DP=2002;ExcessHet=20.8569;FS=327.302;InbreedingCoeff=-0.6585;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.11;SOR=11.838	GT:AD:DP:GQ:PL	0/1:86,36:136:18:18,0,1222	4	0	15	0
chr17	15999848	15999848	C	T	UTR5	TTC19	NM_001271420:c.-2076C>T;NM_017775:c.-1C>T	.	.	Mitochondrial complex III deficiency, nuclear type 2, Autosomal recessive	2	1513	7	0	0	7	0.00230795	.	.	YES	141476	not_specified|Mitochondrial_complex_III_deficiency_nuclear_type_2	MedGen:CN169374|MONDO:MONDO:0014063,MedGen:C3554605,OMIM:615157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00359425	0.0038	0	0	0.0434	0	0.0011	0	0.0024	0.0011772	182	154602	rs2302414	0.0009	0.0009	0.0009	0.0009	0.0240	0.0009	0.0008	0.0226	0.0221	3.449e-05	0.0002	0.0013	0.0240	2.952e-05	0	7.728e-05	0.0025	0.0019	0.0011	0.0011	0.0010	0.0012	0.0261	0.0010	0.0009	0.0225	0.0212	7.215e-05	0	0.0003	0.0017	0.0261	0	0	0.0001	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001044	0.000000	0.001389	0.002994	0.000000	0.000000	0.000000	0.000000	0.02632	371.33	47	chr17	15999848	.	C	T	371.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.437;DP=685;ExcessHet=0;FS=2.471;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=0.215;SOR=0.404	GT:AD:DP:GQ:PL	0/1:27,20:47:99:385,0,645	18	0	1	0
chr17	18130817	18130817	-	GTGTGT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327557	not_specified|not_provided|Hearing_loss,_autosomal_recessive	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015368	40	26028	rs1491181087	0.0309	0.0429	0.0293	0.0324	0.0457	0.0306	0.0305	0.0438	0.0430	0.0325	0.0356	0.0252	0.0457	0.0557	0.0313	0.0273	0.0398	0.0422	0.1218	0.1291	0.1239	0.1193	0.1398	0.1200	0.1192	0.1370	0.1359	0.1064	0.0505	0.1128	0.0768	0.0783	0.1064	0.1056	0.1398	0.1146	0.1030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	9986.06	19	chr17	18130817	.	A	AGTGTGT	9986.06	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0;DP=1961;ExcessHet=0.7564;FS=2.674;InbreedingCoeff=-0.1176;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=-0.267;SOR=0.411	GT:AD:DP:GQ:PL	1/0:4,7:19:33:355,33,197	12	0	7	0
chr17	18130817	18130817	-	GT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327562	not_specified|Hearing_loss,_autosomal_recessive|not_provided	MedGen:CN169374|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs1491181087	0.0508	0.0762	0.0487	0.0530	0.0674	0.0505	0.0503	0.0640	0.0633	0.0610	0.0556	0.0884	0.0385	0.0916	0.0674	0.0454	0.0670	0.0656	0.1518	0.1577	0.1527	0.1507	0.1608	0.1497	0.1488	0.1564	0.1547	0.1608	0.1330	0.1588	0.1560	0.0561	0.1838	0.1758	0.1499	0.1741	0.1314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	9986.06	19	chr17	18130817	.	A	AGT	9986.06	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0;DP=1961;ExcessHet=0.7564;FS=2.674;InbreedingCoeff=-0.1176;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=21.11;ReadPosRankSum=-0.267;SOR=0.411	GT:AD:DP:GQ:PL	0/1:4,4:19:33:355,196,248	10	0	9	0
chr17	19909228	19909228	T	C	exonic	AKAP10	.	nonsynonymous SNV	AKAP10:NM_001330152:exon13:c.A1762G:p.I588V,AKAP10:NM_007202:exon14:c.A1936G:p.I646V	.	429	489	464	140	0	744	0.432056	.	.	.	20443	Reclassified_-_variant_of_unknown_significance|AKAP10-related_disorder	.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.120	.	0.4504	0.39397	0.3737	0.5879	0.4229	0.1824	0.3464	0.3790	0.3377	0.2956	0.373016	57669	154602	rs203462	0.3854	0.3855	0.3891	0.3817	0.5952	0.3846	0.3842	0.5883	0.5855	0.5952	0.4193	0.3679	0.2016	0.3461	0.4069	0.3927	0.3889	0.3035	0.4277	0.4279	0.4312	0.4241	0.5838	0.4250	0.4238	0.5777	0.5751	0.5838	0.3626	0.4303	0.3698	0.1901	0.3480	0.4150	0.3766	0.4152	0.2874	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.000000	0.999797	0.20333	P	-2.015	0.00187	N	2.01	0.21291	T	0.31	0.04022	N	0.118	0.10769	-0.9687	0.37468	T	0.000	0.00011	T	9	5.4074975e-05	0.00009	T	.	.	.	0.120	0.33359	.	.	.	.	0.1933210593021231	0.19250	0.178928352935	0.20133	0.692670106888	0.66089	T	0.062406	0.31909	T	-0.636176	0.00088	T	-0.542779	0.18025	T	0.00597241672880667	0.00066	T	0.305869	0.05863	T	0.049374104	0.08756	0.061363425	0.11835	0.049374104	0.08756	0.061363425	0.11835	-1.044	0.01049	T	.	