Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES969	WT	HH	HZ	NC
chr1	11045485	11045485	C	T	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon4:c.G467A:p.C156Y	MASP2 deficiency, Autosomal recessive	.	0	1508	14	0	0	14	0.00462046	.	.	275880	not_provided|Immunodeficiency_due_to_MASP-2_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.63	H	-5.76	D	0.781	D	0.985	D	0.964	4.511	24.3	4.22	2.048	7.595	15.710	0.982	0.617876174787	0.0075	0.00319489	0.0066	0.0020	0.0009	0	0.0030	0.0091	0.0094	0.0078	0.0063971	989	154602	rs41307788	0.0084	0.0084	0.0084	0.0084	0.0096	0.0083	0.0082	0.0095	0.0094	0.0013	0.0016	0.0052	5.038e-05	0.0036	0.0024	0.0096	0.0084	0.0071	0.0056	0.0056	0.0062	0.0049	0.0092	0.0053	0.0051	0.0086	0.0083	0.0020	0.0285	0.0016	0.0072	0	0.0029	0.0034	0.0092	0.0028	0.0054	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.395	0.98631	H	-5.76	0.99330	D	-10.46	0.99308	D	0.939	0.94550	0.781	0.94182	D	0.985	0.99538	D	10	0.06558162	0.08870	T	0.617876	0.96683	D	0.982	0.99890	.	.	0.953262336798	0.95276	0.8897999682880618	0.88949	0.334673750531	0.35479	0.706235647202	0.68048	T	0.484895	0.81202	T	0.23001	0.76722	D	0.568005	0.96196	D	0.116441120712496	0.14078	T	0.852615	0.79230	D	0.9833007	0.99351	0.98401016	0.99907	0.9784052	0.98985	0.9805422	0.99833	-12.261	0.86098	D	.	.	0.956	0.90609	P	.;.	.;.	4.858918	0.79490	27.1	0.9973246173666489	0.82904	0.98136	0.79906	D	AEFDBI	0.957603	0.97689	D	0.968969080821103	0.94707	12.97358	0.81460923233621	0.90789	10.57003	0.999999999999017	0.74766	0.495158	0.18159	0	0.573888	0.26702	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.22	4.22	0.49153	7.791000	0.84392	5.917000	0.51107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	15.710	0.77376	799	0.44747	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	733.98	36	chr1	11045485	.	C	T	733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.103e+00;DP=771;ExcessHet=0.0000;FS=6.493;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=0.057;SOR=0.863	GT:AD:DP:GQ:PL	0/1:36,31:67:99:748,0,1023	20	0	1	0
chr1	28993501	28993501	G	A	exonic	EPB41	.	nonsynonymous SNV	EPB41:NM_001166005:exon3:c.G640A:p.V214I	Elliptocytosis-1	.	1	1410	100	11	0	122	0.0414684	.	.	799215	Elliptocytosis_1|not_provided	MONDO:MONDO:0012731,MedGen:C2678497,OMIM:611804,Orphanet:288|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.896	P	0.87	P	0.008	N	1.000	D	1.735	L	-1.0	T	-0.313	T	0.245	T	0.16	3.293	17.06	4.31	1.189	4.671	12.426	0.173	.	0.0378	0.0155751	0.0341	0.0076	0.0296	0.0001	0.0198	0.0498	0.0441	0.0133	0.0342492	5295	154602	rs111642750	0.0437	0.0438	0.0443	0.0432	0.0634	0.0435	0.0433	0.0580	0.0559	0.0070	0.0330	0.0611	5.041e-05	0.0240	0.0634	0.0498	0.0411	0.0136	0.0326	0.0327	0.0347	0.0305	0.0477	0.0319	0.0315	0.0464	0.0458	0.0084	0.0910	0.0440	0.0640	0	0.0217	0.0748	0.0477	0.0445	0.0096	0.139	0.43708	T	0.061	0.54159	T	0.009	0.49324	B	0.015	0.61806	B	0.008382	0.30866	N	0.335198	0.999994	0.58761	D	1.78	0.46185	L	-1.82	0.84047	D	-0.9	0.24244	N	0.17	0.25499	-0.3128	0.74626	T	0.245	0.61366	T	9	0.003148526	0.00053	T	.	.	.	0.173	0.43840	.	.	.	.	0.28088630267637577	0.28001	0.166873589523	0.18820	0.43623867631	0.30063	T	0.303499	0.67585	T	-0.34415	0.05105	T	-0.230618	0.51713	T	0.0158378503849092	0.00371	T	0.849315	0.65919	T	0.1558718	0.35205	0.101065055	0.24184	0.15956618	0.35836	0.101065055	0.24183	-6.826	0.53122	T	.	.	0.096	0.22789	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.104588	0.41856	21.4	0.99354740134365238	0.60738	0.90177	0.51150	D	AEFDBHCI	0.457931	0.50917	N	0.00512974626220698	0.42089	2.52939	0.1284128546935	0.46008	2.854032	0.999054950204163	0.38317	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.22	4.31	0.50718	4.421000	0.59598	3.077000	0.36224	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0807:0.0:0.9193:0.0	12.426	0.54884	453	0.79178	.;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;.;.;.;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain;.;FERM, N-terminal|FERM domain|Band 4.1 domain;.;FERM, N-terminal|FERM domain|Band 4.1 domain;FERM, N-terminal|FERM domain|Band 4.1 domain	.	.	.	.	rs111642750	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2969.68	38	chr1	28993501	.	G	A	2969.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.279;DP=884;ExcessHet=0.3300;FS=2.138;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.305;SOR=0.859	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1071,0,1177	18	0	3	0
chr1	34785102	34785102	G	A	exonic	GJB3	.	nonsynonymous SNV	GJB3:NM_001005752:exon2:c.G340A:p.A114T	Deafness, autosomal dominant 2B, Autosomal dominant;Deafness, autosomal dominant, with peripheral neuropathy (3);Deafness, autosomal recessive (3);Deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	55248	not_provided|not_specified|Erythrokeratodermia_variabilis_et_progressiva_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0033010,MedGen:C4551486,OMIM:133200,Orphanet:317	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.002	B	0.001	B	0.405	N	0.985	N	1.78	L	-4.55	D	0.024	D	0.791	D	0.046	0.187	5.009	-3.6	-0.952	0.740	0.371	0.243	0.0567662640167	.	0.000798722	0.0003	9.651e-05	0	0.0001	0	0.0001	0.0011	0.0013	0.0002264	35	154602	rs199689484	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	2.987e-05	2.236e-05	0.0015	0.0001	0	0.0002	5.935e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	8.714e-05	0.0008	0.0006	4.811e-05	0	0	0.0006	0	0	0.0034	0.0001	0	0.0017	0.632	0.05121	T	0.429	0.13752	T	0.002	0.09854	B	0.001	0.04355	B	0.404709	0.13077	N	0.679982	0.999975	0.18612	N	0.445	0.12748	N	-4.55	0.97753	D	-0.07	0.08033	N	0.039	0.01274	0.024	0.82741	D	0.791	0.92928	D	10	0.012672514	0.00271	T	0.056766	0.66723	D	0.243	0.54921	.	.	0.701431529907	0.69884	0.6127885868310406	0.61210	0.0631666422349	0.07030	0.314917594194	0.12651	T	0.435373	0.78213	T	-0.391963	0.02613	T	-0.376338	0.36149	T	0.0130941924501172	0.00230	T	0.0233977	0.00138	T	0.051568218	0.09489	0.06283622	0.12354	0.05738788	0.11414	0.06545711	0.13270	-4.301	0.28191	T	0.08538512769925853	0.04811	0.067	0.02609	B	.;.	.;.	0.186409	0.05734	2.176	0.91083555304345765	0.20336	0.18104	0.20121	N	AEFDGBHCI	0.187158	0.31445	N	-1.41768326810932	0.02483	0.1097264	-1.42219957742226	0.03031	0.1406112	0.999999987815902	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.49644	0.08281	0	0.542086	0.14980	0	.	.	5.84	-3.6	0.04277	0.674000	0.24897	-3.656000	0.02627	-1.588000	0.00909	0.307000	0.25387	0.000000	0.08366	0.110000	0.18741	0.293:0.2139:0.2699:0.2232	0.371	0.00353	904	0.23766	Connexin, N-terminal;Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2309.98	33	chr1	34785102	.	G	A	2309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=943;ExcessHet=0.0000;FS=3.143;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=0.080;SOR=0.946	GT:AD:DP:GQ:PL	0/1:120,91:211:99:2324,0,2993	20	0	1	0
chr1	37708312	37708314	TTC	-	intronic	CDCA8	.	.	.	.	.	430	656	353	83	0	519	0.283452	.	.	1310279	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2158	0.364217	0.2783	0.2577	0.4416	0.7111	0.2264	0.1916	0.2695	0.3211	0.0001537	4	26028	rs145033890	0.2126	0.2132	0.2108	0.2144	0.6712	0.2120	0.2117	0.6645	0.6617	0.2510	0.4088	0.2738	0.6712	0.2205	0.2368	0.1761	0.2370	0.3125	0.2412	0.2420	0.2349	0.2479	0.6862	0.2391	0.2383	0.6673	0.6596	0.2534	0.1154	0.3139	0.2784	0.6862	0.2248	0.2021	0.1800	0.2481	0.3272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	34786.27	34	chr1	37708311	.	TTTC	T	34786.27	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-1.170e-01;DP=2206;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=19.29;ReadPosRankSum=0.285;SOR=0.689	GT:AD:DP:GQ:PL	0/1:81,91:172:99:3547,0,3080	10	0	11	0
chr1	42750280	42750280	C	T	exonic	P3H1	.	synonymous SNV	P3H1:NM_001146289:exon11:c.G1626A:p.T542T	Osteogenesis imperfecta, type VIII, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	447903	Osteogenesis_Imperfecta,_Recessive|Osteogenesis_imperfecta_type_8|not_provided|Osteogenesis_imperfecta	MedGen:CN239451|MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0030	0.0004	0.0009	0	0	4.575e-05	0.0023	0.0213	0.0026132	404	154602	rs577059613	0.0013	0.0013	0.0008	0.0018	0.0199	0.0012	0.0012	0.0192	0.0188	0.0003	0.0007	0	2.519e-05	0	0.0012	2.518e-05	0.0014	0.0199	0.0008	0.0008	0.0005	0.0011	0.0228	0.0007	0.0006	0.0193	0.0180	0.0001	0	0.0001	0	0	0	0	2.94e-05	0	0.0228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1181.98	34	chr1	42750280	.	C	T	1181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-02;DP=815;ExcessHet=0.0000;FS=1.478;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=0.560;SOR=0.597	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1196,0,1525	20	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	Cardiovascular_phenotype|Familial_hypercholesterolemia|not_provided|Hypobetalipoproteinemia|Hypercholesterolemia,_familial,_1|not_specified|Hypercholesterolemia,_autosomal_dominant,_3	MedGen:CN230736|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	1.0	116023.81	140	chr1	55057360	.	A	G	116023.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.17;DP=3833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=31.18;ReadPosRankSum=0.146;SOR=0.726	GT:AD:DP:GQ:PL	1/1:0,187:187:99:5807,561,0	0	21	0	0
chr1	97883329	97883329	A	G	exonic	DPYD	.	nonsynonymous SNV	DPYD:NM_000110:exon2:c.T85C:p.C29R	Dihydropyrimidine dehydrogenase deficiency, Autosomal recessive;5-fluorouracil toxicity, Autosomal recessive	.	20	895	480	127	0	734	0.290808	.	.	15474	not_specified|not_provided|fluorouracil_response_-_Toxicity|capecitabine_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency	MedGen:CN169374|MedGen:C3661900|.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:1675	reviewed_by_expert_panel	drug_response	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062677	969	154602	rs1801265	0.2213	0.2213	0.2203	0.2223	0.4125	0.2207	0.2204	0.4068	0.4044	0.4125	0.2142	0.1152	0.0516	0.2878	0.2345	0.2186	0.2229	0.2528	0.2736	0.2738	0.2743	0.2728	0.4040	0.2714	0.2704	0.3989	0.3968	0.4040	0.2204	0.2476	0.1107	0.0719	0.2823	0.2211	0.2254	0.2540	0.2470	.	.	.	0.427	0.13832	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.19325	.	.	.	.	.	.	.	0.0027006269	0.00042	T	.	.	.	.	.	.	.	.	.	0.6104852986908456	0.60980	.	.	.	.	.	0.058699	0.30914	T	.	.	.	.	.	.	.	.	.	0.0231377	0.00135	T	.	.	.	.	.	.	.	.	-5.598	0.42774	T	0.05041581781460596	0.00872	0.043	0.00109	B	.;.	.;.	2.033307	0.25845	16.91	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.647000	0.36876	2.715000	0.34266	-0.103000	0.15852	0.321000	0.25511	0.371000	0.24568	0.770000	0.36519	.	.	.	928	0.17405	.;.	DPYD|DPYD	Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0.2381	8750.78	67	chr1	97883329	.	A	G	8750.78	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.184;DP=1031;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=15.54;ReadPosRankSum=-7.200e-02;SOR=0.687	GT:AD:DP:GQ:PL	0/1:30,35:65:99:801,0,672	13	2	6	0
chr1	100206310	100206310	-	A	intronic	DBT	.	.	.	Maple syrup urine disease, type II, Autosomal recessive	.	0	104	85	27	10	149	0.400576	.	.	190799	not_provided|Maple_syrup_urine_disease	MedGen:C3661900|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226	0.0424	0.0181	0.0374	0.0145	0.0191	0.0287	0.0255	0.021261	3287	154602	rs566272048	0.0260	0.0567	0.0266	0.0253	0.0502	0.0257	0.0256	0.0479	0.0470	0.0502	0.0193	0.0291	0.0282	0.0179	0.0337	0.0260	0.0280	0.0217	0.0008	0.0011	0.0008	0.0008	0.0007	0.0007	0.0006	0.0005	0.0005	0.0006	0	0.0007	0.0047	0.0002	0.0010	0	0.0007	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	9643.85	33	chr1	100206310	.	T	A,TA	9643.85	.	AC=11,5;AF=0.262,0.119;AN=42;BaseQRankSum=-5.020e-01;DP=1443;ExcessHet=4.5793;FS=1.104;InbreedingCoeff=-0.1912;MLEAC=11,4;MLEAF=0.262,0.095;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=-5.090e-01;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,50,0:54:57:1|1:100206304_AT_A:1209,57,0,1221,149,1314:100206304	7	1	8	0
chr1	156881533	156881533	G	A	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon16:c.G2264A:p.R755Q	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	YES	0	1513	8	1	0	10	0.00329381	.	.	1540658	Hereditary_insensitivity_to_pain_with_anhidrosis|not_provided	MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.013	B	0.004	B	0.012	N	0.929	D	-0.035	N	-1.59	D	-0.952	T	0.135	T	0.372	2.609	14.68	4.11	1.312	0.352	6.933	0.210	0.00686803336614	.	0.000199681	0.0003	0.0002	0	0	0	3.608e-05	0	0.0013	0.0001488	23	154602	rs201891311	0.0001	0.0002	8.079e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0.0001	0	0	0	0	0.0009	2.709e-05	0.0002	0.0019	0.0001	0.0001	3.853e-05	0.0002	0.0027	8.16e-05	6.717e-05	0.0016	0.0013	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0027	0.228	0.18434	T	0.161	0.34359	T	0.0	0.07471	B	0.001	0.04355	B	0.012257	0.29238	N	0.238545	0.683508	0.36925	D	0.905	0.23240	L	-1.59	0.82076	D	-0.4	0.13805	N	0.202	0.22357	-0.9518	0.40660	T	0.135	0.44971	T	10	0.023714691	0.00629	T	0.006868	0.18177	T	0.210	0.50028	.	.	0.849743943647	0.84829	0.19415647910783967	0.19333	0.28510221178	0.30919	0.453783094883	0.32461	T	0.490972	0.81554	T	-0.31998	0.06898	T	-0.262484	0.48575	T	0.0603199895046071	0.07220	T	0.892211	0.62852	D	0.15947026	0.35821	0.076693565	0.17011	0.15947026	0.35821	0.076693565	0.17011	-6.509	0.51584	T	0.03449484710576937	0.00169	0.061	0.01179	B	.;.;.;.	.;.;.;.	2.901991	0.38468	20.7	0.9975512330473294	0.84615	0.69825	0.34342	D	AEFBI	0.221864	0.34643	N	-0.40528812998552	0.25284	1.371341	-0.195597362527002	0.31697	1.79633	0.767584462925001	0.23615	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.04	4.11	0.47350	0.095000	0.14966	4.774000	0.44793	0.676000	0.76740	0.934000	0.32416	1.000000	0.68203	0.998000	0.85391	0.2606:0.0:0.7394:0.0	6.933	0.23628	530	0.73653	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1041.98	33	chr1	156881533	.	G	A	1041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.965e+00;DP=796;ExcessHet=0.0000;FS=4.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=-5.600e-02;SOR=0.694	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1056,0,1496	20	0	1	0
chr1	158618068	158618068	G	A	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	YES	3	913	508	98	0	704	0.278261	0.0005	0.264	249428	Elliptocytosis_2|Pyropoikilocytosis,_hereditary|not_specified|not_provided|Hemolytic_anemia|Hereditary_spherocytosis_type_3	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2491	0.227835	0.2564	0.1998	0.1610	0.1912	0.3018	0.2874	0.2617	0.2473	0.255081	39436	154602	rs28525570	0.2712	0.2729	0.2704	0.2720	0.2797	0.2705	0.2702	0.2788	0.2785	0.1970	0.1760	0.3492	0.2025	0.2895	0.2419	0.2797	0.2632	0.2453	0.2538	0.2539	0.2524	0.2553	0.2882	0.2517	0.2508	0.2848	0.2834	0.1983	0.2286	0.2184	0.3417	0.1855	0.3091	0.3265	0.2882	0.2640	0.2447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16533.11	113	chr1	158618068	.	G	A	16533.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.748;DP=1490;ExcessHet=1.3217;FS=0.000;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.52;ReadPosRankSum=0.297;SOR=0.671	GT:AD:DP:GQ:PL	0/1:49,41:90:99:1093,0,1263	10	2	9	0
chr1	158627717	158627717	G	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon40:c.C5572G:p.L1858V,	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	YES	5	902	520	95	0	710	0.282418	.	.	249434	Elliptocytosis_2|Pyropoikilocytosis,_hereditary|not_specified|Hemolytic_anemia|Hereditary_spherocytosis_type_3|not_provided	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.05	D	0.601	P	0.395	B	0.296	N	0.032	P	2.3	M	0.82	T	-1.004	T	0.100	T	0.16	2.108	13.00	2.68	0.451	2.457	10.249	0.176	.	0.2495	0.227835	0.2567	0.2000	0.1610	0.1910	0.3021	0.2878	0.2617	0.2475	0.255042	39430	154602	rs3737515	0.2731	0.2734	0.2725	0.2737	0.2819	0.2723	0.2721	0.2810	0.2807	0.1983	0.1760	0.3506	0.2028	0.2894	0.2433	0.2819	0.2648	0.2460	0.2536	0.2539	0.2523	0.2550	0.2882	0.2515	0.2506	0.2848	0.2834	0.1981	0.2286	0.2176	0.3430	0.1851	0.3087	0.3207	0.2882	0.2621	0.2442	0.009	0.57480	D	0.019	0.59159	D	0.601	0.39346	P	0.395	0.44317	B	0.295829	0.14686	N	0.398187	0.0322052	0.38617	P	2.66	0.77858	M	0.82	0.48142	T	-2.39	0.52612	N	0.242	0.27316	-1.0044	0.28636	T	0.100	0.37162	T	9	0.0018082857	0.00024	T	.	.	.	0.176	0.44373	.	.	.	.	0.10204742782828059	0.10134	0.151848470416	0.17138	0.413743078709	0.26975	T	0.398082	0.75628	T	-0.578861	0.00196	T	-0.46045	0.26549	T	0.0265270473936109	0.01477	T	0.989945	0.96848	D	0.47455317	0.65569	0.45098418	0.68054	0.5292539	0.68789	0.3938572	0.64094	-7.424	0.57073	T	0.4696991537525536	0.55038	0.119	0.24430	B	.;.	.;.	2.721452	0.35600	19.94	0.99057226967889789	0.51390	0.97183	0.73178	D	AEFBI	0.628036	0.61027	D	-0.0876209270705267	0.37935	2.214285	-0.10368608914381	0.35242	2.036537	0.00115487049960551	0.08283	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.55	2.68	0.30839	2.724000	0.46956	1.029000	0.23465	-0.106000	0.15538	1.000000	0.71638	0.238000	0.23831	0.191000	0.21631	0.2184:0.0:0.7816:0.0	10.249	0.42538	645	0.63593	.;.	CD1B	Whole_Blood	SPTA1|SPTA1	Testis|Whole_Blood	rs3737515	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.3095	21434.11	139	chr1	158627717	.	G	C	21434.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-1.463e+00;DP=1772;ExcessHet=1.3217;FS=0.539;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.66;ReadPosRankSum=-2.220e-01;SOR=0.753	GT:AD:DP:GQ:PL	0/1:42,61:103:99:1499,0,1000	10	2	9	0
chr1	158668076	158668078	AAA	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	276726	Pyropoikilocytosis,_hereditary|Elliptocytosis|not_provided|Spherocytosis,_Recessive	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480|MedGen:CN517202|MedGen:CN239472	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261382	0.2751	0.1818	0.3209	0.3391	0.3421	0.2907	0.2962	0.1744	0.0001537	4	26028	rs140998442	0.2835	0.2762	0.2874	0.2795	0.3211	0.2827	0.2824	0.3164	0.3145	0.1824	0.3211	0.3004	0.3201	0.3428	0.3048	0.2886	0.2864	0.1756	0.3122	0.3051	0.3058	0.3190	0.4553	0.3097	0.3087	0.4394	0.4329	0.1942	0.4510	0.3960	0.3610	0.4553	0.4283	0.3444	0.3419	0.3398	0.2111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	15062.3	68	chr1	158668075	.	GAAA	GAA,GAAAA,G,GA	15062.3	.	AC=14,3,7,2;AF=0.333,0.071,0.167,0.048;AN=42;BaseQRankSum=-2.100e-02;DP=1517;ExcessHet=20.9642;FS=1.232;InbreedingCoeff=-0.6153;MLEAC=14,3,7,2;MLEAF=0.333,0.071,0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.409;SOR=0.800	GT:AD:DP:GQ:PL	0/3:11,3,3,31,2:57:99:1322,1099,1311,1313,1286,1598,0,239,212,494,1231,1326,1480,469,1796	0	0	10	0
chr1	168015904	168015904	C	G	exonic	DCAF6	.	nonsynonymous SNV	DCAF6:NM_001198957:exon10:c.C1409G:p.S470C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.994	D	0.847	P	0.237	N	0.999	N	.	.	0.29	T	0.199	D	0.577	D	0.221	3.162	16.58	5.08	2.519	4.745	17.034	0.193	0.0663868663574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.44e-06	2.052e-06	1.421e-06	1.46e-06	1.862e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.112	0.37173	T	0.994	0.66517	D	0.847	0.60522	P	0.236653	0.15803	N	0.620832	1	0.81001	D	.	.	.	0.29	0.80815	T	-1.44	0.35399	N	0.281	0.35727	0.199	0.85883	D	0.577	0.84742	D	8	0.25384134	0.42756	T	0.066387	0.69859	D	0.193	0.47281	0.186	0.09517	0.318725805183	0.31479	0.45603550426071676	0.45521	1.11834878413	0.78224	0.462630063295	0.33671	T	.	.	.	-0.0088661	0.50424	T	-0.250512	0.49767	T	0.942026853561401	0.61582	D	0.763824	0.39073	T	.	.	.	.	.	.	.	.	-8.932	0.67916	D	.	.	0.109	0.20857	B	.;.	.;.	4.508036	0.70568	25.5	0.97924715765615511	0.36914	0.94814	0.62421	D	AEFGBI	0.405733	0.47850	N	0.460621722958569	0.64807	4.743889	0.430190990811594	0.63454	4.579517	0.999368695473563	0.39301	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	4.790000	0.62146	3.481000	0.38649	0.596000	0.33519	1.000000	0.71638	0.122000	0.22912	0.998000	0.85391	0.0:1.0:0.0:0.0	17.034	0.86344	534	0.73357	.;.	.	.	.	.	.	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	0.02381	1197.98	33	chr1	168015904	.	C	G	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.786;DP=801;ExcessHet=0.0000;FS=3.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=1.03;SOR=0.386	GT:AD:DP:GQ:PL	0/1:61,45:106:99:1212,0,1688	20	0	1	0
chr1	168293284	168293284	-	GT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278103	not_provided|Congenital_isolated_adrenocorticotropic_hormone_deficiency	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0901	0.0583	0.0571	0.1111	0.0285	0.0764	0.1111	0.1608	0.0101813	265	26028	rs746838916	0.1940	0.2229	0.1966	0.1915	0.3563	0.1933	0.1931	0.3505	0.3481	0.0679	0.2628	0.2257	0.3563	0.2032	0.2132	0.1918	0.2017	0.1427	0.3472	0.3539	0.3502	0.3440	0.6153	0.3444	0.3432	0.5953	0.5872	0.1764	0.4207	0.4130	0.4226	0.6153	0.3414	0.3519	0.3888	0.3596	0.3282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,11,0,0:55:99:.:.:134,0,1446,267,1479,1746,267,1479,1746,1746	3	0	13	0
chr1	168293284	168293284	-	GTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	278196	Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_provided	Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0333	0.0427	0.0224	0.0212	0.0098	0.0195	0.0439	0.0785	0.003842	100	26028	rs746838916	0.0596	0.0819	0.0593	0.0600	0.1098	0.0593	0.0591	0.1069	0.1057	0.0570	0.1098	0.0482	0.0845	0.0707	0.0885	0.0555	0.0629	0.0722	0.1451	0.1522	0.1446	0.1456	0.1848	0.1432	0.1425	0.1784	0.1758	0.1799	0.1222	0.1848	0.0991	0.1600	0.1397	0.1396	0.1219	0.1484	0.1679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,11,0,0:55:99:.:.:134,0,1446,267,1479,1746,267,1479,1746,1746	3	0	13	0
chr1	168293284	168293284	-	GTGTGT	intronic	TBX19	.	.	.	Adrenocorticotropic hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277080	Congenital_isolated_adrenocorticotropic_hormone_deficiency|not_provided	Human_Phenotype_Ontology:HP:0011748,MONDO:MONDO:0008720,MedGen:C0342388,OMIM:201400,Orphanet:199296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.0069	0.0016	0.0024	0	0.0029	0	0.0130	0.0005763	15	26028	rs746838916	0.0078	0.0121	0.0077	0.0078	0.0172	0.0076	0.0076	0.0141	0.0130	0.0092	0.0144	0.0060	0.0111	0.0017	0.0172	0.0073	0.0088	0.0108	0.0215	0.0223	0.0222	0.0208	0.0336	0.0208	0.0206	0.0318	0.0311	0.0336	0.0423	0.0224	0.0189	0.0191	0.0032	0.0270	0.0178	0.0223	0.0266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	6820.95	34	chr1	168293284	.	A	AGT,AGTGT,AGTGTGT	6820.95	.	AC=15,4,1;AF=0.357,0.095,0.024;AN=42;BaseQRankSum=-6.870e-01;DP=1696;ExcessHet=15.5231;FS=14.608;InbreedingCoeff=-0.5272;MLEAC=15,4,1;MLEAF=0.357,0.095,0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=1.67;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,11,0,0:55:99:.:.:134,0,1446,267,1479,1746,267,1479,1746,1746	3	0	13	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	YES	467	200	364	491	0	1346	0.770905	1.0000	0.918	249563	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified|not_provided	MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	1.765	11.86	5.26	2.598	4.200	14.730	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	32697.54	93	chr1	179889309	.	G	A	32697.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=0.720;DP=1629;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=21.37;ReadPosRankSum=0.266;SOR=0.619	GT:AD:DP:GQ:PL	0/1:42,25:67:99:613,0,1064	2	11	8	0
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	YES	207	250	453	612	0	1677	0.770326	.	.	278205	Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Age_related_macular_degeneration_4|Atypical_hemolytic-uremic_syndrome	MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	P	.	.	-0.03	T	-1.007	T	0.000	T	0.041	-2.252	0.004	-9.09	-4.010	-6.715	2.071	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	1	0	1	0	0.6429	62931.18	182	chr1	196690107	.	C	T	62931.18	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.049;DP=3170;ExcessHet=3.1640;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=27;MLEAF=0.643;MQ=59.99;MQRankSum=0.00;QD=20.84;ReadPosRankSum=-4.090e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:93,96:189:99:2493,0,2442	2	8	11	0
chr1	196743447	196743447	T	C	intronic	CFH	.	.	.	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	.	2	810	709	1	0	711	0.305019	0	0.028	865078	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_specified|Basal_laminar_drusen|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|not_provided	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:CN169374|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN071292|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2585	0.2335	0.3236	0.3530	0.2551	0.2478	0.2636	0.2241	0.0001035	16	154602	rs513699	0.0899	0.2501	0.0919	0.0878	0.1935	0.0893	0.0891	0.1884	0.1864	0.0730	0.1344	0.0955	0.1935	0.1086	0.0549	0.0875	0.0860	0.0598	0.0293	0.1436	0.0285	0.0300	0.0485	0.0284	0.0280	0.0448	0.0434	0.0296	0.0038	0.0485	0.0263	0.0478	0.0280	0.0084	0.0251	0.0321	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	17455.3	34	chr1	196743447	.	T	C	17455.3	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.46;DP=3012;ExcessHet=7.7275;FS=8.647;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=57.29;MQRankSum=-1.539e+01;QD=6.59;ReadPosRankSum=-2.514e+00;SOR=1.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,44:245:99:0|1:196743447_T_C:1243,0,8221:196743447	10	0	11	0
chr1	203223232	203223232	C	A	exonic	CHIT1	.	nonsynonymous SNV	CHIT1:NM_001256125:exon5:c.G451T:p.A151S	.	.	425	1095	2	0	0	2	0.000912409	.	.	279924	Chitotriosidase_deficiency	MedGen:C3279902,OMIM:614122	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.097	B	0.285	B	0.036	N	0.591	N	1.155	L	1.29	T	-0.983	T	0.059	T	0.262	0.913	8.715	2.65	0.990	4.008	7.842	0.036	0.017145532011	.	0.00199681	0.0007	0	0	0.0095	0	0	0	0.0002	0.0006339	98	154602	rs151004649	0.0004	0.0004	0.0004	0.0004	0.0146	0.0004	0.0004	0.0136	0.0132	0	0	0	0.0146	0	0	3.597e-06	0.0002	0.0002	0.0004	0.0004	0.0003	0.0005	0.0102	0.0003	0.0003	0.0080	0.0072	0	0	6.533e-05	0	0.0102	0	0	0	0	0.0010	0.208	0.19854	T	0.177	0.32040	T	0.097	0.25541	B	0.285	0.40506	B	0.035523	0.24632	N	0.279873	0.59063	0.31023	N	0.835	0.21042	L	1.29	0.35775	T	-1.72	0.40850	N	0.154	0.20395	-0.9831	0.34281	T	0.059	0.24575	T	10	0.0033851266	0.00059	T	0.017146	0.38730	T	0.036	0.09122	.	.	0.420939154896	0.41709	0.4104948860850389	0.40965	0.224371449795	0.24973	0.469472110271	0.34608	T	0.246519	0.61601	T	-0.503954	0.00543	T	-0.488852	0.23510	T	0.0749715595489156	0.09332	T	0.277372	0.08297	T	0.3089928	0.53699	0.15418449	0.36198	0.3089928	0.53699	0.15418449	0.36197	-6.195	0.48309	T	.	.	0.084	0.09772	B	.;.	.;.	2.483923	0.32036	18.92	0.96190254457615754	0.28988	0.90766	0.52220	D	AEFBI	0.283644	0.39670	N	-0.262561905302195	0.30605	1.708067	-0.20177382590587	0.31473	1.781471	0.998543758489956	0.37167	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.62	2.65	0.30588	3.324000	0.51734	1.180000	0.24688	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.395000	0.26670	0.1646:0.742:0.0:0.0934	7.842	0.28567	878	0.29785	Glycoside hydrolase family 18, catalytic domain|Chitinase II;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1195.98	42	chr1	203223232	.	C	A	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.607e+00;DP=830;ExcessHet=0.0000;FS=0.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=1.19;SOR=0.604	GT:AD:DP:GQ:PL	0/1:60,52:112:99:1210,0,1739	20	0	1	0
chr1	210094549	210094551	GAA	-	exonic	SYT14	.	nonframeshift deletion	SYT14:NM_001146262:exon5:c.670_672del:p.E225del	Spinocerebellar ataxia, autosomal recessive 11, Autosomal recessive	.	0	1200	287	35	0	357	0.129489	.	.	206755	not_provided|not_specified|Autosomal_recessive_spinocerebellar_ataxia_11	MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0013645,MedGen:C5190803,OMIM:614229,Orphanet:284271	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.0796725	0.1181	0.0239	0.0504	0.0786	0.2129	0.1395	0.1186	0.1194	0.0182112	474	26028	rs1188666462	0.1323	0.1324	0.1321	0.1326	0.1391	0.1319	0.1316	0.1385	0.1382	0.0202	0.0601	0.0707	0.1022	0.2138	0.0961	0.1391	0.1184	0.1212	0.1023	0.1027	0.0981	0.1068	0.1369	0.1010	0.1004	0.1346	0.1336	0.0247	0.1685	0.0763	0.0714	0.0866	0.2251	0.0952	0.1369	0.0900	0.1295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7529.62	36	chr1	210094548	.	TGAA	T	7529.62	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.210e-01;DP=925;ExcessHet=0.0000;FS=2.542;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=1.09;SOR=0.904	GT:AD:DP:GQ:PL	0/1:67,60:127:99:2318,0,2571	19	1	1	0
chr1	212897349	212897349	-	ACAC	UTR3	FLVCR1	NM_014053:c.*2059_*2060insACAC	.	.	Ataxia, posterior column, with retinitis pigmentosa, Autosomal recessive	.	1218	248	11	45	0	101	0.169179	.	.	280300	Posterior_column_ataxia-retinitis_pigmentosa_syndrome	MONDO:MONDO:0012177,MedGen:C1836916,OMIM:609033,Orphanet:88628	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255591	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs139242973	0.0139	0.0084	0	0.0167	0.0152	0	0	.	.	0	.	.	.	.	.	0.0152	0	.	0.2052	0.2032	0.2026	0.2080	0.3738	0.2033	0.2025	0.3656	0.3622	0.1629	0.3634	0.3738	0.3073	0.3457	0.1403	0.2345	0.1773	0.2655	0.2648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	964.46	1	chr1	212897349	.	T	TACAC	964.46	.	AC=14;AF=0.389;AN=36;DP=58;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6133;MLEAC=15;MLEAF=0.417;MQ=60.00;QD=27.57;SOR=0.874	GT:AD:DP:GQ:PL	1/1:0,3:3:9:135,9,0	11	7	0	3
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q,	.	YES	440	2	22	1058	0	2138	0.998133	.	.	1704217	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.61	T	0.0	B	0.0	B	0.484	N	1.000	P	-0.345	N	1.98	T	-1.012	T	0.000	T	0.024	1.017	9.155	-4.95	-0.777	-0.899	2.079	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	1.0	76821.81	101	chr1	226735804	.	G	T	76821.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=1.84;DP=2407;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=33.21;ReadPosRankSum=1.53;SOR=0.318	GT:AD:DP:GQ:PL	1/1:0,135:135:99:4210,404,0	0	21	0	0
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A,	.	YES	424	234	529	335	0	1199	0.719256	.	.	1704219	Myeloproliferative_neoplasm,_unclassifiable|not_specified	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.983	N	1.000	P	-0.695	N	2.07	T	-0.944	T	0.000	T	0.028	-1.112	0.132	1.01	-0.121	0.079	3.041	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5714	30384.06	73	chr1	226736237	.	A	C	30384.06	.	AC=24;AF=0.571;AN=42;BaseQRankSum=2.65;DP=1720;ExcessHet=0.2438;FS=1.233;InbreedingCoeff=0.2222;MLEAC=24;MLEAF=0.571;MQ=60.00;MQRankSum=0.00;QD=23.70;ReadPosRankSum=0.128;SOR=0.798	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3759,318,0	5	8	8	0
chr1	226737175	226737183	CTGCCGCTG	-	exonic	ITPKB	.	nonframeshift deletion	ITPKB:NM_002221:exon2:c.276_284del:p.G94_S96del,	.	.	422	529	453	118	0	689	0.39439	.	.	1704216	Myeloproliferative_neoplasm,_unclassifiable	MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2063	0.281949	0.2860	0.2580	0.2922	0.2649	0.2750	0.2861	0.3190	0.3021	0.0001153	3	26028	rs147889095	0.2812	0.2802	0.2803	0.2821	0.3168	0.2805	0.2802	0.3045	0.2996	0.2472	0.2922	0.2918	0.2716	0.2734	0.3168	0.2803	0.2944	0.2936	0.2774	0.2784	0.2782	0.2765	0.3020	0.2752	0.2742	0.2947	0.2918	0.2558	0.3792	0.3020	0.2989	0.2778	0.2744	0.2789	0.2810	0.2973	0.2968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	18319.76	45	chr1	226737174	.	ACTGCCGCTG	A	18319.76	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.080e-01;DP=1102;ExcessHet=0.0958;FS=0.000;InbreedingCoeff=0.3082;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=29.41;ReadPosRankSum=0.447;SOR=0.673	GT:AD:DP:GQ:PL	1/1:0,49:49:99:2188,149,0	9	5	7	0
