Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES984	WT	HH	HZ	NC
chr1	12277610	12277610	C	T	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon19:c.C4022T:p.S1341L,VPS13D:NM_018156:exon19:c.C4022T:p.S1341L	.	436	1073	13	0	0	13	0.00602131	.	.	.	984048	VPS13D-related_disorder|not_provided|Autosomal_recessive_cerebellar_ataxia-saccadic_intrusion_syndrome	.|MedGen:C3661900|MONDO:MONDO:0011811,MedGen:C1846492,OMIM:607317,Orphanet:95434	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.169	0.00288129989674	0.0039	0.00119808	0.0027	0.0008	0.0006	0	0	0.0043	0.0033	0.0014	0.0027361	423	154602	rs12407578	0.0040	0.0040	0.0039	0.0041	0.0055	0.0039	0.0039	0.0047	0.0046	0.0006	0.0016	0.0009	0	9.403e-05	0.0055	0.0048	0.0037	0.0017	0.0027	0.0027	0.0031	0.0023	0.0048	0.0025	0.0024	0.0043	0.0042	0.0010	0	0.0021	0.0009	0	0.0002	0.0034	0.0048	0.0028	0.0015	.	.	.	0.014	0.62352	D	0.964	0.90584	D	0.306	0.84481	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.79	0.46772	L	.	.	.	.	.	.	0.827	0.82257	-0.7437	0.58262	T	0.207	0.56567	T	10	0.011992276	0.00260	T	0.002881	0.06074	T	.	.	.	.	0.117191471859	0.11215	0.6071695365548392	0.60648	.	.	0.706907629967	0.68145	T	0.584668	0.86453	D	-0.0181384	0.49119	T	0.20226	0.83253	D	0.0223151866866301	0.00944	T	0.944006	0.80662	D	0.43740696	0.63234	0.34600848	0.60275	0.475272	0.65613	0.49095947	0.70552	-6.199	0.47915	T	0.2813359230021587	0.37670	0.183	0.39731	B	.;.	.;.	4.567031	0.72027	25.8	0.99906592428517771	0.97726	0.98747	0.86334	D	AEFBI	0.623041	0.60713	D	0.534153202795129	0.69124	5.312616	0.59383377871949	0.74495	6.147002	0.999999999989951	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.91	5.91	0.95240	5.787000	0.68662	6.020000	0.52779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:1.0:0.0:0.0	20.299	0.98594	697	0.58201	.;.	.	.	.	.	.	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	0.005539	0.000000	0.002717	0.014620	0.000000	0.000000	0.012195	0.000000	0.07143	1709.44	39	chr1	12277610	.	C	T	1709.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.75;DP=327;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-1.243;SOR=0.665	GT:AD:DP:GQ:PL	0/1:77,65:142:99:1720,0,1838	6	0	1	0
chr1	18877457	18877457	C	T	exonic	ALDH4A1	.	nonsynonymous SNV	ALDH4A1:NM_001161504:exon10:c.G916A:p.G306R,ALDH4A1:NM_001319218:exon10:c.G1096A:p.G366R,ALDH4A1:NM_003748:exon10:c.G1096A:p.G366R,ALDH4A1:NM_170726:exon10:c.G1096A:p.G366R	Hyperprolinemia, type II, Autosomal recessive	0	1453	65	4	0	73	0.0245049	.	.	.	690430	not_provided|Hyperprolinemia_type_2	MedGen:C3661900|MONDO:MONDO:0009401,MedGen:C2931835,OMIM:239510,Orphanet:79101	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	.	0.001	0.00179712	0.0075	0.0005	0.0055	0	0.0012	0.0062	0.0065	0.0170	0.0027813	430	154602	rs41306567	0.0022	0.0022	0.0018	0.0026	0.0133	0.0021	0.0021	0.0127	0.0124	0.0004	0.0016	0.0032	2.573e-05	0.0001	0.0094	0.0015	0.0027	0.0133	0.0017	0.0017	0.0014	0.0020	0.0110	0.0015	0.0015	0.0086	0.0078	0.0004	0	0.0029	0.0014	0	0	0.0102	0.0020	0.0028	0.0110	0.133	0.26409	T	0.135	0.36901	T	0.001	0.07471	B	0.009	0.14300	B	0.663870	0.10403	N	0.849423	0.791045	0.34620	D	0.155	0.08919	N	1.59	0.28836	T	0.42	0.05503	N	0.32	0.38027	-1.0269	0.21462	T	0.044	0.18742	T	10	0.007830828	0.00178	T	.	.	.	0.038	0.09825	0.412	0.44887	0.262662153117	0.25859	0.688120731099813	0.68752	0.164871079818	0.18598	0.291973412037	0.09209	T	0.055247	0.29952	T	-0.505176	0.00534	T	-0.487396	0.23664	T	0.0081906171203606	0.00098	T	0.831217	0.49813	T	0.22828704	0.45545	0.15461615	0.36279	0.23813418	0.46687	0.12986113	0.31215	-3.624	0.35202	T	.	.	0.141	0.30971	B	.;.;.;.	.;.;.;.	2.596631	0.33695	19.42	0.98291500001102539	0.39954	0.80761	0.40317	D	AEFBI	0.355282	0.44707	N	-0.584069613298834	0.19427	1.016747	-0.409398648436248	0.24722	1.355339	0.17949397804824	0.17851	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.52	2.65	0.30588	1.723000	0.37675	2.747000	0.34506	-0.193000	0.09282	0.999000	0.42656	0.998000	0.33993	0.915000	0.45038	0.0:0.8248:0.0:0.1752	9.567	0.38570	952	0.10565	Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014691	0.010417	0.010899	0.020468	0.000000	0.008621	0.012270	0.026515	0.07143	2332.44	35	chr1	18877457	.	C	T	2332.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.868;DP=405;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=2.47;SOR=0.708	GT:AD:DP:GQ:PL	0/1:98,101:199:99:2343,0,2221	6	0	1	0
chr1	33021406	33021406	C	T	exonic	AK2	.	nonsynonymous SNV	AK2:NM_001319142:exon3:c.G260A:p.S87N,AK2:NM_001199199:exon4:c.G386A:p.S129N,AK2:NM_001319141:exon4:c.G386A:p.S129N,AK2:NM_001625:exon4:c.G386A:p.S129N,AK2:NM_013411:exon4:c.G386A:p.S129N,AK2:NM_001319139:exon5:c.G242A:p.S81N,AK2:NM_001319140:exon5:c.G242A:p.S81N	Reticular dysgenesis, Autosomal recessive	0	1493	28	1	0	30	0.00994695	.	.	.	498579	not_provided|Reticular_dysgenesis|not_specified|AK2-related_disorder	MedGen:C3661900|MONDO:MONDO:0009973,MedGen:C0272167,OMIM:267500,Orphanet:33355|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.128	0.0168867353057	0.0041	0.00219649	0.0042	0.0012	0.0006	0.0001	0.0006	0.0055	0.0011	0.0073	0.0043402	671	154602	rs61750965	0.0058	0.0058	0.0058	0.0058	0.0066	0.0057	0.0056	0.0065	0.0065	0.0010	0.0008	0.0062	2.519e-05	0.0004	0.0054	0.0066	0.0052	0.0056	0.0037	0.0037	0.0039	0.0036	0.0065	0.0035	0.0034	0.0060	0.0058	0.0014	0	0.0011	0.0081	0	0.0005	0	0.0065	0.0005	0.0035	0.464	0.09776	T	0.511	0.13832	T	0.0	0.33195	B	0.0	0.33146	B	0.063043	0.22053	N	0.591019	0.903657	0.81001	D	-0.69	0.01958	N	-0.99	0.76300	T	-0.2	0.13226	N	0.491	0.55886	-0.7014	0.60371	T	0.151	0.47962	T	10	0.013360918	0.00284	T	0.016887	0.38356	T	0.128	0.35103	.	.	0.648273525633	0.64535	0.4614190285344923	0.46059	0.175094801446	0.19712	0.410182654858	0.26482	T	0.162272	0.55157	T	-0.41274	0.01907	T	-0.360522	0.37994	T	0.0178057090999815	0.00509	T	0.940106	0.77361	D	0.11311202	0.26716	0.08396349	0.19281	0.12688412	0.29707	0.080425434	0.18192	-2.657	0.07379	T	.	.	0.151	0.39339	B	.;.;.;.;.	.;.;.;.;.	2.348688	0.30108	18.33	0.91303506057907224	0.20564	0.90869	0.52415	D	AEFGBI	0.216083	0.34136	N	-0.229406234226005	0.31931	1.795564	-0.0138875495912115	0.39088	2.312276	0.922964593518304	0.26726	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.35	4.43	0.52967	2.399000	0.44148	1.764000	0.28577	0.599000	0.40250	1.000000	0.71638	0.990000	0.31317	1.000000	0.97212	0.0:0.8531:0.0:0.1469	10.866	0.46063	542	0.72843	.;.;.;.;.	.	.	.	.	.	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	0.005045	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.022727	0.08333	568.27	19	chr1	33021406	.	C	T	568.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.098;DP=205;ExcessHet=0;FS=1.143;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.781;SOR=0.992	GT:AD:DP:GQ:PL	0/1:28,24:52:99:578,0,675	5	0	1	1
chr1	42750259	42750259	C	T	exonic	P3H1	.	nonsynonymous SNV	P3H1:NM_001146289:exon11:c.G1647A:p.M549I,P3H1:NM_001243246:exon11:c.G1647A:p.M549I,P3H1:NM_022356:exon11:c.G1647A:p.M549I	Osteogenesis imperfecta, type VIII, Autosomal recessive	0	1349	159	14	0	187	0.064818	.	.	.	365254	not_specified|Osteogenesis_imperfecta_type_8|Osteogenesis_Imperfecta,_Recessive	MedGen:CN169374|MONDO:MONDO:0012581,MedGen:C1970458,OMIM:610915|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.028	.	0.0623	0.057508	0.0719	0.0267	0.0355	0.0424	0.0858	0.0810	0.0648	0.0991	0.0700832	10835	154602	rs11581921	0.0779	0.0779	0.0772	0.0786	0.0905	0.0775	0.0774	0.0888	0.0881	0.0223	0.0398	0.0271	0.0383	0.0773	0.0454	0.0835	0.0687	0.0905	0.0602	0.0604	0.0601	0.0603	0.0944	0.0592	0.0587	0.0873	0.0844	0.0253	0.0647	0.0576	0.0259	0.0431	0.0785	0.0374	0.0797	0.0659	0.0944	0.404	0.15354	T	0.447	0.13066	T	0.008	0.15535	B	0.01	0.14941	B	0.000622	0.42799	N	0.244651	0.886722	0.27954	N	-0.805	0.01590	N	1.09	0.39223	T	0.64	0.02368	N	0.142	0.14196	-1.1055	0.03486	T	0.003	0.00961	T	10	0.0016106963	0.00019	T	.	.	.	0.028	0.06331	0.364	0.37036	.	.	0.5434565235910352	0.54271	0.209664287682	0.23441	0.454124242067	0.32508	T	0.049955	0.28457	T	-0.578798	0.00196	T	-0.532112	0.19077	T	0.00892420019926719	0.00111	T	0.791621	0.44736	T	0.07865807	0.17925	0.05993935	0.11332	0.06477003	0.13774	0.051074196	0.08146	-3.685	0.21553	T	0.0868220304280723	0.05036	0.294	0.63214	B	.;.;.	.;.;.	2.559118	0.33143	19.25	0.96467838080981627	0.29925	0.79879	0.39672	D	AEFBI	0.305921	0.41321	N	-0.340966266133552	0.27605	1.515937	-0.154244508031221	0.33246	1.899718	0.966672844025438	0.28921	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.13	4.22	0.49153	0.662000	0.24721	2.736000	0.34426	0.537000	0.25018	0.998000	0.41325	1.000000	0.68203	0.963000	0.52385	0.0:0.8093:0.0:0.1907	7.634	0.27424	507	0.75469	.;.;Prolyl 4-hydroxylase, alpha subunit	C1orf50|RP5-994D16.9|RP5-994D16.9|RP5-994D16.9|P3H1|PPIH	Heart_Left_Ventricle|Heart_Left_Ventricle|Muscle_Skeletal|Nerve_Tibial|Spleen|Testis	P3H1|P3H1|P3H1|P3H1|P3H1	Adipose_Visceral_Omentum|Esophagus_Muscularis|Lung|Nerve_Tibial|Whole_Blood	rs11581921	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	0.047883	0.020408	0.043597	0.038012	0.100000	0.043103	0.051829	0.090909	0.25	3666.31	72	chr1	42750259	.	C	T	3666.31	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.42;DP=322;ExcessHet=0;FS=0.603;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=19.93;ReadPosRankSum=1.23;SOR=0.607	GT:AD:DP:GQ:PL	0/1:53,59:112:99:1478,0,1329	4	1	1	1
chr1	55057360	55057360	A	G	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q	Hypercholesterolemia, familial, 3	1	0	1	1520	0	3041	1	.	.	.	249989	Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1|not_provided|not_specified|Cardiovascular_phenotype|Hypobetalipoproteinemia	MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9797	0.981829	0.9945	0.9420	0.9982	1	0.9997	0.9996	0.9956	0.9999	0.969172	149836	154602	rs509504	0.9983	0.9983	0.9981	0.9986	1.0000	0.9970	0.9964	0.9984	0.9977	0.9410	0.9968	1.0000	1.0000	1.0000	0.9984	0.9999	0.9967	0.9998	0.9835	0.9835	0.9830	0.9841	1.0000	0.9794	0.9776	0.9936	0.9910	0.9422	1.0000	0.9956	1.0000	1.0000	1.0000	0.9966	0.9999	0.9877	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.994965	0.974747	0.994565	0.997076	1.000000	1.000000	0.996951	1.000000	1.0	22671.0	91	chr1	55057360	.	A	G	22671.0	.	AC=14;AF=1;AN=14;BaseQRankSum=2.03;DP=759;ExcessHet=0;FS=0;MLEAC=14;MLEAF=1;MQ=60;MQRankSum=0;QD=30.6;ReadPosRankSum=-0.989;SOR=0.243	GT:AD:DP:GQ:PL	1/1:1,155:156:99:4588,457,0	0	7	0	0
chr1	89054647	89054652	AAAAAC	-	intronic	GBP1	.	.	.	.	630	387	266	239	0	744	0.490119	.	.	.	1310281	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.4335	0.384984	0.4653	0.2752	0.3198	0.3797	0.6032	0.5117	0.4919	0.4927	0.0001921	5	26028	rs66614512	0.5009	0.4988	0.4991	0.5027	0.5162	0.4999	0.4995	0.5150	0.5146	0.2892	0.3353	0.4420	0.3415	0.6034	0.4709	0.5162	0.4810	0.5115	0.4382	0.4403	0.4351	0.4415	0.5215	0.4354	0.4343	0.5169	0.5151	0.2908	0.4658	0.3465	0.4346	0.3728	0.6123	0.5069	0.5215	0.4378	0.5102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	4958.07	18	chr1	89054646	.	GAAAAAC	G	4958.07	.	AC=8;AF=0.571;AN=14;BaseQRankSum=0.021;DP=212;ExcessHet=1.4958;FS=1.154;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=24.3;ReadPosRankSum=0.977;SOR=0.816	GT:AD:DP:GQ:PL	0/1:28,26:54:99:1001,0,1087	1	2	4	0
chr1	92478757	92478757	-	AGAGAGAGAG	intronic	GFI1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	281300	Neutropenia,_severe_congenital,_2,_autosomal_dominant|not_provided|GFI1-related_disorder|not_specified|Severe_congenital_neutropenia	MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486|MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004398	68	154602	rs371078453	0.0383	0.0466	0.0385	0.0382	0.0384	0.0381	0.0379	0.0381	0.0379	0.0280	0.0198	0.0545	0.0236	0.0686	0.0357	0.0384	0.0375	0.0355	0.0660	0.0711	0.0640	0.0681	0.0743	0.0648	0.0644	0.0725	0.0718	0.0426	0.1457	0.0415	0.1163	0.0581	0.1245	0.0551	0.0743	0.0632	0.0555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2867.81	10	chr1	92478757	.	C	CAGAGAGAGAG	2867.81	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.551;DP=209;ExcessHet=0;FS=2.983;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=34.14;ReadPosRankSum=-0.674;SOR=2.049	GT:AD:DP:GQ:PL	0/1:0,4:14:99:528,311,310	4	0	2	1
chr1	94077833	94077833	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon11:c.G1411A:p.E471K	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	YES	104942	not_provided|not_specified|Stargardt_disease|Age_related_macular_degeneration_2|Retinal_dystrophy|Inborn_genetic_diseases|ABCA4-related_disorder|Severe_early-childhood-onset_retinal_dystrophy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|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|MeSH:D030342,MedGen:C0950123|MedGen:CN239167|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.491	0.217220130875	0.0008	.	0.0009	0	0	0	0.0006	0.0015	0	0.0006	0.000815	126	154602	rs1800548	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0007	0.0007	0.0006	8.961e-05	6.708e-05	0.0060	0	0.0007	0.0003	0.0006	0.0010	0.0009	0.0009	0.0009	0.0010	0.0008	0.0014	0.0008	0.0007	0.0011	0.0011	2.412e-05	0	0.0003	0.0084	0	0.0003	0	0.0014	0.0005	0.0006	0.917	0.02327	T	0.761	0.04619	T	0.004	0.12183	B	0.007	0.12992	B	0.001067	0.40389	N	0.252125	0.999798	0.49177	D	2.08	0.57402	M	-1.96	0.85091	D	-0.58	0.17417	N	0.796	0.79214	-0.4371	0.70827	T	0.340	0.70592	T	10	0.008672595	0.00196	T	0.21722	0.87598	D	0.491	0.77783	.	.	0.856801206669	0.85542	0.8102918542155326	0.80984	0.104981071389	0.11866	0.287962198257	0.08626	T	0.316653	0.68817	T	-0.127296	0.31933	T	0.0403804	0.72953	D	0.0361554449678289	0.03007	T	0.835916	0.50694	T	0.23064275	0.45823	0.15203673	0.35788	0.2182309	0.44326	0.14346135	0.34092	-5.969	0.46019	T	.	.	0.082	0.08560	B	.;.	.;.	2.746163	0.35986	20.1	0.88396806040854004	0.17944	0.94064	0.60003	D	AEFBI	0.419695	0.48682	N	-0.158588918330669	0.34870	1.995898	0.00268211559618181	0.39840	2.36836	0.999999277561146	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.94	4.94	0.64645	0.741000	0.25870	3.842000	0.40046	0.599000	0.40250	0.026000	0.20160	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.716	0.91639	684	0.59539	.;.	.	.	.	.	.	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	3353.44	34	chr1	94077833	.	C	T	3353.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.852;DP=428;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.385;SOR=0.714	GT:AD:DP:GQ:PL	0/1:93,135:228:99:3364,0,2176	6	0	1	0
chr1	158668076	158668076	A	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277732	Pyropoikilocytosis,_hereditary|not_provided|Spherocytosis,_Recessive|Elliptocytosis	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.295927	0.2594	0.3676	0.2026	0.2423	0.2213	0.2473	0.2422	0.3088	0.0001153	3	26028	rs5778087	0.2240	0.2318	0.2228	0.2252	0.3653	0.2233	0.2230	0.3595	0.3571	0.3653	0.1704	0.2138	0.2344	0.1747	0.2460	0.2196	0.2324	0.2731	0.2818	0.2831	0.2829	0.2807	0.4731	0.2795	0.2785	0.4673	0.4649	0.4731	0.0657	0.1879	0.2095	0.2214	0.1760	0.2259	0.2103	0.2655	0.2866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2827.55	24	chr1	158668075	.	GA	G	2827.55	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.331;DP=284;ExcessHet=0.4813;FS=2.929;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=0.299;SOR=0.995	GT:AD:DP:GQ:PL	0/1:10,28:49:76:627,0,161	2	0	5	0
chr1	169529737	169529737	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.A5290G:p.M1764V	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	683	630	208	0	1046	0.433665	.	.	.	249501	Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|not_specified|not_provided	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	.	0.2894	0.308706	0.3351	0.1905	0.5327	0.2606	0.2965	0.3211	0.3469	0.3980	0.331005	51174	154602	rs6030	0.3320	0.3320	0.3303	0.3337	0.5036	0.3312	0.3309	0.4981	0.4958	0.1908	0.5036	0.2433	0.2974	0.2961	0.3432	0.3294	0.3217	0.4015	0.2994	0.2996	0.2954	0.3036	0.4414	0.2971	0.2962	0.4325	0.4289	0.1962	0.1919	0.4414	0.2414	0.2702	0.2903	0.3129	0.3306	0.3275	0.4006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.799742	0.09333	N	0.908379	1	0.08975	P	-1.195	0.00846	N	-5.02	0.98562	D	0.77	0.01949	N	0.006	0.00044	-0.4336	0.70946	T	0.433	0.77400	T	9	0.00013938546	0.00010	T	.	.	.	0.230	0.53062	.	.	.	.	0.5774194888175482	0.57670	0.0874476088007	0.09862	0.202470511198	0.00532	T	0.012008	0.10625	T	-0.558879	0.00258	T	-0.431747	0.29737	T	0.00389668243981471	0.00041	T	0.0319468	0.00204	T	0.10963965	0.25921	0.15528889	0.36408	0.11500659	0.27143	0.10465255	0.25139	-1.936	0.02949	T	0.0630923633968402	0.01915	0.051	0.00195	B	.;.	.;.	-1.215408	0.00515	0.012	0.69920481567361925	0.09127	0.03239	0.08258	N	AEFGBCIJ	0.145810	0.26911	N	-1.46881193792389	0.02073	0.09117123	-1.39284912778787	0.03328	0.1549985	0.999997398089242	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.172119	0.04147	3	0.564101	0.26826	0	.	.	5.32	-2.86	0.05376	-2.274000	0.01245	-8.462000	0.00965	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0923:0.1961:0.2724:0.4392	3.252	0.06416	772	0.48957	.;.	ATP1B1	Testis	.	.	rs6030	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.324270	0.373737	0.269022	0.406433	0.250000	0.370690	0.277439	0.352273	0.7143	9095.72	82	chr1	169529737	.	T	C	9095.72	.	AC=10;AF=0.714;AN=14;BaseQRankSum=0.301;DP=577;ExcessHet=2.5225;FS=0;MLEAC=10;MLEAF=0.714;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=0.548;SOR=0.669	GT:AD:DP:GQ:PL	0/1:74,42:116:99:923,0,1870	0	3	4	0
chr1	169542517	169542517	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.A2573G:p.K858R	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	794	580	148	0	876	0.355519	.	.	.	249509	Thrombophilia_due_to_activated_protein_C_resistance|not_provided|Congenital_factor_V_deficiency|not_specified	MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:C3661900|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.009	.	0.2436	0.266773	0.2768	0.1782	0.4435	0.2189	0.2153	0.2598	0.2797	0.3462	0.26695	41271	154602	rs4524	0.2731	0.2732	0.2716	0.2747	0.4087	0.2724	0.2721	0.4038	0.4017	0.1804	0.4087	0.1760	0.2265	0.2171	0.2765	0.2718	0.2651	0.3467	0.2462	0.2463	0.2443	0.2481	0.3449	0.2441	0.2432	0.3341	0.3309	0.1831	0.1908	0.3418	0.1685	0.2342	0.2115	0.2381	0.2667	0.2614	0.3449	0.855	0.02705	T	0.847	0.03538	T	0.0	0.02946	B	0.0	0.01387	B	0.635169	0.10649	N	0.830320	1	0.08975	P	-1.355	0.00654	N	2.17	0.19020	T	0.21	0.04776	N	0.026	0.00527	-0.9096	0.46904	T	0.005	0.01615	T	9	0.00049877167	0.00011	T	.	.	.	0.009	0.00846	.	.	.	.	0.1337133431932104	0.13295	0.07127904727	0.07981	0.188595145941	0.00201	T	0.013326	0.11547	T	-0.869542	0.00001	T	-0.877993	0.00671	T	0.000714397847103574	0.00006	T	0.386661	0.09517	T	0.022049049	0.00842	0.030590214	0.01535	0.01725972	0.00258	0.02791734	0.00982	-3.171	0.12129	T	0.05318867320884815	0.01062	0.073	0.04477	B	.;.	.;.	-0.558016	0.01690	0.122	0.12338566367754079	0.00211	0.00494	0.02336	N	AEFBI	0.057701	0.10769	N	-1.69916646532579	0.00845	0.03654265	-1.64287359967973	0.01413	0.06388659	1.28884559717462E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.34	-1.7	0.07721	-0.613000	0.05705	-0.884000	0.07053	-1.357000	0.01185	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.3402:0.1552:0.5046	5.162	0.14392	773	0.48803	.;.	.	.	.	.	rs4524	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.262336	0.303030	0.211957	0.318713	0.150000	0.275862	0.225610	0.295455	0.5	11702.1	131	chr1	169542517	.	T	C	11702.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.74;DP=1021;ExcessHet=3.6764;FS=1.097;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.369;SOR=0.609	GT:AD:DP:GQ:PL	0/1:129,117:246:99:2816,0,3302	1	1	5	0
chr1	173828310	173828310	T	-	intronic	DARS2	.	.	.	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, Autosomal recessive	95	1370	46	1	10	58	0.0172166	.	.	.	549865	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2284	0.000998403	0.0381	0.0103	0.0297	0.0469	0.0267	0.0443	0.0472	0.0364	0.0004226	11	26028	rs368180250	0.0178	0.0381	0.0169	0.0187	0.0272	0.0176	0.0175	0.0258	0.0252	0.0047	0.0187	0.0476	0.0272	0.0203	0.0217	0.0170	0.0206	0.0158	0.0020	0.0026	0.0018	0.0023	0.0043	0.0018	0.0018	0.0034	0.0031	0.0006	0	0.0043	0.0064	0.0006	0.0016	0	0.0024	0.0035	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1140.48	17	chr1	173828309	.	CT	C	1140.48	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.225;DP=223;ExcessHet=1.1394;FS=23.064;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-1.276;SOR=0.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,27:52:99:0|1:173828309_CT_C:422,0,586:173828309	5	0	2	0
chr1	179889309	179889309	G	A	splicing	TOR1AIP1	NM_001267578:exon3:c.554-1G>A	.	.	.	467	200	364	491	0	1346	0.770905	1.0000	0.918	YES	249563	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Y|not_specified	MedGen:C3661900|MONDO:MONDO:0014900,MedGen:C4511482,OMIM:617072,Orphanet:424261|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5831	0.635383	0.6466	0.4951	0.7811	0.7603	0.5516	0.6317	0.6093	0.6884	0.63765	98582	154602	rs2245425	0.6269	0.6280	0.6247	0.6291	0.7625	0.6258	0.6254	0.7556	0.7528	0.4921	0.7625	0.6584	0.7531	0.5600	0.6729	0.6182	0.6333	0.6858	0.5973	0.5972	0.5976	0.5969	0.7571	0.5940	0.5927	0.7374	0.7293	0.4950	0.6308	0.6819	0.6633	0.7571	0.5585	0.6905	0.6227	0.6276	0.6884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.04199e-16	0.58761	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.762522	0.00014	T	-0.724267	0.04593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.415017	0.18307	13.67	0.96167067373433235	0.28917	0.80939	0.40452	D	AEFGBI	.	.	.	0.771385091335884	0.84290	8.246399	0.516679057775212	0.69111	5.314058	0.999999995517267	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.060301	0.00762	0	0.109871	0.03346	0	0.960703	0.65649	5.26	5.26	0.73479	4.241000	0.58503	5.751000	0.49627	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	14.730	0.68990	416	0.81733	.;.	QSOX1|TDRD5|TOR1AIP1|CEP350|TOR1AIP1|RP11-545A16.3|TDRD5|TOR1AIP1|TDRD5|RP11-533E19.2|TDRD5|QSOX1	Artery_Tibial|Brain_Cerebellum|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid|Whole_Blood	TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|TOR1AIP1|RP11-533E19.2|TOR1AIP1|TOR1AIP1|TOR1AIP1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Lung|Minor_Salivary_Gland|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Uterus|Vagina|Whole_Blood	rs2245425	Benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.8333	7426.47	40	chr1	179889309	.	G	A	7426.47	.	AC=10;AF=0.833;AN=12;BaseQRankSum=0.594;DP=331;ExcessHet=0.4139;FS=1.128;MLEAC=11;MLEAF=0.917;MQ=60;MQRankSum=0;QD=22.85;ReadPosRankSum=1.24;SOR=0.798	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1339,150,0	0	4	2	1
chr1	196690107	196690107	C	T	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	207	250	453	612	0	1677	0.770326	.	.	YES	278205	Atypical_hemolytic-uremic_syndrome|Age_related_macular_degeneration_4|not_provided|Basal_laminar_drusen|Factor_H_deficiency|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1	MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.6243	0.733427	0.6721	0.6307	0.8458	0.9506	0.5582	0.6169	0.6589	0.7008	0.0001153	3	26028	rs1061170	0.6361	0.6361	0.6353	0.6369	0.9401	0.6350	0.6346	0.9321	0.9288	0.6297	0.8237	0.6536	0.9401	0.5593	0.6309	0.6163	0.6436	0.6942	0.6445	0.6446	0.6418	0.6473	0.9486	0.6411	0.6397	0.9264	0.9173	0.6288	0.5187	0.7377	0.6614	0.9486	0.5626	0.6541	0.6177	0.6641	0.7199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	.	.	.	-0.03	0.63077	T	0.01	0.06868	N	0.087	0.06454	-1.0069	0.27881	T	0.000	0.00011	T	7	4.2569295e-06	0.00003	T	.	.	.	0.086	0.25016	.	.	.	.	0.5769233046748007	0.57621	0.162329486446	0.18315	0.253577560186	0.04154	T	0.003274	0.02677	T	-0.761617	0.00015	T	-0.722967	0.04654	T	0.0225529419406931	0.00971	T	0.133787	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.;.;.	.;.;.	-3.389009	0.00004	0.001	0.22051245335339048	0.00869	0.00085	0.00571	N	AEFBI	0.283399	0.39651	N	-2.76930125675915	0.00003	0.0001621695	-2.87910541750741	0.00003	0.0001313686	0.998921497306925	0.37985	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.54	-9.09	0.00613	-8.331000	0.00028	-20.000000	0.00162	-4.685000	0.00022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4236:0.2638:0.0834:0.2293	2.071	0.03395	541	0.72942	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	CFHR1|CFHR3|CFHR1|CFHR3|CFHR1|CFHR1|CFHR1|CFHR1|CFHR3|CFHR1|CFHR1|CFHR3|CFHR3|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFH|CFHR3|CFHR1|CFH|CFHR1|CFHR3|CFHR3|CFHR3|CFHR1|CFHR3|CFHR1|CFHR3|CFHR3	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Brain_Anterior_cingulate_cortex_BA24|Brain_Hippocampus|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Lung|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Thyroid	CFH|CFH|CFH|CFH|CFH|CFHR1|CFH|CFH|CFHR1|CFH|CFH|CFH|CFH|CFHR1	Adipose_Subcutaneous|Artery_Aorta|Artery_Coronary|Artery_Tibial|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Heart_Atrial_Appendage|Liver|Liver|Ovary|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	rs1061170	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.631923	0.681818	0.582880	0.669591	0.500000	0.620690	0.606707	0.696970	0.6429	12773.1	34	chr1	196690107	.	C	T	12773.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=0;DP=576;ExcessHet=0.4813;FS=0.727;MLEAC=9;MLEAF=0.643;MQ=59.98;MQRankSum=0;QD=24.15;ReadPosRankSum=0.71;SOR=0.558	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1504,0,1689	1	3	3	0
chr1	196743447	196743447	T	C	intronic	CFH	.	.	.	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	2	810	709	1	0	711	0.305019	0	0.028	.	865078	Age_related_macular_degeneration_4|Basal_laminar_drusen|CFH-Related_Dense_Deposit_Disease_/_Membranoproliferative_Glomerulonephritis_Type_II|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|not_specified|Atypical_hemolytic-uremic_syndrome|not_provided	MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MedGen:CN071292|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN169374|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2585	0.2335	0.3236	0.3530	0.2551	0.2478	0.2636	0.2241	0.0001035	16	154602	rs513699	0.0899	0.2501	0.0919	0.0878	0.1935	0.0893	0.0891	0.1884	0.1864	0.0730	0.1344	0.0955	0.1935	0.1086	0.0549	0.0875	0.0860	0.0598	0.0293	0.1436	0.0285	0.0300	0.0485	0.0284	0.0280	0.0448	0.0434	0.0296	0.0038	0.0485	0.0263	0.0478	0.0280	0.0084	0.0251	0.0321	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	6043.21	34	chr1	196743447	.	T	C	6043.21	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.976;DP=765;ExcessHet=2.5225;FS=8.96;MLEAC=4;MLEAF=0.286;MQ=56.8;MQRankSum=-13.55;QD=9.41;ReadPosRankSum=-3.057;SOR=1.459	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,50:231:99:0|1:196743447_T_C:1545,0,7414:196743447	3	0	4	0
chr1	197421361	197421361	C	T	exonic	CRB1	.	synonymous SNV	CRB1:NM_001193640:exon4:c.C1197T:p.A399A,CRB1:NM_001257966:exon6:c.C1533T:p.A511A,CRB1:NM_201253:exon6:c.C1533T:p.A511A,CRB1:NM_001257965:exon8:c.C1326T:p.A442A	Leber congenital amaurosis 8;Pigmented paravenous chorioretinal atrophy, Autosomal dominant;Retinitis pigmentosa-12, autosomal recessive, Autosomal recessive	0	1491	29	2	0	33	0.0109453	.	.	.	177649	not_provided|Pigmented_paravenous_retinochoroidal_atrophy|not_specified|Retinitis_pigmentosa|Retinitis_pigmentosa_12|Leber_congenital_amaurosis_8|Leber_congenital_amaurosis	MedGen:C3661900|MONDO:MONDO:0008246,MedGen:C1868310,OMIM:172870,Orphanet:251295|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0010818,MedGen:C1838647,OMIM:600105,Orphanet:791|MONDO:MONDO:0013453,MedGen:C3151202,OMIM:613835,Orphanet:65|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.00379393	0.0036	0.0004	0.0009	0.0001	0.0002	0.0010	0.0011	0.0213	0.0031242	483	154602	rs142224492	0.0018	0.0018	0.0011	0.0024	0.0212	0.0017	0.0017	0.0204	0.0201	5.974e-05	0.0008	0.0034	2.519e-05	0.0001	0.0061	0.0004	0.0020	0.0212	0.0012	0.0012	0.0009	0.0015	0.0201	0.0010	0.0010	0.0169	0.0157	0.0002	0	0.0014	0.0026	0	0	0.0068	0.0005	0.0033	0.0201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.004532	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.022727	0.07143	2458.44	43	chr1	197421361	.	C	T	2458.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.61;DP=413;ExcessHet=0;FS=3.256;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=1.41;SOR=0.891	GT:AD:DP:GQ:PL	0/1:101,91:192:99:2469,0,2586	6	0	1	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q	.	440	2	22	1058	0	2138	0.998133	.	.	YES	1704217	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	16397.3	67	chr1	226735804	.	G	T	16397.3	.	AC=12;AF=1;AN=12;DP=535;ExcessHet=0;FS=0;MLEAC=13;MLEAF=1;MQ=60;QD=31.35;SOR=0.818	GT:AD:DP:GQ:PL	1/1:0,139:139:99:4174,417,0	0	6	0	1
chr1	226736237	226736237	A	C	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.T1222G:p.S408A	.	424	234	529	335	0	1199	0.719256	.	.	YES	1704219	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.5142	0.610423	0.5305	0.5845	0.7358	0.6685	0.4347	0.4720	0.5254	0.5623	0.50903	78697	154602	rs6667260	0.4825	0.4819	0.4809	0.4841	0.7102	0.4815	0.4811	0.7027	0.6996	0.5746	0.7102	0.5629	0.6813	0.4308	0.6177	0.4599	0.5103	0.5424	0.5227	0.5226	0.5220	0.5234	0.6711	0.5197	0.5184	0.6525	0.6449	0.5810	0.4967	0.6248	0.5700	0.6711	0.4299	0.6190	0.4617	0.5449	0.5568	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.982952	0.08082	N	0.990786	1	0.08975	P	-1.445	0.00556	N	2.07	0.20523	T	0.05	0.06369	N	0.012	0.00279	-0.9439	0.41992	T	0.000	0.00011	T	9	3.5098994e-06	0.00003	T	.	.	.	0.047	0.12962	.	.	.	.	0.05903511649592833	0.05844	0.161341295611	0.18212	0.352891504765	0.18347	T	0.023569	0.17967	T	-0.842882	0.00003	T	-0.839698	0.01103	T	0.0107150276910547	0.00151	T	0.0740926	0.00542	T	0.03752211	0.04827	0.026574247	0.00754	0.03752211	0.04827	0.026574247	0.00754	-4.077	0.24950	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-0.032082	0.04066	0.946	0.19618645798258003	0.00670	0.00108	0.00689	N	AEFBCI	0.019005	0.00622	N	-1.50554167816208	0.01813	0.07947133	-1.45024527399043	0.02768	0.1279108	0.999628074989162	0.41093	0.627647	0.40530	0	0.672317	0.65289	0	0.64067	0.45733	0	0.636168	0.56350	0	.	.	4.1	1.01	0.19044	-0.836000	0.04489	-0.357000	0.09702	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.324:0.3961:0.0:0.28	3.041	0.05767	845	0.36510	.;.;.	PSEN2|COQ8A|PSEN2|PSEN2|ITPKB|COQ8A	Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Skin_Not_Sun_Exposed_Suprapubic|Spleen|Whole_Blood|Whole_Blood	COQ8A|PSEN2	Adipose_Subcutaneous|Lung	rs6667260	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.625378	0.616162	0.653533	0.640351	0.700000	0.672414	0.628049	0.496212	0.2857	3195.86	47	chr1	226736237	.	A	C	3195.86	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.957;DP=347;ExcessHet=2.5225;FS=1.01;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.984;SOR=0.8	GT:AD:DP:GQ:PL	0/1:45,40:85:99:994,0,1160	3	0	4	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	not_specified|Myeloproliferative_neoplasm,_unclassifiable	MedGen:CN169374|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	1916.09	15	chr1	226737174	.	ACTGCCGCTG	A	1916.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.656;DP=230;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=21.06;ReadPosRankSum=0.431;SOR=0.801	GT:AD:DP:GQ:PL	0/1:21,30:51:99:1197,0,784	3	0	4	0
chr1	235380162	235380163	TG	-	intronic	TBCE	.	.	.	Encephalopathy, progressive, with amyotrophy and optic atrophy, Autosomal recessive;Hypoparathyroidism-retardation-dysmorphism syndrome, Autosomal recessive;Kenny-Caffey syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	281274	not_provided|Hypoparathyroidism-retardation-dysmorphism_syndrome	MedGen:C3661900|MONDO:MONDO:0009426,MedGen:C1855840,OMIM:241410,Orphanet:2323	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020747	54	26028	rs1300770843	0.0386	0.0629	0.0363	0.0409	0.0583	0.0383	0.0382	0.0569	0.0563	0.0108	0.0373	0.0430	0.0445	0.0451	0.0423	0.0366	0.0427	0.0583	0.1000	0.1097	0.1014	0.0984	0.1347	0.0986	0.0980	0.1310	0.1300	0.0362	0.0719	0.1136	0.1412	0.0785	0.1000	0.0949	0.1334	0.0830	0.1347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3058.85	11	chr1	235380161	.	TTG	T	3058.85	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.359;DP=280;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=32.2;ReadPosRankSum=0.145;SOR=1.007	GT:AD:DP:GQ:PL	1/0:0,8:23:99:770,576,548	6	0	1	0
chr1	235775088	235775088	-	A	splicing	LYST	NM_001301365:exon18:c.5461-2->T;NM_000081:exon18:c.5461-2->T	.	.	Chediak-Higashi syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	206777	not_specified|Chédiak-Higashi_syndrome|Autoinflammatory_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0431	0.0253	0.0838	0.0124	0.0210	0.0368	0.0337	0.0771	0.0009989	26	26028	rs557545474	0.0438	0.1069	0.0448	0.0428	0.0645	0.0434	0.0433	0.0621	0.0611	0.0266	0.0645	0.0302	0.0139	0.0344	0.0281	0.0454	0.0412	0.0437	0.0111	0.0114	0.0108	0.0115	0.0197	0.0107	0.0105	0.0165	0.0158	0.0028	0.0055	0.0182	0.0068	0.0010	0.0168	0.0071	0.0144	0.0090	0.0197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	174.2	20	chr1	235775088	.	T	TA	174.2	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.7;DP=163;ExcessHet=0;FS=4.971;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.22;ReadPosRankSum=-0.912;SOR=1.508	GT:AD:DP:GQ:PL	0/1:18,10:28:99:184,0,417	5	0	1	1
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	not_provided|Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG	MedGen:C3661900|MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1128.82	37	chr1	236897645	.	CT	C	1128.82	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.348;DP=396;ExcessHet=8.2628;FS=5.329;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=4.99;ReadPosRankSum=-0.341;SOR=0.449	GT:AD:DP:GQ:PL	0/1:31,8:41:99:102,0,628	1	0	6	0
chr1	241500602	241500602	-	GAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281822	Hereditary_cancer-predisposing_syndrome|Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197364	5137	26028	rs144131869	0.2390	0.2461	0.2382	0.2398	0.2745	0.2383	0.2380	0.2714	0.2702	0.1455	0.2328	0.2278	0.1589	0.2024	0.2171	0.2445	0.2281	0.2745	0.2551	0.2521	0.2543	0.2559	0.3681	0.2528	0.2519	0.3526	0.3463	0.1524	0.2864	0.3169	0.2763	0.1697	0.2757	0.2852	0.2931	0.2723	0.3681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	2796.86	17	chr1	241500602	.	T	TGAGA	2796.86	.	AC=5;AF=0.625;AN=8;BaseQRankSum=-0.614;DP=195;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.75;MQ=60;MQRankSum=0;QD=22.81;ReadPosRankSum=1.59;SOR=1.375	GT:AD:DP:GQ:PL	1/0:0,10:23:99:893,279,215	0	1	3	3
chr1	241500602	241500602	-	GAGAGA	intronic	FH	.	.	.	Fumarase deficiency, Autosomal recessive;Leiomyomatosis and renal cell cancer, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	281943	Fumarase_deficiency|Hereditary_leiomyomatosis_and_renal_cell_cancer|not_provided|not_specified	MONDO:MONDO:0011730,MedGen:C0342770,OMIM:606812,Orphanet:24|Human_Phenotype_Ontology:HP:0007437,MONDO:MONDO:0007888,MedGen:C1708350,OMIM:150800,Orphanet:523|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0104887	273	26028	rs144131869	0.1525	0.1590	0.1541	0.1509	0.1598	0.1519	0.1517	0.1592	0.1589	0.1416	0.1037	0.1260	0.1186	0.1150	0.1201	0.1598	0.1481	0.1335	0.2022	0.2027	0.2033	0.2011	0.2258	0.2002	0.1994	0.2227	0.2215	0.1753	0.1505	0.1884	0.1918	0.1716	0.1744	0.1889	0.2258	0.1997	0.2131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	2796.86	17	chr1	241500602	.	T	TGAGAGA	2796.86	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.614;DP=195;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.81;ReadPosRankSum=1.59;SOR=1.375	GT:AD:DP:GQ:PL	0/1:0,11:23:99:893,280,245	1	0	3	3
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I	Cystinuria, Autosomal recessive, Autosomal dominant	1	171	630	720	0	2070	0.858209	.	.	YES	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.646632	0.560606	0.637228	0.608392	0.700000	0.698276	0.698171	0.674242	0.6429	11556.1	88	chr2	44320435	.	G	A	11556.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-1.757;DP=573;ExcessHet=0.4813;FS=0;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=22.44;ReadPosRankSum=0.134;SOR=0.726	GT:AD:DP:GQ:PL	1/1:1,126:127:99:4024,339,0	1	3	3	0