.	0.048	0.00179	B	.;.	.;.	1.819896	0.23127	15.90	0.48678567446506221	0.04082	0.07005	0.13031	N	AEFGBI	0.025493	0.01754	N	-0.652311836236643	0.17393	0.8946286	-0.344221069595134	0.26688	1.475766	0.998595863275224	0.37268	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.88	5.88	0.94564	3.391000	0.52271	5.998000	0.52441	-0.192000	0.09343	0.976000	0.34826	1.000000	0.68203	0.953000	0.50222	0.0:0.9244:0.0:0.0756	12.685	0.56308	587	0.69154	A-kinase anchor protein 10, PKA-binding (AKB) domain;A-kinase anchor protein 10, PKA-binding (AKB) domain	RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|AKAP10|RP11-209D14.2|RP11-78O7.2|AKAP10|RP11-209D14.2|CCDC144CP|RP11-78O7.2|RP11-78O7.2|RP11-78O7.2|CCDC144CP|RP11-78O7.2|USP32P3|RP11-78O7.2|RP11-78O7.2|CCDC144CP|USP32P3|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|RP11-78O7.2|RP11-78O7.2|AKAP10|LGALS9B|KRT16P3|RP11-78O7.2|AKAP10|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|AKAP10|RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|CCDC144CP|AKAP10|LGALS9B|RP11-78O7.2|AKAP10|RP11-78O7.2|LGALS9B|RP11-209D14.2|CCDC144CP|USP32P3|SRP68P3|NOS2P3|AC008088.4|RP11-78O7.2|AKAP10|CCDC144CP|USP32P3|RP11-209D14.4|AKAP10|LGALS9B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	AKAP10|CCDC144CP|CCDC144CP|CCDC144CP|CCDC144CP|KRT16P3|CCDC144CP|KRT17P7	Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Esophagus_Mucosa|Testis|Testis	rs203462	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.427923	0.474747	0.483696	0.461988	0.350000	0.431034	0.300613	0.378788	0.3421	15712.2	129	chr17	19909228	.	T	C	15712.2	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-0.399;DP=1420;ExcessHet=1.7862;FS=1.103;InbreedingCoeff=-0.0523;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.447;SOR=0.638	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1544,0,1404	8	2	9	0
chr17	21300880	21300880	C	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon5:c.C199T:p.R67W,MAP2K3:NM_145109:exon5:c.C286T:p.R96W,MAP2K3:NM_001316332:exon6:c.C199T:p.R67W	.	430	38	1047	7	0	1061	0.933157	.	.	.	1770503	not_specified|MAP2K3-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.375	.	.	.	0.4998	0.4999	0.4997	0.4986	0.5	0.4999	0.5	0.4999	0.0238677	3690	154602	rs56216806	0.4983	0.4983	0.4982	0.4985	0.4998	0.4974	0.4970	0.4969	0.4964	0.4981	0.4998	0.4992	0.4996	0.4998	0.4996	0.4980	0.4987	0.4994	0.5000	0.5000	0.5000	0.5000	0.5000	0.4970	0.4958	0.4955	0.4937	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.0	0.91255	D	0.043	0.56640	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999999	0.58761	D	2.88	0.83451	M	-0.23	0.66652	T	-4.91	0.82141	D	0.699	0.70351	-0.9444	0.41911	T	0.000	0.00011	T	10	0.0043037534	0.00087	T	.	.	.	0.375	0.69358	.	.	.	.	0.7188625825101859	0.71829	0.606269731864	0.55478	0.820443630219	0.85095	D	0.403427	0.76018	T	0.346235	0.86252	D	0.259566	0.86071	D	0.0378888073466841	0.03313	T	0.914509	0.70203	D	0.8805352	0.89711	0.8318533	0.90306	0.8805352	0.89712	0.8318533	0.90306	-15.158	0.96694	D	.	.	0.905	0.83091	P	.;.;.;.;.	.;.;.;.;.	5.775915	0.93501	33	0.98723007320009115	0.45230	0.81548	0.40929	D	AEFGBCI	0.787610	0.71734	D	0.664275873630775	0.77296	6.647485	0.610880277044446	0.75730	6.36224	0.999999998268304	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.716000	0.61607	5.995000	0.52393	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1566:0.8434:0.0:0.0	13.451	0.60626	824	0.40336	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.497986	0.494949	0.501359	0.497076	0.500000	0.500000	0.493902	0.500000	0.5	81486.4	356	chr17	21300880	.	C	T	81486.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.85;DP=4853;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=17.2;ReadPosRankSum=0.156;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,161:356:99:0|1:21300875_G_T:5986,0,7495:21300875	0	0	19	0