chr1	237833281	237833281	-	A	UTR3	RYR2	NM_001035:c.*634_*635insA	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	1408	66	5	15	28	63	0.209581	.	.	280387	not_provided|Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:C3661900|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs377407067	0.2755	0.0041	0.2917	0.2703	.	0.1945	0.1673	.	.	.	.	.	.	0.2812	.	.	0	.	0.4582	0.4444	0.4668	0.4482	0.5296	0.4549	0.4535	0.5246	0.5225	0.3777	0.5124	0.3661	0.6708	0.0836	0.4726	0.6667	0.5296	0.4907	0.3968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	5237.92	24	chr1	237833281	.	G	GAA,GA	5237.92	.	AC=6,20;AF=0.150,0.500;AN=40;BaseQRankSum=0.164;DP=578;ExcessHet=1.5101;FS=1.093;InbreedingCoeff=-0.0690;MLEAC=6,21;MLEAF=0.150,0.525;MQ=60.00;MQRankSum=0.00;QD=16.63;ReadPosRankSum=0.147;SOR=0.801	GT:AD:DP:GQ:PL	2/2:0,0,12:12:36:301,301,301,36,36,0	2	0	2	1
chr1	241500603	241500604	GA	-	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	435	459	46	27	555	655	0.0982318	.	.	280521	Hereditary_leiomyomatosis_and_renal_cell_cancer|not_provided|Fumarase_deficiency|Hereditary_cancer-predisposing_syndrome|FH-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:C3661900|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1491361156	0.0408	0.0471	0.0403	0.0412	0.1123	0.0405	0.0404	0.1094	0.1083	0.1101	0.0807	0.0668	0.1123	0.0526	0.0602	0.0329	0.0476	0.0425	0.0220	0.0219	0.0220	0.0219	0.0720	0.0213	0.0210	0.0697	0.0687	0.0720	0.0012	0.0094	0.0024	0.0065	0.0031	0.0074	0.0030	0.0122	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11846.01	26	chr1	241500602	.	TGA	TGAGA,TGAGAGA,T,TGAGAGAGAGA,TGAGAGAGA,TGAGAGAGAGAGAGAGA	11846.01	.	AC=10,12,1,3,6,1;AF=0.250,0.300,0.025,0.075,0.150,0.025;AN=40;BaseQRankSum=0.270;DP=1010;ExcessHet=0.9430;FS=2.185;InbreedingCoeff=-0.1062;MLEAC=10,12,1,3,6,1;MLEAF=0.250,0.300,0.025,0.075,0.150,0.025;MQ=59.96;MQRankSum=0.00;QD=25.59;ReadPosRankSum=0.383;SOR=1.052	GT:AD:DP:GQ:PL	1/2:0,11,5,0,0,0,0:16:90:482,137,90,274,0,261,453,135,275,441,453,135,275,441,441,453,135,275,441,441,441,453,135,275,441,441,441,441	0	0	1	1
chr2	10046292	10046292	A	G	exonic	KLF11	.	nonsynonymous SNV	KLF11:NM_001177716:exon2:c.A134G:p.Q45R	Maturity-onset diabetes of the young, type VII	.	0	1178	317	27	0	371	0.136047	.	.	134877	not_provided|Maturity-onset_diabetes_of_the_young_type_7|Type_2_diabetes_mellitus|not_specified	MedGen:C3661900|MONDO:MONDO:0012513,MedGen:C1864839,OMIM:610508,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.003	B	0.003	B	0.075	N	0.776	P	2.215	M	2.54	T	-1.045	T	0.004	T	0.079	1.637	11.43	-0.464	-0.043	2.349	5.936	0.069	.	0.0948	0.0579073	0.0926	0.0485	0.0715	0.0007	0.0784	0.1210	0.0982	0.0743	0.0938216	14505	154602	rs35927125	0.1101	0.1101	0.1108	0.1094	0.1420	0.1096	0.1095	0.1339	0.1307	0.0445	0.0737	0.1436	0.0003	0.0785	0.1420	0.1213	0.1021	0.0731	0.0876	0.0877	0.0903	0.0849	0.1190	0.0864	0.0859	0.1168	0.1159	0.0466	0.2281	0.0887	0.1375	0.0012	0.0684	0.1054	0.1190	0.0993	0.0624	0.234	0.40319	T	0.112	0.37037	T	0.003	0.11197	B	0.003	0.08700	B	0.074747	0.21265	N	0.531770	0.775729	0.29388	P	2.245	0.63543	M	-0.08	0.64264	T	-1.66	0.39692	N	0.077	0.07811	-1.0450	0.15825	T	0.004	0.01159	T	9	0.0014551878	0.00016	T	.	.	.	0.069	0.20116	.	.	.	.	0.11116927843056919	0.11045	0.0220195940858	0.02206	0.381488621235	0.22467	T	0.106617	0.58414	T	-0.561062	0.00250	T	-0.481987	0.24234	T	0.00582005920212492	0.00064	T	0.444056	0.12562	T	0.122069955	0.28691	0.104471974	0.25093	0.122609735	0.28808	0.09206602	0.21677	-2.617	0.06657	T	.	.	0.083	0.50826	B	.;.;.;.;.;.	.;.;.;.;.;.	1.834154	0.23302	15.96	0.97094580005344999	0.32340	0.78478	0.38724	D	AEFGBCI	0.264108	0.38152	N	-0.478553388836769	0.22785	1.219059	-0.479352045089021	0.22723	1.23563	0.999904591183748	0.45458	0.634777	0.41761	0	0.633656	0.55848	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.03	-0.464	0.11553	2.091000	0.41316	1.400000	0.26189	0.756000	0.94297	0.895000	0.31310	0.998000	0.33993	0.953000	0.50222	0.6594:0.1265:0.214:0.0	5.936	0.18406	813	0.42397	.;.;.;.;.;.	RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2|RP11-254F7.2	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Hippocampus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Thyroid|Vagina|Whole_Blood	.	.	rs35927125	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.119	6211.44	35	chr2	10046292	.	A	G	6211.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.669e+00;DP=1178;ExcessHet=1.1607;FS=3.228;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-1.009e+00;SOR=0.731	GT:AD:DP:GQ:PL	0/1:65,68:133:99:1666,0,1725	16	0	5	0
chr2	21002482	21002482	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.A12940G:p.I4314V,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	1	1508	13	0	0	13	0.00429185	.	.	238599	not_specified|Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_autosomal_dominant,_type_B|Cardiovascular_phenotype|not_provided|Hypercholesterolemia,_familial,_1|Familial_hypercholesterolemia	MedGen:CN169374|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.47	T	0.01	B	0.007	B	0.031	N	0.736	D	1.195	L	5.83	T	-0.887	T	0.002	T	0.089	0.663	7.554	-0.094	0.110	-0.104	6.437	0.010	0.0135688463301	0.0068	0.00419329	0.0059	0.0015	0.0016	0	0.0026	0.0090	0.0055	0.0038	0.0061642	953	154602	rs72654423	0.0079	0.0079	0.0080	0.0077	0.0095	0.0078	0.0077	0.0093	0.0092	0.0013	0.0020	3.833e-05	5.042e-05	0.0029	0.0026	0.0095	0.0064	0.0037	0.0055	0.0055	0.0060	0.0050	0.0098	0.0052	0.0051	0.0091	0.0089	0.0015	0	0.0035	0	0.0002	0.0022	0.0068	0.0098	0.0024	0.0056	0.281	0.15458	T	0.817	0.03863	T	.	.	.	.	.	.	0.031288	0.25189	N	0.337595	1	0.08975	N	.	.	.	5.83	0.00652	T	-0.57	0.17210	N	0.05	0.02179	-0.8875	0.49147	T	0.002	0.00556	T	10	0.0038571954	0.00073	T	0.013569	0.33074	T	0.010	0.01040	.	.	0.231873229951	0.22792	0.12268873498809205	0.12194	0.0333722288845	0.03491	0.462339639664	0.33631	T	.	.	.	-0.674738	0.00051	T	-0.731603	0.04255	T	0.00316936208187777	0.00033	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.26886	B	.	.	-0.153083	0.03340	0.587	0.57643191457303833	0.05815	0.18874	0.20437	N	AEFBCI	0.377377	0.46117	N	-1.01349481841357	0.08324	0.3898555	-1.04597286067555	0.08791	0.4339804	0.868844812583667	0.25373	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	-0.0944	0.12981	-0.085000	0.11215	0.251000	0.16428	0.609000	0.47794	0.002000	0.15269	0.034000	0.21380	0.010000	0.09038	0.0:0.1773:0.3958:0.4269	6.437	0.21031	861	0.33516	.	.	.	.	.	.	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	1	0	0.02381	1834.98	40	chr2	21002482	.	T	C	1834.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.375e+00;DP=1619;ExcessHet=0.0000;FS=0.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=-7.460e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:60,73:133:99:1849,0,1647	20	0	1	0
chr2	21008720	21008720	G	A	exonic	APOB	.	synonymous SNV	APOB:NM_000384:exon26:c.C8148T:p.I2716I,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	0	1466	54	2	0	58	0.019398	.	.	238609	not_specified|Cardiovascular_phenotype|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_type_B|not_provided|Hypercholesterolemia,_familial,_1	MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0236	0.014377	0.0195	0.0301	0.0105	0.0001	0.0256	0.0230	0.0264	0.0127	0.0184086	2846	154602	rs6413458	0.0188	0.0189	0.0191	0.0186	0.0325	0.0187	0.0186	0.0309	0.0303	0.0325	0.0111	0.0589	7.557e-05	0.0240	0.0151	0.0187	0.0213	0.0114	0.0220	0.0220	0.0221	0.0218	0.0323	0.0213	0.0211	0.0309	0.0303	0.0323	0.0219	0.0124	0.0588	0	0.0226	0.0442	0.0183	0.0189	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.04762	20470.11	37	chr2	21008720	.	G	A	20470.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.07;DP=8898;ExcessHet=0.1072;FS=0.518;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=0.923;SOR=0.724	GT:AD:DP:GQ:PL	0/1:444,418:862:99:10770,0,10978	19	0	2	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I,	Cystinuria, Autosomal recessive, Autosomal dominant	YES	1	171	630	720	0	2070	0.858209	.	.	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.78	T	0.001	B	0.001	B	0.120	N	1.000	P	1.095	L	-4.41	D	-0.903	T	0.000	T	0.046	0.686	7.667	-1.37	0.140	-0.163	2.100	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.8333	74868.88	116	chr2	44320435	.	G	A	74868.88	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-1.187e+00;DP=2972;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=25.99;ReadPosRankSum=0.083;SOR=0.687	GT:AD:DP:GQ:PL	0/1:66,78:144:99:2227,0,1788	0	14	7	0
chr2	47806752	47806753	TT	-	intronic	MSH6	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	94983	Breast_and/or_ovarian_cancer|Lynch_syndrome_5|not_specified|not_provided	MedGen:CN221562|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1323	0.1439	0.1002	0.1406	0.1805	0.1444	0.1260	0.0985	0.0002305	6	26028	rs1491083972	0.0558	0.0746	0.0554	0.0562	0.0568	0.0555	0.0553	0.0554	0.0552	0.0568	0.0478	0.0707	0.0549	0.0678	0.0488	0.0558	0.0550	0.0492	0.0039	0.0046	0.0038	0.0039	0.0069	0.0036	0.0035	0.0049	0.0042	0.0027	0	0.0027	0.0024	0.0029	0.0042	0	0.0048	0.0026	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8839.08	81	chr2	47806751	.	CTT	C,CT	8839.08	.	AC=3,20;AF=0.071,0.476;AN=42;BaseQRankSum=-5.280e-01;DP=1860;ExcessHet=36.0830;FS=0.544;InbreedingCoeff=-0.8261;MLEAC=2,20;MLEAF=0.048,0.476;MQ=59.99;MQRankSum=0.00;QD=7.04;ReadPosRankSum=0.160;SOR=0.758	GT:AD:DP:GQ:PL	0/2:12,7,29:51:62:636,389,722,0,62,113	0	0	1	0
chr2	47905552	47905554	GCT	-	exonic	FBXO11	.	nonframeshift deletion	FBXO11:NM_001190274:exon1:c.167_169del:p.Q56del,	.	.	419	1077	19	0	7	26	0.00874367	.	.	1356566	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0219	0	0	0	0	0.0109	0	0.0282	3.84e-05	1	26028	rs746953076	0.0013	0.0065	0.0012	0.0013	0.0028	0.0012	0.0012	0.0022	0.0020	0.0014	0.0022	0.0010	0.0015	0.0022	0.0007	0.0012	0.0012	0.0028	0.0002	0.0003	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0.0001	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	855.36	33	chr2	47905551	.	GGCT	G,GGCTGCT	855.36	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-7.820e-01;DP=621;ExcessHet=0.3300;FS=2.208;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-1.117e+00;SOR=0.379	GT:AD:DP:GQ:PL	0/1:24,4,0:28:96:96,0,972,168,984,1152	18	0	2	0
chr2	48713934	48713934	A	-	intronic	LHCGR;STON1-GTF2A1L	.	.	.	.	.	8	920	487	107	0	701	0.275876	.	.	45133	not_provided|Gonadotropin-independent_familial_sexual_precocity	MedGen:C3661900|MONDO:MONDO:0008303,MedGen:C0342549,OMIM:176410,Orphanet:3000	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1143	0.148762	.	.	.	.	.	.	.	.	0.0035252	545	154602	rs111834744	0.1024	0.0983	0.0993	0.1052	0.2237	0.1019	0.1017	0.2130	0.2087	0.1692	0.1756	0.1510	0.1562	0.1144	0.2237	0.0811	0.1200	0.1942	0.1216	0.1219	0.1175	0.1258	0.1888	0.1201	0.1195	0.1786	0.1745	0.1664	0.0209	0.1489	0.1473	0.1324	0.1139	0.2313	0.0830	0.1300	0.1888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8827.49	69	chr2	48713933	.	CA	C	8827.49	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.440e-01;DP=1030;ExcessHet=0.2785;FS=0.528;InbreedingCoeff=0.1429;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=17.69;ReadPosRankSum=0.469;SOR=0.640	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1638,0,1772	15	1	5	0
chr2	69326244	69326245	AA	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	20	58	78	59	11	207	0.628205	.	.	287070	Congenital_Myasthenic_Syndrome,_Recessive|Congenital_myasthenic_syndrome_12|not_provided	MedGen:CN239337|MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0895	0.1623	0.0441	0.2283	0.0324	0.0560	0.0745	0.1540	0.0003842	10	26028	rs201268947	0.0369	0.0687	0.0349	0.0389	0.1957	0.0366	0.0365	0.1919	0.1903	0.1245	0.0257	0.0432	0.1957	0.0199	0.0296	0.0216	0.0478	0.1207	0.0320	0.0320	0.0303	0.0338	0.1935	0.0312	0.0309	0.1832	0.1790	0.0674	0	0.0143	0.0117	0.1935	0.0014	0.0112	0.0030	0.0297	0.1004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	14896.37	76	chr2	69326243	.	GAA	GA,G,GAAA	14896.37	.	AC=23,2,1;AF=0.548,0.048,0.024;AN=42;BaseQRankSum=-8.000e-03;DP=1288;ExcessHet=10.5502;FS=0.000;InbreedingCoeff=-0.3473;MLEAC=22,2,1;MLEAF=0.524,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.00;SOR=0.666	GT:AD:DP:GQ:PL	0/1:25,32,2,2:61:99:679,0,500,698,617,1571,792,532,1373,1597	1	5	12	0
chr2	73519968	73519968	G	A	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon11:c.G9733A:p.A3245T	Alstrom syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	915021	Alstrom_syndrome|Cardiovascular_phenotype|not_specified|not_provided	MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.728	P	0.457	P	0.083	N	1.000	D	1.525	L	3.13	T	-1.129	T	0.030	T	0.149	3.966	20.3	4.75	1.530	2.516	10.851	0.078	0.00304097776772	.	0.000199681	0.0001	0	0	0.0016	0	0	0	0.0001	0.00011	17	154602	rs200432874	4.378e-05	4.378e-05	4.628e-05	4.125e-05	0.0013	3.509e-05	3.193e-05	0.0010	0.0009	0	0	0	0.0013	0	0	0	8.279e-05	0.0001	6.566e-05	6.562e-05	6.425e-05	6.714e-05	0.0017	3.514e-05	2.615e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	0	0	0.0002	.	.	.	0.015	0.61642	D	.	.	.	.	.	.	0.083213	0.20765	N	0.412949	0.981333	0.25047	N	.	.	.	.	.	.	.	.	.	0.202	0.22998	-1.1286	0.01850	T	0.030	0.12760	T	10	0.022248536	0.00551	T	0.003041	0.06547	T	.	.	.	.	0.259272394797	0.25527	0.12811979687283492	0.12736	.	.	0.318226397038	0.13152	T	0.037572	0.24522	T	-0.481061	0.00729	T	-0.477018	0.24764	T	0.0777041379065931	0.09690	T	0.70083	0.31049	T	0.02767465	0.01993	0.07143691	0.15297	0.02767465	0.01993	0.07143691	0.15297	-2.67	0.07054	T	0.6145233880964431	0.68237	0.104	0.18950	B	.;.;.	.;.;.	2.267205	0.28977	17.97	0.99719098037052845	0.81914	0.76704	0.37640	D	AEFBI	0.107581	0.21430	N	-0.0892692972756828	0.37862	2.208991	-0.0629884261258948	0.36934	2.155838	0.00156036352657918	0.08639	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.62	4.75	0.59954	1.494000	0.35225	3.231000	0.36908	-0.113000	0.14837	0.950000	0.33075	0.999000	0.35428	0.012000	0.09680	0.0869:0.0:0.9131:0.0	10.851	0.45979	586	0.69252	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1686.98	35	chr2	73519968	.	G	A	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.740e-01;DP=861;ExcessHet=0.0000;FS=9.402;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-6.320e-01;SOR=1.298	GT:AD:DP:GQ:PL	0/1:62,70:132:99:1701,0,1461	20	0	1	0
chr2	98346189	98346189	A	G	upstream	CNGA3	dist=267	.	.	Achromatopsia 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	291338	Achromatopsia_2|not_provided	MONDO:MONDO:0009003,MedGen:C1857618,OMIM:216900,Orphanet:49382|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	.	.	.	.	.	.	.	.	0.0026126	68	26028	rs143449407	0.0027	0.0012	0.0026	0.0028	0.0078	0.0025	0.0025	0.0046	0.0037	0.0003	0.0003	0.0002	0	0.0083	0.0078	0.0027	0.0022	0.0073	0.0022	0.0022	0.0020	0.0023	0.0058	0.0020	0.0019	0.0041	0.0036	0.0005	0	0.0015	0.0003	0	0.0057	0.0068	0.0028	0.0009	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	85.3	3	chr2	98346189	.	A	G	85.3	.	AC=2;AF=0.100;AN=20;DP=67;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4361;MLEAC=3;MLEAF=0.150;MQ=60.00;QD=21.32;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	9	1	0	11
chr2	98396476	98396476	C	T	exonic	CNGA3	.	nonsynonymous SNV	CNGA3:NM_001079878:exon7:c.C1252T:p.R418W	Achromatopsia 2, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	24521	not_provided|Retinal_dystrophy|Achromatopsia|Achromatopsia_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:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382|MONDO:MONDO:0009003,MedGen:C1857618,OMIM:216900,Orphanet:49382	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	A	3.71	H	-4.4	D	1.137	D	0.958	D	0.977	2.389	13.95	3.96	1.243	1.463	11.444	0.858	0.442367690163	0.0002	0.000199681	9.122e-05	9.787e-05	0	0.0001	0	4.527e-05	0	0.0004	7.76e-05	12	154602	rs104893621	6.978e-05	7.046e-05	6.398e-05	7.564e-05	0.0003	5.847e-05	5.457e-05	0.0002	0.0002	8.961e-05	0	0.0003	0.0001	0	0	5.126e-05	3.312e-05	0.0003	6.573e-05	6.562e-05	2.572e-05	0.0001	0.0012	3.518e-05	2.617e-05	0.0005	0.0004	0	0	0	0.0006	0	0	0	2.941e-05	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	A	3.825	0.95591	H	-4.4	0.97419	D	-7.49	0.95015	D	0.864	0.91505	1.137	0.99934	D	0.958	0.98639	D	9	0.9475945	0.94088	D	0.442368	0.94189	D	0.858	0.95655	.	.	0.999780721258	0.99977	0.8708964004251063	0.87055	0.520053127806	0.49812	0.684177279472	0.64869	T	0.852278	0.96649	D	0.289016	0.82075	D	0.487894	0.94369	D	0.989059329032898	0.79317	D	0.989851	0.96764	D	0.7516196	0.80962	0.5351026	0.73135	0.7428448	0.80456	0.48338583	0.70091	-14.13	0.93552	D	0.9858449454989004	0.99628	0.564	0.67382	P	.;.;.;.	.;.;.;.	5.299400	0.88975	29.8	0.99850493336936375	0.93013	0.58719	0.30718	D	AEFBI	0.559103	0.56805	D	0.316641426234155	0.57001	3.866101	0.144705948789566	0.46863	2.925359	0.0536682594544488	0.14946	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	3.96	0.45097	1.569000	0.36037	1.779000	0.28700	-0.224000	0.07868	0.799000	0.29708	0.927000	0.28453	0.706000	0.34326	0.3274:0.6726:0.0:0.0	11.444	0.49357	279	0.89001	.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2765.08	35	chr2	98396476	.	C	T	2765.08	.	AC=2;AF=0.048;AN=42;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.92;SOR=0.954	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2793,252,0	20	1	0	0
chr2	135787999	135787999	C	G	UTR3	LCT	NM_002299:c.*325G>C	.	.	Lactase deficiency, congenital, Autosomal recessive	.	863	649	7	3	0	13	0.00991609	.	.	282503	Lactose_intolerance|Congenital_lactase_deficiency	Human_Phenotype_Ontology:HP:0004789,MONDO:MONDO:0100345,MedGen:C0022951|MONDO:MONDO:0009115,MedGen:C0268179,OMIM:223000,Orphanet:53690	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0167732	.	.	.	.	.	.	.	.	0.0028137	435	154602	rs62170085	0.0172	0.0121	0.0154	0.0188	0.0344	0.0168	0.0166	0.0312	0.0299	0.0032	0.0344	0.0389	0.0031	0.0197	0.0339	0.0131	0.0177	0.0305	0.0135	0.0135	0.0123	0.0147	0.0312	0.0130	0.0128	0.0271	0.0255	0.0033	0	0.0282	0.0392	0.0021	0.0213	0.0170	0.0136	0.0142	0.0312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	412.97	12	chr2	135787999	.	C	G	412.97	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-9.770e-01;DP=249;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1063;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=-4.050e-01;SOR=1.030	GT:AD:DP:GQ:PL	0/1:4,6:10:99:181,0,105	17	0	4	0
chr2	171448665	171448665	-	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	.	295	1061	129	35	2	201	0.0857389	.	.	1153880	not_specified|not_provided|Woodhouse-Sakati_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1900	0.1440	0.2965	0.1542	0.1838	0.1738	0.1942	0.2313	0.0121408	316	26028	rs139655160	0.1523	0.1653	0.1512	0.1534	0.2241	0.1517	0.1515	0.2196	0.2178	0.1225	0.2241	0.1819	0.1751	0.1501	0.1619	0.1464	0.1560	0.1975	0.1961	0.1983	0.1956	0.1968	0.2795	0.1943	0.1935	0.2670	0.2620	0.1627	0.1681	0.2502	0.2551	0.1836	0.2003	0.2363	0.1955	0.2145	0.2795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8128.42	49	chr2	171448665	.	C	CT	8128.42	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.490;DP=809;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2857;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=-2.670e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:99:1|1:171448665_C_CT:1486,101,0:171448665	8	1	12	0
chr2	171448667	171448667	C	T	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	.	305	1005	21	3	188	215	0.0132548	.	.	189063	not_provided|Woodhouse-Sakati_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207069	0.2822	0.2104	0.4319	0.2364	0.2448	0.2580	0.2773	0.3437	0.0139778	2161	154602	rs192861143	0.2297	0.1974	0.2282	0.2312	0.3467	0.2289	0.2286	0.3409	0.3385	0.1856	0.3467	0.2716	0.2622	0.2223	0.2208	0.2204	0.2344	0.2999	0.2054	0.2045	0.2034	0.2075	0.2886	0.2034	0.2026	0.2757	0.2706	0.1695	0.1726	0.2733	0.2593	0.1987	0.2244	0.2396	0.2008	0.2248	0.2886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	9299.46	49	chr2	171448667	.	C	T	9299.46	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.544;DP=842;ExcessHet=6.1794;FS=1.204;InbreedingCoeff=-0.2857;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=18.31;ReadPosRankSum=0.040;SOR=0.580	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34:34:99:1|1:171448665_C_CT:1486,101,0:171448665	8	1	12	0
chr2	171458135	171458135	T	-	intronic	DCAF17	.	.	.	Woodhouse-Sakati syndrome, Autosomal recessive	.	50	730	457	105	180	847	0.313587	.	.	1258517	not_provided|not_specified|Woodhouse-Sakati_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227835	.	.	.	.	.	.	.	.	0.0401491	1045	26028	rs58636477	0.2283	0.2354	0.2253	0.2312	0.3807	0.2275	0.2272	0.3754	0.3733	0.2227	0.3807	0.2915	0.2775	0.2308	0.2404	0.2103	0.2387	0.3067	0.2115	0.2106	0.2096	0.2136	0.2856	0.2096	0.2088	0.2729	0.2678	0.1932	0.1718	0.2748	0.2573	0.1950	0.2276	0.2413	0.1998	0.2246	0.2856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	10184.04	71	chr2	171458134	.	AT	ATT,A	10184.04	.	AC=4,14;AF=0.095,0.333;AN=42;BaseQRankSum=0.154;DP=1314;ExcessHet=8.7631;FS=0.633;InbreedingCoeff=-0.3611;MLEAC=4,14;MLEAF=0.095,0.333;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.111;SOR=0.809	GT:AD:DP:GQ:PL	2/2:1,0,52:55:99:1460,1463,1505,136,165,0	5	0	3	0
chr2	178535859	178535859	A	-	ncRNA_intronic	TTN-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	286102	Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-girdle_muscular_dystrophy,_recessive|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy_2|Cardiomyopathy|not_specified|Hypertrophic_cardiomyopathy	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3039	0.2943	0.2856	0.2745	0.3470	0.3015	0.3364	0.3033	0.0023052	60	26028	rs749872538	0.1647	0.2031	0.1641	0.1654	0.1897	0.1640	0.1637	0.1842	0.1819	0.1658	0.1897	0.1758	0.1845	0.1899	0.1839	0.1614	0.1713	0.1743	0.0040	0.0053	0.0035	0.0046	0.0064	0.0037	0.0036	0.0052	0.0047	0.0050	0	0.0064	0.0117	0.0021	0.0111	0.0051	0.0020	0.0056	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1402.97	160	chr2	178535858	.	GA	G	1402.97	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.350e-01;DP=3018;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.4826;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=0.92;ReadPosRankSum=0.092;SOR=0.674	GT:AD:DP:GQ:PL	0/1:85,12:118:10:10,0,1943	7	0	14	0
chr2	178603861	178603861	C	T	ncRNA_intronic	TTN-AS1	.	.	.	.	.	2	1515	5	0	0	5	0.00164745	.	.	56261	Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0003	0	0.0002	0	0.0003	0.0003	0.0025	0.0013	0.0002652	41	154602	rs201450276	0.0003	0.0003	0.0003	0.0003	0.0015	0.0003	0.0002	0.0013	0.0012	9.472e-05	4.962e-05	0	5.313e-05	0.0004	0.0004	0.0002	0.0003	0.0015	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	4.833e-05	0	0	0	0.0002	0.0003	0	0.0004	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1141.98	40	chr2	178603861	.	C	T	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.044;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.55;ReadPosRankSum=-2.070e+00;SOR=0.536	GT:AD:DP:GQ:PL	0/1:31,38:69:99:1156,0,920	20	0	1	0
chr2	178632203	178632203	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon64:c.C16496G:p.S5499C	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	YES	1	1518	3	0	0	3	0.000987167	.	.	449819	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	0.735	N	-0.27	T	-0.276	T	0.384	T	0.501	2.395	13.97	6.03	2.861	9.807	20.557	0.507	0.0120741338723	0.0002	.	6.125e-05	0	0	0	0	0.0001	0	0	3.23e-05	5	154602	rs377015571	1.236e-05	1.3e-05	1.229e-05	1.243e-05	0.0002	7.72e-06	6.37e-06	6.54e-06	5.04e-06	2.994e-05	0	0	0	0	0.0002	1.172e-05	4.987e-05	0	1.973e-05	1.97e-05	3.854e-05	0	4.412e-05	5.24e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.009	0.59928	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999999	0.81001	D	1.52	0.38360	L	-0.27	0.67367	T	-3.76	0.72240	D	0.43	0.67908	-0.2763	0.75641	T	0.384	0.73995	T	9	0.2945674	0.47028	T	0.012074	0.30309	T	0.507	0.78786	.	.	0.474876406573	0.47116	.	.	0.458380669649	0.45448	0.546233534813	0.45326	T	.	.	.	-0.081556	0.39462	T	-0.17091	0.57360	T	0.109447616953563	0.13366	T	0.886311	0.61284	D	.	.	.	.	.	.	.	.	-2.659	0.06965	T	.	.	0.285	0.51772	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.340641	0.46033	22.2	0.91785959840255715	0.21090	0.99432	0.95955	D	AEFBI	0.961094	0.98219	D	0.806653778161442	0.86520	8.912091	0.862255028835627	0.93711	12.22712	0.999999999999996	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	9.940000	0.98890	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.557	0.99307	432	0.80690	.;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1243.98	34	chr2	178632203	.	G	C	1243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=810;ExcessHet=0.0000;FS=0.724;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.773;SOR=0.582	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1258,0,1326	20	0	1	0
chr2	178647041	178647044	TATA	-	intronic	TTN	.	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	13	40	104	7	62	180	0.59596	.	.	189623	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0482	0.1273	0.1042	0.0096	0.0474	0.0241	0	0.0491	0.0016235	251	154602	rs1459735441	0.0244	0.0273	0.0245	0.0244	0.0813	0.0241	0.0239	0.0771	0.0754	0.0813	0.0606	0.0341	0.0286	0.0250	0.0346	0.0212	0.0322	0.0376	0.0001	0.0008	0.0001	0.0002	0.0005	9.801e-05	8.172e-05	9.488e-05	5.662e-05	7.556e-05	0	0.0003	0	0	0.0009	0	3.086e-05	0.0010	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5500.35	31	chr2	178647040	.	GTATA	GTA,G,GTATATA	5500.35	.	AC=17,2,4;AF=0.405,0.048,0.095;AN=42;BaseQRankSum=0.672;DP=552;ExcessHet=21.3848;FS=6.022;InbreedingCoeff=-0.6389;MLEAC=17,2,4;MLEAF=0.405,0.048,0.095;MQ=59.99;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-3.040e-01;SOR=1.127	GT:AD:DP:GQ:PL	0/1:9,18,2,0:29:99:571,0,232,522,248,939,600,311,898,951	1	0	14	0
chr2	178756410	178756410	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133437:exon44:c.T10553C:p.I3518T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	2	1514	5	1	0	7	0.00230643	.	.	517488	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified	MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	-0.26	T	-0.929	T	0.154	T	0.035	0.648	7.477	1.32	-0.073	1.165	1.401	0.141	0.012017491557	.	0.000798722	0.0002	0.0001	0	0	0	3.003e-05	0	0.0012	0.0001746	27	154602	rs527924868	9.374e-05	9.371e-05	7.216e-05	0.0001	0.0012	8.094e-05	7.586e-05	0.0010	0.0010	0	2.237e-05	0	0	0	0.0005	2.159e-05	6.626e-05	0.0012	0.0001	0.0001	5.14e-05	0.0002	0.0023	7.087e-05	5.744e-05	0.0013	0.0010	7.217e-05	0	0	0	0	0	0	4.41e-05	0	0.0023	0.376	0.11334	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.26	0.67187	T	-0.23	0.10656	N	0.177	0.19055	-0.9291	0.44270	T	0.154	0.48378	T	8	0.0072597563	0.00165	T	0.012017	0.30212	T	0.141	0.37795	0.53	0.63707	0.39798585902	0.39410	.	.	0.105715252096	0.11951	.	.	.	.	.	.	-0.559901	0.00254	T	-0.617569	0.11376	T	0.0202820408286895	0.00728	T	0.39866	0.10107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.304585	0.17072	12.94	0.71462420838090823	0.09637	0.04325	0.09882	N	AEFGBI	.	.	.	-0.710662544728301	0.15721	0.7947848	-0.716643614856378	0.16546	0.8758316	0.999927896473403	0.46280	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.16	1.32	0.20897	1.200000	0.31854	.	.	0.756000	0.94297	0.001000	0.13787	0.000000	0.08366	0.821000	0.38685	0.3985:0.2468:0.2329:0.1217	1.401	0.02134	341	0.85936	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2264.98	45	chr2	178756410	.	A	G	2264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.431;DP=987;ExcessHet=0.0000;FS=3.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=0.449;SOR=0.619	GT:AD:DP:GQ:PL	0/1:77,81:158:99:2279,0,2114	20	0	1	0
chr2	210674926	210674926	G	A	exonic	CPS1	.	nonsynonymous SNV	CPS1:NM_001875:exon35:c.G4126A:p.G1376S	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	.	2	1465	54	1	0	56	0.0187542	.	.	250541	not_specified|Congenital_hyperammonemia,_type_I	MedGen:CN169374|MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.007	B	0.007	B	0.000	D	0.992	D	1.01	L	-1.38	T	-0.640	T	0.209	T	0.129	2.713	15.03	5.88	2.785	3.682	13.635	0.275	.	0.0124	0.00858626	0.0118	0.0025	0.0093	0.0001	0.0286	0.0154	0.0132	0.0040	0.0117139	1811	154602	rs140578009	0.0137	0.0138	0.0139	0.0136	0.0361	0.0136	0.0135	0.0321	0.0306	0.0026	0.0125	0.0304	0	0.0315	0.0361	0.0139	0.0147	0.0047	0.0127	0.0127	0.0123	0.0132	0.0158	0.0123	0.0121	0.0148	0.0145	0.0029	0	0.0158	0.0354	0.0004	0.0293	0.0306	0.0156	0.0170	0.0066	0.186	0.21718	T	0.239	0.24549	T	0.007	0.14184	B	0.007	0.12992	B	0.000020	0.62929	D	0.152798	0.992015	0.41532	D	0.57	0.15267	N	-1.38	0.80301	T	0.64	0.03700	N	0.074	0.15328	-0.6396	0.63163	T	0.209	0.56906	T	10	0.0067127645	0.00152	T	.	.	.	0.275	0.59130	.	.	.	.	0.5109632582465843	0.51018	0.228393132043	0.25393	0.5513048172	0.46041	T	0.199378	0.55664	T	-0.413123	0.01895	T	-0.353875	0.38760	T	0.00900897680750622	0.00113	T	0.876112	0.58827	D	0.39811295	0.60602	0.26776072	0.52637	0.4768801	0.65711	0.28978842	0.54999	-2.27	0.04394	T	0.07785063288247268	0.03686	0.088	0.14751	B	.;.;.	.;.;.	3.624166	0.51305	23.1	0.98520049521378783	0.42459	0.88124	0.47915	D	AEFBCI	0.854814	0.77187	D	0.0362871392205133	0.43511	2.642715	0.247760559247659	0.52523	3.426527	0.183598997059683	0.17905	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.567892	0.33627	0	.	.	5.88	5.88	0.94564	4.383000	0.59366	11.897000	0.99249	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0732:0.0:0.9268:0.0	13.635	0.61689	476	0.77720	.;Methylglyoxal synthase-like domain|Methylglyoxal synthase-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.07143	4060.68	33	chr2	210674926	.	G	A	4060.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.035;DP=954;ExcessHet=0.3300;FS=0.831;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.320;SOR=0.767	GT:AD:DP:GQ:PL	0/1:38,69:107:99:1615,0,877	18	0	3	0
chr2	215419286	215419286	C	T	exonic	FN1	.	nonsynonymous SNV	FN1:NM_001306129:exon12:c.G1775A:p.R592H	Glomerulopathy with fibronectin deposits 2, Autosomal dominant;Plasma fibronectin deficiency, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	708013	Chronic_kidney_disease|not_provided	Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.996	D	0.000	D	1.000	D	1.61	L	0.91	T	-0.829	T	0.211	T	0.561	5.010	29.5	6.06	2.882	4.036	13.772	0.179	0.0128955107959	0.0023	0.000599042	0.0037	0.0006	0.0006	0	0.0091	0.0053	0.0033	0.0012	0.0033764	522	154602	rs147831535	0.0028	0.0028	0.0029	0.0027	0.0031	0.0027	0.0027	0.0030	0.0030	0.0002	0.0005	0.0001	0.0001	0.0069	0.0005	0.0031	0.0019	0.0011	0.0021	0.0021	0.0019	0.0022	0.0033	0.0019	0.0018	0.0029	0.0028	0.0004	0	0.0007	0	0	0.0051	0	0.0033	0.0024	0.0015	0.041	0.53900	D	0.085	0.42261	T	0.998	0.90584	D	0.623	0.83170	P	0.000266	0.46590	D	0.091904	0.999982	0.58761	D	1.61	0.41143	L	0.91	0.44856	T	-0.72	0.24244	N	0.586	0.64563	-0.8294	0.53339	T	0.211	0.57067	T	10	0.015008301	0.00315	T	0.012896	0.31871	T	0.179	0.44899	.	.	0.801889373885	0.80004	0.23171762284513261	0.23086	1.01917520793	0.75045	0.611265778542	0.54494	T	0.200251	0.55777	T	-0.368483	0.03672	T	-0.301673	0.44548	T	0.0229380171943639	0.01017	T	0.966303	0.97864	D	0.21841252	0.44348	0.113940194	0.27501	0.17307109	0.38033	0.12706754	0.30593	-6.499	0.50278	T	0.16216808832029225	0.19902	0.124	0.28721	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.828578	0.78718	27.0	0.99943859222440889	0.99868	0.83226	0.42361	D	AEFDBHCIJ	0.649276	0.62380	D	0.624252992920057	0.74711	6.179396	0.673440140472904	0.80365	7.283156	0.999999999999566	0.74766	0.722319	0.85440	0	0.588015	0.36545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	6.06	6.06	0.98340	4.083000	0.57365	6.003000	0.52520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9303:0.0:0.0697	13.772	0.62516	772	0.48957	.;.;.;.;.;Fibronectin, type I|Fibronectin, type I|Fibronectin, type I|Fibronectin, type I|Fibronectin, type I;.;.;.;.;.	.	.	.	.	.	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	0.02381	1203.98	34	chr2	215419286	.	C	T	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.770e-01;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.901;SOR=0.730	GT:AD:DP:GQ:PL	0/1:73,56:129:99:1218,0,1715	20	0	1	0