chr2	60921756	60921756	C	A	intronic	REL	.	.	.	.	435	1060	25	2	0	29	0.0134946	0.0010	0.064	.	859182	Immunodeficiency_92|not_provided	MONDO:MONDO:0030498,MedGen:C5562039,OMIM:619652|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0037	0.00279553	0.0045	0.0015	0.0027	0	0.0030	0.0066	0.0124	0.0017	0.0042755	661	154602	rs142878172	0.0039	0.0040	0.0038	0.0041	0.0344	0.0039	0.0038	0.0304	0.0289	0.0022	0.0032	0.0258	0	0.0023	0.0344	0.0036	0.0056	0.0020	0.0038	0.0038	0.0036	0.0040	0.0047	0.0035	0.0034	0.0042	0.0041	0.0012	0	0.0042	0.0248	0	0.0034	0.0306	0.0047	0.0057	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	683.83	35	chr2	60921756	.	C	A	683.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.554;DP=218;ExcessHet=0;FS=3.991;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.057;SOR=1.321	GT:AD:DP:GQ:PL	0/1:29,27:56:99:694,0,692	6	0	1	0
chr2	69326244	69326244	A	-	intronic	GFPT1	.	.	.	Myasthenia, congenital, 12, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	290634	Congenital_myasthenic_syndrome_12|not_provided|not_specified|Congenital_Myasthenic_Syndrome,_Recessive	MONDO:MONDO:0012518,MedGen:C3552335,OMIM:610542,Orphanet:353327,Orphanet:590|MedGen:C3661900|MedGen:CN169374|MedGen:CN239337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.5003	0.5725	0.4843	0.3357	0.5331	0.5252	0.4928	0.4503	0.0001537	4	26028	rs201330278	0.4721	0.4795	0.4728	0.4714	0.5446	0.4710	0.4706	0.5371	0.5340	0.5446	0.4487	0.5008	0.2970	0.4755	0.5037	0.4796	0.4730	0.4329	0.6332	0.6282	0.6394	0.6266	0.7813	0.6298	0.6283	0.7741	0.7711	0.7813	0.6810	0.5747	0.6455	0.3023	0.5629	0.6418	0.5950	0.6144	0.5344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1190.02	20	chr2	69326243	.	GA	G	1190.02	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.56;DP=207;ExcessHet=4.7409;FS=0.59;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.211;SOR=0.62	GT:AD:DP:GQ:PL	0/1:10,14:26:99:314,0,187	2	0	5	0
chr2	70959974	70959974	G	A	exonic	ATP6V1B1	.	nonsynonymous SNV	ATP6V1B1:NM_001692:exon6:c.G481A:p.E161K	Renal tubular acidosis with deafness, Autosomal recessive	0	1256	247	19	0	285	0.101895	.	.	YES	53396	not_specified|not_provided|Renal_tubular_acidosis_with_progressive_nerve_deafness	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009968,MedGen:C0403554,OMIM:267300,Orphanet:93611	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.245	.	0.0232	0.0289537	0.0306	0.0250	0.0125	0.0001	0.0490	0.0272	0.0454	0.0685	0.0293463	4537	154602	rs114234874	0.0249	0.0249	0.0230	0.0269	0.0712	0.0247	0.0246	0.0697	0.0691	0.0274	0.0136	0.0589	0.0002	0.0528	0.0690	0.0201	0.0284	0.0712	0.0260	0.0261	0.0245	0.0275	0.0644	0.0253	0.0251	0.0585	0.0562	0.0261	0.0011	0.0184	0.0553	0.0004	0.0491	0.0612	0.0217	0.0331	0.0644	0.136	0.26519	T	0.196	0.28764	T	0.001	0.16867	B	0.005	0.11217	B	0.000038	0.55875	D	0.000000	1	0.81001	D	0.475	0.13142	N	-1.58	0.81987	D	-1.85	0.43334	N	0.459	0.49602	-0.6437	0.62987	T	0.142	0.46312	T	10	0.0060780346	0.00137	T	.	.	.	0.245	0.55201	.	.	.	.	0.7894849641373344	0.78900	0.348821776332	0.36742	0.779242157936	0.78813	T	0.303278	0.67564	T	-0.316591	0.07181	T	-0.176486	0.56848	T	0.0239386013980681	0.01138	T	0.987751	0.95824	D	0.27729845	0.50788	0.21772106	0.46448	0.2430736	0.47241	0.21201313	0.45652	-13.016	0.89430	D	0.09918904614847013	0.07178	0.214	0.44306	B	.;.;.	.;.;.	5.669601	0.92930	33	0.99854275506567114	0.93368	0.98739	0.86233	D	AEFDBI	0.923668	0.90050	D	0.0732190723337372	0.45217	2.781897	0.2264564783132	0.51319	3.315583	0.999999999976642	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.47	4.47	0.53770	9.994000	0.99266	8.662000	0.77976	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	14.669	0.68536	826	0.39940	.;.;.	FAM136A	Artery_Coronary	.	.	.	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	0.068479	0.050505	0.062500	0.078947	0.050000	0.086207	0.054878	0.102273	0.1429	3324.34	33	chr2	70959974	.	G	A	3324.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.63;DP=458;ExcessHet=0.3476;FS=4.396;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=2.15;SOR=0.754	GT:AD:DP:GQ:PL	0/1:87,84:171:99:2013,0,1988	5	0	2	0
chr2	73448563	73448563	A	G	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon8:c.A2036G:p.Y679C,ALMS1:NM_015120:exon8:c.A2036G:p.Y679C	Alstrom syndrome, Autosomal recessive	1	1512	7	2	0	11	0.00362438	.	.	YES	207019	Cardiovascular_phenotype|not_specified|Monogenic_diabetes|Alstrom_syndrome|not_provided	MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.191	0.00472583065026	0.0019	0.000798722	0.0016	0.0004	0.0005	0	0.0008	0.0021	0.0011	0.0023	0.0016753	259	154602	rs199573929	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0028	0.0004	0.0004	3.828e-05	2.52e-05	0.0006	0.0007	0.0029	0.0017	0.0028	0.0015	0.0015	0.0016	0.0014	0.0027	0.0013	0.0013	0.0022	0.0021	0.0006	0.0033	0.0007	0	0	0.0004	0	0.0025	0.0009	0.0027	.	.	.	0.109	0.37589	T	.	.	.	.	.	.	0.664740	0.10396	N	0.821953	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.573	0.59648	-1.0407	0.17101	T	0.064	0.26491	T	10	0.015712231	0.00330	T	0.004726	0.11753	T	.	.	.	.	0.214338557667	0.21045	0.19394353760193353	0.19312	.	.	0.383184611797	0.22708	T	0.037831	0.24619	T	-0.218648	0.18177	T	-0.0845151	0.64573	T	0.0355078923168753	0.02896	T	0.507849	0.16117	T	0.058439568	0.11757	0.049581744	0.07607	0.058439568	0.11756	0.049581744	0.07607	-6.795	0.52522	T	.	.	0.113	0.22171	B	.;.;.	.;.;.	1.267483	0.16661	12.68	0.97187471934253267	0.32749	0.07874	0.13865	N	AEFBI	0.042849	0.06699	N	-0.517791218083216	0.21505	1.141729	-0.793688910764403	0.14650	0.7665409	0.899721521882538	0.26058	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.11	-3.56	0.04330	-0.105000	0.10876	-4.647000	0.02052	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3048:0.2808:0.0:0.4145	5.059	0.13883	491	0.76657	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1201.44	77	chr2	73448563	.	A	G	1201.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.06;DP=588;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.499;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,46:124:99:0|1:73448542_T_G:1212,0,2044:73448542	6	0	1	0
chr2	108767182	108767182	C	G	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.C6643G:p.P2215A	.	.	.	.	.	.	.	.	.	.	.	365493	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	0.00394964116308	.	.	4.202e-05	0.0001	8.688e-05	0	0	4.583e-05	0	0	3.84e-05	1	26028	rs775798185	2.535e-05	4.309e-05	3.136e-05	1.928e-05	8.984e-05	1.87e-05	1.633e-05	2.381e-05	1.431e-05	8.984e-05	6.709e-05	0	0	3.744e-05	0	1.889e-05	4.983e-05	5.803e-05	2.628e-05	2.626e-05	2.569e-05	2.69e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0	0.416	0.09958	T	0.459	0.12632	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999965	0.18878	N	0.345	0.11182	N	1.83	0.24841	T	-1.64	0.39314	N	0.09	0.06854	-0.9694	0.37324	T	0.022	0.09147	T	9	0.043234944	0.03151	T	0.00395	0.09337	T	0.040	0.10527	0.196	0.10839	0.193917141947	0.19028	0.2309071010697257	0.23005	0.339808001112	0.35931	0.293872952461	0.09491	T	0.269668	0.64188	T	-0.430367	0.01475	T	-0.619301	0.11239	T	0.0125494816398467	0.00208	T	0.672333	0.28093	T	0.0260625	0.01617	0.03246135	0.01986	0.0260625	0.01617	0.03246135	0.01985	-2.608	0.06564	T	0.051310640584313776	0.00932	0.057	0.00583	B	.	.	0.462742	0.08323	5.073	0.55394647819266307	0.05333	0.16177	0.19267	N	AEFBI	0.053811	0.09728	N	-1.08972081876837	0.06831	0.3156088	-1.00846424590017	0.09598	0.4784522	0.986469892709175	0.31068	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.4	1.21	0.20240	0.986000	0.29190	0.644000	0.20348	0.599000	0.40250	0.383000	0.26031	0.006000	0.19429	0.325000	0.25087	0.1018:0.4937:0.2322:0.1723	3.675	0.07824	846	0.36215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	349.44	46	chr2	108767182	.	C	G	349.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=10.3;DP=706;ExcessHet=0;FS=41.954;MLEAC=1;MLEAF=0.071;MQ=43.9;MQRankSum=-5.881;QD=0.73;ReadPosRankSum=-1.492;SOR=5.022	GT:AD:DP:GQ:PL	0/1:432,47:479:99:360,0,10958	6	0	1	0
chr2	113062899	113062899	T	C	UTR3	IL36RN	NM_173170:c.*222T>C;NM_012275:c.*222T>C	.	.	Psoriasis 14, pustular, Autosomal recessive	910	207	66	339	0	744	0.642487	.	.	.	283604	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.108433	16764	154602	rs2515401	0.6460	0.6350	0.6359	0.6549	0.7967	0.6440	0.6431	0.7899	0.7872	0.7121	0.6981	0.6741	0.7292	0.6065	0.7411	0.6034	0.6506	0.7967	0.6525	0.6525	0.6494	0.6557	0.8018	0.6490	0.6476	0.7807	0.7721	0.7072	0.7566	0.6635	0.6876	0.7070	0.6292	0.7381	0.6008	0.6886	0.8018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	224.6	2	chr2	113062899	.	T	C	224.6	.	AC=4;AF=0.5;AN=8;BaseQRankSum=1.28;DP=15;ExcessHet=0.3892;FS=3.09;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=20.42;ReadPosRankSum=0;SOR=2.584	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	1	1	2	3
chr2	113062953	113062953	A	G	UTR3	IL36RN	NM_173170:c.*276A>G;NM_012275:c.*276A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1089	122	46	265	0	576	0.702439	.	.	.	283793	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.64154	16698	26028	rs1800930	0.6402	0.5794	0.6263	0.6522	0.7949	0.6378	0.6368	0.7880	0.7851	0.7003	0.6800	0.6607	0.7105	0.5871	0.7339	0.5921	0.6385	0.7949	0.6528	0.6527	0.6496	0.6560	0.8014	0.6494	0.6480	0.7803	0.7717	0.7079	0.7577	0.6634	0.6885	0.7078	0.6301	0.7381	0.6008	0.6883	0.8014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.6	232.79	2	chr2	113062953	.	A	G	232.79	.	AC=6;AF=0.6;AN=10;DP=13;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.6;MQ=60;QD=29.1;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,4:4:12:131,12,0	2	3	0	2
chr2	113063003	113063003	C	A	UTR3	IL36RN	NM_173170:c.*326C>A;NM_012275:c.*326C>A	.	.	Psoriasis 14, pustular, Autosomal recessive	1153	102	28	239	0	506	0.712676	.	.	.	283612	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715455	.	.	.	.	.	.	.	.	0.641694	16702	26028	rs2515402	0.6503	0.5392	0.6312	0.6662	0.7952	0.6475	0.6464	0.7882	0.7853	0.7079	0.6852	0.6657	0.7045	0.6007	0.7372	0.5959	0.6436	0.7952	0.6523	0.6524	0.6493	0.6555	0.8017	0.6489	0.6475	0.7806	0.7720	0.7070	0.7582	0.6634	0.6888	0.7075	0.6290	0.7381	0.6006	0.6879	0.8017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	121.3	2	chr2	113063003	.	C	A	121.3	.	AC=4;AF=0.333;AN=12;DP=12;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;QD=24.26;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	4	2	0	1
chr2	113063078	113063078	A	T	UTR3	IL36RN	NM_173170:c.*401A>T;NM_012275:c.*401A>T	.	.	Psoriasis 14, pustular, Autosomal recessive	1209	73	21	219	0	459	0.758678	.	.	.	282259	not_provided|Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108032	16702	154602	rs3180234	0.6596	0.4268	0.6382	0.6777	0.8001	0.6565	0.6553	0.7925	0.7894	0.6759	0.6937	0.6753	0.7131	0.6192	0.7623	0.6046	0.6542	0.8001	0.6407	0.6407	0.6374	0.6442	0.8010	0.6373	0.6359	0.7799	0.7713	0.6662	0.7582	0.6591	0.6886	0.7087	0.6294	0.7347	0.6006	0.6796	0.8010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	59.33	.	chr2	113063078	.	A	T	59.33	.	AC=2;AF=0.25;AN=8;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=29.67;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:70,6,0	3	1	0	3
chr2	113063095	113063095	A	G	UTR3	IL36RN	NM_173170:c.*418A>G;NM_012275:c.*418A>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1204	76	20	222	0	464	0.753247	.	.	.	283794	Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided|Generalized_pustular_psoriasis	MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715056	.	.	.	.	.	.	.	.	0.108239	16734	154602	rs3180235	0.6666	0.4191	0.6459	0.6842	0.8049	0.6634	0.6621	0.7971	0.7939	0.7199	0.7068	0.6777	0.7170	0.6252	0.7704	0.6115	0.6626	0.8049	0.6525	0.6524	0.6495	0.6557	0.8016	0.6491	0.6477	0.7805	0.7719	0.7072	0.7599	0.6639	0.6885	0.7079	0.6290	0.7381	0.6007	0.6878	0.8016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	33.48	.	chr2	113063095	.	A	G	33.48	.	AC=2;AF=0.5;AN=4;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;QD=33.48;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,1:1:3:40,3,0	1	1	0	5
chr2	113063237	113063237	C	G	UTR3	IL36RN	NM_173170:c.*560C>G;NM_012275:c.*560C>G	.	.	Psoriasis 14, pustular, Autosomal recessive	1358	52	16	96	0	208	0.666667	.	.	.	283621	Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau|not_provided	MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.715256	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs2472188	0.6442	0.2093	0.6229	0.6642	0.8136	0.6347	0.6308	0.7836	0.7715	0.7306	0.7069	0.6489	0.6812	0.5876	0.7857	0.5765	0.6300	0.8136	0.6525	0.6525	0.6495	0.6556	0.8015	0.6491	0.6477	0.7804	0.7718	0.7072	0.7582	0.6636	0.6882	0.7068	0.6303	0.7381	0.6007	0.6873	0.8015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.6667	137.5	.	chr2	113063237	.	C	G	137.5	.	AC=4;AF=0.667;AN=6;DP=9;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=60;QD=22.92;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	1	2	0	4
chr2	127057480	127057480	G	C	exonic	BIN1	.	nonsynonymous SNV	BIN1:NM_001320641:exon11:c.C1031G:p.P344R,BIN1:NM_139347:exon11:c.C1031G:p.P344R,BIN1:NM_139348:exon11:c.C1031G:p.P344R,BIN1:NM_001320640:exon12:c.C1124G:p.P375R,BIN1:NM_001320642:exon12:c.C1043G:p.P348R,BIN1:NM_139343:exon12:c.C1124G:p.P375R,BIN1:NM_139346:exon12:c.C1076G:p.P359R	Myopathy, centronuclear, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1326370	Myopathy,_centronuclear,_2|not_provided	MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200,Orphanet:169186|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.343	0.133611964768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.78490	D	0.052	0.63918	T	0.993	0.90584	D	0.937	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.895	0.83812	M	1.17	0.55608	T	-6.95	0.93475	D	0.58	0.78546	-0.4310	0.71034	T	0.323	0.69212	T	10	0.6239728	0.68137	D	0.133612	0.81600	D	0.343	0.66488	0.291	0.25241	0.817751426059	0.81603	0.6317577599021794	0.63109	0.940450297406	0.72188	0.787007808685	0.79988	T	0.65375	0.89525	D	0.171912	0.71299	D	0.00916363	0.70929	D	0.993876159191132	0.84863	D	0.948405	0.83523	D	0.70922375	0.78565	0.70377296	0.82540	0.70922375	0.78566	0.70377296	0.82541	-16.225	0.98078	D	0.6776583254216104	0.75360	0.501	0.80861	A	.;.;.;.	.;.;.;.	4.738564	0.76397	26.5	0.99865648199799839	0.94366	0.99765	0.99303	D	AEFDBI	0.884570	0.81437	D	0.812070727867823	0.86855	9.021382	0.812633446474509	0.90658	10.50839	0.999999999992452	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	8.991000	0.93075	11.750000	0.95386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.102	0.89436	968	0.07033	.;.;.;.	.	.	.	.	.	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	1731.45	37	chr2	127057480	.	G	C	1731.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.599;DP=404;ExcessHet=0;FS=1.098;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-0.241;SOR=0.639	GT:AD:DP:GQ:PL	0/1:119,85:204:99:1742,0,2774	6	0	1	0
chr2	127057612	127057612	G	C	intronic	BIN1	.	.	.	Myopathy, centronuclear, autosomal recessive, Autosomal recessive	0	1514	8	0	0	8	0.00263505	0.1388	0.288	.	365351	not_provided|Myopathy,_centronuclear,_2	MedGen:C3661900|MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200,Orphanet:169186	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0001	0	0.0006	6.47e-05	10	154602	rs759676621	0.0002	0.0002	0.0001	0.0002	0.0087	0.0001	0.0001	0.0066	0.0058	0.0003	0.0003	0	0	0	0.0087	9.833e-05	0.0005	0.0003	0.0002	0.0002	0.0001	0.0003	0.0004	0.0001	0.0001	0.0001	8.281e-05	2.408e-05	0	0.0003	0	0	0	0.0238	0.0002	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1403.45	37	chr2	127057612	.	G	C	1403.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.559;DP=310;ExcessHet=0;FS=1.591;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-1.202;SOR=0.534	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1414,0,1431	6	0	1	0
chr2	162318079	162318079	G	A	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon1:c.C229T:p.R77W	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1088	9	0	0	9	0.00411899	.	.	.	690840	IFIH1-related_disorder|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|Basal_ganglia_calcification,_idiopathic,_childhood-onset|not_provided	.|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MONDO:MONDO:0007247,MedGen:C1861967,OMIM:114100,Orphanet:51|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	0.0202241411949	0.0004	0.000998403	0.0008	0	0	0.0030	0	0.0008	0	0.0013	0.0007438	115	154602	rs147278787	0.0007	0.0007	0.0006	0.0007	0.0028	0.0006	0.0006	0.0024	0.0023	5.974e-05	4.472e-05	0	0.0028	5.618e-05	0.0014	0.0006	0.0007	0.0012	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0012	0.0009	4.811e-05	0	0	0	0.0021	0	0	0.0006	0	0.0010	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.72	0.55529	P	0.106257	0.19623	N	0.527045	1	0.08975	N	2.74	0.80084	M	3.41	0.05574	T	-2.2	0.76496	N	0.318	0.35832	-1.0852	0.06371	T	0.031	0.13242	T	10	0.0058715343	0.00131	T	0.020224	0.42769	T	0.064	0.18567	.	.	0.610390267789	0.60725	0.5014091761855959	0.50062	0.140614320253	0.15858	0.290052473545	0.08930	T	0.245722	0.61507	T	-0.490527	0.00645	T	-0.47949	0.24501	T	0.10718718500282	0.13129	T	0.858314	0.58582	D	0.11100291	0.26234	0.09653028	0.22940	0.11100291	0.26233	0.09653028	0.22939	-7.691	0.58945	D	0.2342744088711641	0.31715	0.139	0.35056	B	.;.;.;.	.;.;.;.	2.152980	0.27425	17.46	0.99858909068011814	0.93729	0.08574	0.14484	N	AEFDGBHCI	0.155917	0.28119	N	-0.209086342422667	0.32760	1.851202	-0.409202670556046	0.24727	1.355694	0.999999969020962	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.71	0.69187	0	.	.	5.43	0.562	0.16476	-0.060000	0.11669	0.359000	0.17556	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.310000	0.24737	0.0721:0.0802:0.6214:0.2263	8.820	0.34182	547	0.72440	Caspase recruitment domain;Caspase recruitment 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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.07143	2681.46	34	chr2	162318079	.	G	A	2681.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.027;DP=361;ExcessHet=0;FS=8.385;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=1.18;SOR=0.538	GT:AD:DP:GQ:PL	0/1:82,107:189:99:2692,0,1913	6	0	1	0
chr2	169294718	169294720	AAA	-	intronic	LRP2	.	.	.	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	283582	not_provided|not_specified|Donnai-Barrow_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0909	0.0720	0.0505	0.0735	0.1765	0.0822	0.1111	0.1048	0.0002305	6	26028	rs759076090	0.1851	0.1738	0.1848	0.1854	0.2132	0.1842	0.1839	0.2089	0.2071	0.1690	0.1813	0.1909	0.2132	0.1973	0.1874	0.1829	0.1955	0.1769	0.0022	0.0046	0.0019	0.0024	0.0064	0.0019	0.0018	0.0042	0.0035	0.0012	0	0.0010	0.0060	0.0022	0.0020	0.0046	0.0024	0.0029	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2395.03	10	chr2	169294717	.	TAAA	T	2395.03	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.908;DP=297;ExcessHet=0;FS=2.234;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=28.51;ReadPosRankSum=0.447;SOR=0.586	GT:AD:DP:GQ:PL	1/0:0,17:33:97:829,203,153	0	0	6	1
chr2	174750181	174750181	A	-	intronic	CHRNA1	.	.	.	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 1A, slow-channel, Autosomal dominant;Myasthenic syndrome, congenital, 1B, fast-channel, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	285836	Congenital_Myasthenic_Syndrome,_Dominant/Recessive|not_provided|Autosomal_recessive_multiple_pterygium_syndrome	MedGen:CN239246|MedGen:C3661900|MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1009	0.2306	0.0531	0.0740	0.0576	0.0815	0.1098	0.1662	0.0003842	10	26028	rs67309103	0.1040	0.1178	0.1022	0.1057	0.2650	0.1035	0.1033	0.2601	0.2580	0.2650	0.0637	0.0864	0.1054	0.0524	0.1415	0.0962	0.1146	0.1809	0.1411	0.1427	0.1412	0.1409	0.3022	0.1394	0.1388	0.2976	0.2958	0.3022	0.0573	0.0874	0.0715	0.0814	0.0376	0.1514	0.0761	0.1283	0.2175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	6005.62	23	chr2	174750180	.	CA	C	6005.62	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.929;DP=314;ExcessHet=0;FS=2.004;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=27.8;ReadPosRankSum=-0.765;SOR=1.543	GT:AD:DP:GQ:PL	0/1:3,10:44:99:987,574,530	5	0	2	0
chr2	178431939	178431939	T	C	ncRNA_intronic	CHROMR	.	.	.	.	60	1169	290	3	0	296	0.112377	.	.	.	283886	Dystonia_16|not_provided	MONDO:MONDO:0012789,MedGen:C2677567,OMIM:612067,Orphanet:210571|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122138	3179	26028	rs3997877	0.2943	0.2403	0.3023	0.2867	0.3147	0.2932	0.2928	0.3134	0.3128	0.1778	0.2978	0.2815	0.3023	0.2193	0.2375	0.3147	0.2731	0.2033	0.2253	0.2283	0.2273	0.2233	0.2781	0.2233	0.2225	0.2660	0.2612	0.1598	0.3223	0.2653	0.2686	0.2781	0.2030	0.2021	0.2530	0.2250	0.2176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	208.27	4	chr2	178431939	.	T	C	208.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.967;DP=33;ExcessHet=0.4139;FS=3.123;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=0.712;SOR=0.141	GT:AD:DP:GQ:PL	0/1:4,6:10:99:181,0,135	4	0	2	1
chr2	218890100	218890100	G	A	exonic	WNT10A	.	nonsynonymous SNV	WNT10A:NM_025216:exon3:c.G493A:p.G165R	Odontoonychodermal dysplasia, Autosomal recessive;Schopf-Schulz-Passarge syndrome, Autosomal recessive;Tooth agenesis, selective, 4, Autosomal recessive, Autosomal dominant	0	1515	7	0	0	7	0.00230491	.	.	.	284754	Tooth_agenesis|WNT10A-related_disorder|Odonto-onycho-dermal_dysplasia|Tooth_agenesis,_selective,_4|SchC6pf-Schulz-Passarge_syndrome|not_provided	Human_Phenotype_Ontology:HP:0009804,MedGen:C4024202|.|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980,Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400,Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750,Orphanet:50944|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.351	.	0.0078	0.00219649	0.0073	0.0022	0.0016	0	0.0109	0.0116	0.0044	0.0002	0.0075743	1171	154602	rs77583146	0.0106	0.0106	0.0109	0.0104	0.0127	0.0105	0.0104	0.0125	0.0125	0.0014	0.0024	0.0024	5.038e-05	0.0105	0.0019	0.0127	0.0095	0.0002	0.0072	0.0072	0.0077	0.0066	0.0122	0.0068	0.0067	0.0115	0.0112	0.0019	0.0263	0.0028	0.0029	0	0.0084	0.0034	0.0122	0.0076	0.0002	0.032	0.44694	D	0.24	0.24406	T	0.106	0.26037	B	0.135	0.33210	B	0.068570	0.21664	N	0.457875	1	0.81001	D	2.2	0.62015	M	-0.99	0.75911	T	-1.91	0.44471	N	0.83	0.82559	-0.3663	0.73074	T	0.309	0.67994	T	10	0.012216538	0.00263	T	.	.	.	0.351	0.67234	0.491	0.57732	0.856919727582	0.85554	0.8034949398196154	0.80303	0.462751098622	0.45800	0.754782140255	0.75153	T	0.570269	0.85759	D	-0.293817	0.09256	T	-0.183793	0.56169	T	0.0301332197827794	0.02010	T	0.918408	0.70674	D	0.18418792	0.39723	0.15009041	0.35411	0.17426178	0.38220	0.1934595	0.42915	-6.201	0.47931	T	0.2199963269444858	0.29652	0.338	0.55767	B	.	.	3.191168	0.43354	21.7	0.99640562764167695	0.76633	0.99361	0.95020	D	AEFDBI	0.873033	0.79518	D	0.166278977081154	0.49585	3.157276	0.249427889224811	0.52619	3.435357	0.999999999999722	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	4.46	4.46	0.53567	7.873000	0.85565	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.312000	0.24784	0.0:0.0:1.0:0.0	16.205	0.81944	777	0.48198	.	PLCD4	Cells_Cultured_fibroblasts	BCS1L	Cells_Cultured_fibroblasts	.	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.07143	1890.83	33	chr2	218890100	.	G	A	1890.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.65;DP=295;ExcessHet=0;FS=3.415;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=0.205;SOR=1.02	GT:AD:DP:GQ:PL	0/1:58,61:119:99:1901,0,1472	6	0	1	0
chr2	222201817	222201817	-	A	UTR3	PAX3	NM_181457:c.*106_*107insT	.	.	Craniofacial-deafness-hand syndrome, Autosomal dominant;Rhabdomyosarcoma 2, alveolar, Autosomal recessive;Waardenburg syndrome, type 1, Autosomal dominant;Waardenburg syndrome, type 3, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	287842	Waardenburg_syndrome|Craniofacial-deafness-hand_syndrome|not_provided	MONDO:MONDO:0018094,MedGen:C3266898,OMIM:PS193500,Orphanet:3440|MONDO:MONDO:0007395,MedGen:C1852510,OMIM:122880,Orphanet:1529|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs552778546	0.2754	0.2853	0.2770	0.2737	0.2818	0.2746	0.2743	0.2809	0.2806	0.2280	0.1885	0.2779	0.2631	0.2428	0.2626	0.2818	0.2750	0.2734	0.2393	0.2287	0.2376	0.2413	0.3120	0.2371	0.2362	0.2977	0.2919	0.2002	0.1987	0.2236	0.2809	0.3104	0.2498	0.3211	0.2518	0.2275	0.3120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	538.28	6	chr2	222201817	.	C	CA	538.28	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0;DP=95;ExcessHet=6.1542;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.209;SOR=0.818	GT:AD:DP:GQ:PL	0/1:6,9:17:99:171,0,118	3	0	3	1
chr2	227293238	227293238	G	A	exonic	COL4A3	.	synonymous SNV	COL4A3:NM_000091:exon38:c.G3258A:p.G1086G	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	0	1496	26	0	0	26	0.00861498	.	.	YES	250646	Autosomal_recessive_Alport_syndrome|Inborn_genetic_diseases|not_specified|not_provided|Alport_syndrome	MONDO:MONDO:0008762,MedGen:C4746745,OMIM:203780,Orphanet:63,Orphanet:88919|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0040	0.00279553	0.0040	0.0009	0.0013	0	0.0003	0.0054	0.0033	0.0053	0.0040362	624	154602	rs147085074	0.0048	0.0048	0.0048	0.0048	0.0199	0.0047	0.0047	0.0169	0.0158	0.0011	0.0026	0.0300	2.519e-05	0.0005	0.0199	0.0046	0.0070	0.0047	0.0038	0.0038	0.0036	0.0041	0.0065	0.0036	0.0035	0.0055	0.0051	0.0008	0	0.0065	0.0302	0	0.0004	0.0136	0.0046	0.0057	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.013595	0.005051	0.012228	0.032164	0.050000	0.000000	0.000000	0.011364	0.07143	1884.44	41	chr2	227293238	.	G	A	1884.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.227;DP=337;ExcessHet=0;FS=1.286;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=1.8;SOR=0.569	GT:AD:DP:GQ:PL	0/1:73,76:149:99:1895,0,1735	6	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	5822.12	57	chr2	233681881	.	T	G	5822.12	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.572;DP=501;ExcessHet=3.6764;FS=4.316;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.211;SOR=0.989	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1194,0,1318	1	1	5	0
chr2	233760233	233760233	-	AT	intronic	UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	27314	Crigler-Najjar_syndrome|not_specified|UGT1A1-related_disorder|not_provided|Crigler-Najjar_syndrome,_type_II|BILIRUBIN,_SERUM_LEVEL_OF,_QUANTITATIVE_TRAIT_LOCUS_1|Lucey-Driscoll_syndrome|Gilbert_syndrome|Crigler-Najjar_syndrome_type_1|Irinotecan_response	MONDO:MONDO:0009044,MedGen:C5551003,Orphanet:205|MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0011725,MedGen:C2931132,OMIM:606785,Orphanet:205,Orphanet:79235|MedGen:C1866173,OMIM:601816|MONDO:MONDO:0009383,MedGen:C0270210,OMIM:237900,Orphanet:2312|MONDO:MONDO:0007745,MedGen:C0017551,OMIM:143500|MONDO:MONDO:0021020,MedGen:C0010324,OMIM:218800,Orphanet:79234|MedGen:CN077989	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	274.41	9	chr2	233760233	.	C	CAT	274.41	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.967;DP=62;ExcessHet=1.383;FS=4.624;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-0.163;SOR=0.061	GT:AD:DP:GQ:PL	0/1:10,6:16:99:177,0,329	3	0	3	1
chr3	10064724	10064724	C	T	intronic	FANCD2	.	.	.	Fanconi anemia, complementation group D2, Autosomal recessive	0	1353	169	0	0	169	0.0587826	0	0.002	.	215265	Fanconi_anemia_complementation_group_A|Hereditary_breast_ovarian_cancer_syndrome|not_provided|Fanconi_anemia_complementation_group_D2|Fanconi_anemia|not_specified	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0063	0.0008	0.0058	0.0009	0.0020	0.0022	0.0013	5.82e-05	9	154602	rs4019784	0.0006	0.0104	0.0006	0.0006	0.0171	0.0006	0.0006	0.0141	0.0130	0.0010	0.0002	0.0004	0.0028	0.0031	0.0171	0.0003	0.0011	0.0006	0.0021	0.0255	0.0020	0.0022	0.0034	0.0019	0.0018	0.0029	0.0027	0.0034	0.0012	0.0025	0.0013	0.0032	0.0020	0	0.0012	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	53.8	36	chr3	10064724	.	C	T	53.8	.	AC=3;AF=0.3;AN=10;BaseQRankSum=1.08;DP=270;ExcessHet=1.383;FS=7.153;MLEAC=3;MLEAF=0.3;MQ=57.73;MQRankSum=-5.858;QD=0.32;ReadPosRankSum=-2.106;SOR=1.663	GT:AD:DP:GQ:PL	0/1:77,8:85:13:13,0,2071	2	0	3	2
chr3	10289773	10289773	G	T	exonic	GHRL	.	nonsynonymous SNV	GHRL:NM_001134944:exon2:c.C178A:p.L60M,GHRL:NM_001134945:exon2:c.C175A:p.L59M,GHRL:NM_001302825:exon3:c.C214A:p.L72M,GHRL:NM_001134941:exon4:c.C211A:p.L71M,GHRL:NM_001302822:exon4:c.C214A:p.L72M,GHRL:NM_001302823:exon4:c.C211A:p.L71M,GHRL:NM_001302824:exon4:c.C214A:p.L72M,GHRL:NM_016362:exon4:c.C214A:p.L72M,GHRL:NM_001302821:exon5:c.C214A:p.L72M	.	376	1002	128	16	0	160	0.0739372	.	.	.	20101	not_provided|Inherited_obesity|Metabolic_syndrome,_susceptibility_to|Obesity,_age_at_onset_of|Obesity	MedGen:C3661900|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|MedGen:C2676079|MedGen:C4016925|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	.	0.0588	0.0832668	0.0856	0.0200	0.0399	0.1930	0.1250	0.0847	0.1134	0.0889	0.0837505	12948	154602	rs696217	0.0829	0.0833	0.0823	0.0834	0.1932	0.0825	0.0823	0.1896	0.1881	0.0185	0.0506	0.1274	0.1932	0.1238	0.0611	0.0785	0.0865	0.0892	0.0727	0.0730	0.0696	0.0759	0.1951	0.0716	0.0711	0.1850	0.1810	0.0217	0.0352	0.0728	0.1269	0.1951	0.1366	0.0816	0.0810	0.0705	0.0913	0.112	0.51853	T	0.191	0.59732	T	1.0	0.90584	D	0.999	0.92359	D	0.067916	0.21708	N	0.330746	0.982043	0.58761	P	2.36	0.67893	M	1.38	0.60734	T	-0.42	0.26843	N	0.377	0.43706	-1.0407	0.17101	T	0.001	0.00255	T	9	0.0015681088	0.00018	T	.	.	.	0.124	0.34239	.	.	.	.	0.1238158666168449	0.12307	0.0539738033869	0.05963	0.447462975979	0.31598	T	0.192568	0.54777	T	-0.475863	0.00782	T	-0.3125	0.43390	T	0.024983608988191	0.01270	T	0.712529	0.42343	T	0.102517754	0.24226	0.08301495	0.18992	0.102517754	0.24226	0.08301495	0.18992	-4.801	0.36808	T	0.27672248696563045	0.37134	0.160	0.36012	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.498192	0.48928	22.7	0.99158779589247237	0.54043	0.74171	0.36280	D	AEFDBCI	0.170422	0.29733	N	0.386817246144049	0.60708	4.262665	0.260991158776893	0.53276	3.497412	0.998737675853913	0.37559	0.533608	0.22052	0	0.573116	0.20632	0	0.536957	0.11973	0	0.638833	0.57524	0	.	.	4.34	3.44	0.38486	2.297000	0.43254	5.210000	0.47963	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.486000	0.28701	0.1118:0.0:0.8882:0.0	8.378	0.31614	715	0.56137	Motilin/ghrelin-associated peptide;.;.;.;.;.;Motilin/ghrelin-associated peptide;Motilin/ghrelin-associated peptide	LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852|LINC00852	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Esophagus_Muscularis|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Thyroid|Whole_Blood	IRAK2|IRAK2|GHRL	Adipose_Subcutaneous|Small_Intestine_Terminal_Ileum|Whole_Blood	rs696217	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	0.076032	0.095960	0.061141	0.064327	0.050000	0.077586	0.094512	0.064394	0.3333	4340.73	70	chr3	10289773	.	G	T	4340.73	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.012;DP=440;ExcessHet=3.1439;FS=1.24;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.186;SOR=0.618	GT:AD:DP:GQ:PL	0/1:65,63:128:99:1427,0,1598	2	0	4	1
chr3	27721936	27721936	-	CGGCGC	exonic	EOMES	.	nonframeshift insertion	EOMES:NM_001278182:exon1:c.358_359insGCGCCG:p.A119_A120insGA,EOMES:NM_005442:exon1:c.358_359insGCGCCG:p.A119_A120insGA	.	335	305	451	409	22	1291	0.675359	.	.	.	207064	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1220	0.536142	0.4783	0.2111	0.4286	0.8182	.	0.2673	0.5588	0.5465	0.0244305	3777	154602	rs368178421	0.3766	0.3336	0.3749	0.3784	0.7321	0.3757	0.3753	0.7234	0.7198	0.2946	0.5200	0.3958	0.7321	0.3378	0.4780	0.3617	0.4008	0.5188	0.4124	0.4144	0.4050	0.4202	0.8142	0.4097	0.4086	0.7933	0.7848	0.3178	0.2969	0.5654	0.4543	0.8142	0.3744	0.4650	0.3919	0.4284	0.6803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1153.74	8	chr3	27721936	.	G	GCGGCGC	1153.74	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.967;DP=73;ExcessHet=0.7136;FS=2.731;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=24.55;ReadPosRankSum=-1.864;SOR=0.302	GT:AD:DP:GQ:PL	0/1:8,8:16:99:308,0,308	2	1	3	1
chr3	43576874	43576874	T	C	exonic	ANO10	.	nonsynonymous SNV	ANO10:NM_001204833:exon4:c.A647G:p.Y216C,ANO10:NM_001204832:exon5:c.A782G:p.Y261C,ANO10:NM_001346466:exon5:c.A782G:p.Y261C,ANO10:NM_001346469:exon5:c.A782G:p.Y261C,ANO10:NM_001204831:exon6:c.A980G:p.Y327C,ANO10:NM_001346463:exon6:c.A980G:p.Y327C,ANO10:NM_001346464:exon6:c.A980G:p.Y327C,ANO10:NM_001346465:exon6:c.A980G:p.Y327C,ANO10:NM_001346467:exon6:c.A980G:p.Y327C,ANO10:NM_001346468:exon6:c.A980G:p.Y327C,ANO10:NM_018075:exon6:c.A980G:p.Y327C	Spinocerebellar ataxia, autosomal recessive 10, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	.	294876	Inborn_genetic_diseases|Autosomal_recessive_spinocerebellar_ataxia_10|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013392,MedGen:C3150998,OMIM:613728,Orphanet:284289|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.308	0.0251139182337	0.0052	0.00119808	0.0033	0.0010	0.0029	0	0.0006	0.0048	0.0033	0.0019	0.0036222	560	154602	rs146569520	0.0048	0.0048	0.0049	0.0047	0.0068	0.0047	0.0047	0.0055	0.0055	0.0011	0.0030	0.0036	0	0.0003	0.0068	0.0056	0.0042	0.0018	0.0035	0.0035	0.0039	0.0031	0.0058	0.0033	0.0032	0.0053	0.0052	0.0009	0	0.0048	0.0029	0	0.0002	0.0034	0.0058	0.0047	0.0006	0.185	0.23450	T	0.174	0.31125	T	0.003	0.11197	B	0.008	0.13708	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	0.13	0.60973	T	-1.96	0.45404	N	0.521	0.57006	-0.9985	0.30339	T	0.109	0.39462	T	10	0.009207547	0.00208	T	0.025114	0.48100	D	0.308	0.62947	.	.	0.585747170787	0.58248	0.8071596737399566	0.80670	0.13326417044	0.15006	0.766194939613	0.76853	T	0.060622	0.31436	T	-0.0842941	0.39013	T	0.11268	0.77751	D	0.0220382673705165	0.00914	T	0.940306	0.77472	D	0.55774677	0.70385	0.4430752	0.67536	0.55774677	0.70386	0.4430752	0.67536	-6.737	0.52088	T	0.1813730826545785	0.23384	0.082	0.08948	B	.;.;.;.	.;.;.;.	2.562669	0.33191	19.27	0.98754908936297137	0.45724	0.96661	0.70270	D	AEFDBI	0.681186	0.64462	D	-0.0672540045936526	0.38835	2.280714	0.139732704223985	0.46600	2.903425	0.999999992618184	0.74766	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	4.214000	0.58324	3.429000	0.38303	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.885	0.79020	612	0.66786	.;.;.;.	.	.	.	.	.	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	0.005035	0.000000	0.006793	0.002924	0.000000	0.000000	0.003049	0.011364	0.07143	1766.44	34	chr3	43576874	.	T	C	1766.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.722;DP=338;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.104;SOR=0.659	GT:AD:DP:GQ:PL	0/1:84,66:150:99:1777,0,2378	6	0	1	0
chr3	142555928	142555928	T	C	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon9:c.A2098G:p.K700E,ATR:NM_001184:exon10:c.A2290G:p.K764E	Seckel syndrome 1, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	167817	not_provided|Seckel_syndrome_1	MedGen:C3661900|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.215	.	0.0045	0.00199681	0.0033	0.0004	0.0018	0	0.0017	0.0050	0.0066	0.0011	0.0032535	503	154602	rs77208665	0.0047	0.0047	0.0050	0.0044	0.0054	0.0046	0.0046	0.0053	0.0053	0.0006	0.0023	0.0067	0	0.0021	0.0031	0.0054	0.0062	0.0008	0.0034	0.0034	0.0033	0.0034	0.0061	0.0031	0.0030	0.0051	0.0047	0.0007	0	0.0061	0.0052	0	0.0014	0.0034	0.0051	0.0028	0.0015	0.042	0.41637	D	0.021	0.58089	D	0.919	0.50927	P	0.395	0.44317	B	0.009862	0.30165	N	0.311222	0.998222	0.44650	D	1.59	0.40313	L	-0.14	0.65006	T	-1.11	0.28703	N	0.623	0.63798	-1.0098	0.26981	T	0.111	0.39935	T	10	0.009344518	0.00211	T	.	.	.	0.215	0.50805	.	.	0.792939480828	0.79101	0.3362146147416776	0.33534	0.526905215403	0.50308	0.490908294916	0.37565	T	0.076738	0.35490	T	-0.252799	0.13758	T	-0.133709	0.60658	T	0.0107096127492219	0.00151	T	0.887811	0.61653	D	0.36434728	0.58164	0.20110196	0.44074	0.31333968	0.54073	0.18879761	0.42189	-4.008	0.23923	T	.	.	0.164	0.36254	B	.	.	2.711622	0.35441	19.90	0.99745305523242089	0.83852	0.95189	0.63766	D	AEFBI	0.510940	0.53978	D	-0.0307360539605847	0.40468	2.40367	0.00525670510493034	0.39957	2.377221	0.920366960681741	0.26629	0.651	0.46895	0	0.653731	0.59785	0	0.463624	0.06942	0	0.683762	0.67416	0	.	.	5.35	4.16	0.48138	4.137000	0.57773	7.886000	0.72778	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:0.0:0.1399:0.8601	12.490	0.55234	616	0.66398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001359	0.002924	0.000000	0.008621	0.006135	0.000000	0.07143	791.63	42	chr3	142555928	.	T	C	791.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.93;DP=268;ExcessHet=0;FS=1.918;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.086;SOR=1.032	GT:AD:DP:GQ:PL	0/1:50,32:82:99:802,0,1218	6	0	1	0