chr17	50192029	50192029	G	T	intronic	COL1A1	.	.	.	Caffey disease, Autosomal dominant;Ehlers-Danlos syndrome, classic, Autosomal dominant;Ehlers-Danlos syndrome, type VIIA, Autosomal dominant;Osteogenesis imperfecta, type I, Autosomal dominant;Osteogenesis imperfecta, type II, Autosomal dominant;Osteogenesis imperfecta, type III, Autosomal dominant;Osteogenesis imperfecta, type IV, Autosomal dominant	0	1510	12	0	0	12	0.00395778	0.0022	0.234	.	193768	Ehlers-Danlos/osteogenesis_imperfecta_syndrome|Ehlers-Danlos_syndrome,_arthrochalasia_type|Connective_tissue_disorder|Infantile_cortical_hyperostosis|not_specified|not_provided|COL1A1-related_disorder|Cardiovascular_phenotype|Ehlers-Danlos_syndrome|Osteogenesis_imperfecta_type_I|Osteogenesis_imperfecta	MONDO:MONDO:0016470,MedGen:C4518787,OMIM:PS619115,Orphanet:230857|MONDO:MONDO:0007525,MedGen:C4551623,OMIM:130060,Orphanet:1899,Orphanet:99875,Orphanet:99876|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0007244,MedGen:C0020497,OMIM:114000,Orphanet:1310|MedGen:CN169374|MedGen:C3661900|.|MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0008146,MedGen:C0023931,OMIM:166200,Orphanet:216796,Orphanet:666|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0033	0.00219649	0.0033	0.0011	0.0021	0.0003	0.0033	0.0049	0.0054	0.0008	0.0030918	478	154602	rs66592376	0.0040	0.0040	0.0041	0.0040	0.0048	0.0039	0.0039	0.0047	0.0046	0.0009	0.0024	7.669e-05	5.041e-05	0.0022	0.0035	0.0048	0.0038	0.0005	0.0029	0.0029	0.0031	0.0026	0.0050	0.0026	0.0025	0.0045	0.0044	0.0009	0	0.0022	0	0	0.0014	0.0034	0.0050	0.0028	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1688.33	133	chr17	50192029	.	G	T	1688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=1121;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.227;SOR=0.694	GT:AD:DP:GQ:PL	0/1:68,65:133:99:1702,0,1690	18	0	1	0
chr17	59064408	59064408	A	-	intronic	TRIM37	.	.	.	Mulibrey nanism, Autosomal recessive	3	160	18	1	44	64	0.0588235	.	.	.	329188	Mulibrey_nanism_syndrome|not_specified|not_provided	MONDO:MONDO:0009664,MedGen:C0524582,OMIM:253250,Orphanet:2576|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2284	.	0.3120	0.2552	0.3418	0.3266	0.2628	0.3084	0.3263	0.3404	0.0001921	5	26028	rs367700401	0.0985	0.1854	0.0961	0.1009	0.1579	0.0979	0.0977	0.1538	0.1521	0.0942	0.1579	0.1212	0.1240	0.1151	0.0828	0.0923	0.1014	0.1258	0.0021	0.0042	0.0020	0.0023	0.0026	0.0019	0.0018	0.0022	0.0021	0.0008	0	0.0013	0.0006	0.0006	0.0087	0.0035	0.0026	0.0021	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3566.62	108	chr17	59064407	.	TA	T	3566.62	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.07;DP=1511;ExcessHet=4.0268;FS=0;InbreedingCoeff=-0.2482;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=3.7;ReadPosRankSum=-0.125;SOR=0.682	GT:AD:DP:GQ:PL	0/1:89,19:108:99:213,0,2138	14	0	5	0
chr17	80084982	80084982	G	C	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon13:c.G2229C:p.E743D,CCDC40:NM_017950:exon13:c.G2229C:p.E743D	Ciliary dyskinesia, primary, 15	2	1508	12	0	0	12	0.00396301	.	.	.	684722	Primary_ciliary_dyskinesia_15|Primary_ciliary_dyskinesia	MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	0.0127828540071	0.0005	.	0.0002	0	8.948e-05	0	0	0.0003	0	0.0003	0.0001746	27	154602	rs377219039	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0	0.0001	0.0004	0	7.555e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0002	0	0	0.0005	0.0006	0	0	0.0034	0.0003	0	0.0002	0.258	0.16738	T	0.332	0.39340	T	0.091	0.25247	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	1.8	0.47472	L	0.84	0.47477	T	-1.13	0.29114	N	0.179	0.19995	-0.9847	0.33903	T	0.125	0.42903	T	9	0.04432112	0.03376	T	0.012783	0.31649	T	0.066	0.19193	0.112	0.02175	0.0846915920261	0.08053	0.14519740819216256	0.14442	0.166350972755	0.18771	0.50788640976	0.39927	T	0.068592	0.33496	T	-0.492061	0.00633	T	-0.63407	0.10107	T	0.0316234454512596	0.02246	T	0.624238	0.24084	T	0.12479752	0.29272	0.14009024	0.33404	0.12629017	0.29583	0.11753162	0.28372	-4.621	0.32435	T	0.5833244653021936	0.65014	0.136	0.29697	B	.;.	.;.	2.246626	0.28697	17.88	0.98731452613120307	0.45363	0.35098	0.25222	N	AEFDGBI	0.123745	0.23950	N	-0.54550014646685	0.20625	1.088645	-0.539586674290993	0.21083	1.138833	3.8526206416725E-4	0.06781	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.06	0.976	0.18846	0.417000	0.20934	2.183000	0.31145	0.596000	0.33519	0.790000	0.29595	0.998000	0.33993	0.849000	0.40138	0.3431:0.0:0.6569:0.0	10.707	0.45160	884	0.28482	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1584.33	142	chr17	80084982	.	G	C	1584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.432;DP=787;ExcessHet=0;FS=0.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.045;SOR=0.8	GT:AD:DP:GQ:PL	0/1:78,64:142:99:1598,0,2048	18	0	1	0