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29369.66	106	chr2	233681881	.	T	G	29369.66	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.495e+00;DP=2097;ExcessHet=5.3459;FS=0.570;InbreedingCoeff=-0.2381;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=0.162;SOR=0.757	GT:AD:DP:GQ:PL	0/1:66,68:134:99:1596,0,1815	4	4	13	0
chr2	233760233	233760233	-	AT	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	27314	Irinotecan_response|not_provided|not_specified|Lucey-Driscoll_syndrome|Crigler-Najjar_syndrome_type_1|Gilbert_syndrome|Crigler-Najjar_syndrome,_type_II|Bilirubin,_serum_level_of,_quantitative_trait_locus_1	MedGen:CN077989|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C1866173,OMIM:601816	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|drug_response|other	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32528	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs34983651	0.3008	0.3073	0.2983	0.3034	0.3582	0.3001	0.2997	0.3546	0.3532	0.3449	0.2826	0.3392	0.1204	0.3429	0.3139	0.2993	0.3013	0.3582	0.3460	0.3472	0.3436	0.3485	0.4077	0.3435	0.3425	0.3928	0.3907	0.3979	0.4218	0.3198	0.3809	0.1263	0.4167	0.3231	0.3199	0.3187	0.4077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	5490.5	20	chr2	233760233	.	C	CAT	5490.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-8.570e-01;DP=432;ExcessHet=1.5101;FS=24.371;InbreedingCoeff=-0.0101;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=21.45;ReadPosRankSum=0.00;SOR=0.091	GT:AD:DP:GQ:PL	0/1:3,6:9:86:198,0,86	8	3	10	0
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	.	335	305	451	409	22	1291	0.675359	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	7075.96	9	chr3	27721936	.	G	GCGGCGC,GCGC	7075.96	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-5.120e-01;DP=481;ExcessHet=3.4384;FS=3.062;InbreedingCoeff=-0.1455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=22.18;ReadPosRankSum=-4.110e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:19,18,0:37:99:653,0,723,710,778,1487	5	3	12	0
chr3	100748376	100748376	G	A	exonic	TFG	.	nonsynonymous SNV	TFG:NM_001007565:exon8:c.G1048A:p.A350T	Hereditary motor and sensory neuropathy, Okinawa type, Autosomal dominant	.	8	1511	3	0	0	3	0.000991736	.	.	691249	not_provided|Inborn_genetic_diseases|Hereditary_motor_and_sensory_neuropathy,_Okinawa_type|Hereditary_spastic_paraplegia_57	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011468,MedGen:C1858338,OMIM:604484,Orphanet:90117|MONDO:MONDO:0014295,MedGen:C3714897,OMIM:615658,Orphanet:431329	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	0.85	T	-0.847	T	0.188	T	0.29	3.716	18.87	5.29	1.623	6.556	15.427	0.055	0.0127778480349	.	0.000399361	0.0003	0	0	0	0	7.497e-05	0	0.0020	0.0002587	40	154602	rs543542721	0.0001	0.0001	6.806e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0015	0	0	0	0	0	0.0007	1.169e-05	9.935e-05	0.0019	6.567e-05	6.562e-05	2.57e-05	0.0001	0.0015	3.515e-05	2.615e-05	0.0007	0.0005	0	0	0	0	0	0	0	4.41e-05	0	0.0015	0.0	0.91255	D	0.72	0.05345	T	0.0	0.02946	B	0.001	0.04355	B	0.000012	0.62929	D	0.065325	0.999613	0.47849	D	1.935	0.51832	L	0.85	0.47130	T	-0.4	0.13805	N	0.431	0.47487	-0.8467	0.52195	T	0.188	0.53797	T	10	0.017051578	0.00362	T	0.012778	0.31649	T	0.055	0.15663	0.315	0.29096	0.334885890373	0.33091	0.20848579130829042	0.20764	0.690270448302	0.60526	0.589789450169	0.51464	T	0.190193	0.54466	T	-0.425883	0.01570	T	-0.397758	0.33646	T	0.220616810834853	0.21495	T	0.89741	0.64114	D	0.23484482	0.46312	0.31253764	0.57255	0.23484482	0.46312	0.31253764	0.57254	-4.125	0.25658	T	.	.	0.084	0.12891	B	.;.;.;.	.;.;.;.	4.439718	0.68917	25.3	0.99881993893635046	0.95813	0.97714	0.76605	D	ALL	0.901678	0.84866	D	0.29710327685263	0.56003	3.764366	0.417503456572557	0.62654	4.484587	0.999999999993556	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	5.29	0.74430	6.645000	0.74198	6.695000	0.56353	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0669:0.0:0.9331:0.0	15.427	0.74780	720	0.55521	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2180.98	42	chr3	100748376	.	G	A	2180.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.391e+00;DP=1022;ExcessHet=0.0000;FS=0.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-5.840e-01;SOR=0.761	GT:AD:DP:GQ:PL	0/1:104,91:195:99:2195,0,2665	20	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T,	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,16:74:99:.:.:111,0,1293	7	0	14	0
chr3	149141200	149141200	-	TT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	293180	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0874	0.2678	0.0623	0.0136	0.0567	0.0669	0.0866	0.1206	0.0001153	3	26028	rs111598115	0.0494	0.0561	0.0489	0.0500	0.2238	0.0491	0.0490	0.2194	0.2175	0.2238	0.0419	0.0374	0.0039	0.0417	0.0609	0.0441	0.0556	0.0824	0.0888	0.0889	0.0892	0.0882	0.2303	0.0875	0.0869	0.2264	0.2248	0.2303	0.0271	0.0446	0.0315	0	0.0337	0.0292	0.0341	0.0674	0.0505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/2:256,71,100,11,0:478:99:4229,845,9191,0,7803,10705,2733,9724,11023,13725,4238,9733,9608,12320,12920	5	0	0	0
chr3	149141200	149141200	-	TTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	289084	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1528	0.0855	0.1686	0.1749	0.2173	0.1539	0.1706	0.1422	0.0001153	3	26028	rs111598115	0.1433	0.1582	0.1438	0.1429	0.1571	0.1428	0.1426	0.1536	0.1522	0.0970	0.1463	0.1186	0.1571	0.1933	0.0911	0.1440	0.1425	0.1265	0.1545	0.1568	0.1526	0.1565	0.1932	0.1528	0.1521	0.1873	0.1848	0.1476	0.0835	0.1932	0.1594	0.1759	0.2204	0.1434	0.1430	0.1580	0.1278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/2:256,71,100,11,0:478:99:4229,845,9191,0,7803,10705,2733,9724,11023,13725,4238,9733,9608,12320,12920	5	0	0	0
chr3	149141200	149141200	-	TTTTT	intronic	HPS3	.	.	.	Hermansky-Pudlak syndrome 3	.	0	74	22	0	130	152	0.129412	.	.	293178	not_provided|Hermansky-Pudlak_syndrome	MedGen:C3661900|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0744	0.0191	0.0463	0.0847	0.0760	0.0775	0.0748	0.1106	0.0070309	183	26028	rs111598115	0.1260	0.1391	0.1267	0.1253	0.1355	0.1255	0.1253	0.1333	0.1328	0.0161	0.0544	0.0660	0.1337	0.1271	0.0493	0.1336	0.1139	0.1355	0.1620	0.1643	0.1603	0.1639	0.2658	0.1603	0.1596	0.2538	0.2490	0.0392	0.1806	0.1516	0.1322	0.2658	0.2489	0.1204	0.2160	0.1362	0.2525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	107220.31	486	chr3	149141200	.	C	CTT,CTTT,CTTTT,CTTTTT	107220.31	.	AC=3,9,6,4;AF=0.071,0.214,0.143,0.095;AN=42;BaseQRankSum=-1.287e+00;DP=7745;ExcessHet=1.0911;FS=0.528;InbreedingCoeff=0.0455;MLEAC=3,9,6,4;MLEAF=0.071,0.214,0.143,0.095;MQ=60.00;MQRankSum=0.00;QD=19.31;ReadPosRankSum=0.519;SOR=0.640	GT:AD:DP:GQ:PL	0/2:256,71,100,11,0:478:99:4229,845,9191,0,7803,10705,2733,9724,11023,13725,4238,9733,9608,12320,12920	5	0	0	0
chr3	149172318	149172318	-	CTCACACA	UTR3	HPS3	NM_001308258:c.*96_*97insCTCACACA;NM_032383:c.*96_*97insCTCACACA	.	.	Hermansky-Pudlak syndrome 3	.	434	884	31	28	145	232	0.0469003	.	.	289085	not_provided|Hermansky-Pudlak_syndrome	MedGen:CN517202|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041494	108	26028	rs374839757	0.0470	0.0259	0.0407	0.0524	0.1219	0.0465	0.0463	0.1194	0.1183	0.0082	0.0199	0.0430	0.0037	0.0244	0.0376	0.0428	0.0427	0.1219	0.0473	0.0460	0.0471	0.0474	0.1446	0.0463	0.0459	0.1354	0.1317	0.0112	0.0195	0.0419	0.0634	0.0071	0.0295	0.0625	0.0679	0.0509	0.1446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2465.44	14	chr3	149172318	.	TCA	TCTCACACACA,T,TCACACACACACACACA,TCACACA,TCACACACA	2465.44	.	AC=4,4,4,3,2;AF=0.095,0.095,0.095,0.071,0.048;AN=42;BaseQRankSum=0.00;DP=284;ExcessHet=0.1324;FS=9.143;InbreedingCoeff=0.2537;MLEAC=4,4,3,2,2;MLEAF=0.095,0.095,0.071,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=22.41;ReadPosRankSum=-5.240e-01;SOR=2.033	GT:AD:DP:GQ:PL	0/1:9,6,0,0,0,0:15:99:204,0,324,232,342,574,232,342,574,574,232,342,574,574,574,232,342,574,574,574,574	9	0	3	0
chr3	165773492	165773492	C	T	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon4:c.G1699A:p.A567T,	Apnea, postanesthetic (3)	YES	44	964	416	98	0	612	0.240945	.	.	28259	Deficiency_of_butyrylcholinesterase|Butyrylcholinesterase_activity|not_specified|not_provided	MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.012	B	0.019	N	0.933	P	1.895	L	-0.18	T	-1.017	T	0.001	T	0.246	2.970	15.90	4.14	1.206	4.872	11.972	0.136	.	0.1977	0.158546	0.1891	0.1966	0.1155	0.1183	0.1714	0.2109	0.1991	0.1939	0.179157	27698	154602	rs1803274	0.1952	0.1965	0.1955	0.1949	0.2300	0.1946	0.1944	0.2197	0.2156	0.1919	0.1175	0.1779	0.1388	0.1691	0.2300	0.2027	0.1945	0.1868	0.1828	0.1828	0.1846	0.1809	0.1978	0.1810	0.1802	0.1950	0.1939	0.1886	0.2121	0.1383	0.1763	0.1173	0.1653	0.2007	0.1978	0.1835	0.1677	0.093	0.31532	T	0.15	0.37872	T	0.001	0.07471	B	0.012	0.16012	B	0.019382	0.27268	N	0.339910	0.933173	0.27002	P	2.455	0.71248	M	-0.18	0.77336	T	-0.52	0.38151	N	0.036	0.01068	-1.0170	0.24690	T	0.001	0.00222	T	9	0.0018072128	0.00024	T	.	.	.	0.136	0.36778	.	.	.	.	0.26196509411827273	0.26109	0.0146452542494	0.01391	0.319616317749	0.13362	T	0.358518	0.74836	T	-0.467858	0.00877	T	-0.301002	0.44619	T	0.0211996116972123	0.00822	T	0.774123	0.42528	T	0.22133149	0.44708	0.23066719	0.48175	0.23999383	0.46897	0.20989761	0.45352	-5.147	0.38398	T	.	.	0.085	0.16538	B	.;.	.;.	3.292023	0.45157	22.1	0.99632838182915928	0.76142	0.91322	0.53300	D	AEFI	0.801494	0.72719	D	-0.00633166657305249	0.41567	2.488702	0.123040286207381	0.45729	2.831012	0.00173072517578264	0.08818	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.03	4.14	0.47821	4.438000	0.59704	2.697000	0.34132	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9138:0.0:0.0862	11.972	0.52358	900	0.24599	Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain;Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain	BCHE	Heart_Atrial_Appendage	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.3095	13452.11	33	chr3	165773492	.	C	T	13452.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-4.230e-01;DP=1260;ExcessHet=1.3217;FS=1.851;InbreedingCoeff=-0.0027;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=0.656;SOR=0.824	GT:AD:DP:GQ:PL	0/1:36,34:70:99:761,0,899	10	2	9	0
chr3	165830741	165830741	T	C	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon2:c.A293G:p.D98G,	Apnea, postanesthetic (3)	YES	0	1484	37	1	0	39	0.0129697	.	.	28254	BCHE-related_disorder|Postanesthetic_apnea|Deficiency_of_butyrylcholinesterase|not_provided	.|MedGen:C1867468|MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.01	D	0.687	P	0.576	P	0.000	D	1.000	A	2.04	M	-0.35	T	-0.295	T	0.229	T	0.912	1.842	12.12	5.84	2.220	4.680	15.387	0.560	.	0.0139	0.00599042	0.0121	0.0041	0.0078	0	0.0145	0.0177	0.0143	0.0027	0.0125225	1936	154602	rs1799807	0.0164	0.0164	0.0167	0.0161	0.0257	0.0162	0.0162	0.0223	0.0210	0.0029	0.0092	0.0165	5.039e-05	0.0115	0.0257	0.0190	0.0144	0.0036	0.0124	0.0124	0.0128	0.0121	0.0187	0.0120	0.0118	0.0178	0.0175	0.0036	0.0143	0.0131	0.0164	0	0.0135	0.0408	0.0187	0.0184	0.0021	0.0	0.91255	D	0.004	0.74150	D	0.687	0.41560	P	0.576	0.50064	P	0.000000	0.84330	D	0.047275	0.999999	0.81001	A	1.95	0.52479	M	-0.35	0.68616	T	-5.56	0.86296	D	0.267	0.30233	-0.2952	0.75119	T	0.229	0.59396	T	9	0.006447643	0.00146	T	.	.	.	0.560	0.81946	.	.	.	.	0.7419028038735056	0.74136	0.109836271657	0.12387	0.482943356037	0.36462	T	0.594231	0.86901	D	-0.00501455	0.50959	T	0.234957	0.84905	D	0.0624237349631813	0.07545	T	0.869313	0.57326	D	0.9245528	0.93694	0.8997616	0.94959	0.9245528	0.93695	0.92525387	0.96766	-9.435	0.70454	D	0.7140101340845671	0.79452	0.425	0.60957	A	.	.	4.135434	0.61922	24.4	0.99651342800382647	0.77317	0.98567	0.84178	D	AEFI	0.860832	0.77876	D	0.342116973704189	0.58325	4.004011	0.343176022481946	0.58099	3.978427	0.099617921610113	0.16335	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.84	5.84	0.93373	7.226000	0.77541	7.957000	0.75973	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.780000	0.36908	0.0:0.0:0.0:1.0	15.387	0.74425	910	0.22284	Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2551.98	33	chr3	165830741	.	T	C	2551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.349e+00;DP=856;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.25;ReadPosRankSum=0.238;SOR=0.755	GT:AD:DP:GQ:PL	0/1:67,90:157:99:2566,0,1900	20	0	1	0
chr3	170998041	170998041	G	A	exonic	SLC2A2	.	synonymous SNV	SLC2A2:NM_001278658:exon10:c.C1080T:p.F360F	Fanconi-Bickel syndrome, Autosomal recessive	.	2	712	648	160	0	968	0.404682	.	.	135795	not_specified|not_provided|Type_2_diabetes_mellitus|Fanconi-Bickel_syndrome	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3964	0.372604	0.3159	0.5942	0.2813	0.2418	0.2678	0.3020	0.3113	0.2840	0.310611	48021	154602	rs5398	0.2950	0.2951	0.2967	0.2933	0.6047	0.2943	0.2940	0.5978	0.5949	0.6047	0.2907	0.3167	0.2228	0.2633	0.3290	0.2893	0.3178	0.2786	0.3751	0.3754	0.3789	0.3713	0.5947	0.3726	0.3715	0.5885	0.5859	0.5947	0.2429	0.3398	0.3292	0.2307	0.2443	0.3151	0.2923	0.3645	0.2732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.3333	22157.43	130	chr3	170998041	.	G	A	22157.43	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.376e+00;DP=1743;ExcessHet=2.0984;FS=1.125;InbreedingCoeff=-0.0714;MLEAC=14;MLEAF=0.333;MQ=59.99;MQRankSum=0.00;QD=16.04;ReadPosRankSum=0.364;SOR=0.576	GT:AD:DP:GQ:PL	0/1:49,57:106:99:1513,0,1253	9	2	10	0
chr3	195867623	195867623	C	T	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.G2726A:p.R909H	.	YES	400	1078	42	2	0	46	0.0208901	.	.	226709	Parkinson_disease|not_specified|not_provided	MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600,Orphanet:319705|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.814	P	0.196	B	0.007	N	1.000	N	1.32	L	2.58	T	-0.871	T	0.108	T	0.12	1.345	10.42	0.166	0.069	0.538	9.199	0.068	.	0.0125	0.0123802	0.0154	0.0034	0.0042	0.0262	0.0084	0.0175	0.0117	0.0191	0.014256	2204	154602	rs112384084	0.0178	0.0177	0.0181	0.0176	0.0310	0.0177	0.0176	0.0295	0.0289	0.0029	0.0046	0.0062	0.0310	0.0088	0.0122	0.0192	0.0160	0.0168	0.0116	0.0116	0.0122	0.0109	0.0256	0.0111	0.0109	0.0220	0.0207	0.0029	0.0252	0.0092	0.0061	0.0256	0.0056	0	0.0173	0.0090	0.0151	0.023	0.48186	D	0.011	0.64786	D	0.001	0.45487	B	0.001	0.36635	B	0.006811	0.31785	N	0.269352	1	0.08975	N	1.75	0.45442	L	2.58	0.78314	T	-2.66	0.56945	D	0.316	0.35620	-0.8706	0.50484	T	0.108	0.39123	T	10	0.003913641	0.00075	T	.	.	.	0.068	0.19811	.	.	.	.	0.2962447242822695	0.29537	0.00608565397197	0.00532	0.361748546362	0.19640	T	0.164185	0.62476	T	-0.457805	0.01014	T	-0.411458	0.32056	T	0.0227457157469213	0.00993	T	0.814719	0.47762	T	0.029449383	0.02443	0.04295818	0.05234	0.029449383	0.02442	0.04295818	0.05234	-4.301	0.28191	T	.	.	0.084	0.20819	B	.;.;.;.	.;.;.;.	1.501373	0.19302	14.19	0.99242210944040943	0.56597	0.10679	0.16116	N	AEFBI	0.105615	0.21099	N	-0.612583560552999	0.18565	0.9648751	-0.643368426731154	0.18384	0.9818554	0.0543882488054926	0.14972	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.61	0.166	0.14287	0.806000	0.26786	-3.504000	0.02736	-0.839000	0.02805	0.287000	0.25205	0.000000	0.08366	0.344000	0.25523	0.0:0.4359:0.0:0.5641	9.199	0.36411	889	0.27310	.;.;.;.	.	.	.	.	rs112384084	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	1996.11	75	chr3	195867623	.	C	T	1996.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.11;DP=904;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.428;SOR=0.738	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1139,0,1475	19	0	2	0
chr3	195868688	195868688	C	A	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.G1661T:p.S554I	.	.	412	1109	1	0	0	1	0.000450653	.	.	1479861	not_provided|TNK2-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.995	D	0.854	P	0.001	N	1.000	D	0.55	N	2.88	T	-0.470	T	0.322	T	0.321	1.275	10.16	4.24	1.115	1.124	7.901	0.019	0.193329591814	0.0014	0.000599042	0.0010	0.0005	0.0007	0	0	0.0015	0	0.0004	0.000912	141	154602	rs143787673	0.0016	0.0016	0.0016	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0003	0.0009	0.0002	0	5.33e-05	0.0011	0.0020	0.0017	0.0002	0.0010	0.0010	0.0010	0.0010	0.0016	0.0009	0.0008	0.0014	0.0013	0.0005	0	0.0011	0.0003	0	0	0	0.0016	0.0009	0.0004	0.048	0.65419	D	0.395	0.23164	T	0.169	0.43819	B	0.021	0.32896	B	0.001334	0.39379	N	0.277928	0.991875	0.25813	N	1.245	0.31408	L	2.88	0.74689	T	-1.21	0.42763	N	0.529	0.55799	-0.4703	0.69714	T	0.322	0.69099	T	10	0.01833117	0.00398	T	0.19333	0.86297	D	0.056	0.15993	.	.	0.931693638153	0.93099	0.27595788354954365	0.27508	0.00615469793322	0.00540	0.569695830345	0.48634	T	0.021808	0.38417	T	-0.343328	0.05160	T	-0.279173	0.46889	T	0.0158065043264269	0.00369	T	0.918208	0.70605	D	0.081235856	0.18654	0.073514126	0.15982	0.081235856	0.18654	0.073514126	0.15982	-6.361	0.49204	T	.	.	0.135	0.34449	B	.;.;.;.;.	.;.;.;.;.	2.941767	0.39120	20.9	0.98559044924875805	0.42948	0.88124	0.47915	D	AEFDBI	0.411784	0.48212	N	-0.13815450014847	0.35739	2.056738	-0.0634576475732439	0.36913	2.154436	0.901399826277156	0.26100	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.15	4.24	0.49486	1.233000	0.32250	5.907000	0.50968	0.547000	0.25779	0.327000	0.25564	1.000000	0.68203	0.892000	0.42986	0.0:0.7492:0.1643:0.0865	7.901	0.28898	884	0.28482	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1635.98	72	chr3	195868688	.	C	A	1635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.806e+00;DP=1414;ExcessHet=0.0000;FS=8.461;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=-3.140e-01;SOR=0.271	GT:AD:DP:GQ:PL	0/1:59,64:123:99:1650,0,1525	20	0	1	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	.	432	231	483	376	0	1235	0.727755	.	.	1276892	Hereditary_attention_deficit-hyperactivity_disorder|not_provided	MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37216.98	130	chr4	9783510	.	T	C	37216.98	.	AC=23;AF=0.548;AN=42;BaseQRankSum=0.351;DP=1956;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=23;MLEAF=0.548;MQ=59.95;MQRankSum=0.00;QD=21.71;ReadPosRankSum=-2.420e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/1:66,60:126:99:1498,0,1679	5	7	9	0
chr4	154586438	154586438	T	C	exonic	FGA	.	nonsynonymous SNV	FGA:NM_000508:exon5:c.A991G:p.T331A	Afibrinogenemia, congenital, Autosomal recessive;Amyloidosis, familial visceral, Autosomal dominant;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia, congenital	.	28	792	564	118	20	820	0.33557	.	.	31459	Familial_visceral_amyloidosis,_Ostertag_type|not_provided|Venous_thromboembolism,_susceptibility_to|Congenital_afibrinogenemia|not_specified	MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450|MedGen:C3661900|MedGen:C1858965|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.83	T	0.025	B	0.008	B	0.019	N	1.000	P	-0.46	N	-0.53	T	-1.021	T	0.000	T	0.08	0.222	5.196	-6.65	-0.905	-6.952	1.170	0.092	.	0.2899	0.327077	0.2872	0.3752	0.2388	0.4541	0.3066	0.2510	0.2841	0.3173	0.279718	43245	154602	rs6050	0.2660	0.2660	0.2650	0.2670	0.4674	0.2653	0.2650	0.4618	0.4595	0.3629	0.2417	0.1859	0.4674	0.3153	0.2183	0.2525	0.2547	0.3265	0.2938	0.2939	0.2929	0.2947	0.4451	0.2915	0.2906	0.4299	0.4237	0.3634	0.2572	0.2478	0.1818	0.4451	0.3124	0.2041	0.2543	0.2578	0.3042	0.471	0.11406	T	0.831	0.08052	T	0.025	0.19245	B	0.008	0.13708	B	0.019120	0.01504	N	3.217810	1	0.08975	P	0.12	0.08593	N	-0.53	0.70833	T	-1.1	0.28497	N	0.017	0.00527	-1.0206	0.23519	T	0.000	0.00011	T	9	0.0003001392	0.00010	T	.	.	.	0.092	0.26621	.	.	.	.	0.18455593357657205	0.18373	0.0582763209917	0.06453	0.271667361259	0.06360	T	0.196286	0.55263	T	-0.68717	0.00043	T	-0.616028	0.11501	T	0.00908341073136414	0.00114	T	0.483152	0.14651	T	0.021154398	0.00703	0.027020706	0.00826	0.024007758	0.01191	0.03657319	0.03131	-5.133	0.38253	T	.	.	0.070	0.03625	B	.;.	.;.	-1.623381	0.00229	0.003	0.5951060700015256	0.06241	0.00697	0.02968	N	AEFBHCI	0.231798	0.35497	N	-1.69680907988312	0.00853	0.03690796	-1.74153389084326	0.00965	0.04324642	0.999998855499622	0.74766	0.594549	0.33734	0	0.573888	0.26702	0	0.573888	0.23631	0	0.836244	0.99985	0	.	.	4.95	-6.65	0.01630	-7.952000	0.00035	-20.000000	0.00162	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4201:0.2848:0.1048:0.1903	1.170	0.01712	798	0.45050	.;.	TLR2|DCHS2|PLRG1|FGG	Artery_Tibial|Brain_Cortex|Esophagus_Mucosa|Lung	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.2143	26200.99	35	chr4	154586438	.	T	C	26200.99	.	AC=9;AF=0.214;AN=42;BaseQRankSum=2.01;DP=2232;ExcessHet=0.9430;FS=0.521;InbreedingCoeff=0.0101;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=15.29;ReadPosRankSum=0.073;SOR=0.722	GT:AD:DP:GQ:PL	0/1:128,115:243:99:2985,0,3228	13	1	7	0
chr5	233550	233550	C	T	exonic	SDHA	.	synonymous SNV	SDHA:NM_001294332:exon7:c.C825T:p.G275G	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	YES	0	1458	61	3	0	67	0.0224606	.	.	150956	not_specified|Paragangliomas_5|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Hereditary_pheochromocytoma-paraganglioma|Hereditary_cancer-predisposing_syndrome|Leigh_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	0.00399361	0.0070	0.0008	0.0022	0	0.0017	0.0066	0.0033	0.0220	0.0065523	1013	154602	rs142849100	0.0071	0.0071	0.0065	0.0076	0.0220	0.0070	0.0069	0.0212	0.0209	0.0009	0.0024	0.0246	0.0001	0.0017	0.0127	0.0064	0.0069	0.0220	0.0045	0.0045	0.0047	0.0044	0.0193	0.0043	0.0041	0.0161	0.0150	0.0011	0	0.0025	0.0262	0	0.0008	0.0034	0.0058	0.0085	0.0193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	1235.98	64	chr5	233550	.	C	T	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.360e-01;DP=1051;ExcessHet=0.0000;FS=0.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.90;MQRankSum=1.15;QD=8.24;ReadPosRankSum=2.65;SOR=0.798	GT:AD:DP:GQ:PL	0/1:91,59:150:99:1250,0,2194	20	0	1	0
chr5	256320	256321	CT	-	intronic	SDHA	.	.	.	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	.	2	837	682	1	0	684	0.290076	.	.	297301	not_provided|Leigh_syndrome|Pheochromocytoma|SDHA-related_disorder|Paragangliomas_5|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Hereditary_cancer-predisposing_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|.|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.255e-06	0	0	0	0	1.499e-05	0	0	0.0031889	83	26028	rs372662724	0.0587	0.1488	0.0629	0.0545	0.0712	0.0583	0.0582	0.0708	0.0706	0.0457	0.0112	0.0178	0.0073	0.0091	0.0398	0.0712	0.0454	0.0146	0.0009	0.0171	0.0008	0.0010	0.0012	0.0007	0.0007	0.0009	0.0008	0.0012	0.0012	0.0010	0.0003	0.0004	0.0010	0.0035	0.0007	0.0016	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	5151.27	33	chr5	256319	.	ACT	A	5151.27	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-1.497e+00;DP=2519;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=11;MLEAF=0.262;MQ=58.10;MQRankSum=-1.235e+01;QD=2.88;ReadPosRankSum=0.434;SOR=0.810	GT:AD:DP:GQ:PL	0/1:153,21:174:99:421,0,6352	10	0	11	0
chr5	38528850	38528853	ACAC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	18	95	41	30	42	143	0.347079	.	.	304338	not_specified|Stuve-Wiedemann_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0911	0.0372	0.0443	0.0489	0.0192	0.1161	0.0842	0.0855	0.0001617	25	154602	rs762238623	0.0461	0.0603	0.0450	0.0472	0.0799	0.0457	0.0456	0.0721	0.0691	0.0315	0.0263	0.1433	0.0287	0.0396	0.0799	0.0450	0.0515	0.0496	0.0145	0.0146	0.0151	0.0140	0.0281	0.0140	0.0138	0.0267	0.0262	0.0281	0	0.0095	0.0479	0.0074	0.0073	0.0263	0.0077	0.0180	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	6823.62	31	chr5	38528849	.	GACAC	G,GAC,GACACAC,GACACACAC	6823.62	.	AC=2,15,2,1;AF=0.048,0.357,0.048,0.024;AN=42;BaseQRankSum=-5.370e-01;DP=895;ExcessHet=8.0185;FS=2.856;InbreedingCoeff=-0.3364;MLEAC=2,15,2,1;MLEAF=0.048,0.357,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-5.950e-01;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:20,5,16,0,0:41:99:.:.:467,318,1144,0,674,780,510,1159,838,1341,510,1159,838,1341,1341	4	0	0	0
chr5	138556481	138556481	G	A	exonic	HSPA9	.	synonymous SNV	HSPA9:NM_004134:exon16:c.C1933T:p.L645L,	Anemia, sideroblastic, 4, Autosomal dominant;Even-plus syndrome, Autosomal recessive	.	451	281	404	386	0	1176	0.67664	.	.	1275200	not_provided|Even-plus_syndrome	MedGen:C3661900|MONDO:MONDO:0014801,MedGen:C4225180,OMIM:616854,Orphanet:496751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5140	0.645767	0.4886	0.7500	0.3719	0.7866	0.3593	0.4053	0.4670	0.6394	0.0001153	3	26028	rs10117	0.4321	0.4321	0.4259	0.4383	0.8093	0.4312	0.4308	0.8019	0.7988	0.7504	0.3922	0.4426	0.8093	0.3505	0.5483	0.3963	0.4595	0.6371	0.5194	0.5195	0.5179	0.5211	0.8025	0.5164	0.5151	0.7821	0.7738	0.7485	0.5439	0.4278	0.4443	0.8025	0.3500	0.5476	0.4000	0.5005	0.6459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	30478.64	113	chr5	138556481	.	G	A	30478.64	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-6.300e-02;DP=1997;ExcessHet=2.0051;FS=0.541;InbreedingCoeff=-0.0476;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=17.07;ReadPosRankSum=-5.510e-01;SOR=0.766	GT:AD:DP:GQ:PL	1/1:0,102:102:99:3157,306,0	5	5	11	0
chr5	146878727	146878727	-	GCTGCTGCTGCTGCT	UTR5	PPP2R2B	NM_181675:c.-657_-656insAGCAGCAGCAGCAGC;NM_001271948:c.-22193_-22192insAGCAGCAGCAGCAGC	.	.	Spinocerebellar ataxia 12, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	215310	not_specified|PPP2R2B-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077225	201	26028	rs142461655	0.1009	0.1092	0.0980	0.1038	0.1147	0.1004	0.1001	0.1126	0.1118	0.0771	0.0840	0.1328	0.0832	0.1021	0.1107	0.1002	0.1125	0.1147	0.0968	0.0971	0.0995	0.0940	0.1241	0.0955	0.0949	0.1169	0.1160	0.0773	0.0833	0.0789	0.1165	0.0656	0.0518	0.1069	0.1190	0.0968	0.1241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	21129.44	37	chr5	146878727	.	A	AGCTGCTGCTGCTGCTGCTGCT,AGCT,AGCTGCTGCTGCT,AGCTGCTGCTGCTGCT,AGCTGCT,AGCTGCTGCT	21129.44	.	AC=6,1,4,3,1,7;AF=0.143,0.024,0.095,0.071,0.024,0.167;AN=42;BaseQRankSum=-5.940e-01;DP=1307;ExcessHet=0.2144;FS=0.000;InbreedingCoeff=0.2364;MLEAC=6,1,4,3,1,7;MLEAF=0.143,0.024,0.095,0.071,0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=31.92;ReadPosRankSum=0.364;SOR=0.702	GT:AD:DP:GQ:PL	0/4:32,0,0,0,27,0,0:59:99:1034,1134,2461,1134,2461,2461,1134,2461,2461,2461,0,1327,1327,1327,1246,1134,2461,2461,2461,1327,2461,1134,2461,2461,2461,1327,2461,2461	6	2	1	0
chr5	156326904	156326904	C	G	upstream	SGCD	dist=260	.	.	Cardiomyopathy, dilated, 1L;Muscular dystrophy, limb-girdle, type 2F, Autosomal recessive	.	1256	247	4	15	0	34	0.0643939	.	.	57276	not_specified|Qualitative_or_quantitative_defects_of_delta-sarcoglycan|not_provided	MedGen:CN169374|MONDO:MONDO:0016144,MedGen:C5680806,Orphanet:207070|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0595897	1551	26028	rs7717393	0.1000	0.0042	0.1111	0.0962	0.2500	0.0469	0.0333	0.0451	0.0308	0.2500	.	0	.	0	.	0.1034	0	.	0.0759	0.0759	0.0745	0.0773	0.1877	0.0747	0.0742	0.1775	0.1735	0.0782	0.0647	0.0816	0.0836	0.0472	0.0449	0.0884	0.0717	0.0827	0.1877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	39.04	49	chr5	156326904	.	C	G	39.04	.	AC=2;AF=0.100;AN=20;DP=49;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2864;MLEAC=2;MLEAF=0.100;MQ=60.00;QD=19.52;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	1	0	11
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	559.53	1	chr5	172454519	.	G	C	559.53	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-1.150e+00;DP=106;ExcessHet=0.1908;FS=0.000;InbreedingCoeff=-0.0088;MLEAC=8;MLEAF=0.235;MQ=60.00;MQRankSum=0.00;QD=17.49;ReadPosRankSum=1.15;SOR=0.504	GT:AD:DP:GQ:PL	0/1:1,3:4:30:100,0,30	12	1	4	4
chr6	6174633	6174633	G	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon12:c.C1694T:p.P565L,	Factor XIIIA deficiency, Autosomal recessive	.	4	868	532	118	0	768	0.306709	.	.	252448	not_provided|not_specified|Factor_XIII,_A_subunit,_deficiency_of	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.74	T	0.003	B	0.002	B	0.139	N	1.000	P	-0.55	N	-0.06	T	-1.081	T	0.040	T	0.06	-0.906	0.427	5.78	2.726	2.506	12.334	0.077	.	0.1925	0.240415	0.2160	0.1520	0.0939	0.3199	0.2052	0.2048	0.2313	0.3360	0.209965	32461	154602	rs5982	0.2156	0.2156	0.2117	0.2195	0.3279	0.2149	0.2147	0.3247	0.3234	0.1539	0.1013	0.2210	0.3015	0.2031	0.2525	0.2100	0.2248	0.3279	0.1958	0.1960	0.1933	0.1985	0.3479	0.1940	0.1932	0.3340	0.3284	0.1586	0.2029	0.1354	0.2190	0.3065	0.2133	0.2687	0.2087	0.1957	0.3479	0.729	0.03823	T	0.665	0.06406	T	.	.	.	.	.	.	0.138901	0.18362	N	0.568490	1	0.08975	P	.	.	.	-0.06	0.63568	T	0.31	0.04022	N	0.036	0.01068	-1.0809	0.07175	T	0.040	0.17149	T	9	0.0069898665	0.00159	T	.	.	.	0.077	0.22490	.	.	.	.	0.5783212436962746	0.57761	0.227437257193	0.25295	0.354513347149	0.18584	T	.	.	.	-0.666851	0.00057	T	-0.586841	0.13941	T	0.0120128747694183	0.00189	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05447	B	.	.	2.677165	0.34918	19.76	0.3814487705666012	0.02555	0.45118	0.27468	N	AEFDGBI	0.423562	0.48910	N	-0.656020314291582	0.17286	0.8881491	-0.481416803574241	0.22666	1.232241	0.982481270091029	0.30405	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	2.576000	0.45698	8.492000	0.77332	0.665000	0.62972	0.643000	0.28111	1.000000	0.68203	0.253000	0.23340	0.0763:0.0:0.9237:0.0	12.334	0.54383	946	0.12043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	28918.26	37	chr6	6174633	.	G	A	28918.26	.	AC=11;AF=0.262;AN=42;BaseQRankSum=2.29;DP=2169;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1378;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=17.37;ReadPosRankSum=0.505;SOR=0.737	GT:AD:DP:GQ:PL	0/1:79,129:208:99:3466,0,1525	12	2	7	0
chr6	7581408	7581408	G	A	exonic	DSP	.	nonsynonymous SNV	DSP:NM_004415:exon23:c.G5218A:p.E1740K,	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	.	0	1503	19	0	0	19	0.00628099	.	.	54093	Migraine|Primary_dilated_cardiomyopathy|Hemiplegia|Lethal_acantholytic_epidermolysis_bullosa|Arrhythmogenic_right_ventricular_dysplasia_8|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Long_QT_syndrome|DSP-related_disorder|Cardiomyopathy|Woolly_hair-skin_fragility_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy|not_provided|Cardiovascular_phenotype|not_specified	Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931|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|Human_Phenotype_Ontology:HP:0002301,MONDO:MONDO:0001170,MedGen:C0018991|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.962	D	0.173	B	0.000	D	1.000	D	1.1	L	-0.85	T	-0.875	T	0.140	T	0.729	1.687	11.60	5.09	1.496	3.140	17.082	0.307	0.0332187332085	0.0009	0.000399361	0.0012	0	0.0020	0	0.0003	0.0016	0.0022	0.0009	0.0012872	199	154602	rs142885240	0.0016	0.0016	0.0016	0.0016	0.0173	0.0015	0.0015	0.0146	0.0136	0.0004	0.0026	0.0013	0	0.0002	0.0173	0.0017	0.0016	0.0009	0.0010	0.0010	0.0010	0.0009	0.0023	0.0008	0.0008	0.0017	0.0015	0.0003	0	0.0023	0	0	9.42e-05	0.0170	0.0013	0	0.0004	0.025	0.47320	D	0.129	0.34837	T	0.962	0.55554	D	0.173	0.35463	B	0.000161	0.49130	D	0.087662	1	0.81001	D	1.39	0.34934	L	-0.85	0.74371	T	-1.58	0.38151	N	0.713	0.71587	-0.8752	0.50135	T	0.140	0.45997	T	10	0.08162171	0.13382	T	0.033219	0.54826	D	0.307	0.62838	.	.	0.76800127124	0.76587	0.27073512233209274	0.26986	0.339590473193	0.35905	0.54276496172	0.44836	T	0.284778	0.65756	T	-0.183567	0.23206	T	-0.041384	0.67607	D	0.0342431260818645	0.02679	T	0.854215	0.54045	D	0.14379038	0.33033	0.15472127	0.36300	0.15775715	0.35529	0.17242497	0.39495	-4.402	0.29585	T	0.5266939957757211	0.59815	0.093	0.14108	B	.	.	3.094430	0.41680	21.4	0.99783584082301591	0.87043	0.93839	0.59340	D	AEFDGBHI	0.452454	0.50600	N	-0.0809282533132905	0.38228	2.235856	-0.0719631655036133	0.36554	2.128813	0.999999997193261	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	5.98	5.09	0.68647	3.213000	0.50855	5.828000	0.50139	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:0.1268:0.8732:0.0	17.082	0.86476	384	0.83545	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	6741.98	45	chr6	7581408	.	G	A	6741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=1488;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=1.43;SOR=0.756	GT:AD:DP:GQ:PL	0/1:292,272:564:99:6756,0,6945	20	0	1	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	.	5	101	508	907	1	2323	0.919968	.	.	54134	Lethal_acantholytic_epidermolysis_bullosa|Woolly_hair-skin_fragility_syndrome|not_provided|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Keratosis_palmoplantaris_striata_2|DSP-related_disorder|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|Cardiovascular_phenotype|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908|.|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.6429	175804.2	449	chr6	7585734	.	G	C	175804.2	.	AC=27;AF=0.643;AN=42;BaseQRankSum=4.06;DP=8806;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=20.84;ReadPosRankSum=0.224;SOR=0.645	GT:AD:DP:GQ:PL	1/1:0,453:453:99:15489,1360,0	1	7	13	0