chr3	160258644	160258644	-	A	ncRNA_intronic	TRIM59-IFT80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	212292	not_specified|Jeune_thoracic_dystrophy	MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3028	0.244409	0.2984	0.3269	0.1690	0.2153	0.4291	0.3213	0.3143	0.2482	0.0002305	6	26028	rs1460790711	0.2741	0.2825	0.2748	0.2734	0.3268	0.2733	0.2730	0.3214	0.3192	0.3268	0.1533	0.3455	0.1703	0.3775	0.2958	0.2784	0.2791	0.2180	0.3160	0.3146	0.3124	0.3197	0.3464	0.3136	0.3126	0.3416	0.3397	0.3464	0.5045	0.2019	0.3707	0.1787	0.4797	0.3134	0.3106	0.2913	0.2321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	895.68	20	chr3	160258644	.	G	GA	895.68	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.805;DP=185;ExcessHet=3.1439;FS=1.858;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.477;SOR=0.468	GT:AD:DP:GQ:PL	0/1:16,12:28:99:255,0,341	2	0	4	1
chr3	165773492	165773492	C	T	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon4:c.G1699A:p.A567T	Apnea, postanesthetic (3)	44	964	416	98	0	612	0.240945	.	.	YES	28259	Deficiency_of_butyrylcholinesterase|not_specified|not_provided|Butyrylcholinesterase_activity	MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.201010	0.212121	0.191576	0.211310	0.250000	0.146552	0.240854	0.196970	0.3571	2228.29	34	chr3	165773492	.	C	T	2228.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.329;DP=251;ExcessHet=0.4813;FS=7.96;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.542;SOR=1.262	GT:AD:DP:GQ:PL	0/1:26,21:47:99:566,0,599	3	1	3	0
chr3	170998041	170998041	G	A	exonic	SLC2A2	.	synonymous SNV	SLC2A2:NM_001278658:exon10:c.C1080T:p.F360F,SLC2A2:NM_001278659:exon10:c.C918T:p.F306F,SLC2A2:NM_000340:exon11:c.C1437T:p.F479F	Fanconi-Bickel syndrome, Autosomal recessive	2	712	648	160	0	968	0.404682	.	.	.	135795	not_specified|Fanconi-Bickel_syndrome|Type_2_diabetes_mellitus|not_provided	MedGen:CN169374|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3964	0.372604	0.3159	0.5942	0.2813	0.2418	0.2678	0.3020	0.3113	0.2840	0.310611	48021	154602	rs5398	0.2950	0.2951	0.2967	0.2933	0.6047	0.2943	0.2940	0.5978	0.5949	0.6047	0.2907	0.3167	0.2228	0.2633	0.3290	0.2893	0.3178	0.2786	0.3751	0.3754	0.3789	0.3713	0.5947	0.3726	0.3715	0.5885	0.5859	0.5947	0.2429	0.3398	0.3292	0.2307	0.2443	0.3151	0.2923	0.3645	0.2732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.367440	0.439394	0.398098	0.333333	0.450000	0.379310	0.328221	0.310606	0.2857	4823.02	38	chr3	170998041	.	G	A	4823.02	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.866;DP=381;ExcessHet=0.0921;FS=2.971;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=18.41;ReadPosRankSum=0.332;SOR=0.532	GT:AD:DP:GQ:PL	0/1:55,59:114:99:1424,0,1434	4	1	2	0
chr4	6300980	6300980	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	306	693	523	0	1739	0.739685	.	.	.	54598	WFS1-Related_Spectrum_Disorders|Wolfram_syndrome_1|Autosomal_dominant_nonsyndromic_hearing_loss_6|not_provided|not_specified	MedGen:CN239410|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5531	0.641573	0.6245	0.4646	0.7443	0.9358	0.5720	0.5907	0.6355	0.6352	0.616195	95265	154602	rs1801206	0.6051	0.6051	0.6041	0.6061	0.9578	0.6040	0.6036	0.9497	0.9464	0.4555	0.7260	0.6765	0.9578	0.5715	0.5902	0.5890	0.6193	0.6353	0.5756	0.5759	0.5734	0.5779	0.9332	0.5724	0.5711	0.9111	0.9021	0.4596	0.3890	0.6659	0.6603	0.9332	0.5667	0.6156	0.5925	0.6087	0.6444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.592145	0.550505	0.592391	0.529240	0.600000	0.594828	0.612805	0.643939	0.4286	17648.4	161	chr4	6300980	.	C	T	17648.4	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-2.92;DP=1050;ExcessHet=0.0509;FS=3.694;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=22.09;ReadPosRankSum=-0.049;SOR=0.922	GT:AD:DP:GQ:PL	1/1:0,276:276:99:8914,829,0	3	2	2	0
chr4	6301295	6301295	C	T	exonic	WFS1	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	10	265	679	568	0	1815	0.773987	.	.	YES	54604	WFS1-Related_Spectrum_Disorders|not_specified|Type_2_diabetes_mellitus|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_6	MedGen:CN239410|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6323	0.729433	0.6595	0.6736	0.7600	0.9441	0.5735	0.6010	0.6641	0.7013	0.648394	100243	154602	rs1801214	0.6232	0.6230	0.6215	0.6249	0.9621	0.6221	0.6216	0.9540	0.9506	0.6757	0.7449	0.6960	0.9621	0.5729	0.6281	0.5982	0.6483	0.6951	0.6443	0.6444	0.6428	0.6459	0.9402	0.6409	0.6395	0.9181	0.9091	0.6704	0.3904	0.7014	0.6817	0.9402	0.5669	0.6531	0.6019	0.6596	0.7030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.658107	0.641414	0.689373	0.599415	0.700000	0.629310	0.643293	0.696970	0.5714	16282.1	97	chr4	6301295	.	C	T	16282.1	.	AC=8;AF=0.571;AN=14;BaseQRankSum=2.24;DP=805;ExcessHet=0.0509;FS=0.603;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=21.77;ReadPosRankSum=0.236;SOR=0.79	GT:AD:DP:GQ:PL	1/1:0,192:192:99:5974,576,0	2	3	2	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	432	231	483	376	0	1235	0.727755	.	.	.	1276892	not_provided|Hereditary_attention_deficit-hyperactivity_disorder	MedGen:C3661900|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.6667	10690.6	79	chr4	9783510	.	T	C	10690.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.86;DP=547;ExcessHet=3.1439;FS=0;MLEAC=9;MLEAF=0.75;MQ=59.98;MQRankSum=0;QD=20.1;ReadPosRankSum=-0.412;SOR=0.721	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3498,336,0	0	2	4	1
chr4	38797027	38797027	C	A	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.G1805T:p.S602I	.	433	95	396	598	0	1592	0.893378	.	.	.	23399	Leprosy,_susceptibility_to,_1|Leprosy,_protection_against|TLR1-related_disorder	MONDO:MONDO:0012358,MedGen:C1835932,OMIM:609888,Orphanet:548|MedGen:C2750734|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|protective	.	.	.	.	.	.	.	.	0.056	.	0.4786	0.800519	0.5389	0.8744	0.7912	0.9899	0.1358	0.3358	0.5330	0.8978	0.490919	75897	154602	rs5743618	0.3478	0.3478	0.3322	0.3635	0.9891	0.3470	0.3467	0.9809	0.9775	0.8882	0.7620	0.5248	0.9891	0.1455	0.7954	0.2484	0.4321	0.8925	0.5230	0.5233	0.5155	0.5310	0.9882	0.5200	0.5187	0.9656	0.9564	0.8680	0.3374	0.6795	0.5378	0.9882	0.1309	0.7857	0.2742	0.5970	0.9061	1.0	0.00964	T	0.6	0.07946	T	0.0	0.02946	B	0.0	0.01387	B	0.223979	0.03474	N	1.586730	1	0.08975	P	-2.455	0.00064	N	4.65	0.01779	T	2.33	0.00281	N	0.015	0.00203	-0.9814	0.34678	T	0.000	0.00011	T	9	1.5470836e-06	0.00003	T	.	.	.	0.056	0.15993	.	.	.	.	0.194904177424025	0.19408	0.0725892304128	0.08138	0.27531477809	0.06848	T	0.049442	0.28307	T	-0.808969	0.00007	T	-0.790984	0.02138	T	0.00365530579536446	0.00039	T	0.0535946	0.00383	T	0.052709427	0.09870	0.056038916	0.09939	0.052709427	0.09870	0.056038916	0.09939	1.962	0.00053	T	.	.	0.056	0.00496	B	.;.	.;.	0.550795	0.09195	5.976	0.10915785735844558	0.00150	0.04174	0.09671	N	AEFGBCI	0.072195	0.14400	N	-1.36048708973054	0.03017	0.134138	-1.14431403439413	0.06871	0.3322031	0.970372123348399	0.29203	0.631515	0.41029	0	0.697927	0.68747	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.43	2.76	0.31527	0.245000	0.17917	0.357000	0.17536	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4839:0.3908:0.0:0.1253	8.482	0.32208	653	0.62661	.;.	FAM114A1|FAM114A1|TLR6|TLR10|TLR1|TLR6|TLR1|TLR1|FAM114A1|TLR1|TLR1|FAM114A1|TLR6|TLR6|FAM114A1|TLR1|FAM114A1|FAM114A1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Liver|Lung|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Whole_Blood	TLR1|TLR1|TLR10|TLR1|TLR1|TLR1|TLR1	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Cells_EBV-transformed_lymphocytes|Cells_EBV-transformed_lymphocytes|Lung|Spleen|Whole_Blood	chr4:38798648	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.802115	0.868687	0.845109	0.918129	0.550000	0.758621	0.542683	0.757576	0.8333	24131.1	115	chr4	38797027	.	C	A	24131.1	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-0.925;DP=977;ExcessHet=0.4139;FS=0;MLEAC=11;MLEAF=0.917;MQ=53.59;MQRankSum=-8.314;QD=25.27;ReadPosRankSum=0.571;SOR=0.728	GT:AD:DP:GQ:PL	0/1:100,83:183:99:2081,0,2613	0	4	2	1
chr4	70644498	70644498	T	C	exonic	ENAM	.	synonymous SNV	ENAM:NM_001368133:exon2:c.T2418C:p.P806P,ENAM:NM_031889:exon9:c.T3072C:p.P1024P	Amelogenesis imperfecta, type IB, Autosomal dominant;Amelogenesis imperfecta, type IC, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	892131	Amelogenesis_imperfecta|not_provided	Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0009	0.00299521	0.0021	0.0006	0.0017	0.0001	0.0002	0.0013	0.0044	0.0083	0.0019405	300	154602	rs138729240	0.0013	0.0013	0.0011	0.0016	0.0121	0.0013	0.0013	0.0099	0.0090	0.0005	0.0029	0.0029	0	1.872e-05	0.0121	0.0007	0.0027	0.0081	0.0015	0.0015	0.0014	0.0016	0.0062	0.0013	0.0013	0.0045	0.0039	0.0007	0	0.0041	0.0023	0.0008	9.423e-05	0.0136	0.0011	0.0081	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.011078	0.025253	0.010870	0.008772	0.000000	0.025862	0.000000	0.000000	0.07143	2695.44	35	chr4	70644498	.	T	C	2695.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.447;DP=414;ExcessHet=0;FS=0.497;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=1.55;SOR=0.748	GT:AD:DP:GQ:PL	0/1:106,109:215:99:2706,0,2744	6	0	1	0
chr4	112585555	112585555	C	T	exonic	ZGRF1	.	nonsynonymous SNV	ZGRF1:NM_001350397:exon13:c.G3913A:p.E1305K,ZGRF1:NM_018392:exon14:c.G4087A:p.E1363K	.	431	1053	37	1	0	39	0.0181818	.	.	.	609195	Autism_spectrum_disorder|not_specified|Childhood_apraxia_of_speech	MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106|MedGen:CN169374|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.146	.	0.0111	0.0225639	0.0138	0.0209	0.0048	0.0375	0.0017	0.0085	0.0105	0.0300	0.0130011	2010	154602	rs76187047	0.0104	0.0104	0.0097	0.0110	0.0343	0.0102	0.0102	0.0304	0.0289	0.0195	0.0073	0.0122	0.0262	0.0032	0.0343	0.0083	0.0136	0.0278	0.0139	0.0139	0.0134	0.0144	0.0375	0.0134	0.0132	0.0332	0.0315	0.0218	0.0022	0.0111	0.0121	0.0375	0.0024	0.0442	0.0085	0.0142	0.0323	0.028	0.46129	D	0.01	0.65728	D	.	.	.	.	.	.	0.060740	0.22226	N	0.420266	0.994046	0.42141	D	2.255	0.64187	M	1.97	0.22067	T	-1.81	0.42575	N	0.073	0.26596	-1.1432	0.01243	T	0.014	0.05513	T	10	0.0037038028	0.00068	T	.	.	.	0.146	0.38789	.	.	.	.	0.16722565131691164	0.16642	0.390564189156	0.40270	.	.	.	0.019526	0.15543	T	-0.377251	0.03242	T	-0.282537	0.46544	T	0.0607054638258199	0.07279	T	0.935206	0.75689	D	0.16616397	0.36935	0.1621216	0.37675	0.16616397	0.36935	0.14595166	0.34594	-8.973	0.67523	D	.	.	0.532	0.65994	A	.;.	.;.	4.346339	0.66720	25.0	0.99904783146184883	0.97576	0.94849	0.62543	D	AEFBI	0.612136	0.60032	D	0.299453293933426	0.56122	3.776416	0.433071438704808	0.63637	4.601495	0.99999830824836	0.74766	0.732398	0.92422	0	0.601575	0.49859	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.65	5.65	0.86881	5.138000	0.64636	7.592000	0.61280	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.742	0.96232	861	0.33516	Zinc finger, GRF-type;Zinc finger, GRF-type	AC004057.1	Thyroid	.	.	.	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	0.039778	0.060606	0.038043	0.064327	0.000000	0.043103	0.021341	0.026515	0.07143	1204.46	33	chr4	112585555	.	C	T	1204.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.457;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-2.098;SOR=0.728	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1215,0,1230	6	0	1	0
chr4	121843997	121843997	T	C	exonic	BBS7	.	nonsynonymous SNV	BBS7:NM_018190:exon12:c.A1235G:p.D412G,BBS7:NM_176824:exon12:c.A1235G:p.D412G	Bardet-Biedl syndrome 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	519717	Bardet-Biedl_syndrome_7|not_provided|Retinal_dystrophy|Bardet-Biedl_syndrome|BBS7-related_ciliopathy	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984,Orphanet:110|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|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:1040042,MedGen:CN378628	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.781	0.1707333562	0.0017	0.000399361	0.0022	0.0005	0.0014	0	0.0009	0.0039	0.0045	0.0004	0.0013648	211	154602	rs111442398	0.0021	0.0021	0.0021	0.0020	0.0024	0.0020	0.0020	0.0023	0.0023	0.0004	0.0012	0.0050	0	0.0002	0.0004	0.0024	0.0018	0.0004	0.0015	0.0015	0.0016	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0004	0	0.0017	0.0029	0	0.0002	0	0.0024	0.0019	0.0004	0.019	0.50132	D	0.013	0.63109	D	0.917	0.50750	P	0.732	0.55359	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.055	0.86842	M	-1.11	0.77466	T	-5.0	0.82341	D	0.748	0.74735	0.221	0.86269	D	0.526	0.82350	D	10	0.04046455	0.02617	T	0.170733	0.84821	D	0.781	0.92705	.	.	0.949250549416	0.94871	0.6588334589756615	0.65820	0.469089488547	0.46223	0.705648303032	0.67962	T	0.643882	0.89111	D	0.0475979	0.58033	T	0.296548	0.88040	D	0.0315356413692946	0.02231	T	0.939406	0.77188	D	0.64425296	0.75057	0.5870026	0.76046	0.656175	0.75695	0.5773257	0.75509	-10.895	0.80674	D	0.770651034000076	0.85167	0.584	0.68235	P	.;.	.;.	4.220633	0.63840	24.6	0.99808969547964721	0.89264	0.99315	0.94380	D	AEFBI	0.783550	0.71450	D	0.761614880273242	0.83659	8.075693	0.762744587143329	0.87107	9.109026	0.999999265673213	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	6.08	6.08	0.98982	6.186000	0.71955	6.022000	0.52807	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	16.644	0.85012	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	488.53	22	chr4	121843997	.	T	C	488.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.23;DP=183;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.17;SOR=0.859	GT:AD:DP:GQ:PL	0/1:20,19:39:99:499,0,492	6	0	1	0
chr4	186210645	186210645	T	C	UTR3	CYP4V2	NM_207352:c.*4T>C	.	.	Bietti crystalline corneoretinal dystrophy, Autosomal recessive	5	1493	24	0	0	24	0.00797342	.	.	.	177666	Corneal_dystrophy|not_specified|Bietti_crystalline_corneoretinal_dystrophy	Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MedGen:CN169374|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370,Orphanet:41751	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0065	0.00479233	0.0044	0.0055	0.0015	0.0001	0.0011	0.0044	0.0066	0.0095	0.004379	677	154602	rs76978024	0.0050	0.0050	0.0049	0.0052	0.0088	0.0049	0.0049	0.0083	0.0081	0.0063	0.0016	0.0056	7.56e-05	0.0010	0.0057	0.0052	0.0050	0.0088	0.0048	0.0048	0.0051	0.0045	0.0083	0.0045	0.0044	0.0063	0.0056	0.0065	0	0.0019	0.0043	0	0.0008	0.0136	0.0053	0.0033	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	1164.46	33	chr4	186210645	.	T	C	1164.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.08;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=-0.262;SOR=0.8	GT:AD:DP:GQ:PL	0/1:34,43:77:99:1175,0,879	6	0	1	0
chr4	186284272	186284272	G	A	intronic	F11	.	.	.	Factor XI deficiency, autosomal dominant;Factor XI deficiency, autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	891783	Hereditary_factor_XI_deficiency_disease|F11-related_disorder|Plasma_factor_XI_deficiency|not_provided|not_specified	MONDO:MONDO:0012897,MeSH:D005173,MedGen:C0015523,OMIM:612416,Orphanet:329|.|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0041	0.00239617	0.0040	0.0006	0.0016	0.0002	0.0011	0.0051	0.0056	0.0060	0.0032729	506	154602	rs116667976	0.0044	0.0044	0.0043	0.0044	0.0051	0.0043	0.0042	0.0047	0.0047	0.0005	0.0014	0.0055	7.572e-05	0.0010	0.0047	0.0048	0.0046	0.0051	0.0031	0.0031	0.0033	0.0029	0.0062	0.0029	0.0028	0.0045	0.0043	0.0010	0	0.0016	0.0043	0.0002	0.0008	0.0136	0.0050	0.0028	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2222.63	43	chr4	186284272	.	G	A	2222.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.038;DP=334;ExcessHet=0;FS=1.52;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=1.72;SOR=0.517	GT:AD:DP:GQ:PL	0/1:47,87:134:99:2233,0,1075	6	0	1	0
chr5	236534	236534	C	T	exonic	SDHA	.	nonsynonymous SNV	SDHA:NM_001294332:exon9:c.C1223T:p.S408L,SDHA:NM_001330758:exon10:c.C1367T:p.S456L,SDHA:NM_004168:exon10:c.C1367T:p.S456L	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	0	1356	166	0	0	166	0.0576789	.	.	YES	521527	not_provided|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Paragangliomas_5|Hereditary_cancer-predisposing_syndrome	MedGen:C3661900|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.824	.	.	.	0.0207	0.0207	0.0089	0.0181	0.0145	0.0202	0.0261	0.0347	5.17e-05	8	154602	rs76896145	0.0003	0.0207	0.0003	0.0004	0.0019	0.0003	0.0003	0.0010	0.0008	0.0002	2.272e-05	3.933e-05	2.54e-05	0.0005	0.0019	0.0004	0.0003	0.0005	1.314e-05	0.0004	1.286e-05	1.344e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	9.416e-05	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000231	0.47286	U	0.146175	1	0.81001	D	5.245	0.99966	H	-0.8	0.73845	T	-5.5	0.85844	D	0.636	0.64903	-0.4279	0.71134	T	0.038	0.16462	T	10	0.021521896	0.00516	T	.	.	.	0.824	0.94390	.	.	.	.	0.9612936845788073	0.96115	1.30130239228	0.83020	0.84791135788	0.89299	D	0.663362	0.90174	D	0.404082	0.90147	D	0.34266	0.90024	D	0.996323704719543	0.89114	D	0.907009	0.67171	D	0.92644167	0.93881	0.9093043	0.95639	0.97659326	0.98840	0.9279344	0.96952	-13.673	0.91945	D	0.9292556587934766	0.97085	0.998	0.98268	P	.;.;.;.	.;.;.;.	4.781782	0.77512	26.7	0.99900343983699358	0.97199	0.97954	0.78397	D	AEFGBI	0.939419	0.93998	D	0.929847297116785	0.93144	11.84873	0.74746776699684	0.85967	8.741357	0.99999998878309	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.01	5.01	0.66477	7.585000	0.81876	7.620000	0.62269	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.021000	0.11733	0.0:1.0:0.0:0.0	16.16	0.81512	840	0.37365	FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.020208	0.071429	0.008219	0.043103	0.125000	0.017857	0.024648	0.016260	0.07143	176.44	36	chr5	236534	.	C	T	176.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.902;DP=379;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.89;MQRankSum=-12.5;QD=1;ReadPosRankSum=3.13;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,16:177:99:0|1:236534_C_T:187,0,6630:236534	6	0	1	0
chr5	13886136	13886138	AAA	-	intronic	DNAH5	.	.	.	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	.	295553	Primary_ciliary_dyskinesia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1980	0.1530	0.2345	0.0616	0.3012	0.2362	0.2935	0.0933	0.0001229	19	154602	rs201639682	0.2197	0.2090	0.2202	0.2191	0.2636	0.2189	0.2187	0.2584	0.2562	0.1733	0.2636	0.2290	0.0664	0.2132	0.2468	0.2261	0.2174	0.2025	0.2129	0.2043	0.2115	0.2145	0.2821	0.2108	0.2099	0.2742	0.2710	0.1491	0.2864	0.2821	0.2820	0.0620	0.2497	0.2924	0.2356	0.2207	0.2146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2135.94	8	chr5	13886135	.	CAAA	C	2135.94	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.526;DP=164;ExcessHet=0.7136;FS=1.337;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=30.08;ReadPosRankSum=0.992;SOR=1.099	GT:AD:DP:GQ:PL	1/0:0,11:20:49:560,49,127	3	0	3	1
chr5	38528850	38528851	AC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303937	not_provided|Stuve-Wiedemann_syndrome|Stüve-Wiedemann_syndrome_1	MedGen:C3661900|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MONDO:MONDO:0800043,MedGen:C5676888,OMIM:601559,Orphanet:3206	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3454	0.2017	0.3103	0.2720	0.2788	0.3796	0.3684	0.3566	0.0001423	22	154602	rs34759137	0.2992	0.3291	0.2912	0.3066	0.3471	0.2982	0.2977	0.3382	0.3366	0.1605	0.2828	0.4123	0.2437	0.3501	0.3471	0.2931	0.3145	0.3421	0.3263	0.3064	0.3244	0.3283	0.4408	0.3237	0.3227	0.4237	0.4168	0.1328	0.3872	0.3252	0.5692	0.3125	0.3579	0.4286	0.4208	0.3804	0.4408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1427.23	10	chr5	38528849	.	GAC	G	1427.23	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0;DP=179;ExcessHet=2.3007;FS=1.653;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0;SOR=0.49	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,12:34:99:.:.:363,0,582:.	1	1	4	1
chr5	112838187	112838187	C	T	exonic	APC	.	nonsynonymous SNV	APC:NM_001127511:exon14:c.C2539T:p.P847S,APC:NM_001354897:exon15:c.C2623T:p.P875S,APC:NM_001354899:exon15:c.C2509T:p.P837S,APC:NM_001354901:exon15:c.C2416T:p.P806S,APC:NM_001354902:exon15:c.C2320T:p.P774S,APC:NM_001354905:exon15:c.C2113T:p.P705S,APC:NM_000038:exon16:c.C2593T:p.P865S,APC:NM_001354895:exon16:c.C2593T:p.P865S,APC:NM_001354898:exon16:c.C2518T:p.P840S,APC:NM_001354900:exon16:c.C2470T:p.P824S,APC:NM_001354903:exon16:c.C2290T:p.P764S,APC:NM_001354904:exon16:c.C2215T:p.P739S,APC:NM_001127510:exon17:c.C2593T:p.P865S,APC:NM_001354896:exon17:c.C2647T:p.P883S,APC:NM_001354906:exon17:c.C1744T:p.P582S	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	0	1516	6	0	0	6	0.00197498	.	.	.	139402	Familial_adenomatous_polyposis_1|Hereditary_cancer-predisposing_syndrome|Gardner_syndrome|APC-related_attenuated_familial_adenomatous_polyposis|APC-Associated_Polyposis_Disorders|Hereditary_cancer|not_provided|Familial_multiple_polyposis_syndrome|not_specified	MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019336,MedGen:C0017097,Orphanet:79665|MONDO:MONDO:0016613,MedGen:C5679615,Orphanet:247806|MedGen:CN239210|MedGen:C1333600|MedGen:C3661900|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100,Orphanet:733|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	0.0229687603216	0.0002	0.000798722	9.066e-05	9.638e-05	0.0002	0	0	0.0001	0	6.056e-05	9.7e-05	15	154602	rs192620988	7.525e-05	7.524e-05	8.031e-05	7.013e-05	0.0012	6.382e-05	5.938e-05	0.0006	0.0004	0.0006	0.0001	0.0005	0	0	0.0012	3.777e-05	0.0003	5.797e-05	0.0003	0.0003	0.0003	0.0002	0.0014	0.0002	0.0002	0.0009	0.0008	0.0002	0	0.0014	0.0012	0	0	0	8.821e-05	0.0009	0	0.405	0.14546	T	0.21	0.26714	T	0.0	0.02946	B	0.0	0.01387	B	0.003595	0.34740	N	0.291828	0.718074	0.33588	D	0.835	0.21042	L	-3.17	0.93054	D	-0.36	0.13035	N	0.067	0.03956	-0.2388	0.76657	T	0.584	0.85052	D	10	0.014352292	0.00302	T	0.022969	0.45902	T	0.108	0.30607	.	.	0.769083392219	0.76697	0.4007883173594383	0.39993	.	.	0.320167243481	0.13447	T	0.546892	0.84587	D	-0.168061	0.25528	T	-0.297657	0.44971	T	0.0125627359375358	0.00209	T	0.817118	0.47377	T	0.02953094	0.02463	0.04369399	0.05494	0.02953094	0.02463	0.04369399	0.05494	-2.215	0.04113	T	0.13638163916491733	0.14909	0.069	0.04477	B	.;.;.;.	.;.;.;.	1.092582	0.14763	11.31	0.93426792615462828	0.23198	0.54649	0.29668	D	AEFBI	0.095876	0.19364	N	-0.446806493316638	0.23849	1.283597	-0.292841090058392	0.28333	1.579038	0.00606068371514078	0.11116	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.92	3.11	0.34883	0.653000	0.24588	0.021000	0.13590	0.599000	0.40250	0.382000	0.26022	0.005000	0.19230	0.998000	0.85391	0.1314:0.5981:0.0:0.2706	5.360	0.15387	611	0.66908	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.000000	0.07143	1805.63	37	chr5	112838187	.	C	T	1805.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.387;DP=409;ExcessHet=0;FS=4.96;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.518;SOR=0.973	GT:AD:DP:GQ:PL	0/1:72,70:142:99:1816,0,1985	6	0	1	0
chr5	162067985	162067985	A	-	UTR5	GABRG2	NM_001375350:c.-29746del-;NM_001375349:c.-27536del-;NM_001375348:c.-29746del-;NM_001375344:c.-15del-;NM_001375343:c.-15del-;NM_001375342:c.-15del-;NM_001375341:c.-15del-;NM_001375339:c.-15del-;NM_001375340:c.-15del-;NM_198903:c.-15del-;NM_000816:c.-15del-;NM_198904:c.-15del-	.	.	Epilepsy, generalized, with febrile seizures plus, type 3, Autosomal dominant;Febrile seizures, familial, 8, Autosomal dominant	0	202	24	0	0	24	0.0560748	.	.	.	298652	Generalized_epilepsy_with_febrile_seizures_plus|Severe_myoclonic_epilepsy_in_infancy|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0018214,MedGen:C3502809,OMIM:PS604233,Orphanet:36387|MONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208,Orphanet:33069|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3833	0.3806	0.3791	0.3908	0.3132	0.3857	0.3465	0.4014	0.0016136	42	26028	rs780201998	0.1348	0.2306	0.1338	0.1359	0.1919	0.1341	0.1338	0.1867	0.1846	0.1767	0.1919	0.1747	0.1841	0.1705	0.0991	0.1276	0.1490	0.1353	0.0088	0.0103	0.0091	0.0085	0.0280	0.0084	0.0082	0.0266	0.0261	0.0280	0	0.0043	0.0006	0.0002	0.0038	0	0.0008	0.0057	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	86.59	41	chr5	162067984	.	GA	G	86.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.494;DP=323;ExcessHet=0;FS=0.982;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=-0.892;SOR=0.892	GT:AD:DP:GQ:PL	0/1:110,17:129:97:97,0,2537	6	0	1	0
chr6	6174633	6174633	G	A	exonic	F13A1	.	nonsynonymous SNV	F13A1:NM_000129:exon12:c.C1694T:p.P565L	Factor XIIIA deficiency, Autosomal recessive	4	868	532	118	0	768	0.306709	.	.	.	252448	not_provided|Factor_XIII,_A_subunit,_deficiency_of|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0040233,MONDO:MONDO:0013187,MedGen:C2750514,OMIM:613225,Orphanet:331|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	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	0.245217	0.247475	0.213315	0.292398	0.200000	0.250000	0.216463	0.261364	0.1429	3401.26	36	chr6	6174633	.	G	A	3401.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.67;DP=522;ExcessHet=0.3476;FS=1.312;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.629;SOR=0.788	GT:AD:DP:GQ:PL	0/1:109,80:189:99:1898,0,2500	5	0	2	0
chr6	7585734	7585734	G	C	exonic	DSP	.	synonymous SNV	DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G	Arrhythmogenic right ventricular dysplasia 8, Autosomal dominant;Cardiomyopathy, dilated, with woolly hair and keratoderma, Autosomal recessive;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, Autosomal dominant;Epidermolysis bullosa, lethal acantholytic, Autosomal recessive;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome, Autosomal recessive	5	101	508	907	1	2323	0.919968	.	.	.	54134	Woolly_hair-skin_fragility_syndrome|not_provided|DSP-related_disorder|Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiomyopathy|not_specified|Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis|Cardiovascular_phenotype|Lethal_acantholytic_epidermolysis_bullosa|Keratosis_palmoplantaris_striata_2	MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MedGen:C3661900|.|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676,Orphanet:65282|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821,Orphanet:476096,Orphanet:65282|MedGen:CN230736|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6881	0.709465	0.7117	0.6397	0.7338	0.8066	0.6397	0.7101	0.6850	0.7272	0.139468	21562	154602	rs2744380	0.7026	0.7025	0.7013	0.7039	0.8141	0.7014	0.7009	0.8067	0.8036	0.6292	0.7523	0.7458	0.8141	0.6463	0.7567	0.6983	0.7106	0.7218	0.6908	0.6909	0.6880	0.6938	0.7964	0.6873	0.6859	0.7760	0.7677	0.6384	0.6941	0.7554	0.7524	0.7964	0.6493	0.7993	0.7001	0.7079	0.7252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.767875	0.792929	0.766304	0.698830	0.800000	0.810345	0.829268	0.704545	0.8571	44484.1	201	chr6	7585734	.	G	C	44484.1	.	AC=12;AF=0.857;AN=14;BaseQRankSum=4.13;DP=1788;ExcessHet=0.3476;FS=1.421;MLEAC=12;MLEAF=0.857;MQ=60;MQRankSum=0;QD=25.65;ReadPosRankSum=1.19;SOR=0.851	GT:AD:DP:GQ:PL	0/1:186,163:349:99:4425,0,4688	0	5	2	0
chr6	26090951	26090951	C	G	exonic	HFE	.	nonsynonymous SNV	HFE:NM_000410:exon2:c.C187G:p.H63D,HFE:NM_001300749:exon2:c.C187G:p.H63D,HFE:NM_001384164:exon2:c.C187G:p.H63D,HFE:NM_139003:exon2:c.C187G:p.H63D,HFE:NM_139004:exon2:c.C187G:p.H63D,HFE:NM_139006:exon2:c.C187G:p.H63D,HFE:NM_139009:exon2:c.C118G:p.H40D	Hemochromatosis, Autosomal recessive	2	1194	302	24	0	350	0.127831	.	.	YES	15049	Familial_porphyria_cutanea_tarda|Hemochromatosis_type_1|TRANSFERRIN_SERUM_LEVEL_QUANTITATIVE_TRAIT_LOCUS_2|Variegate_porphyria|Microvascular_complications_of_diabetes,_susceptibility_to,_7|Alzheimer_disease|See_cases|Cystic_fibrosis|not_provided|Cardiomyopathy|Bronze_diabetes|Hereditary_hemochromatosis|not_specified	MONDO:MONDO:0008296,MedGen:C0268323,OMIM:176100,Orphanet:101330,Orphanet:443062|MONDO:MONDO:0021001,MedGen:C3469186,OMIM:235200,Orphanet:139498,Orphanet:465508|MedGen:C3280096,OMIM:614193|MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473|MONDO:MONDO:0012971,MedGen:C2673520,OMIM:612635|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:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C0018995|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.315	.	0.1107	0.0730831	0.1066	0.0290	0.0959	0.0365	0.1031	0.1368	0.1300	0.0779	0.109171	16878	154602	rs1799945	0.1351	0.1352	0.1361	0.1341	0.1501	0.1346	0.1344	0.1495	0.1493	0.0276	0.1031	0.1163	0.0312	0.1058	0.1222	0.1501	0.1248	0.0795	0.1015	0.1017	0.1038	0.0991	0.1503	0.1002	0.0996	0.1479	0.1469	0.0296	0.0724	0.1099	0.1208	0.0269	0.0959	0.1054	0.1503	0.1297	0.0773	0.016	0.51853	D	0.146	0.40426	T	0.147	0.64070	B	0.083	0.62698	B	0.346540	0.13882	N	0.680049	1	0.08975	P	1.79	0.46772	L	-2.42	0.88611	D	-1.23	0.45769	N	0.299	0.37301	0.103	0.84222	D	0.631	0.87050	D	9	0.0015847087	0.00018	T	.	.	.	0.315	0.63694	.	.	.	.	0.9919645876196251	0.99192	0.986908435057	0.73940	0.511884570122	0.40485	T	0.131905	0.46168	T	-0.287491	0.09890	T	-0.0676057	0.65796	T	0.012003537063212	0.00189	T	0.564244	0.19889	T	0.44828805	0.63933	0.3678599	0.62087	0.5796515	0.71590	0.30211145	0.56242	-3.758	0.33991	T	0.5987737628714522	0.66574	0.333	0.67715	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.087160	0.41550	21.4	0.98505846847621126	0.42276	0.07898	0.13886	N	AEFDBI	0.078262	0.15787	N	-0.213524220581138	0.32577	1.838779	-0.257839665235987	0.29501	1.653376	0.989988003865806	0.31999	0.623552	0.39893	0	0.588066	0.40923	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	5.3	3.51	0.39297	1.868000	0.39146	3.701000	0.39526	0.599000	0.40250	0.744000	0.29069	1.000000	0.68203	0.993000	0.69303	0.175:0.7358:0.0:0.0892	6.685	0.22327	500	0.76024	.;.;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;.;.;MHC class I-like antigen recognition-like	U91328.19|HFE|BTN2A3P|SLC17A1|SLC17A3|GUSBP2|HFE|HFE|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HIST1H3E|HFE|HFE|HIST1H3E|HFE|HFE|HIST1H3E|SLC17A3|HFE|RP11-457M11.5|HIST1H3E|HFE|HIST1H3E|HFE|HFE|HFE|HFE|HFE|HIST1H3E|TRIM38|HFE|HIST1H3E|HIST1H3E	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adrenal_Gland|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Frontal_Cortex_BA9|Brain_Hypothalamus|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Stomach|Testis|Testis|Thyroid|Thyroid|Uterus|Whole_Blood	HFE	Cells_Cultured_fibroblasts	rs1799945	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.119839	0.181818	0.100543	0.166667	0.000000	0.155172	0.121951	0.079545	0.2143	4577.76	94	chr6	26090951	.	C	G	4577.76	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.938;DP=498;ExcessHet=1.1394;FS=1.209;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.866;SOR=0.717	GT:AD:DP:GQ:PL	0/1:70,81:151:99:2024,0,1734	4	0	3	0
chr6	32039081	32039081	C	A	UTR5	CYP21A2	NM_001368143:c.-126C>A;NM_001368144:c.-126C>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	9	182	648	678	5	2009	0.846284	.	.	YES	193439	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	0.6293	0.650759	0.7060	0.7281	0.7932	0.7161	0.6224	0.7014	0.6834	0.6705	0.588071	90917	154602	rs6467	0.5950	0.5925	0.5939	0.5962	0.7333	0.5940	0.5935	0.7265	0.7237	0.6439	0.7333	0.6468	0.6576	0.4707	0.6835	0.5882	0.6013	0.6165	0.6088	0.6089	0.6127	0.6048	0.7113	0.6055	0.6042	0.7001	0.6955	0.6364	0.6394	0.7113	0.6359	0.6316	0.4363	0.6130	0.5918	0.6460	0.5973	0.313	0.13879	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-0.3	0.67874	T	0.4	0.03463	N	.	.	-1.0318	0.19873	T	0.093	0.35444	T	5	1.7294652e-06	0.00003	T	.	.	.	0.034	0.08419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.636234	0.00088	T	-0.542863	0.18016	T	0.00180369962629931	0.00018	T	0.226077	0.02982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05535	B	.	.	0.164705	0.05545	2.006	0.43740471587862012	0.03314	0.00179	0.01050	N	AEFBI	0.087333	0.17709	N	-1.19446011224149	0.05083	0.2309094	-1.36986281538789	0.03577	0.1671443	1.13245368839307E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	3.06	-0.591	0.11090	-0.233000	0.09056	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1987:0.5349:0.1383:0.1281	3.239	0.06373	923	0.18507	.	TCF19|C4A|CYP21A2|HLA-DRB9|HLA-DRB5|C4A|CYP21A1P|TNXA|HLA-DRB5|TNXA|CFB|MICB|C6orf48|CFB|C4A|CYP21A1P|HLA-DRB5|MICB|C4A|C4A|HLA-DRB9|HLA-DRB5|HLA-DOB|HLA-DMB|MICB|DDAH2|C4A|C4B|PSMB9|HLA-DRB5|HLA-DRB5|C4A|HLA-DRB5|PSORS1C1|MICB|LY6G6C|C4A|HLA-DRB5|C4A|C4A|HLA-DRB5|HLA-DRB5|MICB|TNXA|HLA-DRB5|MICB|C4A|HLA-DRB5|C4A|CYP21A1P|HLA-DRB5|C4A|TNXA|CYP21A2|HLA-DRB5|C6orf48|C4A|C4B|HLA-DRB5|MICB|MSH5|C6orf48|C4A|C4B|HLA-DRB5|C4A|TNXA|TAP1|HCG22|MICB|C4A|CYP21A1P|HLA-DRB9|HLA-DRB5|HLA-DMA|C4A|C4A|C4B|HLA-DRB5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	DXO|HLA-DRB5|HLA-DRB6|HLA-DRB1|VARS|VARS|C6orf15|CDSN|DXO|HLA-DQA1|DXO|CYP21A1P|CYP21A2	Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Cerebellum|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis	rs6467	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.8571	9493.28	43	chr6	32039081	.	C	A	9493.28	.	AC=12;AF=0.857;AN=14;BaseQRankSum=1.55;DP=364;ExcessHet=0.3476;FS=1.313;MLEAC=12;MLEAF=0.857;MQ=59.97;MQRankSum=0;QD=26.44;ReadPosRankSum=1.21;SOR=0.552	GT:AD:DP:GQ:PL	0/1:29,27:56:99:653,0,720	0	5	2	0
chr6	32041146	32041146	C	T	UTR3	CYP21A2	NM_000500:c.*12C>T;NM_001128590:c.*12C>T;NM_001368143:c.*12C>T;NM_001368144:c.*12C>T	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	16	1383	122	1	0	124	0.0429066	.	.	YES	576925	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0063	0.00978435	0.0125	0.0101	0.0103	0.0017	0.0021	0.0118	0.0190	0.0256	0.0092884	1436	154602	rs150697472	0.0099	0.0101	0.0093	0.0104	0.0654	0.0097	0.0097	0.0591	0.0567	0.0077	0.0099	0.0216	0.0010	0.0010	0.0654	0.0090	0.0130	0.0223	0.0090	0.0091	0.0089	0.0092	0.0160	0.0086	0.0085	0.0132	0.0121	0.0084	0	0.0124	0.0219	0.0023	0.0007	0.0782	0.0088	0.0229	0.0160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	662.24	25	chr6	32041146	.	C	T	662.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.43;DP=241;ExcessHet=0.3476;FS=0.93;MLEAC=2;MLEAF=0.143;MQ=57.59;MQRankSum=1.65;QD=9.74;ReadPosRankSum=0.524;SOR=0.512	GT:AD:DP:GQ:PL	0/1:35,28:63:99:643,0,689	5	0	2	0
chr6	42963890	42963893	TTTA	-	UTR3	PEX6	NM_001316313:c.*445_*442delTAAA;NM_000287:c.*445_*442delTAAA	.	.	Heimler syndrome 2, Autosomal recessive;Peroxisome biogenesis disorder 4A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 4B, Autosomal recessive	639	398	139	346	0	831	0.510756	.	.	.	300174	not_provided|PEX6_POLYMORPHISM|not_specified|Peroxisome_biogenesis_disorder_1A_(Zellweger)	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.647364	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs144286892	0.5727	0.5907	0.5681	0.5768	0.9184	0.5710	0.5703	0.9056	0.9003	0.9184	0.5473	0.5051	0.3599	0.5005	0.6168	0.5761	0.5928	0.6450	0.6587	0.6629	0.6658	0.6513	0.9162	0.6553	0.6538	0.9083	0.9051	0.9162	0.6826	0.5830	0.5087	0.3234	0.5061	0.5810	0.5796	0.6463	0.6385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	360.14	12	chr6	42963889	.	GTTTA	G	360.14	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.967;DP=35;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=30.43;ReadPosRankSum=0.21;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	3	2	1	1