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	6	48	368	1100	0	2568	0.963964	.	.	.	1182690	not_provided|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8421	62918.4	187	chr17	80184264	.	G	A	62918.4	.	AC=32;AF=0.842;AN=38;BaseQRankSum=-0.35;DP=2370;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.2083;MLEAC=32;MLEAF=0.842;MQ=60;MQRankSum=0;QD=27.99;ReadPosRankSum=0.48;SOR=0.776	GT:AD:DP:GQ:PL	0/1:94,93:187:99:2327,0,2423	1	14	4	0
chr17	80202434	80202434	T	A	UTR3	CARD14	NM_001257970:c.*10T>A	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	3	581	641	245	52	1183	0.49324	.	.	.	390303	not_specified|Psoriasis_2|Pityriasis_rubra_pilaris|not_provided	MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4160	0.35623	0.4195	0.2494	0.2489	0.4706	0.4337	0.4886	0.4391	0.3357	0.411004	63542	154602	rs8069255	0.4789	0.4785	0.4821	0.4756	0.5504	0.4779	0.4775	0.5443	0.5418	0.2463	0.2746	0.4213	0.5504	0.4314	0.4130	0.5079	0.4544	0.3360	0.4042	0.4042	0.4084	0.3999	0.5012	0.4015	0.4004	0.4967	0.4949	0.2537	0.7039	0.3372	0.4129	0.4998	0.4307	0.3946	0.5012	0.4019	0.3226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	26991.2	139	chr17	80202434	.	T	A	26991.2	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.364;DP=1567;ExcessHet=0.463;FS=1.308;InbreedingCoeff=0.1556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=21.04;ReadPosRankSum=0.691;SOR=0.58	GT:AD:DP:GQ:PL	1/1:0,139:139:99:4516,417,0	6	5	8	0
chr17	80205094	80205094	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_024110:exon18:c.C2458T:p.R820W,CARD14:NM_001366385:exon21:c.C2458T:p.R820W	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	50	677	568	227	0	1022	0.430135	.	.	YES	390229	Autoinflammatory_syndrome|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	.	0.4093	0.353035	0.4244	0.2458	0.2536	0.4728	0.4509	0.4913	0.4363	0.3466	0.416469	64387	154602	rs11652075	0.4774	0.4773	0.4804	0.4744	0.5465	0.4765	0.4761	0.5404	0.5379	0.2319	0.2729	0.4216	0.5465	0.4308	0.4053	0.5063	0.4514	0.3424	0.3995	0.3997	0.4035	0.3954	0.4991	0.3969	0.3958	0.4946	0.4928	0.2409	0.7044	0.3346	0.4127	0.4952	0.4305	0.3844	0.4991	0.4020	0.3313	0.004	0.65419	D	0.035	0.52389	D	0.912	0.50421	P	0.17	0.35299	B	0.044886	0.23592	N	0.424901	0.99932	0.21372	P	1.04	0.26193	L	3.41	0.05574	T	-3.87	0.72594	D	0.111	0.10626	-0.9523	0.40573	T	0.000	0.00011	T	9	0.00018051267	0.00010	T	.	.	.	0.108	0.30607	.	.	.	.	0.6907763373857173	0.69017	0.3656648137	0.38159	0.328153610229	0.14655	T	0.159702	0.50324	T	-0.676618	0.00050	T	-0.600871	0.12738	T	0.0284327208824887	0.01751	T	0.822018	0.48145	T	0.073126465	0.16318	0.09188487	0.21627	0.08949082	0.20911	0.07744421	0.17251	-9.283	0.69500	D	0.35371682974795465	0.45071	0.107	0.20117	B	.;.;.	.;.;.	2.706086	0.35358	19.88	0.99284288146199018	0.58008	0.56796	0.30209	D	AEFDBCI	0.414520	0.48375	N	-0.377503514459143	0.26272	1.432592	-0.419791073847034	0.24417	1.336925	0.753767999298708	0.23401	0.554377	0.28877	0	0.550933	0.16991	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.09	1.85	0.24418	2.561000	0.45567	2.570000	0.33360	-0.249000	0.07183	0.963000	0.33788	0.978000	0.30204	0.008000	0.08271	0.3814:0.4907:0.0:0.128	4.371	0.10680	862	0.33134	.;.;.	CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood	RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|SGSH|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|SGSH	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	rs11652075	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.422805	0.408163	0.445504	0.473684	0.350000	0.456897	0.380368	0.367424	0.4474	45386.8	286	chr17	80205094	.	C	T	45386.8	.	AC=17;AF=0.447;AN=38;BaseQRankSum=0.493;DP=2511;ExcessHet=0.1862;FS=0;InbreedingCoeff=0.2549;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=20.54;ReadPosRankSum=0.31;SOR=0.696	GT:AD:DP:GQ:PL	1/1:0,286:286:99:8805,857,0	7	5	7	0