chr6	16327685	16327687	TGC	-	exonic	ATXN1	.	nonframeshift deletion	ATXN1:NM_001128164:exon7:c.624_626del:p.Q208del	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	207394	ATXN1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001423	22	154602	rs797045409	0.0424	0.0556	0.0408	0.0441	0.3444	0.0422	0.0420	0.3389	0.3366	0.0367	0.1010	0.0204	0.3444	0.0672	0.0337	0.0262	0.0548	0.1071	0.0694	0.0705	0.0647	0.0744	0.3715	0.0682	0.0677	0.3558	0.3495	0.0558	0.1998	0.1241	0.0327	0.3715	0.0848	0.0426	0.0397	0.0626	0.1442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	0/4:32,0,0,0,28,0:60:99:977,1074,2292,1074,2292,2292,1074,2292,2292,2292,0,1218,1218,1218,1134,1074,2292,2292,2292,1218,2292	9	0	3	0
chr6	42963890	42963893	TTTA	-	UTR3	PEX6	NM_001316313:c.*445_*442delTAAA;NM_000287:c.*445_*442delTAAA	.	.	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	.	639	398	139	346	0	831	0.510756	.	.	300174	Peroxisome_biogenesis_disorder|Peroxisome_biogenesis_disorder_1A_(Zellweger)|PEX6_POLYMORPHISM|not_specified|not_provided	MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.647364	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs144286892	0.5727	0.5907	0.5681	0.5768	0.9184	0.5710	0.5703	0.9056	0.9003	0.9184	0.5473	0.5051	0.3599	0.5005	0.6168	0.5761	0.5928	0.6450	0.6587	0.6629	0.6658	0.6513	0.9162	0.6553	0.6538	0.9083	0.9051	0.9162	0.6826	0.5830	0.5087	0.3234	0.5061	0.5810	0.5796	0.6463	0.6385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	4501.24	9	chr6	42963889	.	GTTTA	G	4501.24	.	AC=23;AF=0.548;AN=42;BaseQRankSum=-6.160e-01;DP=196;ExcessHet=0.0777;FS=3.019;InbreedingCoeff=0.2387;MLEAC=24;MLEAF=0.571;MQ=59.96;MQRankSum=0.00;QD=31.92;ReadPosRankSum=-1.440e+00;SOR=1.090	GT:AD:DP:GQ:PL	1/1:0,7:7:21:315,21,0	6	8	7	0
chr6	52025360	52025360	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon32:c.G4450A:p.A1484T	Polycystic kidney and hepatic disease, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	493120	not_provided|Autosomal_recessive_polycystic_kidney_disease	MedGen:C3661900|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.77	T	0.002	B	0.008	B	0.412	N	1.000	N	-1.24	N	-2.1	D	-0.846	T	0.075	T	0.056	0.285	5.544	-3.28	-0.133	-0.615	4.815	0.215	0.0306340220002	0.0002	0.000199681	4.145e-05	0.0004	8.654e-05	0	0	0	0	0	4.53e-05	7	154602	rs144905283	4.174e-05	4.173e-05	5.038e-05	3.302e-05	0.0013	3.311e-05	3.002e-05	0.0010	0.0009	0.0013	0.0001	0	0	0	0	1.799e-06	0.0001	0	0.0003	0.0003	0.0004	0.0003	0.0012	0.0003	0.0002	0.0009	0.0008	0.0012	0	0.0002	0	0	0	0	0	0	0	0.78	0.03289	T	1.0	0.01155	T	0.002	0.09854	B	0.001	0.13708	B	0.411809	0.12987	N	0.750850	1	0.08975	N	-0.945	0.01271	N	-2.1	0.87671	D	-0.47	0.17210	N	0.065	0.04547	-0.8458	0.52256	T	0.075	0.30335	T	10	0.017817289	0.00383	T	0.030634	0.52905	D	0.215	0.50805	.	.	0.581280949539	0.57799	0.19834101449503283	0.19751	0.0586537782296	0.06507	0.236583143473	0.02491	T	0.126816	0.45344	T	-0.516443	0.00461	T	-0.539239	0.18372	T	0.004966131444349	0.00053	T	0.541546	0.18382	T	0.032103617	0.03173	0.040385116	0.04352	0.026514502	0.01718	0.04287977	0.05206	-4.214	0.26954	T	0.08327343681140388	0.04480	0.064	0.01668	B	.;.	.;.	-0.619294	0.01519	0.097	0.75831361915125528	0.11228	0.01189	0.04253	N	AEFGBI	0.042774	0.06680	N	-1.4007629378744	0.02633	0.1165129	-1.27954527033694	0.04707	0.222687	0.0728189343758238	0.15613	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.61	-3.28	0.04721	-0.610000	0.05724	-0.156000	0.11370	-0.838000	0.02813	0.000000	0.06391	0.000000	0.08366	0.554000	0.30269	0.3299:0.3497:0.0:0.3204	4.815	0.12728	775	0.48401	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1565.98	34	chr6	52025360	.	C	T	1565.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.236e+00;DP=875;ExcessHet=0.0000;FS=0.668;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=-1.820e-01;SOR=0.826	GT:AD:DP:GQ:PL	0/1:62,62:124:99:1580,0,1649	20	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,26,0:66:99:0|1:80007990_G_C:678,0,1527,797,1602,2398:80007990	1	0	9	7
chr6	80007992	80007992	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G323C:p.S108T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.986	D	0.852	P	0.000	D	0.593	D	1.955	M	-2.63	D	0.046	D	0.635	D	0.39	3.677	18.69	3.86	0.842	5.340	8.738	0.403	0.0853925880234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1707	0.2059	0.1863	0.1558	0.2162	0.1701	0.1698	0.2154	0.2150	0.1392	0.0055	0.0504	0.0230	0.0017	0.0737	0.2162	0.1283	0.0500	0	3.307e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.144	0.59732	T	0.966	0.56202	D	0.631	0.51788	P	0.000000	0.84330	D	0.071194	0.593197	0.32474	D	2.595	0.75868	M	-2.63	0.90083	D	-1.03	0.49187	N	0.442	0.48042	0.046	0.83166	D	0.635	0.87219	D	10	0.3497452	0.51861	T	0.085393	0.74523	D	0.403	0.71636	0.228	0.15406	0.781371246216	0.77935	0.3376395449906995	0.33676	0.281122348813	0.30588	0.551896691322	0.46125	T	0.092565	0.57262	T	0.136052	0.67947	D	-0.0423466	0.67543	D	0.917783379554749	0.57577	D	0.631037	0.24617	T	0.7190072	0.79106	0.41570723	0.65677	0.7190072	0.79108	0.41570723	0.65677	-6.628	0.51765	T	.	.	0.218	0.44758	B	.;.;.;.;.;.	.;.;.;.;.;.	4.204753	0.63475	24.6	0.99575890361854102	0.72682	0.97332	0.74083	D	AEFBI	0.519272	0.54462	D	0.42824476472478	0.62980	4.523298	0.423839017229321	0.63052	4.531729	0.99999023762309	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	3.86	0.43689	5.209000	0.65041	8.593000	0.77695	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1406:0.1265:0.7329:0.0	8.738	0.33699	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,26,4:65:99:1|0:80007990_G_C:973,0,1451,769,852,1554:80007990	2	0	13	4
chr6	131847857	131847860	GTGT	-	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	.	64	102	8	11	41	71	0.128205	.	.	306033	Hypophosphatemic_Rickets,_Recessive|not_specified|not_provided|Arterial_calcification,_generalized,_of_infancy,_1	MedGen:CN239452|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs373838049	0.0474	0.0578	0.0472	0.0476	0.1058	0.0471	0.0469	0.1024	0.1009	0.1058	0.0777	0.0304	0.0231	0.0959	0.0366	0.0445	0.0483	0.0343	0.0671	0.0670	0.0676	0.0665	0.1205	0.0659	0.0654	0.1175	0.1162	0.1205	0.0594	0.0647	0.0210	0.0188	0.0760	0.0654	0.0467	0.0560	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	4955.76	13	chr6	131847856	.	GGTGT	GGT,GGTGTGT,GGTGTGTGT,G,GTTGTGTGT,*	4955.76	.	AC=7,5,1,4,1,1;AF=0.167,0.119,0.024,0.095,0.024,0.024;AN=42;BaseQRankSum=0.318;DP=762;ExcessHet=2.1081;FS=0.398;InbreedingCoeff=-0.0365;MLEAC=7,5,1,4,1,1;MLEAF=0.167,0.119,0.024,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=14.97;ReadPosRankSum=0.189;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:9,0,17,0,0,0,0:26:99:.:.:343,371,593,0,223,173,371,593,223,593,371,593,223,593,593,371,593,223,593,593,593,371,593,223,593,593,593,593	6	0	4	0
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A	.	.	426	313	516	267	0	1050	0.626492	.	.	29790	SUPEROXIDE_DISMUTASE_2_POLYMORPHISM|Microvascular_complications_of_diabetes,_susceptibility_to,_6	.|MONDO:MONDO:0012970,MedGen:C2675128,OMIM:612634	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.73	T	0.024	B	0.014	B	0.003	N	0.812	P	.	.	2.8	T	-0.931	T	0.008	T	0.209	1.174	9.777	3.08	0.205	2.565	9.062	0.048	.	0.4731	0.410743	0.5024	0.4521	0.6492	0.1596	0.5033	0.5162	0.4902	0.5375	0.0001153	3	26028	rs4880	0.4921	0.4920	0.4930	0.4912	0.6131	0.4912	0.4908	0.6070	0.6045	0.4286	0.6131	0.5060	0.1309	0.4807	0.4419	0.5013	0.4763	0.5191	0.4704	0.4704	0.4750	0.4656	0.5368	0.4675	0.4663	0.5271	0.5231	0.4245	0.4901	0.5368	0.5193	0.1435	0.4668	0.4658	0.5033	0.4693	0.5118	0.926	0.09806	T	0.979	0.20680	T	0.024	0.19075	B	0.014	0.16862	B	0.003125	0.35389	N	0.321860	1	0.28987	P	.	.	.	2.8	0.17923	T	0.35	0.06138	N	0.034	0.02964	-0.9308	0.44021	T	0.008	0.02679	T	8	3.9671322e-05	0.00008	T	.	.	.	0.048	0.13305	.	.	.	.	0.24148455001478597	0.24062	0.559626915364	0.52497	0.639073014259	0.58432	T	0.006216	0.10632	T	-0.680986	0.00047	T	-0.607145	0.12218	T	0.00926767202390716	0.00118	T	0.00962761	0.00101	T	0.019719824	0.00509	0.04335931	0.05377	0.019719824	0.00508	0.04335931	0.05376	-2.567	0.10127	T	.	.	0.065	0.07412	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.792224	0.11628	8.214	0.81617120455707348	0.13775	0.13403	0.17836	N	ALL	0.032084	0.03557	N	-0.854084909372284	0.11949	0.5796162	-0.812104859326894	0.14202	0.7408959	0.999999999993235	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.08	0.34576	2.202000	0.42377	4.081000	0.41738	-0.176000	0.10722	0.649000	0.28163	0.999000	0.35428	0.111000	0.18785	0.1374:0.121:0.7416:0.0	9.062	0.35603	725	0.54935	.;.;.;.;.;.;.;.	RP3-393E18.2|MRPL18|RP3-393E18.2|WTAP|MRPL18|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|MRPL18|PNLDC1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2|ACAT2|MRPL18|MRPL18|RP3-393E18.2|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|MRPL18|SOD2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|ACAT2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|RP3-393E18.2|HNRNPH1P1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Brain_Hippocampus|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood	SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|MRPL18	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis	rs4880	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.4524	18083.6	58	chr6	159692840	.	A	G	18083.6	.	AC=19;AF=0.452;AN=42;BaseQRankSum=1.17;DP=1182;ExcessHet=2.1081;FS=0.000;InbreedingCoeff=-0.0572;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=19.59;ReadPosRankSum=0.348;SOR=0.714	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1320,0,935	6	4	11	0
chr6	170561964	170561964	G	A	exonic	TBP	.	synonymous SNV	TBP:NM_001172085:exon2:c.G168A:p.Q56Q	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	136006	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0538	0.0989	0.0432	0.0847	0.0282	0.0395	0.0472	0.0948	0.0001537	4	26028	rs112083427	0.2067	0.2951	0.1908	0.2228	0.4566	0.2057	0.2053	0.4473	0.4435	0.2151	0.4566	0.3745	0.4431	0.4300	0.2950	0.1554	0.2683	0.3748	0.2313	0.2572	0.2287	0.2342	0.3402	0.2291	0.2282	0.3316	0.3280	0.1263	0.1041	0.3402	0.2648	0.2368	0.3166	0.3025	0.2555	0.2464	0.2883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,53:90:99:1|0:170561949_GCAA_G:1600,1678,4337,0,1474,1076:170561949	1	1	3	2
chr7	21601138	21601138	C	T	exonic	DNAH11	.	synonymous SNV	DNAH11:NM_001277115:exon17:c.C3384T:p.S1128S,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	YES	0	1510	12	0	0	12	0.00395778	.	.	221682	Primary_ciliary_dyskinesia|not_provided|not_specified	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00299521	0.0011	0.0068	0.0010	0	0	0.0007	0.0033	0.0003	0.0010349	160	154602	rs79955190	0.0005	0.0005	0.0006	0.0005	0.0108	0.0005	0.0005	0.0086	0.0079	0.0058	0.0011	3.843e-05	0	0	0.0108	0.0003	0.0014	0.0004	0.0022	0.0022	0.0023	0.0021	0.0067	0.0020	0.0019	0.0061	0.0058	0.0067	0	0.0010	0	0	0	0.0068	0.0004	0.0024	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	1	1	0.02381	2197.98	41	chr7	21601138	.	C	T	2197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.085;DP=951;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=-9.730e-01;SOR=0.666	GT:AD:DP:GQ:PL	0/1:75,83:158:99:2212,0,1924	20	0	1	0
chr7	21655820	21655820	T	C	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	6	1505	11	0	0	11	0.00364118	0	0.004	252698	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00119808	0.0007	0.0001	0.0010	0	0	0.0009	0.0026	0.0003	0.0005304	82	154602	rs141572016	0.0004	0.0004	0.0004	0.0004	0.0108	0.0004	0.0004	0.0086	0.0078	0.0005	0.0006	0.0007	0	0	0.0108	0.0003	0.0011	0.0004	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	4.811e-05	0	0.0004	0.0006	0	0	0.0068	0.0004	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1566.98	35	chr7	21655820	.	T	C	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.941;DP=946;ExcessHet=0.0000;FS=0.733;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-1.340e-01;SOR=0.816	GT:AD:DP:GQ:PL	0/1:52,62:114:99:1581,0,1222	20	0	1	0
chr7	21658835	21658835	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon30:c.A5132G:p.Q1711R,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	YES	4	1506	12	0	0	12	0.00396825	.	.	221686	not_specified|DNAH11-related_disorder|Primary_ciliary_dyskinesia|not_provided	MedGen:CN169374|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.647	N	1.000	N	.	.	0.26	T	-1.038	T	0.053	T	0.088	-1.504	0.017	2.36	0.520	0.633	8.451	0.072	0.00670184145786	0.0007	0.00119808	0.0012	0.0002	0.0028	0	0	0.0018	0.0025	0.0004	0.0005498	85	154602	rs189432084	0.0005	0.0005	0.0004	0.0005	0.0108	0.0004	0.0004	0.0086	0.0079	0.0006	0.0008	0.0007	0	0	0.0108	0.0004	0.0012	0.0004	0.0003	0.0003	0.0004	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	4.813e-05	0	0.0004	0.0006	0	0	0.0068	0.0005	0.0009	0.0002	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.647012	0.10547	N	0.856163	1	0.08975	N	.	.	.	0.26	0.59314	T	0.99	0.01428	N	0.206	0.24883	-1.0384	0.17802	T	0.053	0.22617	T	9	0.0073883235	0.00168	T	0.006702	0.17699	T	0.072	0.21020	.	.	0.353974658523	0.35008	0.18141748728031518	0.18060	.	.	0.309853613377	0.11885	T	0.068139	0.33380	T	-0.528527	0.00392	T	-0.625883	0.10728	T	0.00801070365834025	0.00095	T	0.692631	0.30204	T	0.09059655	0.21204	0.1836126	0.41361	0.09059655	0.21204	0.1836126	0.41360	-2.627	0.06711	T	0.06823185531518619	0.02462	0.062	0.01215	B	.;.;.	.;.;.	0.683830	0.10526	7.236	0.16663141205606449	0.00456	0.10226	0.15791	N	AEFI	0.069758	0.13821	N	-0.870129291932799	0.11557	0.5584072	-0.82717253243323	0.13837	0.7199826	2.3902980708693E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.92	2.36	0.28258	0.471000	0.21811	2.988000	0.35869	0.731000	0.85647	0.000000	0.06391	0.065000	0.22112	0.621000	0.31922	0.641:0.0:0.359:0.0	8.451	0.32030	706	0.57215	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	550.98	33	chr7	21658835	.	A	G	550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.030e-01;DP=737;ExcessHet=0.0000;FS=1.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=1.13;SOR=1.075	GT:AD:DP:GQ:PL	0/1:32,24:56:99:565,0,826	20	0	1	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	5	243	697	577	0	1851	0.792041	.	.	195811	Primary_ciliary_dyskinesia_7|not_provided|DNAH11-related_disorder	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	81624.22	113	chr7	21867834	.	G	GT	81624.22	.	AC=33;AF=0.786;AN=42;BaseQRankSum=0.110;DP=2420;ExcessHet=4.7172;FS=0.684;InbreedingCoeff=-0.2727;MLEAC=33;MLEAF=0.786;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=0.921;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,97:97:99:1|1:21867834_G_GT:4237,291,0:21867834	0	12	9	0
chr7	30633897	30633898	AA	-	UTR3	GARS1	NM_001316772:c.*37_*38delAA;NM_002047:c.*37_*38delAA	.	.	.	.	338	128	20	2	1034	1058	0.0857143	.	.	311092	Distal_spinal_muscular_atrophy|Peripheral_axonal_neuropathy|not_provided|Charcot-Marie-Tooth_disease_type_2	MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1458	0.1444	0.1211	0.1934	0.0825	0.1342	0.1377	0.1975	0.001921	50	26028	rs1264036389	0.1231	0.1309	0.1212	0.1251	0.1942	0.1226	0.1224	0.1901	0.1884	0.1278	0.0990	0.1304	0.1942	0.0985	0.1716	0.1165	0.1342	0.1800	0.1053	0.1040	0.1039	0.1069	0.2053	0.1039	0.1033	0.1943	0.1899	0.1248	0.0146	0.0971	0.0960	0.1870	0.0699	0.1181	0.0886	0.1355	0.2053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	10366.48	21	chr7	30633896	.	TAA	T,TA	10366.48	.	AC=12,18;AF=0.300,0.450;AN=40;BaseQRankSum=-5.890e-01;DP=815;ExcessHet=3.2961;FS=0.722;InbreedingCoeff=-0.2573;MLEAC=12,18;MLEAF=0.300,0.450;MQ=60.00;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.194;SOR=0.739	GT:AD:DP:GQ:PL	0/2:14,0,9:23:99:149,191,499,0,308,281	0	1	3	1
chr7	92499848	92499849	AA	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	6	11	58	125	26	334	0.933333	.	.	191766	Zellweger_spectrum_disorders|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1286	0.0604	0.1169	0.0878	0.0643	0.1272	0.1007	0.2324	0.0003458	9	26028	rs769875811	0.0771	0.1651	0.0762	0.0779	0.1028	0.0766	0.0764	0.1005	0.0995	0.0376	0.0805	0.0777	0.0503	0.0821	0.0547	0.0775	0.0760	0.1028	0.0033	0.0055	0.0035	0.0031	0.0048	0.0031	0.0030	0.0043	0.0042	0.0012	0	0.0035	0.0006	0.0002	0.0065	0	0.0048	0.0025	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	22564.18	63	chr7	92499847	.	CAA	C,CA	22564.18	.	AC=1,34;AF=0.024,0.810;AN=42;BaseQRankSum=-6.040e-01;DP=1349;ExcessHet=0.2785;FS=0.000;InbreedingCoeff=0.1429;MLEAC=1,34;MLEAF=0.024,0.810;MQ=60.00;MQRankSum=0.00;QD=22.30;ReadPosRankSum=-1.160e-01;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,4,40:44:19:.:.:1135,1001,1007,129,19,0	1	0	0	0
chr7	103989357	103989359	GCC	-	UTR5	RELN	NM_173054:c.-1_-3delGGC;NM_005045:c.-1_-3delGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	301371	Lissencephaly,_Recessive|not_provided	MedGen:CN239458|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs886061864	0.0017	0.0062	0.0017	0.0017	0.0071	0.0016	0.0016	0.0062	0.0058	0.0047	0.0071	0.0034	0.0030	0.0013	0.0015	0.0013	0.0026	0.0027	0.0016	0.0016	0.0015	0.0017	0.0040	0.0014	0.0014	0.0026	0.0025	0.0031	0	0.0022	0	0.0040	0.0003	0.0036	0.0006	0.0034	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	39463.68	54	chr7	103989356	.	TGCC	TGCCGCCGCC,T,TGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCCGCCGCC,TGCCGCCGCCGCCGCC	39463.68	.	AC=26,1,4,1,2;AF=0.619,0.024,0.095,0.024,0.048;AN=42;BaseQRankSum=-4.950e-01;DP=1873;ExcessHet=3.5521;FS=0.662;InbreedingCoeff=-0.2353;MLEAC=25,1,4,1,2;MLEAF=0.595,0.024,0.095,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=33.19;ReadPosRankSum=-4.170e-01;SOR=0.759	GT:AD:DP:GQ:PL	0/1:29,35,0,0,0,0:64:99:1335,0,1105,1425,1210,2635,1425,1210,2635,2635,1425,1210,2635,2635,2635,1425,1210,2635,2635,2635,2635	0	9	5	0
chr7	113878379	113878379	C	A	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.G2713T:p.D905Y,	Insulin resistance, severe, digenic, Autosomal dominant	.	11	895	492	124	0	740	0.29249	.	.	23745	PPP1R3A-related_disorder|not_provided|Type_2_diabetes_mellitus|Insulin_resistance,_susceptibility_to	.|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|MedGen:C1852091	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.976	D	0.72	P	0.025	N	0.836	P	1.78	L	2.05	T	-0.998	T	0.000	T	0.447	1.893	12.29	5.64	2.646	3.209	11.640	0.081	.	0.1353	0.308706	0.2191	0.1986	0.2675	0.6952	0.2100	0.1107	0.2252	0.3903	0.206175	31875	154602	rs1799999	0.1416	0.1416	0.1346	0.1487	0.6879	0.1411	0.1409	0.6811	0.6783	0.1968	0.2570	0.2156	0.6879	0.1937	0.1652	0.0908	0.1697	0.3887	0.1744	0.1748	0.1615	0.1879	0.6706	0.1726	0.1719	0.6519	0.6443	0.1934	0.1220	0.2144	0.2066	0.6706	0.2038	0.1429	0.0950	0.1795	0.3984	0.0	0.91255	D	0.014	0.62352	D	0.976	0.58310	D	0.72	0.54860	P	0.024511	0.26249	N	0.367148	0.836062	0.28695	P	1.83	0.48079	L	2.05	0.20664	T	-2.39	0.52612	N	0.15	0.15328	-0.9976	0.30590	T	0.000	0.00011	T	9	8.817586e-06	0.00003	T	.	.	.	0.081	0.23632	.	.	.	.	0.3683814514852102	0.36752	0.306500050531	0.32949	0.278542757034	0.07290	T	0.186598	0.53994	T	-0.528206	0.00393	T	-0.387688	0.34823	T	0.0438705692398417	0.04397	T	0.716128	0.32863	T	0.20416406	0.42517	0.2524535	0.50875	0.20416406	0.42517	0.2524535	0.50874	-4.861	0.35294	T	.	.	0.137	0.29968	B	.	.	3.069077	0.41247	21.3	0.99319784506066688	0.59355	0.95612	0.65420	D	AEFI	0.303249	0.41127	N	0.499889304589376	0.67083	5.034699	0.49068893142535	0.67370	5.075107	0.0140741971558907	0.12550	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	3.235000	0.51027	3.309000	0.37448	0.580000	0.29708	1.000000	0.71638	0.924000	0.28388	0.195000	0.21750	0.0:0.9117:0.0:0.0883	11.640	0.50488	802	0.44336	.	.	.	.	.	.	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	0.119	10951.44	151	chr7	113878379	.	C	A	10951.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-2.165e+00;DP=1495;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=13.10;ReadPosRankSum=-1.178e+00;SOR=0.712	GT:AD:DP:GQ:PL	0/1:90,86:176:99:2312,0,2442	16	0	5	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P,	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	.	2	82	476	962	0	2400	0.936037	.	.	135324	not_specified|Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.0	B	.	.	1.000	P	1.15	L	-3.2	D	-0.966	T	0.000	T	0.052	-0.251	2.795	-3.35	-1.287	-1.288	2.721	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.7619	57575.44	141	chr7	127611134	.	T	G	57575.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=0.218;DP=2509;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=23.77;ReadPosRankSum=0.240;SOR=0.702	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1432,0,1767	1	12	8	0
chr7	128850063	128850063	C	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001458:exon31:c.C5287A:p.P1763T,	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1806144	Cardiovascular_phenotype|Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Dilated_Cardiomyopathy,_Dominant|Hypertrophic_cardiomyopathy_26|Myofibrillar_myopathy_5	MedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MedGen:CN239310|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.39	T	0.01	B	0.028	B	0.027	N	1.000	D	0	N	-1.91	D	-0.578	T	0.343	T	0.456	0.802	8.218	5.09	2.361	2.582	15.403	0.247	0.093354626898	.	.	5.88e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs749076427	1.225e-05	1.437e-05	8.543e-06	1.604e-05	0.0002	7.46e-06	6.1e-06	0.0001	8.462e-05	0	0	0	0	0	0	9.261e-07	3.444e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.555	0.06482	T	0.544	0.09621	T	0.01	0.15535	B	0.028	0.21332	B	0.026609	0.25890	N	0.387006	0.996786	0.81001	D	0	0.06538	N	-1.91	0.84701	D	-1.09	0.28290	N	0.323	0.36359	-0.5781	0.65692	T	0.343	0.70827	T	10	0.12545553	0.23841	T	0.093355	0.76058	D	0.247	0.55478	0.125	0.03095	0.575652722498	0.57233	0.3925966588220428	0.39174	0.308647816877	0.33177	0.644808411598	0.59248	T	0.23569	0.60301	T	-0.142571	0.29483	T	-0.205901	0.54087	T	0.0723000890433265	0.08971	T	0.746025	0.36642	T	0.06878267	0.15012	0.06515891	0.13168	0.06878267	0.15012	0.06515891	0.13167	-4.741	0.33896	T	.	.	0.085	0.10014	B	.	.	3.401989	0.47155	22.4	0.85339962569404049	0.15832	0.95311	0.64228	D	AEFBI	0.307122	0.41408	N	-0.247519225361881	0.31201	1.747267	-0.0273728646916988	0.38484	2.267926	0.999607765381834	0.40866	0.706548	0.73137	0	0.588015	0.36545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	1.182000	0.31639	3.197000	0.36732	0.599000	0.40250	0.596000	0.27714	1.000000	0.68203	0.799000	0.37691	0.0:1.0:0.0:0.0	15.403	0.74580	587	0.69154	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1256.98	35	chr7	128850063	.	C	A	1256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.061e+00;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=1.11;SOR=0.732	GT:AD:DP:GQ:PL	0/1:36,51:87:99:1271,0,865	20	0	1	0
chr7	128957286	128957286	G	A	exonic	TNPO3	.	nonsynonymous SNV	TNPO3:NM_001191028:exon21:c.C2549T:p.A850V	Muscular dystrophy, limb-girdle, type 1F, Autosomal dominant	.	434	1084	4	0	0	4	0.00184162	.	.	266683	not_provided|Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1F|TNPO3-related_disorder	MedGen:C3661900|MONDO:MONDO:0012034,MedGen:C1842062,OMIM:608423,Orphanet:55595|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.75	T	0.999	D	0.942	D	0.000	D	1.000	D	1.545	L	.	.	-0.776	T	0.191	T	0.606	3.920	19.94	4.03	0.816	9.028	11.127	0.214	0.0108967158709	0.0002	0.000399361	0.0005	0.0003	0.0012	0	0	0.0005	0.0033	0.0005	0.0004916	76	154602	rs61756249	0.0004	0.0004	0.0004	0.0004	0.0118	0.0003	0.0003	0.0095	0.0087	8.962e-05	0.0017	0.0011	0	0	0.0118	0.0002	0.0009	0.0005	0.0007	0.0007	0.0005	0.0008	0.0032	0.0006	0.0005	0.0025	0.0022	0.0001	0	0.0032	0.0006	0	0	0.0170	0.0004	0.0033	0.0012	0.015	0.56456	D	0.032	0.54159	D	0.861	0.77913	P	0.275	0.67772	B	0.000000	0.84330	D	0.000000	0.999946	0.51968	D	2.05	0.56469	M	.	.	.	-2.11	0.48020	N	0.807	0.80278	-0.7760	0.56526	T	0.191	0.54315	T	9	0.057059377	0.06493	T	0.010897	0.27957	T	0.214	0.50650	.	.	0.705095963704	0.70253	0.6612150767598838	0.66058	0.936315210153	0.72031	0.859403133392	0.91023	D	0.090954	0.38695	T	-0.211463	0.19174	T	-0.089759	0.64180	T	0.0600704327191556	0.07180	T	0.941406	0.78138	D	0.47150517	0.65383	0.22902928	0.47963	0.45484588	0.64348	0.24757326	0.50289	-6.776	0.52380	T	.	.	0.423	0.67952	A	.;.;.;.;.	.;.;.;.;.	4.327387	0.66282	24.9	0.99788819188506084	0.87484	0.96986	0.72034	D	AEFBCI	0.789753	0.71885	D	0.342585578579552	0.58348	4.006607	0.392150897739389	0.61080	4.303278	0.999663631008767	0.41534	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	4.03	0.46115	9.207000	0.94192	9.859000	0.82043	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1387:0.717:0.1443	11.127	0.47547	503	0.75780	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1703.11	33	chr7	128957286	.	G	A	1703.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.770e-01;DP=811;ExcessHet=0.1072;FS=8.119;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=1.08;SOR=0.973	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1049,0,1119	19	0	2	0
chr7	131505863	131505863	C	T	intronic	PODXL	.	.	.	.	.	.	.	.	.	.	.	.	0.6426	0.532	2137883	Inborn_genetic_diseases|not_provided|PODXL-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0022	0	0	0	0	0.0001229	19	154602	rs201551993	2.992e-05	3.42e-05	2.532e-05	3.464e-05	0.0009	2.24e-05	1.987e-05	0.0007	0.0006	0	0	0	0.0009	0	0	9.242e-07	8.58e-05	3.769e-05	6.566e-05	6.562e-05	3.854e-05	9.4e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2593.39	62	chr7	131505863	.	C	T	2593.39	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.173e+00;DP=1634;ExcessHet=17.4423;FS=182.300;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.09;ReadPosRankSum=0.956;SOR=11.937	GT:AD:DP:GQ:PL	0/1:61,28:89:99:158,0,1068	6	0	15	0
chr8	22163910	22163910	G	C	exonic	SFTPC	.	nonsynonymous SNV	SFTPC:NM_001317779:exon4:c.G304C:p.A102P	Surfactant metabolism dysfunction, pulmonary, 2, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	304877	not_specified|Interstitial_lung_disease_2|not_provided|Surfactant_metabolism_dysfunction,_pulmonary,_2	MedGen:CN169374|MONDO:MONDO:0800029,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126|MedGen:C3661900|MONDO:MONDO:0024465,MedGen:C1970470,OMIM:610913	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.004	B	0.008	B	0.872	N	1.000	N	0.69	N	-1.31	T	-0.947	T	0.237	T	0.698	0.628	7.376	-2.78	-0.374	0.184	1.538	0.547	0.0545171781103	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0003	0	0.0004	0.0002199	34	154602	rs202145169	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	2.236e-05	0	0	0	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0002	8.655e-05	7.248e-05	0.0001	8.875e-05	2.404e-05	0	0.0002	0	0	0	0	0.0002	0.0009	0.0002	0.157	0.28395	T	0.246	0.40586	T	.	.	.	.	.	.	0.872432	0.07184	N	1.067260	1	0.08975	N	.	.	.	-1.31	0.79666	T	-1.33	0.41428	N	0.1	0.19055	-0.9471	0.41465	T	0.237	0.60451	T	10	0.0447284	0.03463	T	0.054517	0.65885	D	0.547	0.81193	.	.	0.593515057505	0.59029	0.6145508798823447	0.61387	0.577822155158	0.53695	0.328964650631	0.14777	T	0.025483	0.19048	T	-0.16086	0.26629	T	-0.152684	0.59006	T	0.00790225081601422	0.00093	T	0.549445	0.19782	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.19478	B	.;.;.;.	.;.;.;.	1.142976	0.15306	11.75	0.90113081400050943	0.19394	0.08522	0.14440	N	AEFDBI	0.367566	0.45498	N	-1.09176565298304	0.06794	0.3137763	-1.14816901127425	0.06801	0.3286011	0.999843778089155	0.43971	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.98	-2.78	0.05512	-0.180000	0.09747	1.415000	0.26314	0.671000	0.69459	0.000000	0.06391	0.002000	0.18203	0.075000	0.16954	0.1872:0.1191:0.2051:0.4886	1.538	0.02395	555	0.71762	BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	1710.98	36	chr8	22163910	.	G	C	1710.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.435;DP=1076;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.64;ReadPosRankSum=-4.650e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/1:75,72:147:99:1725,0,1743	20	0	1	0
chr8	60742144	60742144	G	A	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_001316690:exon1:c.G712A:p.V238M	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	YES	0	1521	1	0	0	1	0.000328623	.	.	192487	CHARGE_syndrome|not_provided|not_specified	MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.26	T	0.031	B	0.009	B	0.027	N	0.582	N	0.69	N	1.8	T	-0.544	T	0.327	T	0.147	1.273	10.16	3.91	1.027	3.342	10.974	0.030	0.0482758932149	0.0013	0.000798722	0.0004	0.0044	0.0002	0.0001	0	1.501e-05	0	0	0.0003428	53	154602	rs200898742	0.0001	0.0001	0.0001	0.0001	0.0042	0.0001	0.0001	0.0036	0.0034	0.0042	0.0004	0	0.0001	0	0.0002	6.296e-06	0.0003	0	0.0014	0.0014	0.0014	0.0015	0.0051	0.0013	0.0012	0.0045	0.0043	0.0051	0	0.0003	0	0	0	0	1.47e-05	0.0005	0	0.317	0.19710	T	0.225	0.25514	T	0.031	0.20130	B	0.009	0.14300	B	0.027050	0.25820	N	0.189493	0.605923	0.31094	N	0.695	0.17993	N	-1.76	0.83578	D	-0.16	0.09965	N	0.174	0.24010	-0.5444	0.66997	T	0.327	0.69487	T	10	0.0068236887	0.00155	T	0.048276	0.63300	D	0.030	0.07022	.	.	0.6380952546	0.63512	0.20411073365929738	0.20328	0.10325729537	0.11677	0.548598051071	0.45660	T	0.092886	0.39097	T	-0.38168	0.03040	T	-0.318422	0.42749	T	0.00975706392356496	0.00128	T	0.808919	0.48242	T	0.04297422	0.06616	0.035848856	0.02916	0.04297422	0.06616	0.035848856	0.02915	-2.925	0.09518	T	.	.	0.084	0.12084	B	.;.;.	.;.;.	2.320502	0.29716	18.21	0.95761404197805178	0.27752	0.83383	0.42504	D	AEFDGBCI	0.308933	0.41537	N	-0.237534991891463	0.31604	1.773792	-0.0654258728966093	0.36829	2.148432	0.999998885283044	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.04	3.91	0.44383	3.424000	0.52524	5.701000	0.49379	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1155:0.0:0.8845:0.0	10.974	0.46668	868	0.31772	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	2369.98	33	chr8	60742144	.	G	A	2369.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.540;DP=891;ExcessHet=0.0000;FS=4.448;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.588e+00;SOR=0.439	GT:AD:DP:GQ:PL	0/1:85,94:179:99:2384,0,2094	20	0	1	0