chr6	45941619	45941619	T	C	exonic	CLIC5	.	nonsynonymous SNV	CLIC5:NM_001114086:exon4:c.A811G:p.N271D,CLIC5:NM_001256023:exon4:c.A334G:p.N112D,CLIC5:NM_001370649:exon4:c.A217G:p.N73D,CLIC5:NM_016929:exon4:c.A334G:p.N112D,CLIC5:NM_001370650:exon5:c.A811G:p.N271D	.	431	1086	5	0	0	5	0.00229674	.	.	.	539001	not_provided|CLIC5-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_103	MedGen:C3661900|.|MONDO:MONDO:0014469,MedGen:C4015050,OMIM:616042,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.575	0.277535312664	.	0.00159744	0.0008	0	0.0003	0	0	0.0001	0	0.0049	0.0006533	101	154602	rs564438778	0.0004	0.0004	0.0002	0.0005	0.0051	0.0004	0.0004	0.0047	0.0045	2.987e-05	4.472e-05	0	0	0	0.0014	9.083e-05	0.0003	0.0051	0.0002	0.0002	0.0003	0.0002	0.0050	0.0002	0.0002	0.0034	0.0029	0	0	6.538e-05	0	0	0	0	0.0002	0	0.0050	0.041	0.41915	D	0.041	0.50514	D	0.076	0.24253	B	0.054	0.25828	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	-3.22	0.93352	D	-4.58	0.78807	D	0.865	0.91162	0.415	0.89329	D	0.713	0.90148	D	10	0.01323691	0.00282	T	0.277535	0.90111	D	0.575	0.82799	.	.	0.966479415667	0.96611	0.908536658755391	0.90826	0.298502774148	0.32228	0.668010175228	0.62554	T	0.360909	0.72708	T	-0.164171	0.26120	T	-0.00764334	0.69838	D	0.14394016691814	0.16610	T	0.909209	0.68064	D	0.83107215	0.85977	0.68651754	0.81565	0.83107215	0.85978	0.68651754	0.81566	-10.971	0.81038	D	0.6682814794046622	0.74284	0.638	0.76805	P	.;.;.;.;.	.;.;.;.;.	4.086413	0.60831	24.3	0.99576763852848771	0.72742	0.97579	0.75677	D	AEFBI	0.961051	0.98212	D	0.175674627797205	0.50034	3.197329	0.284225795363938	0.54617	3.62626	0.999991418476479	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.44	5.44	0.79348	6.208000	0.72099	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	14.491	0.67230	867	0.32089	.;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001521	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	615.27	32	chr6	45941619	.	T	C	615.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=266;ExcessHet=0;FS=1.824;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=-1.364;SOR=0.507	GT:AD:DP:GQ:PL	0/1:56,30:86:99:625,0,1261	5	0	1	1
chr6	49444686	49444686	G	A	exonic	MMUT	.	synonymous SNV	MMUT:NM_000255:exon9:c.C1629T:p.S543S	.	0	1482	38	2	0	42	0.0139721	.	.	YES	98589	Methylmalonic_aciduria_due_to_complete_methylmalonyl-CoA_mutase_deficiency|not_specified|Methylmalonic_aciduria_due_to_methylmalonyl-CoA_mutase_deficiency|not_provided	.|MedGen:CN169374|MONDO:MONDO:0009612,MedGen:C1855114,OMIM:251000,Orphanet:27|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0043	0.00359425	0.0049	0.0011	0.0029	0	0.0008	0.0069	0.0066	0.0044	0.0048576	751	154602	rs150642856	0.0065	0.0065	0.0064	0.0065	0.0203	0.0064	0.0063	0.0173	0.0162	0.0010	0.0036	0.0079	2.52e-05	0.0008	0.0203	0.0073	0.0064	0.0043	0.0048	0.0048	0.0050	0.0046	0.0079	0.0045	0.0044	0.0073	0.0071	0.0011	0.0022	0.0043	0.0075	0	0.0008	0.0272	0.0079	0.0080	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.012601	0.010101	0.009511	0.008772	0.050000	0.008621	0.018405	0.022727	0.1429	1885.65	36	chr6	49444686	.	G	A	1885.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.912;DP=357;ExcessHet=0.3476;FS=2.388;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.079;SOR=0.549	GT:AD:DP:GQ:PL	0/1:67,48:115:99:1064,0,1495	5	0	2	0
chr6	131847857	131847860	GTGT	-	intronic	ENPP1	.	.	.	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	64	102	8	11	41	71	0.128205	.	.	.	306033	not_provided|Hypophosphatemic_Rickets,_Recessive|Arterial_calcification,_generalized,_of_infancy,_1|not_specified	MedGen:C3661900|MedGen:CN239452|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MedGen:CN169374	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1283.19	22	chr6	131847856	.	GGTGT	G	1283.19	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.649;DP=151;ExcessHet=0.1336;FS=10.393;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.78;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,6:20:99:0|1:131847856_GGTGT_G:185,0,416:131847856	5	0	1	1
chr6	131851228	131851228	A	C	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon4:c.A517C:p.K173Q	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	2	993	455	72	0	599	0.231721	.	.	YES	28628	Obesity|Hypopigmentation-punctate_palmoplantar_keratoderma_syndrome|Insulin_resistance,_susceptibility_to|Type_2_diabetes_mellitus|not_provided|Hypophosphatemic_rickets|Diabetes_mellitus_type_2,_susceptibility_to|Hypophosphatemic_rickets,_autosomal_recessive,_2|Arterial_calcification,_generalized,_of_infancy,_1|Inherited_obesity|ENPP1-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529|MONDO:MONDO:0014227,MedGen:C3809781,OMIM:615522,Orphanet:324561|MedGen:C1852091|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|Human_Phenotype_Ontology:HP:0004912,MONDO:MONDO:0024300,MeSH:D063730,MedGen:C1704375|MedGen:C3837967|MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.055	.	0.3502	0.342252	0.2063	0.7833	0.1748	0.0993	0.1346	0.1522	0.1751	0.1698	0.0048025	125	26028	rs1044498	0.1615	0.1616	0.1636	0.1594	0.7978	0.1610	0.1608	0.7898	0.7865	0.7978	0.1927	0.2216	0.0933	0.1280	0.2302	0.1406	0.1991	0.1710	0.3286	0.3290	0.3348	0.3222	0.7756	0.3262	0.3252	0.7685	0.7655	0.7756	0.3158	0.2446	0.2323	0.0942	0.1217	0.2347	0.1422	0.2955	0.1774	0.315	0.13789	T	0.379	0.16037	T	0.072	0.23997	B	0.068	0.27651	B	0.587550	0.11081	N	0.811774	1	0.08975	P	1.81	0.47622	L	0.95	0.43279	T	-1.57	0.37955	N	0.031	0.00770	-1.0817	0.07022	T	0.051	0.21689	T	9	9.3244637e-07	0.00003	T	.	.	.	0.055	0.15663	.	.	.	.	0.5922575994283148	0.59155	0.222986614552	0.24826	0.243391931057	0.03104	T	0.403814	0.76046	T	-0.729824	0.00024	T	-0.677298	0.07149	T	0.0158636155010768	0.00372	T	0.369163	0.08660	T	0.08555309	0.19849	0.05395216	0.09186	0.0991331	0.23392	0.07375446	0.16063	-3.387	0.14882	T	0.2569421100413521	0.34729	0.068	0.02927	B	.;.	.;.	1.664263	0.21222	15.10	0.93115564684636221	0.22749	0.05113	0.10917	N	AEFBIJ	0.105389	0.21059	N	-0.736100686356782	0.15014	0.7529111	-0.6970689374069	0.17033	0.9038945	0.375294786666874	0.19909	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.55	3.39	0.37919	1.445000	0.34690	2.351000	0.32314	-0.234000	0.07639	0.003000	0.16062	0.006000	0.19429	0.928000	0.46473	0.8272:0.1728:0.0:0.0	14.335	0.66145	833	0.38804	Somatomedin B domain|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain	ENPP1	Pancreas	.	.	rs1044498	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	0.261833	0.328283	0.322011	0.283626	0.300000	0.181034	0.176829	0.151515	0.2857	4355.83	56	chr6	131851228	.	A	C	4355.83	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.735;DP=367;ExcessHet=0.0921;FS=0.997;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=2.71;SOR=0.613	GT:AD:DP:GQ:PL	0/1:59,61:120:99:1447,0,1340	4	1	2	0
chr6	131884939	131884939	C	T	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon23:c.C2320T:p.R774C	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	1	1427	92	2	0	96	0.0325424	.	.	.	28625	Type_2_diabetes_mellitus|not_provided|Arterial_calcification,_generalized,_of_infancy,_1|Hypophosphatemic_rickets,_autosomal_recessive,_2|not_specified	Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MONDO:MONDO:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.258	.	0.0264	0.01877	0.0332	0.0050	0.0124	0.0002	0.0945	0.0381	0.0242	0.0391	0.0316231	4889	154602	rs28933977	0.0344	0.0346	0.0340	0.0349	0.0402	0.0342	0.0341	0.0391	0.0386	0.0046	0.0119	0.0134	0.0002	0.0971	0.0248	0.0347	0.0319	0.0402	0.0282	0.0282	0.0263	0.0302	0.0366	0.0275	0.0272	0.0354	0.0349	0.0056	0.0987	0.0147	0.0107	0.0006	0.0925	0.0204	0.0366	0.0308	0.0355	0.008	0.58626	D	0.025	0.56192	D	0.967	0.56408	D	0.806	0.58437	P	0.656614	0.10464	N	0.848594	0.970586	0.38809	D	1.245	0.31408	L	-0.28	0.67543	T	-1.73	0.41046	N	0.136	0.13341	-0.8367	0.52865	T	0.188	0.53856	T	10	0.0044817626	0.00092	T	.	.	.	0.258	0.56959	.	.	.	.	0.5527615564937547	0.55202	0.747786030408	0.63611	0.211476936936	0.00876	T	0.407119	0.76282	T	-0.384824	0.02904	T	-0.28682	0.46103	T	0.0378080786344718	0.03299	T	0.79742	0.44137	T	0.07002272	0.15388	0.07948223	0.17896	0.09690692	0.22835	0.06881932	0.14420	-11.218	0.80840	D	0.27200696408221064	0.36577	0.106	0.19559	B	.;.	.;.	4.199890	0.63365	24.6	0.99856038771613742	0.93458	0.66565	0.33123	D	AEFBI	0.296067	0.40601	N	0.0265946949372309	0.43065	2.60698	0.0178614397178848	0.40544	2.421388	0.0269375635423906	0.13743	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.91	2.8	0.31881	1.822000	0.38690	0.025000	0.13648	-0.218000	0.08083	0.917000	0.31872	0.001000	0.17328	0.982000	0.59238	0.3654:0.4143:0.2203:0.0	7.410	0.26184	824	0.40336	DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease;DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease	RPS12	Esophagus_Gastroesophageal_Junction	.	.	.	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	0.029708	0.020202	0.017663	0.014620	0.050000	0.051724	0.051829	0.041667	0.1429	2112.44	35	chr6	131884939	.	C	T	2112.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.683;DP=318;ExcessHet=0.3476;FS=0.571;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.069;SOR=0.771	GT:AD:DP:GQ:PL	0/1:47,53:100:99:1246,0,1120	5	0	2	0
chr6	156779017	156779017	C	T	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001374820:exon1:c.C1337T:p.A446V,ARID1B:NM_001374828:exon1:c.C1337T:p.A446V,ARID1B:NM_017519:exon1:c.C1337T:p.A446V,ARID1B:NM_001371656:exon2:c.C1337T:p.A446V	Coffin-Siris syndrome 1, Autosomal dominant	22	1482	18	0	0	18	0.00603622	.	.	.	579255	ARID1B-related_disorder|Inborn_genetic_diseases|Coffin-Siris_syndrome_1|not_provided	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.027	0.3450304029	.	.	0	.	.	.	0	.	.	0	3.84e-05	1	26028	rs748273011	0.0004	0.0005	0.0003	0.0005	0.0112	0.0003	0.0003	0.0101	0.0096	0	0.0001	0.0009	3.871e-05	0	0.0043	7.964e-05	0.0006	0.0112	0.0003	0.0003	0.0002	0.0005	0.0068	0.0002	0.0002	0.0049	0.0043	2.549e-05	0	0	0.0012	0	0	0.0083	9.18e-05	0	0.0068	0.0	0.91255	D	0.057	0.46406	T	0.088	0.27649	B	0.003	0.12992	B	.	.	.	.	0.99007	0.24217	N	0	0.06538	N	4.79	0.01539	T	-0.71	0.20145	N	0.11	0.09631	-1.0240	0.22410	T	0.093	0.35498	T	9	0.014846742	0.00312	T	0.34503	0.92118	D	0.027	0.05988	.	.	0.082315109003	0.07666	0.11740363229762577	0.11668	0.291776440169	0.31589	0.841277122498	0.88289	D	0.017492	0.14263	T	-0.221584	0.17779	T	-0.556066	0.16749	T	0.326483676644333	0.26082	T	0.422258	0.12306	T	0.2873827	0.51749	0.44129464	0.67418	0.33354372	0.55760	0.51041013	0.71708	-5.743	0.44074	T	.	.	0.175	0.42259	B	.;.;.;.	.;.;.;.	3.898311	0.56773	23.8	0.91648444414214014	0.20937	0.14825	0.18604	N	AEFDBHCIJ	0.165601	0.29212	N	-0.710792866598018	0.15718	0.7945733	-0.649195058881883	0.18237	0.9733503	0.999999999706503	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	1.35	1.35	0.21078	2.329000	0.43535	6.423000	0.55618	0.345000	0.19837	0.980000	0.35271	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	9.660	0.39114	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002688	0.000000	0.000000	0.000000	0.000000	0.000000	0.006494	0.015152	0.08333	296.27	13	chr6	156779017	.	C	T	296.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.21;DP=115;ExcessHet=0;FS=1.657;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=1.37;SOR=0.313	GT:AD:DP:GQ:PL	0/1:14,12:26:99:306,0,352	5	0	1	1
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A,SOD2:NM_001322814:exon2:c.T47C:p.V16A,SOD2:NM_001322815:exon2:c.T47C:p.V16A,SOD2:NM_001322816:exon2:c.T47C:p.V16A	.	426	313	516	267	0	1050	0.626492	.	.	.	29790	SOD2_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	.	.	.	.	.	.	.	.	0.048	.	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	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.440524	0.429293	0.388587	0.514620	0.650000	0.439655	0.429448	0.477273	0.5	6078.12	33	chr6	159692840	.	A	G	6078.12	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.446;DP=294;ExcessHet=0.3696;FS=1.405;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.12;ReadPosRankSum=0.657;SOR=0.551	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1929,168,0	2	2	3	0
chr7	16278234	16278234	-	A	intronic	CRPPA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	195281	not_provided|Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7|not_specified	MedGen:C3661900|MedGen:CN239202|MONDO:MONDO:0014474,MedGen:C5190987,OMIM:616052,Orphanet:352479|MONDO:MONDO:0013835,MedGen:C3553330,OMIM:614643,Orphanet:899|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0748	.	0.0735	0.1873	0.0511	0.0304	0.0238	0.0680	0.0732	0.0573	0.0047641	124	26028	rs3839757	0.0412	0.0543	0.0405	0.0420	0.1580	0.0409	0.0408	0.1537	0.1520	0.1580	0.0402	0.1747	0.0316	0.0254	0.0891	0.0345	0.0578	0.0441	0.0699	0.0694	0.0714	0.0683	0.1606	0.0688	0.0683	0.1573	0.1560	0.1606	0.0322	0.0442	0.1694	0.0192	0.0192	0.0552	0.0290	0.0733	0.0390	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	303.59	18	chr7	16278234	.	T	TA	303.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.445;DP=176;ExcessHet=0;FS=7.652;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=0.449;SOR=2.049	GT:AD:DP:GQ:PL	0/1:18,14:34:99:314,0,379	6	0	1	0
chr7	21773975	21773975	A	G	exonic	DNAH11	.	synonymous SNV	DNAH11:NM_001277115:exon56:c.A9312G:p.Q3104Q	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	5	1499	17	1	0	19	0.00629765	.	.	.	302471	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886062181	4.934e-06	5.472e-06	2.79e-06	7.126e-06	0.0005	2.05e-06	1.32e-06	0.0001	7.66e-05	0	0	0	0	0	0.0005	9.168e-07	5.097e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	778.53	17	chr7	21773975	.	A	G	778.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.136;DP=218;ExcessHet=0;FS=2.153;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.04;SOR=1.022	GT:AD:DP:GQ:PL	0/1:33,31:64:99:789,0,868	6	0	1	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	5	243	697	577	0	1851	0.792041	.	.	.	195811	Primary_ciliary_dyskinesia_7|DNAH11-related_disorder|not_provided	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10960.4	49	chr7	21867834	.	G	GT	10960.4	.	AC=10;AF=0.714;AN=14;BaseQRankSum=-1.147;DP=401;ExcessHet=2.5225;FS=2.299;MLEAC=10;MLEAF=0.714;MQ=60;MQRankSum=0;QD=27.96;ReadPosRankSum=-0.669;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,73:73:99:1|1:21867834_G_GT:3241,220,0:21867834	0	3	4	0
chr7	30633897	30633897	A	-	UTR3	GARS1	NM_001316772:c.*37delA;NM_002047:c.*37delA	.	.	.	.	.	.	.	.	.	.	.	.	.	311094	Peripheral_axonal_neuropathy|not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2	Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4340	0.3441	0.4374	0.3782	0.4914	0.4724	0.4415	0.3535	0.0001153	3	26028	rs70983380	0.4481	0.4561	0.4506	0.4455	0.4627	0.4470	0.4466	0.4612	0.4607	0.3255	0.4260	0.4633	0.3725	0.4512	0.4627	0.4624	0.4401	0.3583	0.5853	0.5832	0.5905	0.5799	0.6886	0.5820	0.5807	0.6833	0.6812	0.4015	0.7719	0.5987	0.7201	0.4922	0.6382	0.6586	0.6886	0.5897	0.4457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1551.99	11	chr7	30633896	.	TA	T	1551.99	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.15;DP=138;ExcessHet=3.1439;FS=5.336;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-0.842;SOR=1.397	GT:AD:DP:GQ:PL	1/0:3,21:28:23:533,30,23	0	0	6	1
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	Peripheral_axonal_neuropathy|not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2	Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1458	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1551.99	11	chr7	30633896	.	TAA	T	1551.99	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.15;DP=138;ExcessHet=3.1439;FS=5.336;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-0.842;SOR=1.397	GT:AD:DP:GQ:PL	0/1:3,4:28:23:533,411,498	4	0	2	1
chr7	56019599	56019599	C	-	splicing	PSPH	NM_001370504:exon5:c.275+1G>-;NM_004577:exon5:c.275+1G>-;NM_001370519:exon6:c.275+1G>-;NM_001370508:exon7:c.275+1G>-;NM_001370507:exon6:c.275+1G>-;NM_001370503:exon5:c.275+1G>-;NM_001370506:exon6:c.275+1G>-;NM_001370505:exon6:c.275+1G>-;NM_001370521:exon7:c.275+1G>-;NM_001370520:exon7:c.275+1G>-;NM_001370522:exon6:c.275+1G>-;NM_001370511:exon6:c.275+1G>-;NM_001370510:exon4:c.275+1G>-;NM_001370509:exon4:c.275+1G>-;NM_001370518:exon8:c.275+1G>-;NM_001370517:exon7:c.275+1G>-;NM_001370516:exon6:c.275+1G>-;NM_001370515:exon6:c.275+1G>-;NM_001370514:exon5:c.275+1G>-;NM_001370513:exon6:c.275+1G>-;NM_001370512:exon5:c.275+1G>-	.	.	Phosphoserine phosphatase deficiency, Autosomal recessive	0	1113	409	0	0	409	0.155218	.	.	.	389820	not_provided|Neurometabolic_disorder_due_to_serine_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0018162,MedGen:C5680148,Orphanet:35705|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.0173	0.0010	0.0043	0.0025	0.0014	0.0045	0.0154	0.0112571	293	26028	rs139106189	0.0280	0.1150	0.0264	0.0296	0.2882	0.0277	0.0276	0.2824	0.2801	0.2458	0.0506	0.0260	0.2882	0.0782	0.0707	0.0123	0.0428	0.0570	0.2421	0.2770	0.2385	0.2459	0.4694	0.2399	0.2390	0.4634	0.4610	0.4694	0.0600	0.2217	0.1153	0.4012	0.1785	0.1468	0.1173	0.2195	0.2924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	546.35	16	chr7	56019598	.	AC	A	546.35	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.195;DP=131;ExcessHet=0.3476;FS=2.582;MLEAC=2;MLEAF=0.143;MQ=59.94;MQRankSum=0;QD=8.03;ReadPosRankSum=-0.152;SOR=0.377	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,11:42:99:0|1:56019585_C_A:369,0,1269:56019585	5	0	2	0
chr7	74053320	74053320	-	TGTGTG	intronic	ELN	.	.	.	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	311575	Cutis_laxa,_autosomal_dominant|not_provided|Supravalvar_aortic_stenosis	MONDO:MONDO:0019571,MedGen:C0268350,Orphanet:90348|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0056	0.0149	0.0008	0.0022	0.0009	0.0044	0.0115	0.0081	0.0027684	428	154602	rs782441301	0.0129	0.0181	0.0131	0.0128	0.0286	0.0128	0.0127	0.0271	0.0264	0.0286	0.0075	0.0052	0.0033	0.0036	0.0062	0.0139	0.0122	0.0100	0.0238	0.0240	0.0252	0.0223	0.0431	0.0231	0.0228	0.0414	0.0407	0.0431	0.0225	0.0166	0.0062	0.0065	0.0037	0.0213	0.0201	0.0135	0.0121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18541.4	84	chr7	74053320	.	C	CTGTGTG	18541.4	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.38;DP=1027;ExcessHet=0.4813;FS=5.16;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=30.2;ReadPosRankSum=1.59;SOR=0.371	GT:AD:DP:GQ:PL	0/1:56,32:99:99:1252,0,2343	5	0	2	0
chr7	92499848	92499848	A	-	intronic	PEX1	.	.	.	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303594	Peroxisome_biogenesis_disorder_1B|not_specified|not_provided|Peroxisome_biogenesis_disorder_1A_(Zellweger)|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder|Heimler_syndrome_1	MONDO:MONDO:0011101,MedGen:C0282527,OMIM:601539,Orphanet:44|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008953,MedGen:C4721541,OMIM:214100|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0019234,MedGen:C1832200,OMIM:PS214100,Orphanet:79189|MedGen:C4551980,OMIM:234580,Orphanet:3220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6319	0.5664	0.6158	0.6094	0.7255	0.6498	0.6654	0.5841	0.0003458	9	26028	rs5885806	0.5851	0.5925	0.5867	0.5836	0.6467	0.5840	0.5835	0.6280	0.6204	0.5100	0.5557	0.5589	0.5474	0.5831	0.6467	0.5926	0.5761	0.5680	0.7451	0.7412	0.7444	0.7459	0.8506	0.7414	0.7399	0.8285	0.8195	0.6243	0.8190	0.7682	0.7791	0.6893	0.7818	0.7778	0.7999	0.7537	0.8506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	4651.75	18	chr7	92499847	.	CA	C	4651.75	.	AC=11;AF=0.786;AN=14;BaseQRankSum=-0.911;DP=239;ExcessHet=0;FS=0;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=27.36;ReadPosRankSum=1.54;SOR=0.951	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1307,141,0	1	5	1	0
chr7	103557156	103557156	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon38:c.C5618T:p.T1873I,RELN:NM_173054:exon38:c.C5618T:p.T1873I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	5	1441	66	10	0	86	0.0289757	.	.	.	177377	Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7|RELN-related_disorder|not_provided|not_specified	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	.	0.0023	0.00259585	0.0044	0.0006	0.0013	0	0.0011	0.0038	0.0033	0.0149	0.0039974	618	154602	rs41275239	0.0036	0.0036	0.0031	0.0041	0.0156	0.0035	0.0035	0.0149	0.0146	0.0005	0.0010	0.0089	2.522e-05	0.0008	0.0125	0.0029	0.0039	0.0156	0.0027	0.0027	0.0025	0.0029	0.0193	0.0025	0.0024	0.0161	0.0150	0.0006	0.0154	0.0009	0.0081	0	0.0004	0.0102	0.0033	0.0033	0.0193	0.409	0.10659	T	0.092	0.39954	T	0.001	0.12996	B	0.002	0.12992	B	0.000047	0.53742	D	0.167803	0.995457	0.42699	D	0.665	0.16292	N	1.88	0.23884	T	-1.15	0.29525	N	0.297	0.36884	-1.1066	0.03378	T	0.063	0.26029	T	10	0.006139159	0.00138	T	.	.	.	0.064	0.18567	.	.	0.151262610727	0.14761	0.36964579770135547	0.36878	0.185958582119	0.20903	0.539009332657	0.44306	T	0.057476	0.30576	T	-0.537201	0.00348	T	-0.532104	0.19077	T	0.015456933726748	0.00347	T	0.867413	0.56831	D	0.14101699	0.32510	0.17155404	0.39346	0.157696	0.35519	0.17927895	0.40651	-3.941	0.22918	T	0.10417546178359656	0.08118	0.088	0.11606	B	.;.;.	.;.;.	3.200901	0.43526	21.8	0.99059792804306646	0.51459	0.94579	0.61626	D	AEFBI	0.811231	0.73427	D	0.110212383688809	0.46938	2.926677	0.307183394079608	0.55960	3.758986	0.834191241572407	0.24747	0.536767	0.22168	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.77	5.77	0.91077	6.195000	0.72012	11.931000	0.99922	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.07:0.0:0.93:0.0	14.526	0.67476	901	0.24189	.;.;.	.	.	.	.	.	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	0.007560	0.000000	0.004076	0.005848	0.000000	0.000000	0.012195	0.026515	0.07143	868.83	34	chr7	103557156	.	G	A	868.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.662;DP=219;ExcessHet=0;FS=11.034;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=1.42;SOR=0.109	GT:AD:DP:GQ:PL	0/1:24,32:56:99:879,0,660	6	0	1	0
chr7	103989356	103989356	-	GCCGCC	UTR5	RELN	NM_173054:c.-1_0insGGCGGC;NM_005045:c.-1_0insGGCGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	74	331	411	457	249	1574	0.666834	.	.	.	135555	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Lissencephaly,_Recessive|not_provided|not_specified	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN239458|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.604233	0.0752	0.0333	0.0078	0.0295	0.0487	0.0216	0.1337	0.2712	0.0001153	3	26028	rs587780434	0.4279	0.4210	0.4270	0.4288	0.6345	0.4270	0.4266	0.6265	0.6232	0.4306	0.2776	0.3620	0.6345	0.3927	0.4386	0.4227	0.4408	0.5133	0.5219	0.5255	0.5206	0.5232	0.7433	0.5188	0.5175	0.7227	0.7143	0.5155	0.4234	0.5423	0.4904	0.7433	0.5017	0.5647	0.5012	0.5010	0.6741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	3648.44	34	chr7	103989356	.	T	TGCCGCC	3648.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.025;DP=327;ExcessHet=0.3696;FS=2.647;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=1.37;SOR=0.523	GT:AD:DP:GQ:PL	0/1:36,26:62:99:972,0,1435	2	1	4	0
chr7	117479634	117479634	A	G	upstream	CFTR	dist=391	.	.	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	.	.	.	.	.	.	.	.	.	.	186743	Cystic_fibrosis|Hereditary_pancreatitis|CFTR-related_disorder|not_provided	MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C5924204|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000998403	.	.	.	.	.	.	.	.	0.0014215	37	26028	rs185028612	0.0019	0.0012	0.0020	0.0018	0.0025	0.0016	0.0015	0.0021	0.0019	0	0	0	0	0.0086	0	0.0025	0.0018	0	0.0019	0.0019	0.0016	0.0021	0.0023	0.0017	0.0016	0.0020	0.0019	0.0003	0.0011	0.0005	0	0.0002	0.0096	0	0.0023	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	115.0	2	chr7	117479634	.	A	G	115.0	.	AC=2;AF=0.167;AN=12;DP=21;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.75;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:132,12,0	5	1	0	1
chr7	117559655	117559655	G	A	exonic	CFTR	.	synonymous SNV	CFTR:NM_000492:exon11:c.G1584A:p.E528E	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	8	1500	13	1	0	15	0.00497512	0.9939	0.982	YES	52745	Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|CFTR-related_disorder|Cystic_fibrosis|Pancreatitis|not_provided|Hereditary_pancreatitis|not_specified	MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033|MedGen:C5924204|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|Human_Phenotype_Ontology:HP:0001733,MONDO:MONDO:0004982,MedGen:C0030305|MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0144	0.0105831	0.0169	0.0056	0.0154	0.0001	0.0208	0.0241	0.0224	0.0030	0.0168368	2603	154602	rs1800095	0.0204	0.0205	0.0208	0.0200	0.0236	0.0202	0.0201	0.0234	0.0233	0.0031	0.0190	0.0022	0	0.0239	0.0071	0.0236	0.0157	0.0032	0.0170	0.0170	0.0172	0.0167	0.0302	0.0164	0.0162	0.0279	0.0270	0.0043	0.0308	0.0302	0.0026	0.0002	0.0240	0.0068	0.0234	0.0190	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.060606	0.012228	0.000000	0.000000	0.000000	0.009146	0.003788	0.07143	525.94	22	chr7	117559655	.	G	A	525.94	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.05;DP=170;ExcessHet=0;FS=3.188;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-2.057;SOR=1.345	GT:AD:DP:GQ:PL	0/1:25,18:43:99:536,0,621	6	0	1	0
chr7	127611134	127611134	T	G	exonic	PAX4	.	nonsynonymous SNV	PAX4:NM_001366110:exon12:c.A986C:p.H329P	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	2	82	476	962	0	2400	0.936037	.	.	.	135324	Maturity_onset_diabetes_mellitus_in_young|not_specified|Type_2_diabetes_mellitus|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	.	0.7689	0.670527	0.7578	0.7322	0.7423	0.4202	0.7684	0.8044	0.7467	0.7554	0.725301	112133	154602	rs712701	0.7674	0.7670	0.7682	0.7667	0.8259	0.7662	0.7657	0.8061	0.7980	0.7074	0.7284	0.8786	0.3413	0.7310	0.8259	0.7867	0.7670	0.7429	0.7435	0.7432	0.7492	0.7375	0.7833	0.7398	0.7383	0.7778	0.7755	0.7148	0.7971	0.7502	0.8839	0.3684	0.7200	0.8605	0.7833	0.7431	0.7408	0.408	0.10212	T	0.219	0.30729	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20581	P	.	.	.	-3.33	0.93928	D	1.39	0.01213	N	0.081	0.05670	-0.9663	0.37954	T	0.000	0.00011	T	8	1.1978148e-06	0.00003	T	.	.	.	0.161	0.41658	.	.	.	.	0.12102702557250804	0.12029	0.0698190254373	0.07817	0.26767089963	0.05839	T	.	.	.	-0.571133	0.00218	T	-0.44935	0.27768	T	0.00134707249194439	0.00013	T	0.183282	0.01882	T	.	.	.	.	.	.	.	.	-1.39	0.01553	T	.	.	0.044	0.00041	B	.;.;.	.;.;.	-0.145898	0.03378	0.604	0.11202797598852418	0.00162	0.00036	0.00313	N	AEFBI	0.024692	0.01571	N	-1.36829045637932	0.02940	0.130581	-1.45169956986729	0.02755	0.1272828	0.358955711383461	0.19758	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.74	-3.35	0.04620	-1.259000	0.02970	0.781000	0.21481	-0.295000	0.06246	0.000000	0.06391	0.952000	0.29052	0.007000	0.07825	0.498:0.1222:0.2554:0.1244	2.721	0.04879	0	0.99858	.;.;.	SND1|SND1|SND1|SND1|LRRC4|GCC1|GCC1|SND1|GCC1|GCC1	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Brain_Spinal_cord_cervical_c-1|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs712701	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.814271	0.836735	0.841033	0.835294	0.750000	0.793103	0.754601	0.746154	0.7857	13950.1	64	chr7	127611134	.	T	G	13950.1	.	AC=11;AF=0.786;AN=14;BaseQRankSum=1.17;DP=578;ExcessHet=1.1394;FS=0.666;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=24.65;ReadPosRankSum=0.824;SOR=0.586	GT:AD:DP:GQ:PL	0/1:78,68:146:99:1850,0,1824	0	4	3	0
chr7	127611679	127611679	A	-	intronic	PAX4	.	.	.	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	0	1136	207	0	179	386	0.0835014	.	.	.	301757	Maturity_onset_diabetes_mellitus_in_young|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1626	.	0.2506	0.1907	0.2823	0.2391	0.1142	0.2532	0.25	0.3115	0.0004995	13	26028	rs772936097	0.0431	0.2122	0.0422	0.0442	0.0981	0.0427	0.0426	0.0943	0.0928	0.0488	0.0981	0.0799	0.0547	0.0666	0.0384	0.0376	0.0486	0.0587	0.0028	0.0050	0.0029	0.0027	0.0067	0.0026	0.0025	0.0060	0.0057	0.0067	0	0.0014	0.0006	0.0006	0.0041	0	0.0012	0.0015	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	888.04	26	chr7	127611678	.	TA	T	888.04	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.4;DP=285;ExcessHet=1.1394;FS=3.887;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.38;ReadPosRankSum=-0.426;SOR=0.445	GT:AD:DP:GQ:PL	0/1:59,9:68:50:50,0,1454	6	0	1	0
chr7	142750561	142750561	C	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.C47T:p.A16V	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	788	734	0	0	734	0.317749	.	.	YES	46925	not_provided|Recurrent_pancreatitis|Hereditary_pancreatitis	MedGen:C3661900|Human_Phenotype_Ontology:HP:0100027,MedGen:C4551632|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.524	.	.	.	0.0160	0.0479	0.0047	0.0021	0.0128	0.0164	0.0210	0.0113	0.0135833	2100	154602	rs202003805	0.2021	0.3260	0.1994	0.2049	0.3871	0.2013	0.2010	0.3798	0.3768	0.3871	0.3293	0.2961	0.1035	0.3682	0.1866	0.1904	0.2197	0.1188	0.3862	0.4088	0.3910	0.3812	0.4582	0.3832	0.3820	0.4521	0.4495	0.4582	0.3653	0.3885	0.3815	0.1497	0.3882	0.3266	0.3733	0.3802	0.2128	0.566	0.06502	T	0.351	0.19721	T	0.0	0.02946	B	0.002	0.06944	B	0.018559	0.27457	N	0.446479	0.985655	0.24690	N	0.625	0.15840	N	-3.17	0.93054	D	-0.01	0.07155	N	0.072	0.08366	-0.5774	0.65720	T	0.542	0.83122	D	10	0.0054525733	0.00120	T	.	.	.	0.524	0.79825	.	.	.	.	0.5690087331218414	0.56828	0.162344706958	0.18315	0.232086211443	0.02126	T	0.208591	0.56856	T	0.119743	0.66346	D	-0.0657736	0.65926	T	0.0260900631546974	0.01419	T	.	.	.	0.016501123	0.00202	0.035258744	0.02744	0.015689086	0.00152	0.033967946	0.02380	-4.735	0.33824	T	.	.	0.128	0.27373	B	.;.;.	.;.;.	0.257558	0.06365	2.827	0.30547631428140182	0.01676	0.01640	0.05278	N	AEFDBI	0.139100	0.26059	N	-1.28146295350348	0.03898	0.1749983	-1.30565312385982	0.04356	0.2053128	0.136983366606344	0.17200	0.549168	0.22868	0	0.627178	0.54094	0	0.574621	0.27300	0	0.530356	0.10902	0	.	.	3.49	0.989	0.18920	0.485000	0.22033	.	.	-1.601000	0.00893	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2125:0.0:0.7875	7.043	0.24210	776	0.48302	.;.;.	.	.	.	.	.	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	0	0	0.009060	0.025974	0.000000	0.004274	0.062500	0.000000	0.031915	0.008000	0.2857	3483.04	81	chr7	142750561	.	C	T	3483.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.54;DP=457;ExcessHet=2.5225;FS=6.976;MLEAC=4;MLEAF=0.286;MQ=57.07;MQRankSum=-6.867;QD=9.31;ReadPosRankSum=-0.274;SOR=0.428	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,32:123:99:0|1:142750558_C_G:1070,0,3629:142750558	3	0	4	0
chr7	142750675	142750675	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.A161G:p.N54S	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1165	357	0	0	357	0.132862	.	.	.	26920	not_specified|Hereditary_pancreatitis	MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.355	.	.	.	0.0354	0.0748	0.0127	0.0043	0.0416	0.0323	0.0528	0.0537	0.0003842	10	26028	rs144422014	0.0485	0.1673	0.0431	0.0541	0.1643	0.0482	0.0480	0.1599	0.1580	0.1117	0.1643	0.1341	0.0273	0.2064	0.0482	0.0386	0.0676	0.0350	0.2790	0.3612	0.2847	0.2732	0.3794	0.2760	0.2748	0.3726	0.3698	0.3794	0.2481	0.2697	0.2695	0.0620	0.2849	0.1951	0.2592	0.2679	0.0988	0.448	0.09075	T	0.623	0.13912	T	0.0	0.02946	B	0.001	0.04355	B	0.001478	0.38917	N	0.304664	6.371e-07	0.08975	A	-0.23	0.03940	N	-2.87	0.91478	D	-1.05	0.28290	N	0.04	0.03726	-0.6892	0.60945	T	0.247	0.61600	T	9	0.0784502	0.12504	T	.	.	.	0.355	0.67600	.	.	.	.	0.5012227439210316	0.50044	0.128612980855	0.14499	0.257050007582	0.04546	T	0.49228	0.81630	T	-0.0785813	0.39944	T	-0.350653	0.39129	T	0.0736112371087074	0.09149	T	.	.	.	0.2644275	0.49510	0.109853335	0.26482	0.094889425	0.22319	0.06812106	0.14182	-6.432	0.49759	T	.	.	0.070	0.03698	B	.;.;.;.	.;.;.;.	-2.080381	0.00084	0.001	0.26841523162452846	0.01304	0.01504	0.04979	N	AEFDBI	0.151876	0.27644	N	-1.8369064160701	0.00461	0.0198398	-1.85065327251252	0.00610	0.02711572	0.9475443675706	0.27758	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	-6.32	0.01820	-1.848000	0.01766	.	.	-3.345000	0.00094	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4768:0.1255:0.3977:0.0	6.959	0.23768	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	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	0.012835	0.027778	0.002740	0.013043	0.222222	0.000000	0.014184	0.021186	0.3571	1691.11	85	chr7	142750675	.	A	G	1691.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.408;DP=521;ExcessHet=4.7409;FS=4.98;MLEAC=5;MLEAF=0.357;MQ=58.52;MQRankSum=-8.572;QD=3.79;ReadPosRankSum=-1.697;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,22:142:99:0|1:142750672_T_A:563,0,4952:142750672	2	0	5	0
chr7	142750680	142750680	C	T	exonic	PRSS1	.	stopgain	PRSS1:NM_002769:exon2:c.C166T:p.Q56X	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1242	280	0	0	280	0.101302	.	.	.	933720	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0318	0.0685	0.0106	0.0041	0.0339	0.0291	0.0474	0.0480	0.0003074	8	26028	rs147366981	0.0267	0.1326	0.0229	0.0307	0.0653	0.0265	0.0263	0.0624	0.0612	0.0570	0.0653	0.0663	0.0176	0.1422	0.0264	0.0220	0.0394	0.0170	0.2451	0.3472	0.2492	0.2408	0.3469	0.2422	0.2410	0.3402	0.3375	0.3469	0.2122	0.2373	0.2308	0.0477	0.2609	0.1513	0.2221	0.2305	0.0781	.	.	.	.	.	.	.	.	.	.	.	.	0.016899	0.27861	N	0.410325	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.711	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416393	0.90831	D	0.360343	0.90716	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	4.129577	0.61790	24.4	0.99516745074967428	0.68979	0.11811	0.16877	N	AEFDBI	0.295314	0.40546	N	0.145216833814894	0.48585	3.069039	-0.169272407184608	0.32673	1.861256	0.255023528038656	0.18723	0.549168	0.22868	0	0.563428	0.19063	0	0.574621	0.27300	0	0.616125	0.45549	0	.	.	3.49	2.59	0.30091	0.110000	0.15273	.	.	-2.564000	0.00244	0.000000	0.06391	0.002000	0.18203	0.002000	0.04165	0.0:0.8252:0.1747:0.0	12.188	0.53561	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1467.11	77	chr7	142750680	.	C	T	1467.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0;DP=511;ExcessHet=4.7409;FS=2.717;MLEAC=5;MLEAF=0.357;MQ=58.55;MQRankSum=-8.572;QD=3.37;ReadPosRankSum=-1.834;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,20:138:99:0|1:142750672_T_A:485,0,4874:142750672	2	0	5	0
chr7	142750715	142750715	G	A	splicing	PRSS1	NM_002769:exon2:c.200+1G>A	.	.	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1452	70	0	0	70	0.0235373	1.0000	0.848	.	389795	Hereditary_pancreatitis|not_specified	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0168	0.0324	0.0042	0.0020	0.0238	0.0143	0.0236	0.0308	4.53e-05	7	154602	rs143909348	0.0011	0.0454	0.0008	0.0014	0.0019	0.0010	0.0010	0.0015	0.0014	0.0019	0.0005	0.0008	0.0006	0.0019	0.0014	0.0011	0.0015	2.527e-05	0.0248	0.1744	0.0235	0.0261	0.0474	0.0239	0.0236	0.0450	0.0440	0.0474	0.0224	0.0233	0.0141	0.0027	0.0353	0.0055	0.0170	0.0232	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203112	0.74183	D	0.05398	0.73846	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.670096	0.92930	33	0.99152217748706628	0.53848	0.96810	0.71061	D	AEFDBI	.	.	.	0.873327191576921	0.90394	10.38377	0.628514251622925	0.77020	6.599509	0.999995312873056	0.74766	0.087844	0.02253	0	0.085267	0.02369	0	0.106748	0.03127	0	0.075334	0.01956	0	0.824128	0.49265	3.49	3.49	0.39065	9.545000	0.97193	.	.	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	14.397	0.66584	776	0.48302	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	201.79	55	chr7	142750715	.	G	A	201.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.23;DP=317;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.167;MQ=57.81;MQRankSum=-0.842;QD=2.02;ReadPosRankSum=-1.834;SOR=0.82	GT:AD:DP:GQ:PL	0/1:82,12:94:99:134,0,2151	4	0	2	1
chr7	142752476	142752476	G	C	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon4:c.G500C:p.S167T	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	495	1027	0	0	1027	0.509172	.	.	.	1044764	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.289	0.0561978714716	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232891794	0.2545	0.3268	0.2490	0.2598	0.3691	0.2536	0.2533	0.3636	0.3614	0.2301	0.3691	0.3339	0.1146	0.3574	0.2639	0.2514	0.2503	0.2264	0.4061	0.4174	0.4095	0.4025	0.4695	0.4032	0.4020	0.4636	0.4612	0.4695	0.3848	0.4099	0.4028	0.1747	0.4131	0.3359	0.3953	0.3970	0.2476	0.157	0.23997	T	0.098	0.39040	T	0.0	0.07471	B	0.01	0.14941	B	0.083030	0.20775	N	0.574518	1	0.08975	N	1.445	0.36358	L	-3.32	0.93882	D	-2.14	0.48523	N	0.225	0.25622	-0.1577	0.78727	T	0.698	0.89598	D	10	0.23140222	0.40113	T	0.056198	0.66515	D	0.289	0.60808	0.642	0.77903	0.527610103971	0.52408	0.7123115361635766	0.71173	0.155586269279	0.17559	0.440457701683	0.30639	T	0.578285	0.86150	D	-0.00289087	0.51255	T	-0.241929	0.50610	T	0.0861879674086316	0.10760	T	.	.	.	0.1717769	0.37831	0.16736849	0.38616	0.1717769	0.37831	0.16736849	0.38615	-3.967	0.23308	T	.	.	0.124	0.29172	B	.;.;.;.	.;.;.;.	-0.119171	0.03530	0.672	0.49745973133581234	0.04263	0.00742	0.03097	N	AEFBI	0.279347	0.39342	N	-1.33556641628984	0.03277	0.1461073	-1.43646429030785	0.02895	0.1340265	4.17954976400154E-4	0.06899	0.446893	0.09132	0	0.457222	0.06608	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	-1.85	0.07363	0.606000	0.23891	.	.	-1.515000	0.01011	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6816:0.3184:0.0	15.926	0.79405	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	4962.03	143	chr7	142752476	.	G	C	4962.03	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.049;DP=808;ExcessHet=4.7409;FS=2.062;MLEAC=5;MLEAF=0.357;MQ=58.69;MQRankSum=-6.896;QD=6.94;ReadPosRankSum=1.19;SOR=0.541	GT:AD:DP:GQ:PL	0/1:178,50:228:99:1413,0,4804	2	0	5	0