chr19	50401786	50401786	C	G	exonic	POLD1	.	nonsynonymous SNV	POLD1:NM_001308632:exon3:c.C325G:p.Q109E,POLD1:NM_001256849:exon4:c.C325G:p.Q109E,POLD1:NM_002691:exon4:c.C325G:p.Q109E	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Autosomal dominant	394	1127	1	0	0	1	0.000443459	.	.	.	575024	Mandibular_hypoplasia-deafness-progeroid_syndrome|Immunodeficiency_120|Colorectal_cancer,_susceptibility_to,_10|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0014157,MedGen:C3715192,OMIM:615381,Orphanet:363649|MONDO:MONDO:0970994,MedGen:C5935622,OMIM:620836|MONDO:MONDO:0012953,MedGen:C2675481,OMIM:612591,Orphanet:220460|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.020	0.00752956566928	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334973313	6.849e-06	6.84e-06	2.726e-06	1.101e-05	0.0002	3.46e-06	2.53e-06	3.766e-05	2.662e-05	0	0	0	0	0	0.0002	1.799e-06	0	8.117e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.906	0.02389	T	0.985	0.12562	T	0.0	0.02946	B	0.001	0.04355	B	0.316035	0.04044	N	1.579440	1	0.08975	N	-0.345	0.03330	N	1.98	0.21865	T	0.12	0.05604	N	0.042	0.01498	-1.0019	0.29372	T	0.022	0.09513	T	10	0.030182868	0.01145	T	0.00753	0.19979	T	0.020	0.03691	0.205	0.12076	0.276482976112	0.27267	0.22109416487393044	0.22024	0.204660752202	0.22886	0.329291522503	0.14826	T	0.126352	0.45267	T	-0.431072	0.01460	T	-0.653381	0.08718	T	0.019820396986193	0.00684	T	0.711729	0.32279	T	0.05119302	0.09364	0.037501384	0.03416	0.05119302	0.09363	0.037501384	0.03416	-4.557	0.31627	T	.	.	0.088	0.11606	B	.;.;.;.;.	.;.;.;.;.	0.026342	0.04469	1.185	0.68772820414857105	0.08762	0.08130	0.14097	N	AEFDBHCI	0.060527	0.11509	N	-1.311968073188	0.03537	0.158176	-1.29906438875342	0.04443	0.2096168	0.00387273744073212	0.10318	0.712529	0.81865	0	0.724815	0.89359	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	3.85	0.233	0.14656	0.293000	0.18785	0.381000	0.17781	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.083000	0.17415	0.0:0.5191:0.2244:0.2565	3.289	0.06533	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.05263	3340.81	106	chr19	50401786	.	C	G	3340.81	.	AC=2;AF=0.053;AN=38;DP=878;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.52;SOR=1.893	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3368,318,0	18	1	0	0
chr19	55156279	55156279	C	A	exonic	TNNI3	.	unknown	UNKNOWN	Cardiomyopathy, dilated, 1FF;Cardiomyopathy, familial restrictive, 1, Autosomal dominant;Cardiomyopathy, hypertrophic, 7, Autosomal dominant	0	1410	107	5	0	117	0.0398366	.	.	YES	52536	Hypertrophic_cardiomyopathy|Cardiomyopathy|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome|Dilated_cardiomyopathy_2A|Cardiomyopathy,_familial_restrictive,_1|not_provided|Cardiovascular_phenotype|not_specified|Hypertrophic_cardiomyopathy_7|Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN239247|MONDO:MONDO:0012746,MedGen:C2678474,OMIM:611880,Orphanet:154|MONDO:MONDO:0007270,MedGen:C1861861,OMIM:115210,Orphanet:75249|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0013369,MedGen:C1860752,OMIM:613690|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0368	0.0227636	0.0461	0.0086	0.0151	0	0.0951	0.0649	0.0406	0.0236	0.0365713	5654	154602	rs3729711	0.0501	0.0501	0.0504	0.0497	0.0559	0.0498	0.0496	0.0555	0.0553	0.0078	0.0183	0.0422	0.0002	0.0792	0.0328	0.0559	0.0440	0.0215	0.0392	0.0392	0.0389	0.0395	0.0567	0.0384	0.0380	0.0552	0.0546	0.0089	0.1217	0.0314	0.0380	0.0002	0.0809	0.0408	0.0567	0.0313	0.0176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021397173	0.00031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.366501	0.03775	T	-0.257494	0.49073	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.50880	B	.	.	1.057261	0.14390	10.96	0.93413201715812977	0.23177	0.65600	0.32792	D	AEFDBHCI	0.472690	0.51769	N	.	.	.	.	.	.	