chr9	14842660	14842660	C	G	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon9:c.G1394C:p.G465A	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	5	1397	115	5	0	125	0.0428229	0.7675	0.582	215773	Oculotrichoanal_syndrome|not_provided|not_specified|Congenital_diaphragmatic_hernia	MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.998	D	0.899	P	0.000	N	1.000	D	2.74	M	0.33	T	-0.495	T	0.221	T	0.153	4.063	20.9	3.76	0.830	4.638	11.003	0.337	.	0.0099	0.0199681	0.0186	0.0108	0.0443	0.0175	0.0009	0.0091	0.0196	0.0529	0.0169726	2624	154602	rs41298151	0.0128	0.0128	0.0118	0.0137	0.0475	0.0126	0.0126	0.0462	0.0457	0.0119	0.0401	0.0021	0.0165	0.0010	0.0290	0.0095	0.0150	0.0475	0.0120	0.0120	0.0113	0.0127	0.0435	0.0116	0.0114	0.0387	0.0368	0.0109	0.0505	0.0192	0.0026	0.0187	0.0007	0.0238	0.0095	0.0265	0.0435	0.017	0.51248	D	0.012	0.63918	D	0.998	0.73220	D	0.899	0.63802	P	0.000068	0.52346	N	0.202129	0.999671	0.48205	D	2.93	0.84523	M	0.33	0.58323	T	-4.11	0.74980	D	0.574	0.61511	-0.4955	0.68812	T	0.221	0.58396	T	10	0.007178992	0.00163	T	0.050605	0.64312	D	0.337	0.65913	.	.	.	.	0.7100395082716132	0.70945	.	.	0.507683515549	0.39899	T	0.410525	0.76524	T	-0.460076	0.00982	T	-0.397873	0.33631	T	0.0337219308297482	0.02591	T	0.888211	0.61727	D	0.35948035	0.57796	0.38014293	0.63053	0.4236663	0.62336	0.38014293	0.63053	-6.652	0.51448	T	.	.	0.147	0.33319	B	.;.	.;.	3.188836	0.43316	21.7	0.9953131129274787	0.69901	0.98761	0.86513	D	AEFBI	0.881154	0.80831	D	0.428934538463769	0.63020	4.52784	0.371036417734757	0.59785	4.159426	0.922265389065426	0.26702	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.63	3.76	0.42368	4.692000	0.61431	0.270000	0.16646	-0.214000	0.08267	1.000000	0.71638	0.012000	0.20211	0.974000	0.55675	0.0:0.7991:0.1302:0.0707	11.003	0.46831	835	0.38313	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1887.11	34	chr9	14842660	.	C	G	1887.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.25;DP=806;ExcessHet=0.1072;FS=10.047;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=1.54;SOR=1.840	GT:AD:DP:GQ:PL	0/1:50,27:77:99:813,0,1506	19	0	2	0
chr9	16738425	16738425	T	C	exonic	BNC2	.	nonsynonymous SNV	BNC2:NM_017637:exon2:c.A64G:p.S22G,	.	.	.	.	.	.	.	.	.	.	.	2095540	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.91	T	0.137	B	0.015	B	0.706	N	1.000	N	0	N	3.83	T	-0.926	T	0.005	T	0.114	1.882	12.25	1.16	0.225	-0.321	2.494	0.029	0.00234129457469	0.0008	0.000399361	0.0001	0.0017	0	0	0	0	0	0	0.0001229	19	154602	rs79395563	4.789e-05	4.788e-05	5.309e-05	4.263e-05	0.0017	3.86e-05	3.54e-05	0.0013	0.0012	0.0017	0	0	0	0	0.0007	0	0.0001	0	0.0003	0.0003	0.0004	0.0003	0.0013	0.0003	0.0002	0.0010	0.0009	0.0013	0	0	0	0	0	0	0	0.0005	0	0.712	0.04020	T	0.777	0.04372	T	0.043	0.21573	B	0.007	0.12992	B	0.705936	0.10054	N	0.836981	1	0.08975	N	0	0.06538	N	3.83	0.03702	T	-0.23	0.15578	N	0.159	0.19190	-0.9259	0.44730	T	0.005	0.01578	T	10	0.0037554502	0.00070	T	0.002341	0.04535	T	0.029	0.06676	.	.	0.043077524339	0.03247	0.04027998661345282	0.03973	0.0241015122764	0.02450	0.264336109161	0.05419	T	0.044627	0.26872	T	-0.650771	0.00072	T	-0.726578	0.04484	T	0.00617536609023547	0.00068	T	0.579042	0.22137	T	0.0328609	0.03392	0.030576633	0.01530	0.0328609	0.03391	0.030576633	0.01530	-4.015	0.24027	T	.	.	0.070	0.03515	B	.;.	.;.	0.530655	0.08992	5.775	0.80046989221171383	0.13020	0.02249	0.06516	N	AEFBI	0.060083	0.11394	N	-1.08042574976096	0.07005	0.324108	-1.02496449833351	0.09238	0.4584467	0.809185866722537	0.24324	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.6	1.16	0.19936	-0.334000	0.07927	0.105000	0.14702	0.605000	0.46263	0.000000	0.06391	0.004000	0.18990	0.995000	0.73285	0.2346:0.1344:0.0:0.631	2.494	0.04335	727	0.54702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	789.98	41	chr9	16738425	.	T	C	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=890;ExcessHet=0.0000;FS=2.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=0.911;SOR=0.439	GT:AD:DP:GQ:PL	0/1:37,29:66:99:804,0,992	20	0	1	0
chr9	34649445	34649445	A	G	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon8:c.A613G:p.N205D	Galactosemia, Autosomal recessive	YES	0	1107	372	43	0	458	0.171407	.	.	18652	GALT-related_disorder|Galactosemia|not_provided|GALT_POLYMORPHISM_(DUARTE,_D2)|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase	.|Human_Phenotype_Ontology:HP:0004919,MONDO:MONDO:0018116,MedGen:C0016952,OMIM:PS230400,Orphanet:352|MedGen:C3661900|.|MONDO:MONDO:0009258,MedGen:C0268151,OMIM:230400,Orphanet:352,Orphanet:79239	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.024	N	1.000	N	-0.855	N	-5.41	D	-0.345	T	0.089	T	0.357	0.357	5.939	4.4	1.256	1.578	7.829	0.382	.	0.0715	0.0728834	0.0920	0.0237	0.0572	0.0076	0.1131	0.0945	0.1289	0.1832	0.0897013	13868	154602	rs2070074	0.0956	0.0956	0.0927	0.0986	0.1801	0.0952	0.0950	0.1777	0.1767	0.0230	0.0656	0.1134	0.0067	0.1077	0.1130	0.0945	0.0966	0.1801	0.0748	0.0749	0.0737	0.0760	0.1732	0.0737	0.0732	0.1634	0.1595	0.0239	0.2264	0.0709	0.1086	0.0108	0.1101	0.0850	0.0952	0.0794	0.1732	1.0	0.00964	T	0.7	0.05727	T	0.0	0.02946	B	0.0	0.01387	B	0.023682	0.26395	N	0.363282	1	0.08975	N	-1.335	0.00675	N	-5.41	0.99076	D	0.69	0.02558	N	0.104	0.08786	-0.3448	0.73705	T	0.089	0.34216	T	10	0.0015891492	0.00018	T	.	.	.	0.382	0.69946	.	.	.	.	0.6107519334601241	0.61007	0.0529846633455	0.05838	0.494998365641	0.38132	T	0.531105	0.83775	D	-0.320467	0.06859	T	-0.0892856	0.64216	T	0.0011724377910854	0.00011	T	0.607439	0.22904	T	0.115712315	0.27301	0.081687234	0.18585	0.12176597	0.28627	0.085849494	0.19850	-2.233	0.04204	T	0.05973314454148825	0.01594	0.066	0.02313	B	.;.	.;.	2.301558	0.29454	18.13	0.77100449014328254	0.11737	0.33342	0.24805	N	AEFBI	0.235241	0.35787	N	-0.807690574731224	0.13113	0.6437672	-0.543084349204827	0.20989	1.133386	0.999962452380944	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	4.4	0.52402	1.735000	0.37800	6.631000	0.56152	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.3139:0.0:0.6861:0.0	7.829	0.28496	327	0.86637	.;Galactose-1-phosphate uridyl transferase, C-terminal	GALT|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|GALT|IL11RA|IL11RA|CNTFR-AS1|IL11RA|GALT|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|IL11RA|RP11-195F19.9|RPP25L|GALT|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA|RP11-195F19.9|TRBV26OR9-2|RP11-384P7.7|RPP25L|IL11RA|RP11-195F19.9|GALT|IL11RA|GALT|IL11RA|IL11RA|RPP25L|IL11RA|RP11-195F19.9|CNTFR-AS1|GALT|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|RPP25L|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|IL11RA|RP11-195F19.9|RPP25L|GALT|IL11RA	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Stomach|Testis|Testis|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	GALT|GALT|GALT|GALT|GALT|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|RP11-195F19.9|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|RPP25L|GALT|GALT|GALT|GALT|GALT|GALT|CCL27|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT|GALT	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Uterus|Vagina|Whole_Blood	rs2070074	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	0	0	1	0	0.1905	9063.88	35	chr9	34649445	.	A	G	9063.88	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-1.310e-01;DP=1240;ExcessHet=0.5418;FS=0.523;InbreedingCoeff=0.0735;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=0.307;SOR=0.754	GT:AD:DP:GQ:PL	0/1:84,53:137:99:1186,0,2069	14	1	6	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	.	1265	97	26	134	0	294	0.602459	.	.	322826	not_provided|Hypoparathyroidism,_deafness,_renal_disease_syndrome	MedGen:CN517202|MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	4713.46	6	chr10	8074278	.	G	GA	4713.46	.	AC=33;AF=0.786;AN=42;BaseQRankSum=-3.280e-01;DP=254;ExcessHet=0.0874;FS=7.524;InbreedingCoeff=0.1699;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=24.05;ReadPosRankSum=-3.170e-01;SOR=0.181	GT:AD:DP:GQ:PL	0/1:4,3:7:63:63,0,92	2	14	5	0
chr10	23193706	23193706	T	C	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon2:c.T787C:p.S263P,	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	.	277	416	362	467	0	1296	0.609023	.	.	135501	Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2|not_specified|not_provided|Permanent_neonatal_diabetes_mellitus|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome	MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.022	B	0.011	B	0.000	N	0.002	P	1.78	L	-3.56	D	-0.925	T	0.000	T	0.081	2.924	15.74	3.02	0.367	4.098	9.307	0.357	.	0.5108	0.624401	0.5470	0.5697	0.7022	0.8903	0.4327	0.4864	0.5430	0.5350	0.523195	80887	154602	rs7918487	0.4938	0.4962	0.4927	0.4948	0.8378	0.4928	0.4924	0.8302	0.8271	0.5601	0.6724	0.5597	0.8378	0.4417	0.6054	0.4672	0.5268	0.5353	0.5240	0.5241	0.5217	0.5264	0.8799	0.5210	0.5197	0.8585	0.8498	0.5578	0.4215	0.5843	0.5542	0.8799	0.4411	0.6327	0.4725	0.5375	0.5558	0.035	0.43708	D	0.009	0.66756	D	0.022	0.18677	B	0.011	0.15521	B	0.000012	0.62929	N	0.068790	0.00248586	0.43951	P	1.18	0.29980	L	-3.56	0.94869	D	-2.27	0.50666	N	0.06	0.03175	-0.9246	0.44915	T	0.000	0.00011	T	9	7.2453116e-07	0.00003	T	.	.	.	0.357	0.67782	.	.	.	.	0.8029689689293238	0.80250	.	.	0.808061718941	0.83195	D	0.245918	0.61529	T	-0.418964	0.01736	T	-0.230769	0.51698	T	0.0349258213578647	0.02795	T	0.630137	0.24490	T	0.42178693	0.62210	0.62976736	0.78405	0.41815445	0.61969	0.6288712	0.78357	-5.729	0.43950	T	0.22715938275925626	0.30707	0.161	0.35643	B	.	.	3.140397	0.42469	21.5	0.98917447264891534	0.48491	0.98167	0.80181	D	AEFDBCI	0.815195	0.73723	D	-0.175553205708038	0.34153	1.946079	-0.064842511773185	0.36855	2.150201	0.999832780372402	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.34	3.02	0.33970	4.083000	0.57365	2.832000	0.35027	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.500000	0.29017	0.0:0.1441:0.0:0.8559	9.307	0.37045	833	0.38804	.	C10orf67|C10orf67|ARMC3|MSRB2|C10orf67|C10orf67|C10orf67|C10orf67	Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	C10orf67	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	1	0	0.7381	16735.53	37	chr10	23193706	.	T	C	16735.53	.	AC=31;AF=0.738;AN=42;BaseQRankSum=1.78;DP=712;ExcessHet=0.0338;FS=0.000;InbreedingCoeff=0.3842;MLEAC=31;MLEAF=0.738;MQ=60.00;MQRankSum=0.00;QD=28.90;ReadPosRankSum=-6.150e-01;SOR=0.760	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1456,126,0	3	13	5	0
chr10	42593386	42593386	A	C	exonic	ZNF33B	.	nonsynonymous SNV	ZNF33B:NM_001305033:exon4:c.T1585G:p.L529V	.	.	10	1508	4	0	0	4	0.0013245	.	.	752089	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.421	B	0.356	B	0.023	N	1.000	N	-0.915	N	2.29	T	-1.039	T	0.016	T	0.193	1.602	11.31	1.43	0.425	2.941	2.945	0.107	0.00152808705804	0.0005	.	0.0004	0	0.0005	0	0	0.0006	0	0	0.0003299	51	154602	rs138366584	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	5.977e-05	0.0005	0.0074	0	0	0.0003	6.385e-05	0.0007	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0	0	0.0008	0.0058	0	0	0.0034	8.835e-05	0.0005	0	0.159	0.23813	T	0.073	0.44905	T	0.421	0.35387	B	0.356	0.43023	B	0.023069	0.26512	N	0.000000	0.999882	0.19853	N	-0.17	0.04298	N	2.29	0.17113	T	0.43	0.03297	N	0.055	0.02658	-1.0391	0.17587	T	0.016	0.06664	T	10	0.0051232576	0.00111	T	0.001528	0.02394	T	0.107	0.30369	.	.	0.209622950755	0.20551	0.0384689027870453	0.03792	0.180274561586	0.20283	0.458303391933	0.33077	T	0.017458	0.14244	T	-0.496509	0.00598	T	-0.596944	0.13069	T	0.0488119634043635	0.05290	T	0.105489	0.00786	T	0.07274043	0.16204	0.042837147	0.05193	0.07274043	0.16203	0.042837147	0.05193	-2.259	0.04336	T	.	.	0.108	0.20469	B	.;.	.;.	0.848880	0.12210	8.755	0.99297288943539319	0.58505	0.00145	0.00883	N	AEFDGBHCI	0.058170	0.10892	N	-0.385433477021783	0.25987	1.41488	-0.297084843584519	0.28194	1.570055	0.0451006018820213	0.14638	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.58	1.43	0.21585	1.509000	0.35387	.	.	0.466000	0.21733	0.015000	0.19116	0.000000	0.08366	0.969000	0.54022	0.5897:0.2611:0.1492:0.0	2.945	0.05486	.	.	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1614.98	34	chr10	42593386	.	A	C	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=849;ExcessHet=0.0000;FS=8.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.980e-01;SOR=1.257	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1629,0,1728	20	0	1	0
chr10	52771475	52771475	C	T	exonic	MBL2	.	nonsynonymous SNV	MBL2:NM_000242:exon1:c.G161A:p.G54D	.	.	417	840	239	26	0	291	0.147641	.	.	29389	not_provided|Mannose-binding_lectin_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0013714,MedGen:C3280586,OMIM:614372|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.001	N	0.000	P	4.485	H	-5.77	D	-1.250	T	0.185	T	0.742	4.011	20.6	3.99	2.530	3.632	11.885	0.728	.	0.1026	0.122005	0.1389	0.0297	0.1677	0.1731	0.1385	0.1459	0.1487	0.1406	0.136693	21133	154602	rs1800450	0.1410	0.1410	0.1409	0.1411	0.1881	0.1405	0.1403	0.1846	0.1831	0.0277	0.1741	0.1373	0.1881	0.1334	0.1189	0.1421	0.1382	0.1408	0.1164	0.1166	0.1139	0.1191	0.1726	0.1150	0.1144	0.1671	0.1649	0.0339	0.1956	0.1726	0.1503	0.1676	0.1467	0.1361	0.1412	0.1237	0.1363	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.001384	0.39175	N	0.117435	0.000104405	0.50595	P	4.29	0.98219	H	-5.77	0.99345	D	-6.1	0.89985	D	0.18	0.19459	-1.2495	0.00008	T	0.185	0.53376	T	9	0.0017509758	0.00022	T	.	.	.	0.728	0.90457	.	.	.	.	0.8229376436818094	0.82250	0.497859118466	0.48274	0.621536254883	0.55947	T	0.723671	0.92210	D	-0.0856461	0.38793	T	0.248019	0.85524	D	0.0679099384046752	0.08356	T	0.973953	0.90669	D	0.8690599	0.88787	0.84412843	0.91112	0.8690599	0.88789	0.81878877	0.89461	-13.651	0.91867	D	0.8926840177459547	0.94682	0.830	0.78746	P	.	.	4.151795	0.62284	24.4	0.99855563460931351	0.93458	0.69099	0.34055	D	AEFBCI	0.348004	0.44228	N	0.885495860096478	0.91031	10.68206	0.721114162042881	0.83984	8.166846	0.999999443880767	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	3.99	0.45527	2.556000	0.45524	4.049000	0.41491	0.599000	0.40250	0.294000	0.25270	0.998000	0.33993	0.937000	0.47636	0.0:1.0:0.0:0.0	11.885	0.51878	901	0.24189	.	MBL2|MBL2	Nerve_Tibial|Testis	.	.	rs1800450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	7297.44	34	chr10	52771475	.	C	T	7297.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-6.620e-01;DP=1277;ExcessHet=1.1607;FS=2.459;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=0.218;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,64:132:99:.:.:1564,0,1827	16	0	5	0
chr10	60083607	60083607	C	G	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_001149:exon11:c.G1487C:p.G496A	.	.	452	1065	4	1	0	6	0.00280899	.	.	429103	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.002	N	1.000	D	2.765	M	0.87	T	-0.362	T	0.328	T	0.883	4.945	28.7	5.79	2.733	7.818	20.04	0.538	0.0518948491753	0.0002	0.00119808	0.0012	0.0003	0.0003	0	0	0.0004	0	0.0069	0.001022	158	154602	rs200556767	0.0006	0.0007	0.0004	0.0008	0.0063	0.0006	0.0006	0.0058	0.0056	6.149e-05	0.0003	0.0002	2.534e-05	0	0.0033	0.0003	0.0005	0.0063	0.0004	0.0004	0.0003	0.0005	0.0044	0.0003	0.0003	0.0029	0.0025	9.629e-05	0	6.539e-05	0.0003	0.0004	0	0	0.0004	0.0009	0.0044	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.997	0.86255	D	0.001810	0.37945	N	0.000000	1	0.81001	D	2.74	0.80084	M	0.87	0.46412	T	-6.0	0.89534	D	0.858	0.85449	-0.3620	0.73204	T	0.328	0.69631	T	10	0.017237455	0.00367	T	0.051895	0.64849	D	0.538	0.80664	.	.	0.69041394292	0.68775	0.43922293027066994	0.43839	0.646741209007	0.58081	0.782076954842	0.79241	T	0.870653	0.97203	D	-0.0608426	0.42776	T	0.143274	0.79755	D	0.13357064427927	0.15708	T	0.938006	0.76748	D	0.7937433	0.83509	0.8476577	0.91347	0.7840392	0.82905	0.82843035	0.90083	-13.069	0.89645	D	0.7190347914133446	0.79999	0.743	0.74760	P	.;.;.;.	.;.;.;.	4.769228	0.77191	26.7	0.99777927415775358	0.86519	0.99236	0.93238	D	AEFGBI	0.933180	0.92468	D	0.938452237445583	0.93512	12.08876	0.90962125070518	0.95979	14.170	0.999999999977461	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.79	5.79	0.91751	7.905000	0.86479	5.955000	0.51719	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.04	0.97580	743	0.52768	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	852.98	33	chr10	60083607	.	C	G	852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.71;DP=749;ExcessHet=0.0000;FS=3.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-1.368e+00;SOR=1.279	GT:AD:DP:GQ:PL	0/1:32,31:63:99:867,0,752	20	0	1	0
chr10	89223752	89223752	T	A	exonic	LIPA	.	nonsynonymous SNV	LIPA:NM_001288979:exon5:c.A406T:p.I136L	Cholesteryl ester storage disease, Autosomal recessive;Wolman disease, Autosomal recessive	.	0	1516	5	1	0	7	0.00230339	.	.	311638	Lysosomal_acid_lipase_deficiency|Wolman_disease|not_provided|LIPA-related_disorder|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0800449,MedGen:C5574740,OMIM:PS278000,Orphanet:275761|MONDO:MONDO:0019148,MedGen:C0043208,OMIM:620151,Orphanet:75233|MedGen:C3661900|.|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.95	T	0.001	B	0.006	B	0.003	N	1.000	N	1.03	L	0.17	T	-1.028	T	0.086	T	0.325	1.239	10.03	0.721	0.103	0.020	3.687	0.047	0.00848146266177	0.0015	0.000399361	0.0014	0.0002	0.0004	0	0	0.0023	0	0.0002	0.001423	220	154602	rs147493628	0.0023	0.0023	0.0023	0.0022	0.0027	0.0022	0.0022	0.0026	0.0026	0.0004	0.0006	0.0039	0	0.0001	0.0024	0.0027	0.0021	0.0003	0.0013	0.0013	0.0013	0.0013	0.0022	0.0011	0.0011	0.0019	0.0018	0.0005	0	0.0007	0.0035	0	0.0003	0	0.0022	0.0005	0	0.745	0.04699	T	0.746	0.06511	T	0.001	0.07471	B	0.006	0.12133	B	0.002747	0.36001	N	0.299032	1	0.19694	N	0.605	0.15622	N	0.17	0.60485	T	-0.01	0.11008	N	0.231	0.27197	-1.0284	0.20973	T	0.086	0.33494	T	10	0.009458542	0.00213	T	0.008481	0.22432	T	0.047	0.12962	0.544	0.65731	0.580672568948	0.57738	0.5897337130870519	0.58903	0.144847966637	0.16365	0.398825287819	0.24905	T	0.050044	0.28483	T	-0.448894	0.01146	T	-0.420632	0.31003	T	0.00310533395039721	0.00033	T	0.147285	0.02598	T	0.22154021	0.44733	0.08148738	0.18521	0.15402415	0.34883	0.059584994	0.11206	-3.534	0.17338	T	0.14553416486940646	0.16715	0.087	0.18372	B	.;.;.;.	.;.;.;.	0.646971	0.10153	6.897	0.90716873664476094	0.19966	0.10454	0.15956	N	AEFBI	0.176282	0.30348	N	-0.966512513025583	0.09325	0.4408941	-0.930386288092485	0.11379	0.5793299	0.651274902545906	0.22166	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.57	0.721	0.17373	-0.192000	0.09585	-3.157000	0.03012	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.1308:0.0744:0.1364:0.6584	3.687	0.07867	862	0.33134	Alpha/beta hydrolase fold-1;.;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1303.98	33	chr10	89223752	.	T	A	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-7.720e-01;SOR=0.696	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1318,0,1239	20	0	1	0
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	323868	not_specified|not_provided|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy	MedGen:CN169374|MedGen:C3661900|.|MedGen:CN239310|MedGen:CN230736|Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33249.08	59	chr10	90918983	.	AATAAATAAATATATATATATATAT	AATATAT,*,A	33249.08	.	AC=26,3,2;AF=0.619,0.071,0.048;AN=42;BaseQRankSum=0.327;DP=952;ExcessHet=0.0338;FS=8.387;InbreedingCoeff=0.3293;MLEAC=27,3,2;MLEAF=0.643,0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=29.53;ReadPosRankSum=1.87;SOR=0.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,26,0,0:30:87:0|1:90918983_AATAAATAAATATATATAT_A:1080,0,87,1092,168,1260,1092,168,1260,1260:90918983	3	10	5	0
chr10	93663161	93663161	A	G	exonic	PDE6C	.	nonsynonymous SNV	PDE6C:NM_006204:exon21:c.A2501G:p.E834G,	Cone dystrophy 4, Autosomal recessive	.	0	1506	13	3	0	19	0.00626856	.	.	253923	not_specified|Cone_dystrophy_4|Achromatopsia|not_provided	MedGen:CN169374|MONDO:MONDO:0013129,MedGen:C2751308,OMIM:613093,Orphanet:49382|Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.974	D	0.563	P	0.000	D	1.000	D	1.995	M	-1.05	T	-0.167	T	0.435	T	0.29	2.489	14.28	4.88	2.038	8.257	14.31	0.349	0.146264795559	0.0026	0.00119808	0.0022	0.0015	0.0017	0.0023	0	0.0025	0.0092	0.0025	0.0020051	310	154602	rs148661165	0.0025	0.0025	0.0024	0.0025	0.0024	0.0024	0.0024	0.0024	0.0023	0.0013	0.0014	0.0113	0.0008	0.0002	0.0023	0.0024	0.0041	0.0022	0.0022	0.0022	0.0023	0.0021	0.0043	0.0020	0.0019	0.0029	0.0024	0.0016	0	0.0020	0.0104	0.0043	0.0002	0	0.0024	0.0033	0.0010	0.027	0.46513	D	0.041	0.50514	D	0.974	0.57829	D	0.563	0.49647	P	0.000010	0.62929	D	0.146783	0.999982	0.54805	D	2.485	0.72352	M	-1.05	0.76690	T	-2.36	0.52128	N	0.551	0.57690	-0.1665	0.78512	T	0.435	0.77549	T	10	0.009043366	0.00205	T	0.146265	0.82839	D	0.349	0.67049	.	.	0.81012925684	0.80834	0.5338352801949692	0.53308	0.395339904105	0.40677	0.339487344027	0.16362	T	0.28744	0.66024	T	-0.312381	0.07540	T	-0.215375	0.53180	T	0.0334035889634961	0.02537	T	0.490351	0.15073	T	0.18712704	0.40154	0.2598989	0.51745	0.17072251	0.37664	0.2765439	0.53599	-4.718	0.33622	T	.	.	0.066	0.02313	B	.	.	3.824245	0.55237	23.6	0.99668016425738792	0.78394	0.99747	0.99164	D	AEFBI	0.892323	0.82914	D	0.504497503460906	0.67354	5.070623	0.489716495462951	0.67305	5.066533	0.998871454868189	0.37868	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.88	4.88	0.63131	8.527000	0.90409	9.126000	0.78857	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.860000	0.40782	1.0:0.0:0.0:0.0	14.31	0.65966	375	0.84013	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	854.98	34	chr10	93663161	.	A	G	854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=779;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.39;ReadPosRankSum=0.739;SOR=0.797	GT:AD:DP:GQ:PL	0/1:36,33:69:99:869,0,882	20	0	1	0
chr10	119651392	119651392	G	C	UTR5	BAG3	NM_004281:c.-284G>C	.	.	Cardiomyopathy, dilated, 1HH, Autosomal dominant;Myopathy, myofibrillar, 6, Autosomal dominant	.	710	798	9	5	0	19	0.0117647	.	.	320847	not_provided|Dilated_cardiomyopathy_1HH|Myofibrillar_myopathy_6	MedGen:C3661900|MONDO:MONDO:0013479,MedGen:C3151293,OMIM:613881,Orphanet:154|MONDO:MONDO:0013061,MedGen:C2751831,OMIM:612954,Orphanet:199340	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00658946	.	.	.	.	.	.	.	.	0.0017917	277	154602	rs192502283	0.0132	0.0098	0.0127	0.0137	0.0316	0.0128	0.0126	0.0221	0.0190	0.0021	0.0170	0.0149	0	0.0077	0.0316	0.0161	0.0119	0.0067	0.0107	0.0107	0.0107	0.0106	0.0157	0.0102	0.0101	0.0149	0.0146	0.0026	0.0758	0.0116	0.0153	0.0004	0.0076	0.0240	0.0157	0.0180	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	64.02	3	chr10	119651392	.	G	C	64.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.967;DP=78;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1263;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=21.34;ReadPosRankSum=0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/1:1,2:3:19:74,0,19	15	0	1	5
chr10	123053170	123053170	T	-	intronic	ACADSB	.	.	.	2-methylbutyrylglycinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	320535	Deficiency_of_2-methylbutyryl-CoA_dehydrogenase	Human_Phenotype_Ontology:HP:0020147,MONDO:MONDO:0012392,MedGen:C1864912,OMIM:610006,Orphanet:79157	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.841254	0.8350	0.8326	0.8529	0.8101	0.9059	0.8248	0.8622	0.8438	0.0002305	6	26028	rs11307362	0.7759	0.7604	0.7727	0.7790	0.8488	0.7745	0.7739	0.8346	0.8323	0.7806	0.8253	0.8229	0.7285	0.8290	0.8488	0.7651	0.7838	0.8403	0.8799	0.8792	0.8769	0.8830	0.9355	0.8759	0.8743	0.9125	0.9031	0.8803	0.7561	0.8926	0.9310	0.8443	0.9259	0.9555	0.8677	0.8681	0.9355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	17071.38	42	chr10	123053169	.	AT	A	17071.38	.	AC=35;AF=0.833;AN=42;BaseQRankSum=-3.790e-01;DP=1002;ExcessHet=0.2785;FS=0.910;InbreedingCoeff=0.1451;MLEAC=35;MLEAF=0.833;MQ=60.00;MQRankSum=0.00;QD=23.74;ReadPosRankSum=0.164;SOR=0.579	GT:AD:DP:GQ:PL	1/1:0,21:21:63:584,63,0	1	15	5	0
chr11	535463	535463	G	A	UTR5	HRAS	NM_005343:c.-1141C>T;NM_001318054:c.-1880C>T;NM_001130442:c.-1141C>T;NM_176795:c.-1141C>T	.	.	Congenital myopathy with excess of muscle spindles, Autosomal dominant, Isolated cases;Costello syndrome, Autosomal dominant, Isolated cases;Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	.	1010	453	25	34	0	93	0.0930931	.	.	1217844	not_provided|Noonan_syndrome_and_Noonan-related_syndrome	MedGen:C3661900|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0193638	504	26028	rs8176336	0.1310	0.0031	0.1313	0.1307	0.1667	0.1088	0.1006	0.1097	0.1014	.	.	.	.	.	.	0.1667	0	0.1323	0.1042	0.1043	0.1022	0.1063	0.1874	0.1028	0.1023	0.1772	0.1732	0.0755	0.2214	0.0802	0.0889	0.1312	0.1186	0.0903	0.1169	0.0956	0.1874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	105.7	28	chr11	535463	.	G	A	105.7	.	AC=2;AF=0.100;AN=20;BaseQRankSum=0.524;DP=28;ExcessHet=0.2348;FS=0.000;InbreedingCoeff=-0.2053;MLEAC=4;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=0.00;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:535463_G_A:75,0,108:535463	8	0	2	11
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	.	21	72	439	990	0	2419	0.943816	.	.	326978	Type_1_diabetes_mellitus_2|Maturity-onset_diabetes_of_the_young_type_10|Diabetes_mellitus,_permanent_neonatal_4|Autosomal_recessive_DOPA_responsive_dystonia|Transient_Neonatal_Diabetes,_Dominant/Recessive|Hyperproinsulinemia|Diabetes_mellitus_type_1|Maturity_onset_diabetes_mellitus_in_young|not_provided	MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MedGen:CN239353|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	P	.	.	-4.58	D	-0.893	T	0.000	T	0.193	-0.854	0.541	-3.76	-2.608	0.411	2.503	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	78587.44	179	chr11	2159830	.	T	G	78587.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=0.199;DP=3573;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=22.65;ReadPosRankSum=0.179;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,214:214:99:.:.:6243,641,0	1	12	8	0
chr11	5254939	5254939	G	A	upstream	HBG2	dist=158	.	.	Cyanosis, transient neonatal, Autosomal dominant;Fetal hemoglobin quantitative trait locus 1, Autosomal dominant	.	611	857	47	7	0	61	0.0343662	.	.	30023	not_specified|Hereditary_persistence_of_fetal_hemoglobin|not_provided	MedGen:CN169374|MONDO:MONDO:0020989,MedGen:C0019025,OMIM:141749|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0479484	1248	26028	rs1060499525	0.2183	0.1733	0.2171	0.2194	0.2475	0.2171	0.2166	0.2459	0.2452	0.1238	0.1610	0.1566	0.1167	0.1910	0.1586	0.2475	0.2074	0.2141	0.2071	0.2107	0.2105	0.2035	0.2630	0.2051	0.2043	0.2598	0.2584	0.1428	0.2024	0.1805	0.1739	0.1099	0.1876	0.1837	0.2630	0.2108	0.2288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	1723.79	5	chr11	5254939	.	G	A	1723.79	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.190e-01;DP=326;ExcessHet=7.7275;FS=5.625;InbreedingCoeff=-0.3663;MLEAC=11;MLEAF=0.262;MQ=54.87;MQRankSum=0.00;QD=7.18;ReadPosRankSum=-3.700e-01;SOR=0.437	GT:AD:DP:GQ:PL	0/1:2,2:4:56:63,0,56	10	0	11	0
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	.	9	194	657	662	0	1981	0.836218	.	.	319487	Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735823	.	.	.	.	.	.	.	.	0.02213	576	26028	rs5213	0.6509	0.6490	0.6528	0.6489	0.9329	0.6497	0.6492	0.9237	0.9199	0.9329	0.6277	0.6666	0.6333	0.5278	0.7238	0.6500	0.6663	0.6293	0.7178	0.7178	0.7241	0.7113	0.9199	0.7143	0.7128	0.9122	0.9090	0.9199	0.5746	0.6767	0.6737	0.6457	0.5344	0.7041	0.6490	0.6958	0.6272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	25022.16	47	chr11	17386857	.	C	T	25022.16	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.185;DP=1241;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=23.00;ReadPosRankSum=-2.670e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:35,28:63:99:618,0,938	3	9	9	0
chr11	17408375	17408375	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	7	314	660	541	0	1742	0.735021	.	.	167542	Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|not_specified|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|not_provided|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6088	0.614617	0.6125	0.6167	0.7059	0.7429	0.5248	0.6255	0.6038	0.46	0.601991	93069	154602	rs2106865	0.6116	0.6114	0.6155	0.6077	0.7147	0.6106	0.6101	0.7077	0.7048	0.6184	0.6958	0.6590	0.7147	0.5287	0.6211	0.6176	0.6245	0.4682	0.6174	0.6175	0.6250	0.6094	0.7228	0.6140	0.6127	0.7034	0.6955	0.6148	0.7252	0.6494	0.6653	0.7228	0.5244	0.6918	0.6235	0.6340	0.4757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	19895.14	44	chr11	17408375	.	T	C	19895.14	.	AC=27;AF=0.643;AN=42;BaseQRankSum=-3.920e-01;DP=1066;ExcessHet=0.1361;FS=0.000;InbreedingCoeff=0.2741;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=22.01;ReadPosRankSum=-7.820e-01;SOR=0.725	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1977,192,0	4	10	7	0
chr11	17414293	17414293	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	703	213	106	500	0	1106	0.721932	.	.	1166871	not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2	MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.904153	.	.	.	.	.	.	.	.	0.865875	22537	26028	rs4148632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8922	0.8921	0.8924	0.8919	0.9655	0.8882	0.8865	0.9576	0.9543	0.9655	0.9134	0.8980	0.8767	0.9122	0.8735	0.8163	0.8525	0.8925	0.8324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	4454.89	6	chr11	17414293	.	A	G	4454.89	.	AC=32;AF=0.800;AN=40;BaseQRankSum=-1.256e+00;DP=166;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=34;MLEAF=0.850;MQ=60.00;MQRankSum=0.00;QD=28.93;ReadPosRankSum=1.38;SOR=1.025	GT:AD:DP:GQ:PL	1/1:0,6:6:18:212,18,0	2	14	4	1
chr11	17414389	17414389	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	87	248	463	724	0	1911	0.793934	.	.	1166872	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	0.146059	22581	154602	rs4148631	0.7539	0.7531	0.7539	0.7539	0.8624	0.7526	0.7521	0.8546	0.8514	0.5784	0.8469	0.7895	0.8624	0.7273	0.7046	0.7512	0.7604	0.7470	0.7155	0.7155	0.7141	0.7170	0.8819	0.7120	0.7105	0.8605	0.8518	0.5817	0.8136	0.7993	0.7954	0.8819	0.7282	0.7415	0.7540	0.7427	0.7632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	15879.44	27	chr11	17414389	.	G	A	15879.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=2.19;DP=577;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=30.13;ReadPosRankSum=0.291;SOR=0.668	GT:AD:DP:GQ:PL	1/1:0,25:25:75:973,75,0	1	12	8	0
chr11	17414419	17414419	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	19	213	530	760	0	2050	0.827948	.	.	1166873	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.746605	.	.	.	.	.	.	.	.	0.146842	22702	154602	rs4148630	0.7523	0.7519	0.7521	0.7525	0.8627	0.7511	0.7506	0.8550	0.8518	0.5795	0.8463	0.7888	0.8627	0.7268	0.7049	0.7499	0.7602	0.7471	0.7153	0.7153	0.7139	0.7168	0.8826	0.7118	0.7103	0.8612	0.8524	0.5812	0.8136	0.7993	0.7953	0.8826	0.7283	0.7415	0.7538	0.7427	0.7630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	23788.44	42	chr11	17414419	.	G	A	23788.44	.	AC=32;AF=0.762;AN=42;BaseQRankSum=-1.339e+00;DP=959;ExcessHet=1.5138;FS=1.823;InbreedingCoeff=-0.0500;MLEAC=32;MLEAF=0.762;MQ=60.00;MQRankSum=0.00;QD=26.88;ReadPosRankSum=0.480;SOR=0.916	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1357,120,0	1	12	8	0
chr11	17415389	17415389	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	6	93	473	950	0	2373	0.927315	.	.	1166874	not_provided|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8933	0.903754	0.8760	0.9698	0.9072	0.9098	0.8748	0.8620	0.8614	0.8369	0.0257799	671	26028	rs4148626	0.8556	0.8554	0.8570	0.8542	0.9669	0.8544	0.8538	0.9580	0.9544	0.9669	0.9065	0.8766	0.8902	0.8652	0.8093	0.8498	0.8683	0.8281	0.8916	0.8915	0.8919	0.8912	0.9632	0.8876	0.8859	0.9553	0.9520	0.9632	0.9134	0.8977	0.8767	0.9121	0.8731	0.8163	0.8526	0.8931	0.8328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	33694.02	59	chr11	17415389	.	A	G	33694.02	.	AC=34;AF=0.810;AN=42;BaseQRankSum=1.83;DP=1416;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=34;MLEAF=0.810;MQ=60.00;MQRankSum=0.00;QD=25.03;ReadPosRankSum=0.208;SOR=0.696	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1838,177,0	1	14	6	0