chr7	154053047	154053047	A	T	exonic	DPP6	.	nonsynonymous SNV	DPP6:NM_001290253:exon1:c.A227T:p.D76V,DPP6:NM_130797:exon1:c.A227T:p.D76V	Mental retardation, autosomal dominant 33	87	1370	63	2	0	67	0.0238689	.	.	.	247021	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.126	.	.	0.00159744	0.0574	0	.	.	.	0.075	0	0.0357	0.0011837	183	154602	rs572667303	0.0148	0.0110	0.0149	0.0148	0.0300	0.0146	0.0145	0.0241	0.0220	0.0020	0.0145	0.0261	9.518e-05	0.0042	0.0300	0.0155	0.0146	0.0056	0.0108	0.0107	0.0116	0.0099	0.0158	0.0104	0.0102	0.0147	0.0144	0.0030	0	0.0158	0.0331	0	0.0022	0.0204	0.0155	0.0188	0.0055	0.025	0.47320	D	0.154	0.32040	T	0.119	0.26641	B	0.041	0.23986	B	0.000000	0.00162	N	7739.210000	0.935346	0.81001	D	.	.	.	0.92	0.44461	T	-0.45	0.14782	N	0.242	0.40665	-1.1072	0.03321	T	0.086	0.33354	T	9	0.0031171143	0.00052	T	.	.	.	0.126	0.34673	.	.	0.418159628064	0.41432	0.17424710242975305	0.17343	0.589955309425	0.54475	0.911425590515	0.97604	D	0.017692	0.14390	T	-0.463032	0.00941	T	-0.425566	0.30439	T	0.0210366499213472	0.00804	T	.	.	.	0.20180008	0.42203	0.14007637	0.33402	0.20180008	0.42203	0.14007637	0.33401	-6.34	0.49039	T	.	.	0.378	0.58334	A	.;.	.;.	2.754137	0.36104	20.2	0.78847230867066109	0.12479	0.61112	0.31390	D	AEFDBIJ	0.114985	0.22627	N	-0.744231118289648	0.14791	0.7397859	-0.715476853498762	0.16575	0.8775067	0.0338047295253189	0.14123	0.487112	0.14033	0	0.573888	0.26702	0	0.608004	0.38603	0	0.564101	0.26826	0	.	.	3.2	1.98	0.25351	2.408000	0.44227	7.206000	0.57810	0.519000	0.23678	0.999000	0.42656	1.000000	0.68203	0.973000	0.55318	0.8081:0.1919:0.0:0.0	8.763	0.33848	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012048	0.000000	0.000000	0.027397	0.000000	0.000000	0.018987	0.000000	0.08333	316.27	9	chr7	154053047	.	A	T	316.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.96;DP=124;ExcessHet=0;FS=1.398;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.695;SOR=0.425	GT:AD:DP:GQ:PL	0/1:17,14:31:99:326,0,331	5	0	1	1
chr8	6499914	6499914	C	G	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001322042:exon12:c.C2199G:p.H733Q,MCPH1:NM_001363979:exon12:c.C2199G:p.H733Q,MCPH1:NM_024596:exon12:c.C2199G:p.H733Q	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	2	1513	7	0	0	7	0.00230795	.	.	.	899952	Microcephaly_1,_primary,_autosomal_recessive|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.129	0.0038715443011	0.0002	.	0.0001	0	0	0	0	8.99e-05	0.0033	0.0005	0.0001488	23	154602	rs202015253	9.922e-05	9.987e-05	6.536e-05	0.0001	0.0009	8.581e-05	8.05e-05	0.0007	0.0007	5.975e-05	0.0001	0	0	0	0.0007	4.227e-05	0.0002	0.0009	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	9.233e-05	0.0007	0.0005	0	0	0.0005	0	0.0004	0	0	0.0001	0	0.0015	0.233	0.18122	T	0.352	0.17372	T	0.013	0.16609	B	0.004	0.10090	B	0.585008	0.05558	N	1.179420	0.538707	0.81001	D	0.345	0.11182	N	2.18	0.18875	T	-1.28	0.32185	N	0.114	0.10198	-1.0788	0.07582	T	0.057	0.23828	T	10	0.053441435	0.05537	T	0.003872	0.09086	T	0.129	0.35316	0.382	0.39970	0.526641945673	0.52312	0.20019492623862123	0.19936	.	.	0.297507345676	0.10030	T	0.162888	0.50773	T	-0.583419	0.00184	T	-0.711654	0.05211	T	0.0596184246242046	0.07109	T	.	.	.	0.23075016	0.45835	0.17753324	0.40361	0.30129564	0.53021	0.1584517	0.37002	-6.247	0.48301	T	.	.	0.163	0.35992	B	.	.	2.460628	0.31700	18.82	0.96448635557451656	0.29855	0.74114	0.36252	D	AEFBI	0.096790	0.19534	N	-0.102328461778403	0.37290	2.167473	0.0639460405314104	0.42750	2.591341	0.173903314657196	0.17775	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.645665	0.59343	0	.	.	5.78	5.78	0.91418	0.540000	0.22900	2.167000	0.31025	0.549000	0.26987	0.725000	0.28872	0.987000	0.30940	0.736000	0.35301	0.0:0.9166:0.0:0.0834	11.187	0.47891	976	0.04745	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	1575.44	36	chr8	6499914	.	C	G	1575.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.24;DP=405;ExcessHet=0;FS=0.547;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.397;SOR=0.747	GT:AD:DP:GQ:PL	0/1:106,77:183:99:1586,0,2514	6	0	1	0
chr8	10610127	10610127	-	CCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG:p.E1324_G2392delinsGTKVIEGLQEERVQLEETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	2	62	35	14	113	176	0.336898	.	.	.	490785	not_specified|Occult_macular_dystrophy|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019748	514	26028	rs369606728	0.3003	0.2931	0.3009	0.2996	0.3367	0.2994	0.2990	0.3356	0.3352	0.0668	0.1268	0.2984	0.0016	0.2804	0.2689	0.3367	0.2875	0.1937	0.2690	0.2723	0.2800	0.2574	0.3823	0.2665	0.2655	0.3781	0.3764	0.1017	0.3651	0.1960	0.3263	0.0039	0.2681	0.3259	0.3823	0.2752	0.1849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	31395.9	84	chr8	10610127	.	T	TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	31395.9	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.19;DP=1195;ExcessHet=0.3696;FS=0;MLEAC=5;MLEAF=0.357;MQ=59.77;MQRankSum=2.35;QD=30.62;ReadPosRankSum=-0.673;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,179:274:99:0|1:10610127_T_TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC:6463,0,3345:10610127	3	1	3	0
chr8	22165143	22165146	GGAG	-	upstream;downstream	BMP1;SFTPC	dist=226;dist=665	.	.	.	961	445	48	68	0	184	0.171322	.	.	.	313871	not_provided|Osteogenesis_Imperfecta,_Recessive	MedGen:C3661900|MedGen:CN239451	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs750344454	0.1919	0.1472	0.1910	0.1927	0.2256	0.1903	0.1897	0.2144	0.2099	0.0570	0.2256	0.1847	0.0097	0.2767	0.1734	0.2043	0.1859	0.2043	0.1727	0.1650	0.1665	0.1792	0.2364	0.1707	0.1699	0.2293	0.2265	0.0456	0.3420	0.2364	0.1850	0.0059	0.3297	0.1800	0.2174	0.1714	0.2260	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	170.85	.	chr8	22165142	.	CGGAG	C	170.85	.	AC=2;AF=0.5;AN=4;DP=6;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.75;MQ=60;QD=28.3;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0	1	1	0	5
chr8	95247720	95247720	T	C	exonic	C8orf37	.	nonsynonymous SNV	C8orf37:NM_001363260:exon5:c.A425G:p.K142R,C8orf37:NM_177965:exon6:c.A521G:p.K174R	Cone-rod dystrophy 16, Autosomal recessive;Retinitis pigmentosa 64, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	267667	not_provided|Cone-rod_dystrophy_16|Retinitis_pigmentosa|not_specified	MedGen:C3661900|MONDO:MONDO:0013786,MedGen:C3281045,OMIM:614500|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.167	0.0259562080629	0.0004	0.000998403	0.0007	0	0	0	0	0.0010	0.0011	0.0013	0.0006727	104	154602	rs148114532	0.0005	0.0005	0.0004	0.0006	0.0014	0.0005	0.0004	0.0012	0.0011	0	2.246e-05	0.0122	0	0	0.0010	0.0002	0.0012	0.0014	0.0004	0.0004	0.0004	0.0005	0.0025	0.0004	0.0003	0.0014	0.0011	0	0	0	0.0112	0	0	0	0.0002	0	0.0025	0.293	0.14843	T	0.45	0.12957	T	0.433	0.35643	B	0.127	0.32738	B	0.007277	0.31496	N	0.355327	0.95456	0.26365	N	2.045	0.56016	M	-1.65	0.82625	D	-1.2	0.30555	N	0.126	0.11912	-0.5507	0.66760	T	0.422	0.76670	T	10	0.0063038766	0.00142	T	0.025956	0.48901	D	0.167	0.42761	.	.	0.606927088724	0.60377	0.19837312854740127	0.19754	0.159409428021	0.17987	.	.	.	0.310923	0.68285	T	-0.384855	0.02902	T	-0.376035	0.36184	T	0.0410627918392547	0.03883	T	0.80032	0.44603	T	0.08940373	0.20888	0.050609626	0.07978	0.08940373	0.20887	0.050609626	0.07978	-3.663	0.18773	T	0.198540064356277	0.26293	0.075	0.05447	B	.	.	1.920467	0.24388	16.38	0.99559109321019845	0.71645	0.73250	0.35833	D	AEFBIJ	0.125209	0.24161	N	-0.258030776434696	0.30784	1.719755	-0.237901257197043	0.30190	1.697726	0.770546019552101	0.23664	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.42	1.45	0.21708	0.558000	0.23174	2.323000	0.32147	0.665000	0.62972	0.934000	0.32416	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.3813:0.6187	13.087	0.58562	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1004.63	33	chr8	95247720	.	T	C	1004.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.186;DP=269;ExcessHet=0;FS=0.757;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.325;SOR=0.599	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1015,0,1191	6	0	1	0
chr8	132480670	132480670	-	CC	UTR5	KCNQ3	NM_004519:c.-139_-138insGG	.	.	Seizures, benign neonatal, type 2, Autosomal dominant	75	142	3	2	4	11	0.024055	.	.	.	307908	Benign_Neonatal_Epilepsy|Benign_neonatal_seizures|not_provided	MedGen:C0270851|MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008068	21	26028	rs879019805	0.1321	0.1013	0.1313	0.1330	0.1680	0.1314	0.1311	0.1626	0.1604	0.1407	0.1001	0.1405	0.0618	0.1292	0.1494	0.1314	0.1335	0.1680	0.1700	0.1748	0.1676	0.1725	0.2214	0.1680	0.1672	0.2089	0.2038	0.1562	0.0893	0.1840	0.2043	0.0990	0.1830	0.2250	0.1740	0.1618	0.2214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	197.89	9	chr8	132480670	.	A	ACC	197.89	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=60;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=28.27;ReadPosRankSum=-1.068;SOR=0.527	GT:AD:DP:GQ:PL	0/1:1,6:7:18:208,0,18	6	0	1	0
chr8	132886915	132886915	C	G	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon9:c.C1543G:p.Q515E	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1391	123	8	0	139	0.0475864	.	.	.	253045	Iodotyrosyl_coupling_defect|not_specified|not_provided	MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.092	.	0.0138	0.00958466	0.0164	0.0064	0.0123	0	0.0159	0.0223	0.0243	0.0099	0.0161188	2492	154602	rs180222	0.0187	0.0187	0.0185	0.0190	0.0569	0.0186	0.0185	0.0518	0.0498	0.0062	0.0130	0.0306	7.557e-05	0.0129	0.0569	0.0204	0.0202	0.0103	0.0159	0.0159	0.0162	0.0155	0.0225	0.0153	0.0151	0.0215	0.0212	0.0054	0.0703	0.0166	0.0294	0	0.0121	0.0612	0.0225	0.0246	0.0091	0.529	0.07048	T	0.178	0.29639	T	0.0	0.02946	B	0.001	0.04355	B	0.013319	0.01361	N	4.456960	1	0.08975	N	0	0.06538	N	0.02	0.62318	T	-0.27	0.11366	N	0.039	0.01274	-1.0727	0.08830	T	0.038	0.16419	T	10	0.004487753	0.00092	T	.	.	.	0.092	0.26621	.	.	.	.	0.1446695506701495	0.14389	0.0749600561829	0.08408	0.222273439169	0.01445	T	0.019309	0.15408	T	-0.637211	0.00087	T	-0.670501	0.07577	T	0.00230050772965309	0.00024	T	0.305369	0.05850	T	0.032198455	0.03201	0.044108815	0.05641	0.032198455	0.03201	0.044108815	0.05641	-2.623	0.06680	T	0.10965937410994783	0.09179	0.063	0.01470	B	.	.	-0.826542	0.01056	0.045	0.15352636884024728	0.00372	0.09759	0.15442	N	AEFBI	0.164899	0.29134	N	-1.15088584085777	0.05765	0.2636861	-1.17613165090732	0.06310	0.3033476	0.0761118644700982	0.15717	0.553676	0.25195	0	0.59043	0.45803	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.89	-1.81	0.07456	-0.087000	0.11181	-2.101000	0.04211	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.2637:0.1562:0.354:0.2261	0.558	0.00629	850	0.35610	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.063948	0.070707	0.057065	0.070175	0.050000	0.086207	0.079268	0.053030	0.07143	738.53	35	chr8	132886915	.	C	G	738.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.762;DP=261;ExcessHet=0;FS=2.725;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.24;ReadPosRankSum=1.44;SOR=1.061	GT:AD:DP:GQ:PL	0/1:66,36:102:99:749,0,1752	6	0	1	0
chr8	143727792	143727792	C	A	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon5:c.G1669T:p.G557C	Amelogenesis imperfecta, type III, Autosomal dominant	9	1502	10	1	0	12	0.00397878	.	.	.	790784	not_provided|Amelogenesis_imperfecta,_hypocalcification_type|FAM83H-related_disorder	MedGen:C3661900|MONDO:MONDO:0968955,MedGen:C0399376,Orphanet:100032,Orphanet:88661|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.073	.	.	0.000199681	0.0057	0	0	0	.	0.0357	0	0.0022	0.0004528	70	154602	rs312262803	0.0027	0.0024	0.0026	0.0027	0.0044	0.0026	0.0026	0.0028	0.0028	0.0005	0.0021	0.0034	0	0.0017	0.0044	0.0029	0.0025	0.0016	0.0018	0.0018	0.0017	0.0018	0.0027	0.0016	0.0015	0.0024	0.0023	0.0005	0	0.0016	0.0026	0	0.0014	0.0068	0.0027	0.0028	0.0010	0.004	0.65419	D	0.033	0.53072	D	0.985	0.61118	D	0.628	0.51677	P	0.003643	0.00976	U	490.647000	0.999478	0.21134	N	2.24	0.63355	M	2.42	0.15376	T	-2.33	0.51646	N	0.385	0.42639	-1.0119	0.26322	T	0.054	0.22808	T	10	0.0055520833	0.00123	T	.	.	.	0.073	0.21317	.	.	0.043077524339	0.03247	0.2261153594599419	0.22526	1.00671276343	0.74603	0.878267168999	0.93726	D	0.097161	0.39971	T	-0.487841	0.00668	T	-0.467976	0.25735	T	0.0575124000905681	0.06771	T	.	.	.	0.17884576	0.38926	0.091350354	0.21473	0.17884576	0.38926	0.091350354	0.21473	-6.66	0.51508	T	.	.	0.175	0.38227	B	.	.	2.426817	0.31214	18.67	0.99383089065726871	0.61979	0.28214	0.23492	N	AEFDBCI	0.158577	0.28425	N	-0.229335003188708	0.31936	1.795754	-0.361278780663449	0.26162	1.443272	0.998224208389481	0.36603	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.32	2.03	0.25714	1.882000	0.39283	.	.	0.489000	0.22316	0.930000	0.32276	0.737000	0.26456	0.007000	0.07825	0.0:0.7073:0.0:0.2927	8.641	0.33140	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004373	0.000000	0.000000	0.008000	0.055556	0.013889	0.008197	0.000000	0.08333	178.27	18	chr8	143727792	.	C	A	178.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.165;DP=115;ExcessHet=0;FS=2.128;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.833;SOR=1.402	GT:AD:DP:GQ:PL	0/1:13,7:20:99:188,0,351	5	0	1	1
chr8	143923335	143923335	G	A	exonic	PLEC	.	synonymous SNV	PLEC:NM_201378:exon31:c.C6552T:p.T2184T,PLEC:NM_201379:exon31:c.C6528T:p.T2176T,PLEC:NM_201380:exon31:c.C7005T:p.T2335T,PLEC:NM_201381:exon31:c.C6498T:p.T2166T,PLEC:NM_201382:exon31:c.C6594T:p.T2198T,PLEC:NM_201383:exon31:c.C6606T:p.T2202T,PLEC:NM_201384:exon31:c.C6594T:p.T2198T,PLEC:NM_000445:exon32:c.C6675T:p.T2225T	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	193911	not_specified|not_provided|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0006	0.00159744	0.0013	0	0.0013	0.0001	0	0.0018	0.0040	0.0013	0.0011966	185	154602	rs144242254	0.0013	0.0013	0.0013	0.0013	0.0033	0.0013	0.0012	0.0022	0.0018	0.0005	0.0014	0.0025	0	1.979e-05	0.0033	0.0014	0.0013	0.0012	0.0010	0.0010	0.0010	0.0009	0.0020	0.0008	0.0008	0.0014	0.0012	0.0003	0.0033	0.0020	0.0026	0	0	0.0034	0.0011	0.0038	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.005045	0.000000	0.005450	0.005848	0.000000	0.000000	0.009146	0.003788	0.07143	2959.44	43	chr8	143923335	.	G	A	2959.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.72;DP=525;ExcessHet=0;FS=3.836;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.832;SOR=0.981	GT:AD:DP:GQ:PL	0/1:114,114:228:99:2970,0,2727	6	0	1	0
chr9	894044	894044	A	G	exonic	DMRT1	.	nonsynonymous SNV	DMRT1:NM_001363767:exon3:c.A197G:p.N66S,DMRT1:NM_021951:exon3:c.A671G:p.N224S	.	0	1493	29	0	0	29	0.00961857	.	.	.	244090	Non-obstructive_azoospermia|not_provided	Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	.	0.0016	0.00239617	0.0026	0.0002	0.0012	0.0001	0.0011	0.0015	0.0033	0.0109	0.002348	363	154602	rs140506267	0.0018	0.0018	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0116	0.0001	0.0013	0.0047	5.038e-05	0.0016	0.0061	0.0010	0.0023	0.0124	0.0015	0.0015	0.0013	0.0017	0.0122	0.0013	0.0013	0.0097	0.0088	0.0003	0	0.0019	0.0075	0.0004	0.0014	0.0068	0.0011	0.0028	0.0122	0.001	0.78490	D	0.022	0.69154	D	0.979	0.59044	D	0.679	0.53442	P	0.000000	0.84330	D	0.000000	0.999518	0.47363	D	3.135	0.88152	M	1.84	0.43672	T	-3.78	0.75695	D	0.744	0.89020	-0.7551	0.57668	T	0.176	0.52115	T	10	0.01156497	0.00252	T	.	.	.	0.229	0.52916	.	.	0.587613165634	0.58436	0.33559741074806654	0.33472	0.638416995762	0.57562	0.658247947693	0.61158	T	0.610971	0.87670	D	-0.418298	0.01754	T	-0.363245	0.37677	T	0.0462759055615867	0.04833	T	0.936706	0.76258	D	0.5308503	0.68879	0.56086373	0.74592	0.5545526	0.70210	0.46176293	0.68746	-2.131	0.03719	T	0.2878324403040833	0.38403	0.126	0.37140	B	.;.	.;.	4.233463	0.64133	24.7	0.99889984710269808	0.96436	0.94620	0.61762	D	ALL	0.719920	0.67065	D	0.686505212860892	0.78749	6.934564	0.646738016627212	0.78370	6.862212	0.999999999985881	0.74766	0.520426	0.21595	0	0.573149	0.20659	1	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.92	4.78	0.60666	6.663000	0.74276	9.343000	0.80233	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.9324:0.0:0.0676:0.0	11.922	0.52081	940	0.13648	.;.	.	.	.	.	.	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	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.007576	0.07143	1987.53	34	chr9	894044	.	A	G	1987.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.755;DP=393;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.929;SOR=0.673	GT:AD:DP:GQ:PL	0/1:84,81:165:99:1998,0,2183	6	0	1	0
chr9	2622147	2622155	CGGCGGCGG	-	ncRNA_exonic	VLDLR-AS1	.	.	.	.	134	297	245	137	709	1228	0.466307	.	.	.	274730	not_provided|Congenital_cerebellar_hypoplasia|not_specified	MedGen:C3661900|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3265	0.30631	0.1908	0.1477	0.2045	0.25	0.125	0.2247	0.2105	0.1797	0.0002717	42	154602	rs369552432	0.3801	0.3475	0.3852	0.3748	0.4136	0.3792	0.3788	0.4075	0.4050	0.1944	0.3970	0.2985	0.4136	0.3827	0.2810	0.3964	0.3561	0.2349	0.3293	0.3297	0.3288	0.3298	0.4202	0.3269	0.3259	0.4055	0.4020	0.1981	0.1914	0.4141	0.2980	0.4202	0.3595	0.3483	0.3884	0.3335	0.2385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8772.59	35	chr9	2622146	.	ACGGCGGCGG	A	8772.59	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.396;DP=281;ExcessHet=0;FS=1.454;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=28.03;ReadPosRankSum=-0.138;SOR=0.538	GT:AD:DP:GQ:PL	1/0:2,23:46:99:1710,765,969	1	1	4	1
chr9	2622146	2622146	-	CGG	ncRNA_exonic	VLDLR-AS1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	272060	not_specified|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_1|Congenital_cerebellar_hypoplasia|not_provided	MedGen:CN169374|MONDO:MONDO:0024542,MedGen:C4551552,OMIM:224050,Orphanet:1766|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000,Orphanet:1398,Orphanet:2246|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1638	.	0.3376	0.1818	0.25	0.0139	0.125	0.3308	0.2105	0.3583	0.0206983	3200	154602	rs555425887	0.2927	0.2905	0.2899	0.2955	0.3418	0.2919	0.2915	0.3381	0.3365	0.0877	0.2478	0.3286	0.0443	0.3460	0.2522	0.3019	0.2795	0.3418	0.2545	0.2556	0.2528	0.2563	0.3664	0.2523	0.2515	0.3521	0.3463	0.0964	0.5619	0.2423	0.3682	0.0533	0.3910	0.2345	0.3296	0.2564	0.3664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	8772.59	35	chr9	2622146	.	A	ACGG	8772.59	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.396;DP=281;ExcessHet=0;FS=1.454;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=28.03;ReadPosRankSum=-0.138;SOR=0.538	GT:AD:DP:GQ:PL	0/1:2,21:46:99:1710,870,891	2	1	3	1
chr9	14842660	14842660	C	G	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon9:c.G1394C:p.G465A,FREM1:NM_144966:exon10: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	not_provided|Congenital_diaphragmatic_hernia|Oculotrichoanal_syndrome|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027383	0.015152	0.025815	0.012195	0.000000	0.025862	0.030488	0.049242	0.2857	4164.83	36	chr9	14842660	.	C	G	4164.83	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.28;DP=278;ExcessHet=0.0921;FS=1.94;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=23.4;ReadPosRankSum=0.89;SOR=0.499	GT:AD:DP:GQ:PL	0/1:32,20:52:99:572,0,1109	4	1	2	0
chr9	114406704	114406704	C	T	exonic	WHRN	.	synonymous SNV	WHRN:NM_001346890:exon5:c.G834A:p.P278P,WHRN:NM_001083885:exon9:c.G738A:p.P246P,WHRN:NM_001173425:exon9:c.G1887A:p.P629P,WHRN:NM_015404:exon9:c.G1887A:p.P629P	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	229651	Usher_syndrome_type_2D|WHRN-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_31|not_provided|not_specified	MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886|.|MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000599042	0.0002	0.0007	0	0	0	0.0003	0	0.0003	0.0002652	41	154602	rs143443833	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0004	0.0006	0.0005	0.0008	0.0001	0.0015	0	7.502e-05	0	0.0005	0.0004	0.0001	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0003	0.0006	0	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001512	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1955.44	59	chr9	114406704	.	C	T	1955.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.678;DP=573;ExcessHet=0;FS=2.199;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=-1.303;SOR=0.507	GT:AD:DP:GQ:PL	0/1:61,73:134:99:1966,0,1430	6	0	1	0
chr9	128946673	128946673	G	A	exonic	DOLK	.	nonsynonymous SNV	DOLK:NM_014908:exon1:c.C631T:p.R211C	Congenital disorder of glycosylation, type Im, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	101544	not_provided|DK1-congenital_disorder_of_glycosylation|Cardiovascular_phenotype|not_specified	MedGen:C3661900|MONDO:MONDO:0012556,MedGen:C1835849,OMIM:610768,Orphanet:91131|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.591	0.0357950066277	0.0028	0.00139776	0.0018	0.0013	0.0017	0	0.0006	0.0024	0	0.0011	0.0019146	296	154602	rs145310298	0.0034	0.0034	0.0035	0.0033	0.0041	0.0033	0.0033	0.0040	0.0039	0.0005	0.0022	3.826e-05	0	0.0005	0.0016	0.0041	0.0036	0.0010	0.0023	0.0023	0.0027	0.0019	0.0036	0.0021	0.0020	0.0031	0.0030	0.0009	0	0.0036	0	0	0.0007	0.0068	0.0035	0.0043	0.0006	0.181	0.21884	T	0.148	0.32675	T	0.588	0.38987	P	0.103	0.30945	B	0.006107	0.32266	N	0.248173	1	0.81001	D	2.14	0.59869	M	-2.43	0.88689	D	0.49	0.02993	N	0.245	0.27673	-0.4172	0.71481	T	0.351	0.71454	T	10	0.015254825	0.00320	T	0.035795	0.56579	D	0.591	0.83691	.	.	0.853481155907	0.85206	0.6037860347003077	0.60309	0.507186606807	0.48905	0.581625282764	0.50314	T	0.173423	0.52229	T	-0.153905	0.27703	T	0.0072411	0.70805	D	0.0140418310002991	0.00272	T	0.970903	0.89563	D	0.066901065	0.14438	0.055882383	0.09886	0.066901065	0.14438	0.055882383	0.09885	-4.295	0.28107	T	.	.	0.201	0.42549	B	.	.	4.216870	0.63755	24.6	0.94934467679695023	0.25822	0.88013	0.47759	D	AEFGBCI	0.686747	0.64832	D	-0.0295646826244289	0.40520	2.407741	0.0919525540205277	0.44143	2.701793	0.99999993302508	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.651492	0.60203	0	.	.	5.26	4.36	0.51643	3.346000	0.51907	6.196000	0.54830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1654:0.0:0.8346:0.0	9.095	0.35795	901	0.24189	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	5713.44	33	chr9	128946673	.	G	A	5713.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.62;DP=659;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.436;SOR=0.685	GT:AD:DP:GQ:PL	0/1:231,228:459:99:5724,0,5252	6	0	1	0
chr9	132897614	132897614	A	-	intronic	TSC1	.	.	.	Lymphangioleiomyomatosis;Tuberous sclerosis-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	58145	Tuberous_sclerosis_syndrome|not_provided|Tuberous_sclerosis_1|Hereditary_cancer-predisposing_syndrome|not_specified|Isolated_focal_cortical_dysplasia_type_II	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.342652	0.2827	0.3340	0.2770	0.2973	0.3197	0.2811	0.2717	0.2332	0.0002689	7	26028	rs118203716	0.1067	0.1211	0.1068	0.1066	0.1678	0.1063	0.1061	0.1637	0.1620	0.1678	0.1293	0.1160	0.0999	0.1215	0.1610	0.1053	0.1095	0.0811	0.0585	0.0528	0.0588	0.0581	0.0633	0.0572	0.0567	0.0615	0.0608	0.0601	0.0667	0.0514	0.0821	0.0102	0.0409	0.0750	0.0633	0.0607	0.0347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1334.72	29	chr9	132897613	.	GA	G	1334.72	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.407;DP=357;ExcessHet=2.5225;FS=0.658;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.549;SOR=0.783	GT:AD:DP:GQ:PL	0/1:12,10:34:99:181,0,251	1	0	6	0
chr9	133555922	133555922	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon11:c.C1641T:p.H547H,ADAMTSL2:NM_014694:exon11:c.C1641T:p.H547H	Geleophysic dysplasia 1, Autosomal recessive	4	1025	431	62	0	555	0.213052	.	.	.	317128	Geleophysic_dysplasia_1|not_specified|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0156143	2414	154602	rs7868941	0.1558	0.1558	0.1578	0.1537	0.2226	0.1552	0.1550	0.2120	0.2078	0.1409	0.1034	0.1845	0.0005	0.2171	0.2226	0.1673	0.1555	0.0618	0.1564	0.1566	0.1576	0.1552	0.1741	0.1547	0.1540	0.1715	0.1704	0.1426	0.2357	0.1371	0.1958	0.0010	0.2236	0.2041	0.1741	0.1776	0.0504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	3852.31	64	chr9	133555922	.	C	T	3852.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.515;DP=421;ExcessHet=4.7409;FS=0.376;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.702;SOR=0.732	GT:AD:DP:GQ:PL	0/1:59,42:101:99:976,0,1400	2	0	5	0
chr9	133568420	133568420	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon14:c.C2022T:p.P674P,ADAMTSL2:NM_014694:exon14:c.C2022T:p.P674P	Geleophysic dysplasia 1, Autosomal recessive	0	1140	340	42	0	424	0.156805	.	.	.	508835	Geleophysic_dysplasia_1|not_specified|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0092302	1427	154602	rs534165083	0.1392	0.1391	0.1410	0.1374	0.1524	0.1387	0.1385	0.1518	0.1516	0.0847	0.0821	0.1171	0.0115	0.2030	0.1510	0.1524	0.1308	0.0510	0.1254	0.1256	0.1256	0.1253	0.1561	0.1240	0.1233	0.1537	0.1526	0.0864	0.0439	0.1089	0.1227	0.0039	0.2088	0.1293	0.1561	0.1380	0.0410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	5267.89	33	chr9	133568420	.	C	T	5267.89	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.61;DP=570;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.87;SOR=0.677	GT:AD:DP:GQ:PL	0/1:92,75:167:99:1737,0,1981	4	0	3	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V,ADAMTSL2:NM_014694:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	1	295	703	523	0	1749	0.747755	.	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.6429	9203.22	70	chr9	133569476	.	A	G	9203.22	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-0.495;DP=489;ExcessHet=0.4813;FS=1.214;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=19.54;ReadPosRankSum=0.585;SOR=0.57	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2566,261,0	1	3	3	0
chr9	133573863	133573863	G	A	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon18:c.G2613A:p.V871V,ADAMTSL2:NM_014694:exon18:c.G2613A:p.V871V	Geleophysic dysplasia 1, Autosomal recessive	1	1145	334	42	0	418	0.154357	.	.	.	317138	not_specified|Geleophysic_dysplasia_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0134345	2077	154602	rs62637566	0.1354	0.1354	0.1370	0.1338	0.1550	0.1349	0.1347	0.1471	0.1469	0.0882	0.0810	0.1175	0.0116	0.1984	0.1550	0.1477	0.1287	0.0500	0.1243	0.1245	0.1244	0.1242	0.1520	0.1228	0.1222	0.1496	0.1486	0.0910	0.0570	0.1072	0.1238	0.0039	0.2030	0.1327	0.1520	0.1329	0.0400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2857	5786.35	33	chr9	133573863	.	G	A	5786.35	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.16;DP=479;ExcessHet=0.0921;FS=1.755;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=0.446;SOR=0.804	GT:AD:DP:GQ:PL	1/1:0,118:118:99:3461,354,0	4	1	2	0
chr10	8074278	8074278	-	A	UTR3	GATA3	NM_002051:c.*255_*256insA;NM_001002295:c.*255_*256insA	.	.	Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Autosomal dominant	1265	97	26	134	0	294	0.602459	.	.	.	322826	Hypoparathyroidism,_deafness,_renal_disease_syndrome|not_provided	MONDO:MONDO:0007797,MedGen:C1840333,OMIM:146255,Orphanet:2237|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3839918	0.5994	0.5553	0.6000	0.5988	0.7495	0.5968	0.5957	0.7388	0.7344	0.5196	0.6349	0.6406	0.7495	0.5934	0.6034	0.5826	0.6020	0.6001	0.7439	0.7437	0.7383	0.7496	0.9440	0.7402	0.7387	0.9218	0.9127	0.6481	0.8703	0.8139	0.8267	0.9440	0.7830	0.8082	0.7520	0.7632	0.8348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	676.88	3	chr10	8074278	.	G	GA	676.88	.	AC=9;AF=0.9;AN=10;BaseQRankSum=1.98;DP=37;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.9;MQ=60;MQRankSum=0;QD=22.56;ReadPosRankSum=0.126;SOR=1.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,9:10:2:.:.:225,2,0:.	0	4	1	2
chr10	23193706	23193706	T	C	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon2:c.T787C:p.S263P	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	277	416	362	467	0	1296	0.609023	.	.	.	135501	not_provided|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome|not_specified|Permanent_neonatal_diabetes_mellitus|Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus|Pancreatic_agenesis_2	MedGen:C3661900|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288|MedGen:CN169374|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0010813,MedGen:C1838655,OMIM:600089|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.357	.	0.5108	0.624401	0.5470	0.5697	0.7022	0.8903	0.4327	0.4864	0.5430	0.5350	0.523195	80887	154602	rs7918487	0.4938	0.4962	0.4927	0.4948	0.8378	0.4928	0.4924	0.8302	0.8271	0.5601	0.6724	0.5597	0.8378	0.4417	0.6054	0.4672	0.5268	0.5353	0.5240	0.5241	0.5217	0.5264	0.8799	0.5210	0.5197	0.8585	0.8498	0.5578	0.4215	0.5843	0.5542	0.8799	0.4411	0.6327	0.4725	0.5375	0.5558	0.035	0.43708	D	0.009	0.66756	D	0.022	0.18677	B	0.011	0.15521	B	0.000012	0.62929	N	0.068790	0.00248586	0.43951	P	1.18	0.29980	L	-3.56	0.94869	D	-2.27	0.50666	N	0.06	0.03175	-0.9246	0.44915	T	0.000	0.00011	T	9	7.2453116e-07	0.00003	T	.	.	.	0.357	0.67782	.	.	.	.	0.8029689689293238	0.80250	.	.	0.808061718941	0.83195	D	0.245918	0.61529	T	-0.418964	0.01736	T	-0.230769	0.51698	T	0.0349258213578647	0.02795	T	0.630137	0.24490	T	0.42178693	0.62210	0.62976736	0.78405	0.41815445	0.61969	0.6288712	0.78357	-5.729	0.43950	T	0.22715938275925626	0.30707	0.161	0.35643	B	.	.	3.140397	0.42469	21.5	0.98917447264891534	0.48491	0.98167	0.80181	D	AEFDBCI	0.815195	0.73723	D	-0.175553205708038	0.34153	1.946079	-0.064842511773185	0.36855	2.150201	0.999832780372402	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.34	3.02	0.33970	4.083000	0.57365	2.832000	0.35027	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.500000	0.29017	0.0:0.1441:0.0:0.8559	9.307	0.37045	833	0.38804	.	C10orf67|C10orf67|ARMC3|MSRB2|C10orf67|C10orf67|C10orf67|C10orf67	Nerve_Tibial|Ovary|Pancreas|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Testis|Thyroid	C10orf67	Testis	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0.638469	0.611111	0.634511	0.652047	0.450000	0.637931	0.667683	0.609848	0.7857	3538.65	17	chr10	23193706	.	T	C	3538.65	.	AC=11;AF=0.786;AN=14;BaseQRankSum=1.13;DP=158;ExcessHet=1.1394;FS=1.841;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=23.75;ReadPosRankSum=0.227;SOR=0.526	GT:AD:DP:GQ:PL	0/1:14,22:36:99:679,0,387	0	4	3	0
chr10	69005076	69005076	C	T	exonic	KIFBP	.	nonsynonymous SNV	KIFBP:NM_015634:exon3:c.C556T:p.R186C	.	0	1516	6	0	0	6	0.00197498	.	.	.	207787	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.090	0.0116134492259	.	0.000199681	0.0001	0	0	0	0	7.509e-05	0	0.0005	9.06e-05	14	154602	rs200098813	6.159e-05	6.156e-05	4.358e-05	7.978e-05	0.0007	5.096e-05	4.717e-05	0.0005	0.0005	2.989e-05	0	0	0	0	0.0002	2.159e-05	9.938e-05	0.0007	3.285e-05	3.281e-05	0	6.718e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.176	0.22312	T	0.177	0.29740	T	0.279	0.32056	B	0.004	0.10090	B	0.000031	0.55875	N	0.193241	0.608728	0.30879	N	0	0.06538	N	0.96	0.42888	T	-0.39	0.13611	N	0.173	0.19459	-1.0549	0.13066	T	0.051	0.21611	T	10	0.029938102	0.01119	T	0.011613	0.29407	T	0.090	0.26093	0.329	0.31357	0.215869574891	0.21205	0.20233779559835324	0.20150	0.625028188271	0.56690	0.272708654404	0.06497	T	0.025514	0.19064	T	-0.487937	0.00667	T	-0.582287	0.14342	T	0.0509500982539343	0.05666	T	0.690331	0.31049	T	0.06140189	0.12710	0.047238357	0.06762	0.06140189	0.12709	0.047238357	0.06762	-2.827	0.08435	T	.	.	0.079	0.08851	B	.;.;.	.;.;.	2.247974	0.28711	17.89	0.89516138237541665	0.18863	0.67185	0.33341	D	ALL	0.184487	0.31181	N	-0.641033587634973	0.17721	0.9143173	-0.455348819939227	0.23397	1.275734	0.999999870634786	0.74766	0.730579	0.87903	0	0.637152	0.57089	0	0.630245	0.45026	0	0.648885	0.59868	0	.	.	5.79	3.96	0.45097	1.457000	0.34822	4.000000	0.41065	-2.016000	0.00438	1.000000	0.71638	1.000000	0.68203	0.396000	0.26692	0.0:0.8642:0.0:0.1358	12.611	0.55906	760	0.50470	.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1919.44	33	chr10	69005076	.	C	T	1919.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.02;DP=364;ExcessHet=0;FS=1.159;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=1.22;SOR=0.813	GT:AD:DP:GQ:PL	0/1:98,84:182:99:1930,0,2063	6	0	1	0
chr10	78009682	78009682	G	C	intronic	POLR3A	.	.	.	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal recessive	.	.	.	.	.	.	.	0.2548	0.238	YES	444659	not_specified|not_provided|Neonatal_pseudo-hydrocephalic_progeroid_syndrome|POLR3A-related_disorder|POLR-related_leukodystrophy|Leukoencephalopathy,_ataxia,_hypodontia,_hypomyelination_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009910,MedGen:C0406586,OMIM:264090,Orphanet:3455|MONDO:MONDO:0700276,MedGen:CN378587|MONDO:MONDO:0100605,MedGen:C5679947,Orphanet:289494|MONDO:MONDO:0011897,MedGen:C4706676,OMIM:607694,Orphanet:137639,Orphanet:447893,Orphanet:447896,Orphanet:77295,Orphanet:88637	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0001	0.0002	8.637e-05	0	0	0.0002	0	6.056e-05	0.0001488	23	154602	rs201314157	8.893e-05	8.961e-05	8.167e-05	9.625e-05	0.0002	7.622e-05	7.167e-05	7.948e-05	7.431e-05	5.974e-05	0.0002	3.826e-05	7.557e-05	5.616e-05	0	9.443e-05	4.967e-05	6.956e-05	0.0001	0.0001	8.995e-05	0.0002	0.0002	8.661e-05	7.254e-05	0.0002	0.0001	2.407e-05	0	0	0	0.0002	9.422e-05	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	1505.63	33	chr10	78009682	.	G	C	1505.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.773;DP=317;ExcessHet=0;FS=4.592;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.025;SOR=1.176	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1516,0,1977	6	0	1	0
chr10	87863601	87863601	G	C	upstream	KLLN;PTEN	dist=24	.	.	.	432	1087	1	2	0	5	0.00229463	.	.	.	151663	Glioma_susceptibility_2|Macrocephaly-autism_syndrome|Prostate_cancer|PTEN_hamartoma_tumor_syndrome|Familial_meningioma|VACTERL_with_hydrocephalus|Cowden_syndrome_1|Hereditary_cancer|not_specified|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0013092,MedGen:C2751642,OMIM:613028,Orphanet:182067|MONDO:MONDO:0011537,MedGen:C1854416,OMIM:605309,Orphanet:210548|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331|MONDO:MONDO:0017623,MeSH:D006223,MedGen:C1959582,Orphanet:306498|MONDO:MONDO:0011789,MedGen:C3551915,OMIM:607174,Orphanet:263662|MONDO:MONDO:0010172,MedGen:C1848599,OMIM:276950,Orphanet:3412|MONDO:MONDO:0008021,MedGen:CN072330,OMIM:158350|MedGen:C1333600|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587782133	3.791e-05	1.431e-05	4.283e-05	3.315e-05	0.0016	1.881e-05	1.39e-05	0.0003	0.0001	0	0	0	0	0	0.0016	3.949e-05	0	0.0003	3.288e-05	3.283e-05	2.573e-05	4.035e-05	0.0002	1.261e-05	7.98e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.414e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	121.27	16	chr10	87863601	.	G	C	121.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.389;DP=71;ExcessHet=0;FS=2.463;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.712;SOR=1.144	GT:AD:DP:GQ:PL	0/1:6,6:12:99:131,0,129	5	0	1	1