0.999994663260938	0.74766	0.72623	0.87236	0	0.578056	0.33634	0	0.594344	0.31042	0	0.620976	0.48614	0	.	.	4.42	2.15	0.26590	0.100000	0.15067	-0.636000	0.08101	0.599000	0.40250	0.072000	0.22128	0.018000	0.20648	0.993000	0.69303	0.354:0.4448:0.0:0.2012	3.418	0.06954	988	0.01987	.	PPP6R1|TMEM86B	Esophagus_Mucosa|Thyroid	.	.	rs3729711	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.034240	0.040404	0.019074	0.029240	0.050000	0.034483	0.057927	0.034091	0.02632	2963.33	219	chr19	55156279	.	C	A	2963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.172;DP=862;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.766;SOR=0.724	GT:AD:DP:GQ:PL	0/1:112,107:219:99:2977,0,3012	18	0	1	0
chr19	57231146	57231146	-	C	UTR5	AURKC	NM_001015878:c.-103_-102insC	.	.	Spermatogenic failure 5, Autosomal recessive	65	466	590	401	0	1392	0.598967	.	.	.	334414	not_provided|Spermatogenic_Failure	MedGen:C3661900|MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4072	0.3027	0.4348	0.1299	0.4643	0.4440	0.3444	0.4291	0.0002135	33	154602	rs1222518063	0.5018	0.4825	0.5004	0.5033	0.5193	0.5008	0.5004	0.5182	0.5177	0.3396	0.4275	0.5439	0.1515	0.5479	0.4851	0.5193	0.4757	0.5051	0.4596	0.4598	0.4598	0.4594	0.5284	0.4567	0.4556	0.5239	0.5220	0.3529	0.6520	0.4464	0.5419	0.1650	0.5417	0.4795	0.5284	0.4558	0.4827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	9538.71	71	chr19	57231146	.	G	GC	9538.71	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.183;DP=1031;ExcessHet=0.233;FS=0.547;InbreedingCoeff=0.229;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=-0.241;SOR=0.744	GT:AD:DP:GQ:PL	0/1:55,16:71:99:308,0,1584	8	4	7	0
chr20	3231385	3231385	G	A	exonic	SLC4A11	.	nonsynonymous SNV	SLC4A11:NM_032034:exon7:c.C941T:p.A314V,SLC4A11:NM_001174089:exon8:c.C893T:p.A298V,SLC4A11:NM_001174090:exon8:c.C1022T:p.A341V,SLC4A11:NM_001363745:exon8:c.C893T:p.A298V	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	0	1496	26	0	0	26	0.00861498	.	.	.	350834	Corneal_dystrophy|not_specified|not_provided|Corneal_dystrophy-perceptive_deafness_syndrome	Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.166	0.0187135128428	0.0008	0.00119808	0.0015	0.0006	0.0006	0	0	0.0008	0	0.0067	0.0012678	196	154602	rs141705330	0.0008	0.0008	0.0006	0.0011	0.0070	0.0008	0.0008	0.0066	0.0064	0	0.0004	0.0003	0	0	0.0052	0.0004	0.0007	0.0070	0.0005	0.0005	0.0005	0.0006	0.0044	0.0004	0.0004	0.0029	0.0025	0.0002	0	0.0003	0	0	9.416e-05	0.0068	0.0006	0.0009	0.0044	0.354	0.12552	T	0.191	0.31326	T	0.003	0.11197	B	0.001	0.04355	B	0.000001	0.00162	N	13.587100	1	0.08975	N	0.345	0.11182	N	-1.54	0.81640	D	-0.39	0.13611	N	0.08	0.07673	-0.9407	0.42505	T	0.219	0.58201	T	10	0.0050378144	0.00109	T	0.018714	0.40862	T	0.166	0.42578	.	.	0.642064274222	0.63911	0.306582639853875	0.30571	0.290139097173	0.31421	0.241381689906	0.02915	T	0.101468	0.40826	T	-0.521002	0.00434	T	-0.517294	0.20570	T	0.00439368681966606	0.00047	T	0.536546	0.18022	T	0.029162891	0.02367	0.03209558	0.01894	0.029136235	0.02359	0.026908126	0.00808	-4.487	0.30718	T	0.11561704083363232	0.10363	0.063	0.01692	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.122019	0.05193	1.706	0.9626825965019713	0.29240	0.02514	0.07011	N	AEFDBI	0.049290	0.08500	N	-1.17554916748796	0.05371	0.2447011	-1.18841041539026	0.06102	0.2927229	0.998806152889605	0.37711	0.706298	0.61202	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.08	-1.19	0.09091	-0.460000	0.06797	0.496000	0.18948	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2122:0.1472:0.3088:0.3318	0.602	0.00699	452	0.79239	.;.;.;.;.;.;.	.	.	.	.	.	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	0.005035	0.000000	0.004076	0.008772	0.000000	0.008621	0.012195	0.000000	0.05263	4521.83	220	chr20	3231385	.	G	A	4521.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.579;DP=1079;ExcessHet=0.119;FS=5.195;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.174;SOR=0.699	GT:AD:DP:GQ:PL	0/1:119,101:220:99:2359,0,2747	17	0	2	0