chr11	17463424	17463424	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	.	7	597	684	234	0	1152	0.491049	.	.	167555	Diabetes_mellitus,_permanent_neonatal_3|Permanent_neonatal_diabetes_mellitus|not_specified|not_provided|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Type_2_diabetes_mellitus	MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4870	0.467452	0.4604	0.7151	0.4818	0.4464	0.4098	0.4555	0.4456	0.3192	0.372013	57514	154602	rs2301703	0.3874	0.3872	0.3905	0.3843	0.7153	0.3865	0.3862	0.7077	0.7046	0.7153	0.4086	0.4696	0.3885	0.2994	0.4663	0.3843	0.4145	0.2911	0.4703	0.4705	0.4769	0.4636	0.7012	0.4675	0.4663	0.6944	0.6916	0.7012	0.3910	0.4287	0.4772	0.4001	0.2910	0.5340	0.3849	0.4706	0.2955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	26398.26	34	chr11	17463424	.	G	A	26398.26	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.13;DP=1950;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1378;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=17.74;ReadPosRankSum=0.562;SOR=0.708	GT:AD:DP:GQ:PL	0/1:111,87:198:99:2300,0,2870	12	2	7	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	YES	1	302	754	465	0	1684	0.736014	.	.	167535	Hyperinsulinemia|Diabetes_mellitus,_transient_neonatal,_2|Permanent_neonatal_diabetes_mellitus|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4768	0.439297	0.4740	0.4001	0.5634	0.3640	0.3196	0.5018	0.4502	0.4658	0.471094	72832	154602	rs1048099	0.4869	0.4869	0.4871	0.4867	0.6040	0.4859	0.4855	0.5873	0.5805	0.4017	0.5620	0.5426	0.3763	0.3261	0.6040	0.4976	0.4869	0.4688	0.4594	0.4596	0.4669	0.4516	0.5197	0.4566	0.4554	0.5101	0.5062	0.4018	0.5452	0.5197	0.5528	0.3808	0.3171	0.6497	0.5006	0.5081	0.4643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.7143	102418.54	245	chr11	17474969	.	A	G	102418.54	.	AC=30;AF=0.714;AN=42;BaseQRankSum=-1.654e+00;DP=4835;ExcessHet=0.7800;FS=0.000;InbreedingCoeff=0.0667;MLEAC=30;MLEAF=0.714;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.209;SOR=0.733	GT:AD:DP:GQ:PL	1/1:0,293:293:99:9040,879,0	2	11	8	0
chr11	22279865	22279866	TT	-	UTR3	ANO5	NM_001142649:c.*100_*101delTT;NM_213599:c.*100_*101delTT	.	.	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	.	198	4	1	16	7	40	0.804878	.	.	313674	not_provided|Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_myopathy	MedGen:C3661900|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1491460943	0.4847	0.4800	0.4864	0.4832	0.5022	0.4832	0.4826	0.5004	0.4996	0.3369	0.4373	0.4965	0.3131	0.5284	0.4919	0.5022	0.4672	0.4755	0.5470	0.5408	0.5446	0.5494	0.6377	0.5437	0.5424	0.6326	0.6305	0.3600	0.7205	0.5649	0.6499	0.3285	0.7108	0.5906	0.6377	0.5639	0.5818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8214	2851.92	6	chr11	22279864	.	CTT	C,CT	2851.92	.	AC=15,9;AF=0.536,0.321;AN=28;DP=164;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6148;MLEAC=22,10;MLEAF=0.786,0.357;MQ=60.00;QD=33.95;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,3,0:3:9:110,9,0,110,9,110	2	7	0	7
chr11	66560624	66560624	C	T	exonic	ACTN3	.	stopgain	ACTN3:NM_001104:exon15:c.C1729T:p.R577X	.	YES	431	348	516	227	0	970	0.582233	.	.	33351	Actn3_deficiency|Sprinting_performance|ACTININ,_ALPHA-3_POLYMORPHISM|INCREASED_COLD_TOLERANCE	MedGen:C3888204,OMIM:617749|MedGen:C2319308|.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|Affects	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011494	1777	154602	rs1815739	0.4457	0.4457	0.4429	0.4486	0.6506	0.4448	0.4445	0.6443	0.6418	0.1565	0.6506	0.4488	0.4864	0.3242	0.4631	0.4408	0.4423	0.5727	0.3751	0.3752	0.3731	0.3772	0.5830	0.3726	0.3715	0.5650	0.5577	0.1705	0.5662	0.5458	0.4550	0.4656	0.3104	0.4184	0.4422	0.4119	0.5830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.58543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	8.325406	0.97431	37	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.339000	0.33489	-0.261000	0.10426	0.599000	0.40250	0.997000	0.40164	0.094000	0.22579	0.852000	0.40310	.	.	.	59	0.97452	.;.	CTD-3074O7.5|BBS1|ACTN3|CTSF|ACTN3|DPP3|CTSF|ACTN3|CTSF|ACTN3|ACTN3|CTSF|C11orf80|LRFN4|ZDHHC24|CTSF|ZDHHC24|CTD-3074O7.2|PC|CTD-3074O7.2|CTSF|PC|BBS1|ZDHHC24|ZDHHC24|ZDHHC24|CTSF|ZDHHC24|CTSF|CTSF|CTD-3074O7.5|ACTN3|BBS1|ACTN3|CTSF|LRFN4|CLCF1|CCS|ACTN3|CTSF|ACTN3|CTSF|CCS|ACTN3|CTSF|RP11-867G23.8|CTD-3074O7.5|DPP3|BBS1|ACTN3|CTSF|ACTN3|CTSF|LRFN4|ACTN3|ACTN3|CTSF|CTD-3074O7.5|ACTN3|CTSF|CCS|ACTN3|RP11-867G23.8|BBS1|ACTN3|CTSF|CTD-3074O7.5|ZDHHC24|ACTN3|CTSF|C11orf80|DPP3|CTSF|CTSF|RP11-867G23.8|CTSF|BBS1|ACTN3|CTSF|LRFN4|RIN1|BBS1|ACTN3|CTSF|ACTN3|CCS|DPP3|ACTN3|CCS|CTD-3074O7.5|ACTN3|CTSF|RP11-867G23.8|CTD-3074O7.5|ACTN3|CTD-3074O7.2|RP11-755F10.1|RP11-867G23.8|PELI3|CTD-3074O7.5|DPP3|ZDHHC24|ACTN3|CTSF|LRFN4|ACTN3|RIN1|PELI3|CTD-3074O7.5|DPP3|BBS1|ACTN3|CTSF|CCS|RCE1|LRFN4	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Prostate|Prostate|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|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood|Whole_Blood	SLC29A2|MRPL11|DPP3|MRPL11|MRPL11|BBS1|SLC29A2|SLC29A2|MRPL11|MRPL11|DPP3|MRPL11|DPP3|MRPL11|RP11-867G23.8|MRPL11|SLC29A2|SLC29A2|MRPL11|DPP3|SLC29A2|MRPL11|SLC29A2|MRPL11|CTD-3074O7.5|SLC29A2|MRPL11|MRPL11|MRPL11|RP11-867G23.8|SLC29A2|MRPL11|DPP3|RP11-867G23.8|SLC29A2|MRPL11|MRPL11|DPP3|DPP3|MRPL11|DPP3|ACTN3|SPTBN2|MRPL11|MRPL11	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Lung|Lung|Nerve_Tibial|Pancreas|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|Stomach|Testis|Testis|Testis|Testis|Whole_Blood|Whole_Blood	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0.3333	20480.46	40	chr11	66560624	.	C	T	20480.46	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.928;DP=1792;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2857;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=0.037;SOR=0.696	GT:AD:DP:GQ:PL	0/1:40,61:101:99:1558,0,908	8	1	12	0
chr11	77192200	77192200	C	T	exonic	MYO7A	.	synonymous SNV	MYO7A:NM_000260:exon31:c.C4074T:p.S1358S	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	YES	1	1492	27	2	0	31	0.0102819	.	.	52403	Autosomal_dominant_nonsyndromic_hearing_loss_11|Autosomal_recessive_nonsyndromic_hearing_loss_2|not_specified|Usher_syndrome_type_1|not_provided|Cohen_syndrome|Usher_syndrome_type_1B	MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MONDO:MONDO:0700087,MedGen:C2931206	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	0.00399361	0.0044	0.0090	0.0041	0.0001	0.0003	0.0048	0.0078	0.0038	0.0043855	678	154602	rs78996818	0.0047	0.0047	0.0046	0.0048	0.0146	0.0046	0.0046	0.0121	0.0111	0.0078	0.0051	0.0120	5.038e-05	0.0002	0.0146	0.0046	0.0068	0.0045	0.0057	0.0057	0.0057	0.0056	0.0082	0.0054	0.0052	0.0075	0.0072	0.0082	0	0.0069	0.0095	0	0.0003	0.0306	0.0049	0.0095	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	1060.98	41	chr11	77192200	.	C	T	1060.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=817;ExcessHet=0.0000;FS=6.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.35;ReadPosRankSum=0.122;SOR=0.898	GT:AD:DP:GQ:PL	0/1:80,47:127:99:1075,0,1933	20	0	1	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	YES	9	1058	383	72	0	527	0.199395	.	.	18818	not_provided|Oculocutaneous_albinism_type_1|not_specified|Malignant_tumor_of_breast|Albinism|Slow_decrease_in_visual_acuity|Elevated_circulating_hepatic_transaminase_concentration|Foveal_hypoplasia|Choroidal_neovascularization|Abnormality_of_metabolism/homeostasis|Albinism_or_congenital_nystagmus|Autosomal_recessive_ocular_albinism|Melanoma,_cutaneous_malignant,_susceptibility_to,_8|Skin/hair/eye_pigmentation_3,_blue/green_eyes|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Oculocutaneous_albinism_type_1B|Tyrosinase-negative_oculocutaneous_albinism|Temperature-sensitive_oculocutaneous_albinism_type_1	MedGen:C3661900|MONDO:MONDO:0018135,MedGen:C0268494,Orphanet:352731|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142|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: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:C1848701|Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520|Human_Phenotype_Ontology:HP:0011506,MONDO:MONDO:0810000,MedGen:C0600518|Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768|.|MONDO:MONDO:0040653,MedGen:C0268503|MONDO:MONDO:0013759,MedGen:C3152204,OMIM:614456,Orphanet:293822|MedGen:C3149136|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0018137,MedGen:C1847132,Orphanet:352737	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	.	.	0.999	D	0.994	D	0.000	D	0.000	P	2.025	M	-4.81	D	-1.761	T	0.001	T	0.836	5.014	29.5	4.68	2.166	7.499	17.625	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	1	0	0	0	0	0	0	0	0	0	1	1	1	0	0	0	0	0	0	0	0	1	0	0.2143	7022.96	56	chr11	89284793	.	G	A	7022.96	.	AC=9;AF=0.214;AN=42;BaseQRankSum=1.32;DP=842;ExcessHet=0.0874;FS=2.143;InbreedingCoeff=0.2929;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=19.45;ReadPosRankSum=0.355;SOR=0.553	GT:AD:DP:GQ:PL	0/1:21,33:54:99:931,0,456	14	2	5	0
chr11	103236469	103236469	A	G	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon63:c.A9749G:p.Q3250R	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	11	1492	18	1	0	20	0.00665779	.	.	195492	not_specified|not_provided|Short_rib-polydactyly_syndrome|Jeune_thoracic_dystrophy	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.518	P	0.252	B	0.000	D	1.000	D	0.92	L	1.65	T	-1.063	T	0.092	T	0.559	3.587	18.27	5.69	2.167	8.812	15.990	0.174	.	0.0012	0.00239617	0.0029	0.0002	0.0009	0	0	0.0022	0.0022	0.0116	0.002652	410	154602	rs140830294	0.0023	0.0024	0.0021	0.0026	0.0115	0.0023	0.0022	0.0109	0.0106	0.0002	0.0011	0.0131	0	0.0002	0.0112	0.0016	0.0031	0.0115	0.0019	0.0019	0.0020	0.0017	0.0114	0.0017	0.0016	0.0090	0.0081	0.0003	0	0.0026	0.0138	0	0.0002	0.0068	0.0017	0.0038	0.0114	0.282	0.19430	T	0.552	0.09393	T	0.065	0.37483	B	0.056	0.39069	B	0.000457	0.44317	D	0.198629	0.999991	0.81001	D	0.875	0.21512	L	1.65	0.38883	T	-2.25	0.50337	N	0.51	0.57946	-1.0627	0.11093	T	0.092	0.35119	T	10	0.009339243	0.00211	T	.	.	.	0.174	0.44019	.	.	0.716290961394	0.71379	0.6241017257502343	0.62343	0.0691000608039	0.07735	0.715855002403	0.69442	T	0.171879	0.52016	T	-0.361006	0.04073	T	-0.281941	0.46606	T	0.0231418284931443	0.01040	T	0.863414	0.55914	D	0.45513895	0.64367	0.37592888	0.62726	0.4375642	0.63245	0.43919477	0.67280	-9.413	0.70316	D	0.39480278463588137	0.48747	0.273	0.54529	B	.;.;.;.	.;.;.;.	3.637035	0.51552	23.1	0.996764475609072	0.78977	0.98797	0.86978	D	AEFI	0.909330	0.86581	D	0.186195066284451	0.50537	3.242698	0.36461638688929	0.59393	4.116746	0.99924527578784	0.38873	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.69	5.69	0.88346	8.800000	0.91521	.	.	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.990	0.79993	603	0.67726	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	1307.11	34	chr11	103236469	.	A	G	1307.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.33;DP=777;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.08;ReadPosRankSum=0.294;SOR=0.756	GT:AD:DP:GQ:PL	0/1:35,23:58:99:532,0,814	19	0	2	0
chr12	6018369	6018369	T	G	exonic	VWF	.	synonymous SNV	VWF:NM_000552:exon28:c.A5049C:p.A1683A,	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	0	780	740	2	0	744	0.322917	.	.	266166	not_specified|Hereditary_von_Willebrand_disease|not_provided	MedGen:CN169374|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022509	348	154602	rs79275181	0.0541	0.1753	0.0514	0.0568	0.1039	0.0537	0.0535	0.0948	0.0912	0.0354	0.0602	0.0362	0.0427	0.0518	0.1039	0.0556	0.0445	0.0580	0.0156	0.0580	0.0139	0.0174	0.0276	0.0150	0.0148	0.0233	0.0217	0.0133	0.0179	0.0169	0.0164	0.0276	0.0176	0	0.0152	0.0178	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.3571	3980.38	45	chr12	6018369	.	T	G	3980.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-7.750e-01;DP=996;ExcessHet=17.4423;FS=8.327;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=54.45;MQRankSum=-6.671e+00;QD=5.08;ReadPosRankSum=1.55;SOR=0.332	GT:AD:DP:GQ:PL	0/1:41,8:49:66:66,0,1113	6	0	15	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	.	0	177	7	42	0	91	0.204494	.	.	778118	not_provided|Rhizomelic_chondrodysplasia_punctata_type_5|Peroxisome_biogenesis_disorder_2A_(Zellweger)|Peroxisome_biogenesis_disorder_2B	MedGen:C3661900|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.268e-05	0.0004	0	0	0	1.945e-05	0	0	3.84e-05	1	26028	rs757612863	0.2520	0.2523	0.2418	0.2624	0.7201	0.2513	0.2511	0.7131	0.7102	0.2717	0.3801	0.4508	0.7201	0.5171	0.2871	0.1987	0.3556	0.3579	0.5401	0.6749	0.5600	0.5186	0.6619	0.5362	0.5345	0.6379	0.6282	0.4367	0.4674	0.5855	0.6481	0.6619	0.4898	0.5586	0.6009	0.5226	0.2956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9718.96	34	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	9718.96	.	AC=24;AF=0.571;AN=42;BaseQRankSum=1.05;DP=1226;ExcessHet=0.0000;FS=8.661;InbreedingCoeff=0.8056;MLEAC=24;MLEAF=0.571;MQ=59.48;MQRankSum=-7.280e-01;QD=26.25;ReadPosRankSum=-9.330e-01;SOR=0.198	GT:AD:DP:GQ:PL	1/1:0,18:18:74:845,74,0	8	11	2	0
chr12	21174718	21174718	-	A	intronic	SLCO1B1	.	.	.	Hyperbilirubinemia, Rotor type, digenic, Digenic recessive	.	15	41	80	27	63	197	0.62037	.	.	331455	not_provided|Rotor_syndrome	MedGen:C3661900|MONDO:MONDO:0009379,MedGen:C0220991,OMIM:237450,Orphanet:3111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3504	0.370607	0.4002	0.3149	0.4197	0.4097	0.3884	0.3918	0.3995	0.4685	0.0001153	3	26028	rs34728625	0.3998	0.3998	0.3974	0.4022	0.4684	0.3989	0.3985	0.4643	0.4627	0.3167	0.3991	0.4148	0.4201	0.3631	0.4098	0.3972	0.3989	0.4684	0.4016	0.4011	0.3981	0.4053	0.6916	0.3988	0.3977	0.6716	0.6634	0.2655	0.1596	0.4269	0.5006	0.4703	0.4053	0.4565	0.4477	0.4209	0.6916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	10774.66	67	chr12	21174718	.	T	TA,TAA	10774.66	.	AC=17,5;AF=0.405,0.119;AN=42;BaseQRankSum=0.119;DP=1378;ExcessHet=1.0911;FS=0.590;InbreedingCoeff=0.0503;MLEAC=17,5;MLEAF=0.405,0.119;MQ=60.00;MQRankSum=0.00;QD=14.20;ReadPosRankSum=0.054;SOR=0.635	GT:AD:DP:GQ:PL	1/2:5,30,10:45:99:841,113,112,541,0,685	5	2	9	0
chr12	21910318	21910319	AA	-	intronic	ABCC9	.	.	.	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	33	79	73	18	23	132	0.40824	.	.	330174	Dilated_Cardiomyopathy,_Dominant|not_specified|Hypertrichotic_osteochondrodysplasia_Cantu_type|Familial_atrial_fibrillation|not_provided	MedGen:CN239310|MedGen:CN169374|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0344	0.0213	0.0444	0.0182	0.0207	0.0378	0.0459	0.0332	0.0003458	9	26028	rs778815116	0.0264	0.0488	0.0268	0.0261	0.0448	0.0262	0.0261	0.0428	0.0420	0.0156	0.0448	0.0171	0.0118	0.0348	0.0075	0.0268	0.0248	0.0261	0.0006	0.0012	0.0006	0.0007	0.0010	0.0005	0.0005	0.0004	0.0003	0.0006	0	0.0006	0	0.0010	0.0026	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2716.27	42	chr12	21910317	.	CAA	CA,C	2716.27	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=0.301;DP=958;ExcessHet=21.3848;FS=0.000;InbreedingCoeff=-0.5954;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=4.38;ReadPosRankSum=0.401;SOR=0.677	GT:AD:DP:GQ:PL	0/1:10,8,4:22:83:187,0,182,83,138,389	3	0	16	0
chr12	47906043	47906043	T	C	intergenic	VDR;TMEM106C	dist=1049;dist=57504	.	.	.	.	1343	141	6	32	0	70	0.198864	.	.	3495322	Chronic_obstructive_pulmonary_disease	Human_Phenotype_Ontology:HP:0006510,MONDO:MONDO:0005002,MedGen:C0024117,OMIM:606963	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177117	.	.	.	.	.	.	.	.	0.338981	8823	26028	rs4516035	0.5000	0.0111	.	0.5000	.	0.1708	0.1029	.	.	0	.	.	.	1.0000	.	0	.	.	0.3051	0.3053	0.3053	0.3050	0.4349	0.3028	0.3018	0.4307	0.4290	0.0855	0.4253	0.3082	0.3408	0.0224	0.4751	0.3793	0.4349	0.3149	0.2328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1452.69	2	chr12	47906043	.	T	C	1452.69	.	AC=3;AF=0.150;AN=20;BaseQRankSum=0.687;DP=132;ExcessHet=0.0000;FS=1.439;InbreedingCoeff=0.1000;MLEAC=5;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=12.11;ReadPosRankSum=0.142;SOR=0.627	GT:AD:DP:GQ:PL	1/1:0,3:3:9:91,9,0	8	1	1	11
chr12	64094951	64094951	C	T	exonic	SRGAP1	.	nonsynonymous SNV	SRGAP1:NM_001346201:exon13:c.C1490T:p.P497L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.004	U	1.000	D	4.66	H	-1.67	D	1.041	D	0.862	D	0.965	4.754	26.6	5.05	2.506	7.731	18.778	0.871	0.477149508009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321506999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.569e-06	0	1.346e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.003518	0.34847	U	0.000000	1	0.81001	D	5.245	0.99966	H	-1.67	0.82806	D	-8.91	0.97942	D	0.994	0.99899	1.041	0.97931	D	0.862	0.95394	D	9	0.9766516	0.97462	D	0.47715	0.94780	D	0.871	0.96133	0.818	0.93195	0.917048781376	0.91621	0.9220230046232393	0.92179	0.853553387311	0.68658	0.808189690113	0.83214	D	0.658826	0.89736	D	0.445754	0.92290	D	0.402518	0.92194	D	0.999464809894562	0.97510	D	0.983302	0.94339	D	0.581759	0.71704	0.55074006	0.74023	0.581759	0.71705	0.55074006	0.74024	-10.144	0.74769	D	.	.	0.971	0.89526	P	.;.;.	.;.;.	5.271034	0.88506	29.6	0.99810721164317762	0.89442	0.99127	0.91622	D	AEFBI	0.884659	0.81453	D	0.985702751092392	0.95289	13.47936	0.859280216376727	0.93545	12.11502	1.0	0.98316	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	7.842000	0.85116	7.707000	0.66598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.778	0.91883	917	0.20147	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	122.14	41	chr12	64094951	.	C	T	122.14	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.450e+00;DP=926;ExcessHet=1.7912;FS=99.434;InbreedingCoeff=-0.1390;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=-6.800e-02;SOR=9.736	GT:AD:DP:GQ:PL	0/1:30,9:39:99:119,0,468	15	0	6	0
chr12	88131229	88131229	A	-	intronic	CEP290	.	.	.	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	.	486	1001	25	2	8	37	0.0142787	.	.	326864	Familial_aplasia_of_the_vermis|Leber_congenital_amaurosis|Bardet-Biedl_syndrome|Meckel-Gruber_syndrome|Nephronophthisis|Renal_dysplasia_and_retinal_aplasia	MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0017842,MedGen:C0403553,OMIM:PS266900,Orphanet:3156	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0386	.	0.1836	0.0504	0.1077	0.1224	0.0030	0.1438	0.185	0.3349	0.0001153	3	26028	rs756135970	0.1610	0.2163	0.1573	0.1650	0.1901	0.1603	0.1600	0.1832	0.1804	0.1222	0.1901	0.1833	0.1596	0.1969	0.1272	0.1586	0.1709	0.1728	0.0009	0.0029	0.0007	0.0011	0.0020	0.0007	0.0007	0.0011	0.0008	0.0003	0	0.0007	0.0003	0.0020	0.0051	0.0035	0.0007	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	89.08	21	chr12	88131228	.	TA	T	89.08	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.530e-01;DP=518;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0870;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.92;ReadPosRankSum=0.063;SOR=0.615	GT:AD:DP:GQ:PL	0/1:9,2:11:23:23,0,276	18	0	3	0
chr12	101766270	101766270	A	G	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon12:c.T1433C:p.I478T,	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	713282	Mucolipidosis_type_II|Pseudo-Hurler_polydystrophy|not_provided	MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576|MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.77	T	0.003	B	0.005	B	0.925	N	1.000	N	0.345	N	-3.85	D	-0.309	T	0.584	D	0.147	0.156	4.841	-4.69	-0.397	-0.559	7.658	0.266	0.0544605855198	0.0004	0.000399361	0.0007	0.0003	0	0	0	0.0005	0	0.0025	0.0006015	93	154602	rs149718548	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0005	0.0026	0.0025	8.963e-05	0.0003	0.0015	0	1.872e-05	0.0029	0.0004	0.0007	0.0029	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0002	0.0023	0.0019	4.813e-05	0	6.539e-05	0.0003	0	0	0.0034	0.0004	0.0005	0.0035	0.182	0.21801	T	0.489	0.11586	T	0.003	0.11197	B	0.005	0.11217	B	0.925238	0.08459	N	0.967326	1	0.08975	N	1.1	0.28011	L	-3.85	0.95859	D	-0.12	0.08809	N	0.169	0.17966	-0.3094	0.74722	T	0.584	0.85079	D	10	0.0063535273	0.00143	T	0.054461	0.65866	D	0.266	0.57999	.	.	0.365317461125	0.36143	0.5691773594388446	0.56845	0.28373127432	0.30810	0.301884233952	0.10682	T	0.075602	0.35216	T	-0.319188	0.06965	T	-0.235883	0.51200	T	0.00434952491633391	0.00046	T	0.874313	0.58483	D	0.024662929	0.01321	0.027240569	0.00862	0.024662929	0.01321	0.027240569	0.00862	-4.152	0.26053	T	0.09487341674740654	0.06396	0.080	0.07841	B	.	.	0.295647	0.06715	3.225	0.58841609734208611	0.06085	0.04924	0.10679	N	AEFBI	0.045895	0.07560	N	-1.29789030836205	0.03701	0.1658055	-1.3277398934604	0.04075	0.1914703	0.999975229042931	0.50053	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	-4.69	0.03061	-0.392000	0.07375	-0.108000	0.11862	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.572000	0.30699	0.2925:0.4172:0.2902:0.0	7.658	0.27550	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1981.98	33	chr12	101766270	.	A	G	1981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.900e-02;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=0.043;SOR=0.648	GT:AD:DP:GQ:PL	0/1:73,81:154:99:1996,0,1755	20	0	1	0
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	YES	2	270	714	536	0	1786	0.767842	.	.	134680	Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|not_specified|not_provided|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4175	0.428514	0.4722	0.3467	0.4430	0.3969	0.4887	0.4772	0.5226	0.5739	0.0001537	4	26028	rs1169289	0.4566	0.4566	0.4516	0.4616	0.6297	0.4557	0.4553	0.6126	0.6057	0.3411	0.4475	0.5840	0.4311	0.4803	0.6297	0.4472	0.4625	0.5707	0.4301	0.4302	0.4244	0.4360	0.5691	0.4273	0.4262	0.5513	0.5441	0.3324	0.4382	0.4585	0.5786	0.3892	0.4991	0.6293	0.4561	0.4691	0.5691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.619	42933.13	95	chr12	120978819	.	C	G	42933.13	.	AC=26;AF=0.619;AN=42;BaseQRankSum=1.45;DP=2181;ExcessHet=0.3152;FS=1.264;InbreedingCoeff=0.1923;MLEAC=26;MLEAF=0.619;MQ=60.00;MQRankSum=0.00;QD=21.72;ReadPosRankSum=0.778;SOR=0.582	GT:AD:DP:GQ:PL	0/1:71,42:113:99:992,0,1951	4	9	8	0
chr12	120978847	120978847	A	C	exonic	HNF1A	.	nonsynonymous SNV	HNF1A:NM_000545:exon1:c.A79C:p.I27L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	YES	0	433	725	364	0	1453	0.626563	.	.	29976	Maturity_onset_diabetes_mellitus_in_young|Insulin_resistance,_susceptibility_to|not_specified|SERUM_HDL_CHOLESTEROL_LEVEL,_MODIFIER_OF|not_provided|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|Type_2_diabetes_mellitus	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C1852091|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.025	B	0.047	B	0.001	D	0.000	P	1.445	L	-4.99	D	-1.199	T	0.000	T	0.491	2.485	14.27	4.45	1.637	3.135	12.900	0.471	.	0.2625	0.298522	0.3533	0.1240	0.3657	0.4181	0.4013	0.3526	0.4043	0.4245	0.337234	52137	154602	rs1169288	0.3335	0.3336	0.3293	0.3377	0.4891	0.3327	0.3324	0.4740	0.4679	0.1157	0.3665	0.4685	0.4637	0.3871	0.4891	0.3203	0.3413	0.4211	0.2886	0.2888	0.2795	0.2980	0.4159	0.2863	0.2854	0.4007	0.3946	0.1246	0.3998	0.3441	0.4579	0.4113	0.4038	0.5136	0.3279	0.3172	0.4159	0.082	0.33254	T	0.088	0.41074	T	0.02	0.18235	B	0.013	0.16460	B	0.000599	0.43095	D	0.102545	0.00427281	0.58761	P	.	.	.	-4.99	0.98507	D	-0.92	0.26422	N	0.244	0.59478	-1.1988	0.00159	T	0.000	0.00011	T	9	0.0011825562	0.00013	T	.	.	.	0.471	0.76487	.	.	.	.	0.639855555068673	0.63920	0.661091555139	0.58901	0.671702623367	0.63080	T	0.616759	0.87931	D	-0.242214	0.15067	T	0.0231193	0.71833	D	0.0200591795459442	0.00707	T	0.545645	0.21248	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.29724	B	.;.;.;.;.;.	.;.;.;.;.;.	2.848995	0.37605	20.5	0.97610260144253136	0.34904	0.91018	0.52700	D	AEFDBHCI	0.874006	0.79666	D	-0.165784519999115	0.34565	1.974477	-0.019193184638099	0.38849	2.294743	0.999999999782079	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	3.208000	0.50816	6.975000	0.57104	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	12.900	0.57511	371	0.84287	Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal	SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|UNC119B|SPPL3|SPPL3|SPPL3|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43|ACADS|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Cerebellum|Brain_Cortex|Brain_Nucleus_accumbens_basal_ganglia|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Thyroid|Thyroid|Whole_Blood	.	.	rs1169288	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.5238	33561.51	89	chr12	120978847	.	A	C	33561.51	.	AC=22;AF=0.524;AN=42;BaseQRankSum=1.54;DP=1997;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=19.34;ReadPosRankSum=-1.670e-01;SOR=0.717	GT:AD:DP:GQ:PL	0/1:70,40:110:99:1089,0,2002	5	6	10	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	.	1	363	726	432	0	1590	0.686528	0	0.002	134677	not_provided|Maturity_onset_diabetes_mellitus_in_young|Type_2_diabetes_mellitus|Maturity-onset_diabetes_of_the_young_type_3|Nonpapillary_renal_cell_carcinoma|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	P	.	.	.	.	-1.027	T	0.000	T	.	-0.974	0.301	-8.98	-3.672	-0.240	13.207	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	52313.0	129	chr12	120997672	.	G	A	52313.0	.	AC=23;AF=0.548;AN=42;BaseQRankSum=1.17;DP=2905;ExcessHet=2.1081;FS=0.567;InbreedingCoeff=-0.0572;MLEAC=23;MLEAF=0.548;MQ=60.00;MQRankSum=0.00;QD=19.48;ReadPosRankSum=0.674;SOR=0.641	GT:AD:DP:GQ:PL	1/1:0,148:148:99:4600,444,0	4	6	11	0
chr13	23320614	23320615	TG	-	intronic	SGCG	.	.	.	Muscular dystrophy, limb-girdle, type 2C, Autosomal recessive	.	188	423	406	438	67	1349	0.602444	.	.	408805	not_specified|not_provided	MedGen:CN169374|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	.	0.1291	0.0400	0.1078	0.0906	0.0515	0.1427	0.1633	0.1427	0.0002305	6	26028	rs1064794531	0.0330	0.0494	0.0331	0.0329	0.0489	0.0327	0.0326	0.0468	0.0460	0.0087	0.0363	0.0553	0.0489	0.0201	0.0322	0.0331	0.0334	0.0349	0.0006	0.0009	0.0006	0.0007	0.0010	0.0005	0.0005	0.0006	0.0005	0.0001	0	0.0010	0	0.0006	0.0014	0	0.0008	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	14729.47	28	chr13	23320613	.	TTG	GTG,*,T	14729.47	.	AC=16,3,7;AF=0.381,0.071,0.167;AN=42;BaseQRankSum=0.146;DP=715;ExcessHet=4.5793;FS=0.638;InbreedingCoeff=-0.2554;MLEAC=16,2,8;MLEAF=0.381,0.048,0.190;MQ=60.00;MQRankSum=0.00;QD=25.66;ReadPosRankSum=-7.800e-02;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,21,0,0:35:99:0|1:23320605_T_G:840,0,515,882,578,1460,882,578,1460,1460:23320605	2	3	7	0
chr13	36819434	36819434	C	G	exonic	RFXAP	.	nonsynonymous SNV	RFXAP:NM_000538:exon1:c.C77G:p.P26R,	Bare lymphocyte syndrome, type II, complementation group D, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	334349	MHC_class_II_deficiency	MONDO:MONDO:0008855,MedGen:C2931418,OMIM:PS209920,Orphanet:572	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.948	D	0.128	N	1.000	N	0	N	.	.	-1.055	T	0.092	T	0.337	2.051	12.81	4.01	1.046	1.515	9.028	0.198	.	.	.	0.0039	0	0	0	0	0.0154	0	0	9.7e-05	15	154602	rs763162669	0.0001	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0001	8.059e-05	3.763e-05	0.0003	0.0032	0	2.361e-05	0.0002	8.02e-05	0.0004	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.253e-05	0.0001	8.295e-05	2.414e-05	0	0.0003	0.0029	0	0	0	8.831e-05	0.0010	0	0.007	0.59928	D	0.393	0.15355	T	1.0	0.90584	D	0.948	0.68536	D	0.128475	0.18730	N	0.379535	1	0.08975	N	0.895	0.22405	L	.	.	.	-1.42	0.34992	N	0.155	0.16028	-1.0553	0.12961	T	0.092	0.35146	T	9	0.0066409707	0.00150	T	.	.	.	0.198	0.48105	0.237	0.16760	0.212008924253	0.20833	0.22145126156859848	0.22060	1.04077518739	0.75788	0.693095326424	0.66150	T	0.048657	0.28082	T	-0.165553	0.25908	T	-0.176645	0.56832	T	0.108697224269717	0.13288	T	0.416558	0.10945	T	0.07153889	0.15846	0.1727111	0.39545	0.07153889	0.15845	0.1727111	0.39545	-6.555	0.50709	T	.	.	0.103	0.18539	B	.	.	1.945762	0.24712	16.50	0.99372140490833372	0.61498	0.30909	0.24203	N	ALL	0.035887	0.04692	N	-0.294255235906611	0.29369	1.628076	-0.419006694667712	0.24439	1.338293	0.999999999999841	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.86	4.01	0.45821	0.951000	0.28733	1.482000	0.26828	0.535000	0.24933	0.001000	0.13787	0.050000	0.21810	0.005000	0.06747	0.0:0.8966:0.0:0.1034	9.028	0.35405	756	0.51065	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	503.98	33	chr13	36819434	.	C	G	503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=793;ExcessHet=0.0000;FS=1.023;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.87;ReadPosRankSum=0.215;SOR=0.974	GT:AD:DP:GQ:PL	0/1:40,24:64:99:518,0,926	20	0	1	0
chr14	21431303	21431303	G	A	exonic	CHD8	.	nonsynonymous SNV	CHD8:NM_001170629:exon2:c.C341T:p.T114M,	.	.	419	1102	1	0	0	1	0.000453515	.	.	268980	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	0	N	-2.46	D	-0.284	T	0.402	T	0.209	2.397	13.97	4.88	1.445	1.615	12.341	0.288	0.216791486836	0.0004	0.00139776	0.0005	0.0042	0.0027	0	0	0	0	0	0.0002393	37	154602	rs111250264	7.977e-05	7.867e-05	9.305e-05	6.621e-05	0.0021	6.757e-05	6.32e-05	0.0017	0.0015	0.0021	0.0002	0	0	0	0	2.386e-05	0.0002	2.47e-05	0.0009	0.0009	0.0010	0.0009	0.0033	0.0008	0.0008	0.0028	0.0027	0.0033	0	0.0003	0	0	0	0	1.47e-05	0.0009	0	0.052	0.39097	T	0.168	0.30631	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0	0.06538	N	-2.46	0.88924	D	-0.29	0.71997	N	0.146	0.14763	-0.2836	0.75442	T	0.402	0.75309	T	7	0.007959813	0.00181	T	0.216791	0.87576	D	0.288	0.60691	.	.	0.569341392405	0.56599	0.15823194019030412	0.15744	0.552897332157	0.52078	0.335795581341	0.15808	T	0.121244	0.44407	T	-0.328363	0.06236	T	-0.249374	0.49878	T	0.0227765387134694	0.00997	T	0.749125	0.39073	T	0.04052661	0.05800	0.07842481	0.17563	0.04052661	0.05800	0.07842481	0.17563	-5.169	0.38625	T	.	.	0.084	0.14933	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.506136	0.32358	19.02	0.99489336597221112	0.67347	0.33080	0.24741	N	AEFDBI	0.063341	0.12235	N	-0.108168832384271	0.37037	2.149063	-0.0234473858405391	0.38659	2.280771	0.998677165756978	0.37434	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.77	4.88	0.63131	3.011000	0.49254	5.037000	0.46877	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.08:0.0:0.92:0.0	12.341	0.54419	929	0.16858	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2253.98	37	chr14	21431303	.	G	A	2253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-8.850e-01;SOR=0.667	GT:AD:DP:GQ:PL	0/1:113,90:203:99:2268,0,2747	20	0	1	0
chr14	23383234	23383234	G	A	exonic	MYH6	.	synonymous SNV	MYH6:NM_002471:exon37:c.C5652T:p.A1884A,	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	.	57	1459	6	0	0	6	0.00205198	.	.	320333	Cardiomyopathy|Hypertrophic_cardiomyopathy_14|not_provided|MYH6-related_disorder|Cardiovascular_phenotype|not_specified	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|MedGen:C3661900|.|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000399361	0.0008	0	8.643e-05	0.0008	0	0.0013	0.0011	0.0002	0.0007503	116	154602	rs200662317	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0012	0.0009	5.982e-05	0.0001	0.0178	0.0008	0	0.0021	0.0002	0.0014	0.0002	0.0006	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0002	0.0002	4.833e-05	0	0.0001	0.0164	0.0006	0	0	0.0004	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	0.02381	777.98	33	chr14	23383234	.	G	A	777.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=776;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.475;SOR=0.846	GT:AD:DP:GQ:PL	0/1:55,36:91:99:792,0,1244	20	0	1	0
chr14	23427718	23427718	G	T	exonic	MYH7	.	synonymous SNV	MYH7:NM_000257:exon16:c.C1755A:p.I585I,	Cardiomyopathy, dilated, 1S, Autosomal dominant;Cardiomyopathy, hypertrophic, 1, Autosomal dominant;Laing distal myopathy, Autosomal dominant;Left ventricular noncompaction 5, Autosomal dominant;Myopathy, myosin storage, autosomal dominant, Autosomal dominant;Myopathy, myosin storage, autosomal recessive, Autosomal recessive;Scapuloperoneal syndrome, myopathic type, Autosomal dominant	YES	0	1516	3	0	3	6	0.000988468	.	.	52033	Cardiomyopathy|Myosin_storage_myopathy|Dilated_Cardiomyopathy,_Dominant|not_provided|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_1|not_specified|Left_ventricular_noncompaction_cardiomyopathy|MYH7-related_skeletal_myopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0008409,MedGen:C1842160,OMIM:608358,Orphanet:437572,Orphanet:636965|MedGen:CN239310|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN230736|MONDO:MONDO:0008647,MedGen:C3495498,OMIM:192600|MedGen:CN169374|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MONDO:MONDO:0008050,MedGen:C4552004,OMIM:160500,Orphanet:59135	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0002	0	0.0008	0	0	0.0002	0.0011	0	0.0001682	26	154602	rs201860580	8.687e-05	8.756e-05	7.078e-05	0.0001	0.0010	7.42e-05	6.969e-05	0.0005	0.0003	2.987e-05	0.0005	0.0005	0	0	0.0010	6.205e-05	0.0002	1.159e-05	0.0002	0.0002	0.0003	0.0002	0.0014	0.0002	0.0002	0.0010	0.0008	7.218e-05	0	0.0014	0.0006	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	0.02381	2920.98	35	chr14	23427718	.	G	T	2920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.09;DP=976;ExcessHet=0.0000;FS=3.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-3.280e-01;SOR=0.517	GT:AD:DP:GQ:PL	0/1:138,112:250:99:2935,0,3380	20	0	1	0