chr10	90918984	90919001	ATAAATAAATATATATAT	-	intronic	ANKRD1	.	.	.	.	556	191	222	402	151	1177	0.728693	.	.	.	323868	Congenital_total_pulmonary_venous_return_anomaly|ANKRD1-related_dilated_cardiomyopathy|Cardiovascular_phenotype|not_provided|not_specified|ANKRD1-related_disorder|Dilated_Cardiomyopathy,_Dominant	Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|MedGen:CN119551|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|.|MedGen:CN239310	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.6044	0.5463	0.6736	0.6456	0.5899	0.6051	0.6198	0.5607	0.0001153	3	26028	rs72003210	0.5942	0.5613	0.5961	0.5922	0.6772	0.5931	0.5926	0.6701	0.6672	0.5057	0.6772	0.5707	0.5974	0.5946	0.6054	0.5930	0.5917	0.5952	0.4449	0.4284	0.4406	0.4495	0.5009	0.4419	0.4407	0.4934	0.4916	0.2740	0.5442	0.5009	0.4732	0.4252	0.5550	0.4375	0.4980	0.4596	0.4621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5518.63	1	chr10	90918983	.	AATAAATAAATATATATAT	A	5518.63	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.42;DP=181;ExcessHet=0.2119;FS=8.129;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.9;ReadPosRankSum=2.12;SOR=0.132	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,34:65:99:.:.:2814,1312,1201:.	1	0	4	2
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	2692.79	21	chr10	123053169	.	AT	A	2692.79	.	AC=12;AF=0.857;AN=14;BaseQRankSum=-0.229;DP=185;ExcessHet=0.3476;FS=1.039;MLEAC=12;MLEAF=0.857;MQ=60;MQRankSum=0;QD=22.25;ReadPosRankSum=-0.514;SOR=0.876	GT:AD:DP:GQ:PL	0/1:4,13:17:40:292,0,40	0	5	2	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	21	72	439	990	0	2419	0.943816	.	.	.	326978	Maturity-onset_diabetes_of_the_young_type_10|Type_1_diabetes_mellitus_2|Autosomal_recessive_DOPA_responsive_dystonia|Diabetes_mellitus,_permanent_neonatal_4|Transient_Neonatal_Diabetes,_Dominant/Recessive|Diabetes_mellitus_type_1|not_provided|Hyperproinsulinemia|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MedGen:CN239353|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|MedGen:C3661900|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.7857	13545.1	83	chr11	2159830	.	T	G	13545.1	.	AC=11;AF=0.786;AN=14;BaseQRankSum=0.117;DP=679;ExcessHet=1.1394;FS=1.243;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=20.37;ReadPosRankSum=1.65;SOR=0.6	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,68:132:99:.:.:1579,0,1564:.	0	4	3	0
chr11	17386478	17386478	A	G	UTR3	KCNJ11	NM_001166290:c.*441T>C;NM_000525:c.*441T>C;NM_001377297:c.*441T>C;NM_001377296:c.*441T>C	.	.	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	1026	376	50	70	0	190	0.201699	.	.	.	326654	Maturity-onset_diabetes_of_the_young_type_13|Type_2_diabetes_mellitus|not_provided|Diabetes_mellitus,_transient_neonatal,_3|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,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|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	.	.	.	.	.	.	.	.	.	.	.	0.46885	.	.	.	.	.	.	.	.	0.0682527	10552	154602	rs2285676	0.3367	0.1870	0.3337	0.3395	0.5065	0.3296	0.3267	0.4534	0.4328	0.5065	0.3326	0.2651	0.4716	0.2585	0.3667	0.3227	0.3371	0.2928	0.4342	0.4345	0.4324	0.4362	0.5705	0.4315	0.4303	0.5645	0.5619	0.5705	0.3062	0.3914	0.3000	0.5583	0.3666	0.4048	0.3763	0.4028	0.3654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	159.54	.	chr11	17386478	.	A	G	159.54	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.282;DP=18;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=19.94;ReadPosRankSum=0.524;SOR=0.33	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	3	1	1	2
chr11	17386857	17386857	C	T	UTR3	KCNJ11	NM_001166290:c.*62G>A;NM_000525:c.*62G>A;NM_001377297:c.*62G>A;NM_001377296:c.*62G>A	.	.	Diabetes mellitus, transient neonatal, 3, Autosomal dominant;Diabetes, permanent neonatal, with or without neurologic features, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 2, Autosomal recessive;Maturity-onset diabetes of the young, type 13, Autosomal dominant	9	194	657	662	0	1981	0.836218	.	.	.	319487	Diabetes_mellitus,_transient_neonatal,_3|Maturity-onset_diabetes_of_the_young_type_13|Maturity_onset_diabetes_mellitus_in_young|Hyperinsulinemic_hypoglycemia,_familial,_2	MONDO:MONDO:0012522,MedGen:C1864623,OMIM:610582,Orphanet:99886|MONDO:MONDO:0014589,MedGen:C4225365,OMIM:616329,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0011153,MedGen:C2931833,OMIM:601820,Orphanet:276580,Orphanet:276603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.735823	.	.	.	.	.	.	.	.	0.02213	576	26028	rs5213	0.6509	0.6490	0.6528	0.6489	0.9329	0.6497	0.6492	0.9237	0.9199	0.9329	0.6277	0.6666	0.6333	0.5278	0.7238	0.6500	0.6663	0.6293	0.7178	0.7178	0.7241	0.7113	0.9199	0.7143	0.7128	0.9122	0.9090	0.9199	0.5746	0.6767	0.6737	0.6457	0.5344	0.7041	0.6490	0.6958	0.6272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.8571	8772.06	30	chr11	17386857	.	C	T	8772.06	.	AC=12;AF=0.857;AN=14;BaseQRankSum=0;DP=312;ExcessHet=0.3476;FS=0;MLEAC=12;MLEAF=0.857;MQ=60;MQRankSum=0;QD=28.95;ReadPosRankSum=-1.068;SOR=0.825	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2193,216,0	0	5	2	0
chr11	17408375	17408375	T	C	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	7	314	660	541	0	1742	0.735021	.	.	.	167542	not_specified|Maturity_onset_diabetes_mellitus_in_young|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Transitory_neonatal_diabetes_mellitus	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.6088	0.614617	0.6125	0.6167	0.7059	0.7429	0.5248	0.6255	0.6038	0.46	0.601991	93069	154602	rs2106865	0.6116	0.6114	0.6155	0.6077	0.7147	0.6106	0.6101	0.7077	0.7048	0.6184	0.6958	0.6590	0.7147	0.5287	0.6211	0.6176	0.6245	0.4682	0.6174	0.6175	0.6250	0.6094	0.7228	0.6140	0.6127	0.7034	0.6955	0.6148	0.7252	0.6494	0.6653	0.7228	0.5244	0.6918	0.6235	0.6340	0.4757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	728.92	38	chr11	17408375	.	T	C	728.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.614;DP=213;ExcessHet=0.4139;FS=4.855;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=0.846;SOR=1.296	GT:AD:DP:GQ:PL	0/1:34,19:53:99:445,0,894	4	0	2	1
chr11	17414293	17414293	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	703	213	106	500	0	1106	0.721932	.	.	.	1166871	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.904153	.	.	.	.	.	.	.	.	0.865875	22537	26028	rs4148632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8922	0.8921	0.8924	0.8919	0.9655	0.8882	0.8865	0.9576	0.9543	0.9655	0.9134	0.8980	0.8767	0.9122	0.8735	0.8163	0.8525	0.8925	0.8324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	759.85	.	chr11	17414293	.	A	G	759.85	.	AC=7;AF=0.7;AN=10;BaseQRankSum=-1.354;DP=42;ExcessHet=0;FS=0;MLEAC=8;MLEAF=0.8;MQ=60;MQRankSum=0;QD=23.03;ReadPosRankSum=0.481;SOR=0.569	GT:AD:DP:GQ:PL	0/1:8,3:11:74:74,0,262	1	3	1	2
chr11	17414389	17414389	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	87	248	463	724	0	1911	0.793934	.	.	.	1166872	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1|Leucine-induced_hypoglycemia|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.747005	.	.	.	.	.	.	.	.	0.146059	22581	154602	rs4148631	0.7539	0.7531	0.7539	0.7539	0.8624	0.7526	0.7521	0.8546	0.8514	0.5784	0.8469	0.7895	0.8624	0.7273	0.7046	0.7512	0.7604	0.7470	0.7155	0.7155	0.7141	0.7170	0.8819	0.7120	0.7105	0.8605	0.8518	0.5817	0.8136	0.7993	0.7954	0.8819	0.7282	0.7415	0.7540	0.7427	0.7632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1806.31	8	chr11	17414389	.	G	A	1806.31	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.869;DP=132;ExcessHet=2.3007;FS=5.382;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=17.04;ReadPosRankSum=0.276;SOR=1.473	GT:AD:DP:GQ:PL	0/1:23,11:34:99:254,0,654	1	1	4	1
chr11	17414419	17414419	G	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	19	213	530	760	0	2050	0.827948	.	.	.	1166873	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.746605	.	.	.	.	.	.	.	.	0.146842	22702	154602	rs4148630	0.7523	0.7519	0.7521	0.7525	0.8627	0.7511	0.7506	0.8550	0.8518	0.5795	0.8463	0.7888	0.8627	0.7268	0.7049	0.7499	0.7602	0.7471	0.7153	0.7153	0.7139	0.7168	0.8826	0.7118	0.7103	0.8612	0.8524	0.5812	0.8136	0.7993	0.7953	0.8826	0.7283	0.7415	0.7538	0.7427	0.7630	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	2702.67	17	chr11	17414419	.	G	A	2702.67	.	AC=8;AF=0.571;AN=14;BaseQRankSum=-0.719;DP=210;ExcessHet=1.4958;FS=0.661;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.696;SOR=0.807	GT:AD:DP:GQ:PL	0/1:37,18:55:99:483,0,1090	1	2	4	0
chr11	17415389	17415389	A	G	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	6	93	473	950	0	2373	0.927315	.	.	.	1166874	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8933	0.903754	0.8760	0.9698	0.9072	0.9098	0.8748	0.8620	0.8614	0.8369	0.0257799	671	26028	rs4148626	0.8556	0.8554	0.8570	0.8542	0.9669	0.8544	0.8538	0.9580	0.9544	0.9669	0.9065	0.8766	0.8902	0.8652	0.8093	0.8498	0.8683	0.8281	0.8916	0.8915	0.8919	0.8912	0.9632	0.8876	0.8859	0.9553	0.9520	0.9632	0.9134	0.8977	0.8767	0.9121	0.8731	0.8163	0.8526	0.8931	0.8328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	5630.32	33	chr11	17415389	.	A	G	5630.32	.	AC=10;AF=0.714;AN=14;BaseQRankSum=1.02;DP=295;ExcessHet=0.0921;FS=0;MLEAC=10;MLEAF=0.714;MQ=60;MQRankSum=0;QD=22.08;ReadPosRankSum=-0.28;SOR=0.66	GT:AD:DP:GQ:PL	0/1:39,38:77:99:938,0,885	1	4	2	0
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H,ABCC8:NM_001287174:exon12:c.C1686T:p.H562H,ABCC8:NM_001351295:exon12:c.C1686T:p.H562H,ABCC8:NM_001351296:exon12:c.C1683T:p.H561H,ABCC8:NM_001351297:exon12:c.C1683T:p.H561H	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	8	536	705	273	0	1251	0.538528	.	.	.	167532	Permanent_neonatal_diabetes_mellitus|not_provided|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Cerebral_edema|not_specified|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4587	0.429912	0.4311	0.4812	0.3021	0.2844	0.4180	0.4470	0.4546	0.5041	0.426075	65872	154602	rs1799857	0.4459	0.4459	0.4447	0.4471	0.4959	0.4450	0.4446	0.4920	0.4904	0.4747	0.3195	0.4445	0.3087	0.4107	0.4108	0.4535	0.4380	0.4959	0.4417	0.4417	0.4437	0.4395	0.4867	0.4389	0.4377	0.4745	0.4722	0.4801	0.3516	0.3803	0.4438	0.3002	0.4127	0.3537	0.4459	0.4296	0.4867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.414560	0.333333	0.405995	0.438596	0.500000	0.500000	0.393293	0.431298	0.6429	14305.1	100	chr11	17430945	.	G	A	14305.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-0.269;DP=617;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=25.5;ReadPosRankSum=0.118;SOR=0.716	GT:AD:DP:GQ:PL	0/1:59,81:140:99:1886,0,1290	2	4	1	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	Permanent_neonatal_diabetes_mellitus|Diabetes_mellitus,_permanent_neonatal_3|Type_2_diabetes_mellitus|not_provided|not_specified|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|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|MedGen:CN169374|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	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	4688.72	118	chr11	17463424	.	G	A	4688.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.015;DP=459;ExcessHet=1.1394;FS=0.912;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.414;SOR=0.63	GT:AD:DP:GQ:PL	0/1:72,110:182:99:2818,0,1753	4	0	3	0
chr11	17474969	17474969	A	G	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P,ABCC8:NM_001287174:exon2:c.T207C:p.P69P,ABCC8:NM_001351295:exon2:c.T207C:p.P69P,ABCC8:NM_001351296:exon2:c.T207C:p.P69P,ABCC8:NM_001351297: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	1	302	754	465	0	1684	0.736014	.	.	YES	167535	not_provided|Hyperinsulinemia|Hereditary_hyperinsulinism|Hyperinsulinemic_hypoglycemia,_familial,_1|not_specified|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Permanent_neonatal_diabetes_mellitus	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000842,MONDO:MONDO:0002177,MedGen:C0020459|.|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MedGen:CN169374|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885	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	0	1	0.599698	0.671717	0.631793	0.649123	0.550000	0.534483	0.521341	0.564394	0.4286	14186.4	33	chr11	17474969	.	A	G	14186.4	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.869;DP=916;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=-0.712;SOR=0.728	GT:AD:DP:GQ:PL	1/1:0,276:276:99:8072,827,0	3	2	2	0
chr11	64735895	64735895	C	T	intronic	RASGRP2	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.012	.	2102789	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0008	0.000199681	0.0002	0.0017	9.443e-05	0	0	0	0	6.501e-05	0.0001294	20	154602	rs374163992	8.981e-05	9.236e-05	0.0001	6.89e-05	0.0026	7.706e-05	7.249e-05	0.0021	0.0020	0.0026	8.963e-05	0	0	1.877e-05	0.0003	1.442e-05	0.0003	5.809e-05	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0017	0.0016	0.0021	0	0.0004	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	945.53	36	chr11	64735895	.	C	T	945.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.697;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=2.69;SOR=0.693	GT:AD:DP:GQ:PL	0/1:31,42:73:99:956,0,714	6	0	1	0
chr11	65557854	65557854	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.105_106insCTGCTG:p.L35_G36insLL,LTBP3:NM_021070:exon1:c.105_106insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	390556	not_specified|Geleophysic_dysplasia_3|Brachyolmia-amelogenesis_imperfecta_syndrome	MedGen:CN169374|MONDO:MONDO:0054722,MedGen:C4540511,OMIM:617809|MONDO:MONDO:0011018,MedGen:C1832594,OMIM:601216,Orphanet:2899	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0517173	0.0922	0.0185	0.0385	0	0.0234	0.1274	0.1071	0.0908	0.0029172	451	154602	rs535365850	0.1577	0.1430	0.1586	0.1569	0.1715	0.1571	0.1569	0.1708	0.1705	0.0412	0.1142	0.1239	0.0536	0.0926	0.1486	0.1715	0.1411	0.0804	0.1243	0.1253	0.1302	0.1180	0.1808	0.1228	0.1222	0.1781	0.1770	0.0497	0.2698	0.1236	0.1428	0.0282	0.0948	0.2063	0.1808	0.1207	0.0933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2244.09	22	chr11	65557854	.	C	CCAGCAG	2244.09	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.583;DP=235;ExcessHet=0.0921;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=33;ReadPosRankSum=0.289;SOR=1.077	GT:AD:DP:GQ:PL	0/1:9,17:29:99:678,0,306	4	0	3	0
chr11	68406721	68406721	G	A	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_001291902:exon9:c.G256A:p.V86M,LRP5:NM_002335:exon9:c.G1999A:p.V667M	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	0	1301	205	16	0	237	0.0834801	.	.	.	21315	not_specified|Increased_bone_mineral_density|Exudative_vitreoretinopathy_1|Autosomal_dominant_osteopetrosis_1|Exudative_vitreoretinopathy_4|Osteoporosis_with_pseudoglioma|Polycystic_liver_disease_4_with_or_without_kidney_cysts|Worth_disease|Osteoporosis|Bone_mineral_density_quantitative_trait_locus_1|not_provided|Osteogenesis_imperfecta|Retinal_dystrophy	MedGen:CN169374|Human_Phenotype_Ontology:HP:0002796,Human_Phenotype_Ontology:HP:0004350,Human_Phenotype_Ontology:HP:0005711,Human_Phenotype_Ontology:HP:0005741,Human_Phenotype_Ontology:HP:0010738,Human_Phenotype_Ontology:HP:0011001,MONDO:MONDO:0002933,MeSH:D010026,MedGen:C0029464|MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780,Orphanet:891,Orphanet:90050|MONDO:MONDO:0011877,MedGen:C1843330,OMIM:607634,Orphanet:2783|MONDO:MONDO:0011151,MedGen:C1866176,OMIM:601813,Orphanet:891|MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770,Orphanet:2788|MONDO:MONDO:0044327,MedGen:C4693479,OMIM:617875|MONDO:MONDO:0007764,MedGen:C0432273,OMIM:144750,Orphanet:2790|Human_Phenotype_Ontology:HP:0000939,Human_Phenotype_Ontology:HP:0002774,MONDO:MONDO:0005298,MedGen:C0029456,OMIM:166710|MedGen:C1866079,OMIM:601884|MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.552	.	0.0413	0.0183706	0.0377	0.0088	0.0287	0.0001	0.0122	0.0537	0.0442	0.0270	0.0382013	5906	154602	rs4988321	0.0464	0.0465	0.0468	0.0461	0.0954	0.0461	0.0460	0.0888	0.0862	0.0089	0.0348	0.0924	0.0001	0.0130	0.0954	0.0515	0.0457	0.0269	0.0347	0.0347	0.0357	0.0337	0.0517	0.0339	0.0336	0.0502	0.0497	0.0097	0.0395	0.0426	0.0876	0.0004	0.0099	0.1164	0.0517	0.0534	0.0257	0.039	0.42487	D	0.093	0.39799	T	0.993	0.65571	D	0.744	0.55835	P	0.000545	0.43413	U	0.000000	1	0.81001	D	2.42	0.70002	M	-2.96	0.91956	D	-1.32	0.32991	N	0.165	0.17416	0.006	0.82387	D	0.375	0.73302	T	9	0.0044097304	0.00090	T	.	.	.	0.552	0.81485	.	.	.	.	0.7134114975413333	0.71284	0.434265697111	0.43557	0.780145823956	0.78950	T	0.413379	0.76726	T	-0.0600691	0.42896	T	0.179668	0.81976	D	0.0486499542425239	0.05261	T	0.909009	0.67793	D	0.13268982	0.30889	0.16171636	0.37601	0.13268982	0.30888	0.16171636	0.37600	-8.036	0.61316	D	0.2459009221151293	0.33305	0.138	0.30076	B	.	.	4.677049	0.74812	26.2	0.99871326386967618	0.94902	0.98334	0.81734	D	AEFDGBI	0.907886	0.86248	D	0.681822207697314	0.78441	6.87238	0.631390098776899	0.77233	6.639753	0.999999999998874	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.570548	0.19454	0	0.735409	0.98432	0	.	.	4.11	4.11	0.47350	7.867000	0.85489	11.685000	0.94275	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	16.950	0.86112	658	0.62094	.	.	.	.	.	rs4988321	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.075101	0.045455	0.076087	0.119883	0.150000	0.103448	0.091463	0.034091	0.07143	2501.44	38	chr11	68406721	.	G	A	2501.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=410;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-1.367;SOR=0.684	GT:AD:DP:GQ:PL	0/1:98,104:202:99:2512,0,2193	6	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	9	1058	383	72	0	527	0.199395	.	.	YES	18818	Oculocutaneous_albinism_type_1A|Malignant_tumor_of_breast|Oculocutaneous_albinism_type_1|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN|Melanoma,_cutaneous_malignant,_susceptibility_to,_8|Skin/hair/eye_pigmentation_3,_blue/green_eyes|Oculocutaneous_albinism_type_1B|Temperature-sensitive_oculocutaneous_albinism_type_1|Autosomal_recessive_ocular_albinism|Elevated_circulating_hepatic_transaminase_concentration|Albinism|Slow_decrease_in_visual_acuity|Abnormality_of_metabolism/homeostasis|Foveal_hypoplasia|Choroidal_neovascularization|not_provided|Albinism_or_congenital_nystagmus|not_specified	MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0018135,MedGen:C0268494,Orphanet:352731|MedGen:C2677190,OMIM:601800|MONDO:MONDO:0013759,MedGen:C3152204,OMIM:614456,Orphanet:293822|MedGen:C3149136|MONDO:MONDO:0011749,MedGen:C1847024,OMIM:606952,Orphanet:352731,Orphanet:352737,Orphanet:79434|MONDO:MONDO:0018137,MedGen:C1847132,Orphanet:352737|MONDO:MONDO:0040653,MedGen:C0268503|Human_Phenotype_Ontology:HP:0001411,Human_Phenotype_Ontology:HP:0002910,Human_Phenotype_Ontology:HP:0003143,Human_Phenotype_Ontology:HP:0003156,Human_Phenotype_Ontology:HP:0003293,Human_Phenotype_Ontology:HP:0006567,Human_Phenotype_Ontology:HP:0006578,Human_Phenotype_Ontology:HP:0008267,Human_Phenotype_Ontology:HP:0008342,MedGen:C0235996|Human_Phenotype_Ontology:HP:0001022,MONDO:MONDO:0043209,MedGen:C0001916|Human_Phenotype_Ontology:HP:0007652,Human_Phenotype_Ontology:HP:0007924,MedGen:C1853141|Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768|Human_Phenotype_Ontology:HP:0007750,MONDO:MONDO:0044203,MedGen:C2673946,OMIM:PS136520|Human_Phenotype_Ontology:HP:0011506,MONDO:MONDO:0810000,MedGen:C0600518|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|other	.	.	.	.	.	.	.	.	0.695	.	0.2032	0.08127	0.1770	0.0463	0.0916	0.0001	0.1643	0.2648	0.1659	0.0608	0.179804	27798	154602	rs1126809	0.2537	0.2537	0.2597	0.2476	0.2948	0.2530	0.2527	0.2940	0.2937	0.0410	0.1059	0.2429	0.0003	0.1687	0.1920	0.2948	0.2402	0.0686	0.1771	0.1771	0.1855	0.1683	0.2791	0.1753	0.1746	0.2758	0.2744	0.0499	0.2104	0.1593	0.2389	0.0016	0.1587	0.2109	0.2791	0.1856	0.0621	0.029	0.45756	D	0.08	0.41913	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1.73264e-07	0.58761	P	2.33	0.66821	M	-4.81	0.98183	D	-1.82	0.42763	N	0.158	0.16447	-1.7609	0.00000	T	0.001	0.00467	T	8	0.0029481053	0.00048	T	.	.	.	0.695	0.88960	.	.	.	.	0.863477434631447	0.86311	0.0660713889884	0.07370	0.289043188095	0.08784	T	0.826304	0.95806	D	-0.0145316	0.49629	T	0.35017	0.90322	D	0.0174764102512555	0.00483	T	0.885611	0.61095	D	0.5661954	0.70851	0.34258145	0.59982	0.5661954	0.70852	0.34258145	0.59981	-5.31	0.40042	T	0.5023316321969571	0.57735	0.143	0.31381	B	.	.	4.835361	0.78885	27.0	0.99957571441372317	0.99986	0.98215	0.80611	D	AEFGI	0.951836	0.96675	D	0.68763707772779	0.78821	6.949664	0.655048704856478	0.78985	6.988198	0.999827743249958	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	7.561000	0.81256	8.710000	0.78133	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.625	0.87992	894	0.26265	Tyrosinase copper-binding domain	.	.	.	.	rs1126809	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.159341	0.110169	0.144231	0.105263	0.500000	0.258929	0.234127	0.192308	0.3571	2797.71	20	chr11	89284793	.	G	A	2797.71	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.13;DP=206;ExcessHet=0.4813;FS=0.648;MLEAC=5;MLEAF=0.357;MQ=59.89;MQRankSum=0;QD=16.85;ReadPosRankSum=0.225;SOR=0.613	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1311,120,0	3	1	3	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_provided|not_specified|von_Willebrand_disease_type_2|Hereditary_von_Willebrand_disease|von_Willebrand_disease_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022509	348	154602	rs79275181	0.0541	0.1753	0.0514	0.0568	0.1039	0.0537	0.0535	0.0948	0.0912	0.0354	0.0602	0.0362	0.0427	0.0518	0.1039	0.0556	0.0445	0.0580	0.0156	0.0580	0.0139	0.0174	0.0276	0.0150	0.0148	0.0233	0.0217	0.0133	0.0179	0.0169	0.0164	0.0276	0.0176	0	0.0152	0.0178	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3571	812.73	18	chr12	6018369	.	T	G	812.73	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.411;DP=213;ExcessHet=4.7409;FS=6.291;MLEAC=5;MLEAF=0.357;MQ=55.2;MQRankSum=-5.884;QD=4.32;ReadPosRankSum=1.58;SOR=0.36	GT:AD:DP:GQ:PL	0/1:34,9:43:99:100,0,866	2	0	5	0
chr12	6936728	6936728	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1461_1462insCAGCAG:p.Q502_H503insQQ,ATN1:NM_001940:exon5:c.1461_1462insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	207990	Dentatorubral-pallidoluysian_atrophy|not_specified|not_provided	MONDO:MONDO:0007435,MedGen:C0751781,OMIM:125370,Orphanet:101|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021899	57	26028	rs782630098	0.0613	0.0616	0.0612	0.0614	0.1746	0.0609	0.0608	0.1711	0.1697	0.0200	0.0378	0.0348	0.1746	0.0210	0.0600	0.0613	0.0610	0.0697	0.0485	0.0495	0.0497	0.0473	0.1762	0.0476	0.0472	0.1663	0.1623	0.0228	0.0892	0.0464	0.0376	0.1762	0.0205	0.0243	0.0580	0.0408	0.0697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	10575.4	39	chr12	6936728	.	A	ACAGCAG	10575.4	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.681;DP=399;ExcessHet=0.3476;FS=6.639;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=34.22;ReadPosRankSum=0.839;SOR=0.751	GT:AD:DP:GQ:PL	0/1:29,14:45:99:500,0,1095	4	1	2	0
chr12	7190513	7190557	GCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	-	exonic	PEX5	.	nonframeshift deletion	PEX5:NM_001374647:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374648:exon1:c.136_147del:p.E48_S51del,PEX5:NM_001374649:exon1:c.136_147del:p.E48_S51del,PEX5:NM_000319:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131023:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001131024:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131025:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001300789:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351124:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351126:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351128:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351130:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351131:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351132:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351134:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351135:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351136:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351137:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001351138:exon2:c.136_180del:p.V50_A64del,PEX5:NM_001351139:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374645:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001374646:exon2:c.136_147del:p.E48_S51del,PEX5:NM_001131026:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351127:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351133:exon3:c.136_147del:p.E48_S51del,PEX5:NM_001351140:exon3:c.136_147del:p.E48_S51del	Peroxisome biogenesis disorder 2A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 2B, Autosomal recessive;Rhizomelic chondrodysplasia punctata, type 5, Autosomal recessive	0	177	7	42	0	91	0.204494	.	.	.	778118	Peroxisome_biogenesis_disorder_2B|Rhizomelic_chondrodysplasia_punctata_type_5|not_specified|Peroxisome_biogenesis_disorder_2A_(Zellweger)|not_provided	MONDO:MONDO:0008736,MedGen:C3550234,OMIM:202370,Orphanet:44|MONDO:MONDO:0014743,MedGen:C4225237,OMIM:616716,Orphanet:468717|MedGen:CN169374|MONDO:MONDO:0008954,MedGen:C3550273,OMIM:214110,Orphanet:912|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.268e-05	0.0004	0	0	0	1.945e-05	0	0	3.84e-05	1	26028	rs757612863	0.2520	0.2523	0.2418	0.2624	0.7201	0.2513	0.2511	0.7131	0.7102	0.2717	0.3801	0.4508	0.7201	0.5171	0.2871	0.1987	0.3556	0.3579	0.5401	0.6749	0.5600	0.5186	0.6619	0.5362	0.5345	0.6379	0.6282	0.4367	0.4674	0.5855	0.6481	0.6619	0.4898	0.5586	0.6009	0.5226	0.2956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1593.15	6	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	1593.15	.	AC=6;AF=0.429;AN=14;DP=218;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.429;MQ=59.37;QD=30.3;SOR=1.547	GT:AD:DP:GQ:PL	1/1:0,14:14:54:634,54,0	4	3	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2310.01	23	chr12	21174718	.	T	TA	2310.01	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.368;DP=261;ExcessHet=1.4958;FS=0;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=1.71;SOR=0.671	GT:AD:DP:GQ:PL	0/1:19,8:29:99:133,0,374	2	0	5	0
chr12	47845054	47845054	C	A	intronic	VDR	.	.	.	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	84	358	570	510	0	1590	0.689506	.	.	.	1242175	Hepatocellular_carcinoma|not_provided|Vitamin_D-dependent_rickets_type_II_with_alopecia|Periodontitis	Human_Phenotype_Ontology:HP:0001402,Human_Phenotype_Ontology:HP:0002899,Human_Phenotype_Ontology:HP:0003007,Human_Phenotype_Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|MedGen:C3661900|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5622	0.515375	0.5187	0.6234	0.3909	0.2778	0.5489	0.5375	0.5256	0.5796	0.50879	78660	154602	rs7975232	0.5254	0.5252	0.5231	0.5277	0.6365	0.5244	0.5240	0.6294	0.6264	0.6365	0.4233	0.5667	0.3056	0.5525	0.6244	0.5274	0.5314	0.5759	0.5491	0.5493	0.5492	0.5489	0.6267	0.5459	0.5446	0.6203	0.6176	0.6267	0.5894	0.5041	0.5828	0.2901	0.5503	0.5548	0.5281	0.5518	0.5587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	1665.97	9	chr12	47845054	.	C	A	1665.97	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-1.02;DP=78;ExcessHet=1.383;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=21.92;ReadPosRankSum=0.386;SOR=0.749	GT:AD:DP:GQ:PL	0/1:10,9:19:99:285,0,322	0	3	3	1
chr12	47879112	47879112	A	G	exonic	VDR	.	startloss	VDR:NM_001374662:exon2:c.T2C:p.M1?,VDR:NM_000376:exon3:c.T2C:p.M1?,VDR:NM_001017536:exon3:c.T152C:p.M51T,VDR:NM_001374661:exon3:c.T2C:p.M1?,VDR:NM_001017535:exon4:c.T2C:p.M1?	Rickets, vitamin D-resistant, type IIA, Autosomal recessive	6	103	520	893	0	2306	0.917994	.	.	YES	331088	Periodontitis|not_provided|not_specified|Vitamin_D-dependent_rickets_type_II_with_alopecia	Human_Phenotype_Ontology:HP:0000165,Human_Phenotype_Ontology:HP:0000704,Human_Phenotype_Ontology:HP:0006301,MONDO:MONDO:0005076,MedGen:C0031099|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.503	.	0.6732	0.671526	0.6376	0.7880	0.5203	0.5448	0.6403	0.6138	0.6512	0.7671	0.62549	96702	154602	rs2228570	0.6253	0.6253	0.6210	0.6296	0.7904	0.6242	0.6238	0.7824	0.7791	0.7904	0.5345	0.5612	0.5913	0.6341	0.7321	0.6142	0.6362	0.7660	0.6621	0.6625	0.6611	0.6633	0.7801	0.6587	0.6573	0.7730	0.7701	0.7801	0.7368	0.5776	0.5716	0.5697	0.6440	0.6939	0.6163	0.6895	0.7391	0.0	0.91255	D	0.013	0.63109	D	0.289	0.32288	B	0.275	0.40079	B	0.000031	0.55875	D	0.149012	0.989818	0.81001	P	.	.	.	-3.24	0.93882	D	0.36	0.09460	N	0.34	0.38129	-0.9252	0.44829	T	0.000	0.00011	T	8	8.306137e-06	0.00003	T	.	.	.	0.503	0.78538	.	.	.	.	0.3450707945471	0.34421	0.570787460381	0.53228	0.625708281994	0.56536	T	0.324761	0.69555	T	-0.283926	0.10255	T	-0.036796	0.67917	D	0.0963817504551405	0.11954	T	0.9	0.65058	D	0.68792903	0.77399	0.63474244	0.78679	0.6637955	0.76103	0.5718023	0.75203	-7.866	0.60153	D	.	.	0.232	0.46516	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.762546	0.36239	20.2	0.99030006853180141	0.50786	0.91887	0.54478	D	AEFDBI	0.433632	0.49501	N	0.245728946061445	0.53428	3.511683	0.278389843584115	0.54280	3.593452	0.999289017433705	0.39007	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.58	2.89	0.32713	4.354000	0.59193	6.099000	0.53531	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.8342:0.0:0.1658:0.0	9.950	0.40804	884	0.28482	.;.;.;.;.;.;.	RP1-228P16.1	Spleen	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.734642	0.696970	0.716033	0.745614	0.450000	0.810345	0.768293	0.768939	0.7857	5938.36	31	chr12	47879112	.	A	G	5938.36	.	AC=11;AF=0.786;AN=14;BaseQRankSum=0.373;DP=289;ExcessHet=0;FS=1.663;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=24.85;ReadPosRankSum=-1.167;SOR=0.957	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1418,147,0	1	5	1	0
chr12	70353913	70353913	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1622dupA:p.X541delinsX,CNOT2:NM_014515:exon16:c.1622dupA:p.X541delinsX,CNOT2:NM_001199302:exon17:c.1622dupA:p.X541delinsX	.	.	.	.	.	.	.	.	.	.	.	3863882	not_specified|Intellectual_developmental_disorder_with_nasal_speech,_dysmorphic_facies,_and_variable_skeletal_anomalies	MedGen:CN169374|MONDO:MONDO:0032832,MedGen:C5231426,OMIM:618608	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5036	.	0.0016	0	0	0.0006	0.0211	0.0006	0.0029	0.0003	0.0020246	313	154602	rs751341232	0.1382	0.1516	0.1407	0.1355	0.1436	0.1376	0.1374	0.1430	0.1427	0.0908	0.1159	0.1155	0.1150	0.0887	0.1320	0.1436	0.1351	0.1247	0.2431	0.2567	0.2484	0.2366	0.2839	0.2401	0.2389	0.2795	0.2777	0.1744	0.2612	0.1891	0.3065	0.2514	0.1421	0.3182	0.2839	0.2272	0.2056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	259.95	7	chr12	70353913	.	T	TA	259.95	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.524;DP=181;ExcessHet=3.1439;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=-0.303;SOR=0.892	GT:AD:DP:GQ:PL	0/1:6,4:10:30:30,0,77	3	0	2	2
chr12	114684071	114684071	-	GAGA	UTR5	TBX3	NM_016569:c.-872_-871insTCTC;NM_005996:c.-872_-871insTCTC	.	.	Ulnar-mammary syndrome, Autosomal dominant	183	10	1	20	12	53	0.672131	.	.	.	329647	Ulnar-mammary_syndrome|not_provided|TBX3-related_disorder	MONDO:MONDO:0008411,MedGen:C1866994,OMIM:181450,Orphanet:3138|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.531749	.	.	.	.	.	.	.	.	0.000461	12	26028	rs112192237	0.3711	0.0814	0.3707	0.3715	0.4265	0.3674	0.3658	0.4036	0.3945	0.1648	0.4265	0.4241	0.3475	0.3793	0.4067	0.3834	0.3747	0.3964	0.4430	0.4427	0.4419	0.4441	0.6223	0.4401	0.4390	0.6117	0.6074	0.1855	0.3440	0.6223	0.6177	0.4456	0.4555	0.6092	0.5353	0.5029	0.5668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	386.5	.	chr12	114684071	.	G	GGAGA	386.5	.	AC=4;AF=0.667;AN=6;BaseQRankSum=1.04;DP=15;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=60;MQRankSum=0;QD=32.21;ReadPosRankSum=0.524;SOR=1.085	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0	1	2	0	4
chr12	120978819	120978819	C	G	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon1:c.C51G:p.L17L,HNF1A:NM_001306179:exon1:c.C51G:p.L17L	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	2	270	714	536	0	1786	0.767842	.	.	YES	134680	not_provided|Maturity-onset_diabetes_of_the_young_type_3|not_specified|Type_2_diabetes_mellitus|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	MedGen:C3661900|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4175	0.428514	0.4722	0.3467	0.4430	0.3969	0.4887	0.4772	0.5226	0.5739	0.0001537	4	26028	rs1169289	0.4566	0.4566	0.4516	0.4616	0.6297	0.4557	0.4553	0.6126	0.6057	0.3411	0.4475	0.5840	0.4311	0.4803	0.6297	0.4472	0.4625	0.5707	0.4301	0.4302	0.4244	0.4360	0.5691	0.4273	0.4262	0.5513	0.5441	0.3324	0.4382	0.4585	0.5786	0.3892	0.4991	0.6293	0.4561	0.4691	0.5691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.600505	0.586735	0.589674	0.664706	0.400000	0.646552	0.592025	0.595420	0.5833	5498.25	41	chr12	120978819	.	C	G	5498.25	.	AC=7;AF=0.583;AN=12;BaseQRankSum=0.436;DP=401;ExcessHet=0.7136;FS=0.388;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.066;SOR=0.677	GT:AD:DP:GQ:PL	0/1:69,29:98:99:575,0,1707	1	2	3	1
chr12	120994314	120994314	G	C	exonic	HNF1A	.	synonymous SNV	HNF1A:NM_000545:exon4:c.G864C:p.G288G,HNF1A:NM_001306179:exon4:c.G864C:p.G288G	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	960	485	76	0	637	0.24912	.	.	YES	134682	Type_2_diabetes_mellitus|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma	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|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2358	0.18111	0.2788	0.2155	0.4862	0.0010	0.3177	0.3303	0.2558	0.1095	0.0467846	7233	154602	rs56348580	0.2836	0.2840	0.2896	0.2775	0.4254	0.2829	0.2826	0.4203	0.4181	0.2029	0.4254	0.3119	0.0011	0.2745	0.2413	0.3053	0.2696	0.1032	0.2624	0.2624	0.2679	0.2566	0.3670	0.2602	0.2593	0.3590	0.3557	0.2065	0.2297	0.3670	0.3111	0.0035	0.2655	0.2828	0.3009	0.2792	0.1005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.253030	0.277778	0.309783	0.222222	0.250000	0.206897	0.212963	0.162879	0.2143	2840.81	87	chr12	120994314	.	G	C	2840.81	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.57;DP=490;ExcessHet=1.1394;FS=0.828;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=-0.442;SOR=0.639	GT:AD:DP:GQ:PL	0/1:88,67:155:99:1281,0,2484	4	0	3	0
chr12	120997672	120997672	G	A	intronic	HNF1A	.	.	.	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	1	363	726	432	0	1590	0.686528	0	0.002	.	134677	Maturity_onset_diabetes_mellitus_in_young|not_specified|Maturity-onset_diabetes_of_the_young_type_3|not_provided|Type_2_diabetes_mellitus|Nonpapillary_renal_cell_carcinoma	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0010894,MedGen:C1838100,OMIM:600496,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	.	0.2901	0.359625	0.4347	0.1738	0.4572	0.5290	0.4292	0.4231	0.4803	0.5441	0.362634	56064	154602	rs2464195	0.3682	0.3688	0.3624	0.3741	0.5530	0.3674	0.3670	0.5370	0.5305	0.1357	0.4026	0.5062	0.5242	0.3648	0.5530	0.3524	0.3779	0.5169	0.3174	0.3175	0.3086	0.3265	0.5133	0.3150	0.3140	0.4964	0.4896	0.1444	0.3786	0.3918	0.5026	0.4905	0.3844	0.5748	0.3557	0.3706	0.5133	.	.	.	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.047	0.01911	-1.0274	0.21299	T	0.000	0.00011	T	6	2.2227126e-05	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234108	0.60106	T	-0.915089	0.00000	T	-0.943419	0.00283	T	0.0192097227377621	0.00628	T	0.430157	0.11673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.	.	-0.772248	0.01163	0.055	0.57032435668430348	0.05680	0.00885	0.03488	N	AEFDBI	0.146919	0.27048	N	-1.81151059978301	0.00518	0.02228144	-2.09924087502019	0.00187	0.008236552	0.999998004955925	0.74766	0.038988	0.00246	2	0.037452	0.00068	0	0.059349	0.00372	0	0.058706	0.01089	0	.	.	4.49	-8.98	0.00647	-2.145000	0.01382	-2.922000	0.03227	-2.782000	0.00189	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1271:0.2749:0.598:0.0	13.207	0.59229	373	0.84140	.	C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|C12orf43|C12orf43|SPPL3|C12orf43|C12orf43|C12orf43|MLEC|C12orf43|C12orf43	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs2464195	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	10290.5	99	chr12	120997672	.	G	A	10290.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.119;DP=595;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=20.75;ReadPosRankSum=0.472;SOR=0.682	GT:AD:DP:GQ:PL	0/1:78,92:170:99:2184,0,1748	3	2	2	0