chr20	18546201	18546201	A	G	intronic	SEC23B	.	.	.	Cowden syndrome 7, Autosomal dominant;Dyserythropoietic anemia, congenital, type II, Autosomal recessive	437	1075	7	3	0	13	0.00601017	.	.	.	695845	not_provided|Congenital_dyserythropoietic_anemia,_type_II|Cowden_syndrome_7	MedGen:C3661900|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100,Orphanet:98873|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Orphanet:201	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00638978	.	.	.	.	.	.	.	.	0.011065	288	26028	rs111951711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0080	0.0080	0.0084	0.0075	0.0127	0.0076	0.0075	0.0120	0.0117	0.0026	0	0.0078	0.0078	0.0002	0.0008	0.0136	0.0127	0.0133	0.0112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	194.4	14	chr20	18546201	.	A	G	194.4	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.09;DP=259;ExcessHet=0;FS=0;InbreedingCoeff=-0.0318;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-1.204;SOR=1.402	GT:AD:DP:GQ:PL	0/1:8,6:14:99:208,0,244	18	0	1	0
chr20	62312527	62312527	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon68:c.G9233A:p.R3078Q	.	418	1101	3	0	0	3	0.00136054	.	.	YES	2103469	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.152	0.0457196826803	0.0002	.	0.0004	0	0.0019	0	0	0.0004	0.0013	6.484e-05	0.000304	47	154602	rs144323773	0.0005	0.0005	0.0005	0.0005	0.0009	0.0005	0.0005	0.0006	0.0006	2.989e-05	0.0009	0	0	0	0.0003	0.0006	0.0006	0.0002	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	9.622e-05	0	0.0004	0	0	0	0	0.0003	0.0005	0.0006	0.035	0.43708	D	0.127	0.35082	T	0.068	0.23728	B	0.009	0.14300	B	0.209884	0.16391	N	0.606409	1	0.08975	N	1.585	0.39878	L	-1.17	0.78199	T	-1.48	0.36189	N	0.147	0.14905	-0.8684	0.50650	T	0.244	0.61272	T	10	0.031110734	0.01243	T	0.04572	0.62114	D	0.152	0.39956	.	.	0.511191291104	0.50759	0.30437492269285527	0.30350	.	.	0.280768305063	0.07600	T	0.131421	0.46090	T	-0.356298	0.04343	T	-0.39554	0.33903	T	0.0115965405389462	0.00176	T	0.714029	0.32612	T	0.06012361	0.12302	0.06204132	0.12076	0.06012361	0.12301	0.06204132	0.12075	-7.136	0.55020	T	.	.	0.062	0.01367	B	.	.	0.861405	0.12337	8.878	0.97329165330942813	0.33413	0.03659	0.08916	N	AEFDGBCI	0.067184	0.13194	N	-1.16057667527633	0.05608	0.2561006	-1.23557571033779	0.05348	0.2545924	0.999842002448578	0.43971	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.36	-1.44	0.08391	-0.321000	0.08060	-5.727000	0.01616	-0.321000	0.05860	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2171:0.267:0.0:0.516	5.105	0.14111	774	0.48577	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1438.33	136	chr20	62312527	.	C	T	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=981;ExcessHet=0;FS=4.146;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.126;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,56:136:99:1|0:62312525_G_A:1452,0,3129:62312525	18	0	1	0
chr22	32475133	32475133	G	A	intronic	FBXO7	.	.	.	Parkinson disease 15, autosomal recessive, Autosomal recessive	4	1514	4	0	0	4	0.00131926	.	.	.	347519	Parkinsonian-pyramidal_syndrome|not_specified|not_provided	MONDO:MONDO:0009830,MedGen:C1850100,OMIM:260300,Orphanet:171695|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0032	0.00119808	0.0023	0.0036	0	0	0	0.0056	0	0.0005	0.0012936	200	154602	rs192327462	0.0056	0.0054	0.0058	0.0055	0.0069	0.0055	0.0055	0.0067	0.0067	0.0009	0.0008	0.0019	0	0.0019	0.0018	0.0069	0.0035	0.0005	0.0039	0.0039	0.0043	0.0035	0.0071	0.0037	0.0036	0.0065	0.0063	0.0014	0.0110	0.0019	0.0012	0	0.0010	0.0034	0.0071	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	788.33	57	chr22	32475133	.	G	A	788.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.815;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=1.46;SOR=0.622	GT:AD:DP:GQ:PL	0/1:25,32:57:99:802,0,554	18	0	1	0
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E	.	425	173	454	470	0	1394	0.801149	.	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.568983	0.565657	0.542120	0.570175	0.550000	0.517241	0.573171	0.662879	0.5526	42702.2	207	chr22	43946236	.	A	G	42702.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-1.131;DP=2664;ExcessHet=3.6106;FS=0;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=60;MQRankSum=0;QD=17.34;ReadPosRankSum=-0.233;SOR=0.682	GT:AD:DP:GQ:PL	1/1:0,207:207:99:6155,619,0	3	5	11	0