chr15	45111502	45111502	C	G	exonic	DUOX2	.	synonymous SNV	DUOX2:NM_001363711:exon6:c.G597C:p.S199S	Thyroid dyshormonogenesis 6, Autosomal recessive	YES	2	1502	16	2	0	20	0.00661376	.	.	739646	not_specified|not_provided|Thyroid_dyshormonogenesis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0012	0.0037	0	0.0024	0	0.0008	0	0.0013	0.0008837	23	26028	rs2467828	0.0013	0.0013	0.0013	0.0013	0.0061	0.0013	0.0013	0.0043	0.0036	0.0017	0.0008	0.0001	0	0.0001	0.0061	0.0014	0.0015	0.0020	0.0015	0.0015	0.0016	0.0013	0.0018	0.0013	0.0012	0.0014	0.0013	0.0018	0	0.0014	0	0.0002	0	0	0.0016	0.0038	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.04762	1915.11	36	chr15	45111502	.	C	G	1915.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=785;ExcessHet=0.1072;FS=8.872;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.80;MQRankSum=-4.732e+00;QD=17.57;ReadPosRankSum=1.90;SOR=0.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,28:71:99:.:.:1067,0,1602	19	0	2	0
chr15	50586433	50586433	G	A	exonic	TRPM7	.	nonsynonymous SNV	TRPM7:NM_001301212:exon28:c.C4445T:p.T1482I	.	.	433	876	190	23	0	236	0.118712	.	.	19846	not_provided|TRPM7-related_disorder|Amyotrophic_lateral_sclerosis-parkinsonism/dementia_complex_1,_susceptibility_to|Juvenile_amyotrophic_lateral_sclerosis	MedGen:C3661900|.|.|MONDO:MONDO:0017593,MedGen:C3468114,Orphanet:300605	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.186	B	0.098	B	0.953	N	0.717	P	0.55	N	0.53	T	-1.053	T	0.002	T	0.054	1.637	11.43	2.19	0.380	1.970	2.709	0.037	.	0.0797	0.0758786	0.0870	0.0202	0.0527	0.0765	0.0530	0.0998	0.0926	0.1180	0.0873598	13506	154602	rs8042919	0.1013	0.1018	0.1007	0.1018	0.1383	0.1008	0.1007	0.1352	0.1340	0.0163	0.0587	0.0692	0.1383	0.0548	0.0875	0.1069	0.0999	0.1075	0.0751	0.0751	0.0765	0.0737	0.1220	0.0740	0.0735	0.1139	0.1107	0.0215	0.0768	0.0644	0.0793	0.0980	0.0531	0.0952	0.1082	0.0804	0.1220	0.247	0.39575	T	0.121	0.42436	T	0.186	0.29254	B	0.098	0.30479	B	0.953328	0.08272	N	0.978397	0.717259	0.29956	P	0.895	0.22405	L	0.53	0.55266	T	-1.36	0.37375	N	0.014	0.00445	-1.0529	0.13601	T	0.002	0.00738	T	9	0.0014967024	0.00017	T	.	.	.	0.037	0.09474	.	.	.	.	0.3374016641413803	0.33653	0.130681104142	0.14746	0.357630670071	0.19040	T	0.195563	0.55168	T	-0.662195	0.00061	T	-0.580153	0.14532	T	0.00958415804392686	0.00124	T	0.585341	0.21547	T	0.020128323	0.00561	0.032518517	0.02001	0.020128323	0.00560	0.032518517	0.02001	-4.246	0.27412	T	.	.	0.126	0.34711	B	.;.;.	.;.;.	2.320220	0.29709	18.21	0.98708867514803611	0.45025	0.74352	0.36372	D	AEFBI	0.079394	0.16036	N	-0.34388404852293	0.27498	1.509134	-0.227690699432226	0.30549	1.720951	0.0124718101751214	0.12332	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.25	2.19	0.26890	1.985000	0.40289	2.360000	0.32366	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.1071:0.1809:0.5253:0.1866	2.709	0.04851	544	0.72685	.;.;.	SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|TRPM7|SPPL2A|RP11-562A8.4|SPPL2A|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|SPPL2A|TNFAIP8L3|SPPL2A|SPPL2A|SPPL2A|GLDN|TRPM7|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|TRPM7|SPPL2A|AP4E1|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|SPPL2A|RP11-562A8.5|USP50|SPPL2A|SPPL2A|AP4E1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis|Testis|Testis|Thyroid|Whole_Blood	SPPL2A|RP11-562A8.5|RP11-562A8.4|USP50	Cells_Cultured_fibroblasts|Testis|Testis|Testis	rs8042919	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.07143	4020.68	35	chr15	50586433	.	G	A	4020.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.950e-01;DP=1048;ExcessHet=0.3300;FS=0.799;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.083;SOR=0.753	GT:AD:DP:GQ:PL	0/1:83,68:151:99:1549,0,1953	18	0	3	0
chr15	59256276	59256276	C	T	intronic	MYO1E	.	.	.	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	.	26	0	7	1489	0	2985	1	0	0	971023	not_specified|not_provided|Focal_segmental_glomerulosclerosis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9775	0.97504	0.9939	0.9331	0.9973	1	1	0.9998	0.9967	0.9999	0.950408	146935	154602	rs4508371	0.9981	0.9980	0.9978	0.9983	1.0000	0.9967	0.9961	0.9983	0.9976	0.9313	0.9973	1.0000	1.0000	1.0000	0.9970	0.9999	0.9960	0.9999	0.9812	0.9812	0.9812	0.9813	1.0000	0.9771	0.9753	0.9934	0.9908	0.9344	1.0000	0.9945	1.0000	1.0000	1.0000	0.9864	0.9997	0.9887	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	79118.81	83	chr15	59256276	.	C	T	79118.81	.	AC=42;AF=1.00;AN=42;BaseQRankSum=2.30;DP=2826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0000;MLEAC=42;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=28.56;ReadPosRankSum=1.38;SOR=0.954	GT:AD:DP:GQ:PL	1/1:0,134:134:99:3709,402,0	0	21	0	0
chr15	68207980	68207983	ACAC	-	UTR3	CLN6	NM_017882:c.*160_*157delGTGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	205	10	0	6	5	17	0.375	.	.	341232	Neuronal_Ceroid-Lipofuscinosis,_Recessive|not_provided	MedGen:CN239323|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs141886537	0.4732	0.4569	0.4793	0.4678	0.5300	0.4716	0.4709	0.5278	0.5268	0.3809	0.4432	0.4817	0.1587	0.4999	0.4595	0.5300	0.4818	0.3368	0.4804	0.4792	0.4870	0.4734	0.5565	0.4774	0.4762	0.5518	0.5498	0.3924	0.4592	0.4948	0.4910	0.1749	0.5171	0.5274	0.5565	0.4919	0.3444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7778	4747.06	3	chr15	68207979	.	GACAC	G,GACACAC	4747.06	.	AC=14,18;AF=0.389,0.500;AN=36;BaseQRankSum=-4.310e-01;DP=175;ExcessHet=0.8031;FS=1.245;InbreedingCoeff=0.1441;MLEAC=15,20;MLEAF=0.417,0.556;MQ=60.00;MQRankSum=0.00;QD=33.91;ReadPosRankSum=-5.450e-01;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,4,0:4:12:.:.:180,12,0,180,12,180	0	4	2	3
chr15	77037132	77037132	G	C	exonic	PSTPIP1	.	nonsynonymous SNV	PSTPIP1:NM_001321135:exon14:c.G1150C:p.G384R	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Autosomal dominant	.	0	1501	20	1	0	22	0.00727513	.	.	433870	not_provided|Autoinflammatory_syndrome|Pyogenic_arthritis-pyoderma_gangrenosum-acne_syndrome	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011462,MedGen:C1858361,OMIM:604416,Orphanet:69126	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.87	M	-0.16	T	0.521	D	0.677	D	0.788	4.375	23.1	5.16	2.397	8.621	17.210	0.715	0.379205151611	8e-05	0.000199681	0.0003	0	0	0	0	7.981e-05	0	0.0018	0.0002199	34	154602	rs369113632	0.0002	0.0002	0.0001	0.0002	0.0038	0.0002	0.0002	0.0026	0.0022	0	2.239e-05	0	2.519e-05	0	0.0038	7.197e-05	0.0003	0.0018	7.225e-05	7.218e-05	5.142e-05	9.402e-05	0.0014	3.97e-05	3.126e-05	0.0007	0.0005	0	0	6.539e-05	0	0.0002	0	0.0034	1.471e-05	0	0.0014	0.002	0.72154	D	0.006	0.72224	D	0.999	0.77913	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.06	0.86941	M	-0.16	0.65378	T	-3.98	0.74193	D	0.905	0.92667	0.521	0.90839	D	0.677	0.88837	D	10	0.438865	0.57971	T	0.379205	0.92931	D	0.715	0.89877	0.946	0.99325	0.92207517935	0.92128	0.803177007946961	0.80271	0.693671442879	0.60719	0.666114509106	0.62284	T	0.243553	0.61251	T	-0.0918208	0.37774	T	0.088545	0.76148	D	0.260756384061415	0.23348	T	0.950605	0.82752	D	0.5855443	0.71910	0.53273374	0.73000	0.6310291	0.74354	0.5507435	0.74024	-10.06	0.75170	D	0.5577426508343604	0.62574	0.232	0.50472	B	.;.;.	.;.;.	4.906991	0.80697	27.4	0.99921221613265843	0.98787	0.95409	0.64607	D	AEFDBCI	0.888545	0.82176	D	0.849350165810424	0.89071	9.823342	0.7756234460527	0.88054	9.43995	0.999999999991267	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.491896	0.07777	0	.	.	5.16	5.16	0.70563	9.209000	0.94206	11.834000	0.97615	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.0:0.0:1.0:0.0	17.210	0.86811	295	0.88218	SH3 domain|SH3 domain|SH3 domain|PSTPIP1, SH3 domain;SH3 domain|SH3 domain|SH3 domain|PSTPIP1, SH3 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2132.98	35	chr15	77037132	.	G	C	2132.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.684e+00;DP=892;ExcessHet=0.0000;FS=2.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-1.087e+00;SOR=0.938	GT:AD:DP:GQ:PL	0/1:96,93:189:99:2147,0,2442	20	0	1	0
chr16	50710614	50710614	C	T	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.C622T:p.R208C	Blau syndrome, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	103771	Autoinflammatory_syndrome|Inflammatory_bowel_disease_1|Blau_syndrome|Regional_enteritis	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.997	D	0.000	D	1.000	D	1.64	L	-0.57	T	-0.247	T	0.422	T	0.349	0.576	7.112	4.31	1.358	2.206	10.142	0.326	0.273144951438	7.7e-05	0.000199681	0.0001	9.617e-05	0	0	0	0.0002	0	0.0001	0.0001488	23	154602	rs104895422	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.833e-05	0.0001	0.0001	8.961e-05	0	0	0	0	0.0005	0.0001	9.934e-05	6.957e-05	0.0001	0.0001	0.0001	0.0001	0.0002	9.142e-05	7.698e-05	0.0001	8.876e-05	0.0002	0	0	0	0	0	0	0.0002	0	0.0002	0.157	0.23997	T	0.1	0.38742	T	0.339	0.90584	B	0.044	0.86255	B	0.000004	0.62929	D	0.000000	0.999785	0.49076	D	1.935	0.51832	L	-0.57	0.71307	T	-2.78	0.58896	D	0.374	0.41557	-0.2472	0.76435	T	0.422	0.76684	T	10	0.16146651	0.30285	T	0.273145	0.89955	D	0.326	0.64826	.	.	0.885238458156	0.88411	0.44981830910260145	0.44899	0.135669409834	0.15297	0.438364863396	0.30353	T	0.282387	0.65513	T	-0.21539	0.18625	T	-0.27287	0.47530	T	0.0767348294851004	0.09564	T	0.924508	0.72366	D	0.14051296	0.32416	0.094750024	0.22442	0.16655628	0.36997	0.09560894	0.22683	-4.9	0.35735	T	0.2727940641977857	0.36670	0.086	0.10545	B	.;.	.;.	3.536036	0.49633	22.8	0.93246938272280111	0.22935	0.87246	0.46727	D	AEFDGBI	0.419949	0.48697	N	0.159152740574724	0.49246	3.127146	0.13292633994911	0.46243	2.873522	0.999999949714139	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.26	4.31	0.50718	1.781000	0.38274	1.753000	0.28490	0.599000	0.40250	0.902000	0.31475	0.926000	0.28431	0.853000	0.40368	0.0:0.9066:0.0:0.0934	10.142	0.41913	701	0.57775	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1197.98	33	chr16	50710614	.	C	T	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=808;ExcessHet=0.0000;FS=1.636;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.783;SOR=0.533	GT:AD:DP:GQ:PL	0/1:55,42:97:99:1212,0,1507	20	0	1	0
chr16	51141745	51141747	GCT	-	exonic	SALL1	.	nonframeshift deletion	SALL1:NM_001127892:exon2:c.184_186del:p.S62del	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	4	1373	56	3	86	148	0.0220798	.	.	192348	not_provided|Townes_syndrome|not_specified|Townes-Brocks_syndrome_1	MedGen:C3661900|MONDO:MONDO:0007142,MeSH:C536974,MedGen:C0265246,OMIM:PS107480,Orphanet:857|MedGen:CN169374|MONDO:MONDO:0054581,MedGen:C4551481,OMIM:107480,Orphanet:857	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0517	0.0288	0.0634	0.0551	0.0317	0.0524	0.0368	0.0607	0.0403035	6231	154602	rs769634214	0.0131	0.0455	0.0130	0.0132	0.0147	0.0130	0.0129	0.0145	0.0144	0.0032	0.0111	0.0126	0.0021	0.0102	0.0057	0.0147	0.0126	0.0047	0.0079	0.0082	0.0082	0.0077	0.0118	0.0076	0.0074	0.0111	0.0109	0.0023	0.0055	0.0087	0.0110	0.0031	0.0078	0.0068	0.0118	0.0081	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	12825.78	138	chr16	51141744	.	CGCT	C,CGCTGCT	12825.78	.	AC=2,3;AF=0.048,0.071;AN=42;BaseQRankSum=0.846;DP=1595;ExcessHet=0.0409;FS=1.139;InbreedingCoeff=0.3189;MLEAC=2,3;MLEAF=0.048,0.071;MQ=59.99;MQRankSum=0.00;QD=22.58;ReadPosRankSum=0.232;SOR=0.595	GT:AD:DP:GQ:PL	0/2:82,0,53:137:99:1784,2154,7046,0,3462,3044	17	0	1	0
chr16	88714906	88714906	C	T	exonic	CTU2	.	nonsynonymous SNV	CTU2:NM_001318513:exon12:c.C1138T:p.R380C	.	.	422	1096	4	0	0	4	0.00182149	.	.	1336385	not_provided|not_specified|Congenital_anomaly_of_kidney_and_urinary_tract	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.000	D	1.000	D	1.1	L	0.37	T	-0.633	T	0.196	T	0.841	4.045	20.8	4.96	2.452	0.214	16.328	0.333	0.124010016904	0.0009	0.00139776	0.0008	0.0003	0.0005	0.0002	0	0.0011	0.0011	0.0007	0.0008021	124	154602	rs139862860	0.0010	0.0010	0.0010	0.0010	0.0030	0.0010	0.0010	0.0019	0.0015	0.0001	0.0010	0.0006	0.0001	9.608e-05	0.0030	0.0012	0.0009	0.0006	0.0009	0.0009	0.0010	0.0008	0.0025	0.0008	0.0007	0.0019	0.0017	0.0002	0	0.0025	0.0003	0	0	0.0034	0.0012	0.0005	0.0004	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.97	0.77487	D	0.000005	0.62929	D	0.059199	1	0.81001	D	2.475	0.71894	M	0.37	0.57729	T	-5.55	0.96495	D	0.669	0.68429	-0.6335	0.63422	T	0.196	0.55100	T	10	0.03499955	0.01730	T	0.12401	0.80529	D	0.333	0.65522	.	.	0.693269563663	0.69063	0.5870375235625842	0.58633	.	.	0.528743028641	0.42857	T	0.104731	0.67706	T	-0.0858011	0.38768	T	0.0584245	0.74141	D	0.0607768665229965	0.07290	T	0.965603	0.87267	D	0.49833596	0.66998	0.4300465	0.66668	0.4568602	0.64476	0.42384407	0.66243	-9.622	0.76374	D	0.7428548585002239	0.82494	0.258	0.69979	B	.;.;.;.	.;.;.;.	4.457842	0.69356	25.4	0.9992298225199141	0.98852	0.46456	0.27764	N	AEFBHCI	0.320989	0.42392	N	0.224462922010875	0.52386	3.413175	0.165119332745765	0.47949	3.017584	0.999976245816698	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.96	4.96	0.65153	0.470000	0.21795	3.910000	0.40403	0.599000	0.40250	0.135000	0.23427	1.000000	0.68203	0.852000	0.40310	0.0:1.0:0.0:0.0	16.328	0.82828	895	0.25842	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	828.98	49	chr16	88714906	.	C	T	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.481e+00;DP=1189;ExcessHet=0.0000;FS=8.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-2.200e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/1:32,35:67:99:843,0,832	20	0	1	0
chr16	89769951	89769951	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon26:c.C2390T:p.A797V	Fanconi anemia, complementation group A, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	530421	Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_provided|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.55	T	0.002	B	0.001	B	0.261	N	1.000	N	0	N	-1.82	D	-0.737	T	0.285	T	0.041	0.919	8.743	-9.26	-2.861	-1.413	12.127	0.168	0.0352855611351	0.0003	0.000199681	0.0004	0.0006	8.678e-05	0	0	0.0005	0.0011	0.0002	0.0003105	48	154602	rs138248569	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0.0002	8.944e-05	3.826e-05	0	1.877e-05	0.0009	0.0002	0.0003	0.0001	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0002	0	0.0002	0	0	0.0004	0	0	0.537	0.06869	T	0.534	0.09965	T	0.001	0.07471	B	0.001	0.04355	B	0.261112	0.03709	N	1.536950	1	0.08975	N	-0.365	0.03101	N	-1.82	0.84047	D	0.12	0.05604	N	0.029	0.00666	-0.7371	0.58601	T	0.285	0.65724	T	10	0.026365042	0.00805	T	0.035286	0.56245	D	0.168	0.42943	.	.	0.7014751448	0.69889	0.07588697924729894	0.07524	.	.	0.329142212868	0.14805	T	0.068997	0.33598	T	-0.470256	0.00847	T	-0.597111	0.13054	T	0.00241497756322022	0.00025	T	0.542346	0.19192	T	0.01032362	0.00007	0.025166135	0.00552	0.009292143	0.00002	0.024710225	0.00495	-3.754	0.20342	T	0.10835342799951482	0.08924	0.064	0.01668	B	.;.	.;.	-1.040168	0.00715	0.021	0.68435054147734564	0.08657	0.00674	0.02901	N	AEFDBI	0.031507	0.03385	N	-1.76087640924679	0.00648	0.02796099	-1.84408196287035	0.00628	0.02791774	0.999998964789265	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	-9.26	0.00563	-1.329000	0.02784	-5.076000	0.01859	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.091000	0.17840	0.745:0.0:0.1636:0.0913	12.127	0.53225	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.04762	1786.11	40	chr16	89769951	.	G	A	1786.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.596;DP=906;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.453;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,33:70:99:800,0,1061	19	0	2	0
chr16	89816740	89816740	-	GGCCTTGCGTCGT	upstream	FANCA	dist=93	.	.	Fanconi anemia, complementation group A, Autosomal recessive	.	50	1018	318	136	0	590	0.224676	.	.	208324	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522963	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs11275235	0.2739	0.2644	0.2665	0.2809	0.9576	0.2728	0.2723	0.9471	0.9428	0.4104	0.4624	0.1766	0.9576	0.3603	0.2057	0.2121	0.3030	0.4074	0.3957	0.3973	0.3848	0.4071	0.9688	0.3931	0.3920	0.9463	0.9370	0.4731	0.2539	0.4650	0.1948	0.9688	0.3791	0.1747	0.3009	0.3658	0.4746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8497.7	6	chr16	89816740	.	A	AGGCCTTGCGTCGT	8497.7	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.389;DP=389;ExcessHet=0.0321;FS=22.573;InbreedingCoeff=0.3750;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=30.65;ReadPosRankSum=0.524;SOR=0.064	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0	10	5	6	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.938	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.095	12.96	5.06	2.751	6.097	18.302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2024.09	102	chr17	3648932	.	G	C	2024.09	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.410e+00;DP=2311;ExcessHet=20.9642;FS=326.408;InbreedingCoeff=-0.6490;MLEAC=17;MLEAF=0.425;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.04;SOR=11.378	GT:AD:DP:GQ:PL	0/1:55,21:93:74:74,0,1142	4	0	16	1
chr17	18124520	18124520	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon3:c.G3647A:p.R1216H,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1513	5	4	0	13	0.00427772	.	.	486171	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_provided|MYO15A-related_disorder	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.02	B	0.003	B	.	.	1.000	N	1.52	L	-3.67	D	-0.277	T	0.653	D	0.133	1.427	10.71	-0.091	-0.201	1.518	0.639	0.188	0.0179359380178	0.0002	0.000199681	0.0010	0.0001	0.0002	0.0001	0	0.0004	0	0.0056	0.0008667	134	154602	rs202148411	0.0007	0.0007	0.0005	0.0009	0.0057	0.0007	0.0007	0.0053	0.0051	2.987e-05	0.0003	3.826e-05	5.038e-05	0	0.0010	0.0004	0.0008	0.0057	0.0005	0.0005	0.0004	0.0006	0.0066	0.0004	0.0004	0.0048	0.0042	7.217e-05	0	0.0003	0	0	0	0.0034	0.0005	0	0.0066	0.07	0.35349	T	0.178	0.29639	T	0.02	0.18235	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	-3.67	0.95247	D	-3.5	0.68178	D	0.318	0.38129	-0.2768	0.75627	T	0.653	0.87920	D	9	0.010714948	0.00237	T	0.017936	0.39831	T	0.188	0.46444	.	.	0.491996647052	0.48833	0.4697696185806288	0.46895	.	.	0.217368483543	0.01163	T	0.059	0.80511	T	-0.298317	0.08819	T	-0.199646	0.54679	T	0.0163368098789863	0.00403	T	0.579642	0.20943	T	0.038133044	0.05022	0.07338558	0.15941	0.044029597	0.06967	0.072141185	0.15528	-4.851	0.35179	T	0.5754239349297257	0.64241	0.069	0.03266	B	.;.;.	.;.;.	1.328128	0.17329	13.10	0.96896723090384285	0.31519	0.11575	0.16724	N	AEFDGBIJ	0.102146	0.20498	N	-0.992002254049234	0.08774	0.4126724	-1.03338561745372	0.09056	0.4484929	3.53075473774056E-4	0.06668	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.49	-0.0909	0.12999	1.525000	0.35560	0.486000	0.18854	-0.127000	0.13314	0.006000	0.17386	0.002000	0.18203	0.292000	0.24309	0.3453:0.1194:0.2911:0.2442	0.639	0.00755	266	0.89551	Myosin head, motor domain;Myosin head, motor domain;Myosin head, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1327.98	34	chr17	18124520	.	G	A	1327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=799;ExcessHet=0.0000;FS=1.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.43;ReadPosRankSum=0.292;SOR=0.853	GT:AD:DP:GQ:PL	0/1:39,53:92:99:1342,0,829	20	0	1	0
chr17	61483613	61483613	-	GTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	345241	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003816	59	154602	rs149977669	0.0352	0.0418	0.0350	0.0354	0.0661	0.0348	0.0347	0.0628	0.0614	0.0661	0.0292	0.0748	0.0235	0.0349	0.0442	0.0336	0.0422	0.0325	0.0615	0.0639	0.0624	0.0604	0.0928	0.0604	0.0599	0.0901	0.0890	0.0928	0.0338	0.0454	0.0856	0.0393	0.0354	0.0772	0.0530	0.0633	0.0469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	4/4:0,0,0,0,8,0,0:8:23:.:.:353,354,354,354,354,354,354,354,354,354,23,24,24,24,0,354,354,354,354,24,354,354,354,354,354,24,354,354	2	1	3	0
chr17	61483613	61483613	-	GTGTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	346649	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004204	65	154602	rs149977669	0.0376	0.0398	0.0379	0.0373	0.0493	0.0372	0.0370	0.0464	0.0453	0.0493	0.0324	0.0746	0.0068	0.0466	0.0411	0.0397	0.0465	0.0165	0.0777	0.0806	0.0796	0.0757	0.0931	0.0765	0.0760	0.0911	0.0903	0.0654	0.1030	0.0654	0.1510	0.0092	0.0656	0.0846	0.0931	0.0777	0.0204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	4/4:0,0,0,0,8,0,0:8:23:.:.:353,354,354,354,354,354,354,354,354,354,23,24,24,24,0,354,354,354,354,24,354,354,354,354,354,24,354,354	2	1	3	0
chr17	61483613	61483613	-	GTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	339436	Coxopodopatellar_syndrome|not_provided	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014243	2202	154602	rs149977669	0.0596	0.0681	0.0566	0.0623	0.0909	0.0591	0.0589	0.0887	0.0879	0.0854	0.0509	0.0943	0.0511	0.0502	0.0660	0.0547	0.0693	0.0909	0.1012	0.1026	0.1036	0.0984	0.1398	0.0997	0.0992	0.1302	0.1264	0.1162	0.0689	0.0887	0.1141	0.0554	0.0666	0.0846	0.1010	0.1055	0.1398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	5148.57	18	chr17	61483613	.	A	AGTGTGTGTGT,AGTGT,AGTGTGTGTGTGT,AGTGTGTGT,AGT,AGTGTGT	5148.57	.	AC=6,4,2,4,10,3;AF=0.143,0.095,0.048,0.095,0.238,0.071;AN=42;BaseQRankSum=-2.100e-01;DP=507;ExcessHet=1.3217;FS=2.433;InbreedingCoeff=0.0320;MLEAC=4,4,2,4,10,3;MLEAF=0.095,0.095,0.048,0.095,0.238,0.071;MQ=60.00;MQRankSum=0.00;QD=27.68;ReadPosRankSum=0.00;SOR=1.700	GT:AD:DP:GQ:PGT:PID:PL:PS	4/4:0,0,0,0,8,0,0:8:23:.:.:353,354,354,354,354,354,354,354,354,354,23,24,24,24,0,354,354,354,354,24,354,354,354,354,354,24,354,354	2	1	3	0
chr17	63964507	63964507	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon9:c.G1413A:p.M471I,	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	1	1503	17	1	0	19	0.00628099	.	.	339683	Potassium-aggravated_myotonia|Familial_hyperkalemic_periodic_paralysis|not_provided|Hypokalemic_periodic_paralysis,_type_2|Congenital_myasthenic_syndrome_16|Paramyotonia_congenita_of_Von_Eulenburg	MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MedGen:C3661900|MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681|MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	0.889	P	0.341	B	0.000	D	0.558	D	1.32	L	-3.84	D	0.548	D	0.727	D	0.374	2.225	13.40	4.9	2.533	1.177	8.495	0.458	0.20939919042	.	0.000798722	0.0007	0	0	0	0	0.0003	0.0011	0.0039	0.0005886	91	154602	rs527384137	0.0003	0.0003	0.0002	0.0004	0.0045	0.0003	0.0003	0.0032	0.0029	0	2.236e-05	0.0005	0	1.873e-05	0.0045	7.825e-05	0.0005	0.0034	0.0001	0.0002	7.706e-05	0.0002	0.0029	9.733e-05	8.249e-05	0.0018	0.0014	0	0	0	0.0006	0	0	0.0034	5.879e-05	0.0005	0.0029	0.101	0.30375	T	0.341	0.17964	T	0.889	0.48869	P	0.341	0.42432	B	0.000025	0.55875	D	0.157058	0.558257	0.32191	D	0.72	0.18721	N	-3.84	0.95826	D	-1.61	0.38734	N	0.292	0.33030	0.548	0.91205	D	0.727	0.90665	D	10	0.012795389	0.00274	T	0.209399	0.87197	D	0.458	0.75619	0.477	0.55502	0.813402561589	0.81164	0.3318528599119761	0.33098	0.27892697211	0.30372	0.485950410366	0.36878	T	0.374278	0.73811	T	-0.171903	0.24946	T	-0.0211762	0.68951	D	0.100660812212562	0.12430	T	0.940956	0.77922	D	0.46488395	0.64975	0.49076197	0.70540	0.46488395	0.64975	0.49076197	0.70540	-6.067	0.46836	T	0.09103757524593284	0.05734	0.627	0.69995	P	.	.	3.252728	0.44454	21.9	0.98419421969431442	0.41266	0.84311	0.43393	D	AEFDGBI	0.292559	0.40340	N	0.215408235574135	0.51946	3.372059	0.279162730105717	0.54324	3.59776	0.0505720881189988	0.14844	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.9	4.9	0.63643	1.695000	0.37381	4.034000	0.41364	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.1606:0.6615:0.1779:0.0	8.495	0.32282	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	1011.98	35	chr17	63964507	.	C	T	1011.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.090e-01;DP=819;ExcessHet=0.0000;FS=5.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-1.227e+00;SOR=1.242	GT:AD:DP:GQ:PL	0/1:56,41:97:99:1026,0,1450	20	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|Psoriasis_2|Pityriasis_rubra_pilaris	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	58196.26	104	chr17	80184264	.	G	A	58196.26	.	AC=33;AF=0.786;AN=42;BaseQRankSum=0.515;DP=2582;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=33;MLEAF=0.786;MQ=60.00;MQRankSum=0.00;QD=23.56;ReadPosRankSum=0.827;SOR=0.756	GT:AD:DP:GQ:PL	1/1:0,127:127:99:3998,381,0	0	12	9	0
chr17	80202434	80202434	T	A	UTR3	CARD14	NM_001257970:c.*10T>A	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	3	581	641	245	52	1183	0.49324	.	.	390303	not_provided|Psoriasis_2|Pityriasis_rubra_pilaris|not_specified	MedGen:C3661900|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4160	0.35623	0.4195	0.2494	0.2489	0.4706	0.4337	0.4886	0.4391	0.3357	0.411004	63542	154602	rs8069255	0.4789	0.4785	0.4821	0.4756	0.5504	0.4779	0.4775	0.5443	0.5418	0.2463	0.2746	0.4213	0.5504	0.4314	0.4130	0.5079	0.4544	0.3360	0.4042	0.4042	0.4084	0.3999	0.5012	0.4015	0.4004	0.4967	0.4949	0.2537	0.7039	0.3372	0.4129	0.4998	0.4307	0.3946	0.5012	0.4019	0.3226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	15842.43	70	chr17	80202434	.	T	A,G	15842.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.587e+00;DP=1428;ExcessHet=3.1640;FS=0.564;InbreedingCoeff=-0.1407;MLEAC=14,1;MLEAF=0.333,0.024;MQ=60.00;MQRankSum=0.00;QD=14.61;ReadPosRankSum=-5.000e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:48,44,0:92:99:1122,0,1276,1266,1408,2674	8	2	10	0
chr17	80205094	80205094	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_024110:exon18:c.C2458T:p.R820W	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	YES	50	677	568	227	0	1022	0.430135	.	.	390229	Psoriasis_2|Pityriasis_rubra_pilaris|not_provided|not_specified|Autoinflammatory_syndrome	MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.912	P	0.17	B	0.045	N	0.149	P	1.04	L	3.41	T	-0.952	T	0.000	T	0.152	1.135	9.626	1.85	0.706	3.132	4.371	0.108	.	0.4093	0.353035	0.4244	0.2458	0.2536	0.4728	0.4509	0.4913	0.4363	0.3466	0.416469	64387	154602	rs11652075	0.4774	0.4773	0.4804	0.4744	0.5465	0.4765	0.4761	0.5404	0.5379	0.2319	0.2729	0.4216	0.5465	0.4308	0.4053	0.5063	0.4514	0.3424	0.3995	0.3997	0.4035	0.3954	0.4991	0.3969	0.3958	0.4946	0.4928	0.2409	0.7044	0.3346	0.4127	0.4952	0.4305	0.3844	0.4991	0.4020	0.3313	0.004	0.65419	D	0.035	0.52389	D	0.912	0.50421	P	0.17	0.35299	B	0.044886	0.23592	N	0.424901	0.99932	0.21372	P	1.04	0.26193	L	3.41	0.05574	T	-3.87	0.72594	D	0.111	0.10626	-0.9523	0.40573	T	0.000	0.00011	T	9	0.00018051267	0.00010	T	.	.	.	0.108	0.30607	.	.	.	.	0.6907763373857173	0.69017	0.3656648137	0.38159	0.328153610229	0.14655	T	0.159702	0.50324	T	-0.676618	0.00050	T	-0.600871	0.12738	T	0.0284327208824887	0.01751	T	0.822018	0.48145	T	0.073126465	0.16318	0.09188487	0.21627	0.08949082	0.20911	0.07744421	0.17251	-9.283	0.69500	D	0.35371682974795465	0.45071	0.107	0.20117	B	.;.;.	.;.;.	2.706086	0.35358	19.88	0.99284288146199018	0.58008	0.56796	0.30209	D	AEFDBCI	0.414520	0.48375	N	-0.377503514459143	0.26272	1.432592	-0.419791073847034	0.24417	1.336925	0.753767999298708	0.23401	0.554377	0.28877	0	0.550933	0.16991	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.09	1.85	0.24418	2.561000	0.45567	2.570000	0.33360	-0.249000	0.07183	0.963000	0.33788	0.978000	0.30204	0.008000	0.08271	0.3814:0.4907:0.0:0.128	4.371	0.10680	862	0.33134	.;.;.	CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood	RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|SGSH|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|SGSH	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	rs11652075	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.3333	29993.43	146	chr17	80205094	.	C	T	29993.43	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.730e-01;DP=2358;ExcessHet=2.0984;FS=0.541;InbreedingCoeff=-0.0714;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=0.084;SOR=0.733	GT:AD:DP:GQ:PL	0/1:84,88:172:99:2211,0,2028	9	2	10	0
chr18	12329645	12329645	G	A	exonic	AFG3L2	.	nonsynonymous SNV	AFG3L2:NM_006796:exon17:c.C2314T:p.L772F,	Spastic ataxia 5, autosomal recessive, Autosomal recessive;Spinocerebellar ataxia 28, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	211841	not_specified|not_provided|Spinocerebellar_ataxia_type_28|Spastic_ataxia_5	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012450,MedGen:C1853249,OMIM:610246,Orphanet:101109|MONDO:MONDO:0013776,MedGen:C3280977,OMIM:614487,Orphanet:313772	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	1.0	D	1.0	D	0.000	D	1.000	D	2.85	M	-3.33	D	0.812	D	0.878	D	0.556	4.772	26.8	5.64	2.816	9.420	20.063	0.584	0.119087591298	0.0015	0.000798722	0.0018	0.0008	0.0003	0	0.0029	0.0026	0	0.0008	0.0017917	277	154602	rs117182113	0.0027	0.0027	0.0028	0.0026	0.0033	0.0026	0.0026	0.0032	0.0032	0.0007	0.0002	3.826e-05	0	0.0023	0	0.0033	0.0014	0.0006	0.0015	0.0015	0.0018	0.0013	0.0026	0.0014	0.0013	0.0023	0.0022	0.0006	0	6.54e-05	0	0	0.0022	0	0.0026	0.0005	0.0008	0.042	0.41637	D	0.11	0.37310	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.18	0.88827	M	-3.33	0.93928	D	-3.7	0.70553	D	0.548	0.57433	0.812	0.94560	D	0.878	0.95935	D	10	0.019837528	0.00448	T	0.119088	0.79930	D	0.584	0.83305	.	.	0.960376401545	0.95995	0.3995417082356818	0.39869	0.74875396502	0.63655	0.683334708214	0.64747	T	0.643389	0.89091	D	-0.0790054	0.39875	T	0.114691	0.77883	D	0.0523161474679431	0.05901	T	0.909009	0.67793	D	0.40293422	0.60935	0.2696299	0.52845	0.40293422	0.60936	0.2696299	0.52844	-10.99	0.79604	D	.	.	0.811	0.77821	P	.	.	5.342577	0.89640	31	0.9989384233832731	0.96742	0.98654	0.85187	D	AEFBCI	0.902060	0.84949	D	0.827967866864812	0.87822	9.352447	0.744475700703725	0.85744	8.67281	0.999999999999999	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.64	5.64	0.86480	9.602000	0.97623	11.825000	0.97352	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:1.0:0.0	20.063	0.97683	690	0.58899	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.02381	2339.98	34	chr18	12329645	.	G	A	2339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.672;DP=1013;ExcessHet=0.0000;FS=2.280;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=0.723;SOR=0.819	GT:AD:DP:GQ:PL	0/1:130,97:227:99:2354,0,3263	20	0	1	0
chr18	46489036	46489036	G	A	exonic	LOXHD1	.	synonymous SNV	LOXHD1:NM_001145473:exon6:c.C702T:p.D234D	Deafness, autosomal recessive 77, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	347050	Autosomal_recessive_nonsyndromic_hearing_loss_77|not_provided|Hearing_loss,_autosomal_recessive	MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:C3661900|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs559560065	9.504e-05	9.098e-05	0.0001	7.244e-05	0.0003	8.172e-05	7.631e-05	0.0002	0.0002	9.494e-05	0.0002	0	0.0003	0	0	8.619e-05	0.0002	5.048e-05	0.0001	0.0001	0.0002	0.0001	0.0006	9.149e-05	7.704e-05	0.0002	8.44e-05	0.0002	0	0	0	0.0006	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0.02381	2817.98	37	chr18	46489036	.	G	A	2817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.76;DP=943;ExcessHet=0.0000;FS=1.008;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-5.710e-01;SOR=0.781	GT:AD:DP:GQ:PL	0/1:115,116:231:99:2832,0,2576	20	0	1	0