chr12	132730335	132730397	CCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	-	intronic	ANKLE2	.	.	.	.	439	456	411	216	0	843	0.480342	.	.	.	791214	Microcephaly_16,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0014730,MedGen:C4225249,OMIM:616681,Orphanet:2512|MedGen:CN517202	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	0.3599	0.3308	0.3572	0.3627	0.3949	0.3590	0.3586	0.3800	0.3740	0.2624	0.3523	0.4405	0.1661	0.4326	0.3949	0.3654	0.3676	0.3689	0.4049	0.4061	0.4063	0.4035	0.4607	0.4022	0.4011	0.4564	0.4546	0.3189	0.5621	0.3897	0.4957	0.1763	0.4643	0.4558	0.4607	0.4041	0.4202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	1198.0	19	chr12	132730334	.	CCCATCCATGACCAACTGCCGTGACCCCAGCAACAGCAACTCTTATACCCAAAACCTCCCCACT	C	1198.0	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.05;DP=145;ExcessHet=2.5225;FS=0.929;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.496;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,14:33:99:.:.:502,0,752:.	3	0	4	0
chr13	24892872	24892872	-	A	intronic	CENPJ	.	.	.	Microcephaly 6, primary, autosomal recessive, Autosomal recessive	29	185	12	0	0	12	0.0314136	.	.	.	190891	Primary_Microcephaly,_Recessive|Seckel_syndrome|not_provided|not_specified	MedGen:CN239428|MONDO:MONDO:0019342,MedGen:C0265202,OMIM:PS210600,Orphanet:808|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1810	0.2316	0.2183	0.2795	0.1006	0.1305	0.1683	0.2814	0.0015752	41	26028	rs565804928	0.1201	0.1868	0.1195	0.1207	0.3056	0.1195	0.1192	0.2994	0.2969	0.2179	0.1888	0.1338	0.3056	0.1215	0.0837	0.1065	0.1325	0.1581	0.0414	0.0401	0.0403	0.0426	0.0894	0.0404	0.0400	0.0823	0.0795	0.0744	0.0291	0.0425	0.0163	0.0894	0.0368	0.0256	0.0203	0.0394	0.0156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	48.79	14	chr13	24892872	.	C	CA	48.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.04;DP=124;ExcessHet=0;FS=12.973;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.48;ReadPosRankSum=-0.64;SOR=0.02	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,4:14:55:.:.:55,0,223:.	5	0	1	1
chr13	50945445	50945445	G	A	exonic	RNASEH2B	.	nonsynonymous SNV	RNASEH2B:NM_001142279:exon7:c.G529A:p.A177T,RNASEH2B:NM_024570:exon7:c.G529A:p.A177T	Aicardi-Goutieres syndrome 2, Autosomal recessive	0	1515	5	2	0	9	0.0029615	.	.	YES	16301	Inborn_genetic_diseases|Aicardi_Goutieres_syndrome|not_provided|Autism_spectrum_disorder|Aicardi-Goutieres_syndrome_2|RNASEH2B-related_disorder|Cerebral_palsy|Abnormality_of_the_nervous_system	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51|MedGen:C3661900|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106|MONDO:MONDO:0012429,MedGen:C3489724,OMIM:610181,Orphanet:51|.|Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789|Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.614	0.221342489028	0.0020	0.000199681	0.0013	0.0002	0.0004	0	0.0002	0.0019	0.0011	0.0013	0.0014165	219	154602	rs75184679	0.0021	0.0021	0.0021	0.0021	0.0024	0.0020	0.0020	0.0024	0.0023	0.0004	0.0009	0.0002	0	7.492e-05	0.0021	0.0024	0.0018	0.0015	0.0015	0.0015	0.0015	0.0014	0.0026	0.0013	0.0012	0.0020	0.0019	0.0003	0	0.0026	0.0003	0	0.0002	0	0.0023	0.0028	0.0008	0.219	0.19023	T	0.196	0.60972	T	0.988	0.62325	D	0.886	0.62898	P	0.000012	0.62929	D	0.148357	0.933693	0.37063	A	2.74	0.80084	M	-3.97	0.96243	D	-1.77	0.41809	N	0.787	0.78356	0.949	0.96385	D	0.921	0.97395	D	9	0.051852375	0.05129	T	0.221342	0.87801	D	0.614	0.84932	.	.	0.892929291226	0.89187	0.38263978777403707	0.38178	0.0592956091036	0.06588	0.465158879757	0.34017	T	0.494471	0.81760	T	0.00436128	0.52254	T	0.231067	0.84721	D	0.0755362726815668	0.09406	T	0.863614	0.55989	D	0.3460739	0.56759	0.2921717	0.55244	0.3015534	0.53044	0.2830488	0.54294	-4.08	0.24994	T	0.218766636552003	0.29465	0.116	0.28435	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.844995	0.37545	20.5	0.99673558120069894	0.78782	0.81897	0.41212	D	AEFBI	0.440385	0.49897	N	0.372666509330446	0.59944	4.178436	0.284531613780402	0.54636	3.628017	0.999567181338769	0.40425	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.78	5.78	0.91418	4.693000	0.61438	7.577000	0.60860	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.892000	0.42986	0.0:0.0:1.0:0.0	17.508	0.87646	847	0.35998	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2119.44	35	chr13	50945445	.	G	A	2119.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.254;DP=367;ExcessHet=0;FS=0.555;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.728;SOR=0.78	GT:AD:DP:GQ:PL	0/1:82,94:176:99:2130,0,1896	6	0	1	0
chr13	113118845	113118845	G	A	exonic	F7	.	nonsynonymous SNV	F7:NM_001267554:exon6:c.G986A:p.R329Q,F7:NM_019616:exon8:c.G1172A:p.R391Q,F7:NM_000131:exon9:c.G1238A:p.R413Q	Factor VII deficiency, Autosomal recessive	0	910	520	92	0	704	0.278922	.	.	YES	27119	not_provided|not_specified|Factor_VII_deficiency|Myocardial_infarction,_decreased_susceptibility_to|Factor_X_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0002244,MeSH:D005168,MedGen:C0015503|.|MONDO:MONDO:0002247,MeSH:D005171,MedGen:C0015519	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	.	0.11	0.138379	0.1341	0.1259	0.1018	0.0533	0.0751	0.1210	0.1437	0.2757	0.125995	19479	154602	rs6046	0.1165	0.1164	0.1107	0.1223	0.2761	0.1160	0.1158	0.2732	0.2720	0.1225	0.1074	0.1911	0.0599	0.0736	0.2135	0.1056	0.1239	0.2761	0.1163	0.1164	0.1162	0.1165	0.2740	0.1149	0.1143	0.2618	0.2568	0.1210	0.1725	0.1158	0.2056	0.0477	0.0697	0.1803	0.1088	0.1317	0.2740	0.228	0.26519	T	0.165	0.30926	T	0.254	0.32525	B	0.005	0.13708	B	0.521729	0.11734	N	0.744753	1	0.08975	P	0.615	0.15706	N	-1.51	0.81399	D	-1.16	0.29727	N	0.085	0.06190	-1.1082	0.03229	T	0.005	0.01688	T	9	0.003981173	0.00077	T	.	.	.	0.188	0.46444	.	.	.	.	0.4174972918572176	0.41665	0.218615771125	0.24401	0.259455680847	0.04827	T	0.414242	0.76786	T	-0.531236	0.00378	T	-0.39204	0.34312	T	0.0032045131440866	0.00034	T	0.60024	0.22396	T	0.28302434	0.51337	0.20696844	0.44935	0.22008178	0.44555	0.15338038	0.36043	-4.203	0.26795	T	0.14956450594880755	0.17500	0.070	0.05060	B	.;.;.	.;.;.	0.864100	0.12365	8.904	0.9372641218980059	0.23653	0.01261	0.04425	N	AEFDBI	0.454247	0.50704	N	-1.30176004106169	0.03655	0.1636765	-1.42064976557785	0.03046	0.1413473	0.992292572482251	0.32788	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.11	-4.6	0.03148	-0.090000	0.11129	-0.358000	0.09695	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.5017:0.0:0.3766:0.1217	5.957	0.18512	988	0.01987	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	F7|F7|F10|F10|F10|F7|F7|F7|F7|F7|F7|F7|F10|F7|F10|F7|F7|F10|F7|F10|F7|F7|F10|F7|F7|F10|F10|F7|F10|F7|F7|F10|F7|F7|F7|F7|F7|F7|F10	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Thyroid	MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L	Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	rs6046	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.189325	0.080808	0.174387	0.211765	0.100000	0.215517	0.189024	0.238636	0.3571	9626.11	126	chr13	113118845	.	G	A	9626.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.82;DP=923;ExcessHet=4.7409;FS=0;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.073;SOR=0.725	GT:AD:DP:GQ:PL	0/1:141,133:274:99:3253,0,3109	2	0	5	0
chr14	45159081	45159082	TA	-	intronic	FANCM	.	.	.	.	112	1082	255	73	0	401	0.156335	.	.	.	254944	not_specified|not_provided|Premature_ovarian_failure_15|Spermatogenic_failure_28|Fanconi_anemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1649	0.118211	0.2866	0.1333	0.3837	0.3597	0.2824	0.2839	0.3018	0.2884	0.0001153	3	26028	rs112326758	0.1122	0.1201	0.1094	0.1149	0.1935	0.1117	0.1115	0.1908	0.1897	0.0401	0.1465	0.1445	0.1311	0.1270	0.1417	0.1046	0.1161	0.1935	0.0911	0.0910	0.0895	0.0928	0.1830	0.0898	0.0893	0.1730	0.1690	0.0383	0.1634	0.1126	0.1321	0.1180	0.1093	0.1103	0.1032	0.1164	0.1830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1062.29	20	chr14	45159080	.	TTA	T	1062.29	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.252;DP=92;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=29.51;ReadPosRankSum=0.694;SOR=0.957	GT:AD:DP:GQ:PL	0/1:7,6:13:99:193,0,225	4	1	1	1
chr14	50915919	50915919	G	A	exonic	PYGL	.	nonsynonymous SNV	PYGL:NM_001163940:exon9:c.C1043T:p.P348L,PYGL:NM_002863:exon10:c.C1145T:p.P382L	Glycogen storage disease VI, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	YES	513344	not_specified|PYGL-related_disorder|Glycogen_storage_disease,_type_VI|not_provided	MedGen:CN169374|.|MONDO:MONDO:0009294,MedGen:C0017925,OMIM:232700,Orphanet:369|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.924	0.340959425409	0.0048	0.00179712	0.0045	0.0012	0.0008	0	0.0030	0.0072	0.0022	0.0016	0.0047671	737	154602	rs143759519	0.0056	0.0056	0.0056	0.0055	0.0067	0.0055	0.0054	0.0066	0.0065	0.0011	0.0013	0.0013	0	0.0033	0.0014	0.0067	0.0041	0.0016	0.0043	0.0043	0.0046	0.0039	0.0076	0.0040	0.0039	0.0070	0.0068	0.0012	0.0121	0.0017	0.0014	0	0.0025	0	0.0076	0.0047	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.38	0.98579	H	-3.34	0.93975	D	-7.89	0.96779	D	0.995	0.99929	0.929	0.96091	D	0.914	0.97153	D	10	0.098901	0.17911	T	0.340959	0.92013	D	0.924	0.98117	.	.	0.996916127999	0.99688	0.9452338491035593	0.94505	0.545350321835	0.51572	0.793032765388	0.80903	T	0.814637	0.95404	D	0.189861	0.72951	D	0.511622	0.94854	D	0.166661954763206	0.18350	T	0.993601	0.97904	D	0.9647362	0.97753	0.90539914	0.95361	0.95915383	0.97195	0.91196984	0.95829	-12.333	0.91398	D	0.7083941485625354	0.78827	0.641	0.70552	P	.;.;.	.;.;.	5.267127	0.88442	29.6	0.99905294881567519	0.97576	0.99350	0.94868	D	AEFGBI	0.930971	0.91907	D	1.10766323443215	0.98274	17.84405	1.01674911766596	0.98926	19.90689	0.999999999999928	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	9.968000	0.99102	11.712000	0.94670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.555	0.91034	364	0.84707	.;.;.	.	.	.	.	rs143759519	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	846.63	35	chr14	50915919	.	G	A	846.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.06;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.093;SOR=0.708	GT:AD:DP:GQ:PL	0/1:47,38:85:99:857,0,1109	6	0	1	0
chr15	33662923	33662923	G	A	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon35:c.G5393A:p.R1798Q,RYR3:NM_001243996:exon35:c.G5393A:p.R1798Q	.	1	1520	1	0	0	1	0.000328839	.	.	.	464846	Epileptic_encephalopathy|not_provided	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	0.0120946163499	0.0005	0.000599042	0.0007	0.0001	0.0009	0	0	0.0010	0.0034	0.0002	0.0007374	114	154602	rs148818748	0.0008	0.0008	0.0008	0.0008	0.0016	0.0008	0.0008	0.0013	0.0011	0.0002	0.0015	0	2.519e-05	0.0002	0.0016	0.0009	0.0007	0.0003	0.0010	0.0010	0.0009	0.0010	0.0032	0.0008	0.0008	0.0025	0.0022	0.0003	0	0.0032	0	0	9.416e-05	0	0.0011	0.0009	0.0004	0.089	0.32141	T	.	.	.	0.89	0.48942	P	0.261	0.39516	B	0.076687	0.21148	N	0.435503	0.727036	0.33678	D	1.32	0.33002	L	-0.65	0.72237	T	-1.68	0.40082	N	0.56	0.58458	-0.5538	0.66642	T	0.190	0.54213	T	10	0.033837706	0.01571	T	0.012095	0.30348	T	0.069	0.20116	.	.	0.627531238784	0.62449	0.24972037225970528	0.24886	0.215774892835	0.24110	0.509281754494	0.40121	T	0.373449	0.73744	T	-0.372084	0.03490	T	-0.313725	0.43257	T	0.0163362692814063	0.00403	T	0.934007	0.75281	D	0.1122082	0.26509	0.08620373	0.19957	0.1122082	0.26509	0.08620373	0.19956	-5.062	0.37505	T	.	.	0.105	0.19316	B	.;.;.;.;.	.;.;.;.;.	3.060710	0.41100	21.3	0.99843135155694984	0.92316	0.94968	0.62960	D	AEFI	0.413851	0.48336	N	0.209972052085901	0.51682	3.347555	0.304552988481508	0.55806	3.743499	0.0326659759501655	0.14066	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	4.98	0.65679	2.296000	0.43245	5.198000	0.47923	0.668000	0.69082	0.885000	0.31090	0.984000	0.30665	0.698000	0.34080	0.078:0.0:0.922:0.0	12.176	0.53490	932	0.16191	.;.;.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1978.53	39	chr15	33662923	.	G	A	1978.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.102;DP=331;ExcessHet=0;FS=3.275;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.508;SOR=0.434	GT:AD:DP:GQ:PL	0/1:54,76:130:99:1989,0,1345	6	0	1	0
chr15	34791308	34791309	CA	-	ncRNA_intronic	LOC101928174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	331628	Left_ventricular_noncompaction_cardiomyopathy|Hypertrophic_cardiomyopathy|ACTC1-related_disorder|Familial_restrictive_cardiomyopathy|Atrial_septal_defect_5|Hypertrophic_cardiomyopathy_11|Dilated_cardiomyopathy_1R|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided|Atrial_septal_defect	Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|.|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210,Orphanet:217635|MONDO:MONDO:0013011,MedGen:C2748552,OMIM:612794,Orphanet:1478|MONDO:MONDO:0012799,MedGen:C2677506,OMIM:612098|MONDO:MONDO:0013261,MedGen:C3150681,OMIM:613424,Orphanet:154,Orphanet:54260|MedGen:CN169374|MedGen:CN239310|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001630,Human_Phenotype_Ontology:HP:0001631,MONDO:MONDO:0006664,MedGen:C0018817,OMIM:PS108800,Orphanet:1478	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878999773	0.0400	0.0650	0.0387	0.0414	0.1059	0.0397	0.0396	0.1026	0.1012	0.1059	0.0429	0.0498	0.0686	0.0444	0.0438	0.0352	0.0462	0.0477	0.0616	0.0637	0.0625	0.0606	0.1227	0.0605	0.0601	0.1197	0.1185	0.1227	0.0508	0.0364	0.0430	0.0340	0.0361	0.0468	0.0408	0.0631	0.0352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	7634.8	29	chr15	34791307	.	TCA	T	7634.8	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.58;DP=701;ExcessHet=2.5225;FS=3.743;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=21.21;ReadPosRankSum=0.754;SOR=0.94	GT:AD:DP:GQ:PL	0/1:38,36:83:99:876,0,784	5	0	2	0
chr15	43206561	43206561	C	T	exonic	EPB42	.	nonsynonymous SNV	EPB42:NM_000119:exon10:c.G1477A:p.G493S,EPB42:NM_001114134:exon10:c.G1387A:p.G463S	Spherocytosis, type 5	0	1502	20	0	0	20	0.00661376	.	.	.	797135	Inborn_genetic_diseases|not_provided|Hereditary_spherocytosis_type_5|EPB42-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0012985,MedGen:C2675192,OMIM:612690,Orphanet:822|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.121	0.0257109032744	0.0005	0.000199681	0.0008	0	0.0007	0	0	0.0010	0.0022	0.0008	0.0007503	116	154602	rs148871144	0.0006	0.0006	0.0005	0.0006	0.0111	0.0006	0.0005	0.0089	0.0081	0.0002	0.0011	0.0025	2.519e-05	7.488e-05	0.0111	0.0005	0.0008	0.0008	0.0006	0.0006	0.0006	0.0005	0.0009	0.0005	0.0004	0.0007	0.0006	4.815e-05	0	0.0004	0.0026	0	0	0.0170	0.0009	0.0005	0.0004	0.293	0.14843	T	0.213	0.26467	T	0.065	0.25584	B	0.011	0.19048	B	0.990152	0.08036	N	0.995724	1	0.08975	N	0.27	0.09956	N	-1.2	0.78537	T	-0.85	0.23156	N	0.101	0.13769	-0.9505	0.40885	T	0.193	0.54579	T	10	0.0067667365	0.00154	T	0.025711	0.48665	D	0.121	0.33580	.	.	0.624960652763	0.62190	0.5285222911597147	0.52776	.	.	0.232114210725	0.02128	T	0.048349	0.27991	T	-0.416961	0.01789	T	-0.422153	0.30827	T	0.0013316192153126	0.00013	T	0.650635	0.26150	T	0.031930875	0.03125	0.034831215	0.02622	0.033536308	0.03591	0.03930634	0.03994	-2.651	0.06901	T	.	.	0.073	0.08417	B	.;.;.;.;.	.;.;.;.;.	-0.375423	0.02306	0.244	0.87960282565715497	0.17611	0.00842	0.03373	N	AEFDGBI	0.073020	0.14591	N	-1.15052622456171	0.05771	0.2639676	-1.15399385048992	0.06696	0.3232007	0.98899341291255	0.31691	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.14	0.118	0.13972	-0.419000	0.07136	0.074000	0.14299	-0.807000	0.03101	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.4874:0.165:0.3476	4.332	0.10507	17	0.98681	.;.;.;.;.	.	.	.	.	.	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	0.009063	0.015152	0.014946	0.002924	0.000000	0.017241	0.000000	0.003788	0.07143	1413.44	34	chr15	43206561	.	C	T	1413.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.376;DP=315;ExcessHet=0;FS=4.608;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.75;SOR=0.388	GT:AD:DP:GQ:PL	0/1:64,60:124:99:1424,0,1462	6	0	1	0
chr15	44564675	44564675	G	A	exonic	SPG11	.	synonymous SNV	SPG11:NM_001160227:exon37:c.C6684T:p.Y2228Y,SPG11:NM_025137:exon39:c.C7023T:p.Y2341Y	Amyotrophic lateral sclerosis 5, juvenile, Autosomal recessive;Charcot-Marie-Tooth disease, axonal, type 2X, Autosomal recessive;Spastic paraplegia 11, autosomal recessive, Autosomal recessive	1	1381	130	10	0	150	0.051511	.	.	YES	49781	Hereditary_spastic_paraplegia_11|not_specified|Hereditary_spastic_paraplegia	MONDO:MONDO:0011445,MedGen:C1858479,OMIM:604360,Orphanet:2822|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0219	0.0117812	0.0201	0.0044	0.0163	0.0002	0.0029	0.0285	0.0277	0.0159	0.0208794	3228	154602	rs80338869	0.0265	0.0265	0.0265	0.0265	0.0466	0.0263	0.0262	0.0421	0.0403	0.0045	0.0202	0.0316	7.559e-05	0.0055	0.0466	0.0298	0.0277	0.0176	0.0189	0.0189	0.0202	0.0176	0.0286	0.0183	0.0181	0.0275	0.0271	0.0052	0.0164	0.0265	0.0294	0.0002	0.0039	0.0306	0.0286	0.0222	0.0203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.043851	0.025253	0.057065	0.055556	0.000000	0.017241	0.030675	0.045455	0.07143	704.83	34	chr15	44564675	.	G	A	704.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=212;ExcessHet=0;FS=1.018;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.6;SOR=0.856	GT:AD:DP:GQ:PL	0/1:24,31:55:99:715,0,454	6	0	1	0
chr15	59256276	59256276	C	T	intronic	MYO1E	.	.	.	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	26	0	7	1489	0	2985	1	0	0	.	971023	not_specified|not_provided|Focal_segmental_glomerulosclerosis_6	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.9775	0.97504	0.9939	0.9331	0.9973	1	1	0.9998	0.9967	0.9999	0.950408	146935	154602	rs4508371	0.9981	0.9980	0.9978	0.9983	1.0000	0.9967	0.9961	0.9983	0.9976	0.9313	0.9973	1.0000	1.0000	1.0000	0.9970	0.9999	0.9960	0.9999	0.9812	0.9812	0.9812	0.9813	1.0000	0.9771	0.9753	0.9934	0.9908	0.9344	1.0000	0.9945	1.0000	1.0000	1.0000	0.9864	0.9997	0.9887	0.9998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	16186.6	59	chr15	59256276	.	C	T	16186.6	.	AC=14;AF=1;AN=14;BaseQRankSum=2.23;DP=606;ExcessHet=0;FS=0;MLEAC=14;MLEAF=1;MQ=60;MQRankSum=0;QD=27.34;ReadPosRankSum=1.07;SOR=0.309	GT:AD:DP:GQ:PL	1/1:0,127:127:99:3409,379,0	0	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	648.83	5	chr15	68207979	.	GACAC	G	648.83	.	AC=5;AF=0.5;AN=10;BaseQRankSum=1.04;DP=23;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=32.44;ReadPosRankSum=-1.645;SOR=1.501	GT:AD:DP:GQ:PL	1/0:0,3:5:70:191,70,75	2	2	1	2
chr15	68207979	68207979	-	AC	UTR3	CLN6	NM_017882:c.*160_*161insGT	.	.	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	323238	not_provided|Neuronal_Ceroid-Lipofuscinosis,_Recessive	MedGen:C3661900|MedGen:CN239323	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.334465	.	.	.	.	.	.	.	.	0.0030352	79	26028	rs138882836	0.3617	0.3201	0.3572	0.3657	0.5137	0.3603	0.3597	0.5067	0.5038	0.1449	0.3834	0.3623	0.5137	0.3802	0.3685	0.3407	0.3479	0.4469	0.3749	0.3760	0.3645	0.3859	0.7752	0.3723	0.3712	0.7549	0.7466	0.1625	0.5408	0.4370	0.4553	0.7752	0.4773	0.4041	0.4204	0.3920	0.6213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	648.83	5	chr15	68207979	.	G	GAC	648.83	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.04;DP=23;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=32.44;ReadPosRankSum=-1.645;SOR=1.501	GT:AD:DP:GQ:PL	0/1:0,2:5:70:191,126,120	2	1	2	2
chr15	68229551	68229551	C	T	exonic	CLN6	.	nonsynonymous SNV	CLN6:NM_017882:exon1:c.G34A:p.A12T	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	15	1497	10	0	0	10	0.00332889	.	.	.	140505	Ceroid_lipofuscinosis,_neuronal,_6A|Inborn_genetic_diseases|not_provided|Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type)|Neuronal_ceroid_lipofuscinosis|not_specified	MONDO:MONDO:0011144,MedGen:C5551375,OMIM:601780,Orphanet:168491,Orphanet:228363|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008768,MedGen:C5561927,OMIM:204300|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.532	.	.	0.00339457	0.0050	0.0170	0	0	.	0.0111	0.0085	0.0028	0.0015653	242	154602	rs112239768	0.0165	0.0153	0.0171	0.0159	0.0192	0.0163	0.0162	0.0190	0.0189	0.0023	0.0066	0.0074	3.541e-05	0.0059	0.0032	0.0192	0.0137	0.0029	0.0104	0.0104	0.0112	0.0095	0.0179	0.0100	0.0098	0.0171	0.0167	0.0033	0	0.0065	0.0084	0	0.0066	0.0034	0.0179	0.0076	0.0021	0.059	0.91255	T	0.0	0.92824	D	0.03	0.20002	B	0.025	0.20508	B	0.860014	0.08902	N	0.920178	0.520868	0.81001	D	1.155	0.29575	L	-2.89	0.95458	D	-4.0	0.74051	D	0.182	0.21056	0.123	0.84587	D	0.747	0.91384	D	10	0.007892162	0.00179	T	.	.	.	0.532	0.80307	.	.	0.813351781249	0.81159	0.3530132524448475	0.35215	0.0840471645538	0.32864	0.83964240551	0.88040	D	0.223119	0.58718	T	-0.0990618	0.36581	T	0.0998646	0.76899	D	0.0174650892708942	0.00482	T	0.807119	0.46991	T	0.046731014	0.07871	0.06191808	0.12034	0.046731014	0.07870	0.06191808	0.12034	-4.712	0.33549	T	.	.	0.334	0.55487	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.821276	0.23141	15.90	0.99509413198811014	0.68558	0.60523	0.31220	D	ALL	0.141622	0.26384	N	-0.487435487653625	0.22492	1.201357	-0.445955193969849	0.23664	1.291657	0.99999999999981	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	3.28	1.29	0.20717	0.350000	0.19818	0.566000	0.19559	0.438000	0.21043	0.904000	0.31524	0.894000	0.27871	0.314000	0.24830	0.2174:0.5718:0.2108:0.0	6.018	0.18840	714	0.56256	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.007421	0.006849	0.000000	0.000000	0.142857	0.000000	0.026882	0.000000	0.07143	374.63	15	chr15	68229551	.	C	T	374.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.046;DP=169;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.506;SOR=0.804	GT:AD:DP:GQ:PL	0/1:16,17:33:99:385,0,368	6	0	1	0
chr15	69423285	69423285	A	G	exonic	KIF23	.	nonsynonymous SNV	KIF23:NM_001281301:exon6:c.A360G:p.I120M,KIF23:NM_001367804:exon7:c.A690G:p.I230M,KIF23:NM_001367805:exon7:c.A690G:p.I230M,KIF23:NM_004856:exon7:c.A690G:p.I230M,KIF23:NM_138555:exon7:c.A690G:p.I230M	.	440	1074	8	0	0	8	0.00371058	.	.	.	739755	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.543	0.0566998144182	0.0002	0.00179712	0.0011	0	0.0002	0	0	0.0004	0	0.0061	0.0008991	139	154602	rs199679829	0.0006	0.0006	0.0004	0.0008	0.0064	0.0006	0.0005	0.0059	0.0057	3.125e-05	0.0002	3.884e-05	0	0	0.0023	0.0003	0.0006	0.0064	0.0005	0.0005	0.0003	0.0006	0.0079	0.0004	0.0003	0.0059	0.0052	0.0001	0	0.0004	0	0	0	0.0034	0.0003	0	0.0079	0.002	0.72154	D	0.003	0.76473	D	0.848	0.55278	P	0.746	0.55899	P	0.000000	0.84330	D	0.043187	0.999592	0.47742	D	2.215	0.62545	M	-1.25	0.79072	T	-2.41	0.52938	N	0.854	0.86833	-0.3344	0.74006	T	0.429	0.77127	T	10	0.010502368	0.00233	T	0.057	0.66701	D	0.543	0.80960	.	.	0.917344175841	0.91651	0.5821520425212087	0.58144	0.827125518207	0.67455	0.700353622437	0.67194	T	0.664389	0.89966	D	-0.0924354	0.37675	T	0.0970584	0.76713	D	0.180450450184777	0.19263	T	0.978502	0.92407	D	0.7315655	0.79812	0.6390473	0.78917	0.79989463	0.83900	0.71347857	0.83094	-8.192	0.63431	D	0.6245643271954806	0.69329	0.503	0.67522	A	.;.;.;.;.	.;.;.;.;.	2.560751	0.33167	19.26	0.98387140358111247	0.40915	0.80771	0.40325	D	AEFBI	0.191481	0.31868	N	-0.387665886520299	0.25908	1.409931	-0.522864905616879	0.21533	1.165317	0.999924423205309	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.670488	0.60580	0	0.727631	0.95156	0	.	.	5.53	-3.9	0.03904	0.228000	0.17594	1.567000	0.27393	-0.095000	0.16041	0.963000	0.33788	0.999000	0.35428	0.984000	0.60418	0.203:0.5212:0.0696:0.2062	5.243	0.14801	841	0.37094	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	1385.27	35	chr15	69423285	.	A	G	1385.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.18;DP=285;ExcessHet=0;FS=0.807;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=1.73;SOR=0.871	GT:AD:DP:GQ:PL	0/1:40,52:92:99:1395,0,877	5	0	1	1
chr15	99973383	99973388	TGGGCT	-	UTR3	ADAMTS17	NM_139057:c.*1019_*1014delAGCCCA	.	.	Weill-Marchesani-like syndrome, Autosomal recessive	1266	160	13	83	0	179	0.358717	.	.	.	340315	not_provided|Weill-Marchesani_4_syndrome,_recessive	MedGen:C3661900|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195,Orphanet:363992	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.58726	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs11277519	0.5667	0.0244	0.3750	0.6364	1.0000	0.3611	0.2965	0.2935	0.2192	1.0000	.	0.5000	.	0.5000	.	0.5625	0.5000	.	0.6338	0.6351	0.6333	0.6342	0.6580	0.6304	0.6290	0.6529	0.6507	0.6083	0.6834	0.5772	0.6358	0.5174	0.7472	0.5310	0.6580	0.5885	0.5808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	357.25	4	chr15	99973382	.	CTGGGCT	C	357.25	.	AC=6;AF=1;AN=6;DP=14;ExcessHet=0;FS=0;MLEAC=7;MLEAF=1;MQ=60;QD=30.23;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	0	3	0	4
chr16	3247100	3247100	G	A	exonic	MEFV	.	synonymous SNV	MEFV:NM_001198536:exon4:c.C870T:p.R290R,MEFV:NM_000243:exon5:c.C1503T:p.R501R	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	.	45163	Autoinflammatory_syndrome|Acute_febrile_neutrophilic_dermatosis|not_specified|Familial_Mediterranean_fever,_autosomal_dominant|Familial_Mediterranean_fever|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|MedGen:CN169374|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0030	0.0279553	0.0121	0.0037	0.0030	0.1051	0.0003	0.0036	0.0110	0.0143	0.0118239	1828	154602	rs76464258	0.0066	0.0066	0.0064	0.0068	0.0877	0.0065	0.0065	0.0853	0.0843	0.0035	0.0039	0.0179	0.0877	0.0003	0.0081	0.0029	0.0147	0.0150	0.0087	0.0087	0.0080	0.0093	0.1007	0.0083	0.0081	0.0936	0.0908	0.0043	0.0274	0.0117	0.0173	0.1007	9.416e-05	0.0102	0.0034	0.0147	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.013595	0.030303	0.006793	0.008772	0.000000	0.000000	0.006098	0.026515	0.07143	2413.45	82	chr16	3247100	.	G	A	2413.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.002;DP=686;ExcessHet=0;FS=0.564;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=-0.155;SOR=0.643	GT:AD:DP:GQ:PL	0/1:74,98:172:99:2424,0,1703	6	0	1	0
chr16	3249468	3249468	C	T	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_001198536:exon2:c.G590A:p.R197Q,MEFV:NM_000243:exon3:c.G1223A:p.R408Q	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	0	1477	44	1	0	46	0.0153333	.	.	YES	17591	Inborn_genetic_diseases|Familial_Mediterranean_fever|not_specified|not_provided|Autoinflammatory_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	.	0.0057	0.0171725	0.0130	0.0042	0.0043	0.0541	0.0153	0.0097	0.0190	0.0144	0.0125354	1938	154602	rs11466024	0.0099	0.0099	0.0097	0.0101	0.0497	0.0098	0.0097	0.0479	0.0472	0.0041	0.0056	0.0301	0.0497	0.0140	0.0133	0.0074	0.0162	0.0152	0.0115	0.0115	0.0106	0.0125	0.0550	0.0111	0.0109	0.0498	0.0477	0.0047	0.0274	0.0157	0.0337	0.0550	0.0121	0.0306	0.0093	0.0166	0.0176	0.235	0.18000	T	0.268	0.24477	T	0.259	0.31472	B	0.045	0.24526	B	0.923697	0.07492	N	1.038830	1	0.08975	N	0.735	0.18861	N	0.95	0.43279	T	-1.02	0.27876	N	0.063	0.03502	-1.0403	0.17223	T	0.013	0.05273	T	9	0.00421834	0.00084	T	.	.	.	0.035	0.08770	.	.	.	.	0.1480056526240582	0.14722	0.143352020997	0.16180	0.187196582556	0.00179	T	0.225157	0.58980	T	-0.593918	0.00159	T	-0.578785	0.14653	T	0.00138981036744195	0.00014	T	0.49475	0.16094	T	0.037591994	0.04850	0.054800026	0.09493	0.038826443	0.05246	0.037714183	0.03484	-8.273	0.63712	D	.	.	0.094	0.15115	B	.;.;.;.	.;.;.;.	0.981175	0.13585	10.12	0.89134234003538337	0.18540	0.03690	0.08964	N	AEFDBI	0.146106	0.26948	N	-1.27601589820716	0.03966	0.178151	-1.34336738140196	0.03884	0.1821227	0.999321037669829	0.39149	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.35	-2.48	0.06052	-0.571000	0.05979	.	.	-1.081000	0.01566	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.0:0.3822:0.0:0.6178	10.011	0.41155	794	0.45591	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;.;.	.	.	.	.	rs11466024	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	.	.	.	.	.	.	.	.	0.07143	858.63	36	chr16	3249468	.	C	T	858.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.054;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.292;SOR=0.769	GT:AD:DP:GQ:PL	0/1:39,36:75:99:869,0,960	6	0	1	0
chr16	3249586	3249586	G	A	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_001198536:exon2:c.C472T:p.P158S,MEFV:NM_000243:exon3:c.C1105T:p.P369S	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	0	1479	42	1	0	44	0.0146569	.	.	YES	17590	Inborn_genetic_diseases|Familial_Mediterranean_fever|not_specified|not_provided|Autoinflammatory_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.242	.	0.0056	0.0201677	0.0142	0.0040	0.0047	0.0716	0.0155	0.0097	0.0188	0.0147	0.0137644	2128	154602	rs11466023	0.0103	0.0103	0.0101	0.0105	0.0621	0.0102	0.0101	0.0601	0.0593	0.0041	0.0057	0.0302	0.0621	0.0140	0.0132	0.0074	0.0178	0.0156	0.0122	0.0122	0.0112	0.0133	0.0729	0.0118	0.0116	0.0669	0.0645	0.0046	0.0274	0.0161	0.0337	0.0729	0.0121	0.0306	0.0094	0.0175	0.0180	0.036	0.43393	D	0.08	0.49120	T	0.959	0.55135	D	0.503	0.47728	P	0.001529	0.38731	N	0.118471	1	0.08975	N	1.63	0.41750	L	0.49	0.55775	T	-3.91	0.78553	D	0.137	0.13484	-0.9942	0.31512	T	0.016	0.06569	T	9	0.0018258095	0.00024	T	.	.	.	0.242	0.54781	.	.	.	.	0.2528296790470378	0.25196	0.458817244897	0.45486	0.332307219505	0.15283	T	0.515925	0.82978	D	-0.357339	0.04282	T	-0.219263	0.52807	T	0.0346247206697671	0.02744	T	0.791921	0.43319	T	0.08763667	0.20415	0.13715924	0.32792	0.0876844	0.20428	0.13222286	0.31734	-2.711	0.10820	T	.	.	0.091	0.16800	B	.;.;.;.	.;.;.;.	2.648742	0.34483	19.64	0.99688279629768983	0.79775	0.14461	0.18415	N	AEFBI	0.224295	0.34854	N	-0.418468547163643	0.24821	1.343001	-0.560443380227226	0.20528	1.10644	0.991550087581218	0.32528	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.22	1.12	0.19700	1.688000	0.37308	.	.	0.676000	0.76740	0.937000	0.32526	0.900000	0.27958	0.949000	0.49496	0.3542:0.0:0.6458:0.0	7.200	0.25053	794	0.45591	.;.;.;.	.	.	.	.	.	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	0.019134	0.045455	0.008152	0.026316	0.000000	0.017241	0.006098	0.034091	0.07143	1017.49	36	chr16	3249586	.	G	A	1017.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.17;DP=257;ExcessHet=0;FS=0.845;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.823;SOR=0.62	GT:AD:DP:GQ:PL	0/1:41,39:80:99:1028,0,954	6	0	1	0
chr16	8811139	8811139	C	T	exonic	PMM2	.	synonymous SNV	PMM2:NM_000303:exon5:c.C408T:p.C136C	Congenital disorder of glycosylation, type Ia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	437999	PMM2-congenital_disorder_of_glycosylation|not_provided	MONDO:MONDO:0008907,MedGen:C0349653,OMIM:212065,Orphanet:79318|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	0.0001	0	0	0	0	6.422e-05	0	0.0003	3.23e-05	5	154602	rs371694616	1.755e-05	2.736e-05	9.731e-06	2.551e-05	0.0003	1.204e-05	1.018e-05	0.0002	0.0002	0	0	0	0	0	0	9.18e-07	1.701e-05	0.0003	6.568e-06	6.567e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	806.45	34	chr16	8811139	.	C	T	806.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.714;DP=291;ExcessHet=0;FS=2.771;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-0.221;SOR=0.734	GT:AD:DP:GQ:PL	0/1:52,39:91:99:817,0,1319	6	0	1	0
chr16	23445970	23445970	A	-	intronic	COG7	.	.	.	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	334369	not_provided|Congenital_disorder_of_glycosylation|COG7_congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3899	0.3803	0.3566	0.3682	0.4249	0.3932	0.3811	0.3995	0.0002587	40	154602	rs71379679	0.3540	0.3620	0.3514	0.3567	0.3851	0.3531	0.3528	0.3797	0.3774	0.3470	0.3424	0.3544	0.3851	0.3561	0.3445	0.3513	0.3570	0.3803	0.2121	0.2083	0.2079	0.2167	0.3049	0.2100	0.2092	0.2916	0.2862	0.2187	0.1708	0.1807	0.1672	0.3049	0.2926	0.1352	0.1984	0.2037	0.2610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	709.29	10	chr16	23445969	.	TA	T	709.29	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.553;DP=179;ExcessHet=11.5949;FS=2.736;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=6.82;ReadPosRankSum=0.092;SOR=1.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,7:25:80:0|1:23445969_TA_T:80,0,326:23445969	0	0	6	1
chr16	30721189	30721189	T	C	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon21:c.T3254C:p.V1085A	Floating-Harbor syndrome, Autosomal dominant	0	1521	1	0	0	1	0.000328623	0.0099	0.06	.	1370458	not_provided|Developmental_delay,_hypotonia,_musculoskeletal_defects,_and_behavioral_abnormalities|Floating-Harbor_syndrome|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140,Orphanet:2044|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.318	0.277071188618	7.7e-05	.	4.424e-05	0	0	0	0	7.747e-05	0	0	3.23e-05	5	154602	rs200083101	4.483e-05	4.446e-05	5.069e-05	3.888e-05	0.0005	3.604e-05	3.283e-05	0.0001	7.628e-05	0	0	0	0	0	0.0005	5.427e-05	3.339e-05	0	5.909e-05	5.905e-05	6.425e-05	5.371e-05	0.0001	3.075e-05	2.209e-05	4.766e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0009	0	0.002	0.72154	D	0.118	0.38016	T	0.984	0.60733	D	0.956	0.69739	D	.	.	.	.	1	0.81001	D	0.345	0.11182	N	-2.72	0.90622	D	-0.76	0.21215	N	0.566	0.62950	0.316	0.87806	D	0.679	0.88903	D	8	0.38998735	0.54821	T	0.277071	0.90095	D	0.318	0.64008	.	.	0.0675242888579	0.06100	0.1493581885449065	0.14857	0.645836694259	0.58019	0.668790280819	0.62665	T	0.032871	0.22674	T	-0.00164758	0.51428	T	-0.0391058	0.67762	D	0.179481085729278	0.19202	T	0.756024	0.38041	T	0.11289432	0.26666	0.15787101	0.36894	0.11289432	0.26665	0.15787101	0.36893	-4.379	0.29271	T	.	.	0.188	0.40457	B	.;.	.;.	3.714085	0.53042	23.3	0.96183305973612898	0.28966	0.84765	0.43853	D	AEFBCI	0.231077	0.35436	N	0.400433757522895	0.61446	4.345873	0.440008840421004	0.64079	4.654892	0.999998005885798	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.36	5.36	0.76624	4.728000	0.61694	6.137000	0.53999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	12.981	0.57968	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1140.49	35	chr16	30721189	.	T	C	1140.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.702;DP=292;ExcessHet=0;FS=1.574;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-2.139;SOR=0.866	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1151,0,1345	6	0	1	0
chr16	50722629	50722629	G	C	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon7:c.G2641C:p.G881R,NOD2:NM_001370466:exon8:c.G2641C:p.G881R,NOD2:NM_022162:exon8:c.G2722C:p.G908R	Blau syndrome, Autosomal dominant	0	1447	69	3	3	78	0.025261	.	.	.	19731	Inflammatory_bowel_disease_1|Blau_syndrome|not_provided|not_specified|Regional_enteritis|Psoriatic_arthritis,_susceptibility_to|Yao_syndrome|Autoinflammatory_syndrome	MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MedGen:C3661900|MedGen:CN169374|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0100232,MedGen:C1835223,OMIM:607507|MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|association	.	.	.	.	.	.	.	.	0.108	.	0.0102	0.00459265	0.0099	0.0013	0.0071	0	0.0026	0.0141	0.0154	0.0083	0.0096894	1498	154602	rs2066845	0.0131	0.0132	0.0130	0.0133	0.0380	0.0130	0.0129	0.0338	0.0323	0.0023	0.0085	0.0423	5.038e-05	0.0029	0.0380	0.0141	0.0135	0.0091	0.0103	0.0104	0.0106	0.0100	0.0147	0.0099	0.0097	0.0139	0.0136	0.0027	0.0022	0.0138	0.0432	0	0.0025	0.0238	0.0147	0.0161	0.0062	0.0	0.91255	D	0.008	0.67890	D	0.998	0.90584	D	0.986	0.76916	D	0.000329	0.45700	D	0.137455	0.999972	0.53665	D	0.985	0.24966	L	0.57	0.54347	T	-5.82	0.88289	D	0.748	0.74735	-0.6961	0.60624	T	0.138	0.45508	T	10	0.010364234	0.00231	T	.	.	.	0.343	0.66488	.	.	.	.	0.5552220685344174	0.55449	0.543973793006	0.51462	0.639326453209	0.58468	T	0.246023	0.61542	T	-0.0755688	0.40431	T	0.135594	0.79259	D	0.0287640030574061	0.01801	T	0.768023	0.39669	T	0.8308712	0.85963	0.8893869	0.94223	0.8272104	0.85711	0.89788145	0.94825	-7.639	0.58582	D	0.7701228907073245	0.85119	0.742	0.79764	P	.;.	.;.	4.687193	0.75062	26.3	0.99930967160495277	0.99387	0.93656	0.58818	D	AEFBI	0.678290	0.64270	D	0.773275856692237	0.84410	8.280031	0.780502591572662	0.88404	9.570225	0.999942795872936	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.91	5.91	0.95240	4.498000	0.60095	9.841000	0.81924	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	15.796	0.78185	679	0.60090	.;.	RP11-327F22.1|RP11-327F22.1|RP11-327F22.1|RP11-327F22.1|RP11-327F22.1	Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Lung|Thyroid	.	.	rs2066845	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	.	.	.	.	.	.	.	.	0.1429	3455.24	34	chr16	50722629	.	G	C	3455.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.702;DP=451;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.8;SOR=0.705	GT:AD:DP:GQ:PL	0/1:85,85:170:99:1934,0,2013	5	0	2	0