chrX	74741253	74741253	C	T	exonic	NEXMIF	.	nonsynonymous SNV	NEXMIF:NM_001008537:exon3:c.G3304A:p.V1102I	.	2	1499	16	5	0	26	0.00859788	.	.	.	959347	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.052	0.0968984578157	.	.	1.141e-05	0	0	0	0	2.085e-05	0	0	6.5e-06	1	154602	rs750439376	8.198e-06	8.195e-06	1.361e-06	2.203e-05	0.0005	3.86e-06	2.79e-06	8.516e-05	3.547e-05	0	0	0	0	0	0.0005	3.564e-06	6.51e-05	1.847e-05	0	8.706e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.312	0.13925	T	0.531	0.10069	T	0.001	0.07471	B	0.002	0.06944	B	0.245799	0.15614	N	0.653642	1	0.08975	N	.	.	.	1.51	0.30937	T	-0.69	0.19720	N	0.042	0.01498	-1.0406	0.17132	T	0.029	0.12629	T	10	0.046794057	0.03915	T	0.096898	0.76681	D	0.052	0.14661	0.086	0.00867	0.0934897674506	0.08844	0.06909784548585353	0.06847	0.180718933833	0.20323	0.299122810364	0.10271	T	0.03717	0.24375	T	-0.504728	0.00538	T	-0.962783	0.00224	T	0.0258973432837033	0.01391	T	0.59614	0.22137	T	0.039831918	0.05573	0.046645377	0.06548	0.039831918	0.05573	0.046645377	0.06548	-3.021	0.10409	T	.	.	0.070	0.03964	B	.;.;.	.;.;.	0.447504	0.08175	4.911	0.59955260094508367	0.06347	0.07388	0.13408	N	AEFGBI	.	.	.	.	.	.	.	.	.	4.28687679559605E-4	0.06935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	-0.389	0.11835	0.231000	0.17651	-0.240000	0.10600	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.413000	0.27073	0.2127:0.292:0.1883:0.3071	0.461	0.00482	103	0.95740	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2172.33	150	chrX	74741253	.	C	T	2172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.412;DP=783;ExcessHet=0;FS=2.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.521;SOR=0.881	GT:AD:DP:GQ:PL	0/1:68,82:150:99:2186,0,1636	18	0	1	0
chrX	78125810	78125810	G	A	exonic	PGK1	.	nonsynonymous SNV	PGK1:NM_000291:exon11:c.G1234A:p.D412N	Phosphoglycerate kinase 1 deficiency, X-linked recessive	1	1518	1	2	0	5	0.0016442	.	.	.	486498	Glycogen_storage_disease_due_to_phosphoglycerate_kinase_1_deficiency|not_provided	MONDO:MONDO:0010392,MedGen:C1970848,OMIM:300653,Orphanet:713|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.337	0.0399164136543	.	.	4.558e-05	0	0	0	0	8.334e-05	0	0	3.23e-05	5	154602	rs782165735	9.726e-05	9.837e-05	9.535e-05	0.0001	0.0012	8.2e-05	7.643e-05	0.0005	0.0003	0	0	0	0	0	0.0012	0.0001	0.0002	5.561e-05	6.255e-05	6.093e-05	7.709e-05	2.935e-05	0.0001	2.895e-05	2.067e-05	6.153e-05	4.301e-05	0	0	0	0	0	0	0	0.0001	0	0	0.182	0.21801	T	0.087	0.40747	T	0.001	0.07471	B	0.002	0.06944	B	0.000029	0.55875	D	0.153249	0.999823	0.49512	D	1.355	0.33814	L	-2.96	0.91956	D	-1.07	0.27876	N	0.106	0.09066	0.267	0.87023	D	0.712	0.90108	D	10	0.36939877	0.53356	T	0.039916	0.59082	D	0.337	0.65913	.	.	0.840393522238	0.83886	0.7540829808935435	0.75355	0.105795419672	0.11961	0.555442631245	0.46625	T	0.435126	0.78197	T	-0.234651	0.16038	T	-0.369331	0.36967	T	0.205127047258359	0.20696	T	0.90081	0.65538	D	0.6736339	0.76627	0.6063672	0.77115	0.6736339	0.76629	0.6063672	0.77116	-5.085	0.37748	T	0.22366520535468068	0.30196	0.161	0.35519	B	.;.	.;.	3.233290	0.44108	21.9	0.99587785720735911	0.73395	0.97921	0.78139	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999998851	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	5.19	0.71428	7.178000	0.77202	9.707000	0.81321	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.950	0.86114	399	0.82780	.;.	.	.	.	.	.	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	0.002379	0.000000	0.000000	0.000000	0.000000	0.000000	0.015464	0.000000	0.02632	1347.33	114	chrX	78125810	.	G	A	1347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.925;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-1.675;SOR=0.636	GT:AD:DP:GQ:PL	0/1:58,56:114:99:1361,0,1403	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	385.22	51	chrX	133704277	.	GA	G	385.22	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.026;DP=1160;ExcessHet=6.9875;FS=0.757;InbreedingCoeff=-0.3385;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.333;SOR=0.594	GT:AD:DP:GQ:PL	0/1:41,7:51:64:64,0,927	9	0	10	0