chr18	46507646	46507646	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001145473:exon4:c.C301T:p.R101W	Deafness, autosomal recessive 77, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	230917	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_77|not_provided	MedGen:CN169374|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.627	P	.	.	0.892	N	1.04	L	1.53	T	-1.040	T	0.079	T	0.378	1.445	10.77	1.9	0.531	1.170	11.523	0.154	0.0221032658502	0.0004	.	0.0008	0	0	0	0	0.0005	0.0042	0.0016	0.0001423	22	154602	rs201994383	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0022	0.0002	2.801e-05	0.0005	0	8.118e-05	0.0039	0.0001	0.0004	0.0015	0.0001	0.0001	8.995e-05	0.0002	0.0008	9.739e-05	8.254e-05	0.0003	0.0002	7.217e-05	0	6.537e-05	0.0017	0.0002	0.0002	0	7.35e-05	0	0.0008	0.013	0.59928	D	0.02	0.62352	D	0.997	0.70673	D	0.627	0.51631	P	.	.	.	.	0.934216	0.27867	N	.	.	.	1.53	0.30401	T	-3.29	0.68532	D	0.241	0.33250	-1.0401	0.17283	T	0.079	0.31526	T	9	0.03621626	0.01909	T	0.022103	0.44952	T	0.154	0.40340	.	.	0.3085936734	0.30458	0.6855143700331494	0.68490	.	.	0.437417447567	0.30224	T	0.058536	0.30868	T	-0.440209	0.01290	T	-0.440485	0.28755	T	0.0933339290138825	0.11608	T	0.922708	0.71908	D	0.14633803	0.33504	0.16563064	0.38306	0.119899414	0.28223	0.18794675	0.42055	-7.176	0.57912	T	.	.	0.136	0.44201	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.024683	0.59468	24.1	0.93081625396445433	0.22701	0.79935	0.39711	D	AEFBI	0.782590	0.71383	D	-0.0194139625491323	0.40977	2.44293	-0.0100512462407786	0.39260	2.325097	0.00389632127999663	0.10327	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	1.9	0.24770	1.211000	0.31987	0.417000	0.18177	0.504000	0.22967	1.000000	0.71638	0.402000	0.24716	0.996000	0.76049	0.0:0.0955:0.4753:0.4292	11.523	0.49814	945	0.12563	.;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1765.98	35	chr18	46507646	.	G	A	1765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-02;DP=891;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=0.682;SOR=0.659	GT:AD:DP:GQ:PL	0/1:114,79:193:99:1780,0,2805	20	0	1	0
chr18	53157503	53157503	G	A	exonic	DCC	.	nonsynonymous SNV	DCC:NM_005215:exon8:c.G1409A:p.G470D,	Colorectal cancer, somatic;Esophageal carcinoma, somatic;Mirror movements 1, Autosomal dominant	.	1	1516	5	0	0	5	0.00164636	.	.	185695	Mirror_movements_1|Amenorrhea|not_provided	MONDO:MONDO:0008002,MedGen:C1834870,OMIM:157600,Orphanet:238722|Human_Phenotype_Ontology:HP:0000141,MONDO:MONDO:0001836,MedGen:C0002453|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.09	T	0.72	P	0.775	P	0.000	D	1.000	D	1.925	M	0.39	T	-0.642	T	0.230	T	0.837	3.021	16.08	5.4	2.546	7.067	17.966	0.344	0.0186963007183	0.0046	0.000798722	0.0032	0.0008	0.0010	0.0001	0.0021	0.0052	0.0066	6.061e-05	0.0032276	499	154602	rs141813053	0.0043	0.0043	0.0045	0.0042	0.0052	0.0042	0.0042	0.0051	0.0051	0.0007	0.0012	0.0008	2.519e-05	0.0023	0.0031	0.0052	0.0041	0.0001	0.0029	0.0029	0.0032	0.0027	0.0052	0.0027	0.0026	0.0047	0.0046	0.0010	0	0.0014	0	0	0.0022	0.0034	0.0052	0.0024	0.0010	0.001	0.78490	D	0.003	0.76473	D	0.72	0.42342	P	0.775	0.57058	P	0.000001	0.84330	D	0.000000	0.999916	0.53665	D	1.74	0.45129	L	0.39	0.57419	T	-4.79	0.80595	D	0.662	0.69825	-0.6421	0.63056	T	0.230	0.59521	T	10	0.009430081	0.00213	T	0.018696	0.40848	T	0.344	0.66582	.	.	0.819190257506	0.81748	0.49064139777321825	0.48984	0.271221807874	0.29642	0.600528478622	0.52979	T	0.355735	0.72269	T	-0.116387	0.33715	T	0.0630708	0.74449	D	0.0460880255931831	0.04800	T	0.948305	0.80601	D	0.8650983	0.88477	0.88993573	0.94262	0.854984	0.87708	0.9052229	0.95349	-8.518	0.64548	D	.	.	0.245	0.47976	B	.;.;.	.;.;.	4.364282	0.67135	25.1	0.9731862044675279	0.33365	0.98425	0.82644	D	AEFI	0.866774	0.78631	D	0.380686620629782	0.60376	4.225858	0.484920809019952	0.66990	5.024568	0.999012098707405	0.38212	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	7.294000	0.78101	9.919000	0.82489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.966	0.89020	643	0.63827	Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1532.98	34	chr18	53157503	.	G	A	1532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.286;DP=858;ExcessHet=0.0000;FS=1.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=0.436;SOR=0.519	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1547,0,1483	20	0	1	0
chr18	57580222	57580222	G	A	intronic	FECH	.	.	.	Protoporphyria, erythropoietic, autosomal recessive, Autosomal recessive	.	2	910	527	83	0	693	0.275766	.	.	15589	Protoporphyria,_erythropoietic,_1|Jaundice|Erythema|not_provided	MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2588	0.334665	0.2467	0.4468	0.4373	0.3093	0.2329	0.1736	0.2174	0.2577	0.238063	36805	154602	rs2269219	0.1942	0.1944	0.1942	0.1942	0.4542	0.1936	0.1934	0.4482	0.4457	0.4542	0.3983	0.2246	0.3662	0.2313	0.2387	0.1638	0.2062	0.2567	0.2741	0.2744	0.2705	0.2778	0.4470	0.2719	0.2710	0.4416	0.4394	0.4470	0.0822	0.3025	0.2145	0.3240	0.2456	0.3027	0.1704	0.2623	0.2512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	7371.28	36	chr18	57580222	.	G	A	7371.28	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-1.898e+00;DP=793;ExcessHet=2.2868;FS=2.069;InbreedingCoeff=-0.1085;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=18.71;ReadPosRankSum=0.174;SOR=0.832	GT:AD:DP:GQ:PL	0/1:17,24:41:99:708,0,513	11	1	9	0
chr19	7630619	7630619	A	G	exonic	PET100	.	nonsynonymous SNV	PET100:NM_001171155:exon2:c.A74G:p.N25S,	Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial	.	428	1089	5	0	0	5	0.00229043	.	.	1208892	Mitochondrial_complex_4_deficiency,_nuclear_type_12|not_provided	MONDO:MONDO:0033646,MedGen:C5436695,OMIM:619055|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.996	D	0.99	D	.	.	0.985	D	.	.	.	.	-0.173	T	0.345	T	0.282	4.530	24.4	5.29	1.984	6.183	12.745	0.328	0.136500655648	0.0018	0.00139776	0.0013	0	0.0065	0	0	0.0012	0	0.0018	0.000401	62	154602	rs184325854	0.0022	0.0021	0.0022	0.0022	0.0035	0.0021	0.0021	0.0030	0.0028	0.0002	0.0035	0	0	0.0002	0	0.0024	0.0026	0.0017	0.0015	0.0015	0.0016	0.0013	0.0025	0.0013	0.0013	0.0019	0.0018	0.0005	0	0.0025	0	0.0002	0.0004	0	0.0022	0.0033	0.0012	.	.	.	0.014	0.62352	D	0.996	0.68779	D	0.99	0.78936	D	.	.	.	.	0.985283	0.40262	D	.	.	.	.	.	.	.	.	.	0.562	0.68342	-0.1734	0.78345	T	0.345	0.71004	T	7	0.012122005	0.00262	T	0.136501	0.81898	D	.	.	.	.	0.154104182512	0.14974	0.9764139223726237	0.97631	.	.	0.483816355467	0.36582	T	0.331509	0.70158	T	-0.386201	0.02845	T	-0.330578	0.41405	T	0.0728936245578348	0.09051	T	0.816518	0.48765	T	0.82974094	0.85884	0.84648657	0.91269	0.82974094	0.85886	0.84648657	0.91270	-6.154	0.47550	T	0.5080299488642671	0.58218	0.219	0.49836	B	.;.	.;.	5.662598	0.92885	33	0.99871757918911552	0.94902	0.86717	0.46058	D	AEFGBCI	0.885638	0.81634	D	0.646195911734215	0.76124	6.428718	0.64037449492989	0.77897	6.768403	0.999999997388612	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.29	5.29	0.74430	5.562000	0.67049	10.980000	0.84596	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	12.745	0.56652	867	0.32089	.;.	.	.	.	.	.	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	0.04762	6916.08	33	chr19	7630619	.	A	G	6916.08	.	AC=2;AF=0.048;AN=42;DP=967;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.87;SOR=0.904	GT:AD:DP:GQ:PL	1/1:0,217:217:99:6944,650,0	20	1	0	0
chr19	19196988	19196988	C	T	exonic	RFXANK	.	synonymous SNV	RFXANK:NM_001278728:exon3:c.C210T:p.T70T	MHC class II deficiency, complementation group B, Autosomal recessive	.	0	1301	207	14	0	235	0.082834	.	.	332953	not_specified|MHC_class_II_deficiency	MedGen:CN169374|MONDO:MONDO:0008855,MedGen:C2931418,OMIM:PS209920,Orphanet:572	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0456	0.028754	0.0523	0.0107	0.0270	0.0002	0.0562	0.0697	0.0583	0.0508	0.0514612	7956	154602	rs72997200	0.0628	0.0628	0.0621	0.0635	0.0723	0.0625	0.0623	0.0677	0.0675	0.0099	0.0334	0.0877	0.0001	0.0583	0.0723	0.0681	0.0634	0.0532	0.0460	0.0460	0.0470	0.0449	0.0674	0.0451	0.0447	0.0658	0.0652	0.0112	0.0088	0.0462	0.0871	0.0006	0.0525	0.1054	0.0674	0.0540	0.0466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.09524	3739.9	33	chr19	19196988	.	C	T	3739.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=3.81;DP=824;ExcessHet=0.0082;FS=12.631;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=19.68;ReadPosRankSum=-6.810e-01;SOR=1.495	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2116,215,0	18	1	2	0
chr19	44908684	44908684	T	C	exonic	APOE	.	nonsynonymous SNV	APOE:NM_000041:exon4:c.T388C:p.C130R	Alzheimer disease-2, Autosomal dominant;Hyperlipoproteinemia, type III;Lipoprotein glomerulopathy;Sea-blue histiocyte disease, Autosomal recessive	YES	1	1361	149	11	0	171	0.0591082	.	.	32903	Primary_degenerative_dementia_of_the_Alzheimer_type,_presenile_onset|Alzheimer_disease_4|not_provided|Lipoprotein_glomerulopathy|Alzheimer_disease_2|Alzheimer_disease|Warfarin_response	MedGen:C5779573|MONDO:MONDO:0011743,MedGen:C1847200,OMIM:606889,Orphanet:1020|MedGen:C3661900|MONDO:MONDO:0012725,MedGen:C2673196,OMIM:611771,Orphanet:329481|MONDO:MONDO:0007089,MedGen:C1863051,OMIM:104310,Orphanet:1020|Human_Phenotype_Ontology:HP:0002511,Human_Phenotype_Ontology:HP:0006878,Human_Phenotype_Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020|MONDO:MONDO:0007390,MedGen:C0750384,OMIM:122700	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other|risk_factor	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.149	N	1.000	P	-1.7	N	-0.24	T	-1.013	T	0.000	T	0.432	-1.965	0.007	3.02	1.239	0.121	3.038	0.229	.	0.1416	0.150559	0.1843	0.2732	0.2145	0.1504	0.3266	0.2078	0.1706	0.1102	0.0990673	15316	154602	rs429358	0.1476	0.1464	0.1493	0.1458	0.2266	0.1470	0.1468	0.2223	0.2205	0.2266	0.1043	0.1205	0.0979	0.1912	0.0681	0.1514	0.1393	0.1004	0.1574	0.1574	0.1542	0.1607	0.2157	0.1557	0.1550	0.2120	0.2104	0.2157	0.1363	0.1133	0.1191	0.0977	0.1952	0.0685	0.1379	0.1148	0.1046	1.0	0.00964	T	0.829	0.03728	T	0.0	0.02946	B	0.001	0.04355	B	0.148941	0.18033	N	0.486559	1	0.08975	P	-1.465	0.00537	N	-0.24	0.80899	T	4.36	0.00049	N	0.051	0.02272	-1.0126	0.26101	T	0.000	0.00011	T	9	0.0037242472	0.00069	T	.	.	.	0.229	0.52916	.	.	.	.	0.594833485195711	0.59413	1.05397380339	0.76260	0.549231410027	0.45749	T	0.098671	0.40272	T	-0.475948	0.00781	T	-0.312622	0.43376	T	0.000220162258131143	0.00001	T	0.241876	0.03871	T	0.21238507	0.43588	0.19668251	0.43410	0.31240633	0.53993	0.24847607	0.50398	1.131	0.00116	T	0.021989899378371917	0.00011	0.036	0.00009	B	.;.;.;.	.;.;.;.	1.966721	0.24982	16.60	0.21739704419042166	0.00842	0.01144	0.04144	N	AEFDBCI	0.230364	0.35375	N	-1.33018657744613	0.03335	0.1487916	-1.15728233661909	0.06638	0.3201928	0.193817606357278	0.18033	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	5.25	3.02	0.33970	0.840000	0.27253	.	.	-0.256000	0.07045	0.892000	0.31242	1.000000	0.68203	0.485000	0.28678	0.1694:0.5443:0.1863:0.1001	3.038	0.05759	889	0.27310	.;.;.;.	APOC1|APOC1|CTB-129P6.4|CTB-171A8.1	Adrenal_Gland|Esophagus_Mucosa|Esophagus_Muscularis|Thyroid	APOE|TOMM40|TOMM40	Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	1	0	0	0	0	0	0	0	0	0	0	0.09524	4129.92	72	chr19	44908684	.	T	C	4129.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.766e+00;DP=948;ExcessHet=0.6776;FS=1.845;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=0.489;SOR=0.822	GT:AD:DP:GQ:PL	0/1:42,47:89:99:1163,0,1141	17	0	4	0
chr19	47695060	47695060	C	T	exonic	BICRA	.	nonsynonymous SNV	BICRA:NM_015711:exon9:c.C3056T:p.P1019L,	.	.	424	1087	10	1	0	12	0.00548948	.	.	2818506	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.015	B	0.004	B	.	.	0.984	N	0.55	N	1.51	T	-1.054	T	0.042	T	0.206	1.436	10.74	2.36	1.633	0.372	3.742	0.025	0.253149797867	.	0.000399361	0.0023	0	0	0	0	0.0004	0	0.0032	0.0002587	40	154602	rs566879134	0.0004	0.0004	0.0004	0.0005	0.0019	0.0004	0.0004	0.0013	0.0012	0.0002	0.0004	0.0004	2.809e-05	2.901e-05	0.0019	0.0004	0.0006	0.0016	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0006	0.0005	0.0004	0	0.0010	0.0009	0.0002	0	0	0.0004	0.0009	0.0012	0.004	0.65419	D	0.01	0.65728	D	0.015	0.17086	B	0.004	0.10090	B	.	.	.	.	0.983767	0.24857	N	.	.	.	1.51	0.30937	T	-1.2	0.30555	N	0.271	0.33469	-1.0544	0.13198	T	0.042	0.17952	T	9	0.012189627	0.00263	T	0.25315	0.89200	D	0.025	0.05312	0.245	0.17984	0.043077524339	0.03247	0.3517732396465989	0.35091	0.227543361675	0.25305	0.709222197533	0.68480	T	0.010615	0.09570	T	-0.54006	0.00335	T	-0.56755	0.15675	T	0.0198505725061431	0.00687	T	0.691431	0.30091	T	0.05061061	0.09171	0.053140286	0.08894	0.05061061	0.09171	0.053140286	0.08893	-5.312	0.40062	T	.	.	0.084	0.12181	B	.;.	.;.	2.628707	0.34181	19.55	0.98929420217650343	0.48713	0.14624	0.18501	N	AEFBI	0.025813	0.01832	N	-0.615495391132795	0.18479	0.9596747	-0.554452174077509	0.20687	1.115737	0.0737832675596922	0.15645	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.43	2.36	0.28258	0.183000	0.16729	4.263000	0.42814	0.450000	0.21304	0.030000	0.20431	0.957000	0.29195	0.013000	0.09966	0.2443:0.6208:0.0:0.1349	3.742	0.08061	695	0.58372	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	730.11	33	chr19	47695060	.	C	T	730.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.51;DP=667;ExcessHet=0.1072;FS=1.065;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-3.600e-01;SOR=0.894	GT:AD:DP:GQ:PL	0/1:18,10:28:99:226,0,477	19	0	2	0
chr19	48965756	48965756	A	C	intronic	FTL	.	.	.	Hyperferritinemia-cataract syndrome, Autosomal dominant;L-ferritin deficiency, dominant and recessive, Autosomal recessive, Autosomal dominant;Neurodegeneration with brain iron accumulation 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	882912	Hereditary_hyperferritinemia_with_congenital_cataracts|Neuroferritinopathy	MONDO:MONDO:0010952,MedGen:C1833213,OMIM:600886,Orphanet:163|MONDO:MONDO:0011638,MedGen:C1853578,OMIM:606159,Orphanet:157846	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.303e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs769222073	9.577e-06	9.577e-06	1.225e-05	6.876e-06	0.0001	5.56e-06	4.35e-06	7.125e-05	5.482e-05	0	0	0	0	0	0	0	4.968e-05	0.0001	1.316e-05	1.314e-05	0	2.693e-05	0.0004	2.19e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1875.98	34	chr19	48965756	.	A	C	1875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.606;DP=914;ExcessHet=0.0000;FS=0.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.91;MQRankSum=0.00;QD=10.36;ReadPosRankSum=1.81;SOR=0.639	GT:AD:DP:GQ:PL	0/1:106,75:181:99:1890,0,3078	20	0	1	0
chr19	57231146	57231146	-	C	UTR5	AURKC	NM_001015878:c.-103_-102insC	.	.	Spermatogenic failure 5, Autosomal recessive	.	65	466	590	401	0	1392	0.598967	.	.	334414	Spermatogenic_Failure|not_provided	MONDO:MONDO:0004983,MedGen:C3553794,OMIM:PS258150|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4072	0.3027	0.4348	0.1299	0.4643	0.4440	0.3444	0.4291	0.0002135	33	154602	rs1222518063	0.5018	0.4825	0.5004	0.5033	0.5193	0.5008	0.5004	0.5182	0.5177	0.3396	0.4275	0.5439	0.1515	0.5479	0.4851	0.5193	0.4757	0.5051	0.4596	0.4598	0.4598	0.4594	0.5284	0.4567	0.4556	0.5239	0.5220	0.3529	0.6520	0.4464	0.5419	0.1650	0.5417	0.4795	0.5284	0.4558	0.4827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	15157.31	51	chr19	57231146	.	G	GC	15157.31	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.507;DP=1282;ExcessHet=3.4384;FS=0.000;InbreedingCoeff=-0.1455;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=15.29;ReadPosRankSum=0.460;SOR=0.668	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1983,183,0	5	4	12	0
chr20	3234173	3234173	T	G	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	YES	0	589	691	242	0	1175	0.499363	.	.	257346	Corneal_dystrophy|Corneal_dystrophy-perceptive_deafness_syndrome|Congenital_hereditary_endothelial_dystrophy_of_cornea|not_specified|not_provided	Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4809	0.479832	0.4365	0.6500	0.4606	0.5707	0.5076	0.4051	0.4592	0.3121	0.0001537	4	26028	rs3827075	0.4110	0.4110	0.4142	0.4077	0.6526	0.4101	0.4098	0.6453	0.6423	0.6526	0.4601	0.3812	0.5478	0.5051	0.3844	0.3997	0.4275	0.3151	0.4855	0.4856	0.4826	0.4886	0.6474	0.4826	0.4814	0.6409	0.6382	0.6474	0.4582	0.4720	0.3725	0.5688	0.5216	0.3596	0.3968	0.4409	0.3309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	1	0.3333	35431.43	188	chr20	3234173	.	T	G	35431.43	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.203e+00;DP=2845;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-5.900e-02;SOR=0.710	GT:AD:DP:GQ:PL	0/1:101,98:199:99:2255,0,2357	9	2	10	0
chr20	10408774	10408774	T	C	exonic	MKKS	.	nonsynonymous SNV	MKKS:NM_018848:exon4:c.A1015G:p.I339V	Bardet-Biedl syndrome 6, Autosomal recessive;McKusick-Kaufman syndrome, Autosomal recessive	YES	3	1496	21	2	0	25	0.00828638	.	.	106463	not_provided|McKusick-Kaufman_syndrome|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_6|not_specified	MedGen:C3661900|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orphanet:2473|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231,Orphanet:110|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.008	B	0.042	B	0.977	N	1.000	N	0.515	N	-1.3	T	-0.868	T	0.258	T	0.662	0.374	6.028	-4.87	-0.854	-2.046	7.534	0.489	0.0291197997771	0.0030	0.00219649	0.0044	0.0002	0.0023	0	0.0063	0.0054	0.0044	0.0060	0.0042173	652	154602	rs137853909	0.0042	0.0042	0.0041	0.0043	0.0090	0.0041	0.0041	0.0071	0.0064	0.0005	0.0024	0.0023	2.521e-05	0.0081	0.0090	0.0043	0.0040	0.0056	0.0036	0.0036	0.0036	0.0036	0.0050	0.0034	0.0033	0.0046	0.0044	0.0004	0	0.0048	0.0029	0	0.0074	0.0102	0.0050	0.0057	0.0039	0.421	0.09806	T	0.821	0.03817	T	0.008	0.14655	B	0.042	0.24114	B	0.977114	0.07816	N	1.008790	0.999634	0.20820	N	0.575	0.15311	N	-1.3	0.79571	T	-0.52	0.16187	N	0.663	0.68950	-0.8682	0.50664	T	0.258	0.62823	T	10	0.009791404	0.00220	T	0.02912	0.51684	D	0.489	0.77656	.	.	0.455816718377	0.45207	0.266399546238906	0.26552	0.09311429178	0.10522	0.252166539431	0.03999	T	0.322819	0.69379	T	-0.28378	0.10270	T	-0.17528	0.56960	T	0.012114446485306	0.00193	T	0.593441	0.21910	T	0.02074044	0.00644	0.028641589	0.01119	0.020595802	0.00623	0.02819071	0.01033	-3.188	0.12334	T	0.09513167477338763	0.06441	0.064	0.01645	B	.;.	.;.	-0.691902	0.01340	0.074	0.63355510148389349	0.07202	0.08530	0.14447	N	AEFBI	0.132921	0.25241	N	-1.10111141240403	0.06624	0.3054509	-1.12856201002048	0.07158	0.3471643	0.999987309373211	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.87	-4.87	0.02893	-1.552000	0.02280	-2.097000	0.04217	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.088:0.5145:0.0829:0.3146	7.534	0.26871	861	0.33516	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	5703.08	34	chr20	10408774	.	T	C	5703.08	.	AC=2;AF=0.048;AN=42;DP=1082;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.04;SOR=1.650	GT:AD:DP:GQ:PL	1/1:0,178:178:99:5731,534,0	20	1	0	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	.	212	501	433	376	0	1185	0.541838	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	3412.19	6	chr20	44429378	.	T	C	3412.19	.	AC=25;AF=0.658;AN=38;BaseQRankSum=0.508;DP=206;ExcessHet=0.3394;FS=7.051;InbreedingCoeff=0.0621;MLEAC=26;MLEAF=0.684;MQ=60.00;MQRankSum=0.00;QD=18.25;ReadPosRankSum=0.00;SOR=1.306	GT:AD:DP:GQ:PL	1/1:0,3:3:9:127,9,0	3	9	7	2
chr22	43928847	43928847	C	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon3:c.C444G:p.I148M,	.	.	418	622	397	85	0	567	0.313087	.	.	352627	NAFLD1|Hepatic_steatosis|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.03	D	0.994	D	0.944	D	0.016	N	0.000	P	3.265	M	-1.41	T	-1.028	T	0.000	T	0.209	1.841	12.12	-1.97	-0.125	-0.914	6.383	0.339	.	0.1953	0.262181	0.2632	0.1376	0.5723	0.3785	0.2262	0.2293	0.2687	0.2174	0.255825	39551	154602	rs738409	0.2325	0.2339	0.2333	0.2317	0.5358	0.2319	0.2316	0.5301	0.5278	0.1320	0.5358	0.2180	0.4180	0.2272	0.2696	0.2179	0.2294	0.2237	0.2281	0.2285	0.2230	0.2335	0.4235	0.2261	0.2253	0.4148	0.4113	0.1395	0.2720	0.4235	0.2111	0.3866	0.2201	0.2483	0.2262	0.2624	0.2372	0.054	0.38633	T	0.003	0.76473	D	0.994	0.66517	D	0.944	0.68059	D	0.016391	0.27990	N	0.316000	0.000289165	0.48481	P	3.045	0.86684	M	-1.41	0.80560	T	-2.57	0.55501	D	0.173	0.18512	-1.0285	0.20940	T	0.000	0.00011	T	9	0.0025928915	0.00039	T	.	.	.	0.339	0.66106	.	.	.	.	0.6869485544173306	0.68634	0.503164557005	0.48655	0.487125337124	0.37040	T	0.29702	0.66963	T	-0.485539	0.00687	T	-0.326399	0.41867	T	0.0306719473680774	0.02094	T	0.692831	0.33234	T	0.40859076	0.61323	0.35764056	0.61255	0.40859076	0.61324	0.35764056	0.61254	-9.124	0.68491	D	.	.	0.329	0.55166	B	.;.	.;.	1.374372	0.17849	13.40	0.99302197316743868	0.58686	0.52933	0.29250	D	AEFBCI	0.108930	0.21653	N	-0.255780834863084	0.30874	1.725634	-0.533311740709871	0.21251	1.14871	0.99975902258671	0.42595	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.7	-1.97	0.07091	-1.142000	0.03314	-1.110000	0.06300	-0.176000	0.10722	0.009000	0.18154	0.001000	0.17328	0.035000	0.13729	0.0:0.4064:0.2195:0.3741	6.383	0.20749	855	0.34697	Patatin-like phospholipase domain|Patatin-like phospholipase domain;.	SAMM50|SAMM50|SAMM50|PNPLA3|PNPLA3	Adipose_Subcutaneous|Breast_Mammary_Tissue|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	SAMM50|SAMM50|SAMM50|PNPLA3|SAMM50	Artery_Tibial|Colon_Sigmoid|Prostate|Skin_Sun_Exposed_Lower_leg|Testis	rs738409	Uncertain significance	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.3571	34134.34	43	chr22	43928847	.	C	G	34134.34	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.62;DP=2033;ExcessHet=3.1640;FS=0.521;InbreedingCoeff=-0.1407;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=20.50;ReadPosRankSum=0.110;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,55:159:99:0|1:43928847_C_G:1958,0,4170:43928847	8	2	11	0
chr22	43946236	43946236	A	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon9:c.A1300G:p.K434E,	.	.	425	173	454	470	0	1394	0.801149	.	.	348026	NAFLD1|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	0.000	N	1.000	P	0	N	1.36	T	-0.993	T	0.000	T	0.017	-1.344	0.030	-5.47	-1.617	-2.202	1.474	0.017	.	0.6804	0.78774	0.6778	0.8611	0.8057	0.8322	0.6554	0.5962	0.6388	0.7327	0.0001153	3	26028	rs2294918	0.6218	0.6218	0.6202	0.6233	0.8702	0.6207	0.6203	0.8619	0.8584	0.8702	0.7873	0.5490	0.8576	0.6661	0.5541	0.5901	0.6326	0.7308	0.6982	0.6981	0.6951	0.7015	0.8610	0.6947	0.6932	0.8535	0.8504	0.8610	0.6425	0.7237	0.5597	0.8298	0.6607	0.5816	0.5952	0.6660	0.7406	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.00162	N	19.533000	1	0.08975	P	0	0.06538	N	1.36	0.34452	T	0.19	0.04947	N	0.019	0.00279	-0.9931	0.31801	T	0.000	0.00011	T	9	8.5539574e-07	0.00003	T	.	.	.	0.017	0.02790	.	.	.	.	0.05719318555232301	0.05660	0.137088814673	0.15461	0.239135712385	0.02714	T	0.010383	0.09385	T	-0.82347	0.00005	T	-0.811814	0.01625	T	0.00113151014656881	0.00011	T	0.244976	0.03588	T	0.035668463	0.04242	0.042643968	0.05128	0.035668463	0.04242	0.042643968	0.05127	-2.186	0.03973	T	.	.	0.058	0.00890	B	.;.	.;.	-1.082945	0.00661	0.018	0.39555136886056874	0.02736	0.00156	0.00937	N	AEFDGBHCI	0.021339	0.00939	N	-1.81887812851011	0.00501	0.0215479	-1.90850098273576	0.00471	0.02085658	0.999999999962969	0.74766	0.696267	0.57585	0	0.858003	0.99906	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	2.74	-5.47	0.02396	-1.929000	0.01650	-5.037000	0.01876	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4592:0.1451:0.2489:0.1468	1.474	0.02276	836	0.38045	.;.	SAMM50|SAMM50|PNPLA3|PNPLA3|SAMM50	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Lung|Spleen|Whole_Blood	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.6905	60939.29	38	chr22	43946236	.	A	G	60939.29	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.056e+00;DP=2777;ExcessHet=0.0158;FS=0.717;InbreedingCoeff=0.4430;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=24.07;ReadPosRankSum=0.942;SOR=0.789	GT:AD:DP:GQ:PL	1/1:0,147:147:99:4442,441,0	4	12	5	0
chrX	38160034	38160034	G	A	exonic	SRPX	.	nonsynonymous SNV	SRPX:NM_001170750:exon6:c.C878T:p.T293M	.	.	.	.	.	.	.	.	.	.	.	2821479	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.94	P	0.404	B	0.000	D	0.970	D	1.67	L	-0.15	T	-0.861	T	0.179	T	0.142	2.099	12.97	3.91	0.559	3.388	5.892	0.110	0.035262844596	.	0.000264901	0.0002	0.0001	0	0	0	0.0003	0	0.0003	0.0001617	25	154602	rs750284952	0.0001	0.0001	0.0001	0.0001	0.0005	8.884e-05	8.325e-05	9.543e-05	8.868e-05	7.58e-05	0	0	0	9.897e-05	0.0005	0.0001	8.688e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0003	8.178e-05	6.62e-05	8.424e-05	5.74e-05	0.0002	0	9.342e-05	0	0.0003	0	0	0.0001	0	0	0.03	0.45393	D	0.108	0.37730	T	0.672	0.41203	P	0.122	0.32387	B	0.000410	0.44736	D	0.252992	0.970369	0.38793	D	2.075	0.57047	M	-0.15	0.65192	T	-1.92	0.47344	N	0.144	0.15187	-0.8613	0.51169	T	0.179	0.52551	T	10	0.11757299	0.22206	T	0.035263	0.56231	D	0.110	0.31079	.	.	0.945923092352	0.94536	0.38006763395698034	0.37921	0.0358619067927	0.03783	0.447488844395	0.31601	T	0.309798	0.68180	T	-0.403356	0.02201	T	-0.51961	0.20333	T	0.0525087080895901	0.05935	T	0.849315	0.63379	T	0.068085454	0.14802	0.1630054	0.37836	0.068085454	0.14802	0.1630054	0.37835	-7.414	0.59623	T	0.18955545218654712	0.24800	0.073	0.05188	B	.;.;.;.	.;.;.;.	3.129936	0.42292	21.5	0.99302167765994109	0.58686	0.80588	0.40186	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.964256295362953	0.28747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.68	3.91	0.44383	4.110000	0.57570	3.964000	0.40771	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.2162:0.1503:0.6335:0.0	5.892	0.18161	484	0.77165	.;.;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	820.98	36	chrX	38160034	.	G	A	820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.09;DP=728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=-1.845e+00;SOR=0.703	GT:AD:DP:GQ:PL	0/1:39,31:70:99:835,0,905	20	0	1	0
chrX	67546515	67546547	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1401del:p.G463_G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	1337344	Androgen_resistance_syndrome|Kennedy_disease|AR-related_disorder	MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186626054	0.0006	0.0005	0.0005	0.0007	0.0061	0.0005	0.0005	0.0030	0.0022	0.0025	0.0030	0.0014	0.0004	9.153e-05	0.0061	0.0003	0.0017	0.0010	0.0008	0.0006	0.0007	0.0008	0.0022	0.0006	0.0006	0.0014	0.0011	0.0013	0	0.0022	0.0009	0	0	0	0.0003	0.0009	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:21,0,23,0,0,0,0:44:99:0|1:67546514_TGGCGGCGGCGGC_T:907,970,1842,0,872,799,970,1842,872,1842,970,1842,872,1842,1842,970,1842,872,1842,1842,1842,970,1842,872,1842,1842,1842,1842:67546514	11	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	809.22	77	chrX	133704277	.	GA	G	809.22	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.080e-01;DP=1245;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2718;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.48;ReadPosRankSum=0.142;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,10:79:13:.:.:13,0,1564	12	0	9	0
chrX	151397323	151397323	T	G	exonic	VMA21	.	nonsynonymous SNV	VMA21:NM_001017980:exon1:c.T15G:p.D5E,	Myopathy, X-linked, with excessive autophagy, X-linked recessive	.	1	1512	6	3	0	12	0.00395257	.	.	379026	not_specified|VMA21-related_disorder|Inborn_genetic_diseases|not_provided|X-linked_myopathy_with_excessive_autophagy	MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010684,MedGen:C1839615,OMIM:310440,Orphanet:25980	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.002	B	.	.	1.000	N	0.345	N	.	.	-1.035	T	0.051	T	0.142	1.944	12.46	-0.915	-0.107	0.528	5.110	0.029	0.0521174705859	.	.	0.0009	0	0	0	.	0.0004	0	0.0013	9.06e-05	14	154602	rs765120199	0.0004	0.0004	0.0004	0.0005	0.0020	0.0004	0.0004	0.0017	0.0015	4.017e-05	0.0005	0	3.687e-05	0	0.0013	0.0004	0.0007	0.0020	0.0004	0.0003	0.0004	0.0002	0.0014	0.0003	0.0002	0.0005	0.0003	3.2e-05	0	0.0008	0	0.0006	0	0	0.0004	0.0007	0.0014	0.278	0.15613	T	0.475	0.12072	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	0.55	0.14455	N	.	.	.	-0.52	0.16187	N	0.058	0.02964	-1.0349	0.18888	T	0.051	0.21806	T	8	0.016320378	0.00344	T	0.052117	0.64939	D	0.029	0.06676	0.257	0.19845	0.0675242888579	0.06100	.	.	0.727047607057	0.62546	0.741258740425	0.73158	T	0.002723	0.02115	T	-0.556968	0.00265	T	-0.59745	0.13026	T	0.0155201040789276	0.00352	T	0.559344	0.19537	T	0.059385717	0.12062	0.07430366	0.16240	0.05172803	0.09542	0.07998654	0.18053	-2.842	0.08576	T	.	.	0.070	0.03552	B	.	.	1.860680	0.23633	16.09	0.94523969207673675	0.25016	0.69658	0.34275	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999964297	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17	-0.915	0.09960	0.262000	0.18229	0.238000	0.16272	-0.120000	0.14102	1.000000	0.71638	0.995000	0.32472	0.200000	0.21896	0.0:0.3473:0.1696:0.4831	5.110	0.14136	728	0.54609	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	1031.98	33	chrX	151397323	.	T	G	1031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-02;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-1.570e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1046,0,956	20	0	1	0
chrX	154546029	154546029	T	G	intronic	G6PD;IKBKG	.	.	.	.	.	0	1514	4	4	0	12	0.00394737	0	0.002	352802	Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|G6PD_deficiency	MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0005775,MedGen:C2939465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.00688742	0.0046	0.0002	0.0004	0	0	6.287e-05	0.0016	0.0390	0.0044889	694	154602	rs369904290	0.0020	0.0020	0.0013	0.0035	0.0375	0.0019	0.0019	0.0362	0.0356	0.0003	0	0	3.313e-05	0	0.0012	2.614e-05	0.0023	0.0375	0.0010	0.0012	0.0008	0.0016	0.0397	0.0009	0.0008	0.0335	0.0312	0.0003	0	0	0	0	0	0	0	0	0.0397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1990.98	39	chrX	154546029	.	T	G	1990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.622;DP=815;ExcessHet=0.0000;FS=1.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.43;ReadPosRankSum=-1.413e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/1:34,74:108:99:2005,0,773	20	0	1	0
chrX	154956961	154956961	T	C	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon11:c.A1748G:p.N583S,	Hemophilia A, X-linked recessive	YES	0	225	0	1	0	2	0.00442478	.	.	481379	Hereditary_factor_VIII_deficiency_disease	MONDO:MONDO:0010602,MedGen:C0019069,OMIM:134500,OMIM:306700,Orphanet:98878	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.996	D	0.000	D	1.000	D	1.27	L	-5.23	D	1.059	D	0.945	D	0.044	2.954	15.85	5.19	1.727	1.956	12.926	0.629	0.9265116347	.	.	2.279e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs782657516	1.734e-05	1.73e-05	5.446e-06	4.155e-05	0.0003	1.109e-05	8.94e-06	0.0002	0.0002	0	0	0	0	0	0	1.191e-06	2.174e-05	0.0003	2.672e-05	2.609e-05	1.285e-05	5.809e-05	0.0011	7.1e-06	2.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0011	0.089	0.32141	T	0.011	0.64786	D	1.0	0.90584	D	0.996	0.84481	D	0.000024	0.55875	D	0.155638	0.999722	0.48557	D	1.095	0.27400	L	-5.23	0.98892	D	-2.39	0.52612	N	0.055	0.02658	1.059	0.98321	D	0.945	0.98184	D	10	0.7079958	0.72862	D	0.926512	0.99464	D	0.629	0.85718	0.73	0.86373	0.984672753151	0.98450	0.954050767689727	0.95389	1.46387727901	0.86409	0.613436818123	0.54802	T	0.497398	0.81929	T	-0.24079	0.15248	T	-0.323976	0.42138	T	0.416316891983362	0.29554	T	0.911409	0.68582	D	0.7084721	0.78523	0.41316167	0.65497	0.7084721	0.78525	0.41316167	0.65497	-5.66	0.43335	T	0.745327585685457	0.82742	0.326	0.54968	B	.	.	3.892787	0.56649	23.8	0.99817250857811279	0.90061	0.82677	0.41872	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0678368658252265	0.15439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	5.19	0.71428	1.950000	0.39948	7.724000	0.67448	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	12.926	0.57656	203	0.92088	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1992.98	35	chrX	154956961	.	T	C	1992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=873;ExcessHet=0.0000;FS=3.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=0.037;SOR=0.470	GT:AD:DP:GQ:PL	0/1:94,79:173:99:2007,0,2434	20	0	1	0