chr16	70860121	70860121	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon71:c.G12076A:p.A4026T	Ciliary dyskinesia, primary, 5, Autosomal recessive	1	1068	453	0	0	453	0.174971	.	.	.	2839229	not_specified|Primary_ciliary_dyskinesia_5	MedGen:CN169374|MONDO:MONDO:0012088,MedGen:C1837615,OMIM:608647,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.0225746868454	.	.	.	.	.	.	.	.	.	.	0.0634317	1651	26028	rs11075798	0.0394	0.1019	0.0403	0.0385	0.0885	0.0391	0.0390	0.0854	0.0841	0.0885	0.0553	0.0317	0.0242	0.0367	0.0556	0.0402	0.0356	0.0177	0.0073	0.0345	0.0069	0.0078	0.0166	0.0070	0.0068	0.0154	0.0150	0.0166	0.0027	0.0062	0.0050	0.0056	0.0049	0	0.0037	0.0078	0.0023	0.897	0.02442	T	.	.	.	.	.	.	.	.	.	0.005716	0.32572	U	0.000000	0.804833	0.29071	N	1.76	0.45711	L	5.45	0.00969	T	-1.07	0.27876	N	0.132	0.12770	-0.6743	0.61634	T	0.003	0.01059	T	10	0.1010932	0.18449	T	0.022575	0.45482	T	0.037	0.09474	0.117	0.02508	0.0401082797425	0.02173	0.19250575897775737	0.19168	.	.	0.353295892477	0.18406	T	0.054064	0.29619	T	-0.236823	0.15757	T	-0.577957	0.14727	T	0.767720818519592	0.44303	D	.	.	.	0.0855957	0.19863	0.091075234	0.21393	0.0855957	0.19862	0.091075234	0.21393	-4.298	0.28149	T	.	.	0.096	0.15251	B	.	.	2.662526	0.34688	19.70	0.89959342871089099	0.19254	0.59907	0.31045	D	AEFBI	0.107291	0.21381	N	-0.24189496805192	0.31428	1.762157	-0.118700817344249	0.34636	1.99462	0.999895138418875	0.45129	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	2.34	0.28071	1.133000	0.31043	0.913000	0.22643	0.599000	0.40250	0.843000	0.30332	0.824000	0.27153	0.971000	0.54645	0.1289:0.727:0.0:0.1441	8.319	0.31276	550	0.72197	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	122.63	34	chr16	70860121	.	C	T	122.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.154;DP=341;ExcessHet=0;FS=8.131;MLEAC=1;MLEAF=0.071;MQ=48.14;MQRankSum=-2.319;QD=1.06;ReadPosRankSum=2.93;SOR=1.257	GT:AD:DP:GQ:PL	0/1:98,18:116:99:133,0,2669	6	0	1	0
chr16	88429767	88429767	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G2297A:p.R766Q	Brittle cornea syndrome 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	271013	Ehlers-Danlos_syndrome|Brittle_cornea_syndrome_1|ZNF469-related_disorder|not_specified|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|.|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	0.689879647916	.	.	0.0007	0	0.0072	0	0	0.0017	0	0.0001	0.0002005	31	154602	rs144492145	0.0016	0.0015	0.0015	0.0016	0.0027	0.0015	0.0015	0.0018	0.0017	0.0002	0.0014	0.0006	5.613e-05	6.643e-05	0.0027	0.0018	0.0012	0.0003	0.0011	0.0011	0.0010	0.0013	0.0025	0.0010	0.0009	0.0019	0.0016	0.0002	0	0.0025	0.0006	0	9.414e-05	0	0.0016	0.0014	0.0006	0.814	0.03005	T	0.397	0.15305	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.3	0.06368	T	0.15	0.05310	N	0.057	0.07949	-0.9293	0.44241	T	0.008	0.02884	T	9	0.008688509	0.00197	T	0.68988	0.97445	D	0.010	0.01040	.	.	0.0611884634855	0.05136	0.06980069154279185	0.06918	.	.	0.484836757183	0.36724	T	0.002174	0.01575	T	-0.721642	0.00027	T	-0.815223	0.01551	T	0.0182576048743362	0.00545	T	0.553945	0.19167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05274	B	.;.	.;.	-0.159613	0.03302	0.572	0.96886367183716382	0.31481	0.01370	0.04678	N	AEFDBI	0.035639	0.04621	N	-1.4106909074892	0.02544	0.1124759	-1.4305145795966	0.02951	0.1367589	0.999945635966818	0.47345	0.582742	0.33608	0	0.541556	0.11502	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.63	-0.865	0.10122	-0.592000	0.05841	0.128000	0.15008	-0.292000	0.06281	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.3375:0.0:0.5122:0.1503	5.041	0.13801	.	.	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	1375.53	45	chr16	88429767	.	G	A	1375.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.7;DP=310;ExcessHet=0;FS=4.704;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.326;SOR=0.921	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1386,0,1421	6	0	1	0
chr16	89799647	89799647	A	G	intronic	FANCA	.	.	.	Fanconi anemia, complementation group A, Autosomal recessive	8	1511	3	0	0	3	0.000991736	0.0001	0.002	.	336752	Fanconi_anemia_complementation_group_A|not_provided|Fanconi_anemia|not_specified	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	9.894e-05	0	0.0002	0	0	0.0001	0	0.0001	7.76e-05	12	154602	rs757500718	4.664e-05	4.72e-05	3.141e-05	6.201e-05	0.0016	3.737e-05	3.42e-05	0.0008	0.0006	0	0.0002	0	0	0	0.0016	3.428e-05	9.956e-05	9.285e-05	3.941e-05	3.94e-05	5.138e-05	2.689e-05	0.0002	1.715e-05	1.129e-05	5.285e-05	2.835e-05	4.823e-05	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	1018.53	41	chr16	89799647	.	A	G	1018.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.058;DP=290;ExcessHet=0;FS=2.725;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.427;SOR=1.078	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1029,0,1050	6	0	1	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	388.93	57	chr17	3648932	.	G	C	388.93	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.681;DP=502;ExcessHet=6.1542;FS=343.065;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=0.438;SOR=9.139	GT:AD:DP:GQ:PL	0/1:56,32:97:99:116,0,765	1	0	5	1
chr17	6425710	6425710	C	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033054:exon5:c.G716T:p.R239L,AIPL1:NM_001033055:exon5:c.G725T:p.R242L,AIPL1:NM_001285399:exon6:c.G869T:p.R290L,AIPL1:NM_001285400:exon6:c.G839T:p.R280L,AIPL1:NM_001285401:exon6:c.G833T:p.R278L,AIPL1:NM_001285402:exon6:c.G788T:p.R263L,AIPL1:NM_014336:exon6:c.G905T:p.R302L	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	1	1480	38	3	0	44	0.0146471	.	.	YES	76620	AIPL1-related_disorder|Leber_congenital_amaurosis_1|not_specified|not_provided|Leber_congenital_amaurosis_4	MedGen:CN239169|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	0.0394799728856	0.0005	0.00159744	0.0026	9.768e-05	0.0044	0	0	0.0017	0.0089	0.0087	0.0022898	354	154602	rs62637015	0.0016	0.0016	0.0013	0.0018	0.0094	0.0015	0.0015	0.0088	0.0086	0.0001	0.0040	0.0057	2.519e-05	2.106e-05	0.0090	0.0009	0.0025	0.0094	0.0013	0.0013	0.0012	0.0013	0.0085	0.0011	0.0011	0.0064	0.0057	0.0002	0	0.0031	0.0046	0	0	0.0034	0.0010	0.0052	0.0085	0.214	0.22920	T	0.252	0.32144	T	0.003	0.20130	B	0.006	0.19966	B	0.385035	0.13336	N	0.718610	1	0.81001	D	0.55	0.14455	N	-0.61	0.71779	T	-3.36	0.66549	D	0.086	0.16586	-1.1342	0.01592	T	0.132	0.44445	T	10	0.0067735612	0.00154	T	0.03948	0.58831	D	0.406	0.71869	.	.	0.434045841721	0.43020	0.42811152323532936	0.42728	0.233831914557	0.25922	0.291568279266	0.09150	T	0.257128	0.62812	T	-0.272105	0.11523	T	-0.157804	0.58549	T	0.0625567919696403	0.07565	T	0.337566	0.34567	T	0.20028594	0.41999	0.27257818	0.53170	0.2458464	0.47547	0.2033774	0.44410	-2.613	0.15123	T	0.16614760690030306	0.20640	0.129	0.36214	B	.;.;.;.;.;.	.;.;.;.;.;.	1.465544	0.18885	13.98	0.96059384047437069	0.28588	0.16297	0.19323	N	AEFBI	0.206018	0.33232	N	-0.939645002544192	0.09926	0.4720182	-0.905343940075263	0.11967	0.6129108	6.31791550540901E-5	0.04366	0.428477	0.06694	0	0.547309	0.14657	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.98	-3.89	0.03916	-0.221000	0.09208	-2.386000	0.03819	0.599000	0.40250	0.062000	0.21832	0.000000	0.08366	0.997000	0.79791	0.2438:0.3904:0.0:0.3658	4.532	0.11413	872	0.31118	.;.;.;.;.;.	.	.	.	.	.	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	0.007056	0.005102	0.009511	0.005848	0.000000	0.008621	0.009146	0.007576	0.07143	2009.45	45	chr17	6425710	.	C	A	2009.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.323;DP=379;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.06;SOR=0.735	GT:AD:DP:GQ:PL	0/1:89,91:180:99:2020,0,2051	6	0	1	0
chr17	17236983	17236983	G	A	UTR5	FLCN	NM_001353230:c.-8846C>T;NM_001353231:c.-8846C>T;NM_001353229:c.-8846C>T;NM_144997:c.-8846C>T;NM_144606:c.-8846C>T	.	.	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	1210	212	32	68	0	168	0.283784	.	.	.	343588	not_provided|Colorectal_cancer|Nonpapillary_renal_cell_carcinoma|Birt-Hogg-Dube_syndrome_1|Familial_spontaneous_pneumothorax|Birt-Hogg-Dube_syndrome|FLCN-related_disorder	MedGen:C3661900|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.428315	.	.	.	.	.	.	.	.	0.458737	11940	26028	rs1708629	0.5833	0.0231	0.6667	0.5333	0.5870	0.4146	0.3578	0.4143	0.3564	.	.	.	.	.	.	0.5870	0.5000	.	0.4523	0.4525	0.4452	0.4599	0.6252	0.4495	0.4483	0.6072	0.5999	0.1501	0.6897	0.5279	0.5265	0.6252	0.7318	0.3537	0.5601	0.4360	0.4094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	201.54	6	chr17	17236983	.	G	A	201.54	.	AC=4;AF=0.4;AN=10;DP=14;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.4;MQ=60;QD=25.19;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:48,6,0	3	2	0	2
chr17	18130817	18130817	-	GTGTGT	intronic	MYO15A	.	.	.	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	327557	not_specified|not_provided|Hearing_loss,_autosomal_recessive	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015368	40	26028	rs1491181087	0.0309	0.0429	0.0293	0.0324	0.0457	0.0306	0.0305	0.0438	0.0430	0.0325	0.0356	0.0252	0.0457	0.0557	0.0313	0.0273	0.0398	0.0422	0.1218	0.1291	0.1239	0.1193	0.1398	0.1200	0.1192	0.1370	0.1359	0.1064	0.0505	0.1128	0.0768	0.0783	0.1064	0.1056	0.1398	0.1146	0.1030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3134.63	20	chr17	18130817	.	A	AGTGTGT	3134.63	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.39;DP=513;ExcessHet=0;FS=5.575;MLEAC=3;MLEAF=0.25;MQ=59.99;MQRankSum=0;QD=34.83;ReadPosRankSum=0.047;SOR=2.262	GT:AD:DP:GQ:PL	0/1:0,5:34:37:942,724,751	3	0	3	1
chr17	19909228	19909228	T	C	exonic	AKAP10	.	nonsynonymous SNV	AKAP10:NM_001330152:exon13:c.A1762G:p.I588V,AKAP10:NM_007202:exon14:c.A1936G:p.I646V	.	429	489	464	140	0	744	0.432056	.	.	.	20443	Reclassified_-_variant_of_unknown_significance|AKAP10-related_disorder	.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.120	.	0.4504	0.39397	0.3737	0.5879	0.4229	0.1824	0.3464	0.3790	0.3377	0.2956	0.373016	57669	154602	rs203462	0.3854	0.3855	0.3891	0.3817	0.5952	0.3846	0.3842	0.5883	0.5855	0.5952	0.4193	0.3679	0.2016	0.3461	0.4069	0.3927	0.3889	0.3035	0.4277	0.4279	0.4312	0.4241	0.5838	0.4250	0.4238	0.5777	0.5751	0.5838	0.3626	0.4303	0.3698	0.1901	0.3480	0.4150	0.3766	0.4152	0.2874	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.000000	0.999797	0.20333	P	-2.015	0.00187	N	2.01	0.21291	T	0.31	0.04022	N	0.118	0.10769	-0.9687	0.37468	T	0.000	0.00011	T	9	5.4074975e-05	0.00009	T	.	.	.	0.120	0.33359	.	.	.	.	0.1933210593021231	0.19250	0.178928352935	0.20133	0.692670106888	0.66089	T	0.062406	0.31909	T	-0.636176	0.00088	T	-0.542779	0.18025	T	0.00597241672880667	0.00066	T	0.305869	0.05863	T	0.049374104	0.08756	0.061363425	0.11835	0.049374104	0.08756	0.061363425	0.11835	-1.044	0.01049	T	.	.	0.048	0.00179	B	.;.	.;.	1.819896	0.23127	15.90	0.48678567446506221	0.04082	0.07005	0.13031	N	AEFGBI	0.025493	0.01754	N	-0.652311836236643	0.17393	0.8946286	-0.344221069595134	0.26688	1.475766	0.998595863275224	0.37268	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.88	5.88	0.94564	3.391000	0.52271	5.998000	0.52441	-0.192000	0.09343	0.976000	0.34826	1.000000	0.68203	0.953000	0.50222	0.0:0.9244:0.0:0.0756	12.685	0.56308	587	0.69154	A-kinase anchor protein 10, PKA-binding (AKB) domain;A-kinase anchor protein 10, PKA-binding (AKB) domain	RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|AKAP10|RP11-209D14.2|RP11-78O7.2|AKAP10|RP11-209D14.2|CCDC144CP|RP11-78O7.2|RP11-78O7.2|RP11-78O7.2|CCDC144CP|RP11-78O7.2|USP32P3|RP11-78O7.2|RP11-78O7.2|CCDC144CP|USP32P3|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|RP11-78O7.2|RP11-78O7.2|AKAP10|LGALS9B|KRT16P3|RP11-78O7.2|AKAP10|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|LGALS9B|AKAP10|RP11-78O7.2|AKAP10|SPECC1|CCDC144CP|USP32P3|AKAP10|RP11-78O7.2|RP11-78O7.2|AKAP10|RP11-78O7.2|AKAP10|CCDC144CP|AKAP10|LGALS9B|RP11-78O7.2|AKAP10|RP11-78O7.2|LGALS9B|RP11-209D14.2|CCDC144CP|USP32P3|SRP68P3|NOS2P3|AC008088.4|RP11-78O7.2|AKAP10|CCDC144CP|USP32P3|RP11-209D14.4|AKAP10|LGALS9B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Cortex|Brain_Frontal_Cortex_BA9|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Testis|Testis|Testis|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	AKAP10|CCDC144CP|CCDC144CP|CCDC144CP|CCDC144CP|KRT16P3|CCDC144CP|KRT17P7	Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Esophagus_Mucosa|Testis|Testis	rs203462	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.427923	0.474747	0.483696	0.461988	0.350000	0.431034	0.300613	0.378788	0.2857	4322.57	38	chr17	19909228	.	T	C	4322.57	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.101;DP=336;ExcessHet=0.0921;FS=2.663;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=19.13;ReadPosRankSum=1.38;SOR=0.526	GT:AD:DP:GQ:PL	0/1:40,59:99:99:1292,0,861	4	1	2	0
chr17	21300880	21300880	C	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon5:c.C199T:p.R67W,MAP2K3:NM_145109:exon5:c.C286T:p.R96W,MAP2K3:NM_001316332:exon6:c.C199T:p.R67W	.	430	38	1047	7	0	1061	0.933157	.	.	.	1770503	not_specified|MAP2K3-related_disorder	MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.375	.	.	.	0.4998	0.4999	0.4997	0.4986	0.5	0.4999	0.5	0.4999	0.0238677	3690	154602	rs56216806	0.4983	0.4983	0.4982	0.4985	0.4998	0.4974	0.4970	0.4969	0.4964	0.4981	0.4998	0.4992	0.4996	0.4998	0.4996	0.4980	0.4987	0.4994	0.5000	0.5000	0.5000	0.5000	0.5000	0.4970	0.4958	0.4955	0.4937	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.5000	0.0	0.91255	D	0.043	0.56640	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999999	0.58761	D	2.88	0.83451	M	-0.23	0.66652	T	-4.91	0.82141	D	0.699	0.70351	-0.9444	0.41911	T	0.000	0.00011	T	10	0.0043037534	0.00087	T	.	.	.	0.375	0.69358	.	.	.	.	0.7188625825101859	0.71829	0.606269731864	0.55478	0.820443630219	0.85095	D	0.403427	0.76018	T	0.346235	0.86252	D	0.259566	0.86071	D	0.0378888073466841	0.03313	T	0.914509	0.70203	D	0.8805352	0.89711	0.8318533	0.90306	0.8805352	0.89712	0.8318533	0.90306	-15.158	0.96694	D	.	.	0.905	0.83091	P	.;.;.;.;.	.;.;.;.;.	5.775915	0.93501	33	0.98723007320009115	0.45230	0.81548	0.40929	D	AEFGBCI	0.787610	0.71734	D	0.664275873630775	0.77296	6.647485	0.610880277044446	0.75730	6.36224	0.999999998268304	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	4.716000	0.61607	5.995000	0.52393	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1566:0.8434:0.0:0.0	13.451	0.60626	824	0.40336	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.497986	0.494949	0.501359	0.497076	0.500000	0.500000	0.493902	0.500000	0.5	21752.1	153	chr17	21300880	.	C	T	21752.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.14;DP=1325;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-0.235;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,114:284:99:0|1:21300875_G_T:4198,0,6588:21300875	0	0	7	0
chr17	43125337	43125337	G	A	UTR5	BRCA1	NM_007297:c.-18811C>T;NM_007294:c.-1241C>T;NM_007299:c.-1241C>T;NM_007300:c.-1241C>T	.	.	.	493	1015	12	2	0	16	0.00782014	.	.	.	338575	Breast-ovarian_cancer,_familial,_susceptibility_to,_1|Hereditary_breast_ovarian_cancer_syndrome|not_specified|Malignant_tumor_of_breast|Breast_and/or_ovarian_cancer|not_provided	MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN221562|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	.	0.0008	0	0.0004	7.76e-05	12	154602	rs143160357	0.0008	0.0004	0.0008	0.0009	0.0034	0.0007	0.0007	0.0018	0.0015	0.0001	0.0021	0	0	0.0002	0.0034	0.0008	0.0007	0.0007	0.0008	0.0008	0.0006	0.0010	0.0030	0.0007	0.0006	0.0023	0.0021	4.81e-05	0	0.0030	0	0	0	0.0034	0.0009	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1203.49	35	chr17	43125337	.	G	A	1203.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.058;DP=312;ExcessHet=0;FS=2.543;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=2.15;SOR=0.481	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1214,0,1505	6	0	1	0
chr17	61483613	61483613	-	GTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	339436	not_provided|Coxopodopatellar_syndrome	MedGen:C3661900|MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	791.03	14	chr17	61483613	.	A	AGTGTGTGT	791.03	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=135;ExcessHet=0.0509;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.98;ReadPosRankSum=0.872;SOR=0.277	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,4:7:99:.:.:337,128,113:.	5	0	1	1
chr17	61483613	61483613	-	GTGTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	346649	not_provided|Coxopodopatellar_syndrome	MedGen:C3661900|MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	791.03	14	chr17	61483613	.	A	AGTGTGTGTGTGT	791.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0;DP=135;ExcessHet=0.0509;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=17.98;ReadPosRankSum=0.872;SOR=0.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,3:7:99:.:.:337,170,159:.	4	0	2	1
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	6	48	368	1100	0	2568	0.963964	.	.	.	1182690	not_provided|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.8544	0.794928	0.8441	0.8710	0.6889	0.7366	0.875	0.8428	0.8415	0.8743	0.0001153	3	26028	rs4889991	0.8195	0.8061	0.8183	0.8207	0.8980	0.8182	0.8177	0.8731	0.8630	0.8708	0.5961	0.8636	0.7159	0.8355	0.8980	0.8246	0.8170	0.8429	0.8196	0.8195	0.8222	0.8169	0.8624	0.8158	0.8142	0.8549	0.8519	0.8624	0.8772	0.6669	0.8646	0.6716	0.8401	0.9144	0.8312	0.8078	0.8411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	16208.4	64	chr17	80184264	.	G	A	16208.4	.	AC=13;AF=0.929;AN=14;BaseQRankSum=0.518;DP=610;ExcessHet=0;FS=0;MLEAC=13;MLEAF=0.929;MQ=60;MQRankSum=0;QD=27.52;ReadPosRankSum=-0.566;SOR=0.776	GT:AD:DP:GQ:PL	1/1:0,118:118:99:3780,354,0	0	6	1	0
chr17	80202434	80202434	T	A	UTR3	CARD14	NM_001257970:c.*10T>A	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	3	581	641	245	52	1183	0.49324	.	.	.	390303	not_specified|Psoriasis_2|Pityriasis_rubra_pilaris|not_provided	MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4160	0.35623	0.4195	0.2494	0.2489	0.4706	0.4337	0.4886	0.4391	0.3357	0.411004	63542	154602	rs8069255	0.4789	0.4785	0.4821	0.4756	0.5504	0.4779	0.4775	0.5443	0.5418	0.2463	0.2746	0.4213	0.5504	0.4314	0.4130	0.5079	0.4544	0.3360	0.4042	0.4042	0.4084	0.3999	0.5012	0.4015	0.4004	0.4967	0.4949	0.2537	0.7039	0.3372	0.4129	0.4998	0.4307	0.3946	0.5012	0.4019	0.3226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	5587.69	63	chr17	80202434	.	T	A	5587.69	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.605;DP=413;ExcessHet=8.2628;FS=3.425;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.501;SOR=0.535	GT:AD:DP:GQ:PL	0/1:29,51:80:99:1346,0,749	1	0	6	0
chr17	80205094	80205094	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_024110:exon18:c.C2458T:p.R820W,CARD14:NM_001366385:exon21:c.C2458T:p.R820W	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	50	677	568	227	0	1022	0.430135	.	.	YES	390229	Autoinflammatory_syndrome|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	.	0.4093	0.353035	0.4244	0.2458	0.2536	0.4728	0.4509	0.4913	0.4363	0.3466	0.416469	64387	154602	rs11652075	0.4774	0.4773	0.4804	0.4744	0.5465	0.4765	0.4761	0.5404	0.5379	0.2319	0.2729	0.4216	0.5465	0.4308	0.4053	0.5063	0.4514	0.3424	0.3995	0.3997	0.4035	0.3954	0.4991	0.3969	0.3958	0.4946	0.4928	0.2409	0.7044	0.3346	0.4127	0.4952	0.4305	0.3844	0.4991	0.4020	0.3313	0.004	0.65419	D	0.035	0.52389	D	0.912	0.50421	P	0.17	0.35299	B	0.044886	0.23592	N	0.424901	0.99932	0.21372	P	1.04	0.26193	L	3.41	0.05574	T	-3.87	0.72594	D	0.111	0.10626	-0.9523	0.40573	T	0.000	0.00011	T	9	0.00018051267	0.00010	T	.	.	.	0.108	0.30607	.	.	.	.	0.6907763373857173	0.69017	0.3656648137	0.38159	0.328153610229	0.14655	T	0.159702	0.50324	T	-0.676618	0.00050	T	-0.600871	0.12738	T	0.0284327208824887	0.01751	T	0.822018	0.48145	T	0.073126465	0.16318	0.09188487	0.21627	0.08949082	0.20911	0.07744421	0.17251	-9.283	0.69500	D	0.35371682974795465	0.45071	0.107	0.20117	B	.;.;.	.;.;.	2.706086	0.35358	19.88	0.99284288146199018	0.58008	0.56796	0.30209	D	AEFDBCI	0.414520	0.48375	N	-0.377503514459143	0.26272	1.432592	-0.419791073847034	0.24417	1.336925	0.753767999298708	0.23401	0.554377	0.28877	0	0.550933	0.16991	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.09	1.85	0.24418	2.561000	0.45567	2.570000	0.33360	-0.249000	0.07183	0.963000	0.33788	0.978000	0.30204	0.008000	0.08271	0.3814:0.4907:0.0:0.128	4.371	0.10680	862	0.33134	.;.;.	CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood	RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|SGSH|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|SGSH	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	rs11652075	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.422805	0.408163	0.445504	0.473684	0.350000	0.456897	0.380368	0.367424	0.4286	8841.53	97	chr17	80205094	.	C	T	8841.53	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.423;DP=802;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.386;SOR=0.673	GT:AD:DP:GQ:PL	0/1:96,96:192:99:2234,0,2146	1	0	6	0
chr17	80208119	80208119	C	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	2	1229	268	23	0	314	0.113276	.	.	.	1158191	not_provided|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	.	.	.	.	.	.	.	.	.	.	0.0888	0.0720847	0.1526	0.0280	0.1084	0.0075	0.2308	0.1873	0.1186	0.1770	0.0424962	6570	154602	rs111745899	0.1426	0.1377	0.1425	0.1428	0.1531	0.1421	0.1419	0.1525	0.1522	0.0236	0.0832	0.1421	0.0128	0.1780	0.1180	0.1531	0.1319	0.1183	0.1098	0.1098	0.1093	0.1102	0.1530	0.1084	0.1078	0.1505	0.1495	0.0271	0.1371	0.1085	0.1509	0.0098	0.1816	0.1463	0.1530	0.1191	0.1250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1299.53	27	chr17	80208119	.	C	A	1299.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.529;DP=227;ExcessHet=0;FS=3.377;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=-1.552;SOR=1.225	GT:AD:DP:GQ:PL	0/1:26,51:77:99:1310,0,613	6	0	1	0
chr18	46485102	46485102	G	A	exonic	LOXHD1	.	synonymous SNV	LOXHD1:NM_001145473:exon7:c.C816T:p.N272N,LOXHD1:NM_001173129:exon7:c.C816T:p.N272N,LOXHD1:NM_001308013:exon19:c.C2478T:p.N826N,LOXHD1:NM_001145472:exon21:c.C2766T:p.N922N,LOXHD1:NM_144612:exon38:c.C5913T:p.N1971N,LOXHD1:NM_001384474:exon39:c.C6099T:p.N2033N	Deafness, autosomal recessive 77, Autosomal recessive	2	1492	27	1	0	29	0.00962496	.	.	.	176689	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_77|not_specified	MedGen:C3661900|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0009	0.00159744	0.0056	0.0004	0	0.0145	0	0.0017	0.0041	0.0124	0.0010802	167	154602	rs146200756	0.0019	0.0019	0.0016	0.0023	0.0113	0.0019	0.0018	0.0107	0.0105	0.0003	0.0008	0.0006	0.0052	0.0001	0.0093	0.0013	0.0025	0.0113	0.0014	0.0015	0.0013	0.0016	0.0128	0.0013	0.0012	0.0102	0.0092	0.0002	0	0.0007	0.0003	0.0080	0.0003	0	0.0014	0.0014	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.006231	0.000000	0.005348	0.010870	0.000000	0.019231	0.000000	0.006667	0.07143	1617.44	33	chr18	46485102	.	G	A	1617.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.99;DP=302;ExcessHet=0;FS=4.51;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.752;SOR=0.518	GT:AD:DP:GQ:PL	0/1:52,64:116:99:1628,0,1119	6	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	not_provided|Jaundice|Erythema|not_specified|Protoporphyria,_erythropoietic,_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000952,MedGen:C0022346|Human_Phenotype_Ontology:HP:0010783,MedGen:C0041834|MedGen:CN169374|MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1742.73	19	chr18	57580222	.	G	A	1742.73	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.904;DP=166;ExcessHet=3.1439;FS=0.784;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.725;SOR=0.578	GT:AD:DP:GQ:PL	0/1:12,25:37:99:670,0,283	2	0	4	1
chr19	38502629	38502629	G	A	exonic	RYR1	.	synonymous SNV	RYR1:NM_000540:exon48:c.G7737A:p.V2579V,RYR1:NM_001042723:exon48:c.G7737A:p.V2579V	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	99197	not_specified|Malignant_hyperthermia,_susceptibility_to,_1|Congenital_multicore_myopathy_with_external_ophthalmoplegia|Central_core_myopathy|not_provided|Neuromuscular_disease,_congenital,_with_uniform_type_1_fiber|RYR1-related_disorder	MedGen:CN169374|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597|MedGen:C3661900|MedGen:C2674259|MedGen:CN239331	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0108	0.0101837	0.0029	0.0323	0.0013	0	0	0	0	0	0.0027425	424	154602	rs114975624	0.0009	0.0009	0.0010	0.0008	0.0320	0.0009	0.0008	0.0304	0.0297	0.0320	0.0016	0	0	0	0.0024	2.608e-05	0.0021	9.276e-05	0.0089	0.0090	0.0089	0.0089	0.0313	0.0085	0.0084	0.0299	0.0293	0.0313	0	0.0026	0	0	0	0	5.884e-05	0.0066	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.003021	0.010101	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	2013.44	33	chr19	38502629	.	G	A	2013.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.49;DP=393;ExcessHet=0;FS=3.902;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=0.445;SOR=0.814	GT:AD:DP:GQ:PL	0/1:112,96:208:99:2024,0,2548	6	0	1	0
chr19	40614305	40614305	C	G	intronic	LTBP4	.	.	.	Cutis laxa, autosomal recessive, type IC, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	348959	LTBP4-related_disorder|not_provided|not_specified|Cutis_laxa_with_severe_pulmonary,_gastrointestinal_and_urinary_anomalies	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013170,MedGen:C2750804,OMIM:613177,Orphanet:221145	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0011	0.000599042	0.0009	0.0008	0.0003	0	0.0002	0.0013	0.0023	0.0001	0.0008085	125	154602	rs200914063	0.0007	0.0007	0.0007	0.0007	0.0023	0.0006	0.0006	0.0013	0.0011	0.0013	0.0002	0.0221	0	0.0001	0.0023	0.0002	0.0019	0.0001	0.0008	0.0008	0.0008	0.0008	0.0005	0.0007	0.0006	0.0004	0.0003	0.0005	0	0.0004	0.0185	0	0.0004	0.0034	0.0004	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2084.45	39	chr19	40614305	.	C	G	2084.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.493;DP=372;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-1.625;SOR=0.734	GT:AD:DP:GQ:PL	0/1:83,92:175:99:2095,0,1922	6	0	1	0
chr19	40616985	40616985	C	G	exonic	LTBP4	.	nonsynonymous SNV	LTBP4:NM_001042545:exon20:c.C2909G:p.P970R,LTBP4:NM_001042544:exon23:c.C3110G:p.P1037R,LTBP4:NM_003573:exon23:c.C2999G:p.P1000R	Cutis laxa, autosomal recessive, type IC, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	333581	LTBP4-related_disorder|not_provided|Cutis_laxa_with_severe_pulmonary,_gastrointestinal_and_urinary_anomalies	.|MedGen:C3661900|MONDO:MONDO:0013170,MedGen:C2750804,OMIM:613177,Orphanet:221145	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.447	0.170212400137	0.0014	0.000798722	0.0010	0.0020	0.0004	0	0.0002	0.0013	0.0022	0.0002	0.0009314	144	154602	rs200667255	0.0007	0.0007	0.0007	0.0007	0.0037	0.0007	0.0007	0.0031	0.0029	0.0037	0.0004	0.0221	0	7.491e-05	0.0023	0.0002	0.0021	0.0001	0.0013	0.0013	0.0012	0.0014	0.0022	0.0011	0.0011	0.0018	0.0017	0.0022	0	0.0007	0.0184	0	0.0004	0.0034	0.0004	0.0009	0.0002	0.16	0.26300	T	0.094	0.45318	T	1.0	0.90584	D	0.999	0.92359	D	0.001257	0.39669	N	0.000000	0.84458	0.81001	D	1.8	0.47472	L	-2.94	0.91851	D	-3.37	0.66665	D	0.736	0.76481	0.539	0.91089	D	0.808	0.93518	D	10	0.013317108	0.00283	T	0.170212	0.84782	D	0.447	0.74866	.	.	0.572442375005	0.56910	0.5289677841246028	0.52820	1.12242539896	0.78328	0.548874855042	0.45698	T	0.209983	0.85845	T	-0.210548	0.19303	T	-0.0816903	0.64779	T	0.0215077348182344	0.00854	T	0.665133	0.27420	T	0.2329617	0.46093	0.22365041	0.47251	0.20287381	0.42346	0.24895047	0.50455	-9.59	0.72650	D	.	.	0.138	0.30791	B	.;.;.	.;.;.	4.338118	0.66532	25.0	0.9981892826203792	0.90238	0.95975	0.66970	D	AEFDBI	0.618662	0.60439	D	0.364638425247273	0.59517	4.131733	0.377704692512233	0.60191	4.204188	0.99999994990409	0.74766	0.706298	0.61202	0	0.80507	0.99744	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	3.710000	0.54589	.	.	0.599000	0.40250	0.941000	0.32681	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	16.404	0.83489	749	0.51929	EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.015152	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1551.44	34	chr19	40616985	.	C	G	1551.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.15;DP=305;ExcessHet=0;FS=0.701;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.666;SOR=0.608	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1562,0,1422	6	0	1	0
chr19	40718299	40718299	G	C	intronic	ITPKC	.	.	.	.	414	862	226	20	0	266	0.133668	.	.	.	19316	Reclassified_-_variant_of_unknown_significance|ITPKC-related_disorder	.|.	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0885	0.0858626	0.1244	0.0338	0.1971	0.0711	0.1537	0.1280	0.1286	0.1256	0.110277	17049	154602	rs28493229	0.1280	0.1232	0.1279	0.1281	0.1858	0.1275	0.1273	0.1816	0.1799	0.0275	0.1858	0.1039	0.1200	0.1451	0.1115	0.1299	0.1233	0.1253	0.1023	0.1024	0.1009	0.1038	0.1441	0.1010	0.1004	0.1391	0.1370	0.0322	0.0274	0.1441	0.1144	0.0744	0.1514	0.1156	0.1295	0.0993	0.1182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	3249.24	34	chr19	40718299	.	G	C	3249.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.25;DP=484;ExcessHet=0.3476;FS=0.88;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=1;SOR=0.629	GT:AD:DP:GQ:PL	0/1:165,132:297:99:3072,0,4029	5	0	2	0
chr19	49182889	49182889	G	A	exonic	TRPM4	.	stopgain	TRPM4:NM_001321285:exon6:c.G513A:p.W171X,TRPM4:NM_001321281:exon9:c.G1230A:p.W410X,TRPM4:NM_001321283:exon9:c.G1053A:p.W351X,TRPM4:NM_001195227:exon11:c.G1575A:p.W525X,TRPM4:NM_017636:exon11:c.G1575A:p.W525X	Progressive familial heart block, type IB, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	243380	not_provided|Sudden_cardiac_death|Cardiovascular_phenotype|Progressive_familial_heart_block_type_IB|not_specified	MedGen:C3661900|EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298|MedGen:CN230736|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	0.000399361	0.0016	0.0004	0.0006	0	0.0065	0.0019	0	0.0008	0.0013195	204	154602	rs71352737	0.0018	0.0018	0.0018	0.0018	0.0054	0.0017	0.0017	0.0039	0.0034	0.0004	0.0002	0	0	0.0051	0.0054	0.0020	0.0012	0.0005	0.0016	0.0016	0.0015	0.0018	0.0022	0.0015	0.0014	0.0020	0.0018	0.0003	0	0.0005	0.0003	0	0.0066	0	0.0022	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.601	0.62442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.163103	0.26282	T	-0.0132297	0.69474	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	5.633348	0.92690	32	0.97466819956511719	0.34115	0.07213	0.13237	N	AEFDBI	0.048137	0.08182	N	0.0531138847885988	0.44286	2.705398	-0.37024840436156	0.25888	1.426515	6.99465648457758E-4	0.07645	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	3.44	-0.786	0.10394	0.670000	0.24838	0.612000	0.20040	0.657000	0.54293	0.010000	0.18352	0.031000	0.21272	0.001000	0.02609	0.1435:0.4387:0.4178:0.0	4.739	0.12378	723	0.55174	.;.	.	.	.	.	.	Uncertain significance	1	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	0.002530	0.000000	0.001359	0.005917	0.000000	0.000000	0.006098	0.000000	0.08333	218.27	10	chr19	49182889	.	G	A	218.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.616;DP=79;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.432;SOR=0.693	GT:AD:DP:GQ:PL	0/1:9,9:18:99:228,0,282	5	0	1	1
chr20	3234173	3234173	T	G	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R,SLC4A11:NM_001174089:exon5:c.A433C:p.R145R,SLC4A11:NM_001174090:exon5:c.A562C:p.R188R,SLC4A11:NM_001363745:exon5:c.A433C:p.R145R	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	0	589	691	242	0	1175	0.499363	.	.	YES	257346	not_provided|Corneal_dystrophy-perceptive_deafness_syndrome|not_specified|Corneal_dystrophy|Congenital_hereditary_endothelial_dystrophy_of_cornea	MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603	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	0	1	0.392246	0.474747	0.387228	0.353801	0.250000	0.379310	0.420732	0.363636	0.4286	12267.5	102	chr20	3234173	.	T	G	12267.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.55;DP=854;ExcessHet=1.4958;FS=0.542;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=0.297;SOR=0.772	GT:AD:DP:GQ:PL	1/1:0,223:223:99:6270,668,0	2	1	4	0
chr20	34935572	34935572	C	G	intronic	GSS	.	.	.	Glutathione synthetase deficiency, Autosomal recessive;Hemolytic anemia due to glutathione synthetase deficiency, Autosomal recessive	2	1497	22	1	0	24	0.00795229	0.0005	0.116	.	349909	Inherited_glutathione_synthetase_deficiency|not_specified	MONDO:MONDO:0017909,MedGen:CN030166,Orphanet:32|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0002	0	0	0.0002	0	6.058e-05	9.7e-05	15	154602	rs201359061	6.536e-05	6.499e-05	5.892e-05	7.185e-05	0.0009	5.459e-05	5.07e-05	0.0003	0.0002	0	0.0001	0.0016	0	0	0.0009	1.901e-05	0.0002	0.0001	8.547e-05	8.538e-05	7.711e-05	9.423e-05	1.47e-05	4.96e-05	3.965e-05	.	.	0	0	0	0.0035	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1077.92	41	chr20	34935572	.	C	G	1077.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.53;DP=237;ExcessHet=0.4139;FS=2.56;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=1.45;SOR=0.462	GT:AD:DP:GQ:PL	0/1:36,27:63:99:598,0,815	4	0	2	1
chr20	46128304	46128304	-	TT	intronic	CD40	.	.	.	Immunodeficiency with hyper-IgM, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	350041	not_provided|Hyperimmunoglobulin_M_syndrome	MedGen:C3661900|MONDO:MONDO:0003947,MedGen:C0272236,OMIM:PS308230	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0274	0.0120	0.0110	0.0156	0.0074	0.0160	0.0183	0.0908	0.0033426	87	26028	rs749590513	0.1204	0.1524	0.1209	0.1199	0.1416	0.1199	0.1197	0.1381	0.1367	0.0660	0.0865	0.1065	0.1416	0.0741	0.0672	0.1250	0.1213	0.1206	0.2292	0.2698	0.2372	0.2199	0.3799	0.2267	0.2257	0.3626	0.3556	0.1408	0.2706	0.2220	0.2808	0.3799	0.1099	0.1340	0.2704	0.2297	0.2347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	556.95	8	chr20	46128304	.	C	CTT	556.95	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.921;DP=196;ExcessHet=0.1336;FS=1.482;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.816;SOR=0.814	GT:AD:DP:GQ:PL	1/1:0,3:3:8:75,8,0	5	1	0	1
chr22	26464742	26464742	G	A	exonic	HPS4	.	synonymous SNV	HPS4:NM_152841:exon9:c.C873T:p.N291N,HPS4:NM_001349896:exon11:c.C888T:p.N296N,HPS4:NM_001349899:exon11:c.C888T:p.N296N,HPS4:NM_001349902:exon11:c.C888T:p.N296N,HPS4:NM_001349903:exon11:c.C888T:p.N296N,HPS4:NM_001349904:exon11:c.C888T:p.N296N,HPS4:NM_001349905:exon11:c.C888T:p.N296N,HPS4:NM_022081:exon11:c.C888T:p.N296N,HPS4:NM_001349898:exon12:c.C888T:p.N296N,HPS4:NM_001349900:exon12:c.C942T:p.N314N,HPS4:NM_001349901:exon12:c.C942T:p.N314N	Hermansky-Pudlak syndrome 4	0	1511	11	0	0	11	0.00362677	.	.	.	208783	Hermansky-Pudlak_syndrome_4|not_provided|not_specified	MONDO:MONDO:0013556,MedGen:C3484357,OMIM:614073,Orphanet:231500,Orphanet:79430|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0012	0.000998403	0.0011	0.0002	0.0006	0	0	0.0016	0.0036	0.0008	0.0010608	164	154602	rs138343171	0.0012	0.0012	0.0012	0.0013	0.0062	0.0012	0.0012	0.0046	0.0040	0.0002	0.0009	8.185e-05	2.537e-05	0.0001	0.0062	0.0014	0.0012	0.0011	0.0009	0.0009	0.0009	0.0008	0.0016	0.0008	0.0007	0.0014	0.0013	4.811e-05	0	0.0007	0	0	0.0003	0	0.0016	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001007	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	7763.44	42	chr22	26464742	.	G	A	7763.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.62;DP=864;ExcessHet=0;FS=0.521;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.16;SOR=0.662	GT:AD:DP:GQ:PL	0/1:303,309:612:99:7774,0,7268	6	0	1	0
chrX	133704278	133704278	A	-	intronic	GPC3	.	.	.	Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive;Wilms tumor, somatic	1	149	65	0	11	76	0.179063	.	.	.	1164583	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3076	0.2675	0.3111	0.3898	0.3058	0.3709	0.3238	0.1926	0.0006916	18	26028	rs374169314	0.1287	0.1448	0.1649	0.0007	0.1730	0.1280	0.1276	0.1670	0.1646	0.1118	0.1730	0.1608	0.1657	0.1779	0.1065	0.1249	0.1391	0.1169	0.0077	0.0090	0.0082	0.0061	0.0202	0.0072	0.0070	0.0188	0.0182	0.0202	0	0.0056	0.0043	0.0049	0.0071	0.0052	0.0013	0.0074	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	105.62	30	chrX	133704277	.	GA	G	105.62	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.358;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.25;ReadPosRankSum=0.641;SOR=0.765	GT:AD:DP:GQ:PL	0/1:39,8:49:86:86,0,864	6	0	1	0